Results 91 to 100 of about 552,864 (311)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Disulfiram mediates anti-tumor effect in pituitary neuroendocrine tumor by inducing Cuproptosis

open access: yesBrain and Spine, 2023
Ning Huang   +6 more
doaj   +1 more source

Management of Intracranial Perforator Aneurysms

open access: yesStroke: Vascular and Interventional Neurology
Intracranial perforator aneurysms are rare but potentially life‐threatening vascular lesions that can lead to subarachnoid hemorrhage. Initial imaging is frequently negative, so a high level of suspicion is important for efficient detection of perforator
Karthik Papisetty   +3 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

3D Facial Analysis in Acromegaly: Gender-Specific Features and Clinical Correlations

open access: yesFrontiers in Endocrinology, 2018
Objective: Quantitative investigations of facial changes in acromegaly are rare. A new imaging technique, three-dimensional (3D) stereophotography, can accurately quantify whole facial changes.
Xiaopeng Guo   +21 more
doaj   +1 more source

Effects of centrifugation on gonadal and adrenocortical steroids in rats [PDF]

open access: yes
Many endocrine systems are sensitive to external changes in the environment. Both the pituitary adrenal and pituitary gonadal systems are affected by stress including centrifugation stress.
Butte, J. C., Kakihana, R.
core   +1 more source

Glycometabolic Alterations in Secondary Adrenal Insufficiency: Does Replacement Therapy Play a Role? [PDF]

open access: yes, 2018
Secondary adrenal insufficiency (SAI) is a potentially life-threatening endocrine disorder due to an impairment of corticotropin (ACTH) secretion from any process affecting the hypothalamus or pituitary gland.
Gianfrilli, Daniele   +5 more
core   +2 more sources

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel   +13 more
wiley   +1 more source

The role of stereotactic radiosurgery in the multimodal management of growth hormone–secreting pituitary adenomas [PDF]

open access: yes, 2010
Growth hormone (GH)–secreting pituitary adenomas represent a common source of GH excess in patients with acromegaly. Whereas surgical extirpation of the culprit lesion is considered first-line treatment, as many as 19% of patients develop recurrent ...
Liu, Charles Y.   +2 more
core   +1 more source

Pituitary Tumors [PDF]

open access: yesEndocrinology and Metabolism Clinics of North America, 2015
Pituitary tumors are commonly encountered intracranial neoplasms that are invariably benign. Classic oncogene mutations are not encountered in these tumors, and disrupted cell cycle control and growth factor signaling likely contribute to pathogenesis and natural history.
openaire   +2 more sources

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