Results 41 to 50 of about 242,137 (307)

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

Elemene Augments the Effects of Anti‐PD‐1 Immunotherapy on Hepatocellular Carcinoma by Regulating the miR‐130a‐5p/SPP/MHC‐I Axis

Advanced Science, EarlyView.
Elemene increases SPP expression by competitively binding with miR‐130a‐5p to suppress SPP mRNA degradation. This led to more antigen/MHC‐I complexes being expressed on the cell surface, which consequently facilitated the recognition and killing of HCC cells by CTLs and enhancing the antitumor immune efficacy of anti‐PD‐1.
Menglan Wang, Mengqing Sun, Heng Dong, Xiaoting Zhang, Jingbo Zhang, Zhengguo Zhang, Mengjie Ni, Lina Li, Yunxin Pei, Xiaoyu Chen, Qian Li, Fangtian Bu, Jiacheng Huang, Liangyu Jiang, Zhuting Fang, Xuliang Chen, Jianxiang Chen, Yiting Qiao, Tian Xie   +18 more
wiley   +1 more source

Prevalence of Oral Lichen Planus in Patients with Hypothyroidism Versus Nonhypothyroidism

Journal of Pharmacy and Bioallied Sciences
Background: A chronic inflammatory illness known as oral lichen planus (OLP) affects approximately 1–2% of adults, with middle-aged women having a higher prevalence than men.
Priyanka Vinod Bansal, Kavita Raj, Neha Gupta, Dhara Dwivedi, Ashish Sethi, Nitin Prabhakar, Ramanpal Singh Makkad   +6 more
doaj   +1 more source

Thyroxine treatment in patients with symptoms of hypothyroidism but thyroid function tests within the reference range: randomised double blind placebo controlled crossover trial [PDF]

, 2001
OBJECTIVES: To determine whether thyroxine treatment is effective in patients with symptoms of hypothyroidism but with thyroid function tests within the reference range, and to investigate the effect of thyroxine treatment on psychological and physical ...
Davidson, K.M., Kelly, C.J.G., Marshall, K., McLaren, E.H., McMahon, A.D., Pollock, M.A., Sturrock, A.   +6 more
core   +2 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Thyroid Profile of Neonates Born to Mothers with Hypothyroidism Detected Before and During Pregnancy

Journal of Medical Sciences and Health
Introduction: Congenital hypothyroidism is a leading preventable cause of intellectual disability. This study explores whether maternal hypothyroidism provides a greater risk for congenital hypothyroidism and compares thyroid hormone levels in ...
Rhea Suzanne John, Shreedhara Avabratha, Sweta Shanbhag   +2 more
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Combined atypical primary hypoadrenocorticism and primary hypothyroidism in a dog [PDF]

, 2016
A dog with combined atypical primary hypoadrenocorticism and primary hypothyroidism is described. The dog presented with waxing and waning, vague complaints since more than a year and had been treated with several drugs without complete resolution of ...
Binst, Dominique, Daminet, Sylvie, Martlé, Valentine, Paepe, Dominique, Smets, Pascale, Vanmal, Britt   +5 more
core  

Glycosylation in the thyroid gland : vital aspects of glycoprotein function in thyrocyte physiology and thyroid disorders [PDF]

, 2018
The key proteins responsible for hormone synthesis in the thyroid are glycosylated. Oligosaccharides strongly affect the function of glycosylated proteins.
Ewa Pocheć, Kamila Kozłowska, Marta Ząbczyńska   +2 more
core   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source