Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) results from mutations in the phosphatidylinositol glycan biosynthesis class T (PIGT) gene leading to defects in glycosylphosphatidylinositol transamidase complex (GPI-TA) synthesis. Glycosylphosphatidylinositol serves as an anchor to more than 150 mammalian proteins for attachment on cell surfaces, enabling specific functional properties. Mutations in the PIGT gene result in disruption of this extremely important post-translational protein modification, yielding dysfunctional proteins leading to MCAHS3. An exhaustive literature search was conducted across various electronic databases to reveal only 41 reported cases of MCAHS3 worldwide, emphasizing the rarity of this condition. Multiple congenital anomalies-hypotonia-seizures syndrome 3 has been reported as secondary to 18 different known PIGT variants to date, manifesting as a varying spectrum of craniofacial dysmorphism, developmental delay with epilepsy, cardiac and renal malformations, and unique features in biochemical testing and neuroimaging. This review aims to highlight the constellation of clinical symptoms, diagnostic modalities, and management challenges associated with MCAHS3 cases. It would help determine optimal diagnostic and treatment strategies for newly identified cases and facilitate new research on this rare condition.

Delftia acidovorans sepsis in a neonate with nosocomial pneumonia.

A term neonate weighing 2900 g was referred in the first week of life with complaints of abdominal distension since birth. New onset respiratory distress was noted 36 hours prior to referral. Baby required non-invasive respiratory support and intravenous antibiotics as chest X-ray was suggestive of pneumonia. Ultrasound abdomen confirmed low ano-rectal malformation treated with cut-back anoplasty. Blood culture on admission grew a rare organism Delftia acidovorans The antibiotics were tailored as per the sensitivity pattern and continued for a duration of 14 days. Respiratory distress gradually resolved by day 10 of admission. The baby developed pneumonia after 36 hours of stay in the referring hospital; most probably indicating a hospital acquired source of this pathogen. To the best of our knowledge, this is the second reported neonatal case of D. acidovorans sepsis.

Comparison of Hemodynamic Changes in Patients Undergoing Laparoscopic Cholecystectomy using rocuronium and vecuronium for Intubation and Maintenance under General Anesthesia.

Context: The context of the study is to compare and find better muscle relaxant between rocuronium and vecuronium for intubation and maintenance under general anesthesia in patients undergoing laparoscopic cholecystectomy. Aims: The aim of the study is to measure intubating condition, hemodynamic changes during intubation and also during maintenance of general anesthesia and to record complications, if any. Settings and Design: A prospective clinical study conducted in the Department of Anesthesiology in tertiary care center. Materials and Methods: A total of 100 patients of the American Society of Anesthesiologists Classes Grade I and II were planned for laparoscopic cholecystectomy were divided into two groups of 50 each. The subjects in the control and study group were put under anesthesia using injection propofol 2.0 mg.kg-1 along with injection vecuronium 0.10 mg.kg-1 and injection propofol 2.0 mg.kg-1 along with injection rocuronium 0.60 mg.kg-1, respectively. Hemodynamic monitoring and oxygen saturation (SPO2) were recorded at various intervals. Statistical Analysis Used: All the collected data were imported into Microsoft Excel, and the statistical analysis was done by using SPSS 25.0 version. Results: The mean heart rate before and after carboperitoneum at different time intervals and before and after extubation was significantly lower in vecuronium group. The mean systolic blood pressure and mean arterial pressure at 1 and 5 minutes after extubation were significantly more among vecuronium group. Conclusions: Rocuronium is reasonably cardiostable, produces excellent intubation conditions, has a shorter duration of action, and shows minimal cumulative effect.