Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.

Background: Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies. Since the phenotypes are suggested to be determined by the extent of spliceosome dysfunction, an alternative experimental system that can seamlessly control SF3b function is needed.

Remnants of right venous valve in utero and early postnatal life. Case report and literature review.

During fetal life the right valve of the sinus venosus directs oxygenated blood from the inferior vena cava to the left atrium through the foramen ovale, until the regression of the right valve which usually occurs within the 15th week of pregnancy. Incomplete regression of the right venous valve in varying degrees can lead to different types of remnants such as the Eustachian valve, the Chiari Network and Cor Triatriatum Dexter. Prenatal diagnosis of remnants of right venous valve has only rarely been reported in the literature.

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.

Background: Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.

Methods: We analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.

Retrospective cumulative dietary risk assessment of craniofacial alterations by residues of pesticides.

In 2022, the European Food Safety Authority (EFSA) conducted a dietary cumulative risk assessment for active substances of plant protection products on two types of craniofacial alterations: 1) craniofacial alterations due to abnormal skeletal development and 2) head soft tissue alterations and brain neural tube defects. These effects were selected based on developmental biology knowledge and a hypothetical teratogenic process. Cumulative risk assessment was conducted for 14 European populations of women in childbearing age.

Pictorial Essay: 18F FDG Brain PET-MR in Congenital Brain Anomalies Presenting With Seizures.

Brain development is a very complex process that starts within first 20 days of gestation. By the third week, prosencephalon (forebrain), mesencephalon (midbrain), and rhombencephalon (hindbrain) appear. Failure of brain development can occur at any level.

Neglected Case of Cervical Meningocele in an Adult.

Neural tube defects (NTD), caused by a disturbance in the neurulation process, are easily diagnosed and treated in the early years of life. Although early repair of NTD is advocated, there is lacking information on its natural course. There are only 11 cases, including this one, reported in literature of a cervical meningocele diagnosed and treated in an adult.

Analysis of the Cranial Aperture of the Optic Canal in Patients with Chiari Type-I Malformation.

Aim: To examine the morphological properties of the cranial aperture of the optic canal (CAOC) in patients with a Chiari type-I malformation (CIM).

Material And Methods: Radiological images of 40 patients with CIM (24 females/16 males, mean age: 20.75 ± 14.

Delays in Treatment for Temporal Encephaloceles and Cerebrospinal Fluid Leaks.

Objective: Lateral skull base defects (LSBD) pose a diagnostic challenge; however, early recognition and treatment are important to avoid sequelae. This study examines the impact of health care disparities associated with time to diagnosis and treatment for patients with LSBD.

Study Design, Setting, Patients, Intervention, Outcome Measures: Multi-institutional retrospective cohort study at four U.

Double the Diagnosis: A Case Report of Dizygotic Twins With Meningomyelocele.

The formation of neural tube defects, such as a meningomyelocele, is often sporadic and more common in monozygotic twin gestations but can be associated with folic acid deficiency and rarely occurs in dizygotic twins. In this case report, we present dizygotic twins born in the United States with meningomyeloceles. In addition, their neural tube defects were complicated by hydrocephalus and decreased muscle tone and movement in the lower extremities.

From Awareness to Action: Addressing Folic Acid Supplementation in Western India Among Women of Reproductive Age.

Background Folate, a vitamin B9, can be sourced naturally in the diet or the form of supplements. Studies highlight the prevention of neural tube abnormalities in women of reproductive age. To prevent these, low daily doses of FA (400-800 μg) are recommended for all women planning pregnancy, with higher doses for those with previous NTD-affected pregnancies.

Optimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review.

Introduction: Congenital anomalies are one of the major causes of the global burden of diseases, and low- and middle-income countries (LMICs) are disproportionately affected. This review assesses the prenatal and postnatal screening methods and compares the prevalence of major congenital anomalies in LMICs.

Methodology: We conducted a systematic search in MEDLINE/PubMed, CINAHL, Cochrane databases of systematic reviews, clinical trials.

Health status, functioning and risk profiles for secondary health conditions in adolescents and young adults with spina bifida: a cross-sectional study at time of transition.

Introduction: The transition from paediatric to adult medical care is a critical period for adolescents with spina bifida, often marked by deteriorating health and functional status.

Objectives: To describe the health status and functioning of individuals with spina bifida at the time of transition from paediatric to adult care and to identify risk profiles for potentially modifiable secondary health conditions (urinary tract infections, pressure injuries, respiratory problems and obesity).

Methods: Descriptive study of data (derived from medical records) from all adolescents and young adults with spina bifida aged 15-25 years who were referred to a single specialised spinal cord injury centre as part of the transition programme during the period from 1 September 2015 to 31 May 2022.

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.

New functions of B9D2 in tight junctions and epithelial polarity.

Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating causes of neuronal and skeletal development disorders, the origins of other ciliopathy-related conditions, such as hepatic fibrocystic diseases, remain elusive. Additionally, attempts to correlate specific ciliary proteins with distinct phenotypes have been largely unsuccessful due to the variable and overlapping symptoms of ciliopathies.

A Single-Centre Analysis of Surgical Techniques for Myelomeningocele Closure: Methods, Outcomes, and Complications.

(1) Background: Neural tube defects are a prevalent cause of congenital malformations, myelomeningocele (MMC) being the most severe form. This study evaluates the clinical outcome and postoperative-associated complications following MMC surgical closures, focusing on the following three techniques: direct suture (DS); VY advancement flap (VYF); and Limberg flap (LF). (2) Methods: A retrospective observational study was conducted from March 2015 to February 2023, and the inclusion criteria were newborns who underwent lumbosacral MMC within 24 h of birth.

Diagnosis and Treatment of Tethered Spinal Cord: A Systematic Review.

Context: Tethered cord syndrome is associated with motor and sensory deficits.

Objective: Our objective was to summarize evidence regarding the diagnosis, prophylactic surgery, symptomatic treatment, and repeat surgery of tethered spinal cord in a systematic review (CRD42023461296).

Data Sources And Study Selection: We searched 13 databases, reference-mined reviews, and contacted authors to identify diagnostic accuracy studies and treatment studies published until March 2024.