Results 101 to 110 of about 416,939 (310)

Pituitary apoplexy: a rare cause of middle cerebral artery infarction [PDF]

, 2013
Pituitary apoplexy is a well-known complication of a pituitary adenoma. However, an ischaemic event caused by pituitary apoplexy is rare. We reported a case of pituitary apoplexy with middle cerebral artery infarction in a 44-year old man who ...
Abu Bakar, Azizi, Sharis Osman, Syazarina, Hassan, Radhiana, Mohamed Mukari, Shahizon Azura   +3 more
core  

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

G protein mutations in pituitary tumors: a study on Turkish patients

, 2003
Activating mutations of the G proteins, Gsalpha (gsp) and Gi2alpha (gip) have been reported in subsets of pituitary tumors. The objective of the study was to assess the frequency of gsp and gip mutations in pituitary tumors from Turkish patients and to ...
NACAR, CEVDET
core   +3 more sources

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Pituitary headache

, 2015
The ready access to brain imaging has resulted in an increased detection of incidentally discovered pituitary lesions. Radiological and post mortem studies report the prevalence of pituitary incidentalomas to be as high as 10%.1 Exclusion of secondary ...
Miles J Levy
core   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier, David Remyes, Tenesha Boyd, Ailish Nagpal, Aman M Patel, David W. Wassef, Jean Anderson Eloy   +6 more
wiley   +1 more source

Childhood maltreatment, pituitary volume and adolescent hypothalamic-pituitary-adrenal axis – Evidence for a maltreatment-related attenuation

, 2018
Childhood maltreatment, pituitary volume and adolescent hypothalamic-pituitary-adrenal axis – Evidence for a maltreatment-related ...
L O'Brien-Simpson (22758140), S Whittle (13363980), NB Allen (14462007), M Kaess (13448217), JG Simmons (14462010)   +4 more
core  

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Long-term treatment outcomes of acromegaly patients presenting biochemically-uncontrolled at a tertiary pituitary center

BMC Endocrine Disorders, 2017
Background Acromegaly is a rare, slowly progressive disorder resulting from excessive growth hormone (GH) production by a pituitary somatotroph tumor.
John D. Carmichael, Michael S. Broder, Dasha Cherepanov, Eunice Chang, Adam Mamelak, Qayyim Said, Maureen P. Neary, Vivien Bonert   +7 more
doaj   +1 more source