Results 141 to 150 of about 630,874 (291)

Mutations of Dual Oxidase 2 (DUOX2) Gene among patients with Permanent and Transient Congenital Hypothyroidism [PDF]

, 2012
Objective: The prevalence of congenital hypothyroidism (CH) is high in Isfahan, Iran. In addition, it has different etiologies compared with other countries. The rate of parental consanguinity is also high in the city. Moreover, DUOX2 gene is effective
Feizi, Awat., Haghjooy Javanmard, Shaghayegh., Hashemipour, Mahin., Kelishadi, Roya., Rostampour, Noushin., Salehi, Mansour., Tajeddini, Mohammad Hasan.   +6 more
core  

Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat‐Wilson syndrome: A case report and literature review

JPGN Reports, Volume 6, Issue 4, Page 416-419, November 2025.
Abstract Gastrointestinal dysmotility is commonly reported among patients with Mowat‐Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2‐year‐old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively ...
Grace J. Lin, Shreya B. Kishore, Sally Samaan, Lisa S. Hackett, Kevan Jacobson, Gabriella Horvath   +5 more
wiley   +1 more source

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
A novel intronic CDKN1C variant (c.787+4A>T) was identified in an Iranian girl with IMAGe syndrome, expanding its genetic spectrum. This finding highlights the importance of whole‐exome sequencing for diagnosing rare disorders and managing life‐threatening adrenal insufficiency. ABSTRACT Introduction IMAGe syndrome, a rare disorder caused by maternally
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, Reza Bayat, Saeid Talebi, Shahram Savad, Nazanin Medghalchi, Bahareh Rabbani, Nejat Mahdieh   +8 more
wiley   +1 more source

Prevalence of Transient and Permanent Congenital Hypothyroidism in Mazandaran Province

Journal of Mazandaran University of Medical Sciences, 2018
Background and purpose: Congenital hypothyroidism (CH) is one of the most common preventable causes of mental disabilities. The present study was conducted to determine the prevalence of permanent and transient congenital hypothyroidism in Mazandaran ...
zahra Beheshti, Rozita Rezaei, Abbas Alipour, Mehrnoosh Kosarian, sussan saatsaz   +4 more
doaj  

Gestational Weight Gain and Different Degrees of Preterm Birth: A Hospital‐Based Study in Chinese Singleton Pregnancies

Nursing Open, Volume 12, Issue 11, November 2025.
ABSTRACT Aim The link between gestational weight gain and preterm birth remains inconclusive. The present study examines the association between gestational weight gain (GWG) and preterm birth among the Chinese population. Design A retrospective observational study design.
Xiaomei Xiang, Weihua Wang, Yan Yu, Shaonong Dang   +3 more
wiley   +1 more source

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review

Frontiers in Pediatrics
BackgroundVinblastine is a widely used chemotherapeutic agent for various cancers. We report a case of transient congenital hypothyroidism following maternal exposure to vinblastine during the third trimester of pregnancy and propose possible mechanisms ...
Zubair Amin, Zubair Amin, Win Thu Aung, Yvonne Peng Mei Ng, Yvonne Peng Mei Ng   +4 more
doaj   +1 more source

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 5, Page 1215-1227, November 2025.
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Augustin Vigouroux, Benjamin Glemain, Renato Torres, Laurence Jonard, Natalie Loundon, Evelyne Ferrary, Isabelle Mosnier, Hannah Daoudi, Sandrine Marlin, Ghizlene Lahlou   +9 more
wiley   +1 more source

The Role of Maternal TSH Receptor Blocking Antibody in the Etiology of Congenital Hypothyroidism in Isfahan

مجله دانشکده پزشکی اصفهان, 2011
Background: Considering the role of maternal TSH receptor blocking Ab (TRAb) in the etioligy of congenital hypothyroidism, the aim of this research was to determine its role among congenital hypothyroidism (CH) in Isfahan.
Shima Salehi Abari, Mahin Hashemipour, Shaghayegh Haghjooy Javanmard, Nafiseh Esmaill, Masoud Amini, Roya Kelishadi, Akbar Hasanzadeh   +6 more
doaj  

Family History of Thyroid Disease and Risk of Congenital Hypothyroidism in Neonates with Down Syndrome in Iraq

, 2021
Hany A. Alhasany, Mohammed AH Jabarah AL-Zobaidy, Ali A. Albu-Rghaif, Hany Akeel Al-Hussaniy   +3 more
openalex   +1 more source

Perinatal Outcomes After the Use of Kampo Medicines Containing Ephedra During Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 34, Issue 11, November 2025.
ABSTRACT Purpose Japanese traditional (Kampo) medicines containing ephedra are used to relieve symptoms of the common cold during pregnancy. The risks associated with perinatal outcomes, however, remain unclear. Thus, we evaluated the risk of adverse perinatal outcomes associated with the use of Kampo medicines containing ephedra during pregnancy using
Aoi Noda, Ryutaro Arita, Taku Obara, Minoru Ohsawa, Satoko Suzuki, Ken Haneda, Ryo Obara, Kei Morishita, Genki Shinoda, Keiko Murakami, Masatsugu Orui, Mami Ishikuro, Akiko Kikuchi, Shin Takayama, Tadashi Ishii, Shinichi Kuriyama   +15 more
wiley   +1 more source