Results 61 to 70 of about 926,075 (161)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Etiological evaluation of primary congenital hypothyroidism cases

, 2017
Aim: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to ...
Nese Torun, Dilek, Emine, Digdem Bezen, Bezen, Digdem, Emine Dilek, Tutunculer, Filiz, Torun, Nese, Filiz Tutunculer   +7 more
core   +1 more source

Diagnosis of Congenital Hypothyroidism by Analysis of Medical Records [PDF]

, 2023
Congenital hypothyroidism is one of the causes of mental retardation in children that can be prevented if recognized and treated early. Thyroid hormones play a role in the development of the central nervous system.
Yenni, Ririn Afrima, Rahmadian, Rozi, Mardiawati, Dewi, Handayuni, Linda   +3 more
core  

The Clinical Utility of Individual Iodine Status Measures in Infants With Abnormal Thyroid Function: A Systematic Review

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To evaluate methods used to assess individual iodine status in infants under 2 years of age and to examine their clinical utility in relation to thyroid dysfunction across different clinical contexts. Design The protocol was registered on PROSPERO and followed PRISMA guidelines.
Sabrina Bilston‐John, Ellen Fawcett, Yoon Hi Cho, Michelle Marion Jack   +3 more
wiley   +1 more source

Congenital Hypothyroidism

, 2017
Congenital hypothyroidism (CH) results from the effects of insufficient thyroid hormone on the developing fetus and infant, and is characterized by severe intellectual disability and growth inhibition. CH can result from maternal iodine deficiency, which
Mary Lee Gregory
core   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Hyperdominant Left Circumflex Artery Challenging Conventional Paradigms and Current Guideline Recommendations: A Comprehensive Literature Review and Case Series

Clinical Case Reports, Volume 14, Issue 11, November 2026.
Summary of the patient's presentation, diagnostic evaluation, treatment, and follow‐up. ABSTRACT Despite its rarity in the general population, left dominant coronary circulation with a hyperdominant left circumflex artery (LCx) has been associated with a more severe risk for ischemic and coronary artery disease. The concealment of an isolated posterior
Amirmahdi Mohammadi, Mohammad Sadegh‐Vashveshady   +1 more
wiley   +1 more source

Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose Current guidelines recommend immediate treatment after diagnosis of congenital hypothyroidism and reassessment of the hypothalamic-pituitary-thyroid axis at 3 years of age.
Si-Hwa Gwag, Kyu Hyun Park, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee   +5 more
doaj   +1 more source

Efficacy and Safety of Benmelstobart Plus Anlotinib in Advanced Endometrial Cancer: Results of a Multi‐Cohort, Phase II Study (ETER200)

MedComm, Volume 7, Issue 11, November 2026.
The multi‐cohort, Phase II ETER200 study evaluated benmelstobart plus anlotinib or either agent alone in previously treated metastatic or recurrent endometrial cancer across molecular subtypes. In non–MSI‐H/pMMR tumors, benmelstobart plus anlotinib demonstrated durable antitumor activity without unexpected safety signals.
Shanhui Liang, Xiaojun Chen, Ke Wang, Dong Wang, Ruifang An, Jianqing Hou, Ying Yang, Danbo Wang, Pengpeng Qu, Bingzhong Zhang, Wei Duan, Xiumin Li, Aimin Zang, Guohua Yu, Hanmei Lou, Desheng Yao, Shuzhen Wang, Dong Yan, Liang Li, Xiaowei Liu, Weidong Zhao, Zhengzheng Chen, Jing Fei, Jundong Li, Jing Wang, Zhilian Wang, Shuzhong Yao, Fangling Ning, Huaijun Zhou, Li Sun, Lingya Pan, Qing Liu, Haihua Yang, Li Wang, Mingjun Zhang, Xiaoxiang Chen, Jianlin Yuan, Xinwen Zhang, Youzhong Zhang, Qinping Liao, Xiaohua Wu   +40 more
wiley   +1 more source

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH [PDF]

Endocrine Connections, 2017
Background The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T 4 .
Fu, Chunyun, Luo, Shiyu, Li, Yingfeng, Li, Qifei, Hu, Xuehua, Li, Mengting, Zhang, Yue, Su, Jiasun, Hu, Xuyun, Chen, Yun, Wang, Jin, Xie, Bobo, Luo, Jingsi, Fan, Xin, Chen, Shaoke, Shen, Yiping   +15 more
openaire   +5 more sources