Germline Variants in Sporadic Pituitary Adenomas.

Context: Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited.

Objective: This study investigated the germline genetic variants in patients with PAs using WES.

Methods: We studied 134 consecutive functioning (80.

Assessment of knowledge and prevalence of fibromyalgia among medical students and physicians in Riyadh region.

Background: Fibromyalgia is a chronic condition that is characterized by widespread musculoskeletal pain and tenderness of soft tissue. The prevalence of FM in Saudi Arabia is not known. The diagnosis of FM is mainly clinical.

Assessing the Degree of Gastroesophageal Reflux Disease (GERD) Knowledge Among the Riyadh Population.

Background Gastroesophageal reflux disease (GERD) is a chronic disease mainly characterized by heartburn and acid regurgitation. To our knowledge, there have been a limited number of studies in Saudi Arabia looking at the knowledge level among the general population regarding this disease and its associated factors. Therefore, this study aims to identify the knowledge level of the disease and its associated factors, assess the prevalence of GERD among the Riyadh general population, and assess the need for educational programs for GERD.

An Institutional Experience of Tumor Progression to Pituitary Carcinoma in a 15-Year Cohort of 1055 Consecutive Pituitary Neuroendocrine Tumors.

Pituitary carcinoma is a rare disease, defined by the presence of cerebrospinal or distant metastasis of a pituitary neuroendocrine tumor (PitNET). To review our institutional experience of pituitary carcinoma, we searched the database of the UHN Endocrine Oncology Site group and the University Health Network pathology laboratory information system from 2001 to 2016. Among 1055 PitNETs from 1169 transsphenoidal resections, we identified 4 cases of pituitary carcinoma, indicating that pituitary carcinoma represents around 0.

Synchronous Multiple Pituitary Neuroendocrine Tumors of Different Cell Lineages.

We report clinicopathological features of a large series of synchronous multiple pituitary neuroendocrine tumors (PitNETs) of different cell lineages. Retrospective review of pathology records from 2001 to 2016 identified 13 synchronous multiple PitNETs from 1055 PitNETs classified using pituitary cell-lineage transcription factors, adenohypohyseal hormones, and other biomarkers. Clinical, radiological, and histopathological features of these tumors were reviewed.

Pancreatic Neuroendocrine Tumor Producing Insulin and Vasopressin.

The objective of the study is to report a rare case of pancreatic neuroendocrine tumor (pNET) producing insulin and vasopressin. We describe the clinical presentation and management of a metastatic pNET with refractory hypoglycemia and progressive severe hyponatremia. A 52-year-old patient had abdominal pain leading to the diagnosis of a tumor that was initially presumed to be splenic in origin.

Correlation between obesity and sleep disturbance in Saudi medical students.

[Purpose] The aim of the present study was to investigate the association between sleep duration, quality and obesity in the medical students of Saudi population. [Subjects and Methods] This is a cross-sectional study carried out in 408 medical students from King Khalid University Hospitals, Riyadh, Saudi Arabia, based on well-designed questionnaire study and consent form. [Results] The results of this study revealed 39.

Diagnostic value of recombinant human thyrotropin-stimulated ¹²³I whole-body scintigraphy in the follow-up of patients with differentiated thyroid cancer.

Purpose: Published data on recombinant human thyrotropin- (rhTSH-) stimulated iodine-123 (¹²³I) diagnostic whole-body scintigraphy (DxWBS) in differentiated thyroid cancer (DTC) surveillance after initial treatment are limited. We sought to evaluate this modality's diagnostic value in this setting.

Materials And Methods: We retrospectively compared rhTSH-stimulated ¹²³I DxWBS results with DTC status concurrently determined by stimulated serum thyroglobulin (Tg) measurement, neck ultrasonography, and other imaging studies.

Paget disease of the bone: does it exist in Saudi Arabia?

Paget disease of the bone is a chronic disease characterized by accelerated bone turnover with abnormal repair leading to expansion, pain and deformities. The disease is common in the West, but little if any information is available on its existence in the Arab world, including Saudi Arabia. We present four cases of Saudi patients with Paget disease with variable presentations.

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.

Context: Mutations in the CYP27B1 gene, which encodes vitamin D 1alpha-hydroxylase, are the genetic basis for vitamin D-dependent rickets type 1 (VDDR-I).

Objective: The aim of this study was to investigate the CYP27B1 mutation in a large family with VDDR-I and characterize the genotype-phenotype correlation.

Patients And Methods: The index patient was a 23-yr-old female who had a progressive form of rickets and growth retardation since the age of 9 months.

Multiple paraganglioma syndrome type 4 due to succinate dehydrogenase B mutation: diagnostic and therapeutic challenges of a skull base paraganglioma masquerading as nasopharyngeal cancer.

Objective: To report a case of hereditary paraganglioma and describe the underlying genetic mutation and response to iodine 131 metaiodobenzylguanidine (MIBG) therapy.

Methods: We describe the clinical course and laboratory and imaging findings of the study patient.

Results: A 38-year-old man presented in May 2005 with pseudobulbar palsy and was initially thought to have nasopharyngeal cancer because computed tomography of the head showed a large, locally invasive nasopharyngeal tumor.

Unusual cause of ectopic secretion of adrenocorticotropic hormone: Cushing syndrome attributable to small cell prostate cancer.

Objective: To report a rare cause of ectopic adrenocorticotropic hormone (ACTH) secretion leading to severe Cushing syndrome.

Methods: We describe the clinical presentation and management of a case of Cushing syndrome attributable to ectopic ACTH secretion from small cell cancer of the prostate.

Results: In a 70-year-old man with hypertension and diabetes, congestive heart failure developed.