Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Down syndrome (DS) is the commonest genetic disorder and more liable for recurrent infections. We aimed to determine the differences in lymphocyte subgroups between DS children and the healthy population and to study the pattern and likelihood for recurrent infections and hospital admission due to infection. Our study was carried out in the Genetic Unit of Mansoura University Children's Hospital, Egypt. The study enrolled 150 DS (DS group) and 100 controls (CG group). They were assessed for recurrent infections (including tonsillitis, otitis media [OM], pneumonia, upper respiratory tract infections [URTI], sinusitis, and gastroenteritis [GE]) and hospital admission due to infections. All patients were subjected to complete blood count and flow cytometric analysis for expression markers of B lymphocytes (CD19), natural killer (NK) cells (CD56), and T lymphocytes (CD3, CD4 and CD8). We found a statistically significant increase in the frequency of URTIs and sinusitis, OM, pneumonia, and hospital admission in the DS group. As regards the type of recurrent infection in DS, it was highest for URTIs and sinusitis. For age groups below 13 years, a statistically significant decrease in all studied CD markers was found in the DS group, while for the 13-18-year-olds, a statistically significant decrease was found in CD4, CD19, and CD56 in the DS group. Non-significant correlations were found between CD markers and recurrent infection and hospital admission. We concluded that lymphocyte subgroups that carry CD3, CD4, CD8, CD19, and CD56 were decreased in DS. Recurrent infections and hospital admission are still striking feature for DS but are not significantly correlated with lymphocyte subgroups.
 ...
PMID:Lymphocyte subgroups and recurrent infections in children with Down syndrome - a prospective case control study. 3058 68

Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules. Patients present with serum uric acid concentrations of less than 2mg/dl (119 micromol/L) with increased fractional excretion above 10%. Most of the patients are asymptomatic and are detected incidentally. However, complications such us nephrolithiasis, hematuria, acute renal failure exercise-induced or after dehydration for acute gastroenteritis, or posterior reversible encephalopaty syndrome (PRES) may develop. Hereditary renal hypouricemia is confirmed by molecular genetic analysis of the two genes which codify the uric acid transport in the kidney tubules. The renal hypouricemia type 1 (OMIM 220150) is characterized by loss-of-function mutations in the SLC22A12 gene which encodes URAT 1 transporter, and the hypouricemia type 2 (OMIM 612076) is caused by defects in the SLC2A9 gene. Homozygous mutations of SLC2A9 cause the most severe forms of the disease. Most mutations have been identified in Japanese adults, and only a few in children. We describe three asyntomatic pediatric Spanish patients with renal hypouricemia, with genetic confirmation, and we make a revision of all of the pediatric cases with genetic study published in the literature.
 ...
PMID:??? 3070 53