Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Related Articles

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Medicine (Baltimore). 2016 Mar;95(9):e2918

Authors: Lee WI, Huang JL, Chen CC, Lin JL, Wu RC, Jaing TH, Ou LS

Abstract
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs).Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function. Candidate genes for PIDs predisposing to inflammatory bowel disease were sequencing in this study.Two neonates, born to nonconsanguineous parents, suffered from intractable diarrhea, recurrent infections, and massive hematemesis from esopharyngeal varices due to liver cirrhosis or accompanying Trichorrhexis nodosa that developed with age and thus guided the diagnosis of SD/THE compatible to TTC37 mutations (homozygous DelK1155H, Fs*2; heterozygous Y1169Ter and InsA1143, Fs*3). Their immunologic evaluation showed normal mitogen-stimulated lymphocyte proliferation, superoxide production, and IL-10 signaling, but low IgG levels, undetectable antibody to hepatitis B surface antigen and decreased antigen-stimulated lymphocyte proliferation. A PubMed search for bi-allelic TTC37 mutations and phenotypes were recorded in 14 Asian and 12 non-Asian cases. They had similar presentations of infantile onset refractory diarrhea, facial dysmorphism, hair anomalies, low IgG, low birth weight, and consanguinity. A higher incidence of heart anomalies (8/14 vs 2/12; P?=?0.0344, Chi-square), nonsense mutations (19 in 28 alleles), and hot-spot mutations (W936Ter, 2779-2G>A, and Y1169Ter) were found in the Asian compared with the non-Asian patients. Despite immunoglobulin therapy in 20 of the patients, 4 died from liver cirrhosis and 1 died from sepsis.Patients of all ethnicities with SD/THE with the characteristic triad of T nodosa, hepatic cirrhosis, and intractable enteropathy have low IgG, poor vaccine response and/or decreased antigen-stimulated lymphocyte proliferation. This is now better classified into the subgroup of “well-defined syndromes with immunodeficiency” (the update termed as “combined immunodeficiencies with associated or syndromic features”) than “predominantly antibody deficiencies” in the update PIDs classification, and requires optimal interventions.

PMID: 26945392 [PubMed – in process]

View full post on pubmed: asthma

Association Between Asthma and Obesity Among Immigrant Asian Americans, California Health Interview Survey, 2001-2011.

Association Between Asthma and Obesity Among Immigrant Asian Americans, California Health Interview Survey, 2001-2011.

Prev Chronic Dis. 2014;11:E209

Authors: Becerra BJ, Scroggins CM, Becerra MB

Abstract
Our objective was to study the comorbidity of asthma and obesity among foreign-born Asian Americans, by subgroups. Public data from the California Health Interview Survey, 2001-2011, were analyzed by using independent logistic regressions, yielding the association between asthma and obesity (Asian and standard cutoffs for body mass index [BMIs]) of 19,841 Asian American immigrant respondents. Chinese, Filipino, South Asian, and Japanese immigrants had a positive association between lifetime asthma and obesity, whereas among Korean immigrants, a positive association was found between lifetime asthma and overweight status (standard BMI cutoffs). Routine screening for this comorbidity is warranted among immigrant Asian Americans.

PMID: 25427317 [PubMed – as supplied by publisher]

View full post on pubmed: asthma

Asthma medicine sent for collector – The Asian Age


India Today

Asthma medicine sent for collector
The Asian Age
Responding to emails from the Naxals to a section of the local media a little past-midnight Monday asking the government to deliver medicines for the collector, who is asthmatic, through the mediators appointed by them to arrest his “fast deteriorating
Medicines being sent to Sukma Collector: RK SinghThe Hindu
Chhattisgarh Rushes Medicine as Abducted Collector Is Said to Be Critically IllIndia West
Abducted collector Alex Menon criticalNews24online
Health(Y) Destination –New York Daily News
all 938 news articles »

View full post on asthma – Google News

Doctors Manage Asthma In Pregnancy With Algorithm Against Inflammation Marker – Asian Scientist Magazine


Asian Scientist Magazine

Doctors Manage Asthma In Pregnancy With Algorithm Against Inflammation Marker
Asian Scientist Magazine
An Australian-designed asthma management program has the potential to halve asthma attacks in pregnant women, the most common chronic medical disorder experienced by this group. AsianScientist (Sep. 13, 2011) – Professor Peter Gibson,

View full post on asthma – Google News