SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Econometric models of child mortality dynamics in rural Bangladesh. [PDF]
The studies distinguish the differences in child mortality dynamics in rural Bangladesh between two areas ICDDR,B and comparison with and without extensive health services.
Saha, U.R.
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Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Child-To-Adult Body Size Change and Risk of Depression and Anxiety: A Large Prospective Cohort Study. [PDF]
Peng K, Peng J, Xu M, Liu Y, Gong Y.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Exploring mortality patterns in Pakistani children and adolescents aged 5-19: evidence from a national verbal and social autopsy study. [PDF]
Soofi SB +10 more
europepmc +1 more source
Creating a child feeding index using the demographic and health surveys [PDF]
Data from the Demographic and Health Surveys (DHS) for five Latin American countries (seven data sets) were used to explore the feasibility of creating a composite feeding index and to examine the association between feeding practices and child height ...
Menon, Purnima, Ruel, Marie T.
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ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Rates and causes of neonatal and under-five mortality: insights from a national household survey in Pakistan. [PDF]
Malik AA +10 more
europepmc +1 more source
Protect Your Child from COVID-19, the Flu, and Other Illnesses : Help Your Child Stay Healthy at School [PDF]
Updated Apr. 27, 2023What You Need to Know\u2022 During the school year, kids tend to get sick more often \u2014 and spread germs to their friends and classmates.\u2022 COVID-19 can cause serious health problems, so it\u2019s more important than ever to ...
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