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Asthma is associated with polycystic ovary syndrome and excess weight The Endocrine Society
EurekAlert (press release) Boston, MA–Among reproductive-age women, polycystic ovary syndrome (PCOS) as well as overweight and obesity are independently linked with asthma, new preliminary research from Australia suggests. The results will be presented in a poster Saturday, … |
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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]
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The asthma–COPD overlap syndrome: how is it defined and what are its clinical implications?
Dove Medical Press Abstract: It is increasingly recognized that both asthma and chronic obstructive pulmonary disease (COPD) are heterogeneous diseases with a large inter-individual variability with respect to their clinical expression, disease progression, and … |
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Genetic polymorphisms of the TNF-?-308G/A are associated with metabolic syndrome in asthmatic patients from Hebei province, China.
Int J Clin Exp Pathol. 2015;8(10):13739-46
Authors: Yang YH, Liu YQ, Zhang L, Li H, Li XB, Ouyang Q, Zhu GY
Abstract
Asthma is a complex inflammatory disease involving the critical actions of several important cytokines. Epidemiological data show that obesity could increase the risk of asthma, and insulin resistance, or metabolic syndrome are an important risk factor for obesity asthma. Some studies identified that upstream of the transcription start site within the TNF-? gene promoter region-308 polymorphism was associated insulin resistance or metabolic disorders, while this site was closely related to asthma. But no research was performed to evaluate the influence of TNF-?-308G/A polymorphism on metabolic syndrome in asthmatic patients. Here, we recruited 248 asthmatic patients, who were separated into asthma with Mets/asthma without Mets groups and 226 matched healthy controls from Hebei Province to evaluate the influence of TNF-?-308G/A polymorphism on metabolic syndrome in asthmatic patients. Single nucleotide polymorphism of TNF-?-308 locus was genotyped using PCR-RFLP. Some biochemical variables were also determined. Our result showed that the genotypic and allelic frequency of rs1800629 did not show significant difference between asthmatic patients and normal controls. However, the frequency of A allele was signi?cantly higher in asthma group with Mets (22.36%) than in controls (15.71%) (P = 0.02; OR = 0.647; 95% CI = 0.447-0.936). After analyzing the relationship between biochemical features of patients and genotype of TNF-?-308G/A, we found levels of LDL cholesterol, TNF-? and insulin, and HOMA-IR were significantly higher in the asthmatic patients carrying the GA and AA genotypes than in the carriers of GG genotype of rs1800629 (P = 0.029, P = 0.022, P = 0.043, respectively). Thus, our data suggested that TNF-?-308G/A variation was related to metabolic phenotype in asthma patients. Furthermore, we first identified TNF-?-308 A allele was the risk factor for asthmatic patients with Mets in Hebei population, China.
PMID: 26722602 [PubMed – in process]
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Roflumilast Gets the Go-Ahead for Patients with Asthma-COPD Overlap Syndrome
MD Magazine V. Beloglazov, from the Medical Academy named after S. I. Georgievsky in Russia, and colleagues studied the effects of roflumilast in patients with ACOS and presented the findings in a poster session at the 2015 American College of Allergy, Asthma, and … |
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Health care costs double for patients with asthma–COPD overlap syndrome
Healio Researchers divided participants into two groups — those with asthma alone (n = 26,060), and those with asthma–COPD overlap syndrome (n = 6,505). Patients in each group were matched for sex, age, region, health plan type, index year and index month. |
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Diagnostic criteria identifies patients with asthma-COPD overlap syndrome
Healio Cosío and colleagues assessed patients with COPD who participated in the COPD History Assessment in Spain multicenter study to determine if the use of usual clinical features for the diagnosis of asthma and COPD could identify asthma-COPD overlap … |
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Type 5 and 6 nasal septal deformities: Could we predict and prevent acute coronary syndrome attacks in the future?
Med Hypotheses. 2015 Aug 7;
Authors: Mladina R, Skitareli? N, Cari? T, Raguž M
Abstract
Undisturbed nasal breathing is essential for normal breathing physiology as a whole. Nasal septal deformities (NSD) are well known as a factor which can remarkably and substantially affect the quality of nasal and pulmonary breathing. However, it is well known that type 5 and type 6 nasal septal deformities may cause only a moderate, unilateral nasal obstruction or none at all. The effects of nasal obstruction on the respiratory and cardiovascular systems have been well studied so far: right ventricle problems, ischemic heart diseases, sleep disorders, mucociliary clearance system disturbances, paranasal sinus pathology, have all been described as a result of impaired nasal breathing. The connection between the upper and lower respiratory systems has been recognized in allergic rhinitis and asthma as well, resulting in the united airways concept. Most recently, the ostensible connection between chronic rhinosinusitis (CRS) and acute myocardial infarction has been said to be proven. However, the results of this study might have not been well founded since there are no direct and clear proofs that CRS as a chronic inflammatory process has anything to do with the acute coronary syndrome (ACS). On the other hand, a large international study on the incidence of NSD in CRS patients, based on the Mladina classification, showed that NSD were present in a high incidence and that the most frequent deformities were types 5 (36.18%) and 7 (29.92%). The vast majority of those types 7 consisted of types 3 and (again) types 5 or types 6 (76.32%). The fact that in CRS patients a remarkably high incidence of type 5 septal deformity can be seen, gives rise to thinking that this factor perhaps plays a role in the onset of ACS. Acute coronary syndrome is one of the leading causes of death all over the world. Traditional risk factors such as family history, overweight body, smoking, stress, hypertension, hypercholesterolemia, diabetes mellitus, coronary artery calcium score, C-reactive protein, lipoprotein, homocysteine, lipoprotein-associated phospholipase A2, as well as high-density lipoprotein functionality perhaps cannot account for the entire risk for incident coronary events. Several other potential risk factors have been identified in an effort to improve risk assessment for ACS. This article reviews one of them: the possible influence of an unusual, so far unknown predisposing factor: type 5 or type 6 nasal septal deformities. They have been found as pure, isolated types or as a part of combined nasal septal deformity (type 7).
PMID: 26277657 [PubMed – as supplied by publisher]
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MD Magazine |
Researchers Pinpoint Catalyst Behind Asthma-COPD Overlap Syndrome
MD Magazine Among nonsmokers with chronic asthma, ACOS occurs when the patient suffers from a loss of lung elasticity and airflow limitation—symptoms mimicking COPD. However, recent evidence indicated this condition occurred because of large and small airway … |
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Lung Disease News |
New Observations Made in Asthma-COPD Overlap Syndrome (ACOS) Patients
Lung Disease News Asthma-COPD overlap syndrome (ACOS) accounts for 15 to 25% of obstructive airway diseases and patients affected with ACOS usually exhibit worse symptoms and clinical outcomes when compared to patients with asthma or chronic obstructive pulmonary … |
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