Co-occurring Usher syndrome Type 1 and Renal Failure.

Purpose: To describe a patient with a rare co-occurrence of Usher syndrome type 1C (USH1C) and renal disease, suspected to be secondary to Alport syndrome.

Method: Case report and literature review of cases with Usher syndrome and renal failure. Clinical examination, color fundus photography, visual field tests, electroretinography and whole exome sequencing were used to diagnose and document the patient's clinical presentation.

Insulin resistance induced by de novo pathway-generated C16-ceramide is associated with type 2 diabetes in an obese population.

Background: Obesity and diabetes are two chronic metabolic diseases whose prevalence is increasing at an alarming rate globally. A close association between obesity, diabetes, and insulin resistance has been identified, and many studies have pinpointed obesity as a causal risk factor for insulin resistance. However, the mechanism underlying this association is not entirely understood.

Using a Deep Learning Model to Explore the Impact of Clinical Data on COVID-19 Diagnosis Using Chest X-ray.

The coronavirus pandemic (COVID-19) is disrupting the entire world; its rapid global spread threatens to affect millions of people. Accurate and timely diagnosis of COVID-19 is essential to control the spread and alleviate risk. Due to the promising results achieved by integrating machine learning (ML), particularly deep learning (DL), in automating the multiple disease diagnosis process.

Eye and ocular adnexa manifestations of -related disorders.

Background: -related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. The gene encodes the largest component of the mediator complex of RNA polymerase II, which is critical for recruiting activators and repressors to regulate the transcription of genes critical to growth, development, and differentiation.

Determinants of time-to-disposition in patients who underwent CT for pulmonary embolism: a retrospective study.

Background: Pulmonary embolism (PE) is a common life-threatening medical emergency that needs prompt diagnosis and management. Providing urgent care is a key determinant of quality in the emergency department (ED) and time-based targets have been implemented to reduce length of stay and overcrowding. The study aimed to determine factors that are associated with having a time-to-disposition of less than 4 h in patients with suspected PE who underwent computed tomography pulmonary angiography (CT-PA) to confirm the diagnosis.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective: To identify the genetic variants associated with juvenile ALS.

Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.

A Rare Presentation of Lisegang Rings in Adrenal Cavernous Hemangioma : Case Report and Literature Review.

Background: Adrenal cavernous hemangiomas (AH) are benign nonfunctional vascular tumors rarely discovered as incidental findings on imaging studies or autopsies. This study presents a single case report of AH with another rare finding of the Liesegang ring. Also, we reviewed 73 case reports of cavernous adrenal hemangioma to provide an overview of AH's clinical characteristics.

Jejunal Volvulus Around Gastrostomy Tube: An Exceptional Complication in Cerebral Palsy.

BACKGROUND Cerebral palsy may be accompanied by gastrointestinal disorders. Percutaneous endoscopic gastrostomy (PEG) tube placement is an increasingly performed procedure in these patients. While PEG tube feeding can result in weight gain and a decrease in aspiration episodes, this insertion of a PEG tube is not without complications.

Fulminant hepatic failure in a patient testing re-positive for SARS-CoV-2: a case report.

Background: Infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may not elicit lifelong protective immunity and reinfection could occur. Liver function impairment is a common manifestation of coronavirus disease 2019 (COVID-19). However, acute hepatic failure in the setting of COVID-19 is very rare.

Family medicine residents' skill levels in emergency chest X-ray interpretation.

Background: Family medicine physicians may encounter a wide variety of conditions, including acute and urgent cases. Considering the limited access to diagnostic investigations in primary care practice, chest X-ray remains the imaging modality of choice. The current study assessed the competency of family medicine residents in the interpretation of chest X-rays for emergency conditions and to compare it with that of diagnostic radiology residents, general practitioners, and medical interns.

Sclerosing Encapsulating Carcinomatous Peritonitis: A Case Report.

Sclerosing encapsulating peritonitis (SEP) is a rare clinical condition characterized by the formation of a thick, fibrous membrane encasing the intestines, which may lead to intestinal obstruction. The pathogenesis is not completely understood, but various risk factors are well established. However, there are only few reported cases of SEP associated with peritoneal carcinomatosis.

Concomitant hepatic tuberculosis and hepatocellular carcinoma: a case report and review of the literature.

Background: Hepatocellular carcinoma (HCC) is the most common primary liver malignancy that is strongly associated with chronic liver disease. Isolated hepatic tuberculosis is an uncommon type of tuberculosis. Concomitant occurrence of both conditions is extremely rare.

Clinical and imaging profiles of pulmonary embolism: a single-institution experience.

Background: Pulmonary embolism (PE) is a common life-threatening condition with non-specific clinical presentations. The diagnosis of PE depends highly on imaging studies, which may also provide prognostic information. This study aimed to describe the clinical and imaging profiles of patients with PE, emphasizing the differences between central and peripheral PE.

Physical exercise among radiologists in Saudi Arabia: a cross-sectional study.

Background: The practice of clinical radiology has become more sedentary in the era of the Picture Archiving and Communication System. Physical inactivity is a well-known risk factor for various chronic diseases. This study aimed to determine the frequency and pattern of physical exercises among radiologists in the Eastern Province of Saudi Arabia and the association between physical exercises and the prevalence of work-related musculoskeletal symptoms.

Digital Eye Strain Among Radiologists: A Survey-based Cross-sectional Study.

Background: Computers have become a fundamental part of clinical radiology departments. Radiologists tend to spend long hours in front of computers, reading and analyzing medical images. This prolonged use of computers is associated with digital eye strain.

Predictors of positive computed tomography pulmonary angiography results.

Purpose: Computed tomography pulmonary angiography (CT-PA) is the diagnostic modality used for pulmonary embolism (PE). This study aimed to estimate the positive CT-PA rate and identify the predictors of positive CT-PA results.

Methods: A retrospective observational study was conducted by examining the CT-PA data for ruling out PE in all adult patients who visited the King Fahd Hospital of Imam Abdulrahman Bin Faisal University.

Gliosarcoma case report and review of the literature.

Gliosarcoma is an unusual subtype of glioblastoma multiforme. Its characteristic features are biphasic configuration, constituting a definite, separate glial and sarcomatous differentiation, on histological evaluation. Herein, we present a rare case of Gliosarcoma that had presented only once in our center in last 13 years.

Splenosis of the Mesoappendix with Acute Appendicitis: A Case Report.

BACKGROUND Splenosis is a benign condition involving the auto-transplantation of splenic tissue at various locations, resulting from splenic injury or splenectomy. CASE REPORT A 40-year-old male, with a history of remote exploratory laparotomy with splenectomy secondary to blunt abdominal trauma, presented with symptoms consistent with acute appendicitis, which was subsequently confirmed by computed tomography scan of the abdomen that further demonstrated the presence of multiple abdominal nodules, one of which was adjacent to the appendix. A laparoscopic appendectomy was then performed along with resection of the nodule located in the mesoappendix, which was confirmed to be a splenic tissue based on histopathological examination.

The accuracy of computed tomography in detecting surgically resectable blebs or bullae in primary spontaneous pneumothorax.

Objectives: Chest computed tomography is commonly used in patients with primary spontaneous pneumothorax to detect the presence of pulmonary blebs or bullae. The aim of this study is to calculate the accuracy of chest computed tomography to detect surgically resectable blebs or bullae in patients with primary spontaneous pneumothorax.

Methods: This is a retrospective study includes all patients with primary spontaneous pneumothorax who underwent chest computed tomography evaluation for their disease over the period from January 2005 to December 2015.

Multiloculated Cavitary Primary Pulmonary Hodgkin Lymphoma: Case Series.

Primary pulmonary Hodgkin lymphoma (PPHL) is very rare and typically involves the superior portion of the lung. Pulmonary involvement is observed in 15-40% of Hodgkin lymphoma patients. Three such patients who presented with an unusual form of PPHL in radiological studies, i.

Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax?

Introduction: Patients with primary spontaneous pneumothorax (PSP) rarely presented with radiological signs of tension pneumothorax on their presenting chest X-ray. Even though, those patients may not develop the hemodynamic instability that is seen in tension pneumothorax. The aim of this study is to elaborate whether the presence of radiological signs of tension pneumothorax in patients with PSP will affect their clinical presentation.