Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A ( CRPPA) mutation in different clinical manifestations. Case description: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). Conclusions: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.

In this study, phosphorus-based additives (ammonium polyphosphate (APP), aluminum hypophosphite (AHP), and aluminum diethyl phosphinate (AlPi)) were used to improve the flame retardant properties of chicken feather (CF) reinforced thermoplastic polyurethane (TPU) composites. The additives were used in three concentrations of 5, 10, and 20 wt%. The fire-retardant properties of the composites were investigated by using limiting oxygen index (LOI), vertical burning test (UL 94 V), thermogravimetric analysis (TGA), and mass loss calorimeter test (MLC). According to the test results, the additives exerted flame retardant performance in the descending order of APP, AHP and AlPi. All additives showed flame retardant action both in the condensed and gas phases. However, the better fire retardant performances of APP and AHP with respect AlPi stemed from enhanced char formation.

The aim of the study was to enhance the flame-retardant properties of chicken feather (CF) reinforced thermoplastic polyurethane (TPU) composites by incorporating three different phosphorus-based flame retardants, namely aluminum hypophosphite (AHP), ammonium polyphosphate (APP), and aluminum diethyl phosphinate (AlPi), at concentrations of 5, 10, and 20 wt%. The effectiveness of the additives was evaluated through various tests, including limiting oxygen index (LOI), vertical burning test (UL 94 V), thermogravimetric analysis (TGA), and mass loss calorimeter test (MLC). The results indicated that all three additives exhibited flame retardant properties in both the condensed and gas phases, but APP and AHP performed better than AlPi due to their enhanced char formation capabilities. The flame retardant effectiveness of the additives decreased in the order of APP > AHP > AlPi.

Objective: Health workers may be exposed to some occupational risks due to the nature of their work and one of them is infectious diseases. One of the ways to prevent infectious diseases is vaccination and this study was carried out to evaluate the vaccination status and perspectives of emergency medicine physicians. Materials and Methods: This descriptive and cross-sectional study was conducted on 311 emergency medicine physicians working in emergency departments. Results: Of the participants, 22.5% had seasonal flu vaccine, 83.0% had at least one dose of tetanus-diphtheria vaccine, 90.7% had at least one dose of hepatitis b vaccine, and 63.0% had at least one dose of the measles-rubella-mumps vaccine and 43.1% had at least one dose of chickenpox vaccine. 16.5% of those working as research assistants, 22.6% of specialists, and 40.0% of faculty members had the seasonal flu vaccine (p<0.05). Among those who had full dose tetanus-diphtheria, hepatitis b, measles-rubella-mumps, and chickenpox vaccines, those who preferred to gain personal immunity against diseases were between 2.90 and 2.96 times higher than those who preferred to gain immunity by passing the disease (p<0.05). Conclusion: Emergency medicine physicians have low rates of vaccinations recommended for healthcare workers. Knowing the vaccination rates of emergency medicine physicians can contribute to the planning of vaccination services for all healthcare professionals, especially physicians.

Laryngeal atresia is generally a fatal congenital anomaly with an incidence of 1: 50,000 births. This congenital anomaly is a condition of multifactorial inheritance, in which the fetus has a dilated trachea, enlarged echogenic lungs, an inverted or flattened diaphragm, fetal hydrops, and ascites. Diagnosis is usually made when there is failure to perform endotracheal intubation in a neonate with severe respiratory distress and absence of audible cry. Here, we present a very rare case of a newborn with laryngeal atresia who had respiratory distress and was sustained for the first few minutes of life using partial ventilation via a persistent pharyngotracheal duct. We would like to draw the attention of all physicians to this issue by reporting a rare fatal case of a newborn with a congenital presentation.