Bai Jerbai Wadia Hospital for Children

Primary immune regulatory disorders (PIRDs) are a group of conditions characterised by a loss of immune tolerance. Two such disorders, CHAI and LATAIE, share common molecular mechanisms, leading to significant clinical overlap. Here, we report demographic, clinical, immunological, and molecular findings in 29 patients referred from different parts of India with a diagnosis of CHAI or LATAIE. LATAIE patients demonstrated a higher prevalence of consanguinity, while CHAI patients more often had a positive family history. Both disorders presented with overlapping clinical features, predominately autoimmune cytopenias, benign lymphoproliferation, and inflammatory bowel disease (IBD). However, the incidence of recurrent infections, otitis media, bronchiectasis, and hypogammaglobulinemia was higher among LATAIE patients as compared to CHAI. Flow cytometry analysis revealed significant differences in T cell subsets, particularly in percentages of CD4+ naïve cells and T regulatory cells (Treg), between the two disorders. B cell abnormalities were also observed. Molecular diagnosis was achieved using targeted or clinical exome sequencing, and specific protein expression was employed to validate the novel variants.

Background: Cyanotic congenital heart disease (CCHD), like transposition of the great arteries (TGA) and total anomalous pulmonary venous connection (TAPVC), arise from abnormal cardiac development during embryogenesis. While genetic and environmental factors are well-known, the influence of natural astronomical phenomena, such as the lunar cycle and eclipses, remains unexplored. This study evaluates a possible correlation between these events and the incidence of TGA and TAPVC. Methods: Hospital records from 2020–2022 were reviewed to identify cases of TGA and TAPVC. The estimated conception period was calculated based on gestational age at birth. This period was then compared with the dates of natural astronomical events, like new moon, full moon, and eclipse (solar and lunar). The frequency of cases conceived during these events was analyzed for potential associations. Results: Amongst 29 cases of TGA, 10 (34.4%) were conceived during an astronomical event, with 7 (24.1%) around the new moon period. Of the 49 TAPVC cases, 19 (38.7%) coincided with similar events, including 17 (34.7%) around the new moon period. Conclusions: There is a positive correlation in the incidence of TGA and TAPVC in the offspring if conceived during the period of new moon. While preliminary, this warrants further prospective studies to explore astronomical influences on congenital heart disease.

Diamond-Blackfan anaemia (DBA) is a rare inherited disorder marked by early-onset macrocytic anaemia and erythroid hypoplasia, resulting from mutations in ribosomal protein genes. Despite growing genetic insights, data on functional validation remain limited in India; here we report a novel RPS10 mutation with functional validation and provide genotype-phenotype correlation by integrating our findings with all previously reported RPS10 variants. A clinically suspected Diamond-Blackfan anaemia (DBA) case was evaluated through haematological profiling, bone marrow examination, and erythrocyte adenosine deaminase (eADA) activity measurement. Whole exome sequencing (WES) was followed by Sanger sequencing to identify and validate a novel pathogenic variant. Gene expression of ribosomal and regulatory genes was analysed by quantitative RT-PCR, and rRNA processing analysis was carried out to assess functional impact. The proband presented with severe macrocytic anaemia, reticulocytopenia, and erythroid hypoplasia consistent with Diamond-Blackfan anaemia (DBA). Whole exome sequencing identified a novel heterozygous nonsense variant in RPS10 (c.206G > A; p.Trp69Ter), and Sanger sequencing confirmed the variant as de novo. Gene expression analysis revealed significant upregulation of TP53 and downregulation of RPS10 and GATA1, indicating ribosomal dysfunction and activation of the p53 pathway. Additionally, the rRNA processing defect validated the pathogenicity of the novel RPS10 variant. This study identifies a novel de novo nonsense variant in RPS10 associated with Diamond-Blackfan anaemia, with supporting functional evidence of haploinsufficiency and p53 pathway activation. These findings expand the mutational spectrum of RPS10 and underscore the diagnostic value of integrating genomic and functional analyses in rare haematological disorders, while also contributing to ongoing efforts to delineate genotype-phenotype correlations in DBA.

Engineering nanostructured hybrid metal oxides via controlled ion preinsertion offers a promising strategy for enhancing interface properties, ion diffusion pathways, and structural integrity in energy storage materials. In this study, we report the synthesis of interface-engineered nickel-ion preinserted vanadium oxide (Ni0.22V2O5) nanobelts using a facile and cost-effective ultrasonic-assisted chemical route. This approach facilitates nickel incorporation within the V2O5 matrix, resulting in expanded interlayer spacing and a layered monoclinic structure that promotes synergistic redox activity from both V and Ni elements. The nanobelt morphology further enhances electroactive surface area and ion diffusion pathways. The prepared nanobelts demonstrate exceptional electrochemical performance, achieving a specific capacitance of 913 F g–1 at 0.5 A g–1, along with impressive cycling durability, retaining 90% capacitance after 10,000 cycles. Additionally, the fabricated asymmetric supercapacitor device delivers a optimal energy density of 45 Wh kg–1 and power density of 4876 W kg–1, as validated through light-emitting diode (LED) lighting demonstrations. This work introduces a scalable synthesis platform for next-generation supercapacitors through transition metal ion preinsertion and interface modulation.

Introduction:Desmoid fibromatosis (DF) is a rare, fibrous neoplasm arising from the musculoaponeurotic structures. It is also named aggressive fibromatosis owing to its rapid progression in spite of the nature. In this case report we want to highlight the unusual site of presentation, the age group, the surgical challenges, behavior of the tumor, and the various treatment methods. Owing to the rarity of diagnosis and unusual sites in our cases, they can be missed which eventually causes significant morbidity.Case Report:We present two cases of gradually progressing soft tissue tumors posing significant deformity with functional restrictions, at unusual sites where diagnosis was delayed causing difficulty and loss of function. A 7-year-old female child presented with a history of swelling over the right arm and restriction of movements at the right elbow and shoulder joint approximately for the past 2 years or more. She had a previous history of incision and drainage at jucntion, and middle third arm around 3 years ago, following which a swelling and restriction of movements steadily increased. On presentation to us, higher Imaging revealed a large soft tissue mass involving the triceps, but not infiltrating the bone. Case 2, an 8-month-old child presented with a slow-growing tumor of the right neck causing a severe torticollis deformity. Parents were advised physiotherapy and also had a steroid injection intramuscularly elsewhere, which showed no improvement. On examination, a large, firm swelling along the entire length of the sternocleiodomastoid muscle was causing severe restriction of movements of the neck. An open biopsy done proved both to be a DF which can be locally aggressive if not treated in time. Surgical resection was done for functional improvement. This is the youngest age group reported ever in literature .Conclusion:A simple, safe, and clear surgical resection alone can bring about restoration of functional limitations and can have a disease-free survival in not very aggressive DF tumors provided close monitoring is guaranteed for check of recurrence.