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Congenital segmental absence of bowel muscle layer which is also known as Segmental absence of intestinal musculature (SAIM) is rare cause of obstruction in neonates and exceedingly rare in adults. We present 35 years old male with right iliac fossa (RIF) pain since 7 daysandnot passing stool since 3 days, was operated with suspicion of intestinal tuberculosis (TB). Our case shows two rare anomalies, SAIM and duplication in single patient which makes itunique. Histopathologically it was diagnosed as Congenital segmental absence of bowel muscle layer with duplication of bowel wall.

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: Congenital segmental absence of bowel muscle layer which is also known as Segmental absence of intestinal musculature (SAIM) is rare cause of obstruction in neonates and exceedingly rare in adults. We present 35 years old male with right iliac fossa (RIF) pain since 7 daysandnot passing stool since 3 days, was operated with suspicion of intestinal tuberculosis (TB). Our case shows two rare anomalies, SAIM and duplication in single patient which makes itunique. Histopathologically it was diagnosed as Congenital segmental absence of bowel muscle layer with duplication of bowel wall. [ABSTRACT FROM AUTHOR]

Objective: To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis. Methods: A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock's formula] + 185 g × [X/7]) where X was the number of days to delivery. Results: During the study period 41 cases were identified. The median maternal age was 25. The median BMI was 25 and 63% were primiparous women (n = 26). Median gestation at diagnosis was 21 weeks. Median gestation at delivery was 36 weeks. A total of 4.8% of mothers had a history of drug use (n = 2). The rate of maternal tobacco use was 21.9% (n = 9). A total of 4.8% of fetuses had additional congenital anomalies including amniotic band syndrome and myelomeningocele (n = 2). Estimated fetal weight (EFW) and birth weight data were available for 34 cases. A Wilcoxon signed‐rank test showed projected EFW using Hadlock's formula did not result in a statistically significant different birth weight (Z = −1.3, P = 0.169). Median projected weight and actual birth weight were 2241.35 and 2415 g respectively. Median difference was 0.64 g (95% CI: −148 to −28.5). Conclusion: Our data showed accuracy using standard formulae for EFW in fetuses with gastroschisis. Synopsis: Our study shows accuracy using standard formulae such as Hadlock's formula for estimating fetal weight in fetuses with abdominal wall defects such as gastroschisis. [ABSTRACT FROM AUTHOR]

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]

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]

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 cross-sectional 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 socio-demographic 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 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.

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]

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]

The clinical case of a one-year-old miniature Bull Terrier is presented. The patient was brought to the cardiology service of the Small Animal Clinic at the Universidad Nacional de Colombia due to historical syncopal episodes during exercise or moments of excitement, as well as at rest. Additionally, these syncopal episodes have increased in frequency to the point of daily occurrence. Echocardiography reveals thickening of the interventricular septum and the free wall of both ventricles. Additionally, irregular enlargement is evidenced in the mass of the papillary muscles of the left ventricle, which are distributed concentrically to the ventricular cavity, as well as a thickened mitral valve, which neither closes nor opens correctly causing mitral insufficiency and regurgitant flow to the left atrium. Similarly, narrowing of the left ventricular outflow tract and increased echogenicity in the aortic valve are observed, which, similarly to the mitral valve, is unable to open properly. The findings suggest congenital mitral valve dysplasia leading to stenosis, accompanied by aortic stenosis. Due to the absence of surgical intervention options, therapy aims to control existing clinical signs and halt the progression of cardiac enlargement using beta-blockers. [ABSTRACT FROM AUTHOR]

Introduction: Single Umbilical Artery (SUA) is a congenital anomaly that can occur either as an isolated finding or in association with other systemic anomalies. Several studies have reported that SUA is linked to dysplastic kidneys, ventricular septal defects, oesophageal atresia, spina bifida, diaphragmatic hernia and cystic hygromas. Therefore, investigating cases of SUA in autopsies is crucial. Aim: To estimate the frequency of SUA in foetal autopsies and determine the association between SUA and other systemic anomalies. Materials and Methods: The present ambispective observational study was conducted in the Department of Pathology, Shri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India, over a 13 year period from January 2009 to December 2021. A total of 63 cases of SUA detected during foetal autopsies were included. Factors such as age, parity and multiple births were collected where available. The hospital-based frequency of SUA was calculated as a percentage. The association between SUA and systemic anomalies was assessed using the Chi-square test. Results: A total of 1338 perinatal autopsies were performed during the study period, with SUA present in 63 (4.70%) cases. The most common associated anomaly was genitourinary defects identified in 16 (25.39%) cases. However, a statistically significant association was observed with musculoskeletal (11.11%), nervous (11.11%), and gastrointestinal system anomalies (19.04%) with a p-value of

Sintayehu Mekonnen,1,2 Hawi Farris,3 Daniel Azmeraw1 1Department of Internal Medicine, All Africa Leprosy, Tuberculosis and Rehabilitation Training Center, Addis Ababa, Ethiopia; 2Department of Gastroenterology and Hepatology, Addis Ababa University College of Health Science, Addis Ababa, Ethiopia; 3Department of Radiology, Addis Ababa University College of Health Science, Addis Ababa, EthiopiaCorrespondence: Sintayehu Mekonnen, Email sintu04mekonnen@gmail.comAbstract: 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.Keywords: pericardium, congenital defect, echocardiography

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]

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.

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]

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.

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: ten¬don 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. Conclusion: 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 cor¬rected by surgical intervention; however, early diagnosis and the use of proper surgical techniques are crucial for improving the prognosis. [J Adv Vet Anim Res 2023; 10(1.000): 88-95]

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.

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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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.

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]

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]

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]

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.

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]

The aim of the study was to analyze the results of the screening for birth defects, genetically determined diseases and preimplantation genetic testing of embryos. Methods: Retrospective analysis of health services for 2,637 pregnant women from January-December 2022. Results: In screening for birth defects and genetic fetal diseases, 216 woman were found to have an abnormality requiring further clinical management, 15 (7%) of them were diagnosed with a congenital fetal developmental defect (Tab. 2). Among 377 ovarian punctions performed within IVF cycle, preimplantation genetic testing (PGT) was indicated in 48 (12.7%) cases and in 19 (5%) cases PGT was indicated on account of a genetic disorder (Tab. 3). Conclusion: screening for congenital developmental defects and genetic diseases allows subsequent management of the detected pathologies through preimplantation genetic testing of embryos when planning the next pregnancy or planning adequate prenatal diagnosis of future pregnancies. [ABSTRACT FROM AUTHOR]

Background: A bipartite atlas is a rare congenital anomaly characterized by incomplete fusion of the anterior and posterior arches of the first cervical vertebra (C1). While typically asymptomatic, this condition can result in cervical myelopathy when accompanied by degenerative changes. This report presents a rare case of cervical myelopathy caused by a bipartite atlas in an older patient that required surgical intervention., Observations: A 63-year-old male presented with progressive neurological symptoms, including impaired fine motor skills, pain, and paresthesias in both the upper and lower extremities. Imaging revealed a bipartite atlas accompanied by degenerative changes, resulting in significant spinal cord compression. The patient underwent a posterior decompression via C1 laminectomy and duraplasty, resulting in significant clinical improvement and a resolution of symptoms., Lessons: This case highlights the importance of recognizing a bipartite atlas as a potential cause of cervical myelopathy, particularly in older patients with degenerative changes. This is a rare case in which congenital and degenerative factors are intertwined, underscoring the importance of a comprehensive pathological analysis and the development of a personalized treatment strategy. Prompt diagnosis and appropriate surgical intervention are essential for favorable outcomes. https://thejns.org/doi/10.3171/CASE24688.

Developmental defects of the ventral abdominal wall, such as gastroschisis, have been associated with prenatal stress exposure. To investigate this further, dexamethasone (DEX), a synthetic glucocorticoid, was administered to fertilized chicken eggs on day 1 of incubation to simulate stress, and embryonic development was subsequently analyzed through in-situ hybridization, immunohistochemistry, and histological methods. Significant developmental abnormalities were displayed by DEX-treated embryos, including open abdomens, reduced MYOG expression in the abdominal wall, and disrupted muscle fiber formation, as indicated by altered Myosin heavy chain patterns. Additionally, early markers of muscle development, such as Pax3, and the CXCR4-SDF-1 signaling axis, crucial for the migration of myogenic precursors of the dermomyotome, were markedly affected. Significant alterations in the expression of mesenchymal markers, including Vimentin and Fibronectin in the lateral plate mesoderm, were observed, alongside alterations in Pitx2, BMP4 and TFAP2A expression. Importantly, a downregulation of Glucocorticoid Receptors was identified, emphasizing the chronic stress exposure. These results provide critical insights into how DEX interferes with key developmental pathways, particularly those involving chemokines like CXCR4 and SDF-1, and other markers of mesodermal differentiation. An advancement in the understanding of the mechanisms underlying ventral abdominal wall defects in the context of prenatal stress is provided by this research, with potential implications for preventing these congenital anomalies., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

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]

Introduction: Cleft lip with or without cleft palate (CLP) is one of the most common congenital defects in the orofacial region. Many factors are involved in the occurrence of cleft lip in newborns including genetic and environmental factors. The prevalence of this anomaly varies in different races and countries. Therefore, this study aimed to determine the prevalence of this disorder in newborns in Bu Ali, Hekmat, and Amir Mazandarani Hospitals in Sari, Iran, during 2004-2018. Materials and Methods: This descriptive-analytical study was carried out using information obtained from the records of patients in Imam, Hekmat, and Amir Mazandarani health centers in Sari, Iran. The number of patients with CLP was extracted from the information in the record files. Afterward, information related to infant and mother, such as gender, birth weight, maternal age, the cases of consanguine marriage, family history of CLP, history of drug use in the first trimester of pregnancy, the history of smoking and alcohol consumption were also recorded to investigate the factors related to CLP. Results: A total of 65,522 births were recorded at the three abovementioned health centers during 14 years, of which 80 infants were born with a variety of CLP anomalies. The overall CLP prevalence in this study was estimated at 1.2 per 1,000 births. It should be noted that 52.5% (n=42) and 47.5% (n=38) of these cases had CLP and CL, respectively. No cases of isolated cleft palate were observed. Furthermore, 71.3% (n=57) of all CLP cases occurred unilaterally. In total, 86.3% of the studied infants weighed over 2,500 gr at birth and 72.5% of mothers aged under 30 years at childbirth. Conclusion: Based on the obtained results, the overall prevalence of oral clefts in the studied population was 1.2 per 1,000 births and mostly occurred unilaterally.

An 18-year-old male presented with a 6-month history of paresthesia of both arms and legs after a minor neck trauma. CT scan revealed a partial aplasia of the anterior and posterior arches of the C1 vertebra resulting in a split atlas. MRI showed an intramedullary high-signal area. We performed a posterior decompressive laminectomy and occipitocervical fusion. The bony defect into the posterior arch was replaced by a connective tissue cord, resulting in a compression of the dural sheath. The symptoms recovered completely 1 month after surgery. Knowledge of this rare malformation is crucial to the correct management of these cases.

An 11-month-old Staffordshire Bull Terrier was referred with a two-month history of fluctuating unilateral jugular groove swelling, which appeared to enlarge after exercise. There was no history of trauma. Multimodal imaging findings (using transdermal and transesophageal ultrasound and dual phase computed tomography angiography) were consistent with large, saccular, left jugular vein aneurysm, running parallel to the left carotid artery. There did not appear to be any arteriovenous communication present. There were no cardiac abnormalities found on echocardiography. Following surgical excision, histopathological analysis supported the clinical suspicion of a congenital external jugular venous aneurysm. [ABSTRACT FROM AUTHOR]

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]

An increasing number of patients with congenital heart disease (CHD) survive into adulthood but develop long-term complications including heart failure (HF). Cellular senescence, classically defined as stable cell cycle arrest, is implicated in biological processes such as embryogenesis, wound healing, and aging. Senescent cells have a complex senescence-associated secretory phenotype (SASP), involving a range of pro-inflammatory factors with important paracrine and autocrine effects on cell and tissue biology. While senescence has been mainly considered as a cause of diseases in the adulthood, it may be also implicated in some of the poor outcomes seen in patients with complex CHD. We propose that patients with CHD suffer from multiple repeated stress from an early stage of the life, which wear out homeostatic mechanisms and cause premature cardiac aging, with this term referring to the time-related irreversible deterioration of the organ physiological functions and integrity. In this review article, we gathered evidence from the literature indicating that growing up with CHD leads to abnormal inflammatory response, loss of proteostasis, and precocious age in cardiac cells. Novel research on this topic may inspire new therapies preventing HF in adult CHD patients.

Introduction: The development reached by teratology as science and the clinical observations made by the scientists, allowed to establish their principles, represented by a series of factors that determine the capacity of an agent to cause congenital dysfunctions, which are at the moment of great utility and importance in the training of health professional and rebound in the Infantile Maternal Care Program. Objective: To describe the teratogen agents associated with the appearance of congenital defects. Methods: A literatura review was carried out about the teratogen agents and their possible teratogenic effects in the LILACS, SciELO, Clinicalkey databases and Academic Google, as well as in the platform Virtual Library in Health. Results: The consequences of the exhibition to the teratogen depend, among other things, of the moment in which is the gestation process. There are multiple teratogen agents and some risk factors that frequently concomitan with them, for what should be considered in the primary prevention to diminish alterations and congenital defects for these environmental noxas. Final considerations: The knowledge of the effects of the agents teratogen allows to value the possible damage to the fetus. [ABSTRACT FROM AUTHOR]

Abstract Background The case report describes a rare congenital anomaly, crossed fused renal ectopia (CFRE), with coexistence of two other abnormalities – atypical portal vein and coccygeal vertebrae malformation in a domestic cat. The concomitance of those 3 congenital defects has not been described previously. Case presentation An 8-month-old female, domestic cat suffering from chronic diarrhea was referred to the diagnostic imaging unit. The patient showed no other clinical symptoms. An abdominal ultrasonographic examination was performed in order to evaluate the condition of abdominal organs, particularly the gastrointestinal tract. The ultrasound examination showed an ectopic duplex kidney at instead of kidneys in their typical location. Computed tomography (CT) with angiographic phase and excretory urography was requested to evaluate the condition of the kidneys and ureters. The final diagnosis was CFRE, atypical portal vein and coccygeal deformation in an asymptomatic cat with no changes in renal function and normal blood parameters. Conclusions Crossed fused renal ectopia is a rare congenital anomaly and is easily detectable by an abdominal ultrasonographic examination and CT, which allows more complete assessment of both anatomical relations and secretory function of the kidney. The occurrence of CFRE, abnormal portal vein and spinal malformation in a clinically healthy patient is the evidence that congenital malformations may simultaneously involve various, not directly related structures and systems, without significant influence on blood and urine parameters. Thus the most useful tool in the evaluation of the morphological and functional changes is the diagnostic imaging, especially contrast enhanced CT. Our results show that renal fusions should be considered in the differential diagnosis of caudal abdominal masses.

Gastroschisis is a rare congenital defect of the ventral abdominal wall through which abdominal contents herniate outside of the body without a peritoneal sac. The most common location of the defect is to the right of the umbilicus, however, there have been case reports of defects in alternate locations along the abdominal wall, particularly on the left side. Here we describe a case of a baby born with a gastroschisis-like defect in the midline supraumbilical abdominal wall, the only such case described in the literature, to our knowledge. The defect was small with herniated bowel and loss of domain in the abdomen requiring delayed closure with a silo. Cases of gastroschisis in unusual locations bring into question the pathogenesis of such defects, a topic which remains controversial.

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]

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]

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]