Influenza-Associated Acute Necrotizing Encephalopathy in US Children.

Importance: Acute necrotizing encephalopathy (ANE) is a rare, but severe, neurologic condition for which epidemiologic and management data remain limited. During the 2024-2025 US influenza season, clinicians at large pediatric centers anecdotally reported an increased number of children with influenza-associated ANE, prompting this national investigation.

Objective: To understand the clinical presentation, interventions, and outcomes among US children diagnosed with influenza-associated ANE.

Exploring Cachexia: Severity, Functional Abilities, and Personal Experiences of Cancer Survivors through a Mixed-Methods Analysis.

Introduction: Cachexia, an involuntary weight loss and wasting of muscle, severely impairs the quality of life and treatment outcomes of survivors after cancer.

Objectives: The study opted for this mixed-method design to assess cachexia severity; functional impacts of cachexia; and lived experiences among survivors with the condition.

Methods: The cross-sectional study carried out at a tertiary care center in Chennai was based on the scores of 60 survivors of cancer, evaluated using the Cachexia Severity Score and Functional Assessment of Anorexia/Cachexia Therapy Scale, along with semi-structured interviews for six participants.

A New Approach to Haemodialysis: Nurse-Led Dual Intervention Eases AV-Fistula Puncture Pain and Discomfort.

Background: Chronic kidney disease (CKD) affects approximately 10% of the global population and often progresses to end-stage renal disease, necessitating hemodialysis. Arteriovenous (AV) fistula puncture is a routine yet painful procedure, highlighting the need for effective pain management strategies.

Objective: This study aimed to evaluate the effectiveness of a Nurse-Led Dual Intervention, combining cryotherapy and virtual reality, in reducing pain and discomfort during AV fistula puncture among hemodialysis patients.

Impact of double moisture technique on throat pain and dysphagia among post-operative Indian patients: A randomized controlled trial.

Post-operative pharyngeal discomfort and dysphagia are common issues that interfere with recovery, especially after surgeries involving general anesthesia and endotracheal intubation. A randomized controlled trial was conducted to evaluate the effectiveness of the double moisture technique in reducing sore throat and dysphagia in surgical recovery. Sixty patients were divided into experimental and control groups, with 30 patients each.

Effectiveness of respiratory care modalities on bio-physiological parameters among COPD patients at a tertiary care hospital in Chennai, India.

Chronic Obstructive Pulmonary Disease (COPD) is one of the prevalent global health problems, with chronic respiratory symptoms and airflow limitation due to anatomic abnormalities primarily in the airways and alveoli. Therefore it is of interest to evaluate the effectiveness of respiratory care modalities on bio-physiological parameters in COPD patients at a tertiary care hospital in Chennai. Using a quasi-experimental design with pre-test and post-test control groups, 80 subjects were selected through non-probability purposive sampling.

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.

We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.

The Genetics of Primary Microcephaly.

Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic exposures, in utero infections, and metabolic conditions. While the genetic microcephaly syndromes are relatively rare, studying these syndromes can reveal molecular mechanisms that are critical in the regulation of neural progenitor cells, brain size, and human brain evolution.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor as the cause of microcephaly-micromelia syndrome.

While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS).

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.

Mutations in several genes encoding centrosomal proteins dramatically decrease the size of the human brain. We show that Aspm (abnormal spindle-like, microcephaly-associated) and Wdr62 (WD repeat-containing protein 62) interact genetically to control brain size, with mice lacking Wdr62, Aspm, or both showing gene dose-related centriole duplication defects that parallel the severity of the microcephaly and increased ectopic basal progenitors, suggesting premature delamination from the ventricular zone. Wdr62 and Aspm localize to the proximal end of the mother centriole and interact physically, with Wdr62 required for Aspm localization, and both proteins, as well as microcephaly protein Cep63, required to localize CENPJ/CPAP/Sas-4, a final common target.

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

Primary microcephaly (MCPH) associated proteins CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome. We found that they interact to promote centriole duplication and form a hierarchy in which each is required to localize another to the centrosome, with CDK5RAP2 at the apex, and CEP152, WDR62 and CEP63 at sequentially lower positions. MCPH proteins interact with distinct centriolar satellite proteins; CDK5RAP2 interacts with SPAG5 and CEP72, CEP152 with CEP131, WDR62 with MOONRAKER, and CEP63 with CEP90 and CCDC14.