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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.

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.

A major barrier to the impact of genomic diagnosis in patients with congenital malformations is the lack of understanding regarding how sequence variants contribute to disease pathogenesis and whether this information could be used to generate patient-specific therapies. Congenital diaphragmatic hernia (CDH) is among the most common and severe of all structural malformations; however, its underlying mechanisms are unclear. We identified loss-of-function sequence variants in the epigenomic regulator gene SIN3A in two patients with complex CDH. Tissue-specific deletion of Sin3a in mice resulted in defects in diaphragm development, lung hypoplasia, and pulmonary hypertension, the cardinal features of CDH and major causes of CDH-associated mortality. Loss of SIN3A in the lung mesenchyme resulted in reduced cellular differentiation, impaired cell proliferation, and increased DNA damage. Treatment of embryonic Sin3a mutant mice with anacardic acid, an inhibitor of histone acetyltransferase, reduced DNA damage, increased cell proliferation and differentiation, improved lung and pulmonary vascular development, and reduced pulmonary hypertension. These findings demonstrate that restoring the balance of histone acetylation can improve lung development in the Sin3a mouse model of CDH.

Recent years have witnessed exponential growth in cardiac imaging technologies, allowing better visualization of complex cardiac anatomy and improved assessment of physiology. These advances have become increasingly important as more complex surgical and catheter-based procedures are evolving to address the needs of a growing congenital heart disease population. This state-of-the-art review presents advances in echocardiography, cardiac magnetic resonance, cardiac computed tomography, invasive angiography, 3-dimensional modeling, and digital twin technology. The paper also highlights the integration of artificial intelligence with imaging technology. While some techniques are in their infancy and need further refinement, others have found their way into clinical workflow at well-resourced centers. Studies to evaluate the clinical value and cost-effectiveness of these techniques are needed. For techniques that enhance the value of care for congenital heart disease patients, resources will need to be allocated for education and training to promote widespread implementation.

BackgroundWhile obstructive sleep apnea (OSA) and insomnia symptoms in neurotypical populations are associated with Alzheimer's disease (AD), their association with dementia in adults with Down syndrome (DS) remains less clear, even though these symptoms are prevalent and treatable in DS. Understanding their associations with AD-related dementia status, cognitive impairment, and functional deterioration may lead to interventions to slow decline or disease progression in adults with DS.ObjectiveTo characterize differences in OSA and insomnia symptom expression by dementia status, and to determine which sleep factors support dementia diagnosis.MethodsMultimodal consensus conference was used to determine dementia status in 52 adults with DS (52.2 ± 6.4 years, 21 women). Cognitive impairment, adaptive behavior skills, and symptoms of OSA and insomnia were quantified using validated assessments for adults with DS and their primary informants.ResultsA sex by dementia status interaction demonstrated that older women with DS and dementia had more severe terminal insomnia but not OSA symptoms relative to older women with DS who were cognitively stable (CS). Greater insomnia symptom severity was associated with greater functional impairments in social and self-care domains adjusting for age, sex, premorbid intellectual impairment, and dementia status.ConclusionsInsomnia symptoms are more severe in women with DS with dementia than in women with DS and no dementia, and regardless of dementia status or sex, more severe insomnia symptoms are associated with greater impairment in activities of daily living. These findings underscore the potential importance of early insomnia symptom evaluation and treatment in women with DS at risk of developing AD.

Diagnosis of portosystemic shunts (PSS) in dogs often requires multiple diagnostic tests, and available clinicopathologic tests have limitations in sensitivity and specificity. The objective of this study was to train and validate a machine learning model (MLM) that can accurately predict the presence of a PSS utilizing routinely collected demographic data and clinicopathologic features. Dogs diagnosed with PSS or control dogs tested for PSS but had the condition ruled out (non-PSS) were identified. Dogs were included if a complete blood count and serum chemistry panel were available from PSS diagnostic testing. Dogs with a PSS were subcategorized as having a single intrahepatic PSS, a single extrahepatic PSS, or multiple extrahepatic PSS. An extreme gradient boosting (XGboost) MLM was trained with data from 70% of the cases, and MLM performance was determined on the test set, comprising the remaining 30% of the case data. Two MLMs were created. The first was designed to predict the presence of any PSS (PSS MLM), and the second to predict the PSS subcategory (PSS SubCat MLM). The trained PSS MLM had a sensitivity of 94.3% (95% CI 90.1-96.8%) and specificity of 90.5% (95% CI 85.32-94.0%) for dogs in the test set. The area under the receiver operator characteristic curve (AUC) was 0.976 (95% CI; 0.964-0.989). The mean corpuscular hemoglobin, lymphocyte count, and serum globulin concentration were most important in prediction classification. The PSS SubCat MLM had an accuracy of 85.7% in determining the subtype of PSS of dogs in the test set, with variable sensitivity and specificity depending on PSS subtype. These MLMs have a high accuracy for diagnosing PSS; however, the prediction of PSS subclassification is less accurate. The MLMs can be used as a screening tool to increase or decrease the index of suspicion for PSS before confirmatory diagnostics such as advanced imaging are pursued.

Purpose: To determine prevalence of musculoskeletal complaints (MSCs) in adults with major congenital upper limb differences (CoULD) compared to able-bodied controls, and to examine associations of MSCs and disability with various biopsychosocial factors. Materials and methods: Questionnaire-based cross-sectional study assessing MSCs, disability (using the Disabilities of the Arm, Shoulder and Hand questionnaire (DASH)), general and mental health status, physical work demands, and upper extremity range of motion. Results: Seventy-one individuals with CoULD (participation rate: 41%) and 71 controls matched on age, gender, and education were included (49% female, mean age 28.9 years). Year prevalence of MSCs was significantly higher in the CoULD group (35%) than in the control group (18%). The CoULD group was less often employed and had lower scores on all measures of upper limb range of motion and hand grip. MSCs were associated with higher DASH scores and higher reported work demands. Disability was associated with female gender, more joints with limited range of motion, unemployment, and lower general and mental health. Factors associated with disability did not differ between groups. Conclusions: MSCs are a frequent problem in young adults with major CoULD. To prevent or reduce MSC and disability, clinicians and researchers should be aware of the associated factors. Implications for rehabilitation: The year prevalence of musculoskeletal complaints (MSCs) in those with major congenital upper limb differences (CoULD) was approximately double to that of the control group, implying a potential relationship between CoULD and MSCs. Rehabilitation professionals should develop personalized strategies to manage work demands in those with CoULD, considering the association between MSCs and higher reported work demands. Recognizing the impact of a negatively perceived body image on mental health, clinicians should integrate psychological counseling into rehabilitation treatments to support mental well-being and improve overall quality of life in those with CoULD. Rehabilitation professionals should educate individuals with CoULD about the potential associations between upper limb work demands, MSCs, and disability. [ABSTRACT FROM AUTHOR]

Purpose: To report on the occurrence of postoperative visual axis opacification (VAO) in children younger than 5 years of age operated for cataract in Sweden, and to analyse correlations with age at surgery and surgical method. Methods: Data were derived from the Swedish Pediatric Cataract Register (PECARE). All children operated on between 1 January 2007 and 31 December 2020 were included. Follow‐ups at 1, 2 and 5 years of age were analysed. Results: Cataract surgery were performed on 770 eyes belonging to 549 children (n = 282 boys, 51.4%); 327/770 (42.5%) of the children underwent surgery before 3 months of age and 216/770 (28%) before 6 weeks of age. Data on 881 follow‐up visits were registered. At the follow up‐visits at 1, 2 and 5 years of age, VAO was present in 154/349 (44.1%), 41/323 (12.7%) and 25/208 (12%). The majority of the children with VAO underwent cataract surgery before age 6 months, with a predominance before age 2 months. Primary IOL was implanted in 601/770 (78%) of eyes; 40.8% had an acrylic one‐piece lens, 31.8% had a bag‐in‐the‐lens IOL, 21.9% were aphakic and 5.2% had an acrylic three‐piece lens. Implantation of a bag‐in‐the‐lens IOL was related to a significantly lower occurrence of VAO compared to other types of IOL, including aphakia (p < 0.0002). Conclusion: Our results are in accordance with the literature. Primary bag‐in‐the‐lens IOL implantation before 2 years of age seems adequate and safe, with a low occurrence of VAO, and can thus be continued as routine in Sweden. [ABSTRACT FROM AUTHOR]

Congenital diarrhoeas and enteropathies (CODE) are a heterogeneous group of disorders. Many affected infants present with catastrophic dehydration in the first few days of life, although the clinical phenotype is variable. Advances in the understanding of underlying pathomechanisms and genetic testing, as well as improved management, in particular intravenous nutrition support, have allowed affected patients to survive well beyond childhood. Awareness and understanding of these rare diseases are hence needed, both amongst paediatricians and adult physicians. In this review, we discuss the different groups of disorders based on a review of the current literature and provide a diagnostic and therapeutic approach. Many of the subtypes of CODE result in the need for prolonged or indefinite parenteral nutrition. Further research is needed to identify new CODE to improve the recognition and management of these children, which can assist in developing new targeted therapies and potentially a long-term cure. [ABSTRACT FROM AUTHOR]

Introduction: Despite being invasive, direct measurements remain the gold standard to measure intra-cranial pressure (ICP) in patients with craniosynostosis. However, there has been persistent effort to develop non-invasive modalities to measure ICP, possibly avoiding some of the risks of direct measurements. Here, we conduct a systematic review of the evidence behind various non-invasive modalities to monitor ICP in patients with craniosynostosis. Methods: A systematic review was conducted using PubMed, Cochrane, and Web of Science databases to identify studies describing the use of non-invasive ICP measurements in patients with craniosynostosis. Studies were included if they assessed a non-invasive method of ICP monitoring against a direct/invasive ICP monitoring technique in patients with craniosynostosis. Non-English and non-human studies were excluded. Results: A total of 735 studies were screened, of which 52 were included in the study. Nine methods of non-invasive ICP measurement were identified, with varying sensitivities and specificities in detecting elevated ICP. Specifically, optical coherence tomography (OCT), and ocular ultrasonography demonstrated ability to accurately measure ICP when compared to direct measurements. Conclusion: Here, we present the first systemic-review of the current literature surrounding non-invasive modalities to measure ICP in patients with craniosynostosis. While direct measurement remains the gold-standard, multiple reviewed modalities have shown promise in accurately measuring ICP. Of these, OCT has the most rigorous evidence supporting its use. Ocular sonography has also shown promise, albeit without as robust evidence supporting its use. Regardless, further investigation is required before any modality is able to obviate the need for invasive, direct measurements. [ABSTRACT FROM AUTHOR]

Aims Methods Results Conclusions Chagas disease (ChD) affects approximately 7 million people in Latin America, with benznidazole being the most commonly used treatment.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).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).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]

Background: Currently, the treatment outcomes for complex congenital arteriovenous malformations (AVMs) remain unsatisfactory. This article reports on the utilization of an abdominal aortic stent graft, in conjunction with embolization techniques, for managing acute heart failure triggered by complex congenital arteriovenous malformations in the lower limb. Case Presentation: We present a case involving a patient with congenital AVMs in the lower limb, who had suffered from prolonged swelling in the left lower limb and recently developed symptoms of heart failure. At the age of 67, the patient was definitively diagnosed with a complex congenital AVMs in the lower limb. This article delves into the practical experiences and limitations encountered in employing an abdominal aortic stent graft, coupled with embolization, to address acute heart failure caused by complex congenital AVMs in the lower limb. Conclusions: Our article presents the initial report on the challenges and limitations encountered in treating acute heart failure triggered by complex congenital AVMs in the lower limb, utilizing a combination of abdominal aortic stent graft placement and embolization techniques. [ABSTRACT FROM AUTHOR]

Congenital lacrimal drainage anomalies have several syndromic and non-syndromic associations reported in the literature. While the information is exhaustive, it may not be useful if someone wants to know the associations based on individual lacrimal anomalies quickly. For example, if someone wants to know the systemic associations of supernumerary punctum, it entails scanning of all the syndromes to note which of them reported the specific anomaly. Besides, several new associations have been reported in the last four years. Hence, the need was felt for a separate categorization in a catalogue form to access all the associations immediately, in an alphabetical order, and easily reference them. The present exercise allowed us to catalogue 73 systemic associations of CNLDO, 37 for punctal agenesis, 20 for punctal dysgenesis, 17 for congenital lacrimal fistulas, 9 for canalicular wall dysgenesis, and three each for supernumerary punctum and pediatric functional epiphora. [ABSTRACT FROM AUTHOR]

Background: Crossed fused renal ectopia (CFRE) is a common congenital anomaly where one kidney is positioned abnormally on the opposite side of the midline, often fused with the other kidney. However, single ureter draining crossed fused renal ectopia is a rare occurrence. Case report: Here, we report a case of crossed fused renal ectopia with a single ureter in a 46-year-old Nepali male who presented with history of lithuria. Computed tomography revealed that the left kidney was situated on the right side and fused with the right kidney. The renal pelvises of both kidneys were fused, and a single ureter, located on the right side, was draining both kidneys into the bladder. The patient was advised to have regular follow-ups. Conclusion: Crossed fused renal ectopia with a single ureter represents a rare renal anomaly. Asymptomatic patients can typically be managed conservatively. Regular follow-up is recommended to monitor renal function, calculus formation, infections, and malignant changes. [ABSTRACT FROM AUTHOR]

We describe cases of three infants who developed acquired colonic atresia presumed secondary to significant systemic cardiovascular compromise and in the absence of necrotizing enterocolitis. An acquired colonic atresia may present as feed intolerance and should be investigated with a lower gastrointestinal contrast study. We would also recommend routine lower gastrointestinal contrast study prior to stoma closure in an infant with history of significant cardiovascular compromise, even in the absence of significant widespread colonic inflammation such as necrotizing enterocolitis. [ABSTRACT FROM AUTHOR]

Pediatric cholesteatomas (PC) have multifactorial aetiology, spread aggressively and there are high chances of residual/ recurrent disease after treatment. The surgical technique to manage this entity has been debatable. This study was done to (i) enumerate the presentation of PC and the surgical techniques adopted (ii) analyse the outcomes viz., residual/ recurrence rates and hearing results. A cross sectional record based study was done on 618 cases of PC operated between 1983 and 2015, at a centre dedicated to otology and lateral skull base surgery. The data which was maintained on the basis of clinical and peri- operative findings was analysed. Otorrhea (59.2%) and hearing loss (54.2%) were the common symptoms. The surgeries done were: canal wall up (CWU) (44.3%), canal wall down (CWD) (41.1%), modified bondy's mastoidectomy (5.7%), radical mastoidectomy (4.9%), trans canal excision (1.8%) and subtotal petrosectomy (2.3%). The residual and recurrence rates were 12.6% and 7.9% respectively. A significant difference between the pre and post operative hearing was observed. The mean improvement in air bone gap was 7.7db. Residual/ recurrent disease were higher in CWU as compared to CWD group. The surgery should be individualised so that the patient remains disease free. [ABSTRACT FROM AUTHOR]

Branchial arch anomalies are considered congenital defects that can occur during fetal development. They may present as cysts, sinuses, or fistulae. Anomalies of the second branchial arch are the most common. The existence of bilateral complete fistulae is exceptionally rare. In this case report, a 5-year-old boy presented with recurrent episodes of bilateral neck swelling and watery discharge from openings on the anterolateral sides of his neck since birth. He was diagnosed with bilateral branchial fistulae after confirmation via a contrast-enhanced CT scan. Surgery was performed to entirely excise the fistula tracts bilaterally. Additionally, a bilateral tonsillectomy was performed to help prevent recurrence. [ABSTRACT FROM AUTHOR]

Congenital earlobe clefts are the most common lower auricular malformations. They represent a unique reconstructive challenge. The goal of surgery includes restoration of a natural lobular contour and volume as well as a fine surgical scar. Several surgical techniques have been described, most of which only address the cleft deformity but not the soft tissue deficiency. We hereby describe a technique which addresses both the cleft and improves soft tissue deficiency through a conchal cartilage graft. [ABSTRACT FROM AUTHOR]

Having health insurance is associated with better access to healthcare and lower rates of comorbidity in the general population, but data are limited on insurance's impact on adults with congenital heart disease (ACHD). The Congenital Heart Survey To Recognize Outcomes, Needs and well-beinG (CH STRONG) was conducted among ACHD in three locations from 2016 to 2019. We performed multivariable logistic regression to determine the associations between health insurance and both access to healthcare and presence of comorbidities. We also compared health insurance and comorbidities among ACHD to similarly-aged individuals in the Behavioral Risk Factor Surveillance System (BRFSS) as a proxy for the general population. Of 1354 CH STRONG respondents, the majority were ≤ 30 years old (83.5%), and 8.8% were uninsured versus 17.7% in the BRFSS (p < 0.01). Compared to insured ACHD, uninsured were less likely to report regular medical care (adjusted odds ratio [aOR] 0.2, 95% confidence interval [CI] 0.1–0.3) and visited an emergency room more often (aOR 1.6, CI 1.0–2.3). Among all ACHD reporting disability, uninsured individuals less frequently received benefits (aOR 0.1, CI 0.0–0.3). Depression was common among uninsured ACHD (22.5%), but insured ACHD had lower rates of depression than insured in the BRFSS (13.3% vs. 22.5%, p < 0.01). In conclusion, rates of insurance were higher among ACHD compared to the general population. Nonetheless, uninsured ACHD inconsistently accessed healthcare and benefits. Further studies are needed to determine if insurance ameliorates the risk of morbidity as ACHD age. [ABSTRACT FROM AUTHOR]

Fetal echocardiography may be performed because of noncardiac indications (the pregnancy is identified as high risk for fetal cardiac disease), or because of fetal cardiac indications (abnormal fetal heart at the time of a screening ultrasound). Considering recent improvements in fetal cardiac screening over the past decade, the goal of this single institution study was to reconsider the importance of performing fetal echocardiography purely for screening (noncardiac) indications. We performed a retrospective analysis to review screening and fetal cardiac indications and fetal cardiac findings for fetal echocardiograms performed at UCLA between 2015 and 2019. Fetal heart disease was identified in 391 (15%) of 2592 pregnancies in this study. Among these 391 cases, 227 (58%) occurred in low-risk pregnancies (without screening indications). While 79% of the cases of fetal cardiac disease were referred with fetal cardiac indications, 21% of the cases were referred with exclusively screening indications. Fetal cardiac disease was discovered on fetal echocardiograms in 4% of pregnancies referred for exclusively screening indications, but the frequency of fetal cardiac disease following normal fetal cardiac screening has decreased from 6% in 2015 to 3% in 2019. In our population, we recommend continued referral for fetal echocardiography for pregnancies identified as high risk for CHD. However, as fetal cardiac screening continues to improve, referral for fetal echocardiography following normal fetal cardiac screening will have diminishing value and yield. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process. Methods: A case–control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes. Results: Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%. Conclusion: The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality. [ABSTRACT FROM AUTHOR]

Enterocytes and liver cells fulfill important metabolic and barrier functions and are responsible for crucial vectorial secretive and absorptive processes. To date, genetic diseases affecting metabolic enzymes or transmembrane transporters in the intestine and the liver are better comprehended than mutations affecting intracellular trafficking. In this review, we explore the emerging knowledge on intracellular trafficking defects and their clinical manifestations in both the intestine and the liver. We provide a detailed overview including more investigated diseases such as the canonical, variant and associated forms of microvillus inclusion disease, as well as recently described pathologies, highlighting the complexity and disease relevance of several trafficking pathways. We give examples of how intracellular trafficking hubs, such as the apical recycling endosome system, the trans‐Golgi network, lysosomes, or the Golgi‐to‐endoplasmic reticulum transport are involved in the pathomechanism and lead to disease. Ultimately, understanding these processes could spark novel therapeutic approaches, which would greatly improve the quality of life of the affected patients. [ABSTRACT FROM AUTHOR]

To report a case of active retinochoroiditis in a neonate treated with intravitreal clindamycin as an adjuvant therapy. A 10-day-old infant presented with active retinochoroiditis lesions in both eyes along with hepatosplenomegaly, abdominal distension, and thrombocytopenia. The mother had a history of fever in the third trimester for which she received symptomatic treatment. The infant was treated with systemic anti-toxoplasma therapy along with intravitreal clindamycin in the severely affected eye. There was a significant faster resolution in the retinochoroiditis lesions, which eventually lead to better anatomical and visual outcomes. Active screening and timely intervention of the neonates who are born to mothers with fever during pregnancy can go a long way in preventing unlikely outcomes due to congenital toxoplasma retinochoroiditis. Intravitreal clindamycin can be considered as an adjuvant therapy in selected cases. [ABSTRACT FROM AUTHOR]

Currently, nearly 90% of patients with congenital heart disease (CHD) reach adulthood in relatively good health. Structured transition programs have emerged to support adolescents and young adults in transitioning to adult care structures, improve their autonomy, and limit healthcare ruptures. The TRANSITION-CHD randomized controlled trial aimed to assess the impact of a transition program on health-related quality of life (HRQoL) in adolescents and young adults with CHD. From January 2017 to February 2020, 200 subjects with a CHD, aged 13–25 years, were enrolled in a prospective, controlled, multicenter study and randomized in two balanced groups (transition program vs. standard of care). The primary outcome was the change in PedsQL self-reported HRQoL score between baseline and 12-month follow-up, using an intention-to-treat analysis. The secondary outcomes were the change in disease knowledge, physical health (cardiopulmonary fitness, physical activity), and mental health (anxiety, depression). The change in HRQoL differed significantly between the transition group and the control group (mean difference = 3.03, 95% confidence interval (CI) = [0.08; 5.98]; p =.044; effect size = 0.30), in favor of the intervention group. A significant increase was also observed in the self-reported psychosocial HRQoL (mean difference = 3.33, 95% CI = [0.01; 6.64]; p =.049; effect size = 0.29), in the proxy-reported physical HRQoL (mean difference = 9.18, 95% CI = [1.86; 16.51]; p =.015; effect size = 0.53), and in disease knowledge (mean difference = 3.13, 95% CI = [1.54; 4.72]; p <.001; effect size = 0.64). The TRANSITION-CHD program improved HRQoL and disease knowledge in adolescents and young adults with CHD, supporting the generalization and systematization of similar preventive interventions in pediatric and congenital cardiology. [ABSTRACT FROM AUTHOR]

Introduction: Pyeloplasty is the definitive management of ureteropelvic junction obstruction (UPJO). One of the challenging questions is when to perform pyeloplasty. We studied if improvement post-pyeloplasty in the first 3 months of life could show greater improvement in hydronephrosis than surgery at an older age. Patients and Methods: Patients with postnatally diagnosed UPJO and underwent pyeloplasty in the first year of life were retrospectively reviewed. We excluded patients with concomitant vesicoureteral reflux, and patients who had pyeloplasty because of UTI or missed follow-up. Patients were divided into two groups, according to the age at pyeloplasty, before and after the age of 3 months. We collected patients' demographics, anteroposterior diameter of the renal pelvis (APD), SFU grade, renogram data, perioperative data (surgery duration, hospital stay, and ureteral stent duration) and postoperative ultrasound changes. The percentage of change of APD (Δ%APD) was calculatedusing the formula: Δ%APD = [ (initial APD-last APD)/initial APD] *100. Results: We included 90 patients (93 renal units). 36 patients had pyeloplasty during the first 3 months of life and 57 patients at 3 -12 months. Patients' characteristics were similar in both groups except APD which was higher when pyeloplasty was done < 3 months of age (p = 0.02). Both groups had comparable perioperative parameters. After almost similar follow-up period of both groups. The Δ%APD was 58% when pyeloplasty was done < 3 months compared to 33% when was performed > 3 months (p = 0.009). Using Kaplan–Meier analysis, APD significantly improved when pyeloplasty was performed before the age of 3 months (p = 0.001). Conclusion: Early pyeloplasty, in the first 3 months of life, showed a significant improvement of APD postoperatively than those had surgery later. It is unclear if this will relate to less loss of renal function yet certainly this would be suspected and feel this finding provides some evidence for early intervention. [ABSTRACT FROM AUTHOR]

BACKGROUND: Waitlist mortality (WM) remains elevated in pediatric heart transplantation. Allocation policy is a potential tool to help improve WM. This study aims to identify patients at highest risk for WM to potentially inform future allocation policy changes. METHODS: The Pediatric Heart Transplant Society database was queried for patients <18 years of age indicated for heart transplantation between January 1, 2010 to December 31, 2021. Waitlist mortality was defined as death while awaiting transplant or removal from the waitlist due to clinical deterioration. Because WM is low after the first year, analysis was limited to the first 12 months on the heart transplant list. Kaplan-Meier analysis and log-rank testing was conducted to compare unadjusted survival between groups. Cox proportional hazard models were created to determine risk factors for WM. Subgroup analysis was performed for status 1A patients based on body surface area (BSA) at time of listing, cardiac diagnosis, and presence of mechanical circulatory support. RESULTS: In total 5974 children met study criteria of which 3928 were status 1A, 1012 were status 1B, 963 were listed status 2, and 65 were listed status 7. Because of the significant burden of WM experienced by 1A patients, further analysis was performed in only patients indicated as 1A. Within that group of patients, those with smaller size and lower eGFR had higher WM, whereas those patients without congenital heart disease or support from a ventricular assist device (VAD) at time of listing had decreased WM. In the smallest size cohort, cardiac diagnoses other than dilated cardiomyopathy were risk factors for WM. Previous cardiac surgery was a risk factor in the 0.3 to 0.7 m2 and >0.7 m2 BSA groups. VAD support was associated with lower WM other than in the single ventricle cohort, where VAD was associated with higher WM. Extracorporeal membrane oxygenation and mechanical ventilation were associated with increased risk of WM in all cohorts. CONCLUSIONS: There is significant variability in WM among status-1A patients. Potential refinements to current allocation system should factor in the increased WM risk we identified in patients supported by extracorporeal membrane oxygenation or mechanical ventilation, single ventricle congenital heart disease on VAD support and small children with congenital heart disease, restrictive cardiomyopathy, or hypertrophic cardiomyopathy. [ABSTRACT FROM AUTHOR]

Purpose: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without. Methods: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3–17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS). Results: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS. Conclusion: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients. [ABSTRACT FROM AUTHOR]

Nationwide incidence and risk factors for incisional glaucoma surgery post-infantile cataract (IC) surgery in children remain poorly understood. We conducted a population-based cohort study using the Korean national health claims database to identify IC patients diagnosed before age 1 who had IC surgery among all Korean born between 2008 and 2018 (n = 9,593,003). We estimated the annual occurrence of undergoing incisional glaucoma surgery following IC surgery in the general population aged 0–10. The risk factors for incisional surgery including systemic comorbidities and ophthalmic anomalies were analyzed by multivariable logistic regression. Of 650 patients who had undergone IC surgery with a mean (standard deviation [SD]) follow-up period of 6.2 (3.2) years, 92 (14.2%) were diagnosed with glaucoma following infantile cataract surgery (GFICS). Among them, 21 patients (22.8%) underwent incisional glaucoma surgery after a mean (SD) follow-up duration of 5.4 (2.8) years from the diagnosis of GFICS. Median (InterQuartile Range) age at incisional surgery was 4 (2,6) years old. Twenty of 21 patients (95.2%) underwent incisional glaucoma surgery within 3 years of diagnosis of GFICS. No factors, except younger age at glaucoma diagnosis (P = 0.03), were associated with undergoing incisional surgery. These findings can better understand the epidemiologic features and clinical courses of GFICS. [ABSTRACT FROM AUTHOR]

Objective Animals Studied Procedure Results Conclusions The aim of this report was to provide a clinical description and clinical, ultrasonographic, and histologic images of a foal with microphthalmia and multiple ocular abnormalities.A 12‐h old Friesian‐American Paint Horse crossbred filly presented for blindness, microphthalmia and marked ventral strabismus in both eyes.A complete ophthalmic examination was performed. Ultrasound biomicroscopy and B‐mode ultrasonography were performed. The globes were submitted for histopathology.Ultrasound biomicroscopy demonstrated a hyperechoic cornea void of the typical epithelium, stroma, and Descemet's membrane layers. The anterior chamber was spanned by thick strands of hyperechoic tissue extending from the iris to the cornea. The lens was not visualized. B‐mode ultrasound showed aphakia and mild, mottled echogenicity within the vitreous with no evidence of retinal detachment. On histopathology, both globes were microphthalmic with poorly defined corneal tissue. The anterior chambers were poorly formed and contained lacrimal glandular tissue. Portions of iridal tissue were present, but no lenses were noted. The retinas were segmentally detached and markedly atrophied with areas of retina dysplasia noted.This report provides a clinical, ultrasonographic and histologic description of a rare, congenital condition in a foal characterized by microphthalmia, aphakia, poorly defined corneal tissue, choristomatous differentiation of the anterior segment and retinal dysplasia. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the histopathologic findings of Levator palpebralis superioris (LPS) muscle biopsy after LPS resection for treatment of congenital ptosis and its possible relation with surgical outcomes.Please confirm if the author names are presented accurately and in the correct sequence (given name, middle name/initial, family name). Author 4 Given name: [Seyed Mohsen] Last name [Rafizadeh]. Author 6 Given name: [Seyed Ali] Last name [Sonbolestan].Also, kindly confirm the details in the metadata are correct.The author names and the sequence are correct. Methods: Congenital ptosis patients were enrolled in this retrospective study. All of them underwent full ophthalmologic examination included of Margin-reflex distance 1 (MRD-1) and LPS function measurement preoperatively. The patients were followed for 3 months for the postoperative period and after that the measurements were repeated. Histologic parameters including percentages of fat, striated and smooth muscle, and fibrous tissue. The histopathologic findings and their possible correlation with the measurements are analyzed. Results: Sixty-seven patients with unilateral congenital ptosis were enrolled. 45 patients (67.2%) were males. The mean age of patients was 16.10 ± 11.18 years. The patients' MRD-1 was improved significantly from 0.82 ± 1.26 mm to 3.85 ± 1.25 mm after LPS resection (P = 0.000). The success rate was 80.3%. There were no correlations between MRD change and histopathologic tissue percentages but significant correlation was found between success of surgery and fibrous tissue percentage of resected sample (P = 0.033). Conclusions: The histopathology of the LPS may be useful in prediction of surgical outcome after LPS resection in congenital ptosis patients. The percentage of fibrous tissue play an important role. [ABSTRACT FROM AUTHOR]

Adeloye-Odeku disease was initially reported as an African congenital cyst in 1971, but this disease is now been documented worldwide. Adeloye-Odeku disease is classified as a congenital subgaleal inclusion dermoid cyst of the anterior fontanelle region. Mostly, this disease occurs in infants or children. This is the first case report of Adeloye-Odeku disease in Indonesia. The case report of a 5-month girl is presented with a lump that had developed since birth. The characteristic of lump was soft, non-tender, dome-shaped, and positive transillumination results. A computed tomography (CT) scan was carried out, with the result of a subgaleal dermoid inclusion cyst in the anterior fontanelle region. The anterior fontanelle appeared widened without intracranial expansion. Surgical excision of the cyst was performed under general anesthesia successfully. Histopathologic examination showed dermoid cysts without malignancy features. There were no complications reported when the patient attended the follow-up visit at the outpatient clinic. This is consistent with the existing literature on Adeloye-Odeku disease. [ABSTRACT FROM AUTHOR]

Cytomegalovirus (CMV) is the leading infectious cause of brain defects and neurological dysfunctions, including sensorineural hearing loss (SNHL). Targeted screening in neonates failing the hearing screen is currently recommended in Italy according to national guidelines. However, SNHL may not be present at birth; also, congenital CMV (cCMV) may manifest with subtle signs other than SNHL. Therefore, the inclusion of additional criteria for cCMV screening appears clinically valuable. Starting January 2021, we have implemented expanded targeted cCMV screening at our center, with testing in case of maternal CMV infection during pregnancy, inadequate antenatal care, maternal HIV infection or immunosuppression, birthweight and/or head circumference < 10th centile, failed hearing screen, and prematurity. During the first three years of use of this program (2021–2023), 940 (12.3%) of 7651 live-born infants were tested. The most common indication was birthweight < 10th centile (n = 633, 67.3%). Eleven neonates were diagnosed as congenitally infected, for a prevalence of 1.17% (95%CI 0.48–1.86) on tested neonates and of 0.14% (95%CI 0.06–0.23) on live-born infants. None of the cCMV-infected newborns had a failed hearing screen as a testing indication. Implementation of an expanded cCMV screening program appears feasible and of clinical value. [ABSTRACT FROM AUTHOR]

Introduction One of the paths in the investigation of congenital sensorineural hearing loss (CSNHL) is to try to characterize its etiology through the inner ear evaluation using high resolution computer tomography (CT) scans. With minor malformation, it is not always possible for a simple visual inspection to recognize if the structure in the inner ear is normal or not. Objective To verify if measurements of the inner ear are predictive of sensorineural hearing loss (SNHL) and suggest cutoff points of size limits. Methods Retrospective cross-sectional study of inner ear CT scan measurements of 214 patients, 50 with congenital SNHL (CSNHL) and 164 acquired SNHL (ASNHL) (control group). Results In the CSNHL group, central bony island (CBI) were 0.48 mm smaller (p < 0.001), cochlear nerve aperture was (CNA) 0.10 mm smaller (p < 0.001), and cochlea height was (CH) 0.15 mm smaller (p < 0.001). Vestibular aqueduct (VA) and cochlea width (CW) were similar between groups (0.70 vs 0.72, p = 0.19, and 7.20 vs 7.15 p = 0.23). The predictive cutoff points for CSNHL were CBI = 3.6 mm, CAN = 1.4 mm, CH = 3.4 mm, CW = 7.0 mm, and VA = 0.9 mm. Conclusion Congenital sensorineural hearing loss determined a decrease in CBI, opening of the cochlear nerve (OCN), and CW. Thus, these measures, at the cutoff points indicated, should make us aware of the diagnosis of congenital hearing loss. [ABSTRACT FROM AUTHOR]

Syndactyly is one of the most common congenital anomalies of the extremities. It consists of a digital malformation in which the adjacent fingers and/or toes are fused by a failure to separate them during gestational development. This can be classified as complete (up to the fingertips) or incomplete and simple (cutaneous) or complex (with bony fusion). The complicated form involves a significant alteration of the digital anatomy and is usually syndromic. The importance of timely diagnosis and treatment lies in the cosmetic and functional impact of the hand, being the main working tool of the human being, and given its complex anatomy and function, which differentiates us from other species, it is imperative the correction before the sequelae phase, being necessary in the vast majority of cases surgical treatment. [ABSTRACT FROM AUTHOR]

Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder. The condition is characterised by an inability of distal nephron segments to respond to normal or raised concentrations of serum antidiuretic hormone. In this report, we describe the case of a 13‐year‐old male known with CNDI who experienced a pedestrian vehicle accident leading to coma following a head injury. Intra‐operatively, severe hypernatraemia and polyuria were observed. Following an inadequate response to conventional therapy, acetazolamide was prescribed resulting in an immediate response to therapy. To the best of our knowledge, acetazolamide has not been previously documented as a therapeutic option for CNDI. Additional research is necessary before considering the recommendation of acetazolamide for cases of NDI that do not respond adequately to conventional treatments. [ABSTRACT FROM AUTHOR]

Purpose: The present study aimed to evaluate the role of early and delayed surgery in congenital brain tumors and analyze the clinical outcomes of infantile brain tumors. Materials and Methods: We performed a retrospective cohort study on 69 infantile brain tumors at a single institution from January 2008 to June 2023. Outcomes were assessed as early mortality (within 30 days following surgery) to evaluate the risk of early surgery in congenital brain tumors. Outcomes of recurrence and overall survival were analyzed in infantile brain tumors. Results: Surgery-related early mortality appeared to occur in young and low-body-weight patients. Cut-off values of age and body weight were found to be 1.3 months and 5.2 kg to avoid early mortality. Three patients (3/10, 30%) showed early mortality in the early surgery group, and early mortality occurred in one patient (1/14, 7.14%) in the delayed surgery group, whose tumor was excessively enlarged. Younger age at diagnosis (< 3 months of age; hazard ratios [HR], 7.1; 95% confidence intervals [CI], 1.4 to 35.6; p=0.018) and leptomeningeal seeding (LMS; HR, 30.6; 95% CI, 3.7 to 253.1; p=0.002) were significant independent risk factors for high mortality in infantile brain tumors. Conclusion We suggest delaying surgery until the patient reaches 1.3 months of age and weighs over 5.2 kg with short-term imaging follow-up unless tumors grow rapidly in congenital brain tumors. Younger ages and the presence of LMS are independent risk factors for high mortality in infantile brain tumors. [ABSTRACT FROM AUTHOR]

Key Clinical Message: In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed. As such, patients who have undergone long‐term endocrine treatment for congenital adrenal hyperplasia could potentially be subjected to a higher risk for SCFE. [ABSTRACT FROM AUTHOR]

To explore the parent–child relationship through the subjective experience of adolescents with congenital heart disease (CHD). A descriptive phenomenology approach was adopted. Twelve adolescents aged from 12 to 18 years with CHD were recruited from the pediatric cardiology clinics at two medical centers in Taiwan. Data were collected through in-depth interviews. Data were analyzed using Colaizzi's phenomenological analysis method, and results were reported in accordance with the Consolidated Criteria for Reporting Qualitative Research guidelines. The experiences of the adolescents with CHD revealed five themes: 1. the enhancement of self-worth through parents' love; 2. the importance of parental support in desperate situations; 3. the development of a sense of security through mutual understanding; 4. growth under parental expectations; and 5. parental overcontrol disguised as love. The parent–child relationship encompasses both positive and negative experiences. Adolescents prioritize their relationship with parents over that with peers. Nurses caring for adolescents with CHD can improve care by recognizing the influence of parental love, support in challenges, mutual understanding, parental expectations, and potential negative consequences of overcontrol. This insight guides effective guidance for adolescents, enhancing parent–child interactions and overall well-being. • CHD adolescents gain self-worth from parental love and sibling equality. • CHD adolescents rely on parents for bullying issues, prioritize parental bonds over peers. • CHD adolescents navigate parental overprotection, balancing independence and reliance. • CHD adolescents trust parental medical choices, pursue academic goals. • Nurses observe adolescent–parent interactions, improving family dynamics. [ABSTRACT FROM AUTHOR]

To investigate the impact on caregivers of caring for a child with congenital upper extremity differences. In this cross-sectional study, caregivers of patients enrolled in the multi-institutional Congenital Upper Limb Difference (CoULD) registry were contacted. Demographic information and the Impact on Family Scale (IOFS), a validated measure of perceived caregiver strain, were collected. Patient-reported outcome measures from the CoULD registry, the Pediatric Outcomes Data Collection Instrument (PODCI), and Patient-Reported Outcomes Measurement Information System (PROMIS) were also analyzed for correlation with IOFS. Two hundred ninety-nine caregivers participated. Factors with significantly stronger impact on family included public insurance; bilateral upper extremity involvement; household income of $20,000-40,000; additional musculoskeletal diagnosis; and a single adult caregiver household. There was a significantly increased subcategory of IOFS-Finance score for distant travel to see the surgeon. Additionally, all categories of the PODCI (upper extremity, mobility, sports, pain, happiness, and global) demonstrated a negative correlation with IOFS. PROMIS upper extremity and peer relations also demonstrated an inverse relationship with IOFS, whereas PROMIS pain interference had a positive correlation with IOFS. The overall IOFS for children with CoULDs was greater than previously reported for children with brachial plexus birth injury, and less than cerebral palsy and congenital heart disease. Caregivers of children with congenital upper extremity differences report a significant impact on family life. Socioeconomic factors, such as economically disadvantaged or single-caregiver households, and clinical factors, such as bilateral upper extremity involvement, correlate with greater family impact. These findings represent opportunities to identify at-risk families and underscore the importance of caring for the whole family through a multidisciplinary approach. Prognostic II. [ABSTRACT FROM AUTHOR]

Background: Congenital clasped thumb is associated with deficient thumb extensor tendons. Reconstruction includes tendon transfer. Here, we describe a variant of the abductor pollicis longus (APL) tendon, not previously reported, contributing to the flexion deformity. The purpose of this study is to report examples of and offer surgical repair techniques for APL variants identified in patients with clasped thumb. Methods: We reviewed records of 11 consecutive patients undergoing reconstruction for clasped thumb. Surgical anatomy of the APL tendon was evaluated in all patients, followed by release of aberrant APL attachments. Participants were invited to return for an in-person assessment with a certified hand therapist. Data were collected regarding intraoperative findings, surgical techniques for reconstruction, postoperative thumb motion, and patient and caregiver satisfaction. Results: Eleven children (12 thumbs) underwent aberrant APL release and rerouting between 2019 and 2021. Preoperatively, all thumbs were passively correctible to 0° of extension. In all patients, the APL was found to terminate palmar to the metacarpophalangeal (MCP) joint, creating an MCP flexion moment when tensioned. The average age at surgery was 7 years (range: 1-15 years), and the average follow-up was 14.2 months (range: 1-21 months). The mean postoperative thumb radial abduction was 55° (range: 20°-75°). Conclusions: When reconstructing clasped thumbs, surgeons should explore the presence of APL abnormalities. Release and centralization of the APL can improve thumb position and function. This technique may avoid the need for extra-anatomical tendon transfer in patients with clasped thumb. [ABSTRACT FROM AUTHOR]

This study evaluates the long-term donor site outcomes after second toe transfers for congenital hand differences performed during childhood. In total, 25 toe transfers in 18 patients were followed up for a mean period of 17.4 years. We examined the patients clinically, radiologically and with a gait analysis system. Patient-reported outcome measures were collected. The patients were asymptomatic and there were no problematic clinical or radiological findings. Patients expressed high levels of satisfaction. The results were consistent, regardless of the resection level in the toe transfer or whether the operation was unilateral or bilateral. No postoperative complications or late reoperations on the foot were observed. Level of evidence IV [ABSTRACT FROM AUTHOR]

Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has improved our understanding of auditory physiology and potential therapeutic targets. Hearing loss gene panels offer comprehensive genetic testing for hereditary hearing loss, and advancements in sequencing technology have made genetic testing more accessible and affordable. Currently, genetic panel tests available at a relatively lower cost are offered to patients who face financial barriers. In this study, clinical and audiometric data were collected from six pediatric patients who underwent genetic panel testing. Known pathogenic variants in MYO15A, GJB2, and USH2A were most likely to be causal of hearing loss. Novel pathogenic variants in the MYO7A and TECTA genes were also identified. Variable hearing phenotypes and inheritance patterns were observed amongst individuals with different pathogenic variants. The identification of these variants contributes to the continually expanding knowledge base on genetic hearing loss and lays the groundwork for personalized treatment options in the future. [ABSTRACT FROM AUTHOR]

A common feature of congenital heart disease is the presence of right ventricular outflow tract (RVOT) obstruction that can range from mild to severe and can lead to atresia of the pulmonary valve, in extreme conditions. RVOT abnormalities can frequently be corrected surgically or via interventional means. However, most of these patients will ultimately develop pulmonary valve insufficiency and eventual right ventricular dilation, which will require a pulmonary valve replacement at some point in their life to mitigate the detrimental effects of pulmonary valve regurgitation (PVR) on the right ventricle (RV). The evolution from the studies done by Philip Bonhoeffer to implant a pulmonary valve via transcatheter means, have provided a bedrock for transcatheter pulmonary valve replacement (TPVR). Yet, several areas of unmet need for a demographic of patients still exist. Here, we discuss the clinical unmet needs in children under 20 Kg and expand the use of hybrid and other TPVR approaches along with the current indications and contraindications for pulmonary valve replacement. The constraints and limitations from commercially available pulmonary valves will be discussed from a clinical standpoint. Finally, we explore the use of hybrid and periventricular delivery of transcatheter pulmonary valves in younger patients.