A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report.

INTRODUCTION AND IMPORTANCE: Cohen's syndrome is a rare autosomal recessive developmental disorder. It usually presents with a wide variety of muscular, neurological and ophthalmological clinical features. In this report, we present a rare case of the first Jordanian male identical twin with Cohen syndrome with the first ever muscle biopsy results reported. CASE PRESENTATION: A 20 months old identical male twins were presented for follow up with history of Salam seaziure, muscle dystocia and signs of development delay since five months old. A muscle biopsy and genetic analysis were done accordingly. Under light microscopy, the H&E and Trichome stains sections showed muscle fibers with minimal variation in muscle fiber size. No muscular degeneration, fat replacement, or fibrosis in the periendomysial area. Increased fibroblasts proliferation was seen in between the muscle fibers. The Dystrophy panel including Dystrophin, Dysferlin, Adhalin (alpha 1 sacroglycan) and Emerin showed a normal staining pattern. The heterozygous mutation pattern seen in the vacuolar protein sorting 13 homolog B (VPS13B) gene is a pathogenic variant of Cohen syndrome. The diagnosis was done accordingly. CONCLUSION: To the best of our knowledge, this is the first case report of Cohen's syndrome from the Jordanian population, and the first muscle biopsy report in a Cohen's syndrome patient ever. This makes a unique educational report and a good guidance for future research in this concern.

The epidemiology of lymphoma in Jordan: A nationwide population study of 4189 cases according to World Health Organization classification system.

OBJECTIVE/BACKGROUND: Lymphoma is a common human cancer that shows a variable geographic incidence worldwide. It is the fourth most common cancer in Jordan. Systemic reports of descriptive epidemiology on lymphoma from the Middle East are limited. METHODS: A nationwide multi-institutional retrospective study was conducted covering all major hospitals and laboratories that provide diagnostic services. We collected data on all cases diagnosed with lymphoma between 2014 and 2019. The included variables were patients' age, gender, anatomic site, and the histologic type according to the World Health Organization classification system. RESULTS: A total of 4189 cases were diagnosed with lymphoma. There was a statistically significant gender difference (p < .05), as 57.5% of patients were males. The peak incidence occurred at age 25-55 years. There were 1,652 (39%) cases of Hodgkin lymphoma (HL) and 2,537 (61%) of non-Hodgkin lymphoma (NHL), where nodular sclerosis (67%) and diffuse large B-cell lymphoma (53%) were the most common subtypes, respectively. The average age-adjusted incidence rates per 100,000 population were 8.01 for all lymphomas, 4.33 for NHL, and 3.16 for HL and all remained stable over the 6 years. CONCLUSION: HL is the most common lymphoma in Jordan, with a percentage higher than most of reported studies in Asian and Western countries. It also shows a unimodal distribution of age-specific incidence rates, with a single peak in young adults. The incidence rate of HL is higher than Eastern countries but comparable to the West. In contrast, NHL demonstrates a lower incidence rate than Western countries but a similar distribution of subtypes, as mature T/natural killer-cell lymphomas were rare.

Immunoglobulin G4-Related Hypertrophic Pachymeningitis of the Spine: A Case Report and Systematic Review of the Literature.

BACKGROUND: Spinal immunoglobulin G4-related hypertrophic pachymeningitis (IgG4-HP) is a rare disease. Little information is known regarding the diagnosis, management, and prognosis of patients with spinal IgG4-HP. METHODS: The authors present a case of spinal IgG4-HP with a systematic review of the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Relevant studies (up to April 2020) that reported patients with spinal IgG4-HP, based on the criteria of Japan College of Rheumatology, were identified from the PubMed and Cochrane Library databases. RESULTS: This systematic review identified 33 patients, including the present case, of whom 21 were male and 12 were female. The mean value of age was 51.2 (±12.6) years. Eight patients had systemic involvement. In addition, among 33 patients, 13 patients had an elevated serum IgG4. Surgery was performed in 31 patients. Steroid therapy alone and steroid therapy with immunosuppressants were effective in 94% and 100% of the cases, respectively. Furthermore, 31 of 33 patients reported improved outcomes, 1 patient died due to infection, and in 2 patients the data were not available. CONCLUSIONS: Spinal IgG4-HP is a rare entity. In addition, it should be considered in the differential diagnosis of space-occupying lesions around the spinal cord. Histopathology with immunohistochemistry results provides the most reliable evidence for diagnosis. Steroid therapy is the first line of treatment. Surgical decompression may be required in patients presenting with nerve root and/or spinal cord compression. Long-term follow-up is necessary for patients with spinal IgG4-HP.

Low Molecular Weight Chitosan-Insulin Complexes Solubilized in a Mixture of Self-Assembled Labrosol and Plurol Oleaque and Their Glucose Reduction Activity in Rats.

Oral insulin delivery that better mimics physiological pathways is a necessity as it ensures patient comfort and compliance. A system which is based on a vehicle of nano order where positively charged chitosan interacts with negatively charged insulin and forms a polyelectrolyte complex (PEC) solubilizate, which is then solubilized into an oily phase of oleic acid, labrasol, and plurol oleaque-protects insulin against enzymatic gastrointestinal reduction. The use of an anionic fatty acid in the oily phase, such as oleic acid, is thought to allow an interaction with cationic chitosan, hence reducing particle size. Formulations were assessed based on their hypoglycaemic capacities in diabetic rats as compared to conventional subcutaneous dosage forms. 50 IU/kg oral insulin strength could only induce blood glucose reduction equivalent to that of 5 IU/kg (1 International unit = 0.0347 mg of human insulin). Parameters that influence the pharmacological availability were evaluated. A preliminary investigation of the mechanism of absorption suggests the involvement of the lymphatic route.

Leiomyosarcoma of the urinary bladder: A review and a report of two further cases.

OBJECTIVES: To review the published cases of leiomyosarcoma of the urinary bladder and to report two further cases. METHODS: The databases Pubmed and Hinari were searched using the keywords 'bladder', 'leiomyosarcoma' and 'smooth muscle neoplasm'. The 14 articles identified were reviewed, and we present a further two cases. RESULTS: Of more than 100 cases reported, 77 were reviewed. There is a lack of consensus about the standard treatment, and little is known about the natural history and prognosis of the tumour, due to its very low incidence. These tumours occur in older adults of either sex and are characterised by an aggressive behaviour. There is usually an unfavourable outcome, with the lungs being the most common site of metastasis. The two further cases we report had a different presentation and outcome. CONCLUSIONS: Because of the limited experience with this rare tumour, there are insufficient data to suggest the optimum management strategy and prognosis.

Serum prostate-specific antigen, radiologic findings and Gleason score in prostate biopsies in Jordan.

BACKGROUND AND OBJECTIVES: Prostate-specific antigen (PSA) and the PSA ratio are good screening tests for prostate carcinoma. The significance of PSA may be different from one ethnic group to another. Radiologic findings may be helpful in detecting prostate carcinoma. METHODS: We reviewed the findings of 348 prostate biopsies performed in a 4-year period. Of these, 278 cases were performed under ultrasound guidance and 70 were performed transrectally under digital guidance. PSA, PSA ratio, Gleason score and radiology findings were determined. RESULTS: Forty-three percent of the cases were diagnosed as having adenocarcinoma. The mean age for cancer patients was 68.4 years. The mean PSA level for patients with carcinoma was 23.4 ng/mL compared to 11.2 ng/mL for benign cases. Carcinoma occurred in 11% (PSA <4 ng/mL); 48.7% (PSA=4-10 ng/mL); 50.6% (PSA= 10-30 ng/mL); 72% (PSA >30 ng/mL). The PSA ratio for cancer cases was 9.9% compared to 13.7% for benign cases. The average Gleason score for all cancers was 7 of 10. There was no relationship between PSA level and Gleason score. The higher the Gleason score, the higher the percentage of carcinoma present in the cores. Most of the carcinomas (100/122) showed hypoechoic areas on ultrasound exam, while heterogeneous areas favored a benign lesion in 54/76, with a sensitivity of 82% and specificity of 38%. CONCLUSIONS AND IMPLICATIONS: The higher the PSA, the greater the chance of having cancer. PSA has a low positive predictive value for prostate carcinoma. Twenty-eight percent of PSA >30 can be attributed to benign conditions. A PSA ratio <10 is suggestive of carcinoma. A radiologic finding of a hypoechoic lesion is a sensitive tool for detecting prostate carcinoma, but its specificity is low.