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Children born with congenital upper limb absence exhibit consistent and distinguishable levels of biological control over their affected muscles, assessed through surface electromyography (sEMG). This represents a significant advancement in determining how these children might utilize sEMG-controlled dexterous prostheses. Despite this potential, the efficacy of employing conventional sEMG classification techniques for children born with upper limb absence is uncertain, as these techniques have been optimized for adults with acquired amputations. Tuning sEMG classification algorithms for this population is crucial for facilitating the successful translation of dexterous prostheses. To support this effort, we collected sEMG data from a cohort of N = 9 children with unilateral congenital below-elbow deficiency as they attempted 11 hand movements, including rest. Five classification algorithms were used to decode motor intent, tuned with features from the time, frequency, and time-frequency domains. We derived the congenital feature set (CFS) from the participant-specific tuned feature sets, which exhibited generalizability across our cohort. The CFS offline classification accuracy across participants was 73.8% ± 13.8% for the 11 hand movements and increased to 96.5% ± 6.6% when focusing on a reduced set of five movements. These results highlight the potential efficacy of individuals born with upper limb absence to control dexterous prostheses through sEMG interfaces.

BackgroundIndividuals with Down syndrome (DS) are at high risk of early-onset Alzheimer's disease (AD); yet, some 20 percent do not develop any signs of dementia until after 65 years or in their lifetime. Mosaicism could contribute to this phenotypic variation, where some disomic cells could lead to lower levels of gene products from chromosome 21.MethodsWe examined longitudinal neuropsychological and biomarker data from two large studies of DS: the Alzheimer Biomarker Consortium-Down syndrome study (ABC-DS) (n = 357); and a legacy study (n = 468). We assessed mosaicism using karyotyping or GWAS data. Participants had data on plasma AD biomarkers (Aβ40, Aβ42, tau, and NfL) and longitudinal cognitive measures. A subset had cerebrospinal fluid biomarkers (Aβ40, Aβ42, tau, ptau181, and NfL) and amyloid and tau PET data.FindingsFor both cohorts, the prevalence of mosaicism was

INTRODUCTION: Reducing cardiopulmonary bypass (CPB) induced inflammatory injury is a potentially important strategy for children undergoing multiple operations for single ventricle palliation. We sought to characterize the soluble receptor for advanced glycation end products (sRAGE), a protein involved in acute lung injury and inflammation, in pediatric patients with congenital heart disease and hypothesized that patients undergoing single ventricle palliation would have higher levels of sRAGE following bypass than those with biventricular physiologies. METHODS: This was a prospective, observational study of children undergoing CPB. Plasma samples were obtained before and after bypass. sRAGE levels were measured and compared between those with biventricular and single ventricle heart disease using descriptive statistics and multivariate analysis for risk factors for lung injury. RESULTS: sRAGE levels were measured in 40 patients: 19 with biventricular and 21 with single ventricle heart disease. Children undergoing single ventricle palliation had a higher factor and percent increase in sRAGE levels when compared to patients with biventricular circulations (4.6 vs. 2.4, p = 0.002) and (364% vs. 181%, p = 0.014). The factor increase in sRAGE inversely correlated with the patients preoperative oxygen saturation (Pearson correlation (r) = -0.43, p = 0.005) and was positively associated with red blood cell transfusion (coefficient = 0.011; 95% CI: 0.004, 0.017; p = 0.001). CONCLUSIONS: Children with single ventricle physiology have greater increase in sRAGE following CPB as compared to children undergoing biventricular repair. Larger studies delineating the role of sRAGE in children undergoing single ventricle palliation may be beneficial in understanding how to prevent complications in this high-risk population.

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a rare genetic disorder caused by deleterious genetic variation in the prolyl endopeptidase-like (PREPL) gene. Previous reports have described patients with deletions and nonsense variants in PREPL, but nothing is known about the effect of missense variants in the pathology of CMS22. In this study, we have functionally characterized missense variants in PREPL from 3 patients with CMS22, all with hallmark phenotypes. Biochemical evaluation revealed that these missense variants do not impair hydrolase activity, thereby challenging the conventional diagnostic criteria and disease mechanism. Structural analysis showed that the variants affect regions most likely involved in intraprotein or protein-protein interactions. Indeed, binding to a selected group of known interactors was differentially reduced for the 3 variants. The importance of nonhydrolytic functions of PREPL was investigated in catalytically inactive PREPL p.Ser559Ala cell lines, which showed that hydrolytic activity of PREPL is needed for normal mitochondrial function but not for regulating AP1-mediated transport in the transgolgi network. In conclusion, these studies showed that CMS22 can be caused not only by deletion and truncation of PREPL but also by missense variants that do not necessarily result in a loss of hydrolytic activity of PREPL.

BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.

BACKGROUND AND OBJECTIVE: Congenital heart defects are known to be associated with increased odds of severe COVID-19. Congenital anomalies affecting other body systems may also be associated with poor outcomes. This study is an exhaustive assessment of congenital anomalies and odds of severe COVID-19 in pediatric patients. METHODS: Data were retrieved from the COVID-19 dataset of Cerner® Real-World Data for encounters from March 2020 to February 2022. Prior to matching, the data consisted of 664,523 patients less than 18 years old and 927,805 corresponding encounters with COVID-19 from 117 health systems across the United States. One-to-one propensity score matching was performed, and a cumulative link mixed-effects model with random intercepts for health system and patients was built to assess corresponding associations. RESULTS: All congenital anomalies were associated with worse COVID-19 outcomes, with the strongest association observed for cardiovascular anomalies (odds ratio [OR], 3.84; 95% CI, 3.63-4.06) and the weakest association observed for anomalies affecting the eye/ear/face/neck (OR, 1.16; 95% CI, 1.03-1.31). CONCLUSIONS AND RELEVANCE: Congenital anomalies are associated with greater odds of experiencing severe symptoms of COVID-19. In addition to congenital heart defects, all other birth defects may increase the odds for more severe COVID-19. IMPACT: All congenital anomalies are associated with increased odds of severe COVID-19. This study is the largest and among the first to investigate birth defects across all body systems. The multicenter large data and analysis demonstrate the increased odds of severe COVID19 in pediatric patients with congenital anomalies affecting any body system. These data demonstrate that all children with birth defects are at increased odds of more severe COVID-19, not only those with heart defects. This should be taken into consideration when optimizing prevention and intervention resources within a hospital.

His-bundle pacing has demonstrated feasibility in numerous adult studies to reverse and prevent pacing-induced cardiomyopathy, however, is met with higher capture thresholds with deployment sheaths designed for adults with his-bundles in the typical location. To describe 24 pediatric and adult congenital patients post-physiologic pacing. Patients at the University of Minnesota Masonic Childrens Hospital with congenital complete heart block or congenital heart disease and atrioventricular block presented for pacemaker placement between November 2019 and January 2021. Twenty-four patients had attempted his-bundle placement using either Medtronics C315 or C308 sheaths and 3830 leads except for 3 patients who had Boston Scientifics His system with the Shape 3 sheath and 7842 leads. Twenty-four total patients underwent physiologic pacing (23 his-bundle, 13 female, 11 male) with median age of 14 years (range 8-39 years) with median weight of 51 kg (range 21.2-81 kg) with five right-sided implants performed. Twelve patients had congenital heart disease including atrioventricular canal defects, tetralogy of Fallot, and ventricular septal defect repairs (nine patients with ventricular septal defect repairs). Twelve patients had selective His-bundle pacing (six with congenital heart disease). Median threshold to capture was 0.5 V at 0.4 ms (range 0.4 to 1.1 V at 0.4 ms), impedance 570 ohms (range 456-1140 ohms), and sensing median of 9.7 mV (range 1.5-13.8 mV if present). The median follow-up time was 610 days (range 240-760 days). No complications occurred peri-procedurally or during follow-up. His-bundle pacing is feasible in pediatric and congenital heart disease patients.

INTRODUCTION: Brace treatment is common to address radiological dysplasia in infants with developmental dysplasia of the hip (DDH); however, it is unclear whether bracing provides significant benefit above careful observation by ultrasound. If observation alone is non-inferior to bracing for radiological dysplasia, unnecessary treatment may be avoided. Therefore, the purpose of this study is to determine whether observation is non-inferior to bracing for infants with radiological dysplasia. METHODS AND ANALYSIS: This will be a multicentre, global, randomised, non-inferiority trial performed under the auspices of a global prospective registry for infants and children diagnosed with DDH. Patients will be included if they present with radiological dysplasia (centred hip, alpha angle 43-60°, percent femoral head coverage greater than 35% measured on ultrasound) of a clinically stable hip under 3 months old. Patients will be excluded if they present with clinical hip instability, have received prior treatment or have known/suspected neuromuscular, collagen, chromosomal or lower-extremity congenital abnormalities or syndromic-associated hip abnormalities. Patients will be enrolled and randomised to undergo observation alone or brace treatment with a Pavlik harness for a minimum of 6 weeks. Follow-up visits will occur at 6 weeks, 1 year and 2 years post-enrolment. The primary outcome will be the norm-referenced acetabular index measured on the 2-year radiograph with a 3° non-inferiority margin. A total of 514 patients will be included.The study is anticipated to start in April 2024 and end in September 2028.The primary outcome will be compared between arms with a mixed-effects model with a random intercept for study centre, and a single covariate for the treatment group. If the lower bound of the 95% CI lies within 3° of the mean, we will treat this as evidence for non-inferiority. ETHICS AND DISSEMINATION: Ethics approval has been obtained from the lead sites ethics board (University of British Columbia, Childrens and Womens Research Ethics Board). Ethics approval will be obtained from the local ethics committees or institutional review boards at each institution prior to patient enrolment. It is intended that the results of this study shall be published in peer-reviewed journals and presented at suitable conferences. TRIAL REGISTRATION NUMBER: NCT05869851.

BackgroundOxygen saturation (Spo2) screening has not led to earlier detection of critical congenital heart disease (CCHD). Adding pulse oximetry features (ie, perfusion data and radiofemoral pulse delay) may improve CCHD detection, especially coarctation of the aorta (CoA). We developed and tested a machine learning (ML) pulse oximetry algorithm to enhance CCHD detection.Methods and resultsSix sites prospectively enrolled newborns with and without CCHD and recorded simultaneous pre- and postductal pulse oximetry. We focused on models at 1 versus 2 time points and with/without pulse delay for our ML algorithms. The sensitivity, specificity, and area under the receiver operating characteristic curve were compared between the Spo2-alone and ML algorithms. A total of 523 newborns were enrolled (no CHD, 317; CHD, 74; CCHD, 132, of whom 21 had isolated CoA). When applying the Spo2-alone algorithm to all patients, 26.2% of CCHD would be missed. We narrowed the sample to patients with both 2 time point measurements and pulse-delay data (no CHD, 65; CCHD, 14) to compare ML performance. Among these patients, sensitivity for CCHD detection increased with both the addition of pulse delay and a second time point. All ML models had 100% specificity. With a 2-time-points+pulse-delay model, CCHD sensitivity increased to 92.86% (P=0.25) compared with Spo2 alone (71.43%), and CoA increased to 66.67% (P=0.5) from 0. The area under the receiver operating characteristic curve for CCHD and CoA detection significantly improved (0.96 versus 0.83 for CCHD, 0.83 versus 0.48 for CoA; both P=0.03) using the 2-time-points+pulse-delay model compared with Spo2 alone.ConclusionsML pulse oximetry that combines oxygenation, perfusion data, and pulse delay at 2 time points may improve detection of CCHD and CoA within 48 hours after birth.RegistrationURL: https://www.clinicaltrials.gov/study/NCT04056104?term=NCT04056104&rank=1; Unique identifier: NCT04056104.

BackgroundGlanzmann's thrombasthenia (GT) is a congenital platelet disorder affecting approximately 1:1 000 000 people globally and characterized by impaired platelet aggregation and clot retraction. Autosomal recessive, loss-of-function, variants in ITGA2B or ITGB3 of the αIIbβ3 receptor cause the disease in humans. A cat affected by Glanzmann's and macrothrombocytopenia was presented to the UC Davis VMTH.Hypothesis/objectivesSevere thrombopathia in this cat has an underlying genetic etiology.AnimalsA single affected patient, 2 age-matched clinically healthy controls, and a geriatric population (n = 20) of normal cats.MethodsPhysical examination and clinical pathology tests were performed on the patient. Flow cytometry and platelet aggregometry analyses for patient phenotyping were performed. Patient and validation cohort gDNA samples were extracted for Sanger sequencing of a previously identified ITGA2B (c.1986delC) variant. Reverse transcriptase PCR was performed on patient and healthy control PRP samples to verify ITGA2B variant consequence.ResultsA novel c.1986_1987insCC autosomal recessive variant in ITGA2B was identified. This variant was absent in a population of 194 unrelated cats spanning 44 different breeds. Complete loss of ITGA2B transcript and protein expression was verified by RT-PCR and flow cytometry, explaining the underlying etiology of GT, and likely macrothrombocytopenia, in this cat.Conclusions and clinical importanceThis study emphasizes the role of precision medicine in cardiovascular disease of cats and identified yet another variant that may be of utility for screening in the feline population. This study provides a small-volume, standardized, successful protocol for adequate platelet RNA isolation and subsequent molecular assessment of gene expression in cats.

ObjectiveOur objective was to gauge adherence to nationally endorsed protocols in implementation of pulse oximetry (POx) screening for critical congenital heart disease (CCHD) in infants after mandate by all states and to assess associated characteristics.Study designBetween March and October 2019, an online questionnaire was administered to nurse supervisors who oversee personnel conducting POx screening. The questionnaire used eight questions regarding performance and interpretation of screening protocols to measure policy consistency, which is adherence to nationally endorsed protocols for POx screening developed by professional medical societies. Multilevel linear regression models evaluated associations between policy consistency and characteristics of hospitals and individuals, state of hospital location, early versus late mandate adopters, and state reporting requirements.ResultsResponses from 189 nurse supervisors spanning 38 states were analyzed. Only 17% received maximum points indicating full policy consistency, and 24% selected all four options for potential hypoxia that require a repeat screen. Notably, 33% did not recognize ≤90% SpO2 as an immediate failed screen and 31% responded that an infant with SpO2 of 89% in one extremity will be rescreened by nurses in an hour rather than receiving an immediate physician referral. Lower policy consistency was associated with lack of state reporting mandates (beta = -1.23 p = 0.01) and early adoption by states (beta = -1.01, p

IntroductionPeople with Down syndrome (DS) have a 75% to 90% lifetime risk of Alzheimer's disease (AD). AD pathology begins a decade or more prior to onset of clinical AD dementia in people with DS. It is not clear if plasma biomarkers of AD pathology are correlated with early cognitive and functional impairments in DS, and if these biomarkers could be used to track the early stages of AD in DS or to inform inclusion criteria for clinical AD treatment trials.MethodsThis large cross-sectional cohort study investigated the associations between plasma biomarkers of amyloid beta (Aβ)42/40, total tau, and neurofilament light chain (NfL) and cognitive (episodic memory, visual-motor integration, and visuospatial abilities) and functional (adaptive behavior) impairments in 260 adults with DS without dementia (aged 25-81 years).ResultsIn general linear models lower plasma Aβ42/40 was related to lower visuospatial ability, higher total tau was related to lower episodic memory, and higher NfL was related to lower visuospatial ability and lower episodic memory.DiscussionPlasma biomarkers may have utility in tracking AD pathology associated with early stages of cognitive decline in adults with DS, although associations were modest.HighlightsPlasma Alzheimer's disease (AD) biomarkers correlate with cognition prior to dementia in Down syndrome.Lower plasma amyloid beta 42/40 was related to lower visuospatial abilities.Higher plasma total tau and neurofilament light chain were associated with lower cognitive performance.Plasma biomarkers show potential for tracking early stages of AD symptomology.

Individuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early-onset Alzheimer's disease (AD)-type dementia by early midlife. Despite ongoing clinical trials to treat late-onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS-related AD (DS-AD), partly due to limited access to well-characterized brain tissue and biomaterials for research. To address this challenge, we created an international consortium of brain banks focused on collecting and disseminating brain tissue from persons with DS throughout their lifespan, named the Down Syndrome Biobank Consortium (DSBC) consisting of 11 biobanking sites located in Europe, India, and the USA. This perspective describes the DSBC harmonized protocols and tissue dissemination goals.

Congenital anterior segment anomalies are disorders that affect the development of the eye and cause severe visual impairment. The molecular basis of congenital anterior segment anomalies is not well known. In this study, genome sequencing was performed on 27 families from diverse ethnicities with congenital anterior segment anomalies and 11 variants were identified, most of which were novel and family specific. These variants included single nucleotide variants CPAMD8:c.4825 C > T, c.534 G > A, CRYBB1:c.683 C > A, NHS:c.1180 C > T, GJA3:c.176 C > T, CRYGC:c.470 G > A, COL2A1:c.2819 G > A, c.1693 C > T, EPHA2:c.2864 A > C, a splice donor variant in COL11A1:c.933 + 1del, and a copy number variant in FBN1. The observed inheritance patterns were predominantly dominant, with a few recessive cases and a single instance of X-linked inheritance. Genome sequencing identified variants in 40.74% of diverse cases, offering valuable insights for enhancing the diagnosis and management of this disorder. [ABSTRACT FROM AUTHOR]

Background: Data on congenital heart diseases in neonates, especially critical congenital heart disease, varies worldwide. Developing countries have higher mortality than developed countries. To study the clinical profile of congenital heart diseases in neonates. Methods: Prospective observational study. Neonates admitted to a tertiary care hospital with congenital heart disease. Clinical details, investigations, and management of neonates admitted to a tertiary care hospital were studied prospectively. Results: Among the study neonates, 60% had acyanotic heart disease, the most common being ASD, while 40% had cyanotic heart disease, the most common being TGA—outborn cases comprised 60% of the total neonates. The most common presenting features were fast breathing and cyanosis; the most common clinical sign was murmur(59%). Among the study neonates, 15 cases had low calcium levels. Definitive surgery was done in 21 neonates, of which 7 succumbed. The staged repair was done in 9 neonates, of which 2 succumbed. Of 12 TGA cases,10 underwent definitive repair, and 7 did well at follow-up. Among the 10 TOF babies, 6 underwent staged repair. Out of the 7 cases of CoA, 6 underwent definitive surgery, and 1 expired. Among Critical CHD, mortality was 23.3%. Conclusion: The most common cyanotic heart disease was ASD, and the most common cyanotic heart disease was TGA. Surgery was done in 30 cases, out of which 9 succumbed, and mortality among surgical cases was 30%. At follow up TGA cases with definitive surgeries were doing well. Mortality was lower compared to other studies in India. Hypocalcemia was observed in 16.6% of the CHD cases, which needs to be studied in the future. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study is to systematically review the literature to evaluate the diagnostic methods, associated defects, treatment approaches, and outcomes of congenital perineal hernia. Methods & results: We searched PubMed and Google Scholar from inception until January 7, 2024, to find relevant articles on congenital perineal hernia. A total of 87 articles were obtained which were screened based on eligibility criteria yielding a total of 12 documented cases that were summarized in a table. Case description: We also present two cases of congenital perineal hernia in two siblings. A 28-day-old full-term infant presented with respiratory distress and pneumonia. Examination revealed a reducible swelling in the buttock. Imaging confirmed congenital diaphragmatic and perineal hernia. Emergency surgical correction of the diaphragmatic hernia was performed, but the infant’s condition worsened, leading to death 9 days after surgery due to sepsis and respiratory arrest. A 2.5-month-old infant presented with protrusion in the buttocks, irritability, and breathing difficulties. Examination revealed a reducible congenital perineal hernia. Imaging revealed herniation of the intestinal loops through a pelvic muscle defect. Although surgery was offered, the parents chose conservative management, and the patient remained asymptomatic at 4 months of age. Conclusions: It is important to consider the possibility of congenital perineal hernia when encountering a reducible swelling in the buttock area. Our findings emphasize the need for individualized care based on case-specific attributes and highlight the complexity of congenital perineal hernias. [ABSTRACT FROM AUTHOR]

Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next‐generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss‐of‐function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A‐related urogenital and/or brain malformation syndrome. [ABSTRACT FROM AUTHOR]

Background: While the number of cardiac surgery programs in sub-Saharan Africa are increasing, it is still insufficient. With only 0.08 pediatric cardiac surgeons per million people, few cardiac centers routinely perform pediatric cardiac surgery. This has led to reliance on humanitarian medical missions or referral abroad for most African nations. This study outlines the outcomes of Rwanda's first sustainable pediatric cardiac surgery program. Methods: A retrospective chart review was performed for all pediatric patients who received cardiac surgery between October 2022 and April 2024. Patient demographics, procedures, operative times, length of stay, complications, and 30-day mortality were synthesized. Perioperative factors associated with complications and prolonged intensive care unit length of stay were evaluated using logistic and linear regression analysis, respectively. Results: 207 patients received 240 cardiac procedures. At time of surgery, 45% of patients were 1–5 years old (n = 95). The top five procedures were repair of Ventricular Septal Defect, Patent Ductus Arteriosus, Atrial Septal Defect, Tetralogy of Fallot and Coarctation of the Aorta. 30-day mortality was 1.9% (n = 4) and 6.3% (n = 13) experienced a major complication. Additionally, 24% (n = 50) experienced minor complications, most commonly, pneumonia. The linear combination of surgery duration, cross clamp and bypass time was significantly associated with having complications (aOR = 0.67, p = 0.01). Younger age, longer operative times, number of inotropes and the presence of complications were associated with an increased intensive care unit stay. Conclusions: The 30-day surgical outcomes are favorable compared to programs with a similar case mix, showing that pediatric cardiac surgery can be safely performed in developing countries with local cardiac teams. Prolonged bypass and cross clamp times were associated with higher complication rates and increased inotrope use was associated with longer intensive care unit stay. [ABSTRACT FROM AUTHOR]

Congenital Anomaly is an anomaly that affects a body part or physiologic function and is present at birth. The exact antenatal prevalence of congenital anomalies in Libya is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the pattern of congenital anomalies and malformations for all cases were admitted in neonatal care unit in our hospital. This hospital based prospective descriptive study highlights the point pattern of congenital anomalies in one year. The number of congenital anomalies were 73 cases more in males than Female (M: F = 1.5: 1%). The pattern of congenital anomalies included CVS (36.3%), GIT (16.5%), genitourinary (14.3%), musculoskeletal (11%), CNS (6.6%), respiratory (4.4%), etc. In CVS the most common anomalies were ventricular septal defect, atrial septal defect and patent ducts. In GIT group, commonly imperforated anus followed by esophageal Artesia. In musculoskeletal group, telipes was most common malformation followed by spinabifida. In CNS, group hydrocephalus was the most common malformation followed by anencephaly and meningomyeleceole. Frequency of congenital anomalies was more in vaginal delivery as compared to cesarean born babies (2.7 % vs. 1.58%). in still born as compared to live born babies (5.5 % vs. 1.5 %) Present study stress upon the importance to carrying out Congenital Anomalies through clinical examination of neonate at birth. [ABSTRACT FROM AUTHOR]

Heart defects are the second most common congenital anomaly in babies born in the UK and standards state families should have access to a children’s cardiac nurse specialist telephone advice service. However, there is little published information to describe the nature of calls and the workload associated with telephone support. We conducted a prospective service evaluation of telephone calls received at one UK specialist children’s cardiac surgical center from parents/carers (April–June 2019). All inpatient cardiac teams (cardiology secretaries, inpatient cardiac wards, outpatient department and Clinical Nurse Specialist team) were asked to record calls on a purpose-designed template. This included recording of call duration and reason (from pre-defined categories), with the aim to identify the volume and nature of phone calls. Actions and time taken to resolve issues were not recorded. Data was entered into Excel and analyzed using descriptive statistics. In a seven-week period, 204 telephone calls were received; 41% (n = 83) to the clinical nurse specialist team, 25% (n = 51) to medical secretaries, 20% (n = 42) to cardiac ward staff and 14% (n = 28) to the cardiac outpatient department. The mean length of calls was 6.08 mins (SD 5.07 mins). Across all groups phone call duration totaled 20.8 hours. Sixty-two calls (31% of all calls) reflected 70 concerns/queries about a current health issue. The most common reasons included respiratory (n = 13), heart rate or rhythm (n = 12) and chest pain/pallor (n = 11). Sixty-five calls (32% of all calls) related to issues surrounding medications, with 23% (n = 15) related to dose queries and 49% (n = 32) related to repeat prescription requests or challenges obtaining prescriptions. The results demonstrated a high telephone support need for current health issues or medication queries which required timely assessment and support from health care professionals working across cardiac services. Further research is required to identify the time implications of dealing with phone calls and interventions to support parent/guardian assessment and communication about their concerns and medication management. [ABSTRACT FROM AUTHOR]

Purposes: Congenital microphthalmia with orbital cyst (CMOC) is a severe ocular developmental malformation. This article aims to provide assistance for genetic counseling and further exploration of more effective treatments. Methods: A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: "microphthalmos", "microphthalmia", "cyst", "morbidity", "congenital cystic eye", "histopathological", "molecular genetics", "syndrome", "treatment", "therapy", "surgery" and "surgical" etc. After the initial screening of these articles, repetitive literatures were excluded. Results: 63 articles were selected. This article reviewed the research progress on the incidence of CMOC, its relationship with congenital microphthalmos and congenital cystic eye, histopathology and molecular genetics studies, particularly the syndromes associated with this condition and the current treatment status. Conclusion: CMOC is essentially a disease caused by gene mutations, and there is no effective treatment that achieves consistent relief. Further research to clarify the genotype-phenotype and inheritance patterns of this disease may be a valuable research direction for exploring effective treatment methods and guiding clinical genetic counseling. [ABSTRACT FROM AUTHOR]

ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long‐term follow‐up. [ABSTRACT FROM AUTHOR]

Eighteen new cases of teratology and other abnormalities within scorpions are presented, representing new cases of metasomal duplication, mesosomal anomaly, telson anomaly, albinism, and abnormal pigmentation. Furthermore, recently published literature on other scorpion anomalies are tabulated to update the recent 2023 checklist of scorpion teratology which charted all known literature up to the aforementioned work. [ABSTRACT FROM AUTHOR]

Zinner syndrome (ZS) was first described by Zinner in 1914. This condition includes unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. ZS treatments ranging from medical drug therapy to laparoscopic interventions have been investigated in the literature. A 21-year-old patient presented with scrotal pain after ejaculation. The diagnosis was Zinner’s syndrome, and the patient underwent transperitoneal laparoscopic excision of the left seminal vesicle cyst. After 2 years, transurethral ejaculatory duct resection (TUR-ED) was performed at a single center because of symptomatic dilatation in the seminal vesicles. The patient’s 1-year urological follow-up after TUR-ED remained normal. This presentation is a case report of a single patient and two cases that are rare in the literature. Cyst aspiration and seminal cyst excision may be considered as first-line treatment options, but the possibility of recurrence should not be forgotten. Even if seminal cyst excision is performed, it should be kept in mind that TUR-ED may be required in the future. [ABSTRACT FROM AUTHOR]

Midgut malrotation with volvulus is a surgical emergency with potentially devastating outcomes which include short gut syndrome necessitating long-term parenteral nutrition, overwhelming sepsis, and death. The clinical presentation is most frequently with bilious vomiting in the first days–weeks of life, which is non-specific and common. Timely imaging investigation is therefore crucial to prevent delays to diagnosis and treatment and avoid unnecessary surgical exploration in infants with non-surgical bilious vomiting. Fluoroscopic upper gastrointestinal contrast series (UGI) has been the first-line imaging modality to investigate midgut malrotation at pediatric surgical centers worldwide. However, there is a growing body of evidence to indicate that ultrasound (US) has greater diagnostic accuracy than UGI in this context. Furthermore, US offers the benefits of accessibility, portability, lack of ionizing radiation, and the ability to identify alternative diagnoses, and is beginning to attract significant attention and consideration in the literature. Over the last 3 years, we have transitioned to an "US-first" pathway for the investigation of midgut malrotation in infants with bilious vomiting. This pictorial essay illustrates our comprehensive approach, describes unique troubleshooting techniques, and highlights the variably published pitfalls we have encountered with the aim of encouraging wider adoption. [ABSTRACT FROM AUTHOR]

Background Our team recently published outcomes of a novel technique for the administration of Collagenase Clostridium histolyticum (CCH), which resulted in improved curvature outcomes and reduced number of CCH injections required. Aim To provide a detailed and illustrated description of our CCH-administration technique. Methods A descriptive summary is provided of the technique, including drug administration, protocol modifications, and post-treatment protocols. Additional details are provided on measurement techniques and disease classification. Outcomes Key outcomes include a written and illustrated description of the injection technique and pre-, and postinjection management. Results The use of a modified CCH-administration technique has previously been shown to result in mean improvements of 54%–58% in penile curvature while significantly reducing the total number of injections applied. These findings represent the largest improvements published to date. Key aspects of the technique include back-to-back day administration of 0.9 mg suspended in 0.8 mL, application to an ~3 × 1 cm region, inclusion of the dorsal septum (exempting ventral curves), administration during a full erection (day 1), repeat artificial erections with the first injection of each series, in-office modeling (day 2), and post-treatment use of PDE5s and Restorex traction. Appropriate patient counseling on expectations and necessity of complying with all treatment protocols (including post-treatment wrapping) is critical to optimizing outcomes. Common side effects may include ecchymoses, hematomas, blood blisters, impacts on erections and penile sensation, bronzing of the skin, and skin scarring, while more severe complications are rare (<1%). Clinical Implications The current manuscript provides a more detailed description of previously published techniques to aid providers in implementation and to mitigate potential adverse events. Strengths and Limitations Strengths include reliance on the largest single-team series published on CCH outcomes, rigorous study methodology, prospective/sequential series, and step-wise improvements. Limitations include data obtained from a single center. Conclusion The current manuscript provides a detailed narrative and illustrated description of our current CCH-administration technique. [ABSTRACT FROM AUTHOR]

Introduction Material and Methods Results Conclusions To investigate the prevalence and timing of prenatal neurosonographic abnormalities after primary cytomegalovirus seroconversion by the first trimester of pregnancy. The additional value of magnetic resonance imaging (MRI) and the correlation between cytomegalovirus viral load in amniotic fluid and adverse neonatal outcomes were evaluated.A retrospective study between 2006 and 2022 examined data from 440 women with amniocentesis for periconceptional and first‐trimester cytomegalovirus seroconversion. Cases with positive amniocentesis and subsequent follow‐up were included. Prenatal neurosonography, MRI, and clinical outcomes were analyzed.Out of 190 women included, 37% (n = 70) presented with a normal neurosonography. Patients exhibiting abnormal neurosonography findings showed higher viral loads in amniotic fluid compared to those with a normal neurosonography (p = 0.002). In 26% (n = 49) the first abnormal ultrasound sign was already picked up at amniocentesis, and the most common ones were echogenic bowels (49%) and periventricular echogenicity (43%). With increasing gestational age, the likelihood of a new abnormal neurosonography finding decreases. MRI discovered additional abnormalities in 14% (n = 10).The results highlight the importance of combining diagnostic modalities, from amniocentesis to biweekly ultrasound monitoring and subsequent MRI evaluation, to capture the chronological progression and subsequent outcome of congenital cytomegalovirus. [ABSTRACT FROM AUTHOR]

Background: Revision surgery after syndactyly separation is challenging. Web creep and scarring have a great impact on function and appearance of the hand. There is a paucity of literature on revision surgery for syndactyly. The aim of this study is to present the outcomes of revision surgery for syndactyly. Methods: This retrospective study included patients who required revision surgery after syndactyly release for web creep, scar contracture affecting motion and/or bony deformities. Web creep was graded using the Withey classification and scars were graded as minimal, mild, moderate and severe based on the impact on range of motion (ROM). All patients underwent dorsal and volar triangular flaps for correction for web creep, multiple Z-plasty and/or proximal interphalangeal joint (PIPJ) release for correction of scar contractures and osteotomy for correction of angular/rotational bony deformities. Improvement in web creep grading, scar contracture and change in angular and/or rotational deformities were recorded. Results: The study included 9 hands in 7 patients who required surgery for 13 web creeps (four grade 2, four grade 3 and five grade 4), 20 scar contractures (five mild, seven moderate and eight severe), 6 angular (five ≤15° and one = 40°) and 1 rotational deformity. All web creeps improved to grade 1. Out of the 20 scar contractures, 14 improved to mild and 6 to moderate. Two patients underwent corrective osteotomy, one for rotational deformity and one for a 40° angular deformity which improved to 5°. Conclusions: Double opposing triangular flap presents a good option for revision of the web with no recurrence of web creep after a 1-year follow-up period. We suggest a grading system which assesses the effect of scarring on finger motion. Finally, avoiding straight volar suture lines decreases the incidence of recurrence. Level of Evidence: Level IV (Therapeutic) [ABSTRACT FROM AUTHOR]

Aims: Chagas disease (ChD) affects approximately 7 million people in Latin America, with benznidazole being the most commonly used treatment. Methods: Data from a retrospective cohort study in Argentina, covering January 1980 to July 2019, was reanalysed to identify and characterize benznidazole‐related adverse drug reactions (ADRs). Results: The study included 518 patients: 449 children and 69 adults (median age in children: 4 years; adults: 25 years; age ranges: 1 month–17.75 years and 18–59 years, respectively). The median benznidazole doses received were 6.6 mg/kg/day for at least 60 days in children and 5.6 mg/kg/day for a median of 31 days in adults. Overall, 29.34% (152/518) of patients developed benznidazole‐related ADRs, with an incidence of 25.83% (116/449) in children and 52.17% (36/69) in adults (odds ratio [OR] = 0.32, 95% confidence interval [CI] = 0.19–0.54, P <.001). The incidence rate was 177 cases per 1000 person‐years (95% CI = 145–214) in children and 537 per 1000 person‐years (95% CI = 360–771) in adults. There were 240 ADRs identified, primarily mild to moderate. Severe ADRs occurred in 1.11% (5/449) of children and 1.45% (1/69) of adults. The skin was the most affected system. A total of 10.23% (53/518) of patients discontinued treatment. More adults than children discontinued treatment (OR = 3.36, 95% CI = 1.7–6.4, P <.001). Conclusions: Although 29.34% of patients experienced ADRs, most were mild to moderate, indicating a manageable safety profile for benznidazole. While optimized dosing schedules and new drugs are needed, avoiding benznidazole solely due to safety concerns is not justified. [ABSTRACT FROM AUTHOR]

Posterior fossa congenital pial arteriovenous fistulas are rare vascular anomalies associated with high morbidity. These anomalies often present challenges to neurointerventionists due to their complex morphological features. We successfully treated two technically challenging, infratentorial large pial arteriovenous fistulas (AVFs) associated with complete flow steal in the basilar artery. The first case involved an 18-year-old male with a posterior fossa single-hole AVF characterized by dilated venous pouches and retrograde venous reflux. After an unsuccessful initial coiling attempt, this patient was treated using a double microcatheter coiling technique, supported by a large balloon for flow control. The second case involved a 9-month-old infant with a complex two-hole posterior fossa pial AVF and a large venous sac. This patient was treated with coil embolization of the fistula and with balloon protection of the vertebrobasilar junction. Both patients recovered without postoperative complications and showed significant improvement on follow-up. These cases provide valuable insights into the management and characteristics of pial arteriovenous fistulas. [ABSTRACT FROM AUTHOR]

Introduction: To date, recurrent neck abscesses associated with branchial anomalies are treated using a variety of techniques. Management strategies may include various imaging modalities and surgical methods. Endoscopic assessment and electrocauterization are the preferred diagnostic modalities and treatment strategies that have recently gained widespread acceptance and popularity. Methodology and results: This was a retrospective review on patients' medical record from 2016 to 2023. Seven patients underwent endoscopic cauterization at our centre, a tertiary academic institution. Five of the patients (71.5%) achieved complete remission. Two patients experienced recurrence within 6 months that necessitated re-cauterization once but subsequently recovered completely. Currently, endoscopic management is the preferred approach compared to the typical open neck excision surgery as it is significantly less invasive, resulting in lesser morbidity and similar success rates. At presentation, all of them had ultrasound neck that suggestive of neck abscess. Computed tomography or magnetic resonance imaging unable to provide adequate information about the side of internal opening of fistula where only 3 out of 7 patients demonstrated tract up to the ipsilateral region of pyriform fossa. Discussion: Management outcomes of this limited case series showed the potential benefits of endoscopic cauterization as the minimally invasive therapeutic method for recurrent neck abscesses caused by third and fourth branchial cleft fistulas but also to suggest the possibility as the first diagnostic tool prior to imaging studies. [ABSTRACT FROM AUTHOR]

Cholesteatoma is a mass of keratin debris in the middle ear cavity or mastoid. Congenital cholesteatomas may remain asymptomatic for many years and present during adulthood or may even be an incidental finding. We hereby describe a case of 41-year male with an isolated mastoid congenital cholesteatoma with sigmoid plate erosion and posterior cranial dura exposure extending into digastric muscle. Tympanomastoid exploration with sigmoid sinus resurfacing with hydroxyapatite granules was done. However, the case got complicated by extrusion of granules which was then successfully managed. This case report throws light on diagnosis and surgical management of isolated mastoid cholesteatoma. From this misadventure, we learnt that a successful mastoid cavity obliteration (using hydroxyapatite granules) in a canal wall up mastoidectomy can be achieved by providing hermetic seal. [ABSTRACT FROM AUTHOR]

Objectives: The digastric muscles have important roles in swallowing, chewing, speech, and landmark identification during neck dissection. The posterior belly of the digastric muscle (PBDM) is often useful for defining boundaries in surgical neck dissection as it contributes to the carotid, submandibular, and submental triangles. The cadaveric prevalence rate of anatomic variations in the digastrics has been reported to be 31.4% of the population with most occurring in relation to the anterior belly of the digastric muscle (ABDM). Few reports describe variations in the PBDM. While anatomic variants of the digastric muscles do not present with clinical manifestations, they can be mistaken as neck masses and contribute to intraoperative complications. Methods: We present a case report of a 73-year-old male with a past medical history significant for Parkinson's Disease, who was incidentally found to have a duplicate PBDM intraoperatively while receiving surgical management of a left buccal squamous cell cancer. Results: Nine months prior to surgery, the patient began experiencing trismus and some mild dysphagia that were eventually worked up to reveal left buccal squamous cell carcinoma (SCC). Prior to this, the patient did not have clinical symptoms demonstrating dysfunction that could be related to or indicative of this anatomical abnormality preceding symptoms related to left buccal SCC growth. The procedure included a wide local excision, left modified radical neck dissection and left submental artery island flap with suprahyoid neck dissection. The superior duplicate PBDM was found to be overlying the stylohyoid muscle. Conclusions: It is important for surgeons operating in the head and neck to be aware of the possibility of this rare variation, and to be conscientious when it is identified so that it does not prohibit or limit a thorough dissection of the neck structures where oncologic clearance is paramount. [ABSTRACT FROM AUTHOR]

The article discusses the anesthetic management of children with congenital heart disease (CHD) undergoing non-cardiac surgery, emphasizing the importance of understanding the physiological classification of CHD and long-term sequelae. Topics include the physiological approach to CHD classification, the long-term sequelae such as myocardial dysfunction and arrhythmias, and the risk stratification for non-cardiac surgery.

Background: Small bowel obstruction (SBO) is a known complication following congenital diaphragmatic hernia (CDH) repair, resulting in significant morbidity and potential mortality. Our study aims to evaluate the incidence and risk factors for SBO following CDH repair. Methods: A single-institution retrospective review evaluated all CDH births between January 2010 and September 2022 (n = 120). Risk factors for SBO were analyzed, including operative approach, type of repair, need for extracorporeal membrane oxygenation (ECMO), and additional abdominal surgeries (gastrostomy tube and fundoplication). Results: 120 patients were included. 16 (13%) patients developed an SBO, of which 94% were due to adhesive bands. The median time to SBO was 7.5 months. 15/16 (94%) patients required operative intervention. Need for ECMO (P < 0.01), prior gastrostomy tube (P < 0.01), and prior fundoplication (P < 0.01) were associated with an increased risk of SBO, as were longer time to initial CDH repair (6 days vs 3 days; P < 0.01) and longer length of initial hospitalization (63 days vs 29 days; P = 0.01). Discussion: Neonates with increased acuity of illness (ie, those requiring ECMO, additional abdominal operations, longer time to repair, and longer initial hospitalizations) appear to have an increased risk of developing adhesive SBO after CDH repair. More than 90% of patients who developed SBO required surgery. [ABSTRACT FROM AUTHOR]

BACKGROUND: Congenital maxillomandibular fusion is a rare disorder. Maxillomandibular fusion is usually discovered immediately after birth because the newborn is unable to open mouth or feed normally. The fusion defects can present with a wide range of severity, ranging from mucosal band (synechiae) to complete bony fusion (syngnathia). CASE DESCRIPTION: We report a case of congenital alveolar synechiae with posterior cleft palate in a 3-day-old male neonate. The newborn was managed with the help of a multi-disciplinary approach. CONCLUSION: Fusion of the gums is a very rare congenital anomaly. Early division of fibrous bands not only allows effective feeding but also prevents the development of facial deformities. However, anesthesia for this procedure can be challenging. [ABSTRACT FROM AUTHOR]

A four-month-old, 5.0-kg male castrated mixed-breed dog was presented for further evaluation of a heart murmur. A grade 6/6 left basilar, continuous heart murmur, and bounding femoral arterial pulses were observed, consistent with a patent ductus arteriosus (PDA). Transthoracic echocardiography confirmed the diagnosis of a large, left-to-right shunting PDA with severe left heart volume overload. Thoracic radiography revealed severe, alveolar lung disease in the right cranial, right middle, and right caudal lung lobes; no pulmonary infiltrate was observed in the left lung lobes. Unilateral pulmonary edema secondary to the PDA was diagnosed, which later resolved with medical management and transcatheter occlusion of the PDA with an Amplatz Canine Ductal Occluder. Unilateral pulmonary edema secondary to a PDA has not been previously reported in the dog. [ABSTRACT FROM AUTHOR]

Introduction: Dr Bhagwan Din Chaurasia is a legend in Indian Anatomy education. Being his student in 1977–78, I saw him closely and was inspired immensely to write his biography to pay my homage and tribute to this great 'guru'. Methods: Apart from my first-hand information and experience with Dr Chaurasia, I did extensive research on PubMed, Scopus and Google Scholar databases to extract his research publications. I also extracted his personal information from his old students at Gajra Raja Medical College, Gwalior (India), some of the main ones have been acknowledged in this paper. Results: Despite a shortened life, Dr Chaurasia's influence on the field remains immense. His book, Human Anatomy has been an essential guide for countless medical students around the world. He was not only a gifted teacher but also, a dedicated researcher, actively publishing in prestigious journals. Conclusion: Dr Chaurasia's legacy is a testament to the power of clear explanations, innovative teaching methods, and unwavering passion for Anatomy. The name Dr B. D. Chaurasia is synonymous with excellence in Anatomy education. His work will continue to inspire generations of medical professionals to come. [ABSTRACT FROM AUTHOR]

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In this study, we propose a new method for bioprinting 3D Spheroids to study complex congenital heart disease known as discrete subaortic stenosis (DSS). The bioprinter allows us to manipulate the extrusion pressure to change the size of the spheroids, and the alginate porosity increases in size over time. The spheroids are composed of human umbilical vein endothelial cells (HUVECs), and we demonstrated that pressure and time during the bioprinting process can modulate the diameter of the spheroids. In addition, we used Pluronic acid to maintain the shape and position of the spheroids. Characterization of HUVECs in the spheroids confirmed their uniform distribution and we demonstrated cell viability as a function of time. Compared to traditional 2D cell cultures, the 3D spheroids model provides more relevant physiological environments, making it valuable for drug testing and therapeutic applications. [ABSTRACT FROM AUTHOR]