Publications by authors named "Tim Phetthong"
A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.
BMC Pregnancy Childbirth
October 2024
Article Synopsis
- Prenatal ultrasound showing echogenic kidneys and low amniotic fluid can be stressful, complicating predictions about outcomes and recurrence risks for future pregnancies.
- The report presents two cases of fetal echogenic kidneys; one was diagnosed postnatally with glomerulocystic kidney disease, while the other confirmed autosomal recessive polycystic kidney disease with a genetic mutation.
- The study emphasizes the need for accurate prenatal diagnosis and consideration of various conditions, like glomerulocystic kidney disease, to improve counseling and management for affected families.*
Article Synopsis
- Pettigrew syndrome (PGS) is a brain condition linked to a problem in the AP1S2 gene that causes severe learning difficulties.!
- A Thai family studied had six members with very limited communication and other issues like stiff arms and legs, along with one patient having a cataract.!
- Scientists found a new change in the AP1S2 gene that causes mistakes when making proteins, which might explain why symptoms can be different in family members.!
Background: Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3 or chronic neuronopathic GD. The purposes of this study were to describe clinical characteristics of Thai GD in patients diagnosed and/or followed up during 2010-2018 and to perform re-genotyping including analysis of GBA recombinant alleles which had not been investigated in Thai patients before.
View Article and Find Full Text PDFThe OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosomal recessive and autosomal dominant patterns, respectively. We report a 5-year-old girl with developmental delay, facial phenotypes resembling Williams syndrome, and cardiac defects.
View Article and Find Full Text PDFBackground: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable.
Objective: This study aimed to characterize the genotype-phenotype correlation of G6PD mutations in Thai pediatric patients who were followed-up in Phramongkutklao Hospital, a tertiary center in central Thailand.
Kabuki syndrome (KS) is a rare heterogeneous phenotypic genetic syndrome, characterized by hypotonia, developmental delay and/or intellectual disability with typical facial features. It is challenging to diagnose KS in newborn and young infant. We report a Thai girl who presented with two rare co-occurrence phenotypes, hyperinsulinemic hypoglycemia and midgut malrotation.
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