Związek między polimorfizmem rs7903146 genu TCF7L2 a nefropatią cukrzycową nie jest niezależny od cukrzycy typu 2 — badanie populacji Indii Południowych i metaanaliza

Diabetic nephropathy (DN) is a chronic microangiopathic complication of both type 1 (T1DM) and type 2 diabetes mellitus (T2DM). The TCF7L2 gene has been reported to be associated with type 2 diabetes risk. We aimed to investigate the impact of TCF7L2 gene on the susceptibility of T2DM and DN in a south Indian population. Plus to evaluate the association of rs7903146 in the TCF7L2 gene with T2DM in the Indian population. The subjects recruited for this included 55 diabetic cases with diabetic nephropathy, 68 diabetic cases without nephropathy, and 82 non-diabetic healthy controls. Genomic DNA was isolated from blood and genotyping of TCF7L2 rs7903146 was performed by PCR-RFLP analysis. A literature survey was carried out into the effect of rs7903146 on genetic susceptibility to T2DM in Indian populations and we then performed a meta-analysis in order to evaluate its association with T2DM. Analysis of TCF7L2 rs7903146 in normal controls and diabetics with or without nephropathy demonstrated that the ‘T’ allele is associated with both diabetes (p = 0.049) and DN (p = 0.024), but this association is not independent of T2DM. Meta-analysis showed that the mutant allele and genotypes are associated with T2DM in Indian populations. In summary, a significant association exists between the ‘T’ allele and DN, but this association is not independent of T2DM. Pooled meta-analysis of studies on rs7903146 and T2DM confirmed that rs7903146 is significantly associated with susceptibility to T2DM in Indian populations. (Endokrynol Pol 2014; 65 (4): 298–305)Nefropatia cukrzycowa (DN, diabetic nephropathy) jest przewlekłym powikłaniem o charakterze mikroangiopatii występującym zarówno w cukrzycy typu 1 (T1DM, type 1 diabetes mellitus), jak i typu 2 (T2DM, type 2 diabetes mellitus). Gen TCF7L2 jest związany z ryzykiem cukrzycy typu 2. Badanie przeprowadzono w celu dokonania oceny wpływu genu TCF7L2 na podatność na zachorowanie na T2DM i DN w populacji Indii Południowych oraz oceny związku między występowaniem polimorfizmu rs7903146 genu TCF7L2 i T2DM w populacji południowej części Indii. Do badania włączono 55 przypadków chorych na cukrzycę z nefropatią cukrzycową, 68 przypadków cukrzycy bez nefropatii i 82 osoby niechorujące na cukrzycę jako grupę kontrolną. Genomowe DNA izolowano z krwi i przeprowadzono genotypowanie polimorfizmu rs7903146 genu TCF7L2 metodą analizy PCR-RFLP. Przeprowadzono również przegląd literatury pod kątem danych dotyczących wpływu występowania polimorfizmu rs7903146 na genetyczną podatność na T2DM w populacji hinduskiej, a następnie przeprowadzono metaanalizę w celu oceny jego związku z T2DM. Analiza polimorfizmu rs7903146 genu TCF7L2 u zdrowych osób z grupy kontrolnej oraz u chorych na cukrzycę z nefropatią i bez nefropatii wykazała, że allel T jest związany zarówno z cukrzycą (p = 0,049), jak i DN (p = 0,024), jednak ten związek nie jest niezależny od T2DM. Metaanaliza wykazała, że zmutowane allele i genotypy są związane z T2DM w populacji hinduskiej. Podsumowując, istnieje istotny związek między allelem T i DN, jednak związek ten nie jest niezależny od T2DM. Metaanaliza danych z badań dotyczących polimorfizmu rs7903146 i T2DM potwierdziła, że obecność polimorfizmu rs7903146 jest istotnie związana z podatnością na zachorowanie na T2DM w populacji hinduskiej. (Endokrynol Pol 2014; 65 (4): 298–305

Prevalence of Toxocara antibodies among patients clinically suspected to have ocular toxocariasis: A retrospective descriptive study in Sri Lanka

Abstract Background Human toxocariasis, caused by Toxocara canis, T. cati, and T. vitulorum of dogs, cats and ruminants respectively, is recognized as an important zoonotic infection worldwide. The typical clinical syndromes of toxocariasis in humans are ocular larva migrans (OLM) and visceral larva migrans (VLM). The most commonly affected sites of OLM are the peripheral retina and/or vitreous humor. In Sri Lanka, there is a dearth of information on prevalence of ocular infection in our population. Therefore, the present study was carried out to determine the prevalence of Toxocara antibodies in suspected OLM patients and to describe demographic factors and clinical manifestations of seropositive patients. A total of 250 clinically suspected ocular toxocariasis cases referred by consultant eye surgeons to the Department of Parasitology, University of Peradeniya were studied between the years 1995 to April 2015. Methods Data (age, sex, fundoscopic findings) were gathered from the referral letters. Each serum sample was subjected to Toxocara excretory – secretory antigen ELISA (TES - ELISA). Results Out of the 250 cases, 155 (62%) were seropositive. The age range of the seropositive cases was 1 to 78 years with the mean age of 27 years. The highest seropositivity (25/155) was observed within the age group of 10 to 14 years. The most frequent clinical presentation of seropositive OLM cases were unilateral reduced vision and red eye. The other symptoms include tearing, photophobia and leukokoria. A high proportion of seropositive OLM cases had uveitis (34.19%) followed by reduced vision (21.94%), vitritis (12.9%) and choroiditis (7.74%). However none of these clinical manifestations were significantly associated with TES-ELISA seropositivity except vitreits (X2 = 8.557, p = 0.003). Conclusion In conclusion, the results of this study showed high seroprevalence of toxocariasis among clinically suspected OLM cases confirming the toxoplasmic etiology. This high rate of Toxocara seropositivity in ocular patients should alert ophthalmologists in Sri Lanka to include toxocariasis in the differential diagnosis of ocular diseases presented with the symptoms and signs stated above

Frequency of Toxocariasis among Patients Clinically Suspected to Have Visceral Toxocariasis: A Retrospective Descriptive Study in Sri Lanka

Introduction. Human toxocariasis is caused by several species of the nematode Toxocara. Two common clinical syndromes are ocular and visceral larva migrans. Objectives. To determine the Toxocara antibody positivity in clinically suspected VLM patients and to describe demographic factors and clinical manifestations of seropositive patients. Methods. 522 clinically suspected patients were studied between 1993 and 2014. Relevant data was gathered from referral letters. Serum samples were subjected to Toxocara antigen ELISA. Results. Overall, seropositivity was 50.2% (262), of which 109 (40.8%) were positive at high level of Toxocara antibody carriage and 153 (58.4%) were positive at low levels. The seropositives ranged from 3 months to 70 years (mean = 7.8). Younger age group had higher levels of seropositivity and it was statistically significant. Majority of children under 5 years were seropositive (47.7%, n=125). Seropositivity was common in males (55.3%, n=145). Clinical manifestations of seropositives include lymphadenopathy (24.1%) skin rash (22.5%), dyspnoea (21.7%), fever (21%), hepatosplenomegaly (9.2%), and abdominal pain (3.8%). 197 (75.2%) seropositive cases had eosinophilia. These symptoms were not statistically significant. Conclusions. This study confirms toxocariasis as an important cause of childhood ill health identifying common clinical symptoms recommending preventive measures to limit transmission