Explore the vast range of titles available.

Gap closure is a common morphogenetic process. In mammals, failure to close the embryonic hindbrain neuropore (HNP) gap causes fatal anencephaly. We observed that surface ectoderm cells surrounding the mouse HNP assemble high-tension actomyosin purse strings at their leading edge and establish the initial contacts across the embryonic midline. Fibronectin and laminin are present, and tensin 1 accumulates in focal adhesion-like puncta at this leading edge. The HNP gap closes asymmetrically, faster from its rostral than caudal end, while maintaining an elongated aspect ratio. Cell-based physical modeling identifies two closure mechanisms sufficient to account for tissue-level HNP closure dynamics: purse-string contraction and directional cell motion implemented through active crawling. Combining both closure mechanisms hastens gap closure and produces a constant rate of gap shortening. Purse-string contraction reduces, whereas crawling increases gap aspect ratio, and their combination maintains it. Closure rate asymmetry can be explained by asymmetric embryo tissue geometry, namely a narrower rostral gap apex, whereas biomechanical tension inferred from laser ablation is equivalent at the gaps’ rostral and caudal closure points. At the cellular level, the physical model predicts rear-rangements of cells at the HNP rostral and caudal extremes as the gap shortens. These behaviors are reproducibly live imaged in mouse embryos. Thus, mammalian embryos coordinate cellular-and tissue-level mechanics to achieve this critical gap closure event.

IntroductionNeural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania–exencephaly–anencephaly sequence (AEAS). In AEAS, the cerebral tissue is not protected and is gradually destroyed due to exposure to the harmful effect of amniotic fluid and mechanical injuries. These lead to exencephaly and then into anencephaly. In contrast to primary anencephaly (NTDs), this type of anencephaly authors suggests calling secondary anencephaly.ObjectiveAnalysis of the known prenatal ultrasonography (US) signs associated with AEAS. Simultaneously, the authors propose a new sign in the differentiation of acrania from exencephaly and anencephaly, called the “beret” sign.MethodsIt is a two-centre retrospective observational study. As part of the study, 4060 US scans were analyzed.ResultsIn 10 cases, the absence of calvarium was diagnosed, allowing recognition of either AEAS stages or primary anencephaly. In 5 cases, cerebral structures were enclosed by an inertial rippled thin membrane, with a smooth outer contour. Between the described membrane and the brain structures, a thin anechoic space corresponding to cerebrospinal fluid was observed. This sign was defined as the “beret” sign. In these cases, acrania was diagnosed. In three cases calvarium was missing. The brain structures had an irregular appearance, did not wave and remained motionless. The outer contour was unequal as if divided into lobes. Amniotic fluid was anechoic. Exencephaly was diagnosed in these cases. In two cases calvarium, brain structures, and meninges were missing. The “frog eyes” sign and slightly echogenic amniotic fluid were visible. In this case, anencephaly was diagnosed.ConclusionsThe “beret” sign seems to be a promising tool in the diagnosis of acrania. Furthermore, echogenicity of amniotic fluid could be useful during differentiation between primary and secondary anencephaly.

Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations in planar cell polarity (PCP) genes are believed to cause a variety of NTDs in both mice and humans. SCRIB is a PCP-associated gene. Mice that are homozygous for the Scrib p.I285K and circletail (Crc) mutations, present with the most severe form of NTDs, namely craniorachischisis. A recent study reported that mutations in SCRIB were associated with craniorachischisis in humans, but whether SCRIB mutations contribute to increased spina bifida risk is still unknown. We sequenced the SCRIB gene in 192 infants with spina bifida and 190 healthy controls. Among the spina bifida patients, we identified five novel missense mutations that were predicted-to-be-deleterious by the PolyPhen software. Of these five mutations, three of them (p.P1043L, p.P1332L, p.L1520R) significantly affected the subcellular localization of SCRIB. In addition, we demonstrated that the craniorachischisis mouse line-90 mutation I285K, also affected SCRIB subcellular localization. In contrast, only one novel missense mutation (p.A1257T) was detected in control samples, and it was predicted to be benign. This study demonstrated that rare deleterious mutations of SCRIB may contribute to the multifactorial risk for human spina bifida.

ObjectivesTo determine the baseline trends in the total birth prevalence of neural tube defects (NTDs) in England (2000–2019) to enable the impact of folic acid fortification of non-wholemeal wheat flour to be monitored.DesignPopulation-based, observational study using congenital anomaly (CA) registration data for England curated by the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).SettingRegions of England with active registration in the time period.ParticipantsBabies that were liveborn or stillborn and pregnancies that resulted in a termination of pregnancy or a late miscarriage (20–23 weeks’ gestation) with an NTD.Main outcome measuresTotal birth prevalence of anencephaly, spina bifida and all NTDs in England. Poisson regression analysis was used to evaluate time trends with regional register as a random effect. The progress of national registration across England was assessed.ResultsThere were 4541 NTD pregnancies out of 3 637 842 births in England; 1982 anencephaly and 2127 spina bifida. NTD prevalence was 12.5 (95% CI 12.1 to 12.9) per 10 000 total births. NTD prevalence per 10 000 total births was significantly higher in 2015–2019 (13.6, 95% CI 12.9 to 14.4) compared with 2010–2014 (12.1, 95% CI 11.7 to 12.5). An increasing trend in NTDs overall was detected (incidence rate ratio (IRR) 1.01, 1.00 to 1.02), although further analysis determined this effect was confined to 2015–2019 (compared against 2000–2004, IRR 1.14, 1.04 to 1.24). The birth prevalence of anencephaly reflected this pattern. The prevalence of spina bifida remained relatively stable over time.ConclusionsBaseline NTD prevalence for England has been established. National and standardised CA registration is in place, facilitating the systematic and consistent monitoring of pre-fortification and post-fortification NTD trends and evaluating the impact of fortification on NTD prevalence.

Background Anencephaly is a deadly type of cephalic axial skeletal and neural disorder with a multifactorial aetiology that causes the failure of the rostral neuropore closure, compromising the formation of the neural folds, basicranium, and neurocranium. In cetaceans, there is only one report of this fetal abnormality, dated in late 1991, in a male stillborn Indo-Pacific bottlenose dolphin ( Tursiops aduncus ) and diagnosed using transabdominal ultrasonography on its mother that was kept under human care in the Ocean Park Corporation. After birth, physical and general radiographic examination showed kyphosis of the cervical and lordosis of the thoracic vertebrae, narrowed triangular skull base, thickening of an undersized maxilla, cranial vault defect including the absence of the bones constituting the roof of the cranial cavity. The stillborn was then fixed in formalin for future research. Case presentation The preserved dolphin specimen was further investigated using different advanced radiological and imaging techniques postmortem, including 3D surface scanning (3DSS), computed tomography (CT), and magnetic resonance imaging (MRI). The scans were then used to conduct virtual necropsy (virtopsy) for detailed gross morphological analyses of the malformation. CT confirmed the total absence of the interparietal bone but also revealed the presence of greatly reduced other bones. The reduction of the parietal and occipital bone resulted in a large cranial vault defect instead of the interfrontal and fronto-occipital sutures. MRI showed the remaining of the optic and vestibulocochlear nerve which suggests the condition of human meroanencephaly. Conclusions In summary, this study reported the importance of the use of advanced radiological and imaging tools in rare and complex malformations such as anencephaly in a stillborn cetacean. Although the malformation was diagnosed using prenatal transabdominal ultrasonography, it was later confirmed revealing new insights using virtopsy. Although ultrasound is an established method to monitor pregnancy, fetal growth and wellbeing, virtopsy provided a more accurate characterization of the bone and neural malformations postmortem. This example highlighted the importance of using virtopsy as a postmortem technique to understand the nature and characteristics of pathologies in cetaceans.

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. This article provides an overview of NTD birth prevalence in SA, pre- and post-fortification, and evaluates current folic acid fortification regulations. Fortification effectiveness data in SA were reviewed using published studies and national reports on NTD birth prevalence pre- and post-folic acid fortification. Current folic acid fortification regulations in SA were evaluated by experts. Regulations were assessed using national health guidelines, legislation and regulations. NTD birth prevalence data were sourced from the published literature. None. Significant reductions in the birth prevalence of spina bifida and anencephaly and improved maternal folate levels have been achieved following the introduction of folic acid fortification in SA. However, there is poor overall regulatory compliance in some instances and a gap in current regulations that excludes the fortification of cake flour in SA. While the SA NTD birth prevalence has decreased by 30% post-fortification, the regulatory exclusion of cake flour fortification is a significant and growing issue. Proposed 2016 regulatory amendments to address this gap urgently require finalisation and enactment by government to prevent negating benefits achieved to date and to ensure continued improvement. Fortification monitoring requires strengthening to ensure widespread compliance with policies, particularly in underserved areas.

ABSTRACT Background: There are no reports comparing penile length with foot-length between normal and anencephalic fetuses. Aim: To compare the penile length with foot-length in fetuses with anencephaly and without anomalies. Materiais and methods: We studied 32 fetuses without anomalies, aged 11-22 weeks post-conception (WPC) and 13 anencephalic fetuses, aged 13-19 WPC. We evaluated penile free portion length and width, penile root length and width and total penile length with a digital caliper and the aid of computer programs (Image Pro and Image J). The Shapiro-Wilk test was employed to ascertain the normality of the data and to compare quantitative data between normal vs. anencephalic fetuses. Simple linear correlations were calculated for penile measurements according to foot-length. Outcomes: This is a morphometric study of human fetuses using a standardized technique to measure the penis in human fetuses. Results: Total penile length varied from 4.69 to 29.77mm (mean =15.67) in normal fetuses and from 7.49 to 18.46mm (mean=11.48) in anencephalic fetuses without significant differences. The linear regression analysis indicated that the total penile length has a strong and significant correlation with the foot length in the control group (r2=0.8505, p<0.001) and a moderate correlation of total penile length and foot length in the anencephalic group (r2=0.6813; p=0.0032) and the penile body and root width increased significantly and positively with fetal foot length in normal and anencephalic fetuses. Clinical Implications: This study may suggest a correlation between foot size and penis size in human fetuses during the 2nd gestational trimester of development. Strengths & Limitations: Sample size was small; however, anencephalic fetuses are rare, so observations of a small sample are still relevant. Conclusions: Penile length increased significantly and positively when correlated with foot length during the 2nd trimester of gestational development. We can suggest that foot size can be considered an indicator of penis size in human fetuses.

Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in one per thousand births and is the major cause of fetal loss and disabilities in newborns. The objective of this review is to determine the birth prevalence of anencephaly in Africa. We identified relevant studies via a search of databases like PubMed Central, PubMed/Medline, Science Direct, Joanna Briggs Institute, African Journals Online, Embase, Google Scholar, Web of Science, and Cochrane Library. After examining the heterogeneity of studies via the Cochran Q test and I 2 test (and Forest plot for visual inspection), the prevalence of anencephaly was estimated using the random-effect meta-analysis model. Consequently, we carried out subgroup, sensitivity, meta-regression, trim and fill, time-trend, and meta-cumulative analyses. In this systematic review and meta-analysis, the twenty-four studies reported a total of 4,963,266 births. The pooled birth prevalence of anencephaly in Africa was 0.14% (95% CI: 0.12, 0.15%). Higher burden of anencephaly was detected in Ethiopia (0.37%, CI: 0.15, 0.58%), Algeria (0.24%, CI: 0.24, 0.25%), and Eritrea (0.19%, CI: 0.19, 0.19%). The higher pooled prevalence of anencephaly was observed in the studies that included both live births and stillbirths (0.16%) and in studies done after the year 2010 (0.25%) whereas, the lower burden was detected among countries that had a mandatory folic acid fortification (0.05%). High birth prevalence of anencephaly was detected in Africa. Strong prevention and control measures should be the priority because of an increment in the magnitude of anencephaly. Helping in prevention programs, which should be the ultimate contribution of this study to the field.

Background: Anemia is a major public health issue, particularly among women of reproductive age (WRA) in low- and middle-income countries (LMICs). Pakistan’s National Nutrition Survey (NNS) 2011 showed a high prevalence of vitamin B[sub.12] (B[sub.12]) and folate deficiency among WRA, necessitating further investigation in subsequent surveys. Methods: Blood samples from 31,828 WRA (15–49 years old) were collected using a stratified multi-stage sampling technique in NNS-2018. We conducted a secondary analysis using population-weighted logistic regression to assess the association of potential factors with B[sub.12] and folate deficiency. B[sub.12] (n = 4442) and folate (n = 12,662) samples were measured using an electrochemiluminescence immunoassay and a Centers for Disease Control and Prevention, USA (CDC)-approved microbiologic assay, respectively. Results: Folate deficiency was present in 44.7% WRA, and 20.2% had B[sub.12] deficiency. Provincial distribution was associated with folate deficiency, i.e., Sindh (OR = 1.140, 95% CI 1.018, 1.285), Baluchistan (OR = 1.237, 95% CI 1.052, 1.453), and Islamabad (OR = 1.524, 95% CI 1.109, 2.092), while B[sub.12] deficiency was prevalent in Islamabad (OR = 1.673, 95% CI 1.122, 2.497), Gilgit Baltistan (OR = 2.472, 95% CI 1.197, 5.106), and newly merged districts of KPK (OR = 1.584, 95% CI 0.977, 2.570). Rural residence (OR = 1.407, 95% CI 1.125, 1.760), obesity (OR = 1.649, 95% CI 1.282, 2.122), and overweight (OR = 1.560, 95% CI 1.262, 1.928) were associated with B[sub.12] deficiency. Conclusions: Our results show regional and demographic differences in the prevalence of folate and B[sub.12] deficiencies among WRA. This underscores the need for targeted nutritional interventions and further longitudinal studies to identify potentially associated factors.