Results 151 to 160 of about 4,792,921 (311)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi   +10 more
wiley   +1 more source

Efficacy of surgical treatment of renal form of hyperparathyroidism [PDF]

open access: yesСаратовский научно-медицинский журнал, 2018
Objective: to study the efficacy of surgical treatment of primary hyperparathyroidism in risk of uronephrolithiasis progression. Material and Methods. The research involved 55 patients, the biochemical and clinical parameters before and after treatment ...
Kovalenko Yu.V.   +4 more
doaj  

The Diagnostic Accuracy of High Resolution Ultrasound Imaging for Detection of Secondary Hyperparathyroidism in Patients with Chronic Renal Failure [PDF]

open access: yes
Ultrasound is one of the preferred modalities for evaluation of the parathyroid glands. This study was undertaken to determine the accuracy of high resolution ultrasound for secondary hyperparathyroidism in patients with chronic renal failure. From March
اناری, حسن   +3 more
core  

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

The First Manifestation of Hyperthyroidism with Deep Vein Thrombosis: A Case Report

open access: yesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2015
Background and Objectives:Primary hyperparathyroidism is a relatively common endocrine disease in which one or more parathyroid glands produce uncontrolled secretion of parathormone (PTH).
Mahmood Parham   +2 more
doaj  

Plasma insulin disturbances in primary hyperparathyroidism [PDF]

open access: bronze, 1971
Hak‐Joong Kim   +4 more
openalex   +1 more source

Hyperparathyroidism and hyperfunctioning supernumary glands : considerations for challenging management [abstract] [PDF]

open access: yes, 2010
Hyperparathyroidism can be treated surgically with high success rates. While the majority of patients have four glands, the presence of a supernumerary gland may be encountered as a normal anatomic variant in up to 13% of the population.
Page, Matthew, Showmaker, Jason
core  

The diagnostic challenges of medullary thyroid carcinoma: A practical guide for cytopathologists

open access: yesCancer Cytopathology, Volume 133, Issue 6, June 2025.
Abstract Medullary thyroid carcinoma (MTC) is a rare but potentially aggressive neuroendocrine tumor arising from the thyroid C cells (parafollicular cells) that produce calcitonin, representing 1%–3% of thyroid malignancies but contributing to up to 15% of thyroid cancer‐related deaths.
Marc P. Pusztaszeri, Zahra Maleki
wiley   +1 more source

Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1

open access: yesInternational Journal of Endocrinology, 2010
Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1).
Grzegorz Piecha   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy