Giant prolactinoma with progressive cranial settling and central herniation: a case report.

Background: Giant prolactinoma (size > 4 cm) is a rare condition and accounts for less than 1% of pituitary adenomas. In even rarer cases, these lesions may involve craniocervical structures requiring surgical intervention. The present case is the largest reported giant prolactinoma (99 × 72 × 57 mm).

Double encephalocele in a four-year-old girl: A case report with literature review.

Encephalocele is a congenital neural tube defect (NTD). The pathophysiology of the NTDs is exceedingly complex. Numerous explanations have been proposed to explain it.

Anorectal manometry and urodynamics in children with spina bifida: can we predict the colonic dysmotility from bladder dysfunction?

Introduction: Spina bifida is a condition that impacts the development of the neural tube leading to urological and gastrointestinal symptoms. Both systems are influenced together due to their shared innervation and embryological origin. Despite its impact on health and well-being there has been limited research on the relationship between manometry results and urodynamic tests, in this patient population.

Evaluating toxicity and level of DNA damage in human fetal lung cells upon exposure to 5-methyltetrahydrofolate (bioactive folate).

Folic acid (FA) supplementation is widely regarded as a key nutritional intervention during pregnancy due to its protective effect against neural tube defects. Recent research has reported FA supplementation outcomes on offspring's health, with increased incidences of allergy/respiratory problems. This study evaluates if increased levels of 5-methyltetrahydrofolate (5-MTHF) are associated with DNA modification, leading to disruption of cell proliferation in fetal lung cells and increasing susceptibility to asthma.

The incorporation of MALDI mass spectrometry imaging in studies to identify markers of toxicity following opioid exposures in mouse fetuses.

Introduction: In 2015, the FDA released a Drug Safety Communication regarding a possible link between opioid exposure during early pregnancy and an increased risk of fetal neural tube defects (NTDs). At the time, the indications for opioid use during pregnancy were not changed due to incomplete maternal toxicity data and limitations in human and animal studies. To assess these knowledge gaps, largescale animal studies are ongoing; however, state-of-the-art technologies have emerged as promising tools to assess otherwise non-standard endpoints.

Quantification of multi-pathway metabolites related to folate metabolism and application in natural population with MTHFR C677T polymorphism.

Folate, serving as a crucial micronutrient, plays an important role in promoting human growth and supporting transformations to a variety of metabolic pathways including one-carbon, pyrimidine, purine, and homocysteine metabolism. The 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme is pivotal in the folate metabolic pathway. Polymorphism in the MTHFR gene, especially C677T, was associated with decreased enzyme activity and disturbance of folate metabolism, which is linked to various diseases including birth defects in newborns and neural tube abnormalities.

Altered placental phenotype and increased risk of placental pathology in fetal spina bifida: A matched case-control study.

Introduction: Spina bifida (SB) remains one of the most common congenital anomalies and associates with significant comorbidities in the fetus, which may, in part, be driven by placental maldevelopment. We hypothesised that placental pathologies would be more prevalent in fetuses with SB compared to fetuses without congenital anomalies.

Methods: Placental pathology and transcriptome were evaluated for fetuses with isolated open SB born preterm (cases; n = 12) and control fetuses without congenital anomalies (n = 22) born at full term (FT) or preterm (PT).

The Critical Role of YAP/BMP/ID1 Axis on Simulated Microgravity-Induced Neural Tube Defects in Human Brain Organoids.

Integrated biochemical and biophysical signals regulate embryonic development. Correct neural tube formation is critical for the development of central nervous system. However, the role of microgravity in neurodevelopment and its underlying molecular mechanisms remain unclear.

Assessment of Women's Discretionary Salt Intake and Household Salt Utilization in Preparation for a Salt Fortification Trial in Oromia Region, Ethiopia.

There is a high incidence of neural tube defects (NTDs) in Ethiopia and folate insufficiency, a primary risk factor for NTDs, is common among Ethiopian women of reproductive age (WRA). Folic acid fortification of salt has been proposed as a strategy to control these problems. In preparation for an intervention trial to assess the nutritional effects of folic acid-fortified salt, we measured discretionary salt intakes among nonpregnant WRA using observed weighed food records, and we assessed household salt disappearance rates.

Surgical outcomes of tethered cord syndrome in patients with normal conus medullaris and filum terminale without urologic symptoms.

Purpose: Tethered cord syndrome (TCS) typically presents with urologic symptoms and abnormal imaging findings. However, some patients present with normal conus medullaris level and filum terminale appearance on MRI. This research seeks to assess the intended surgical results in this particular group of TCS patients who do not present with urologic complaints, under the premise that the surgical approach goes a long way in preventing the onset of urologic abnormalities.

Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.

Purpose: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways that govern neurulation. This study aims to delineate genome-wide regulatory signatures underlying SB pathophysiology.

Role of Dolutegravir/Lamivudine in the Management of Pregnant People Living with HIV-1: A Narrative Review.

Lowering viral load during pregnancy is regarded as the most important method of reducing human immunodeficiency virus 1 (HIV-1) vertical transmission risk, and minimizing fetal exposure to drugs is a guiding principle during pregnancy. Dolutegravir/lamivudine (DTG/3TC) has demonstrated high efficacy, a high barrier to resistance, and a good safety profile in non-pregnant individuals; however, DTG/3TC is not recommended by perinatal HIV treatment guidelines for initial therapy in pregnant people living with HIV-1 because of limited data on use of the 2-drug regimen during pregnancy. Efficacy and pharmacokinetic data from pregnant individuals using DTG and/or 3TC are reviewed and used to extrapolate anticipated DTG/3TC efficacy in pregnancy.

Conjoined twin at abdomen: twin A anencephaly and face presentation with twin B cephalic presentation: a case report and review of the literature.

Objectives: Conjoined twins are described as having been physically fused during pregnancy and delivery. They share some vital organs, such as the heart, lungs, liver, abdomen, etc. The article aims to present a unique discussion on conjoined twins at the abdomen, with twin A with anencephaly and face presentation and twin B with cephalic presentation.

Categorization of early embryonic malformations in broilers by a new classification method combining light microscopy and high-resolution Episcopic Microscopy.

Hatchability rates in broilers pose a significant challenge in the poultry industry. Despite advancements in breeding and incubation technology, hatch rates remain suboptimal due to factors like genetics, egg management, environmental stress, nutrition, and breeder age. Understanding the mechanisms behind compromised hatchability is crucial for improving broiler production.

Case Report of an Urgent Determination of Malignant Hyperthermia Status of a 24-Week Pregnant Patient Requiring Intrauterine Fetal Surgery.

Malignant hyperthermia (MH) is a potentially fatal disorder triggered by volatile anesthetics or succinylcholine, inducing a hypermetabolic crisis in susceptible patients. The caffeine-halothane contracture test (CHCT) remains a gold standard for MH detection. The authors describe a pregnant patient with a history of exertional rhabdomyolysis, who required urgent MH screening for administration of MH-triggering anesthetics.

A rare case of split notochord syndrome with neurenteric cyst: clinical challenges, surgical approach, and literature review.

Split notochord syndrome (SNS) is a rare congenital anomaly characterized by incomplete midline notochordal integration during gastrulation, leading to segmental clefts of the spine. This case report describes a female patient with symptomatic cervico-dorsal SNS associated with a neurenteric cyst (NEC), intrathoracic gut duplication, and secondary hydrocephalus. Multistep surgical interventions were performed, including hydrocephalus management, excision of the cyst and gut duplication, and detethering with sectioning of the filum.

Clinical profile of Korean children with spina bifida: a single-center prospective cohort study.

Background: Spina bifida (SB) is a chronic condition requiring lifelong self-management, underscoring the need to establish a dedicated cohort for longitudinal monitoring of health outcomes. The purpose of this study was to describe the development and initial implementation of a single-center prospective cohort study of children with SB and their parents living in South Korea and to describe demographics, clinical outcomes, psychosocial characteristics, and family data for this cohort.

Methods: This cohort was established through expert panel formation, identification of health indicators based on the Life Course Model for Spina Bifida, creation of a cohort database system, and quality control planning.

Intraoperative neuromonitoring and mapping during spinal cord untethering surgery; a single-centre paediatric neurosurgery unit experience.

Purpose: A review of intraoperative neuromonitoring (IONM) and mapping (IONMa) utility during paediatric tethered cord surgery with particular attention to feasibility, measures to prevent injury, and postoperative outcome.

Methods: A retrospective analysis of spinal cord untethering surgery between 2015 and 2022 was carried out. Cohort demographics, IONM and IONMa data, and procedural details were summarised and associations between variables explored.

Artificial intelligence versus clinical judgement: how accurately do generative models reflect CNS guidelines for chiari malformation?

Objective: This study investigated the response and readability of generative artificial intelligence (AI) models to questions and recommendations proposed by the 2023 Congress of Neurological Surgeons (CNS) guidelines for Chiari 1 malformation.

Methods: Thirteen questions were generated from CNS guidelines and asked to Perplexity, ChatGPT 4o, Microsoft Copilot, and Google Gemini. AI answers were divided into two categories, "concordant" and "non-concordant," according to their alignment with current CNS guidelines.

Status of prevention of neural tube defects post-folic acid fortification of cereal grains in South Africa.

Objective: Neural tube defects (NTD) are serious, life-threatening birth defects. Staple food fortification with folic acid (vitamin B) is a proven, effective intervention to reduce NTD birth prevalence. Mandatory food fortification with folic acid was implemented in South Africa (SA) in 2003.

[Endoscopic surgical outcomes of meningoencephalocele and cerebrospinal fluid leaks of frontal sinus: a single medical center retrostpective analysis].

To analyze the efficacy of endoscopic surgery for frontal sinus meningoencephalocele and cerebrospinal fluid (CSF) leaks, and to explore endoscopic surgical strategy. A total of 35 patients with frontal sinus meningoencephalocele and CSF leaks who underwent endoscopic transnasal surgery at Beijing Tongren Hospital, Capital Medical University between May 2007 and December 2023 were enrolled in this retrospective case series, including 29 males and 6 females, with the age of (35.23±15.