Dissecting the heterogeneity of "in the wild" stress from multimodal sensor data.

Stress is associated with numerous chronic health conditions, both mental and physical. However, the heterogeneity of these associations at the individual level is poorly understood. While data generated from individuals in their day-to-day lives "in the wild" may best represent the heterogeneity of stress, gathering these data and separating signals from noise is challenging.

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.

Pathogenic mutations in mitochondrial DNA (mtDNA) compromise cellular metabolism, contributing to cellular heterogeneity and disease. Diverse mutations are associated with diverse clinical phenotypes, suggesting distinct organ- and cell-type-specific metabolic vulnerabilities. Here we establish a multi-omics approach to quantify deletions in mtDNA alongside cell state features in single cells derived from six patients across the phenotypic spectrum of single large-scale mtDNA deletions (SLSMDs).

Transition metal- and solvent-free -Markovnikov selective protoboration of alkenes with bis(pinacolato)diboron.

An efficient -Markovnikov selective transition metal- and solvent-free Lewis base-mediated protoboration of aromatic and aliphatic alkenes with bis(pinacolato)diboron (Bpin) as the boron reagent is reported. This protocol is practical and demonstrates broad substrate scope and good functional-group tolerance on alkenes to give synthetically useful alkyl boronate esters in excellent yields under mild reaction conditions. The gram-scale reaction further highlighted the usefulness of this method.

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2).

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific and sensitive DNAm signature reflecting the phenotype of WS. This signature can be used to distinguish loss-of-function from gain-of-function missense variants and to detect somatic mosaicism.

A simplified approach of prosthetic management of posttraumatic nasal obstruction using a custom-made unilateral intranasal stent in 14-year-old child.

Infections, trauma, iatrogenic causes, congenital malformations, or complications of systemic diseases can result in perforation of the nasal septum. An intranasal stent is a removable prosthesis that can be inserted into the nasal cavity to support the form of nose. The stenting can be used for recanalization and nasal valve preservation.

Double Lip-An Atypical Facial Anomaly: Two Case Reports.

Double lip is a rare abnormality. It affects the lips, more often the upper lips and could be acquired or congenital. It may be associated with Ascher's syndrome or occur in isolation.

An Appraisal of the Prevalence and Attributes of Traumatic Dental Injuries in the Permanent Anterior Teeth among 7-14-Year-Old School Children of North East Delhi.

Aims: The aim of this study was to assess the prevalence, associated risk factors, characteristics, and pattern of traumatic dental injuries (TDIs) in the permanent anterior teeth among school children of North East Delhi area.

Settings And Design: A cross-sectional study was done in 3000 school-going children aged 7-14 years.

Materials And Methods: A detailed case history and clinical examination were performed on the entire sample population.

Prosthetic Rehabilitation of an Insidiously Enlarged Traumatic Palatal Perforation after Orotracheal Intubation in a Young Diabetic Child.

This report describes an unusual case of an insidiously enlarged traumatic palatal perforation after orotracheal intubation in a four-year-old female child with Insulin Dependent Diabetes Mellitus (IDDM). The child was first diagnosed with diabetes at 10 months of age when she was hospitalized for pneumonia. Severe respiratory distress warranted assisted ventilation via orotracheal intubation.