Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.

Medulloblastoma Molecular Subgrouping and Outcomes Data of a Single Center From a Low- and Middle-Income Country.

Introduction: Medulloblastoma (MB) is the most common malignant childhood brain tumor. Molecular subgrouping of MB has become a major determinant of management in high-income countries. Subgrouping is still very limited in low- and middle-income countries (LMICs), and its relevance to management with the incorporation of risk stratification (low risk, standard risk, high risk, and very high risk) has yet to be evaluated in this setting.

Frequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study.

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single tertiary care center in Pakistan, a country with high consanguinity rates.

Patients And Methods: We reviewed the data of patients age <18 years with pHGG, anaplastic astrocytoma, and diffuse midline glioma (DMG) with CMMRD testing between 2016 and 2023.

East Asia and the Pacific Surveillance Metrics and History of the COVID-19 Pandemic: Updated Epidemiological Assessment.

Background: This study updates the COVID-19 pandemic surveillance in East Asia and the Pacific we first conducted in 2020 with two additional years of data for the region.

Objective: First, we measure whether there was an expansion or contraction of the pandemic in East Asia and the Pacific region when the World Health Organization (WHO) declared the end of the COVID-19 public health emergency of international concern on May 5, 2023. Second, we use dynamic and genomic surveillance methods to describe the dynamic history of the pandemic in the region and situate the window of the WHO declaration within the broader history.