Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in .

The cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.

Utility of the AngelMed Guardian System in myocardial bridging: a case report.

Background: Myocardial bridging (MB) is a known congenital anomaly in which a segment of the coronary artery transverses from the epicardium through the myocardium. MB may clinically manifest as recurrent angina, acute coronary syndrome, ventricular dysrhythmia, and even sudden cardiac death. On electrocardiogram (EKG), MB can present with findings consistent with significant ST-segment changes.

Fabrication of 2D Vanadium MXene Polyphenylsulfone Ultrafiltration Membrane for Enhancing the Water Flux and for Effective Separation of Humic Acid and Dyes from Wastewater.

MXene, a new 2D transition metal carbide-based material, is gaining outstanding attention in recent days in the area of separation and purification. In this study, we have successfully synthesized vanadium-based MXene-VCT (where T represents functional groups such as -OH, O, and F) by etching an aluminum layer from VAlC. For the first time, a vanadium-based MXene-VCT -embedded mixed matrix membrane was fabricated and utilized for removal of hazardous dye and humic acid from wastewater.

Perceptions and challenges of online teaching and learning amidst the COVID-19 pandemic in India: a cross-sectional study with dental students and teachers.

Background: Online education has emerged as a crucial tool for imparting knowledge and skills to students in the twenty-first century, especially in developing nations like India, which previously relied heavily on traditional teaching methods.

Methods: This study delved into the perceptions and challenges experienced by students and teachers in the context of online education during the COVID-19 pandemic. Data were collected from a sample of 491 dental students and 132 teachers utilizing a cross-sectional research design and an online-validated survey questionnaire.

Assessment of sealing efficacy, radiopacity, and surface topography of a bioinspired polymer for perforation repair.

Background: Root perforation repair presents a significant challenge in dentistry due to inherent limitations of existing materials. This study explored the potential of a novel polydopamine-based composite as a root repair material by evaluating its sealing efficacy, radiopacity, and surface topography.

Methods: Confocal microscopy assessed sealing ability, comparing the polydopamine-based composite to the gold standard, mineral trioxide aggregate (MTA).

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

Use of POSSUM (Physiologic and Operative Severity Score for the Study of Mortality and Morbidity) and Portsmouth-POSSUM for Surgical Assessment in Patients Undergoing Emergency Abdominal Surgeries.

Introduction: The POSSUM (Physiologic and Operative Severity Score for the Study of Mortality and Morbidity) and Portsmouth-POSSUM (P-POSSUM) models have been popularly recommended as appropriate for predicting postoperative mortality and morbidity in surgical practice. This study aims to evaluate the efficacy and accuracy of both scoring systems for surgical risk assessment in predicting postoperative mortality and morbidity in patients undergoing emergency abdominal surgeries.

Methodology: The study was conducted as a part of a post-doctoral fellowship program.

Efficacy and Cost-Effectiveness of Laparoscopic Transversus Abdominis Plane (TAP) Block in Laparoscopic Cholecystectomy: A Comparison With the Non-TAP Group.

Background: Postoperative pain caused by laparoscopic cholecystectomy can be controlled by different methods. The study aimed to observe the efficacy of laparoscopic transversus abdominis plane (TAP) block in laparoscopic cholecystectomy and to analyze the cost-effectiveness of the procedure in comparison to the non-TAP method.

Methods:  In this double-blinded randomized clinical trial, the subjects who had come for cholecystectomy were randomly divided into two groups (n = 43 in each group).

Knowledge, attitude and practice of dental students and practitioners during the early days of COVID-19 pandemic in India: A cross-sectional study.

Aim: The novel coronavirus disease-2019 (COVID-19) is a major health problem and has affected innumerable people around the world. The current online-based study was conducted to assess the knowledge, attitude and practice (KAP) of dental students and professionals during the early days of lockdown in India from 2 April to 1 May 2020.

Methodology: An online-based cross-sectional study was undertaken through WhatsApp messenger and e-mail groups among dental students and professionals.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over the last 6 years at our centre to identify families with MGVs and MGDs.

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid lactate levels, and brain neuroimaging abnormalities.

Elastosis in Breast Cancer as a Surrogate Marker for Estrogen Receptor Positivity.

Objectives: We sought to describe the occurrence of stromal elastosis in breast carcinoma among Omani female patients using semi-quantitative methods. We also sought to investigate the relationship between stromal elastosis and estrogen receptor (ER), progesterone receptor (PR), HER2/neu receptor tumor grade, and Ki-67 index. Furthermore, we evaluated the diagnostic accuracy of hematoxylin and eosin (H&E) stain method in quantifying elastosis compared to Elastin van Gieson (EVG) stain and if elastosis can be used as prognostic marker for overall survival.

Outcomes After Coronary Orbital Atherectomy at Centers Without On-Site Surgical Backup: Diabetics Versus Non-Diabetics and Impact of Access Site.

Background/purpose: There is limited data available on atherectomy usage in hospitals or centers without on-site surgical backup. The purpose of this retrospective analysis was to gain further knowledge by analyzing the in-hospital and 30-day outcomes of complex PCI patients (including diabetics) treated with coronary orbital atherectomy (OA) at centers without on-site surgical back-up.

Methods/materials: All comers treated with OA at two centers without on-site surgical backup were included.

Association between BMI, vitamin D, and estrogen levels in postmenopausal women using adjuvant letrozole: a prospective study.

Studies have suggested that women with elevated BMI or 25-OH vitamin D levels may derive less benefit from AIs versus tamoxifen. We prospectively investigated whether high BMI or 25-OH vitamin D levels were associated with higher estrogen levels in post-menopausal women receiving standard adjuvant letrozole (2.5 mg/day).

Hepatoid Variant of Yolk Sac Tumor of Both Ovaries with Widespread Intraabdominal and Lung Metastasis: A Case Report.

Hepatoid variant of yolk sac tumor of ovary is an unusual tumor with an aggressive behavior. It is usually observed in young females, presents with abdominal complaints and is associated with raised α-fetoprotein (AFP) levels. It should be differentiated from other hepatoid tumors involving the ovary.

Effect of alumina nano additives into biodiesel-diesel blends on the combustion performance and emission characteristics of a diesel engine with exhaust gas recirculation.

In the present study, the combined effect of alumina nanoparticles into the Calophyllum inophyllum biodiesel blend and exhaust gas recirculation on the combustion, performance, and emission characteristics of a diesel engine was investigated. The alumina (AlO) nanoparticles with the mass fraction of 40 ppm were dispersed into the C. inophyllum biodiesel blend (20% of C.

Locally Aggressive Primary Intraosseous Paraganglioma of Sacrum.

Primary Intraosseous Paraganglioma (PGL) of sacrum is highly uncommon. Few of the spinal PGL reported were mostly intradural mass. Paraganglionic tissue is usually not present in the bone.