Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. RESULTS: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. CONCLUSION: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.

Hereditary Ichthyosis With Gastrointestinal Manifestations: A Case Report.

Gut inflammation and defect in the gut mucosal barrier appear to have a correlation with skin diseases and vice versa. The coexistence of hereditary ichthyosis with active colitis has never been reported. We present a 17-year-old female with ichthyosis since birth, abdomen pain for 3 months, with acute colitis. After the initial diagnosis, the patient was started on antituberculous therapy (ATT), steroids, and mesalamine. She followed up with us for 1 year where there was resolution of symptoms. Steroids were stopped after 16 weeks, mesalamine was stopped after 20 weeks in view of low absolute neutrophil counts and ATT was stopped after 1 year. She was asymptomatic post 18 months of stopping ATT.

Heart failure in patients with metabolic syndrome X.

Metabolic syndrome X has been known to be a risk factor for the development of cardiovascular dysfunction. Insulin resistance, diabetes mellitus and serum lipid abnormalities, which are all seen in metabolic syndrome X, have been found to negatively impact heart function, leading to heart failure in particular. Heart failure is a condition resulting when the heart is unable to perform its function of providing sufficient blood flow to meet the body's requirements. The treatment of heart failure in metabolic syndrome X varies based on the various components of metabolic syndrome X, which include obesity, hyperglycemia, hypertension and dyslipidemia. Obesity is regarded as one of the derangements seen in patients with metabolic syndrome X. It is a significant risk factor in the development of cardiovascular disease, which may eventually lead to heart failure. However, the obesity paradox suggests that obesity provides a higher chance of survival in patients with metabolic syndrome and heart failure. This review article focuses on the pathophysiology of heart failure in patients who already have metabolic syndrome X, as well as the therapeutic management complexity of the two conditions taking into consideration the protective role provided by obesity.

Fetal Wellbeing Monitoring: A Review Article.

While assessing maternal health is relatively easy, assessing fetal well-being has always been tricky. This has led to tremendous technological development in fetal well-being assessment, thus bridging the gap between biotechnology and antenatal medicine. It is broadly divided into early pregnancy, late pregnancy, and during labour assessment. While the early assessment involves genetic check-ups and malformations, the late pregnancy check-ups aim at delivering a healthy fetus at term by normal vaginal delivery. The early tests can be invasive or non-invasive. Non-invasive include cell-free fetal DNA assessment and fetal cell-based assessment. Invasive tests include amniocentesis and chorionic villous sampling. These are followed by chromosomal microarray and next-generation sequencing. Under this procedure, exome sequencing is done, which is either clinical or whole. Sequencing of the whole genome can also be done. A recent advancement is pre-implantation genetic testing. These are mainly useful in identifying monogenic disorders for which the locus causing disease is identified beyond any doubt. In late pregnancy, the most commonly used test is biophysical. It works on the principle that an increase in the fetal heart rate occurs in conjugation with fetal movements. The next widely employed technology is Doppler, which is used to know fetal heart rates, valve timing intervals, and umbilical artery waveforms. Cardiotocography is also widely used both during pregnancy and during labour. It measures the fetal heart rate while correlating it with uterine contractions. Wireless fetal and maternal heart monitoring and telemonitoring are recent upcoming fields.

Writing in the granular gel medium.

Gels made from soft microscale particles smoothly transition between the fluid and solid states, making them an ideal medium in which to create macroscopic structures with microscopic precision. While tracing out spatial paths with an injection tip, the granular gel fluidizes at the point of injection and then rapidly solidifies, trapping injected material in place. This physical approach to creating three-dimensional (3D) structures negates the effects of surface tension, gravity, and particle diffusion, allowing a limitless breadth of materials to be written. With this method, we used silicones, hydrogels, colloids, and living cells to create complex large aspect ratio 3D objects, thin closed shells, and hierarchically branched tubular networks. We crosslinked polymeric materials and removed them from the granular gel, whereas uncrosslinked particulate systems were left supported within the medium for long times. This approach can be immediately used in diverse areas, contributing to tissue engineering, flexible electronics, particle engineering, smart materials, and encapsulation technologies.