Association between pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections disease and tumor necrosis factor-α gene−308 g/a, −850 c/t polymorphisms in 4-12-year-old children in Adana/Turkey
In this study, ages of PANDAS patient and control groups were ranging from 4 years to 12-year-old. "Patient group" includes childhood onset PANDAS patients ( n = 42) and "control group" includes healthy children ( n = 58). Diagnoses have been carried out according to Diagnostic and Statistical Manual of Mental Disorder (DSM-IV) criteria with Affective Disorders and Schizophrenia-Present and Lifetime (KSAD-S-PL) and Children Yale-Brown Obsessive Compulsive Scale Moreover, PANDAS criteria established by the American National Psychiatry Institute have been employed for diagnoses. For identifying polymorphi...
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: H Umit LuleyapDilge OnatogluM Bertan YilmazDavut AlptekinAysegul Y TahirogluSalih CetinerAyfer PazarbasiIlker UnalAyse AvciGamze Comertpay Source Type: research

CD14 C-159T polymorphism and its association with chronic lung diseases: A pilot study on isocyanate exposed population of Central India
Conclusion: COPD risk significantly found among those with CC genotype and C allele (OR = 2.81 and 1.50 respectively), whereas ILD risk found significantly among CT genotype and C allele (OR = 1.75 and 1.40 respectively). Therefore, single nucleotide polymorphism (SNP) C-159T polymorphism in CD14 gene might be a risk factor for development of CLD in this population. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Protiti BoseRashmi BathriSajal DeKK Maudar Source Type: research

Analysis of methionine synthase reductase polymorphism (A66G) in Indian Muslim population
Conclusion: It is evident from the present study that the percentage of homozygous genotype GG and frequency of G allele is high in the target Muslim population. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Vandana RaiUpendra YadavPradeep KumarSushil Kumar Yadav Source Type: research

Small ubiquitin-like modifier 4 M55V polymorphism is not associated with diabetic nephropathy in Iranian type 2 diabetes patients
Conclusion: These findings indicate that SUMO4 M55V polymorphism is not associated with diabetic nephropathy in Iranian type 2 diabetes patients. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Farhad ShahsavarMehrzad JafarzadehAlireza AzargoonMehdi HedayatiBehnam Asadifar Source Type: research

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
Conclusion: This is the first study describing the presence of subtelomeric rearrangements in individuals with ID in Indonesia. Furthermore, it shows that also in Indonesia such abnormalities are a prime cause of ID and that in developing countries with limited diagnostic services such as Indonesia, it is important and feasible to uncover the genetic etiology in a significant number of cases with ID. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Farmaditya E. P. MundhofirWilly M NillesenBregje W. M. Van BonDominique SmeetsRolph PfundtGaby van de Ven-SchobersMartina Ruiterkamp-VersteegTri I WinarniBen C. J. HamelHelger G YntemaSultana M. H. Faradz Source Type: research

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
Conclusion: Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Neetha JohnMoka RajasekharKatta Mohan GirishaPodila Satya Venkata Narasimha SharmaPuthiya Mundyat Gopinath Source Type: research

Measuring opportunity for natural selection: Adaptation among two linguistically cognate tribes inhabiting two eco-situations of North-East India
Conclusion: The contribution of mortality component is sizeable to the total selection like many other tribes of North-East India. Higher proportion of embryonic deaths among the Mishings infers that the causes are mostly biological whereas, the higher proportion of child deaths among the Minyongs infers that the causes are mostly socio-cultural. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Maitreyee Sarma Source Type: research

Haptoglobin2-2 phenotype is an additional risk factor of retinopathy in type 2 diabetes mellitus
Conclusion: Hp2-2 phenotype is associated with susceptibility to DR showing a graded risk relationship to the number of Hp2 alleles. Determination of Hp phenotype may be useful in the risk assessment and management of DR. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Mukund R MogarekarMahesh H Hampe Source Type: research

Body composition in Egyptian Turner syndrome girls
Conclusion: This study presents the new body fat curves and reference values of body composition for untreated Egyptian TS adolescent girls. The present charts can be used for direct assessment of body FM % for Egyptian TS girls and evaluation for cases on GH treatment or other growth promoting therapy. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Moushira Erfan ZakiHanan H Afifi Source Type: research

Analysis of cytotoxic T-lymphocyte-associated antigen-4 and MMP-9 genes' methylation and their expression profiles with risk of non-alcoholic fatty liver disease
Conclusion: For the first time, our outcomes indicate that the methylation status of CTLA-4 and MMP-9 genes has no significant function on the process of NAFLD. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Dor Mohammad Kordi TamandaniMohammad HashemiSara Shafiepour Source Type: research

Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan
Muhammad Yaqoob, Farrukh Mahmood, Ghazala Hanif, Saima Mansoor Bugvi, Muhammad Afzal SheikhIndian Journal of Human Genetics 2013 19(2):136-143The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1 st July 2010 to 31 st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children's Hospital, Lah...
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Muhammad YaqoobFarrukh MahmoodGhazala HanifSaima Mansoor BugviMuhammad Afzal Sheikh Source Type: research

Children with isolated growth hormone deficiency: Empty sella versus normal sella
Conclusion: Our study showed a similar stature outcome in the two treatment groups. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Nagwa Abdallah IsmailNermeen Salah Eldin MetwalyFatma Ahmed El-MoguyMona Hassan HafezSoha M. Abd El DayemTarek Mohamed Farid Source Type: research

Birth defects in India: Hidden truth, need for urgent attention
Rinku SharmaIndian Journal of Human Genetics 2013 19(2):125-129Birth defects (structural, functional and metabolic disorder present from birth, may be diagnosed later) rising up as an important cause of infant mortality even in developing countries where infant mortality has been reduced to much extent. Seventy percent of birth defects are preventable through the application of various cost effective community genetic services. Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor ...
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Rinku Sharma Source Type: research

Molecular aberration studies in cases of idiopathic mental retardation: An update
Dhanjit Kumar DasIndian Journal of Human Genetics 2013 19(2):123-124 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Dhanjit Kumar Das Source Type: research

Duchenne muscular dystrophy: Advances in molecular appraoch
Afaf Benitto, Khalil Hamzi, Mohammed Itri, Ilham Slassi, Sellama NadifiIndian Journal of Human Genetics 2013 19(1):116-116 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Afaf BenittoKhalil HamziMohammed ItriIlham SlassiSellama Nadifi Source Type: research