Pulsating abdominal mass in a newborn - Pentalogy of Cantrell with left ventricular diverticulum.

Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team.

Effectiveness of different socket dressing materials on the postoperative pain following tooth extraction: a randomized control trial.

We aimed to prospectively evaluate and compare the effectiveness of Alvogyl and Cutanplast as intra-alveolar dressings for managing pain associated with extraction and incidence of dry socket. All patients who underwent maxillary and mandibular teeth extraction and fulfilled our inclusion and exclusion criteria from Feb 2021 to Oct 2021 were included in our study. Patients who were diagnosed with postoperative pain after tooth extraction were randomly allocated to three groups: Group A (Alvogyl), Group B (Cutanplast), and Group C (placebo). Pain relief and healing of the socket were compared between these groups. The collected data were analyzed using the Chi-square test and Z test of proportionality. Alvogyl was superior to the other medication for providing initial pain relief, and the incidence of dry socket was significantly lower than in the Cutanplast and placebo groups (p<0.05). However, wound healing was statistically non-significant among groups A, B, and C (p>0.05). Alvogyl is still the material of choice in terms of pain relief, wound healing, and low incidence of dry socket. Furthermore, no statistically significant difference was detected between the groups in the biographic information, location, and condition of the extracted tooth, presence of a radiologic pathology, or type of extraction procedure. Moreover, whether it is the first extraction or not, Alvogyl and Cutanpast are comparable in postoperative pain management as intra-alveolar dressing materials.

Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.

X-linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized by failure of development and maturation of B lymphocytes. The estimated prevalence worldwide is 1 in 190,000 male births. Recently, genome sequencing has been widely used in difficult to diagnose and familial cases. We report a large Indian family suffering from XLA with five affected individuals. We performed complete blood count, immunoglobulin assay, and lymphocyte subset analysis for all patients and analyzed Btk expression for one patient and his mother. Whole exome sequencing (WES) for four patients, and whole genome sequencing (WGS) for two patients have been performed. Carrier screening was done for 17 family members using Multiplex Ligation-dependent Probe Amplification (MLPA) and haplotype ancestry mapping using fineSTRUCTURE was performed. All patients had hypogammaglobulinemia and low CD19+ B cells. One patient who underwent Btk estimation had low expression and his mother showed a mosaic pattern. We could not identify any single nucleotide variants or small insertion/ deletions from the WES dataset that correlates with the clinical feature of the patient. Structural variant analysis through WGS data identifies a novel large deletion of 5,296 bp at loci chrX:100,624,323-100,629,619 encompassing exons 3-5 of the BTK gene. Family screening revealed seven carriers for the deletion. Two patients had a successful HSCT. Haplotype mapping revealed a South Asian ancestry. WGS led to identification of the accurate genetic mutation which could help in early diagnosis leading to improved outcomes, prevention of permanent organ damage and improved quality of life, as well as enabling genetic counselling and prenatal diagnosis in the family.