Results 71 to 80 of about 3,553,850 (264)

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency [PDF]

Clinical Endocrinology, 2006
SummaryObjective  Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD.Design, patients and measurements  A multicentric study involving ...
Lemos, MC, Gomes, L, Bastos, M, Leite, V, Limbert, E, Carvalho, D, Bacelar, C, Monteiro, M, Fonseca, F, Agapito, A, Castro, JJ, Regateiro, F, Carvalheiro, M   +12 more
openaire   +4 more sources

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Cognitive function in patients with childhood-onset combined pituitary hormone deficiency not treated with growth hormone

Journal of Medical Science, 2016
Introduction. Growth hormone deficiency is a known factor leading to impairment of psychological performance but there are very few studies on cognitive function in adult patients with childhood-onset combined pituitary hormone deficiency (ChO-CPHD ...
Izabela Warmuz-Stangierska, Monika Gołąb, Adam Stangierski, Małgorzata Kałużna, Elvira Rak, Tamara Nowocień, Marek Ruchała, Katarzyna Ziemnicka   +7 more
doaj   +1 more source

Lack of normal MR enhancement of the pituitary gland: findings in three siblings with combined pituitary hormone deficiency

, 1998
We present the MR appearance of the sella turcica in three sibling dwarfs with combined pituitary hormone deficiency in which MR images revealed a peripheral curvilinear band of enhancement about the pituitary gland in all three patients, a normal-size ...
Falcone, S, Sanchez, J, Quencer, R M
core   +2 more sources

Assessing the Mucosal Inflammatory Endotype of Obesity in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory syndrome of the paranasal sinuses that is defined phenotypically as either with nasal polyps (CRSwNP) or without nasal polyps (CRSsNP). More recently, inflammatory markers have been used to cluster patients into putative endotypes that are presumed to have a common ...
Jeffanie W. Gayoso, Li‐Ching Huang, Quanhu Sheng, Daniel Lofgren, Ping Li, Katherine Cahill, Mason Krysinski, Rakesh K. Chandra, Justin H. Turner, Naweed Chowdhury   +9 more
wiley   +1 more source

The neuropsychological effects of pituitary macroadenomas and their treatment [PDF]

, 2005
Pituitary adenomas account for roughly 12% of all intracranial tumours and are treated either surgically or medically. Due to the prevalence, there have been many articles focusing on their treatment.
Mark, Daniella
core   +1 more source

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency [PDF]

European Journal of Endocrinology, 2016
Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules.
Castinetti, Frederic, Reynaud, Rachel, Saveanu, Alexandru, Jullien, Nicolas, Quentien, Marie Helene, Rochette, Claire, Barlier, Anne, Enjalbert, Alain, Brue, Thierry   +8 more
openaire   +4 more sources

Baihe Zhimu Decoction ameliorates anxious depression via PI3K/AKT/mTOR pathway‐mediated neuroprotection and inhibition of hippocampal neuronal apoptosis

Animal Models and Experimental Medicine, EarlyView.
Baihe Zhimu Decoction alleviates anxious depression‐like behaviors and protects hippocampal neurons. Chemical profiling and network pharmacology reveal multiple active components acting via the PI3K/AKT/mTOR pathway, enhancing neuronal survival and function, as confirmed by multi‐level in vitro and in vivo validation.
Yuanshan Han, Kexin He, Haolan Yang, Jiacheng Dai, Ronglin Chen, Yang Liu, Yuhong Wang, Lin Tang, Hongqing Zhao   +8 more
wiley   +1 more source

Genetics of growth hormone deficiency

, 2007
When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH ...
Mullis, Primus E, Mullis PE, Mullis, Primus-Eugen   +2 more
core   +1 more source

Hormonal control and signaling of the testis of the bat Molossus molossus during the processes of testicular maturation, regression, and recrudescence

The Anatomical Record, EarlyView.
Abstract Molossus molossus, a species of neotropical bat belonging to the Molossidae family, has an annual reproductive cycle that includes two peaks of spermatogenic activity, one in April and another in September, and a period of total testicular regression in December.
Emília M. Soares, Juliana F. Ferraz, Cornélio S. Santiago, Larissa P. R. Venâncio, Arlindo G. Macedo‐Junior, Sebastião R. Taboga, Mateus R. Beguelini   +6 more
wiley   +1 more source