Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome [0.03%]
interleukin-1β抑制剂治疗冷吡啉相关周期综合征
Eugen Dhimolea
Eugen Dhimolea
Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, inherited autoinflammatory disorders associated with aberrant secretion of interleukin (IL)-1. These distinct conditions of autoinflammatory origin include...
Andrew Collins,Ioannis Politopoulos
Andrew Collins
The genetic factors known to be involved in breast cancer risk comprise about 30 genes. These include the high-penetrance early-onset breast cancer genes, BRCA1 and BRCA2, a number of rare cancer syndrome genes, and rare genes with more mod...
FAM13A locus in COPD is independently associated with lung cancer - evidence of a molecular genetic link between COPD and lung cancer [0.03%]
囊性纤维化跨膜传导调节因子13A基因位点与慢性阻塞性肺疾病和肺癌的分子遗传学联系研究
Robert P Young,Raewyn J Hopkins,Bryan A Hay et al.
Robert P Young et al.
Recent genome-wide association studies have reported a FAM13A variant on chromosome 4q22.1 is associated with lung function and COPD. We examined this variant in a case-control study of current or former smokers with chronic obstructive pul...
Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects [0.03%]
厄瓜多尔儿童先天畸形：建立全国出生缺陷登记系统的迫切需要
Fabricio González-Andrade,Ramiro López-Pulles
Fabricio González-Andrade
Aim: This study sets out (a) to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b) to set the basis for a new National Register of Birth Defects in Ecuador...
Aaron Theisen,Lisa G Shaffer
Aaron Theisen
Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and res...
Genetic screening for homozygous and heterozygous familial hypercholesterolemia [0.03%]
纯合子和杂合子家族性高胆固醇血症的基因筛查
Maria C Izar,Valéria A Machado,Francisco A Fonseca
Maria C Izar
Familial hypercholesterolemia (FH) is a common inherited disorder that results in premature atherosclerosis. Diagnosis of FH is suspected on the basis of clinical criteria, but confirmation requires genetic testing. In the era of statins, e...
Recent developments in the treatment of acute abdominal and facial attacks of hereditary angioedema: focus on human C1 esterase inhibitor [0.03%]
遗传性血管水肿急性腹部和面部发作的治疗新进展：重点在于人C1酯酶抑制剂
Lourdes Pastó Cardona,Ramon Lleonart Bellfill,Joaquim Marcoval Caus
Lourdes Pastó Cardona
Hereditary angioedema (HAE) is a potentially fatal genetic disorder typified by a deficiency (type I) or dysfunction (type II) of the C1-inhibitor (C1-INH) and characterized by swelling of the extremities, face, trunk, abdominal viscera, an...
Paige Teller,Rita K Kramer
Paige Teller
Current management of an asymptomatic BRCA mutation carrier includes early initiation and intensive cancer screening in combination with risk reduction strategies. The primary objectives of these interventions are earlier detection and canc...
Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism [0.03%]
过敏性鼻炎的遗传因素研究:focus在 toll样受体(tlr)基因多态性上
Zhiwei Gao,Donna C Rennie,Ambikaipakan Senthilselvan
Zhiwei Gao
Allergic rhinitis represents a global health issue affecting 10% to 25% of the population worldwide. Over the years, studies have found that allergic diseases, including allergic rhinitis, are associated with immunological responses to anti...
Ahmed Rady,Adel Elsheshai,Osama Elkholy et al.
Ahmed Rady et al.
Post-traumatic stress disorder is a commonly overlooked psychiatric disorder due to the heterogeneity of symptoms that may simulate many other psychiatric disorders. Such heterogeneity of manifestations may be explained by the multifaceted ...