Introduction: related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.
Clinical Description: Both sisters had neonatal onset hypotonia, muscle weakness, and delayed walking.
Aims: To assess the diagnostic performance of digital breast tomosynthesis (DBT) in older women across varying breast densities and to compare its effectiveness for cancer detection with 2D mammography and ultrasound (U/S) for different breast density categories. Furthermore, our study aimed to predict the potential reduction in unnecessary additional examinations among older women due to DBT.
Methods: This study encompassed a cohort of 224 older women.
Study Design: Retrospective study.
Objective: To describe the MRI findings of RNRs in patients with low back pain, and observe the imaging findings and the clinical outcome post decompression surgery.
Methods: The lumbar spine MRI of 202 patients (122 females) with proven RNRs were retrospectively reviewed.
Eur J Radiol Open
September 2020
Congenital diaphragmatic hernia (CDH) is one of the most common anomalies in neonates. Diaphragmatic agenesis (DA) is rare and is considered at the extreme spectrum of CDH, it is associated with a higher rate of multiple anomalies. A male neonate with antenatal diagnosis of CDH and hydrocephalus was born at estimated gestational age of 36 + 4 weeks by emergency Caesarean section due to fetal distress.
View Article and Find Full Text PDFBackground: Chest CT scan and chest x-rays show characteristic radiographic findings in patients with COVID-19 pneumonia. Chest x-ray can be used in diagnosis and follow up in patients with COVID-19 pneumonia. The study aims at describing the chest x-ray findings and temporal radiographic changes in COVID-19 patients.
View Article and Find Full Text PDFBackground: Early diagnosis and management of subclinical hypothyroidism (SCH) are important to avoid the risk of developing overt hypothyroidism. This study aimed to evaluate patients with subclinical hypothyroidism (SCH), in regard to their biochemical characteristics, and ultrasound features, and factors associated with initiating treatment for this condition.
Methods: This was a retrospective study, which reviewed the data of patients who visited the Endocrinology clinic of a tertiary hospital in Jordan, King Abdullah University Hospital.
Background: Myxoma is a relatively rare mesenchymal tumor seen mainly in the heart and skin. Renal myxomas in particular are exceptionally rare where only 17 cases were previously reported in the English Language literature. Only 2 of the 17 reported cases were located in the renal sinus/pelvis.
View Article and Find Full Text PDFThe vermiform appendix is considered the most mobile organ in the human body. Due to its various positions in the abdomen and pelvis, it may result in confusion in diagnosis to the surgeons when it becomes inflamed. Atypical locations of the appendix have been reported previously in the literature.
View Article and Find Full Text PDFBACKGROUND Intracranial chondroma is a rare benign tumor that more commonly arises from the skull base. Chondroma arising from the falx cerebri is very rare, with only 19 cases previously reported in the literature. The imaging characteristics of intracranial chondroma and meningioma can be similar.
View Article and Find Full Text PDFIntroduction: Impacted foreign bodies in the esophagus have the potential to cause serious complications. Ingested sharp objects carry the risk of acute complications as: perforation, acute mediastinitis, and acute bleeding. Rarely, such foreign bodies might migrate through the esophageal wall and present as chronic esophageal foreign body.
View Article and Find Full Text PDFBackground: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations.
View Article and Find Full Text PDFPurpose: Our study aims to assess the clinical relevance of fluorine-18 fluorodeoxyglucose (F-FDG) negative osteoblastic metastatic bone lesions noted on PET/computed tomography (CT) in breast cancer patients.
Patients And Methods: The medical records of breast cancer patients were reviewed retrospectively from January 2012 until April 2015. We included the patients who had metastatic bone disease evaluated by F-FDG-PET/CT.
Background: The growth of the liver and spleen is a dynamic process in children, and is related to the somatic parameters of the child, and may be affected by many diseases in children. It is of paramount importance to have standard reference values for the size of these organs for diagnostic and prognostic purposes. The aim of our study was to provide practical and reliable normal reference values for the size of the liver and spleen in children and to correlate the values with age, height, and weight.
View Article and Find Full Text PDFAlveolar soft part sarcoma (ASPS), a rare soft tissue sarcoma in children and adolescents, carries a poor prognosis. ASPS is an aggressive tumor of controversial histogenesis that, unlike other soft tissue sarcomas, tends to metastasize to the brain. A 9-year-old boy presented to our outpatient clinic in April 2009 with a chief complaint of a large painless mass in the left thigh whose size had increased significantly over the past 10 months.
View Article and Find Full Text PDFIntroduction: The aim of this study is to assess the safety and the efficacy of radiofrequency ablation (RFA) of osteoid osteoma with Soloist monopolar electrode using tissue impedance, rather than temperature, as an indicator of osteonecrosis.
Methods: The medical records and imaging studies of 30 patients (males 18, females 12) who underwent RFA of osteoid osteoma at our institution were reviewed. The mean age of the patients was 15.