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1.
Diabetes Metab Syndr ; 13(3): 1995-1999, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31235126

RESUMO

AIM: This pilot study in Kuwait was aimed to assess the effect of Sudarshan kriya yoga (SKY) on anxiety, depression and total quality of life in people with type 2 diabetes mellitus (T2DM). METHODS: 26 T2DM patients aged greater than 30, male and female visiting the outpatient clinic of Dasman Diabetes Institute were enrolled for the study. Pre and post 5 day SKY intervention responses of participants on psychosocial problems were evaluated using four questionnaires (Hamilton anxiety, patient health questionnaire (PHQ-9), Hospital anxiety depression and WHO total quality of life (QOL). Biochemical parameters; such as lipid profile, glycated hemoglobin (HbA1c) were measured at baseline and after 15 weeks of SKY practice. RESULTS: The mean age of the participants was 56.7 (±11.4 SD) years, and mean duration of diabetes 15.0 (±9.3 SD) years. Comparison of responses before and after intervention indicated a significant improvement in the QOL, depression, anxiety and insomnia. But no significant improvement in glycemic control. CONCLUSION: Results indicate that SKY can be potentially beneficial for treating anxiety, insomnia, and depression associated in people with T2DM and in improving the quality of life in people with T2DM.


Assuntos
Ansiedade/prevenção & controle , Depressão/prevenção & controle , Diabetes Mellitus Tipo 2/complicações , Qualidade de Vida , Yoga , Adulto , Idoso , Ansiedade/epidemiologia , Ansiedade/etiologia , Biomarcadores/análise , Glicemia/análise , Depressão/epidemiologia , Depressão/etiologia , Diabetes Mellitus Tipo 2/psicologia , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Humanos , Kuweit/epidemiologia , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Prognóstico , Estudos Prospectivos , Inquéritos e Questionários
2.
Sci Rep ; 8(1): 16583, 2018 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-30409984

RESUMO

Consanguineous populations of the Arabian Peninsula have been underrepresented in global efforts that catalogue human exome variability. We sequenced 291 whole exomes of unrelated, healthy native Arab individuals from Kuwait to a median coverage of 45X and characterised 170,508 single-nucleotide variants (SNVs), of which 21.7% were 'personal'. Up to 12% of the SNVs were novel and 36% were population-specific. Half of the SNVs were rare and 54% were missense variants. The study complemented the Greater Middle East Variome by way of reporting many additional Arabian exome variants. The study corroborated Kuwaiti population genetic substructures previously derived using genome-wide genotype data and illustrated the genetic relatedness among Kuwaiti population subgroups, Middle Eastern, European and Ashkenazi Jewish populations. The study mapped 112 rare and frequent functional variants relating to pharmacogenomics and disorders (recessive and common) to the phenotypic characteristics of Arab population. Comparative allele frequency data and carrier distributions of known Arab mutations for 23 disorders seen among Arabs, of putative OMIM-listed causal mutations for 12 disorders observed among Arabs but not yet characterized for genetic basis in Arabs, and of 17 additional putative mutations for disorders characterized for genetic basis in Arab populations are presented for testing in future Arab studies.


Assuntos
Árabes/genética , Sequenciamento do Exoma/métodos , Predisposição Genética para Doença/etnologia , Variação Genética , Metagenômica/métodos , Consanguinidade , Evolução Molecular , Frequência do Gene , Predisposição Genética para Doença/genética , Humanos , Judeus/genética , Kuweit/etnologia , Mutação de Sentido Incorreto , Variantes Farmacogenômicos , Filogenia , Polimorfismo de Nucleotídeo Único , População Branca/genética
3.
Med Princ Pract ; 27(2): 145-151, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29402776

RESUMO

OBJECTIVE: To investigate the effect of the common fat mass and obesity-associated (FTO) gene polymorphism rs9939609 on body mass index (BMI) in one of the most obese populations worldwide. SUBJECTS AND METHODS: Genotypic data for FTO rs9939609 were available for 1,034 unrelated Kuwaiti adults obtained from Kuwait's Dasman Diabetes Institute and Kuwait University. The association between the FTO polymorphism with BMI as continuous and categorical (normal BMI [< 25] vs. overweight/obese [> 25]) variables was analyzed using both linear and logistic regression models, respectively, with the assumption of both dominant and additive genetic models performed using the SNPassoc package from R statistics. RESULTS: The A allele was associated with increased BMI (ß = 1.21; 95% CI = 0.16-2.26; p = 0.023). In concordance, the categorical BMI (normal vs. overweight/obese) also showed a significant association between the A allele and overweight/obesity (OR = 1.47; 95% CI = 1.01-2.12; p = 0.041). However, no association between the FTO variant was observed with cardiometabolic traits. CONCLUSION: We observed an association between the common FTO rs9939609 polymorphism and increased BMI (overweight/obesity) in Kuwaiti adults, which is consistent with previous research in other populations. Our findings encourage further investigation of genetic variants to elucidate the mechanisms involved in the development of obesity in such an obesogenic population.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Obesidade/epidemiologia , Obesidade/genética , Adulto , Idoso , Índice de Massa Corporal , Estudos de Coortes , Feminino , Genótipo , Humanos , Kuweit/epidemiologia , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Análise de Regressão
4.
Eur J Med Genet ; 60(12): 658-666, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28870638

RESUMO

Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient. Cell culture studies revealed normal subcellular localization of the mutant WDR35 protein in comparison to wildtype protein, pointing towards impaired protein-protein interaction and/or altered cell signaling pathways as a consequence of the mutated allele. This research study highlights the importance of including pathogenic variant identification in the diagnosis pipeline of ciliary chondrodysplasias, especially for clinically not fully defined phenotypes.


Assuntos
Osso e Ossos/anormalidades , Ciliopatias/genética , Craniossinostoses/genética , Displasia Ectodérmica/genética , Síndrome de Ellis-Van Creveld/genética , Mutação de Sentido Incorreto , Proteínas/genética , Adulto , Células Cultivadas , Criança , Ciliopatias/diagnóstico , Craniossinostoses/diagnóstico , Proteínas do Citoesqueleto , Diagnóstico Diferencial , Displasia Ectodérmica/diagnóstico , Síndrome de Ellis-Van Creveld/diagnóstico , Feminino , Proteínas Hedgehog , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Linhagem , Ligação Proteica , Transporte Proteico , Proteínas/metabolismo , Sequenciamento do Exoma
5.
BMC Res Notes ; 7: 914, 2014 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-25516205

RESUMO

BACKGROUND: Dilated cardiomyopathy is myocardial disease characterized by dilatation and impaired contraction of the left ventricle or both left and right ventricle. The majority of these cases are secondary to coronary artery disease, hypertension and valvular cardiomyopathy. Patients diagnosed with dilated cardiomyopathy are further clinically evaluated for evidence of familial history of the disease. Those families have shown to have genetic predisposition to dilated cardiomyopathy; thus, currently there is no available single genetic test that allows comprehensive testing of all causative genes. We report a Kuwaiti case of dilated cardiomyopathy that was diagnosed at young age. The patient clinical presentation pointed out to the fact that this was a familial disease. This case is the first reported in Kuwait clinically presented with familial dilated cardiomyopathy implying a genetic susceptibility factor to be further investigated within the at-risk family members. CASE PRESENTATION: 23-year-old Arab ethnicity Kuwaiti male with strong family history of dilated cardiomyopathy was admitted witnessed with sudden cardiac death. The patient presented with sudden arrhythmic death and survived with permanent anoxic brain injury. Transthoracic echocardiography revealed dilated cardiomyopathy with severe global left ventricular systolic dysfunction. After thorough investigation, the patient shown to have strong family history of dilated cardiomyopathy. CONCLUSION: Familial dilated cardiomyopathy is poorly documented in Kuwait. We present this case with future plan to study the genetic map of his family.


Assuntos
Cardiomiopatia Dilatada/complicações , Morte Súbita Cardíaca/etiologia , Adulto , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/fisiopatologia , Ecocardiografia , Eletrocardiografia , Humanos , Kuweit , Masculino
6.
Artigo em Inglês | MEDLINE | ID: mdl-18583794

RESUMO

Scleromyxedema is a rare, generalized form of lichen myxedematosus, which may be associated with systemic involvement and can be fatal. The therapeutic options available provide partial or inconsistent response and are associated with significant adverse effects. We report a case of scleromyxedema with cardiac involvement, treated with low-dose intravenous immunoglobulin, with almost complete clearing of the skin lesions. The patient died after three cycles of treatment, possibly due to myocardial infarction.


Assuntos
Morte Súbita Cardíaca/etiologia , Cardiopatias/etiologia , Imunoglobulinas Intravenosas/efeitos adversos , Fatores Imunológicos/efeitos adversos , Escleromixedema/terapia , Adulto , Eletrocardiografia , Evolução Fatal , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Fatores Imunológicos/administração & dosagem , Masculino , Fatores de Risco , Escleromixedema/diagnóstico
7.
Artigo em Inglês | MEDLINE | ID: mdl-17050936

RESUMO

A 45-year-old male presented with asymptomatic tumors all over the body. The tumors showed no signs of ulceration or regression. There were generalized, nontender, firm to hard enlarged lymph nodes without hepatosplenomegaly. Biopsy and immunophenotyping revealed CD 30+ anaplastic primary cutaneous large cell lymphoma. Primary cutaneous anaplastic large cell lymphoma is characterized by single or grouped reddish-brown tumor nodules, which frequently tend to ulcerate. Secondary involvement of lymph nodes is seen in only 25%. The lesions responded dramatically to chemotherapy, but recurred.


Assuntos
Antígeno Ki-1/biossíntese , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/imunologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/imunologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Humanos , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Vincristina/uso terapêutico
8.
Artigo em Inglês | MEDLINE | ID: mdl-16880579

RESUMO

Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.


Assuntos
Transtornos da Pigmentação/complicações , Dermatopatias Genéticas/complicações , Esclerose Tuberosa/complicações , Adolescente , Feminino , Dermatoses do Pé/complicações , Dermatoses do Pé/genética , Dermatoses do Pé/patologia , Dermatoses da Mão/complicações , Dermatoses da Mão/genética , Dermatoses da Mão/patologia , Humanos , Masculino , Mucosa Bucal/patologia , Transtornos da Pigmentação/genética , Transtornos da Pigmentação/patologia , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/patologia , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia
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