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1.
Eur J Med Genet ; 65(3): 104443, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35085835

RESUMO

Obesity is a growing public health problem in many developed countries, although similar trends are increasingly being described in some developing nations. The genetic underpinnings of obesity continue to arouse increasing research interests, investigations, and discussions. The recent advances in next generation sequencing technologies have shed some more light on the diverse monogenic and polygenic causes of obesity. Syndromic obesity due to chromosomal or monogenic defects has attendant co-morbidities, which may include neurodevelopmental delays, dysmorphism as well as organ-specific developmental anomalies. An improved understanding of the nature of neurodevelopmental challenges in syndromic obesity may pave the way for personalized dietary and physical activity management approaches. This review article describes the clinical and molecular genetic aspects of obesity-related syndromes and the associated neurodevelopmental disabilities. The potential opportunities for individualized nutrigenomic managements of syndromic obesity are also highlighted.


Assuntos
Deficiência Intelectual , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência Intelectual/genética , Obesidade/genética , Síndrome
2.
Eur J Haematol ; 105(5): 519-523, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32589774

RESUMO

Coronavirus Disease 2019 (COVID-19) pandemic is a rapidly evolving public health problem. The severity of COVID-19 cases reported hitherto has varied greatly from asymptomatic to severe pneumonia and thromboembolism with subsequent mortality. An improved understanding of risk factors for adverse clinical outcomes may shed some light on novel personalized approaches to optimize clinical care in vulnerable populations. Emerging trends in the United States suggest possibly higher mortality rates of COVID-19 among African Americans, although detailed epidemiological study data is pending. Sickle cell disease (SCD) disproportionately affects Black/African Americans in the United States as well as forebearers from sub-Saharan Africa, the Western Hemisphere (South America, the Caribbean, and Central America), and some Mediterranean countries. The carrier frequency for SCD is high among African Americans. This article underscores the putative risks that may be associated with COVID-19 pneumonia in sickle cell trait as well as potential opportunities for individualized medical care in the burgeoning era of personalized medicine.


Assuntos
COVID-19/complicações , Traço Falciforme/complicações , Negro ou Afro-Americano/genética , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , COVID-19/epidemiologia , COVID-19/mortalidade , Humanos , Pandemias , Medicina de Precisão , Fatores de Risco , SARS-CoV-2 , Traço Falciforme/epidemiologia , Traço Falciforme/genética , Estados Unidos/epidemiologia
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