16 results match your criteria: "King Fahd Hospital of University[Affiliation]"

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Am J Hum Genet

November 2024

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

Article Synopsis
  • - WDR83OS encodes a protein called Asterix, which works with another protein, CCDC47, to help fold large proteins correctly, specifically those with transmembrane domains.
  • - Recent findings linked mutations in CCDC47 and WDR83OS to trichohepatoneurodevelopmental syndrome, showing consistent symptoms like neurodevelopmental disorders, facial dysmorphism, and liver dysfunction across multiple families.
  • - A zebrafish model lacking Wdr83os function demonstrated its crucial role in the nervous system and lipid absorption, further establishing a connection between WDR83OS mutations and neurological diseases characterized by elevated bile acids.
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Background: Neonates and children are more susceptible to a variety of infections, leading to frequent antibiotic prescriptions. However, the inappropriate use of antibiotics leads to antibiotic resistance and higher mortality rates. Therefore, this study aimed to determine the prevalence of antibiotic use, and current antibiotic prescribing practices among neonates and children admitted in the selected hospitals of Saudi Arabia.

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Article Synopsis
  • The CDC and ACIP endorse COVID-19 vaccination for patients with inborn errors of immunity (IEI), but there's limited knowledge on its safety and impact on infection severity in these patients.
  • A study involving a registry of 1,245 IEI patients across 24 countries was conducted to gather data on vaccination frequency, safety, and effectiveness, revealing that 64.7% were vaccinated, primarily with mRNA vaccines.
  • Results showed that vaccinated patients had significantly lower hospitalization and ICU admission rates when infected with COVID-19, indicating that vaccination is both safe and effective in reducing the severity of the disease in IEI patients.
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Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report.

J Med Case Rep

December 2023

Department of Pathology, King Fahd Hospital of University, College of Medicine, Imam Abdulrahman Bin Faisal University, Khobar, Saudi Arabia.

Background: Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney-Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1.

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To compare cardiovascular risk factors in patients with epilepsy with those of non-epileptic neurologic patients to determine their association with antiepileptic drug therapy. This observational study with a cross-sectional design was performed in a tertiary care hospital in the Eastern Province of Saudi Arabia from January to December 2018. A total of 110 patients with epilepsy were included in the study, along with 46 age- and sex-matched non-epileptic controls (approximate ratio of 2:1).

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BACKGROUND Pilocytic astrocytoma is a low-grade glioma that is common in children. Pilocytic astrocytoma is a slow-growing neoplasm that may calcify and occurs throughout the central nervous system, but it has a preference to be located infratentorial in children. CASE REPORT Herein, we report an unusual intraventricular location of pilocytic astrocytoma with extensive calcification in a 37-year-old Saudi man who mainly presented with a headache.

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Etiologic and Clinical Features of Cerebral Venous Sinus Thrombosis in Saudi Arabia.

J Neurosci Rural Pract

January 2019

Department of Medicine, Division of Neurology, 7-112L Clinical Sciences Building, University of Alberta, Edmonton, Canada.

Objective: Our study aims to evaluate the etiologic and clinical features of cerebral venous sinus thrombosis (CVST) in Saudi Arabia, and secondarily whether gender plays a role in CVST.

Materials And Methods: Data were collected retrospectively from the stroke registry during the period from January 2008 to April 2018, and the patients with the diagnosis of CVST were identified, and data were analyzed for any gender-specific differences in clinical presentation and etiology of cerebral venous thrombosis.

Results: There were 15 females while 11 males with a female:male ratio of 1.

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Background: Hyalinizing clear cell carcinoma (HCCC) is a rare low-grade tumour of salivary glands that was first described as a distinct entity in 1994 by Milchgrub et al. EWSR1-ATF1 fusion was found to be specific for this tumour. The majority of the reported cases of HCCC arise from minor salivary glands within the oral cavity.

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Post bariatric Surgery Acute Axonal Polyneuropathy: Doing Your Best is Not Always Enough.

Ann Indian Acad Neurol

January 2017

Department of Neurology, College of Medicine, University of Dammam, King Fahd Hospital of University, Al Khobar, Kingdom of Saudi Arabia.

Neurological complications are frequently recognized with weight reduction surgeries for morbid obesity. The spectrum of peripheral neuropathies complicating the weight loss surgery is wide, and among them, the acute axonal peripheral neuropathy resembling Guillain-Barre syndrome is rare and only less than a dozen cases are reported. We present three cases, which after bariatric surgery developed acute polyneuropathy that rapidly progressed over 4 weeks from the onset.

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Objective: To provide a systematic review of the clinical and radiological features of lesion-induced central positional nystagmus (CPN) and identify salient characteristics that differentiate central from peripheral positional nystagmus (PN).

Methods: Systematic literature search according to the preferred reporting items for systematic reviews and meta-analysis.

Results: A total of 82 patients from 28 studies met the participants intervention, comparison, outcomes, and study designs criteria for inclusion.

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Malignant gastrointestinal neuroectodermal tumor: a case report and review of the literature.

Diagn Pathol

March 2017

Department of Pathology and Laboratory Medicine, King Fahd Hospital of University, College of Medicine, University of Dammam, Dammam, Saudi Arabia.

Background: Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare entity that was first described by Zambrano et al. in 2003 as "Clear cell sarcoma-like tumor of the gastrointestinal tract". It shares some of the histological features of clear cell sarcoma (CCS) but lacks the immunohistochemical reactivity for melanocytic markers.

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Juvenile psammomatoid ossifying fibroma (JPOF) is a rare, slowly progressive tumor of the extragnathic craniofacial bones, with a tendency toward locally aggressive behavior and recurrence. The pathognomonic histopathologic feature is the presence of spherical ossicles, which are similar to psammoma bodies. Very few cases in association with secondary aneurysmal bone cyst (ABC) formation have been reported in literature.

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Background: Faculty development lays the foundation for the quality enhancement in medical education. However, programs are not always based on the needs of the participants, and there is dearth of information on methods to derive faculty's needs. The Medical Education Unit at the University of Dammam, Saudi Arabia, carried out an innovative method to identify and prioritize faculty needs in order to plan future activities.

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Is there a relationship between body mass index and serum vitamin D levels?

Saudi Med J

December 2009

Department of Internal Medicine, College of Medicine, King Faisal University, Dammam, and King Fahd Hospital of University, Al-Khobar, Kingdom of Saudi Arabia.

Objective: To evaluate the relationship between vitamin D level and body mass index (BMI) among Saudi Arabian citizens.

Methods: Four hundred healthy individuals aged > or =25 years (200 males and 200 females) were included in this cross-sectional study. Subjects were recruited in the period between 1st February 2008 and 31st May 2008 from the medical staff and employees of King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia, and from patients attending the endocrinology, orthopedic, and infertility clinics at the same hospital.

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Thirty-four cases of inherited bleeding disorders are reported. All are Saudi patients from the Eastern Province of Saudi Arabia. There were 15 haemophiliacs, 1 factor VII deficiency, 1 factor X deficiency, 12 Glanzmann's thrombasthenia, and 5 unidentified platelet function disorders.

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