Birth defects

BACKGROUND: Prenatal exercise improves birth outcomes, but research into exercise dose-response effects is limited. METHODS: This study is a retrospective, secondary analysis of pooled data from three blinded, prospective, randomized controlled trials. Prenatal exercise frequency, intensity, type, time, and volume (FITT-V) were assessed in supervised sessions throughout pregnancy. Gestational age (GA), neonatal resting heart rate (rHR), morphometrics (body circumferences, weight-to-length and ponderal index) Apgar and reflex scores, and placental measures were obtained at birth...

BACKGROUND: Congenital dislocation of the knee is characterised by excessive knee extension or dislocation and anterior subluxation of the proximal tibia, and this disease can occur independently or coexist with different systemic syndromes. Nevertheless, significant controversy surrounds treating this disease when combined with hip dislocation. This paper presents a case of a 4-month-old patient diagnosed with bilateral hip dislocation combined with this disease. The study discusses the pathophysiology, diagnosis, and treatment methods and reviews relevant literature...

The niche is typically considered as a pre-established structure sustaining stem cells. Therefore, the regulation of its formation remains largely unexplored. Whether distinct molecular mechanisms control the establishment versus maintenance of a stem cell niche is unknown. To address this, we compared perinatal and adult bone marrow mesenchymal stromal cells (MSCs), a key component of the hematopoietic stem cell (HSC) niche. MSCs exhibited enrichment in genes mediating m6 A mRNA methylation at the perinatal stage and downregulated the expression of Mettl3, the m6 A methyltransferase, shortly after birth...

OBJECTIVE: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's hospital (AUCH), Alexandria, Egypt, during the period between 2018 and 2023...

Laryngeal atresia is a rare congenital condition that presents with hypoxia and failed intubation attempts at birth. When diagnosed prenatally, options exist to obtain airway access during delivery. However, postnatal diagnosis requires a high degree of clinical suspicion and the prompt initiation of surgical airway management in order to avoid morbidity and mortality.

OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA. METHOD: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects...

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes are known, they are insufficient to reveal the causes for all patients. Our previous studies indicated GEN1 as a pathogenic gene of CAKUT in mice, and this study further investigated the correlation between GEN1 and human CAKUT. METHODS: In this study, DNA from 910 individuals with CAKUT was collected; 26 GEN1 rare variants were identified, and two GEN1 (missense) variants in a non-CAKUT group were found...

The cohort consisted of 9400 exposed children diagnosed with ventricular septal defect (VSD). The risk of community-acquired pneumonia (CAP) or asthma with VSD was assessed using the Cox proportional hazard model with an inverse probability of treatment weighting. During a mean follow-up of 6.67 years (starting from 12 months after birth), there were 2100 CAP admission cases among exposed patients (incidence rate: 33.2 per 1000 person-years) and 20,109 CAP admission cases among unexposed children (incidence rate: 29...

Inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, that provokes a blockage in a specific metabolic pathway. Individually, IMD are considered rare diseases, with an incidence of less than 1/100,000 births. The symptoms are usually multisystemic, but frequently include cardiac manifestations. Of these, the most common are cardiomyopathies, especially hypertrophic cardiomyopathy. In addition, they can cause dilated or restrictive cardiomyopathy and non-compacted cardiomyopathy of the left ventricle...

Congenital heart disease is a prevalent birth defect, accounting for approximately one-third of major birth defects. The challenge lies in early detection, especially in underdeveloped medical regions where a shortage of specialized physicians often leads to oversight. While standardized chest x-rays can assist in diagnosis and treatment, their effectiveness is limited by subtle cardiac manifestations. However, the emergence of deep learning in computer vision has paved the way for detecting subtle changes in chest x-rays, such as lung vessel density, enabling the detection of congenital heart disease in children...

BACKGROUND: Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the world. Much efforts have been made to investigate the reasons that contribute to NTD and explore new ways to for prevention. We trawl the past decade (2013-2022) published records in order to get a worldwide view about NTDs research field. METHODS: 7,437 records about NTDs were retrieved from the Web of Science (WOS) database...

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BACKGROUND: Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in the ACE, REN, AGT, and AGTR1 genes, affects various enzymes or receptors within the Renin angiotensin system (RAS). This condition manifests prenatally with oligohydramninos and postnatally with persistent anuria, severe refractory hypotension, and defects in skull ossification...

BACKGROUND: Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear. OBJECTIVE: To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities. DESIGN: A review across four databases to identify English language journal articles of EIF using a cohort study design...

Efficient separation of Kr from Kr/Xe mixtures is pivotal in nuclear waste management and dark matter research. Thus far, scientists have encountered a formidable challenge: the absence of a material with the ability to selectively adsorb Kr over Xe at room temperature. This study presents a groundbreaking transformation of the renowned metal-organic framework (MOF) CuBTC, previously acknowledged for its Xe adsorption affinity, into an unparalleled Kr-selective adsorbent. This achievement stems from an innovative densification approach involving systematic compression of the MOF, where the crystal size, interparticle interaction, defects, and evacuation conditions are synergistically modulated...

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with F508del being the most prevalent mutation. The combination of CFTR modulators (potentiator and correctors) has provided benefit to CF patients carrying the F508del mutation; however, the safety and effectiveness of in utero combination modulator therapy remains unclear. We created a F508del ferret model to test whether ivacaftor/lumacaftor (VX-770/VX-809) therapy can rescue in utero and postnatal pathologies associated with CF...

Background: Aortopulmonary window (APW) is a rare anomaly with variable morphology and associated cardiac anomalies. We evaluated impact of patient and operative factors on mid-term outcomes following APW repair. Methods: Twenty-nine patients underwent surgical APW repair at our institution from 1996 to 2022. Eight (28%) had simple APW, accompanied by only atrial septal defect or patent ductus arteriosus; 21 (72%) had complex APW with additional cardiovascular lesions, including nine with interrupted aortic arch...

Introduction Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC. Methods We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs...

Systemic lupus erythematosus (SLE) and other autoimmune diseases are thought to develop in genetically predisposed individuals when triggered by environmental factors. This paradigm does not fully explain disease development, as it fails to consider the delay between birth and disease expression. In this review, we discuss observations described in T cells from patients with SLE that are not related to hereditary factors and have therefore been considered secondary to the disease process itself. Here, we contextualize some of those observations and argue that they may represent a pathogenic layer between genetic factors and disease development...

OBJECTIVES: Predicting whether balloon atrial septostomy (BAS) will be necessary after birth for fetuses with d-transposition of the great arteries (d-TGA) remains challenging. We sought to determine whether measurements obtained during fetal maternal hyperoxygenation (MH) testing can improve our ability to predict need for postnatal BAS. METHODS: Forty-one mothers carrying fetuses with d-TGA with either intact ventricular septum or small ventricular septal defect measuring <3mm underwent MH testing between 33-38 weeks gestation...