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Plain language summary: Structural differences (congenital anomalies) in the makeup of the baby's heart, brain and other organs are found on antenatal ultrasound scans in up to 3% of pregnancies. These often have a genetic cause, arising because of changes in the chromosomes (which store our genetic material) or the DNA code that make up the genes. The more differences a baby has the more likely the risk of underlying genetic disease. If a structural difference is found, parents are usually offered a genetic test, which may be carried out on cells taken either from the placenta (chorionic villous sampling) or the fluid surrounding the baby (amniocentesis). At the moment, these cells are only tested for changes in the chromosomes and are only able to reveal the underlying cause in about 40% of unborn babies. Prenatal exome sequencing (ES) is a new genetic test, which, when combined with testing the DNA of both parents can find changes in the baby's genetic code. If a DNA change is found that can explain the structural changes seen on ultrasound, specific information about the underlying diagnosis can be given to the parents. Having this information can help parents make important decisions about their ongoing pregnancy, as well as help doctors to care for the mother and baby. Finding a genetic change can also help to understand how the condition has arisen and whether it might happen again in another pregnancy. It may also be possible to test for the genetic condition in future pregnancies. Although prenatal ES is an exciting new way to improve diagnosis rates for structural differences, it has some challenges. While the test is very detailed, it may not always find a genetic explanation and sometimes the results are difficult to interpret. For example, genetic changes can be found where their significance for the pregnancy is unclear. More recently, two studies have now shown that prenatal ES can find a genetic diagnosis in at least 10% of pregnancies with structural differences where standard chromosome testing has been negative. This paper reviews these studies, along with earlier evidence on ES and provides clinicians with guidance for future practice. [ABSTRACT FROM AUTHOR]

The intent of this study is to discuss the most prominent literature in craniofacial surgery. To do so, using the ISI Web of Science, a ranking by average number of citations per year of the top 50 craniofacial surgery articles was compiled. All plastic surgery journals listed in the “Surgery” category in the ISI Web of Knowledge Journal Citation Reports 2013 Science Edition were considered. Journal of publication, country of origin, collaborating institutions, topic of interest, and level of evidence were analyzed. The total number of citations ranged from 47 to 1017. Average number of citations per year ranged from 46.2 to 8.6. The oldest article in the top 50 was published in 1988 and the most recent in 2009. The majority of the articles came from Plastic and Reconstructive Surgery with 28 of the 50. The majority of the articles, originated from the United States (56%). Reconstruction of acquired defects was the most commonly examined topic at 46.2%; followed by articles discussing reconstruction of congenital defects (23.1%). The most common level of evidence was level 3. This extensive examination of the craniofacial literature highlights the important part that craniofacial surgery takes in the field of plastic surgery. [ABSTRACT FROM AUTHOR]

Abstract: Aims: To review the available literature regarding patency rates and complications of the brachial-basilic arterio-venous fistula (BBAVF) and to discuss this with relation to the current dialysis outcomes quality initiative guidelines. Methods: An internet based literature search was performed using Pubmed, Medline and Medscape databases to identify all published reports of the BBAVF in the English language from which the full articles were retrieved and cross-referenced. Results: Of 136 papers identified, 28 were directly relevant to this review including four prospective studies (one randomised trial, three non-randomised trials) and 24 retrospective studies. First described by Dagher in 1976, the BBAVF has since been modified to a two-stage procedure with initial fistula formation followed by superficialisation of the basilic vein 6 weeks later. It can be formed successfully in 95% of cases. Mean 1-year primary and secondary patency rates were 72 and 74.6%, respectively. Complications included haematoma (3.8%), stenosis (2.3%), thrombosis (9.7%), transient arm oedema (3.7%), steal syndrome (2.9%) and aneurysm/pseudoaneurysm formation (1.9%). The BBAVF had a lower rate of infection than prosthetic fistulas (3.6 vs. 16%). Conclusions: The BBAVF has good primary and secondary patency rates with lower rates of infection than prosthetic fistulas making it a preferred secondary access procedure. [Copyright &y& Elsevier]

Alpha-fetoprotein (AFP) is a fetal protein that can indicate congenital anomalies such as Down syndrome and spinal canal blockage when detected at abnormal levels in pregnant women. Current AFP detection methods rely on invasive blood or serum samples, which require sophisticated equipment. From the many solutions proposed, colorimetric paper-based assays excel in point-of-care settings. The concept of paper-based ELISA (p-ELISA) enhances traditional methods, aligning with the ASSURED criteria for diagnostics in resource-limited regions. Despite success in microfluidic paper-based assay devices, laser printing remains underexplored for p-ELISA. Additionally, modifying the paper surface provides an additional layer of sensitivity enhancement. In this study, we developed a novel laser-printed paper-based ELISA (LP-pELISA) for rapid, sensitive, and noninvasive detection of AFP in saliva samples. The LP-pELISA platform was fabricated by printing hydrophobic barriers on filter paper using a laser printer, followed by depositing hydroxyapatite (HAp) as an immobilization material for the antibodies. The colorimetric detection was achieved using AuNPs functionalized with anti-AFP antibodies and silver nitrate enhancement. The LP-pELISA exhibited a linear response for AFP detection in both buffer and saliva samples over a range of 1.0–800 ng mL−1, with a limit of detection (LOD) reaching 1.0 ng mL−1. The assay also demonstrated good selectivity, repeatability, reproducibility, and stability. The LP-pELISA was further validated by testing spiked human saliva samples, showing its potential for point-of-care diagnosis of congenital disabilities. The LP-pELISA is a noninvasive platform showcasing simplicity, cost-effectiveness, and user-friendliness, utilizing laser printing, hydroxyapatite modification, and saliva samples to efficiently detect AFP. Beyond its application for AFP, this method's versatility extends to other biomarkers, positioning it as a catalyst for the evolution of paper-based biosensors. The LP-pELISA holds promise as a transformative tool for point-of-care diagnostics, fostering advancements in healthcare with its innovative technology. [Display omitted] • The study introduces laser printing to create paper-based ELISA. • Hydroxyapatite was used to immobilize antibody binding and enhance assay performance. • Colorimetric detection using silver-enhanced AuNPs for rapid and sensitive readout. • The LP-pELISA shows a high Greenness score aligning with ecofriendly practices. [ABSTRACT FROM AUTHOR]

The article presents information related to the scientific papers discussed in workshops which will be held on April 30, 2004. The topics to be discussed in session II are--'Storytelling: A Key to Excellence in Leadership and Education,' by Richard B. Gunderman, 'Masters Session on Pediatric Uroradiology,' by Robert L. Lebowitz, 'Balancing Life and Work: A Career Planning Workshop for Physicians,' by Peter S. Moskowitz. In the scientific paper 'Interventional Radiology: Liver and Renal,' by Charles A. James, it was mentioned that pediatric urinary tract obstruction is usually secondary to congenital anomalies and less commonly due to obstruction following surgical repair.

This report is the SOSORT Consensus Paper on School Screening for Scoliosis discussed at the 4th International Conference on Conservative Management of Spinal Deformities, presented by SOSORT, on May 2007. The objectives were numerous, 1) the inclusion of the existing information on the issue, 2) the analysis and discussion of the responses by the meeting attendees to the twenty six questions of the questionnaire, 3) the impact of screening on frequency of surgical treatment and of its discontinuation, 4) the reasons why these programs must be continued, 5) the evolving aim of School Screening for Scoliosis and 6) recommendations for improvement of the procedure. [ABSTRACT FROM AUTHOR]

The article presents a list of the abstracts of selected papers from the current medical literature. Some of the abstracts are: "Perforations and fistulae in gastrointestinal tuberculosis," "Magnetic resonance imaging of the effects of infliximab on perianal fistulizing Crohn's disease," "Bowel wall thickening in patients with Crohn's disease: CT patterns and correlation with inflammatory activity," "Magnetic resonance imaging of anatomic and dynamic defects of the pelvic floor in defecatory disorders," "Risk of pancreatic adenocarcinoma in chronic pancreatitis," "Percutaneous management of renal pelvic urothelial tumors: longterm followup," etc.

Congenital uterine anomalies (CUAs) are malformations of the womb that develop during fetal life. When a baby girl is in her mother's womb, her womb develops as two separate halves from two tubular structures called 'müllerian ducts', which fuse together before she is born. Abnormalities that occur during the baby's development can be variable from complete absence of a womb through to more subtle anomalies, which are classified into specific categories. While conventional ultrasound is good in screening for CUAs, 3D ultrasound is used to confirm a diagnosis. If a complex womb abnormality is suspected, MRI scanning may also be used, with a combination of laparoscopy in which a camera is inserted into the cavity of the abdomen, and hysteroscopy, when the camera is placed in the womb cavity. As there can be a link between CUAs and abnormalities of the kidney and bladder, scans of these organs are also usually requested. Although CUAs are present at birth, adult women typically do not have any symptoms, although some may experience painful periods. Most cases of CUA do not cause a woman to have difficulty in becoming pregnant and the outcome of pregnancy is good. However, these womb anomalies are often discovered during investigations for infertility or miscarriage. Moreover, depending upon the type and severity of CUA, there may be increased risk of first and second trimester miscarriages, preterm birth, poor growth of the baby in the mother's womb (fetal growth restriction), pre-eclampsia and difficult positioning of the baby for birth (fetal malpresentation). Surgical treatment is only recommended to a woman who has had recurrent miscarriages and has a septate uterus, i.e., the womb cavity is divided by a partition. In this case, surgery may improve her chances for a successful pregnancy, although the risks of surgery, especially scarring of the womb should be considered. However, further evidence from randomised controlled trials are required to provide conclusive evidence-based recommendations for surgical treatment for septate uterus. Surgical treatment for other types of CUAs is not usually recommended as the risks outweigh potential benefits, and evidence for any benefits is lacking. Women with CUAs may be at an increased risk of preterm birth even after surgical treatment for a septate uterus. These women, if suspected to be at an increased risk of preterm birth based on the severity of CUA, should be followed up using an appropriate protocol for preterm birth as outlined in UK Preterm Birth Clinical Network Guidance.1 >. [ABSTRACT FROM AUTHOR]

It is a major clinical and public health problem that there is no clear strategy as to how we best make use of information obtained when pregnant women take drugs. For this reason, some pregnant women are not treated as they should be and some are given drugs they should not use. We suggest a monitoring system that combines some of the available datasets in Europe. Using these sources as a starting point, one can develop a system that has sufficient power to detect even rare diseases like congenital malformations and sufficient diversity to detect several possible outcomes from spontaneous abortions to childhood disorders. We also suggest that case-crossover designs should be used in case-control monitoring systems that carry a high risk of recall bias. These considerations are based upon our results from a European Union-funded concerted action called EuroMaP (Medicine and Pregnancy). [ABSTRACT FROM AUTHOR]

Background: This report is the SOSORT Consensus Paper on Terminology for use in the treatment of conservative spinal deformities. Figures are provided and relevant literature is cited where appropriate. Methods: The Delphi method was used to reach a preliminary consensus before the meeting, where the terms that still needed further clarification were discussed. Results: A final agreement was found for all the terms, which now constitute the base of this glossary. New terms will be added after being discussed and accepted. Discussion: When only one set of terms is used for communication in a place or among a group of people, then everyone can clearly and efficiently communicate. This principle applies for any professional group. Until now, no common set of terms was available in the field of the conservative treatment of scoliosis and spinal deformities. This glossary gives a common base language to draw from to discuss data, findings and treatment. [ABSTRACT FROM AUTHOR]

Simple Summary: Much research has been conducted on the causes of childhood cancer, but many areas of uncertainty remain. We conducted a detailed search of recent studies investigating the causes of childhood cancer. Our findings, based on publications from 2014 to 2021, are summarized by topic in three separate papers: factors acting during childhood (Paper 1), factors relating to the parents and pregnancy (Paper 2), and factors relating to the environment (Paper 3). In this first paper, we summarize convincing evidence from studies that show increased childhood cancer risk associated with genetic cancer predisposition, birth defects, prior cancer, medical ionizing radiation, organ transplantation and exposure to cancer-causing viruses, and a reduced risk associated with some childhood vaccinations. Other factors discussed in this paper include the impact of the child's diet, allergies, medications, and body mass index. This review of factors associated with childhood cancer may help evidence-based efforts to reduce cancer in our pediatric populations. Purpose: To review the childhood risk factors for pediatric cancer (diagnosis before age 20). Methods: We conducted literature searches using Ovid Medline and Scopus to find primary research studies, review articles, and meta-analyses published from 2014 to 3 March 2021. Results: Strong evidence indicates that an array of genetic and epigenetic phenomena, structural birth defects, and chromosomal anomalies are associated with an increased risk of various childhood cancers. Increased risk is also associated with prior cancer, likely due to previous treatment agents and therapeutic ionizing radiation. Convincing evidence supports associations between several pediatric cancers and ionizing radiation, immunosuppression, and carcinogenic virus infection both in healthy children and in association with immune suppression following organ transplantation. Breastfeeding and a childhood diet rich in fruits and vegetables appears to reduce the risk of pediatric leukemia but the evidence is less strong. Childhood vaccination against carcinogenic viruses is associated with a lower risk of several cancers; there is less strong evidence that other childhood vaccinations more broadly may also lower risk. Ultraviolet (UV) radiation is associated with increased melanoma risk, although most melanomas following childhood UV exposure occur later, in adulthood. Evidence is weak or conflicting for the role of body mass index, other childhood infections, allergies, and certain treatments, including immunomodulator medications and human growth therapy. [ABSTRACT FROM AUTHOR]

Introduction and aim. Progressive ossifying myositis ossifi- cans (FOP) is an extremely rare, genetic disease that leads to disability and premature death. It is inherited in an autosomal dominant fashion, caused by mutations in the ACVR1 gene, which encodes the activin receptor-like kinase ALK2. It is characterized by progressive heterotopic ossification (HO) of the endochondral tissue, skeletal muscles, fascia, tendons and ligaments, and congenital malformations of the big toes, leading to deformities and loss of trunk mobility, joint contractures in the limbs, and limited ability to open the mouth. Material and methods. Suspicion of FOP is diagnosed on the basis of toe malformation and heterotopic ossification, therefore in such cases the diagnosis of FOP should be implemented, based on the presence of a heterozygous pathogenic variant in the ACVR1/ALK2 gene. Analysis of literature. Currently, therapy focuses on the treatment of relapses with glucocorticoids and non-steroidal anti-inflammatory drugs. Taking into account the different stages in the pathogenesis of the disease, it is possible to develop a treatment based on therapy targeted at specific processes. Saracatinib, an ALK2 inhibitor, shows promising results in preclinical models due to the fact that it has shown the ability to inhibit HO and is currently in the second phase of clinical trials. Rapamycin, an immunosuppressive drug, has been shown to slow HO in animal models of FOP. Palovarotene, a Phase 3 drug, by reducing bone morphogenetic protein signaling, may reduce heterotopic bone volume in FOP patients. Garetosmab, an antibody that binds to activin A, blocks its activity, so it can prevent the formation and inhibit the growth of HO. Conclusion. Despite many efforts, there is still no effective and specific treatment for FOP, therefore the cooperation of global centers is very important, which is of key importance in the development of targeted therapy against FOP. [ABSTRACT FROM AUTHOR]

It is the position of the International Nurses Society on Addictions that all nurses, in all settings, should be prepared to provide care to patients with alcohol use problems, especially for women of childbearing age. [ABSTRACT FROM AUTHOR]

Fetal hypoxia is a condition characterized by a lack of oxygen supply in a developing fetus in the womb. It can cause potential risks, leading to abnormalities, birth defects, and even mortality. Cardiotocograph (CTG) monitoring is among the techniques that can detect any signs of fetal distress, including hypoxia. Due to the critical importance of interpreting the results of this test, it is essential to accompany these tests with the evolving available technology to classify cases of hypoxia into three cases: normal, suspicious, or pathological. Furthermore, Machine Learning (ML) is a blossoming technique constantly developing and aiding in medical studies, particularly fetal health prediction. Notwithstanding the past endeavors of health providers to detect hypoxia in fetuses, implementing ML and Deep Learning (DL) techniques ensures more timely and precise detection of fetal hypoxia by efficiently and accurately processing complex patterns in large datasets. Correspondingly, this review paper aims to explore the application of artificial intelligence models using cardiotocographic test data. The anticipated outcome of this review is to introduce guidance for future studies to enhance accuracy in detecting cases categorized within the suspicious class, an aspect that has encountered challenges in previous studies that holds significant implications for obstetricians in effectively monitoring fetal health and making informed decisions. [ABSTRACT FROM AUTHOR]

In recent years, the usage of wearable systems in healthcare has gained much attention, as they can be easily worn by the subject and provide a continuous source of data required for the tracking and diagnosis of multiple kinds of abnormalities or diseases in the human body. Wearable systems can be made useful in improving a patient's quality of life and at the same time reducing the overall cost of caring for individuals including the elderly. In this survey paper, the recent research in the development of intelligent wearable systems for the diagnosis of peripheral neuropathy is discussed. The paper provides detailed information about recent techniques based on different wearable sensors for the diagnosis of peripheral neuropathy including experimental protocols, biomarkers, and other specifications and parameters such as the type of signals and data processing methods, locations of sensors, the scales and tests used in the study, and the scope of the study. It also highlights challenges that are still present in order to make wearable devices more effective in the diagnosis of peripheral neuropathy in clinical settings. [ABSTRACT FROM AUTHOR]

References 1 Galassi FM, Torrisi E, Varotto E (2021) Comment on Turgut et al.'s Three mythic giants for common fetal malformation called "cyclopia": Polyphemus, Tepegöz, and Grendel. Final notes on: Response to Galassi et al. concerning the paper by Turgut et al. "Three mythic giants for common foetal malformation called "cyclopia": Polyphemus, Tepegöz and Grendel", Child's Nervous System, DOI 10.1007/s00381-019-04,207-y When we asserted that Tepegöz is less universally known than Polyphemus or Grendel, by no means did we admit - as the authors in their reply seem to imply - our ignorance or limited knowledge on that mythological figure. [Extracted from the article]

The article presents a supplement to several papers by D. Gibson, R. J. Gibbons and H. F. Frank on mongolism. According to the author, the 13 cardinal mongol stigmata employed in the studies were evaluated at uniform chromatic aberration with the exemption of high confidence intervals and evidence of heart anomaly. He also notes that the columns on the difference in the mean age and Biserial correlation did not differ significantly from zero.

Cerebellar ataxias are a wide heterogeneous group of disorders that may present with fine motor deficits as well as gait and balance disturbances that have a significant influence on everyday activities. To review the ocular movements in cerebellar ataxias in order to improve the clinical knowledge of cerebellar ataxias and related subtypes. English papers published from January 1990 to May 2022 were selected by searching PubMed services. The main search keywords were ocular motor, oculomotor, eye movement, eye motility, and ocular motility, along with each ataxia subtype. The eligible papers were analyzed for clinical presentation, involved mutations, the underlying pathology, and ocular movement alterations. Forty-three subtypes of spinocerebellar ataxias and a number of autosomal dominant and autosomal recessive ataxias were discussed in terms of pathology, clinical manifestations, involved mutations, and with a focus on the ocular abnormalities. A flowchart has been made using ocular movement manifestations to differentiate different ataxia subtypes. And underlying pathology of each subtype is reviewed in form of illustrated models to reach a better understanding of each disorder. [ABSTRACT FROM AUTHOR]

Background: Classifications of AAFD/PCFD have evolved with an increased understanding of the pathology involved. A review of classification systems helps identify deficiencies and respective contributions to the evolution in understanding the classification of AAFD/PCFD. Methods: Using multiple electronic database searches (Medline, PubMed) and Google search, original papers classifying AAFD/PCFD were identified. Nine original papers were identified that met the inclusion criteria. Results: Johnson's original classification and multiple variants provided a significant leap in understanding and communicating the pathology but remained tibialis posterior tendon-focused. Drawbacks of these classifications include the implication of causality, linearity of progression through stages, an oversimplification of stage 2 deformity, and a failure to understand that multiple tendons react, not just tibialis posterior. Later classifications, such as the PCFD classification, are deformity-centric. Early ligament laxity/instability in normal attitude feet and all stages of cavus feet can present with pain and instability with minor/no deformity. These may not be captured in deformity-based classifications. The authors developed the 'Triple Classification' (TC) understanding that primary pathology is a progressive ligament failure/laxity that presents as tendon reactivity, deformity, and painful impingement, variably manifested depending on starting foot morphology. In this classification, starting foot morphology is typed, ligament laxities are staged, and deformity is zoned. Conclusions: This review has used identified deficiencies within classification systems for AAFD/PCFD to delink ligament laxity, deformity, and foot type and develop the 'Triple classification'. Advantages of the TC may include representing foot types with no deformity, defining complex secondary instabilities, delinking foot types, tendon reactivity/ligament instability, and deformity to represent these independently in a new classification system. Level of Evidence: Level V. [ABSTRACT FROM AUTHOR]

(1) Background: The rise in sedentary lifestyles has led to more spinal malformations in the population. These malformations are connected to the body's autonomic function, which can negatively impact long-term health. Heart rate variability can be used as a marker to measure how different postures affect autonomic health. This systematic review aims to explore the link between posture and heart rate variability and evaluate potential interventions to address the consequences of sedentary lifestyles. (2) Methods: Data sources: Studies exploring the relationship between posture and heart rate variability were found using PubMed, Embase, Web of Science, and Cochrane on 1 July 24. Eligibility criteria: People aged 18 years or above with a sedentary lifestyle were included. Studies involving children or participants with spinal/musculoskeletal conditions impacting their ability to walk or sit were excluded as they would not accurately reflect posture analysis. PRISMA guidelines were followed throughout, and the quality assessment was achieved using the QualSyst tool. (3) Results: Out of the 753 papers identified, only five met the eligibility criteria. These studies exhibited heterogeneity regarding interventions, aims, and participant populations. All five studies were prospective case series, enabling analysis and comparisons. (4) Conclusions: According to this study, the seated position, especially the forward truncal flexion, had the most significant impact on heart rate variability and sympathetic tone. It may be inferred that sedentary behavior encourages this stress on the body, which can affect one's health, increasing the mortality rate. [ABSTRACT FROM AUTHOR]

Since the 1950s, invasive prenatal diagnostics have played an integral role in perinatal management. However, its significance extends beyond detecting genetic abnormalities. This paper comprehensively reviews the indications for amniocentesis and chorionic villus sampling. Additionally, it examines various methods of genomic, infectious, and biochemical analysis, with a particular emphasis on the achievements of the last decade. [ABSTRACT FROM AUTHOR]

For example, the authors write " I ... Tepegöz, less universally known than those of Polyphemus or Grendel, ... i ", and thereby, they admit that they learned more information about the giant Tepegöz for the first time, whereas the mythological figures that we know more about are Tepegöz and the hero Basat as compared to others. Response to Galassi et al. concerning the paper by Turgut et al. "Three mythic giants for common foetal malformation called "cyclopia": Polyphemus, Tepegöz and Grendel", Childs Nervous System, DOI 10.1007/s00381-019-04,207-y All of the concerns raised by the authors are in the form of items as they are related to the semi-human giant Polyphemus and to the mythic hero Odysseus from ancient Greek literature. [Extracted from the article]

Background: In a considerable subgroup of glioma patients treated with (chemo) radiation new lesions develop either representing tumor progression (TP) or treatment-related abnormalities (TRA). Quantitative diffusion imaging metrics such as the Apparent Diffusion Coefficient (ADC) and Fractional Anisotropy (FA) have been reported as potential metrics to noninvasively differentiate between these two phenomena. Variability in performance scores of these metrics and absence of a critical overview of the literature contribute to the lack of clinical implementation. This meta-analysis therefore critically reviewed the literature and meta-analyzed the performance scores. Methods: Systematic searching was carried out in PubMed, EMBASE and The Cochrane Library. Using predefined criteria, papers were reviewed. Diagnostic accuracy values of suitable papers were meta-analyzed quantitatively. Results: Of 1252 identified papers, 10 ADC papers, totaling 414 patients, and 4 FA papers, with 154 patients were eligible for meta-analysis. Mean ADC values of the patients in the TP/TRA groups were 1.13 × 10−3mm2/s (95% CI 0.912 × 10–3–1.32 × 10−3mm2/s) and 1.38 × 10−3mm2/s (95% CI 1.33 × 10–3–1.45 × 10−3mm2/s, respectively. Mean FA values of TP/TRA was 0.19 (95% CI 0.189–0.194) and 0.14 (95% CI 0.137–0.143) respectively. A significant mean difference between ADC and FA values in TP versus TRA was observed (p = 0.005). Conclusions: Quantitative ADC and FA values could be useful for distinguishing TP from TRA on a meta-level. Further studies using serial imaging of individual patients are warranted to determine the role of diffusion imaging in glioma patients. [ABSTRACT FROM AUTHOR]

Aims/hypothesis: We assessed the association between congenital malformations and maternal hyperglycemia in pregnant women with pregestational (type 1 or type 2) diabetes and investigated if the rate of congenital malformations was similar in women with near-normal glycemic control compared to the background population. We also assessed the association between congenital malformations and maternal hyperglycemia in pregnant women with pregestational diabetes with special focus on women with near-normal HbA1c in early pregnancy.Materials and Methods: This is a literature review based on an electronic literature search of the databases PubMed, Cochrane, Embase and Web of Science conducted in July 2017 using the search terms diabetes, pregnancy, HbA1c or glycemic control and congenital anomaly or congenital anomaly. We included original papers in English published after 1997 with data on congenital malformations and HbA1c in at least 250 women with pregestational diabetes.Results: Nine papers with in total 6225 women with type 1 diabetes and 2334 women with type 2 diabetes were included. The prevalence of congenital malformations was 6.4% in women with type 1 diabetes and 4.3% in women with type 2 diabetes and for the combined group of women with pregestational diabetes, the relative risk compared to the background population was 3.2. In women with HbA1c < 53 mmol/mol (7.0%) in early pregnancy or HbA1c 53-64 mmol/mol (7.0-8.0%) the prevalence of congenital malformations was 4.3 and 3.7%, respectively, with a relative risk of 2.2 and 1.9, respectively.Conclusions: In pregnant women with pregestational diabetes the prevalence of congenital abnormalities was threefold higher in women with pregestational diabetes compared to the background population. However, HbA1c below 53 mmol/mol (7.0%) in early pregnancy was also associated with a two times increased risk of congenital malformations compared to the background population. [ABSTRACT FROM AUTHOR]

Wild animals are increasingly exposed to human‐induced threats in the ocean realm. Cetacean species, as predators and biomonitoring models, are subjected to a variety of stressors that may result in poor health, injuries, and persistent marks. These malformations can easily be documented by photography or video and can be used to infer about the animals' health, especially if combined with long‐term photographic identification. However, the value of such information for monitoring is vastly increased if a standardised language is used. We provide a broad definition of deformity, as a general concept for conditions or abnormal features in cetacean species, and categorise externally detected deformities in free‐ranging individuals.We define six categories and 58 sub‐categories of deformities in cetaceans: anatomical malformations (11 sub‐categories), skin lesions (29), anomalous pigmentation (4), injuries due to physical impacts (14), emaciation, and epibionts.Categorisation was based on peer‐reviewed literature published between 2000 and 2021 (n = 253 studies), comprising 80 of the 101 extant species, documented in studies conducted across 50 countries; reviewed literature included papers from 86 scientific journals, with three journals contributing 100 out of the 253 documents.Overall, and for both Odontoceti and Mysticeti, physical impact was the most reported category; injuries due to physical impacts were documented in 74% of the 253 studies we reviewed. This may be related to the common exposure of cetaceans to intense human marine traffic and fishing activities.Especially with the growing use of open science, a consistent and common language is fundamental for data comparison and to support cetacean research, management and conservation efficiently. We suggest that researchers adopt these definitions and categories when describing abnormalities observed in free‐living cetaceans. [ABSTRACT FROM AUTHOR]

Content-based recommendation technology is widely used in the field of e-commerce and education because of its intuitive and easy to explain advantages. However, due to the congenital defect of insufficient semantic analysis of TF-IDF vector space model, the traditional content-based recommendation technology has the problem of insufficient semantic analysis in item modeling, fails to consider the role of semantic information in knowledge expression and similarity calculation, and is not accurate enough in calculating item content similarity. The items with semantic relevance in content can not be well mined. The research goal of this paper is to improve the semantic analysis ability of the traditional content-based recommendation algorithm by integrating semantic information with TF-IDF vector space model for item modeling and similarity calculation and proposed an improved content recommendation algorithm integrating semantic information. In order to prove the effectiveness of the proposed method, several groups of experiments are carried out. The experiments results showed that the overall performance of the proposed algorithm in this paper is the best and relatively stable. This verified the validity of our method. [ABSTRACT FROM AUTHOR]

Detecting skeletal or bone-related deformities in model and aquaculture fish is vital for numerous biomedical studies. In biomedical research, model fish with bone-related disorders are potential indicators of various chemically induced toxins in their environment or poor dietary conditions. In aquaculture, skeletal deformities are affecting fish health, and economic losses are incurred by fish farmers. This survey paper focuses on showcasing the cutting-edge image analysis tools and techniques based on artificial intelligence that are currently applied in the analysis of bone-related deformities in aquaculture and model fish. These methods and tools play a significant role in improving research by automating various aspects of the analysis. This paper also sheds light on some of the hurdles faced when dealing with high-content bioimages and explores potential solutions to overcome these challenges. [ABSTRACT FROM AUTHOR]

The article focuses on multiple topics including list of the board members of the periodical like Mike Tipton, information and guidance for the authors such as research papers published in the periodical, and contents available in the issue like skeletal muscle abnormalities by Shintaro Kinugawa.

Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit protein complexes essential for maintaining cellular protein homeostasis. The clinical phenotype of these diseases manifests as a syndromic association involving impaired neural development and multisystem abnormalities, notably craniofacial anomalies and malformations of the cardiac outflow tract (OFT). These observations suggest that proteasome loss-offunction variants primarily affect specific embryonic cell types which serve as origins for both craniofacial structures and the conotruncal portion of the heart. In this hypothesis article, we propose that neural crest cells (NCCs), a highly multipotent cell population, which generates craniofacial skeleton, mesenchyme as well as the OFT of the heart, in addition to many other derivatives, would exhibit a distinctive vulnerability to protein homeostasis perturbations. Herein, we introduce the diverse cellular compensatory pathways activated in response to protein homeostasis disruption and explore their potential implications for NCC physiology. Altogether, the paper advocates for investigating proteasome biology within NCCs and their early cranial and cardiac derivatives, offering a rationale for future exploration and laying the initial groundwork for therapeutic considerations. [ABSTRACT FROM AUTHOR]

Video abnormality detection has become an essential component of surveillance video, identifying frames in the video sequences that contain events that do not conform to the expected behavior. However, their application is limited due to the presence of major challenges during training such as mode collapse, non-convergence, and instability. This paper proposes a novel two-stream spatial and temporal architecture called Deep Stacked LSTM (DSLSTM) for abnormality detection that comprises a spatial and temporal stream to extract the spatial and temporal features. MSE is computed separately for each extracted feature of the stream and fused to form the joint representation of appearance and motion. Afterwards, PSNR followed by anomaly score is measured from the joint representation. Only those frames whose anomaly score value is greater than the threshold will be considered abnormal frames. The experimental results evaluated and compared in four benchmark datasets (UCSD Ped1, Ped2, CUHK Avenue, and ShanghaiTech) depict the high performance of DSLSTM in contrast to the recent popular state-of-the-art methods. Besides, a report on three ablation experiments is also provided, and the impacts on the performance of DSLSTM are compared. We also further compared the performance of our deep DSLSTM with our own shallow SSLSTM model. [ABSTRACT FROM AUTHOR]

While morphological abnormalities have been widely reported in batomorphs, ontogenetic deformities of the posterior pectoral fin are rare. In this paper, we present two individuals of the bluespotted ribbontail ray, Taeniura lymma (Forsskål, 1775), with symmetrically deformed posterior pectoral fins. Both individuals were observed through aerial imagery on a coastal sandflat in the central Red Sea (22.30° N, 39.09° E). The similarity of this symmetrical deformity in both individuals indicates it likely has a genetic base. However, lacking access to the specimens, the ultimate cause of the abnormality remains uncertain. The incomplete disk closure did not seem to affect survival, as both individuals had reached a disk width of 22 cm, well above the typical birth size of the species. Our observations constitute both the first report of a morphological abnormality in T. lymma and the first record of a batomorph with a symmetrically deformed posterior pectoral fin. [ABSTRACT FROM AUTHOR]

Neonatal Respiratory Distress Syndrome (NRDS) in infants of diabetic mothers (IDMs) is significantly influenced by maternal hyperglycemia and hyperinsulinemia, which impair surfactant production necessary for lung function. It is known that NRDS occurs in preterm infants, but research is limited on whether this occurs in near-term to full-term IDMS, which is what we discuss further in this paper. Studies indicate that maternal diabetes, both type 1 and type 2, increases the risk of NRDS, with hyperinsulinemia in the fetus inhibiting surfactant synthesis and contributing to respiratory complications. Furthermore, while insulin therapy manages maternal glucose levels, it can also be a risk factor for NRDS. Effective prenatal care, proper glycemic control, and further research into maternal HbA1C levels and insulin's role in surfactant production are essential for reducing NRDS incidence. Improved diagnostic criteria for gestational diabetes and enhanced management strategies can potentially prevent NRDS, benefiting neonatal outcomes globally. [ABSTRACT FROM AUTHOR]

Neural tube defects (NTDs) are common, severe, and complicated congenital malformations that are the result of the interaction and interplay of genetic, nutritional, and environmental factors. Maternal periconceptional folic acid (FA) supplementation is a significantly effective strategy for primary prevention of a proportion of NTDs. However, there still exists a portion of NTD cases that are intrinsically resistant to FA therapies, which are widely referred to as “FA-non-responsive NTDs” or “FA-resistant NTDs” . These diseases have a complex etiology, involving genetic, nutritional, environmental and maternal factors. This review integrates the genetic, nutritional, environmental and maternal risk factors associated with FA non-responsive NTDs and reveals the progress of research on their pathogenic mechanisms. Among them, the genetic factors cover three aspects: mouse mutants and strains, FA one-carbon metabolism genes, and key apoptosis genes, which provide possible genetic testing loci for prenatal diagnosis of these children. Nutritional factors concentrate on the roles of inositol and methionine, delineating their possible mechanisms of action and suggesting new directions for early nutritional interventions in NTDs management. In addition, this paper explores the possible mechanisms by which vitamin B12, a cofactor in the FA one-carbon metabolism, in FA-non-responsive NTDs development. We posit that a combination of FA and other vitamins may enhance treatment strategies for these malformations. At last, this paper also reviews the influence of environmental and maternal factors on FA non-responsive NTDs, aiming to provide health recommendations for early pregnancy for at-risk populations. In summary, this article reviews and evaluates research advancement concerning FA non-responsive NTD risk factors and pathogenesis, providing novel insights into the current prevention and treatment of this disease and related birth defects. [ABSTRACT FROM AUTHOR]

The Canadian Congenital Anomalies Surveillance Network was established in 2002 to address gaps in the national surveillance of congenital anomalies (CAs) and support the sustainability of high-quality, population-based, CA surveillance systems within provinces and territories. This paper highlights the methodologies of each local CA surveillance system, noting similarities and variabilities between each system, to contribute to enhanced national CA surveillance efforts. [ABSTRACT FROM AUTHOR]

The author comments on the study by Cornips and colleagues entitled "The Clinical Spectrum of Blake's Pouch Cyst: Report of Six Illustrative Cases." The author emphasizes the correct use of the term brain malformation since, he believed that the term could create confusions. He also mentions medical-related term and the Dandy-Walker Malformation (DWM).

Ground-based synthetic aperture radar (GB-SAR), as a noncontact measurement technology, is widely used in the dynamic deflection monitoring of various bridges. Energy analysis is a popularized time--frequency domain technique for bridge abnormality detection. To improve the accuracy of bridge abnormality detection using GB-SAR, in this paper, we propose an extreme-point symmetric mode decomposition (ESMD)-based energy integral model based on the total energy function to identify the position and trend of bridge changes. First, ESMD with the wavelet synchro-squeezing transform (ESMD-WSST) high-frequency denoising processes are applied to reduce the effect of noise contained in the monitored dynamic deflection. Second, ESMD decomposition and instantaneous frequency calculation are performed on the denoised signal to obtain the integration time adaptively. Third, the instantaneous total energy of all reflection points on the lower surface of the bridge is calculated through the kinetic energy formula to improve the accuracy. Finally, instantaneous total energy integration is applied for energy accumulation calculation to accurately detect bridge abnormality without empirical judgment. The performance of the proposed model is verified through an on-site experiment of the Beishatan Bridge and comparing its result with that of the 3D laser model in the same period. The experimental results show that the proposed model can achieve high-precision identification of bridge abnormality positions and trends. [ABSTRACT FROM AUTHOR]

Termination of pregnancies by itself is an extremely sensitive issue and is even characterized as an offence within Sections 312-316 of the Indian Penal Code. However, legally sanctioned exceptions have been created in the Medical Termination of Pregnancy Act, 1971 (hereinafter referred to as the "MTP Act"). Whenever congenital malformations are detected in a foetus, the relaxation of the upper statutory limit set by the MTP Act becomes the subject of intense debate. When the permissible statutory period elapses, writ petitions to judicial forums may become the last refuge of couples who wish to terminate pregnancy. Many experts question the legal legitimacy of such a relaxation since the time limit set by the statute is unambiguously precise with no scope for exceptions save for a few statutory conditions. However, the authors argue that there are certain eventualities in cases like these, which can form a class by itself and which the MTP Act doesn't take into account. The authors shall proffer new medico-legal arguments using broader constitutional values and suggest changes in the MTP Act to keep it in consonance with newer conceptions of 'mental health' and 'reproductive autonomy'. It is stated at the outset that the purpose of this article is to further enrich the medical jurisprudence on pre-natal technologies by using principles of laws discussed in Courtroom decisions. The paper shall provide a critique of the legal insights and Court precedents which have shaped discussions on the legal challenges faced in pregnancy cases where the presence of foetal anomalies forces the parents to make difficult choices regarding the continuation of their pregnancies. It is maintained that the domain of this paper shall be limited to legal principles and decisions pertaining to the Indian jurisdiction. The technical and biological variables behind the causation of genetic disorders shall be beyond the scope of this paper. [ABSTRACT FROM AUTHOR]

Fetuses at low gestational age limit of viability, neonates with life threatening or life limiting congenital anomalies and deteriorating acutely ill newborn babies in intensive care, pose taxing ethical questions on whether to forego or stop treatment and allow them to die naturally. Although there is essentially no ethical difference between end of life decision between neonates and other children and adults, in the former, the fact that we are dealing with a new life, may pose greater problems to staff and parents. Good communication skills and involvement of all the team and the parents should start from the beginning to see which treatment can be foregone or stopped in the best interests of the child. This article deals with the importance of clinical ethics to avoid legal and moral showdowns and discusses accepted moral practice in this difficult area. [ABSTRACT FROM AUTHOR]

Although Boorse's and Wakefield's accounts of health are generally regarded as competing ones, they are in fact so only if they are aimed at the same concept. Some remarks made by Boorse and Wakefield, however, leave it unclear whether they are. On one possible interpretation, Boorse's account aims at analysing a theoretical concept of abnormality, which ought to be distinguished from a more clinical or therapeutic concept, whereas Wakefield's account aims at analysing a clinical or therapeutic concept. The debate between Boorse and Wakefield would then either be merely terminological, or would boil down to whether Boorse is correct to assert the existence of a theoretical concept of abnormality which ought to be distinguished from a clinical or therapeutic one. This paper aims to clarify what is at stake between Boorse and Wakefield, by maintaining that their accounts are most plausibly interpreted as both being aimed towards a theoretical concept of abnormality. [ABSTRACT FROM AUTHOR]

Background: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. Methods: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. Result: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). Conclusions: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes. [ABSTRACT FROM AUTHOR]

Background: Anthropology is a scientific discipline which applies scientific methods to identify and quantitate inter-individual variations in body structure and function. Anthropometry assesses craniofacial dysmorphology in genetic disorders and helps to detect phenotypic differences in diseases with common underlying cause. This study is part of a comprehensive cross-sectional study of craniofacial and oral findings in Egyptian school children. This paper focused on establishing the norms of Egyptian male school children and its utility in determining the differences in facial measurements of a child with Prader–Willi syndrome (PWS). Thirty craniofacial measurements were taken from 55 healthy Egyptian school children aged 12–14 years with mean age 13 ± 0.64 and a PWS child aged 13.6 years. The PWS measurements were compared with healthy children of the same age using computed Z-score. Results: Morphological face height of the PWS child was within the normal range. However, upper face height and nose height were significantly lower with Z-scores of - 3.18 and - 2.7, respectively; right and left mandibular body length and upper lip height were significantly higher than the mean of healthy children with corresponding Z-scores of 2.95, 2.48, and 2.33. Conclusions: By establishing the norms of Egyptian male school children and utilizing these data, we can identify the difference in facial measurements among children with abnormalities like PWS. This information can be used during periodic checkups as a simple, non-invasive, and economical method for the detection of these abnormalities.

Background: Reversible cerebral vasoconstriction syndrome (RCVS) is a syndrome of recurrent thunderclap headaches and reversible vasoconstriction of the cerebral arteries on neuroimaging within 3 months of onset. Initial non-contrast computed tomography (CT) can reveal abnormalities such as ischemic stroke, intracerebral hemorrhage, and subarachnoid hemorrhage (SAH) can be present in patients with RCVS and may delay diagnosis. Aims: We conducted a systematic review and meta-analysis in accordance with the PRISMA guidelines. We aimed to estimate the prevalence of imaging abnormalities on initial non-contrast CT head in adult patients with RCVS. Data sources & eligibility criteria: We searched electronic databases including MEDLINE, EMBASE, and the Cochrane Register of Clinical Trials from inception to August 2, 2022. Eligible studies included articles reporting the prevalence of non-contrast CT abnormalities on initial neuroimaging in patients with RCVS, aged 18 and older. Case series, observational studies and clinical trials were included. Data was extracted directly from included papers using a standardized data charting form. Results: The search yielded 722 titles with duplicates removed. Twenty studies that included 379 patients with RCVS met inclusion criteria. We classified non-contrast CT abnormalities as either ischemic stroke, ICH, or SAH. We pooled prevalence data using a random effects model with the inverse-variance weighted method. The most common imaging finding was SAH with a pooled prevalence of 24% (95% CI:17%-33%), followed by ICH at 14% (95% CI:8%-22%), and ischemic stroke at 10% (95% CI:7%-14%). The pooled prevalence of any of these imaging abnormalities on initial non-contrast CT was 31% (95% CI:23%-40%). Risk of bias was moderate to very-high-risk for case-series and low-risk for observational studies. Conclusion: Our review demonstrates that one-third of patients with RCVS will have an abnormality on initial non-contrast CT head, including either an ischemic stroke, ICH, or SAH. These findings highlight the diagnostic challenges of RCVS imaging and contribute to our understanding of this disease. [ABSTRACT FROM AUTHOR]

Simple Summary: The cornerstone of successful treatment of hematologic diseases, including multiple myeloma (MM), is early diagnosis and establishing a prognosis for the patient. Therefore, it is necessary to identify sensitive and specific markers for this disease. Non-coding RNAs including miRNAs are increasingly being recognized as potential diagnostic, predictive, and prognostic markers. These molecules are non-coding, single-stranded RNAs that regulate the expression of many target genes involved in key biological processes, such as cell proliferation, differentiation, and apoptosis. This paper aims to identify the role of non-coding RNAs including miRNAs as potential markers for diagnosis and prognosis in patients with MM. Multiple myeloma (MM) is the second most common hematologic malignancy in the world and accounts for 15% of primary hemocytopathies, with an ever-increasing number of new cases. It is asymptomatic in 30% of instances; hence, the determination of highly sensitive and specific markers is necessary to make a proper diagnosis. In the last 20 years, miRNAs, involved in regulating the expression of genes responsible for cell proliferation and differentiation, including tumor cells, have been identified as potential diagnostic and prognostic markers. The main aim of the following review was to outline the role of miRNAs in the diagnosis and prognosis of MM, considering their role in the pathogenesis of the disease and identifying their target genes and pathways. For this purpose, publications dating from 2013–2023 have been reviewed. Based on the available data, it is concluded that non-coding RNAs including miRNAs could be potential markers in MM. Furthermore, they may serve as therapeutic targets for certain drugs. [ABSTRACT FROM AUTHOR]

Facial diseases lead to noticeable changes on the human face, and some of them extend beyond internal effects or organbased disorders. Indeed, certain types of facial diseases result in visually noticeable abnormalities on the human face. These alterations in facial patterns can serve as potential indicators for corresponding diseases, particularly in the fields of endocrinology and metabolism, Muscles-Nervous disorders, Chromosomes, and Genetic disorders, among others. Technologies used in Face Recognition (FR) have been developed over the past few decades; however, only a limited amount of research has been applied in recent years to FR-based disease detection for clinical purposes. FR applications relying on Artificial Neural Network (ANN) techniques have recorded higher accuracy rates in diagnosing facial diseases. This field of recognition holds promising potential for optimizing facial diagnosis approaches and supporting medical staff in evaluating detections. In practice, only a few research ideas have been translated into medical products, emphasizing the need to identify and integrate future applications. As a primary focus, this paper centers on the key applications and technologies for detecting various types of facial diseases, along with a discussion of prospects. [ABSTRACT FROM AUTHOR]

Cytomegalovirus (CMV) can cause serious complications in immunocompromised individuals and fetuses with congenital infections. These can include neurodevelopmental impairments and congenital abnormalities in newborns. This paper emphasizes the importance of concurrently evaluating ultrasonography findings and laboratory parameters in diagnosing congenital CMV infection. To examine the prenatal characteristics of CMV DNA-positive patients, we assessed serum and amniotic fluid from 141 pregnant women aged 19–45 years, each with fetal anomalies. ELISA and PCR tests, conducted in response to these amniocentesis findings, were performed at an average gestational age of 25 weeks. Serological tests revealed that all 141 women were CMV IgG-positive, and 2 (1.41%) had low-avidity CMV IgG, suggesting a recent infection. CMV DNA was detected in 17 (12.05%) amniotic fluid samples using quantitative PCR. Of these, 82% exhibited central nervous system abnormalities. Given that most infections in pregnant women are undetectable and indicators non-specific, diagnosing primary CMV in pregnant women using clinical findings alone is challenging. We contend that serological tests should not be the sole means of diagnosing congenital CMV infection during pregnancy. [ABSTRACT FROM AUTHOR]

Background: The pathogenesis of orofacial cleft (OFC) is multifactorial, involving both genetic and non-genetic factors, the latter of which play a key role in the development of these anomalies. This paper addresses the incidence of OFC in Indonesia, with a focus on identifying and examining the distribution of contributory factors, including parental medical history, pregnancy history, and environmental influences. Methods: The study was conducted through the collection of primary data. An interdisciplinary research team from Indonesia administered a standardized questionnaire to parents who had children with OFC and who had provided informed consent. The case group comprised 133 children born with cleft lip and/or palate, and the control was 133 noncleft children born full-term. The risk factors associated with OFC anomalies were analyzed using the chi-square test and logistic regression. All statistical analyses were performed using SPSS version 25. A p-value of 0.05 or less was considered to indicate statistical significance. Results: The study comprised 138 children, of whom 82 were boys (59.4%) and 56 were girls (40.6%). Among them, 45 patients (32.6%) presented with both cleft lip and cleft palate, 25 individuals (18.1%) had a cleft palate only, and 28 patients (20.3%) had a cleft lip only. OFC was found to be significantly associated with a maternal family history of congenital birth defects (p< 0.05), complications during the first trimester (p< 0.05), consumption of local fish (p< 0.05), caffeine intake (p< 0.05), prolonged medication use (p< 0.05), immunization history (p< 0.05), passive smoking (p< 0.05), and X-ray exposure during pregnancy (p< 0.05). Conclusion: The findings indicate close relationships between the incidence of OFC and maternal medical history, prenatal factors, and environmental influences. [ABSTRACT FROM AUTHOR]

Polyorchidism, or supernumerary testis, is a rare congenital abnormality of the genitourinary system. In this paper, we present the case of triorchidism in a seven-year-old asymptomatic child with a suspect left scrotal mass detected on routine physical examination. Imaging studies revealed a third testicle in the left hemiscrotum, with comparable dimensions, signal intensity on MRI, and Doppler flow on ultrasound with the ipsilateral testis. We also discuss the clinical presentations, classifications, and current diagnostic and therapeutic strategies of this condition. [ABSTRACT FROM AUTHOR]

Background: It is thought that infrabony defect morphology affects the outcome of periodontal regenerative surgery. However, this has not been systematically investigated. Aims: To investigate how well defect morphology is described in papers reporting regenerative therapy of periodontal infrabony defects and to investigate its effect on clinical and radiographic outcomes. Materials and Methods: A search was conducted in 3 electronic databases for publications reporting clinical and radiographic outcomes of periodontal intra‐bony defects after regenerative therapy, divided by defect morphology. Results: The initial search resulted in 4487 papers, reduced to 143 after first and second screening. Fifteen of these publications were suitable for a fixed‐effects meta‐analysis. Initial defect depth was found to influence radiographic bone gain 12 months post‐surgery, while narrower angles and increased number of walls influenced both radiographic bone gain and clinical attachment level (CAL) gain at 12 months. These associations seemed to occur irrespective of biomaterials used. Risk of bias ranged from low to high. Conclusion: Deeper defects with narrower angles and increased number of walls exhibit improved CAL and radiographic bone gain at 12 months post‐regenerative surgery. More data are needed about other aspects of defect morphology such as extension to buccal/lingual surfaces. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to present rare sinus syndromes known as silent sinus syndrome (SSS) and frontal sinus syndrome with excessive pneumatization and bone defects in the wall (pneumocele). The available literature describing pneumocele cases was reviewed. Methodology: PubMed and Science Direct databases were searched by two independent reviewers. The primary outcome was finding descriptions of the sinus pneumocele. In the end, papers on frontal sinus pneumocele that was not the result of trauma, congenital defects or comorbidities were selected. Moreover, the authors presented their own cases of SSS and pneumocele. Results: Twelve case reports of frontal sinus pneumocele were found, one own case was presented. In addition, 8 subjects with SSS, diagnosed and treated in the period from September 2017 to May 2022, were described. Conclusions: With the increasing number of patients suffering from sinus diseases and the growing number of endoscopic surgeries, the knowledge of rare sinus syndromes will increase the safety of the procedures performed. [ABSTRACT FROM AUTHOR]

The article discusses the orientation failures in medicine and psychiatry in Great Britain. Orientation failures refers to dislocations between the subject's cognition of time, space or person, and the relevant reference systems. The described orientation failures are determined by whether the subject chooses to orientate himself in relation to public or private reference systems.