Results 121 to 130 of about 615,625 (251)

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia

Journal of Cellular and Molecular Medicine, Volume 30, Issue 1, January 2026.
ABSTRACT Familial hypercholesterolemia (FH) is a genetic disorder characterised by elevated plasma LDL‐cholesterol, predisposing to premature atherosclerotic cardiovascular disease. Most cases follow an autosomal dominant pattern (ADH) caused by pathogenic variants in LDLR, APOB or PCSK9.
Wirath Ben Ncir, Afif Ben‐Mahmoud, Hamdi Frikha, Fatma Abdelhedi, Faten Hadj Kacem, Nabila Majdoub, Mouna Mnif, Hyung‐Goo Kim, Leila Ammar Keskes, Jouke‐Jan Hottenga   +9 more
wiley   +1 more source

A case of severe combined pathology in a late premature infant with hypoxic-ischemic damage to the central nervous system

Медицинский вестник Юга России
A clinical observation of severe combined pathology in a newborn child with congenital hypothyroidism against the background of hypoxic-ischemic damage to the central nervous system is presented.
L. V. Kravchenko, S. B. Berezhanskaya, O. Z. Puzikova, A. A. Afonin, M. S. Kasyan, K. G. Matyukh, V. A. Popova, M. A. Levkovich, I. I. Krukier, I. V. Panova, A. V. Moskovkina, D. I. Sozaeva   +11 more
doaj   +1 more source

The Impact of Disease Activity and Medications on Pregnancy and Fetal Outcomes in Women With Inflammatory Bowel Disease: A Cohort Study From the IBD‐ME Group

Journal of Gastroenterology and Hepatology, Volume 41, Issue 1, Page 155-167, January 2026.
ABSTRACT Background Women with inflammatory bowel disease (IBD) and their children are at higher risk of adverse outcomes. The primary aim was to examine the association between IBD and adverse pregnancy outcomes. The secondary aim was to assess the impact of maternal IBD and medications used on children's outcomes.
Nahla Azzam, Majid Almadi, Heba Alfarhan, Mansour Altuwaijiri, Abdulrahman Aljebreen, Othman Alharbi, Mohammed Abaalkhail, Maryam Jaran, Abdulaziz Altamimi, Abdullah Al Theneyan, Nouf Al Turki, Lubna Alharbi, Joud A. L. Ghamdi, Amal Al Dakhil, Mahmoud Mosli   +14 more
wiley   +1 more source

Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward [PDF]

, 2014
Manjula Hettiarachchi, Sujeewa Amarasena
openalex   +1 more source

Exploring Clinical Similarities and Distinctions Between Gastroparesis and Functional Dyspepsia: A Propensity‐Matched Cohort Study

Neurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
Despite overlapping upper gastrointestinal symptoms, gastroparesis and functional dyspepsia demonstrate distinct population‐level symptom patterns, with nausea, vomiting, and bloating predominating in gastroparesis and epigastric pain in functional dyspepsia.
Sameer Rao, Vraj Shah, Rohan Karkra, Manas Gunani, Ritik Mahaveer Goyal, Ahmed Al‐Khazraji, Kaveh Hajifathalian, Amanda A. Rupert   +7 more
wiley   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Acquired ichthyosis (AI) is a rare dermatological disorder characterized by dry, scaly skin. This case involves a 67‐year‐old Hispanic male with poorly controlled diabetes mellitus (DM) who presented with generalized dryness and itchiness after diabetic ketoacidosis.
Sam Fathizadeh, Alexander D. Woods, Saul Turcios Escobar, Maria Tsoukas, Semonti Nandi   +4 more
wiley   +1 more source

Profile of Congenital Hypothyroidism in DR. Cipto Mangunkusumo Hospital [PDF]

, 2013
Dana Nur Prihadi, Frida Soesanti, Aman B Pulungan, Bambang Tridjaja, Jose RL Batubara, Jose RL Batubara   +5 more
openalex   +1 more source

Hope in Miniature: The First Case of Implantation of a “Tiny Pacemaker” in Italy as a Successful Treatment for Congenital Atrioventricular Block in a Low Birth Weight Child

Case Reports in Cardiology, Volume 2026, Issue 1, 2026.
Congenital complete atrioventricular block (CAVB) is a rare cardiac condition occurring in approximately one in 15,000 to one in 22,000 live births. Maternal autoimmune diseases, with anti‐ssA (Ro) and anti‐ssB (La) antibodies implicated in 56%–90% of cases, are primary causes.
Ferrari Paola, Limonta Raul, Malanchini Giovanni, Patanè Luisa, De Filippo Paolo, Karuna Sharma   +5 more
wiley   +1 more source

Congenital Hypothyroidism

, 2013
F Péter, Ágota Muzsnai, Rózsa Gráf
openalex   +2 more sources

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. [PDF]

, 1997
Marc Abramowicz, L Duprez, Jasmine Parma, G Vassart, Claudine Heinrichs   +4 more
openalex   +1 more source