75 results on '"congenital defect"'
Search Results
2. Classification of the Congenital Defect of the Lumbar Facet Joint: Case Report and Literature Review.
- Author
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Wang, Shuo, Lin, Gengxiao, Zhao, Geng, Qiu, Cheng, Wang, Lianlei, Yuan, Suomao, Tian, Yonghao, and Liu, Xinyu
- Subjects
ZYGAPOPHYSEAL joint ,LUMBAR pain ,LITERATURE reviews ,HUMAN abnormalities ,CONGENITAL disorders - Abstract
Background: Congenital lumbar facet joint defect is a rare congenital developmental disorder with only a few reported cases in the literature, primarily affecting the L5‐S1 segments. This study reports the first case of a defect in the left L3 inferior articular process; and presents a review of the existing literature on the subject, proposes a classification system, and validates the inter‐observer and intra‐observer reliability of this classification system. Case Presentation: A 14‐year‐old boy presented to our orthopedic clinic with persistent lower back pain for 1 month. Imaging analysis, including CT scans, 3D reconstruction, and MRI, revealed a congenital lumbar facet joint defect at the L3 level, which has not been reported. Conservative treatment resulted in a significant improvement in his symptoms, and he is currently under follow‐up care. Conclusion: Congenital defect of the lumbar facet joint is a rare spinal condition. This article reports the first patient with a defect in the left L3 inferior articular process and conducts a comprehensive literature review, proposing a classification of articular process defects into five types. The two most common types are Types B and C. We have demonstrated that this system is reliable and reproducible and have described the treatment of each type. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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3. Complete Thoracic Ectopia Cordis in Two Lambs.
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Cerqueira, Liz de Albuquerque, Mâcedo, Isabel Luana de, Sousa, Davi Emanuel Ribeiro de, Amorim, Haiane Arruda Luz, Borges, José Renato Junqueira, Ximenes, Fábio Henrique Bezerra, Câmara, Antonio Carlos Lopes, and Castro, Márcio Botelho de
- Subjects
CONGENITAL heart disease ,HUMAN abnormalities ,TERATOGENESIS ,SHEEP ,NEWBORN infants - Abstract
Simple Summary: This report characterized complete thoracic ectopia cordis (EC) affecting two newborn lambs from different locations in Brazil, contributing to the knowledge about this rare condition in sheep. Two male newborn lambs presented exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Clinical findings in the lambs, aside from the EC, were unremarkable. EC is an extremely rare congenital malformation in sheep, with limited cases documented globally. The pathogenesis and etiology remain uncertain, involving potential genetic and environmental factors. Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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4. Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.
- Author
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Jacinto, Joana Goncalves Pontes, Letko, Anna, Häfliger, Irene Monika, Drögemüller, Cord, and Agerholm, Jørgen Steen
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HOLSTEIN-Friesian cattle ,CALVES ,WHOLE genome sequencing ,ARNOLD-Chiari deformity ,GENOME-wide association studies ,ANIMAL diseases ,CATTLE breeds - Abstract
Background: Chiari malformation type II (CMII) was originally reported in humans as a rare disorder characterized by the downward herniation of the hindbrain and towering cerebellum. The congenital brain malformation is usually accompanied by spina bifida, a congenital spinal anomaly resulting from incomplete closure of the dorsal aspect of the spinal neural tube, and occasionally by other lesions. A similar disorder has been reported in several animal species, including cattle, particularly as a congenital syndrome. A cause of congenital syndromic Chiari-like malformation (CSCM) in cattle has not been reported to date. We collected a series of 14 CSCM-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). WGS was performed on 33 cattle, including eight cases with parents (trio-based; group 1), three cases with one parent (group 2), and three single cases (solo-based; group 3). Results: Sequencing-based genome-wide association study of the 13 Holstein calves with CSCM and 166 controls revealed no significantly associated genome region. Assuming a single Holstein breed-specific recessive allele, no region of shared homozygosity was detected suggesting heterogeneity. Subsequent filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. Furthermore, these two variants were only observed in Holstein cattle when querying WGS data of > 5,100 animals. Alternatively, potential de novo mutational events were assessed in each case. Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3. Conclusions: This study presents for the first time a detailed genomic evaluation of CSCM in Holstein cattle and suggests an unexpected genetic and allelic heterogeneity considering the mode of inheritance, as well as the type of variant. For the first time, we propose candidate causal variants that may explain bovine CSCM in a certain proportion of affected calves. We present cattle as a large animal model for human CMII and propose new genes and genomic variants as possible causes for related diseases in both animals and humans. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population.
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Ramírez-Rosete, Judit A., Hurtado-Vazquez, Alonso, Miranda-Duarte, Antonio, Peralta-Cruz, Sergio, Cuevas-Olivo, Ramiro, Martínez-Junco, José Antonio, Sevilla-Montoya, Rosalba, Rivera-Paredez, Berenice, Velázquez-Cruz, Rafael, Valdes-Flores, Margarita, Rangel-Escareno, Claudia, Alanis-Funes, Gerardo J., Abad-Azpetia, Laura, Grimaldo-Galeana, Sacnicte G., Santamaría-Olmedo, Monica G., and Hidalgo-Bravo, Alberto
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SINGLE nucleotide polymorphisms ,CONGENITAL hip dislocation ,DYSPLASIA ,FETAL presentation ,YOUNG adults ,TRANSFORMING growth factors-beta ,LOGISTIC regression analysis - Abstract
Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55–17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2–4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55–6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12–6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27–0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Aortic stenosis and mitral valve dysplasia in a miniature Bull Terrier.
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Vargas-Pinto, Piero and Delgado, J.
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MITRAL valve insufficiency ,AORTIC stenosis ,MITRAL stenosis ,MITRAL valve ,VENTRICULAR septum - Abstract
Copyright of Revista de la Facultad de Medicina Veterinaria y de Zootecnia is the property of Revista de la Facultad de Medicina Veterinaria y de Zootecnia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2024
- Full Text
- View/download PDF
7. Complete Congenital Absence of the Left Pericardium in Elderly Patient: A Case Report.
- Author
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Mekonnen, Sintayehu, Farris, Hawi, and Azmeraw, Daniel
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OLDER patients ,PERICARDIUM ,ECHOCARDIOGRAPHY ,HUMAN abnormalities - Abstract
Congenital pericardial absence is an uncommon heart condition that is usually undiagnosed due to a lack of symptoms and awareness. In this case study, we present a 72-year-old patient who initially presented for medical evaluation due to unexplained weight loss, a displaced cardiac apex, and poor echocardiographic windows. An extracardiac tumor was suspected at first, but it was later determined that the patient had a congenital complete absence of the left pericardium. This case illustrates the possibility for benign pathology to present abnormally and details the clinical features, imaging findings, and management of congenital absence of the pericardium. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Awareness of Periconceptional use of Folic Acid to Prevent Neural Tube Defects in Young Females of Dakshina Kannada Region, India: A Cross-sectional Stud.
- Author
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ARNOLD, JOSEPH PAUL, SHENOY, VARSHA, PRABHU, PRATHIMA, and SHERON, DEEPSHREYA
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NEURAL tube defects ,CONGENITAL disorders ,FOLIC acid ,HUMAN abnormalities ,AWARENESS ,FEMALES - Abstract
Introduction: Neural Tube Defects (NTDs) are one of the common congenital anomalies leading to miscarriages and serious disabilities in newborns. NTDs are the second most common type of birth defects. Even though the aetiology of NTDs is multifactorial, Folic Acid (FA) deficiency is the most common cause. There are limited Indian studies on awareness of FA usage in the general public. Aim: To assess the awareness and usage of FA to prevent NTDs in young ladies of Mangaluru, Dakshina Kannada (DK) district, Karnataka, India. Materials and Methods: It was a community-based crosssectional study conducted at Father Muller Medical College in Dakshina Kannada district, Mangaluru, Dakshina Kannada (DK) district, Karnataka, India from August 2023 to October 2023. A total of 300 young Indian females aged 18-35 years, residing in the study district, were randomly chosen as participants. Data were collected by an interviewer using a semistructured questionnaire with two components. Part 1 focused on sociodemographic details, while Part 2 gathered information on the awareness of FA supplements, dietary sources of FA, the best time, and dosage of FA supplements to prevent NTDs. Descriptive analysis of the data was done. Results: The study included 90 married and 210 unmarried females. The average age of the participants was 23.7±5.7 years. The study results observed that only 103 (34%) of the participants had heard about FA supplements. A total of 240 (80%) of them said they were not aware of the preferred time for FA. Only 9 (3%) females could mention the correct dose of FA. Conclusion: The study results indicate a gross lack of awareness about FA supplements to prevent NTDs in the general population of the region. [ABSTRACT FROM AUTHOR]
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- 2024
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9. شناسايي نشانههاي انتخاب مرتبط با آترزي دستگاه گوارش در گوسالههاي هلشتاين.
- Author
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حسين مح ّمدي and محمد شمس اللهي
- Abstract
Introduction: Obstructive gastrointestinal (GI) malformations are one of the most important congenital problems resulting in calf mortality within a few days of birth. The most common site for atresia, after the esophagus, is the jejunum. Jejunum atresia is the congenital absence or complete blockage of a part of the jejunumlumen. Early detection of intestinal obstruction is essential to prevent further complications. Intestinal atresia is an underdiagnosed congenital defect in cattle. It results in complete occlusion of the intestinal lumen and, unless surgically corrected, results in death or euthanasia of the affected calf. There is limited information on the incidence of this condition or risk factors, including predisposing alleles, associated with the defect. Atresia is a well-known congenital defect of the gastrointestinal system in calves and investigations into the etiology of this condition are warranted. Domestication and selection have significantly changed the behavioral and phenotypic traits in modern domestic animals. The selection of animals by humans left detectable signatures on the genome of modern dairy cattle. The identification of these signals can help us to improve the genetic characteristics of economically important traits in goats. Over the last decade, interest in the detection of genes or genomic regions that are targeted by selection has been growing. Identifying signatures of selection can provide valuable insights about the genes or genomic regions that are or have been under selection pressure, which in turn leads to a better understanding of genotype-phenotype relationships. This study aimed to identify the selection signatures using the unbiased theta method associated with gastrointestinal atresia in Holstein dairy calves. Materials and methods: For calves with intestinal atresia, muscle tissue (>1 g) was collected from the Latissimus dorsi muscle postmortem, and submerged in RNA later solution. DNA samples from 91 atresia cases and 377 control animals were genotyped using the Illumina 777K BovineHD beadchip (Illumina Inc). The work described here is a case–control association study. Single nucleotide polymorphism (SNP) missing 5% of data, with MAF of <1% and Hardy–Weinberg equilibrium P-values <10
−6 were removed. The genotyping efficiency for samples was also verified, and samples with more than 5% missing data were removed. Grouping was done to infer selection signatures based on FST statistic. The bioinformatics investigations were carried out using the Ensembl database for bovine genes (assembly ARS-UCD1.2), to identify potential candidate genes which already have been reported in/or surrounding genomic regions containing the peak of absolute extreme FST values. The regions corresponding to the upper and lower 0.01% of positive and negative obtained FST scores were considered regions under selection. Genes within a 500-kb span of the start and end of the QTL were identified using Ensembl 108 on the ARS-UCD1.2 bovine genome assembly implemented in biomart. Then, using the PANTHER database, the general biological function of the genes was checked. At this stage, it is assumed that genes that belong to a functional class can be considered as a group of genes that have some specific and common characteristics, and the quantitative trait loci (QTLs) in the selected region were extracted using the Animalgenome database, and the genes were compared with other researches. GeneCards (http://www.genecards.org) and UniProtKB (http://www.uniprot.org) databases were also used to interpret the function of the obtained genes. Results and discussion: with a 99.90 percentile threshold of the obtained theta (θ) values, eight genomic regions on chromosomes 7, 12, 13, 21, 22, 23 (two regions), and 29 in the Holstein calves were identified. Further investigation using bioinformatics tools showed these genomic regions overlapped with the genes (CSF2, SIAH3, TMEM14A, and SKIV2L) associated with embryonic development, small intestine length, apoptosis, and several tumors. The population used in our study is small, owing to the challenge of collecting a substantial amount of blood on calves on commercial herds having received the diagnosis of gastrointestinal atresia and ready to be culled. Diagnosis and culling of gastrointestinal atresia animals are ineffective preventive measures. Further work is required to identify which farm-specific or management risk factors contribute to the incidence of intestinal atresia. Conclusions: The results of this study may provide an important source to facilitate the identification of genomic regions and then, the genes affecting gastrointestinal atresia in claves. However, further studies are warranted to refine the findings using a larger sample size, whole-genome sequencing, and/or high-density genotyping. [ABSTRACT FROM AUTHOR]- Published
- 2023
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10. Symmetrical parapagus diprosopus tetrophthalmos in a bovine calf, with computed tomography imaging, and review of craniofacial duplications.
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McNulty, Kaylin, Tollefson, Christopher R., and Baughman, Brittany
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COMPUTED tomography ,AUTOPSY ,HUMAN abnormalities ,CALVES ,ANIMAL species - Abstract
Diprosopia, a congenital defect process also known as craniofacial duplication, is well-recognized in humans and has also been reported in numerous animal species. Here we describe a case of diprosopia in a live mixed-breed beef calf. We used computed tomography imaging to characterize internal and external abnormalities which, to our knowledge, have not been reported in any diprosopic veterinary species. Additional diagnostic tools included postmortem examination and histopathology. This case highlights distinct anatomic features associated with diprosopia and underscores the unique challenges associated with classifying and managing fetal malformations. [ABSTRACT FROM AUTHOR]
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- 2023
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11. A CASE OF SIMULTANEOUSLY DETECTED RECTOVAGINAL FISTULA AND ATRESIA ANI IN A KITTEN.
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Gezer, Bahar, Erdoğan, Rabia Buse, Yılmaz, Merve, Uçmak, Zeynep Günay, Bayka, Aslıhan, and Kırşan, İsmail
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HUMAN abnormalities ,KITTENS ,DEFECATION ,FISTULA ,ANAL surgery ,MUCOUS membranes - Abstract
Copyright of Veterinaria is the property of University of Sarajevo, Veterinary Faculty and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
- Full Text
- View/download PDF
12. Giant Morgagni hernia with transthoracic herniation of the left liver lobe and transverse colon: a case report.
- Author
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Albasheer, Osama, Hakami, Nasser, and Ahmed, Anas A.
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INGUINAL hernia ,HERNIA ,DIAPHRAGMATIC hernia ,HERNIA surgery ,COLON (Anatomy) ,COMPUTED tomography - Abstract
Background: A Morgagni hernia is a rare diaphragmatic hernia that is usually asymptomatic but can present with gastrointestinal and chest symptoms and is reported in many cases with strangulation. Here we report a rare case of a Morgagni hernia with transthoracic herniation of the left lobe of the liver and transverse colon that presented with abdominal pain. Case presentation: A 54-year-old Saudi female presented with abdominal pain, vomiting, and shortness of breath. Chest radiography revealed an air-containing viscus and a wide mediastinum. Computed tomography confirmed the presence of a right-sided Morgagni hernia. Reduction of the defect contents and repair of the hernia together with cholecystectomy were successfully performed using the laparoscopic approach. The patient recovered smoothly with complete resolution of preoperative symptoms. Conclusion: A Morgagni hernia is a rare diaphragmatic defect with an increased risk of incarceration. In addition to the omentum, transverse colon, and small bowel, the defect may involve the left lobe of the liver. Surgical repair is recommended in all cases of Morgagni hernia, to avoid the risk of incarceration. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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13. Risk factors for, and genetic association with, intestinal atresia in dairy calves.
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Keane, Orla M., Carthy, Tara R., Hanrahan, James P., Matthews, Daragh, McEwan, John C., Rowe, Suzanne J., Kenneally, Jonathon, and Mee, John F.
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HUMAN abnormalities ,CALVES ,INTESTINES ,GENOME-wide association studies ,LOCUS (Genetics) ,WATCHFUL waiting ,CATTLE reproduction - Abstract
Intestinal atresia is an under‐diagnosed congenital defect in cattle. It results in complete occlusion of the intestinal lumen and, unless surgically corrected, results in death or euthanasia of the affected calf. There is limited information on the incidence of this condition or on risk factors, including predisposing alleles, associated with the defect. In this study, active surveillance of 39 dairy farms over 8 years identified 197 cases of intestinal atresia among 56 454 calves born, an incidence of 0.35%. The majority of cases (83%) had occlusion of the jejunum, although cases with blockage of the colon (14%) or anus (4%) were also identified. The defect was twice as common in male as in female calves (p < 0.0001), and was more common in progeny of older cows than in progeny of first or second lactation cows (p < 0.001). Year and farm of birth were also significantly associated with incidence (p < 0.05). The incidence of intestinal atresia was highest among the progeny of three related Jersey sires, suggesting that a gene for intestinal atresia was segregating within this family. Linkage analysis utilising 28 affected progeny of two half‐sib putative carrier sires identified two putative quantitative trait loci associated with the defect, on chromosomes 14 and 26, although no clear candidate genes were identified. There was no evidence of a sire‐effect among the progeny of Holstein‐Friesian sires. However, a case–control genome‐wide association study involving 91 cases and 375 healthy controls, identified 31 SNP in 18 loci as associated with the defect in this breed. These data suggest that intestinal atresia in dairy calves is not a simple Mendelian trait as previously reported but a complex multigenic disorder. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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14. Congenital digital flexural deformity (knuckling): Epidemiology, the association of trace elements and surgical treatment in neonatal bovine calves.
- Author
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Chakraborty, Shrabony, Akter, Antora, Rahman, Md. Sabuj, Yesmin, Nelema, Juyena, Nasrin Sultana, and Alam, Md. Mahmudul
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CALVES ,TRACE elements ,ZINC ,AGRICULTURE ,IRON ,VITAMIN D ,BOS ,CALF muscles ,FOOT - Abstract
Objectives: This study aimed to investigate the prevalence and pattern of congenital flexural deformity (knuckling), to identify the association between trace elements and vitamins with the deformity, and to apply different surgical techniques for correcting this congenital malformation in newborn bovine calves. Materials and Methods: The study was implemented on 17 newborn calves with carpal (knee) and fetlock (foot) knuckling presented to the Veterinary Teaching Hospital of Bangladesh Agricultural University, Mymensingh, from January to December 2020. The serum biochemical alterations and clinical outcomes were assessed on days 0 and 21 following surgery. Two surgical methods: tendon transection and tendon elongation by Z-tenotomy, were performed for surgical restoration. Results: We found that knuckling comprised 12% of the total congenitally malformed calves. The male calves had a higher prevalence (52%, n = 9) and the same in the winter season (65%, n = 11). The majority of the knuckling was bilateral types (88%, n = 15), involving the carpal joint (82%, n = 14) and moderately angulated (59%, n = 10). The serum level of magnesium, iron, vitamin D, and zinc were significantly (p < 0.05) changed from the pre-surgical stage to the stage of non-lameness after surgery. The disorder was surgically treated by tendon transection or tendon elongation procedure and had a good prognosis. 3Conclusion: The current study concluded that the development of knuckling in calves might be related to a deficiency/excess of specific minerals and vitamins and that it can be effectively corrected by surgical intervention; however, early diagnosis and the use of proper surgical techniques are crucial for improving the prognosis. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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15. Surgical correction of polymelia in the perineal region of a 2-day-old indigenous bovine calf: a case report from Bangladesh.
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Munif, Mohammad Raguib, Safawat, Mst. Sanjida, and Hannan, Abdul
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PERINEUM ,CALVES ,PELVIC bones ,BOS ,GLUTEAL muscles ,HUMAN abnormalities - Abstract
Background: Polymelia is an occasional and congenital malformation in bovine calves, characterized by the presence of single or multiple accessory limb(s) at various body regions, which are often called the supernumerary limb(s). One of these defects is known as pygomelia, where the additional limb is attached to the pelvis within the perineal region. This study describes such a case along with surgical management. Case presentation: A 2-day-old indigenous bovine female calf of 22.7 kg BW was presented with an additional and non-functional fifth limb at the perineal region. The ectopic fifth limb was smaller in size than the other four normal limbs and was in a flexible hanging position. Other than this, the animal was apparently normal with a short and contracted tail. Clinical examinations involving the extension and flexion of the abnormal limb revealed no deep bony attachment/articulation with the pelvic girdle or the caudal spine. The curled tail having an S-shaped base indicated the skeletal defects in the caudal spine. Electrosurgery was performed under deep sedation with regional as well as local anesthesia, which exposed that the limb was internally seated into deep gluteal muscle layers with the attachments of fibrous connective tissues and cartilage to its proximal bony head and located partially to the left lateroventral extremity of the perineum without any direct involvement in the bony pelvis. Surgical excision was done to remove the supernumerary limb, and the wound was closed routinely. Postoperatively, the animal was provided with supportive medications for early healing and recovery. After 2 weeks of surgery, the calf completely recovered without any complications. The contracted tail and spine were left unaffected as no initial surgical maneuver was done due to the early age of the calf and would be considered for further long-term treatment options upon the growth and development with age. Conclusions: Pygomelia of bovine calves is one of the rare congenital defects that can be found along with other developmental anomalies. However, this defect can be successfully corrected by surgical approaches following intensive postoperative care and management. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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16. Geneticky podmíněná onemocnění plodu v praxi oddělení reprodukční medicíny a genetiky.
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Derbak, Alena, Hasch, Marcel, Přikrylová, Petra, Berger, Filip, Malimánek, Jan, Štuksová, Claudia, Veselíková, Jana, Moskurová, Pavlína, Česáková, Michela, Volfová, Andrea, Bráborec, Vojtěch, Horák, Jakub, and Uher, Petr
- Abstract
Copyright of Actual Gynecology & Obstetrics / Aktuální Gynekologie a Porodnictví is the property of Aprofema s.r.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
17. A case of schistosomus reflexus in an Arabian colt.
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Valli, C., Duarte, L. F., Wilsher, S., and Tin Yu Graham, R. J.
- Abstract
Schistosomus reflexus is an extremely rare congenital abnormality which presents as a closure defect of the ventral abdominal wall coupled with a severe spinal curvature. This condition has been reported in many species, although most commonly in cattle. This article describes a case of schistosomus reflexus in an Arabian colt. The mare was presented for dystocia and after several unsuccessful attempts to deliver the foal per vaginum, Caesarean section was performed to deliver the dead foetus. The mare recovered uneventfully and was discharged oneweek post-surgery. Post mortem examination of the foetus showed a severe defect of the ventral abdominal wall with extra-abdominal organs and a severe scoliosis with longitudinal rotation at the thoracolumbar region of the spine. Although a specific aetiology for the development of this condition has not been found in any species, hypotheses include both genetic and nongenetic causes. To our knowledge, this is the first case of schistosomus reflexus reported with macroscopically normal urinary system and no ankyloses of any joint. Its description may provide further clues to better understand the aetiopathogenesis of this congenital malformation. [ABSTRACT FROM AUTHOR]
- Published
- 2022
18. The Success of an Intra-Ductal Stenting in a Three-Day-Old Infant with Tricuspid Valve Atresia: A Case Report.
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Kamiab, Zahra, Bagheri, Mohammad Mehdi, Ahmadipour, Maryam, and Derakhshan, Reza
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TRICUSPID valve ,HUMAN abnormalities ,INFANTS ,PATENT ductus arteriosus ,PROSTAGLANDIN E1 ,CONGENITAL heart disease - Abstract
Tricuspid valve atresia is a congenital heart defect and if left untreated, the lesion has a high mortality rate. This study aimed to report a case of tricuspid valve atresia in a low-birth-weight three-day-old infant, who was treated by intra-ductal stenting and established pulmonary blood flow instead of routine shunting. The patient was a three-day-old male infant, weighing 2800 grams with a gestational age of 38 weeks. He was admitted with symptoms of tachypnea, cyanosis, 45% saturation, and severe metabolic and respiratory acidosis. On echocardiography, tricuspid valve atresia was observed. The infant was treated with prostaglandin E1 immediately after admission to the NICU and necessary interventions were taken to keep the patent ductus arteriosus (PDA) open. Angiography was performed through the aortic artery. First, a balloon was inserted, and then a stent was successfully placed inside the PDA. Preoperative saturation increased from 45% to 93% after stenting, and the infant was extubated after 48 hours in a good general condition. As the results of the current case report showed, stent placement can effectively keep the PDA open and establish pulmonary blood flow in high-risk infants. It is suggested that ductal stenting should be considered as the first treatment selection in newborns with tricuspid valve atresia or as a good alternative method for Blalock-Taussig shunt. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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19. Consideraciones actuales sobre los teratógenos y sus efectos durante el embarazo.
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Calzadilla Lara, Sandra Yiset, Uriarte Nápoles, Aylén, Ricardo Saint Félix, Farah María, and Melian Savigñón, Cecilia
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HUMAN abnormalities ,TERATOGENIC agents ,DIGITAL libraries ,TERATOLOGY ,FETUS - Abstract
Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
20. Onfalocele em bezerro neonato.
- Author
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Dalmina Rech, Rodrigo, Comparsi Coelho, Isadora, Soares Deponti, Patrícia, Berlesi Agnes, Andrey, Dutra Corrêa, Luís Felipe, Pozzobon, Ricardo, Farinelli de Siqueira, Renata, and Lizandra do Rêgo Leal, Marta
- Abstract
Background: An omphalocele is a rare congenital malformation characterized by the protrusion of the abdominal contents through the base of the umbilical cord. A defect in the midline of the abdomen results in the abdominal contents being covered by a membranous sac near the umbilical cord, which ultimately results in the failure of the abdominal organs to return to the abdominal cavity in the early gestational stages and the development of an omphalocele. This study aimed to address the diagnosis, medical-surgical management, and treatment for an omphalocele in a newborn calf. Case: A 2-day-old male Red Angus calf, weighing 35 kg, was referred to the HVU-UFSM. According to the owner, the animal was born via normal delivery, had ingested milk, was alert, and had an enlarged pendulous abdomen at the umbilicus. Physical examination did not show any changes in vital functions; however, intestinal stasis was observed. An in-depth examination revealed the presence of a round mass of tissue approximately 15 cm in diameter that was filling the remnant of the umbilical cord. This structure was covered by a thin, slightly dried membrane that isolated the contents from the external environment. On palpation, the mass was firm and non-reducible, and an omphalocele was suspected. Given the severity of the condition, the animal immediately underwent an emergency surgical procedure to correct the congenital defect. The surgery involved placing the intestinal loops that were present inside the sac in the abdominal cavity. At the end of the procedure, the animal was placed in a quadrupedal position to better assess omphalocele reduction. Postoperatively, the following medications were administered: a single dose of an analgesic along with a dipyrone and hyoscine-based antispasmodic (25 mg/kg, IM), an enrofloxacin-based antibiotic (2.5 mg/kg, IM) once a day for 7 days, and a non-steroidal anti-inflammatory drug, meloxicam (0.5 mg/kg, IM), for 3 days; in addition, the surgical wound was cleaned with a 2% povidone-iodine solution. The animal defecated shortly after the surgery. It received the first postoperative treatment and subsequently recommended therapy on the farm. Wound healing was observed after 10 days, and the stitches were removed by a local veterinarian. Discussion: Birth defects, which are not uncommon in the offspring of a herd, are anomalies in the structure and/or function of a certain system of the organism or part of it. An omphalocele is one of these anomalies and has been reported in foals, cats, dogs, pigs, buffalos, calves, goats, dolphins, and sheep. However, its cause is remains unknown. Although it is speculated that the condition is caused by a recessive genetic trait, it has not been confirmed as a hereditary anomaly. In humans, omphalocele is often associated with other anomalies and, in addition to the intestine, other organs of the abdomen may be involved, which significantly increases mortality. The animal in this study presented with intestinal stasis solely due to the entrapment of portions of the small intestine, and no other organic alteration was found to be associated with the omphalocele. Other abnormalities associated with this congenital defect have not been reported in literature either. The case described herein demonstrates how the clinical approach, early diagnosis, surgical intervention, and therapeutic management achieved the objective of correcting an omphalocele in a neonate calf. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
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21. Open anatomical repair for primary coarctation of the aorta in adults.
- Author
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Uehara, Kyokun, Matsuda, Hitoshi, Yokawa, Koki, Inoue, Yosuke, Shijo, Takayuki, Seike, Yoshimasa, and Sasaki, Hiroaki
- Abstract
Objectives: Although endovascular repair has become an alternative treatment for coarctation of the aorta (CoA) in adults, open repair provides concomitant repair of other cardiac complications, including post-stenotic aneurysm, ascending aortic aneurysm, and intracardiac diseases. We evaluated open anatomical repair for CoA repair in adults. Methods: Eleven patients (6 men, age range 21–63 years) underwent primary CoA repair. Complicating conditions included post-stenotic aortic aneurysm in the descending aorta in 5 patients (45.5%) and ascending aortic aneurysm in 3 (27.3%). Two patients (18.2%) had a bicuspid aortic valve, and one (9.1%) had a quadricuspid aortic valve. Ventricular septal defect was detected in 1 patient (9.1%). Eight patients (72.7%) underwent descending aorta replacement through a left thoracotomy, comprising partial cardiopulmonary bypass in 4 and deep hypothermic circulatory arrest in 4. Of those, the left subclavian artery was reconstructed in 4 patients. The remaining 3 patients (27.3%) underwent total arch replacement, through a median sternotomy in 1 and using a combination of median sternotomy and thoracotomy in 2. Results: No in-hospital mortality was observed. No spinal cord ischemia or neurological events were encountered, but 1 patient (9.1%) who underwent CoA repair via median sternotomy and thoracotomy required prolonged ventilatory support for more than 48 h. During the follow-up of 90 months (interquartile range 65–124 months), no patient died or required reintervention for the repaired segment. Conclusions: CoA in adults could be anatomically repaired with graft replacement both through the median sternotomy, the left thoracotomy, and the combination of both approaches, according to the complicated aortic or intracardiac lesions. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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- View/download PDF
22. Tactics, techniques, and challenges in the management of giant choledochal cyst in adolescents and adults: a retrospective cohort study.
- Author
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Kumar, Saket, Singla, Saurabh, Kumar, Sanjay, Singh, Rakesh Kumar, Raj, Amarjit Kumar, and Mandal, Manish
- Subjects
ADULTS ,TEENAGERS ,COHORT analysis ,SURGICAL excision ,BILIARY tract ,CHOLANGIOGRAPHY ,TREATMENT effectiveness - Abstract
Background: Choledochal cyst is a rare congenital anomaly manifesting as cystic dilatation of the biliary tree. This study presents our 5-year experience with giant choledochal cyst in adolescents and adults, focusing primarily on its clinical presentation, operative challenges, and pragmatic solutions. Methods: A retrospective observational study was conducted on 58 adolescent and adult choledochal cyst patients who were managed at a tertiary care hospital. Giant choledochal cyst is defined as cyst with a maximum diameter of ≥ 10 cm. Demographic profile, clinical presentation, and surgical outcome of these patients were analyzed. Results: A total of 12 patients with giant choledochal cyst were managed in our department in a duration of 5 years. The median age of patients with giant choledochal cyst was 20 years (range, 13–30 years) and male to female ratio was 1:2. Giant choledochal cysts were more symptomatic and 8 out of 12 presented with classic triad of abdominal pain, mass, and jaundice. One patient with giant choledochal cyst had metastatic cholangiocarcinoma. Eleven patients underwent surgical cyst excision. Surgery of the giant cyst was challenging and required technical modifications for safe excision. Conclusion: Giant choledochal cyst is an unusual entity that is rarely encountered beyond first decade of life. These cysts pose unique surgical challenges and require modification of the standard operative technique. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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23. Myelomeningocele: congenital neural tube defect anomaly (a rare clinical image).
- Author
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Patil, Shraddha and Mourya, Archana
- Subjects
NEURAL tube defects ,NEURAL tube ,SPINA bifida ,NEONATAL intensive care units ,DELIVERY (Obstetrics) ,CONGENITAL disorders - Published
- 2024
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- View/download PDF
24. Dystocia Due to Dicephalus Tetrabrachius Thoracopagus Dipus Dicaudatus Monster in A Murrah Buffalo: A Case Report.
- Author
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Hitesh, Kumar, Sandeep, Singh, Gyan, Pradeep, and Dalal, Jasmer
- Subjects
DYSTOCIA ,CESAREAN section ,VAGINA examination ,FORELIMB - Abstract
A Murrah buffalo suffering from dystocia due to a monster was referred to Veterinary Clinical Complex. On per vaginal examination, two heads and four forelimbs were present in the birth canal. A lot of manipulation was already had been done in the field therefore it was decided to go for caesarean section and a conjoint monster was delivered. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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- View/download PDF
25. The role of p53 in developmental syndromes.
- Author
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Bowen, Margot E and Attardi, Laura D
- Abstract
While it is well appreciated that loss of the p53 tumor suppressor protein promotes cancer, growing evidence indicates that increased p53 activity underlies the developmental defects in a wide range of genetic syndromes. The inherited or de novo mutations that cause these syndromes affect diverse cellular processes, such as ribosome biogenesis, DNA repair, and centriole duplication, and analysis of human patient samples and mouse models demonstrates that disrupting these cellular processes can activate the p53 pathway. Importantly, many of the developmental defects in mouse models of these syndromes can be rescued by loss of p53, indicating that inappropriate p53 activation directly contributes to their pathogenesis. A role for p53 in driving developmental defects is further supported by the observation that mouse strains with broad p53 hyperactivation, due to mutations affecting p53 pathway components, display a host of tissue-specific developmental defects, including hematopoietic, neuronal, craniofacial, cardiovascular, and pigmentation defects. Furthermore, germline activating mutations in TP53 were recently identified in two human patients exhibiting bone marrow failure and other developmental defects. Studies in mice suggest that p53 drives developmental defects by inducing apoptosis, restraining proliferation, or modulating other developmental programs in a cell type-dependent manner. Here, we review the growing body of evidence from mouse models that implicates p53 as a driver of tissue-specific developmental defects in diverse genetic syndromes. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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- View/download PDF
26. Segmental agenesis of the uterine body, cervix and vagina in a bitch.
- Author
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CHUL HO PARK and CHANG HO SON
- Subjects
VAGINA ,GENITALIA ,FEMALE reproductive organs - Abstract
This report describes a case of congenital segmental agenesis of the uterine body, cervix and vagina in a bitch. A five-year-old, Pomeranian bitch was presented with anorexia, abdominal distension and absence of the oestrus vulvar discharge. Complementary examinations were performed and ultrasonography revealed marked distention of the uterine horns with fluid-filled thin wall and defects in the uterine-vaginal segment. During surgery, closer inspection of the reproductive tract showed segmental agenesis of the uterine body, cervix and cranial part of vagina. The dog recovered uneventfully and six months later there were no further specific problems. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
- View/download PDF
27. Surgical Management of Congenital Flexor Tendon Deformity in Punganur calves.
- Author
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Ravikanth, J., Mounika, R. Bala, and Reddy, S. V. Prudhvi
- Subjects
CALVES ,FLEXOR tendons ,TENOTOMY ,HUMAN abnormalities ,FORELIMB ,TENDONS - Abstract
Two Punganur heifer calves were presented with non-weight bearing, lameness and knuckling of both forelimbs. There was difficulty in extension of fetlock joints of forelimbs in both calves. The condition was diagnosed as contracted tendons and surgical correction was attempted. Tenotomy was undertaken under local analgesia. Post-operatively, limbs were immobilized with reinforced MRJ using bamboo splints and the same was repeated with routine antiseptic dressing. Both calves recovered normally with complete weight bearing. [ABSTRACT FROM AUTHOR]
- Published
- 2021
28. Asymptomatic unilateral kidney ectopia and hypoplasia in an adult Warmblood mare.
- Author
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Siwinska, Natalia, Zak, Siwinska, Słowikowska, Malwina, and Paslawska, Urszula
- Subjects
KIDNEY failure ,ABNORMALITIES in animals ,BLADDER exstrophy ,HORSES ,VETERINARY medicine - Abstract
This article presents the case of asymptomatic renal hypoplasia and ectopy as an incidental finding in a nine-year-old Polish Thorough-Warmblood-Mixed-Bred mare. The abnormal kidney position was initially diagnosed during the rectal examination (the left kidney was not palpable). The finding was confirmed in the transcutaneous abdominal ultrasonographic examination. The left kidney was located between the middle and lower third of the abdominal cavity in the left flank, medial to the spleen, under the L1–L2 vertebrae. It was smaller than normal, more round in shape and its inner echostructure was poorly defined. The right kidney was located anatomically and had normal dimensions. The complete blood count, serum biochemistry and complete urinalysis revealed normal urinary tract function. Congenital urinary tract defects, particularly those affecting the kidneys, are rare in horses. They are most commonly described in foals and young horses. To the authors' best knowledge, renal ectopy has not been described in horses, while bilateral renal hypoplasia has been described in four horses with signs of kidney failure. Renal ectopy is a congenital anomaly characterised by abnormal organ location. Studies suggest that a developmental anomaly affecting one kidney is often accompanied by other disorders. In this case, renal ectopy was accompanied by renal hypoplasia, associated with incomplete organ development. The cause of congenital urinary tract disorders has not been fully determined. It is speculated that teratogenic drugs used either during pregnancy or to treat intrapartum uterus infections or systemic infections may result in offspring urinary tract anomalies. Due to the fact that the ultrasonographic findings of many renal pathological deformations are unspecific, a renal biopsy and histopathologic assessment of the collected specimen are needed to determine the type of structural lesion. The limitation of the presented case study is the absence of either a biopsy and histopathologic tissue examination as owner's consent could not be obtained for these procedures. Hence, the type and degree of parenchymal lesions could not be determined definitively, and the presumptive diagnosis was based on the ultrasonographic examination. In the presented mare, the incorrect kidney location and structure did not give any clinical symptoms. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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- View/download PDF
29. A Case of Atresia Ani in an Anatolian Water Buffalo Calf.
- Author
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VAROL, Kemal, ATALAN, Gültekin, GÜNES, Vehbi, ALPMAN, Umut, and YÖNEZ, Muhammed Kaan
- Subjects
WATER buffalo ,CONGENITAL disorders ,DEFECATION disorders ,VETERINARY medicine ,RECTAL surgery - Abstract
Copyright of Journal of Faculty of Veterinary Medicine, Erciyes University / Erciyes Üniversitesi Veteriner Fakültesi Dergisi is the property of Erciyes University, Faculty of Veterinary Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2018
- Full Text
- View/download PDF
30. A probable example of cranial dysraphism from New Orleans, Louisiana.
- Author
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Halling, C. L. and Seidemann, R. M.
- Subjects
HUMAN abnormalities ,NEURAL tube defects ,SKULL ,TISSUE wounds ,ARCHAEOLOGY - Abstract
Abstract: Cranial dysraphism, a pathological condition resulting from a neural tube defect, is a rarely reported condition in archaeological and clinical literature. A defect at bregma was identified on human remains recovered from New Orleans, Louisiana, when exhumation of several commingled bodies occurred in a paupers' cemetery in 2015. Initial speculation regarding the cause of the condition consisted of trauma, pathological condition, a natural variant, or the result of a congenital defect. A differential diagnosis was utilised to approach the breadth of potential causative factors, incorporating clinical information on the bony response of soft tissue defects common in modern reports. However, during a review of the bioarchaeological literature, an alternative explanation for the feature, one that did not result from typically reported causes, revealed that this observed defect was likely an example of the rarely reported condition known as cranial dysraphism. Through review of both clinical and bioarchaeological data, the resulting diagnosis observed here is supported through the unique characteristics that several other authors have identified as associated with cranial dysraphism. Unique features of this bony defect include the smooth walls of the depression, a saucer‐like shape with an anterior rim built up of cortical bone, lack of diploë exposure, a perforation at the base of the saucer, and the retention of cranial sutures. Although the defect also closely resembles the bony response to a cyst, the perforation and anterior rim are supportive of its diagnosis as a cranial dysraphism. This case study of a single occurrence of cranial dysraphism is reported to assist practitioners in differentiating between this condition and other potential causes of anomalies of similar appearance. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
31. Evaluación del crecimiento y desarrollo de pacientes con síndrome Down en Santiago de Cuba.
- Author
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Rubio González, Tamara, Norbert Vázquez, Lisandra, and de la Caridad García González, Dianelys
- Abstract
Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2018
32. A rare case of partial paraxial radial hemimelia in a puppy: a case report.
- Author
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MACRI, F., DI PIETRO, S., PALUMBO PICCIONELLO, A., RAPISARDA, G., LANTERI, G., ANGILERI, V., and MARINO, F.
- Subjects
PUPPIES ,RADIOGRAPHY ,HUMAN abnormalities ,FETAL development ,DISEASES of the anatomical extremities ,DISEASES - Abstract
This article reports a case of a congenital unilateral forelimb defect in a two-month-old male puppy with clinical and radiographic findings. Congenital deformities are structural or functional congenital defects arising from errors during development, and they can affect an isolated portion of the body, the complete body or parts of several systems of the body. The congenital absence of a portion of the proximal epiphysis of the radius is an extremely rare condition in human and animal species. Although similar congenital limb deformities have been infrequently reported in dogs, the present case is, to the best of the authors' knowledge, the first report of this type of partial forelimb paraxial radial hemimelia in a puppy, and it represents an addition to the scant literature on this topic. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
33. Późno rozpoznana wrodzona agenezja płuca lewego u 15-letniego chłopca.
- Author
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Jaszczura, Majka, Kleszyk, Magdalena, Bień, Karolina, and Machura, Edyta
- Abstract
Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2017
- Full Text
- View/download PDF
34. A rare instance of fused pelvic kidney without other associated congenital anomalies.
- Author
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Melovitz-Vasan, Cheryl, Varricchio, Paolo, and Vasan, Nagaswami
- Subjects
KIDNEY abnormalities ,KIDNEY surgery ,HUMAN abnormalities ,KIDNEY blood-vessels ,RENAL artery - Abstract
Much of the fused pelvic kidney (pancake kidney) described in the literature are complicated by coexisting anomalies of other organ system and vasculature. During a routine anatomical dissection of a 69 year-old male we found a fused pelvic kidney without vascular or other organ system defects. A detailed dissection of the entire body showed normal anatomical features except pancreatic cancer and related lymph nodes. Further dissection of the pelvic kidney showed presence of right and left accessory renal arteries; however the remaining vasculature was normal. Possible embryological causes of pelvic kidney and clinical consequences of this anomaly are discussed. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
35. Pregnancy outcome for fetuses with increased nuchal translucency but normal karyotype.
- Author
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Lithner, Christina Unger, Kublickas, Marius, and Ek, Sverker
- Subjects
EVALUATION of medical care ,FETAL abnormalities ,FETAL ultrasonic imaging ,KARYOTYPES ,LONGITUDINAL method ,PREGNANCY ,RETROSPECTIVE studies - Abstract
Objective To investigate pregnancy outcome for fetuses with nuchal translucency (NT) ≥3.5 mm but normal karyotype in the Stockholm (Sweden) area. Methods A retrospective population-based cohort study. From 2006 to 2012, fetal NT was measured in 55123 singleton pregnancies. There were 341 pregnancies with NT thickness ≥3.5 mm; 139 had a normal karyotype, 164 had an abnormal karyotype and 38 were removed from the study. Pregnancy outcome was defined as adverse (termination of pregnancy [TOP], miscarriage [MC], intrauterine fetal death [IUFD], or delivery of a child with structural defects or genetic disorders), or favourable (delivery of a child without any structural defects or genetic disorders diagnosed before discharge). Results Of the 139 high NT pregnancies with normal karyotype, 110 (79.2%) resulted in live births, one (0.7%) IUFD, 23 (16.5%) TOP and five (3.6%) MC. The risk of an adverse pregnancy outcome increased with increasing NT. Structural fetal defects were found in 28 (19.5%) of pregnancies undergoing second trimester ultrasound screening, of which seven resulted in live births and 21 were terminated. The most common structural defect was cardiac defects. Conclusions Adverse pregnancy outcome increased with increasing NT, even with normal karyotype, however, the prognosis is good if the second trimester ultrasound screening is normal. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
36. Трагедія самотності в творчості В. Г. Короленка (історико-філософський аналіз)
- Author
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Салій А.
- Abstract
The creative legacy of V. G. Korolenko is multifaceted and diverse, because he is not only a writer, it is a journalist, and to some extent a journalist, a human rights activist, and a citizen with an active life position, who, with the help of a word and a pen, communicates to the public the main principles of social justice, supremacy rights, and through the artistic text tries to reveal the depth of the human soul, the phenomenon of causality and consequence in the social behavior of man. In the material, the main attention is paid to the topic of the topic that is poorly researched in the creative heritage of the thinker - the problem of individual loneliness. The writer himself did not distinguish this subject specifically, but she is constantly present in almost all his most famous works. It turns out that a lonely personality is one object of V. G. Korolenko’s comprehension of a person as a «social being», although the writer is inclined to the fact that loneliness is a phenomenon mostly negative. It can and must be overcome through the internal efforts of the person himself and the help of a society, part of which is a person. [ABSTRACT FROM AUTHOR]
- Published
- 2018
37. Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal.
- Author
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Tġbġran, Alexandru-Flaviu, Nagy, Andras Laszlo, Cġtoi, Cornel, Morar, Iancu, Tăbăran, Alexandra, Mihaiu, Marian, and Bolfa, Pompei
- Subjects
PERICARDIUM diseases ,ERYTHROCYTE disorders ,APLASTIC anemia ,AUTOPSY - Abstract
Background: In veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia. Case presentation: Following a normal delivery, a full term, female Friesian stillborn foal with the placenta was presented for necropsy. External morphological examination indicated a normally developed foal. At necropsy, a large oval defect (approximately 20 × 15 cm in size) was observed in the left-dorsal side of the diaphragm (left lumbocostal triangle). This defect allowed the intestinal loops, spleen and partially the liver to translocate into the thorax. The loops of the left ascending colon, including the pelvic flexure and partially the small intestine covered the cranial and dorsal posterior parts of the heart due to the complete absence of the left pericardium. The remaining pericardium presented as a white, semi-transparent strip, partially covering the right side of the heart. The left lung and the main bronchus were severely hypoplastic to approximately one-fifth the size of their right homologue. The intermediate part of the liver, containing mainly the enlarged quadrate lobe was translocated in the thorax, severely enlarged and showed marked fibrosis. Histologically in the herniated lobes we diagnosed hepatic chronic passive congestion, telangiectasia and medial hypertrophy of blood vessels. Conclusion: Concomitant malformation involving diaphragmatic hernia and pericardial aplasia in horses have not been previously reported. Moreover, this is the first case describing pericardial aplasia in horse. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
38. Anatomical Variant of Atlas : Arcuate Foramen, Occpitalization of Atlas, and Defect of Posterior Arch of Atlas.
- Author
-
Myoung Soo Kim
- Subjects
HUMAN abnormalities ,ATLAS (Vertebra) ,VERTEBRAE ,NEUROVASCULAR surgery ,BONE fractures - Abstract
Objective: We sought to examine anatomic variations of the atlas and the clinical significance of these variations. Methods: We retrospectively reviewed 1029 cervical 3-dimensional (3D) CT images. Cervical 3D CT was performed between November 2011 and August 2014. Arcuate foramina were classified as partial or complete and left and/or right. Occipitalization of the atlas was classified in accordance with criteria specified by Mudaliar et al. Posterior arch defects of the atlas were classified in accordance with criteria specified by Currarino et al. Results: One hundred and eight vertebrae (108/1029, 10.5%) showed an arcuate foramen. Bilateral arcuate foramina were present in 41 of these vertebrae and the remaining 67 arcuate foramina were unilateral (right 31, left 36). Right-side arcuate foramina were partial on 18 sides and complete on 54 sides. Left-side arcuate foramina were partial on 24 sides and complete on 53 sides. One case of atlas assimilation was found. Twelve patients (12/1029, 1.17%) had a defect of the atlantal posterior arch. Nine of these patients (9/1029, 0.87%) had a type A posterior arch defect. We also identified one type B, one type D, and one type E defect. Conclusion: Preoperative diagnosis of occipitalization of the atlas and arcuate foramina using 3D CT is of paramount importance in avoiding neurovascular injury during surgery. It is important to be aware of posterior arch defects of the atlas because they may be misdiagnosed as a fracture. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
39. Image quality of CT angiography with model-based iterative reconstruction in young children with congenital heart disease: comparison with filtered back projection and adaptive statistical iterative reconstruction.
- Author
-
Son, Sung, Choo, Ki, Jeon, Ung, Jeon, Gye, Nam, Kyung, Kim, Tae, Yeom, Jeong, Hwang, Jae, Jeong, Dong, and Lim, Soo
- Abstract
To retrospectively evaluate the image quality of CT angiography (CTA) reconstructed by model-based iterative reconstruction (MBIR) and to compare this with images obtained by filtered back projection (FBP) and adaptive statistical iterative reconstruction (ASIR) in newborns and infants with congenital heart disease (CHD). Thirty-seven children (age 4.8 ± 3.7 months; weight 4.79 ± 0.47 kg) with suspected CHD underwent CTA on a 64detector MDCT without ECG gating (80 kVp, 40 mA using tube current modulation). Total dose length product was recorded in all patients. Images were reconstructed using FBP, ASIR, and MBIR. Objective image qualities (density, noise) were measured in the great vessels and heart chambers. The contrast-to-noise ratio (CNR) was calculated by measuring the density and noise of myocardial walls. Two radiologists evaluated images for subjective noise, diagnostic confidence, and sharpness at the level prior to the first branch of the main pulmonary artery. Images were compared with respect to reconstruction method, and reconstruction times were measured. Images from all patients were diagnostic, and the effective dose was 0.22 mSv. The objective image noise of MBIR was significantly lower than those of FBP and ASIR in the great vessels and heart chambers ( P < 0.05); however, with respect to attenuations in the four chambers, ascending aorta, descending aorta, and pulmonary trunk, no statistically significant difference was observed among the three methods ( P > 0.05). Mean CNR values were 8.73 for FBP, 14.54 for ASIR, and 22.95 for MBIR. In addition, the subjective image noise of MBIR was significantly lower than those of the others ( P < 0.01). Furthermore, while FBP had the highest score for image sharpness, ASIR had the highest score for diagnostic confidence ( P < 0.05), and mean reconstruction times were 5.1 ± 2.3 s for FBP and ASIR and 15.1 ± 2.4 min for MBIR. While CTA with MBIR in newborns and infants with CHD can reduce image noise and improve CNR more than other methods, it is more time-consuming than the other methods. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
40. Hilfsmittelversorgung bei Kindern und Jugendlichen.
- Author
-
Drisch, S., Simmel, S., Bühren, V., and Mödl, R.
- Abstract
Copyright of Trauma und Berufskrankheit is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2015
- Full Text
- View/download PDF
41. The Effect of Anesthetic Drugs on the Developing Fetus: Considerations in Non-Obstetric Surgery.
- Author
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Ginosar, Yehuda, Reynolds, Felicity, Halpern, Stephen, and Weiner, Carl P.
- Subjects
ANESTHESIA in obstetrics ,DRUG efficacy ,FETAL development ,FETAL surgery ,PREGNANCY complications - Abstract
Surgery is needed for non-obstetric conditions in 0.3 to 2% of pregnancies in the United States. Drug selection is important as some may affect the developing fetus, although the vast majority are safe. This chapter reviews the commonly used anesthetic agents and their effect on the developing fetus. [ABSTRACT FROM AUTHOR]
- Published
- 2013
- Full Text
- View/download PDF
42. Color-coded patient-specific physical models of congenital heart disease.
- Author
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Ejaz, Fariha, Ryan, Justin, Henriksen, Megan, Stomski, Lillee, Feith, Megan, Osborn, Michele, Pophal, Stephen, Richardson, Randy, and Frakes, David
- Subjects
CONGENITAL heart disease ,MEDICAL education ,RAPID prototyping ,STEREOLITHOGRAPHY ,HUMAN anatomical models ,THREE-dimensional imaging - Abstract
Purpose – The purpose of this study was to develop and apply new physical heart defect models (PHDMs) that are patient-specific and color-coded with an optimized map. Design/methodology/approach – Heart defect anatomies were segmented from medical images and reconstructed to form virtual models, which were then color-coded and rapid prototyped. The resulting PHDMs were used in a medical educational study to evaluate their pedagogical efficacy and in clinical case studies to investigate their utility in surgical planning. Findings – A growing library of 36 PHDMs (including the most common defects) was generated. Results from the educational study showed that the PHDMs enabled uniquely effective learning, and the clinical case studies indicated that the models added value as surgical planning aids. Research limitations/implications – The education study involved a limited number of students, so future work should consider a larger sample size. The clinical case studies favored use of the PHDMs in surgical planning, but provided only qualitative support. Practical implications – Workflow optimization is critical for PHDMs to be used effectively in surgical planning because some operations must be performed in emergently. Social implications – Because PHDMs have potential to influence surgeons’ actions as surgical planning aids, their use in that context must be thoroughly vetted. Originality/value – The proposed models represent the first PHDMs that are patient-specific and fully color-coded with a standardized map optimized for the human visual system. The models enhanced medical education and facilitated effective surgical planning in this study. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
43. An unusual colon atresia in a calf: at the junction of the distal loop and transverse colon. A brief overview.
- Author
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Lombardero, Matilde and Yllera, María del Mar
- Subjects
INTESTINAL atresia ,CALVES ,CATTLE diseases ,COLON abnormalities ,EMBRYOLOGY ,DONOR blood supply - Abstract
Congenital defects are those abnormalities present at birth. During embryogenesis, many anomalies can occur. The primitive gut tube lengthens quickly and rotates, allowing the gastrointestinal tract acquire its final position and orientation. Because the colon of large animals is complex, most changes occur in this segment. Thus, in ruminants, colon atresia is the most frequent malformation, affecting mainly ascending colon, at the level of the spiral loop. There are no previous references about a very atypical colon atresia at the junction of distal loop and transverse colon, such we have described in a 5-day-old calf, after a history of abdominal distention and absence of feces at birth, even with a patent anal opening. Atresia coli was detected at distal position of the typical colon atresia, at the junction of distal loop and transverse colon. In addition, the distal blind end was bent into a U-shape supported by the mesocolon. Besides the anatomical findings of this worthwhile atresia coli we discuss its possible etiology, in which local factors, such as a compromised blood supply during embryogenesis, are more consistent than genetic factors. Finding out the causes of atresia coli would help to reduce its incidence, lessen animal suffering and economic loss. [ABSTRACT FROM PUBLISHER]
- Published
- 2014
- Full Text
- View/download PDF
44. Morbilidad por defectos bucomaxilofaciales en las provincias orientales durante el período 2000-2013.
- Author
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Cordero García, Sandra
- Abstract
Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2014
45. CONGENITAL DEFECTS OF THE FLEXOR DIGITORUM PROFUNDUS TENDON OF THE LITTLE FINGER.
- Author
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Fukuoka, Masatoshi, Takayama, Shinichiro, and Seki, Atuhito
- Subjects
FLEXOR tendons ,TENDON diseases ,FINGER abnormalities ,METACARPOPHALANGEAL joint ,HEALTH outcome assessment - Abstract
The cases of two patients, a four-year-old boy and an eight-year-old boy, who had been incapable of active flexion of the little finger since birth, are presented. They were capable of active flexion of the metacarpophalangeal (MP) joint, but not of the proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints. They were diagnosed with a defect of the flexor digitorum profundus (FDP) tendon of the little finger and underwent surgery. In both cases, the FDP tendon turned into fibrous tissue proximal to the palm and lost continuity on this side. Reconstruction was performed by making an end-to-side anastomosis of the residual proximal end of the FDP tendon to the FDP tendon of the ring finger in the palmar region. Although one patient required repeated surgery due to post-operative tendon adhesion, good outcomes were achieved, with both patients becoming capable of active flexion. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
46. Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005.
- Author
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Jackson, Jodi M., Crider, Krista S., Cragan, Janet D., Rasmussen, Sonja A., and Olney, Richard S.
- Abstract
The prevalence of trisomy 21 has been reported to differ by race-ethnicity, however, the results are inconsistent and the cause of the differences is unknown. Using data from 1996 to 2005 from the Metropolitan Atlanta Congenital Defects Program (MACDP), we analyzed the use of prenatal cytogenetic testing and the subsequent use of elective termination among pregnancies affected with any MACDP-eligible birth defect and trisomy 21, by maternal race-ethnicity. We then examined whether these factors could explain the observed differences in the prevalence of trisomy 21 among race-ethnicity groups. Among all pregnancies with birth defects, prenatal cytogenetic testing as well as elective terminations after an abnormal prenatal cytogenetic test result were observed less frequently among Hispanic women than among non-Hispanic white women (odds ratio [OR] 0.66, 95% confidence interval [CI] 0.56-0.78, respectively). In pregnancies affected by trisomy 21, both the Hispanic and the non-Hispanic black populations had more live births (89.5% and 77.8%, respectively) and fewer elective terminations (5.7% and 15.2%, respectively) compared to the non-Hispanic white population (63.0% live births, 32.3% elective terminations). After adjusting for elective terminations, non-Hispanic white mothers had a higher live birth prevalence of trisomy 21 compared to non-Hispanic black (OR 0.64, 95% CI 0.54-0.76) or Hispanic mothers (OR 0.69, 95% CI 0.55-0.86). Overall, our data suggest that factors associated with decisions made about the use of prenatal testing, and about pregnancy management after testing, might play a large role in the race-ethnicity differences observed in the live birth prevalence of trisomy 21. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
47. Effect of calf death loss on cloned cattle herd derived from somatic cell nuclear transfer: Clones with congenital defects would be removed by the death loss.
- Author
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Watanabe, Shinya
- Subjects
CATTLE herding ,SOMATIC cells ,TRANSPLANTATION of cell nuclei ,CLONING ,HUMAN abnormalities ,LIVESTOCK ,VETERINARY medicine education - Abstract
To increase public understanding on cloned cattle derived from somatic cell nuclear transfer ( SCNT), the present review describes the effect of calf death loss on an SCNT cattle herd. The incidence of death loss in SCNT cattle surviving more than 200 days reached the same level as that in conventionally bred cattle. This process could be considered as removal of SCNT cattle with congenital defects caused by calf death loss. As a result of comparative studies of SCNT cattle and conventionally bred cattle, the substantial equivalences in animal health status, milk and meat productive performance have been confirmed. Both sexes of SCNT cattle surviving to adulthood were fertile and their reproductive performance, including efficiency of progeny production, was the same as that in conventionally bred cattle. The presence of substantial equivalence between their progeny and conventionally bred cattle also existed. Despite these scientific findings, the commercial use of food products derived from SCNT cattle and their progeny has not been allowed by governments for reasons including the lack of public acceptance of these products and the low efficiency of animal SCNT. To overcome this situation, communication of the low risk of SCNT technology and research to improve SCNT efficiency are required. [ABSTRACT FROM AUTHOR]
- Published
- 2013
- Full Text
- View/download PDF
48. Les hypogonadismes hypogonadotrophiques congénitaux masculins, quelles données récentes ?
- Author
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Ansari, N.
- Abstract
Copyright of Andrologie (11662654) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2011
- Full Text
- View/download PDF
49. Maternal Nickel Exposure and Congenital Musculoskeletal Defects.
- Author
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Arild, Vaktskjold, Vasiljevna, Talykova Ljudmila, Petrovitsj, Chashchin Valerij, Öyvind, Odland Jon, and Evert, Nieboer
- Subjects
OBSTETRICAL research ,HAZARDOUS substance exposure ,NICKEL ,HAZARDOUS substances ,EMPLOYMENT of pregnant women ,WORK environment ,HUMAN abnormalities ,NEWBORN infants ,MUSCULOSKELETAL system abnormalities - Abstract
The article presents a study which aims to know if women who are occupationally exposed to nickel in early pregnancy are at elevated risk of delivering a newborn with a malformation or deformation of the musculoskeletal system. Researchers used data from the Kola Birth Register (KBR), including those that concern the newborns, maternal occupation and workplace. They found that three hundred and four infants were diagnosed with isolated musculoskeletal defects at birth. They discovered high incidence of defects in the musculoskeletal system at birth. However, they found no effect of maternal exposure to water-soluble nickel on the risk of delivering a newborn with a defect.
- Published
- 2008
- Full Text
- View/download PDF
50. Impacto emocional en las parejas a quienes se informa que su feto tiene defectos congénitos.
- Author
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Mota González, Cecilia, Aldana Calva, Evangelina, Eugenia Gómez López, María, AntonioSánchez Pichardo, Marco, and González Campillo, Guillermo
- Subjects
PREGNANCY complications ,HUMAN abnormalities ,FETAL abnormalities ,HUMAN embryo abnormalities ,PRENATAL diagnosis ,DIAGNOSIS of fetal diseases ,HEALTH care intervention (Social services) ,GRIEF ,PSYCHOLOGY - Abstract
Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2008
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