Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine.

Introduction and importance: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder impacting multiple organs. Characterized by renal dysfunction, retinal dystrophy, obesity, polydactyly, intellectual disability, and hypogonadism, it lacks targeted treatment. Diagnosis relies on clinical criteria, and management emphasizes early detection, complication screening, and genetic counselling. Case presentation: A 4-year-old boy, born to first-cousin parents, presented with refractory iron-deficiency anaemia (IDA) and recurrent respiratory infections. Prenatal ultrasound revealed renal and limb anomalies. Physical examination showed dysmorphic features, polydactyly, and a giant-congenital naevus. Genetic testing revealed a homozygous MKKS variant. Despite oral iron, severe IDA persisted. Intravenous iron therapy yielded significant improvement. Clinical discussion: BBS, an autosomal recessive ciliopathy, involves various genes. In this case, the MKKS gene variant contributed to the syndrome. The incidence of BBS in the Arab population is discussed, emphasizing its rarity and varied clinical presentations. Incidence in the Arab population, including Palestine, is 1 in 13 500. Diagnostic criteria, encompassing major and minor features, highlight BBS complexity. Renal anomalies, visual disturbances, and cutaneous manifestations are common. Multidisciplinary care addresses systemic involvement with emerging treatments like setmelanotide. Conclusion: This case underscores BBS's rarity and complexity, featuring unique aspects like giant nevi and refractory IDA. Comprehensive management addresses renal, visual, cardiac, and neurologic aspects. Genetic counselling, prenatal testing, and preimplantation genetic diagnosis prevent transmission. Limitations include lacking local epidemiological data and prior studies in Palestine. This case contributes insights, stressing multidisciplinary management and prompting further research in underexplored populations.

Hypopigmented Mycosis Fungoides in an 11-Year-Old Palestinian Boy.

Cutaneous T-cell lymphoma (CTCL) is a lymphoproliferative disorder of the skin. The most common subtype of CTCL in pediatrics is mycosis fungoides (MF). There are multiple variants of MF. The hypopigmented variant represents more than 50% of MF cases in pediatrics. Misdiagnosis of MF can occur because it may resemble other benign skin pathologies. This is a case of an 11-year-old Palestinian boy presented with generalized nonpruritic hypopigmented maculopapular patches with progressive course for 9-months. Biopsy samples from a hypopigmented patch revealed appearances diagnostic of MF. Immunohistochemical staining was positive for CD3 and CD7 (partial) and a mixture of CD4 and CD8 positive cells. The patient's case was managed with narrowband ultraviolet B (NBUVB) phototherapy. After a few sessions, the hypopigmented lesions improved significantly.

A phase II study of pazopanib as front-line therapy in patients with non-resectable or metastatic soft-tissue sarcomas who are not candidates for chemotherapy.

BACKGROUND: Cytotoxic chemotherapy remains the standard of care first-line treatment for advanced and metastatic soft-tissue sarcomas (STSs). Certain patients may not be chemotherapy candidates based upon age or co-morbidities, leaving limited treatment options. Pazopanib is a multi-targeted tyrosine kinase inhibitor that is FDA-approved for metastatic STS after the first line. We proposed a phase II study evaluating pazopanib as a first-line agent in patients with advanced disease who are deemed not to be candidates for chemotherapy. METHODS: Eligible patients were at least 18 years old, not candidates for chemotherapyand were treatment naive. Pazopanib was titrated from 200 mg twice daily to a goal of 800 mg daily. The primary end point was the clinical benefit rate (CBR) (CBR = completed response + partial response + stable disease per Response Evaluation Criteria in Solid Tumours [RECIST 1.1]) at 16 weeks. The sample size of 56 evaluable patients was calculated to provide 80% power to test a hypothesised CBR of ≥35% against an unfavourable CBR of ≤20%. If ≥ 17 patients achieved benefit, the null CBR of 20% would be rejected at a nominal 5% alpha level. Secondary end points included progression-free survival (PFS), overall survival (OS), quality of life and serum biomarkers. FINDINGS: Fifty-six patients were enrolled from May 2015 to February 2019 and are included in the intention-to-treat analysis. Median PFS was 3.67 (2.62-7.25) months. Median OS was 14.16 (95% confidence interval [CI]: 8.4-NR) months, CBR = 39.29% (22/56) (CI = 0.265-0.533, p = 0.0007). No new or unexpected adverse events were seen. The most common grade I-II events were diarrhoea, nausea and fatigue. The most common grade III-IV events were hypertension and liver function test abnormalities. INTERPRETATION: These data suggest that there is a benefit to front-line pazopanib in patients with STS who are not candidates for cytotoxic chemotherapy.

Work-related musculoskeletal disorders among physical therapists: A comprehensive narrative review.

Healthcare workers, especially those with direct patient contact are amongst professions with the highest rate of workrelated musculoskeletal disorders (WMSDs), physical therapists (PTs) being one of them. Our objective was to review current knowledge relating to the prevalence, risk factors and prevention of WMSDs among PTs. Pubmed, Google Scholar and PEDro databases were searched for terms relating to WMSDs in PTs from inception to 2015. The prevalence of WMSDs among PTs was high, with lifetime prevalence reported as 55-91%, and 12-month prevalence ranges 40-91.3%, and the lower back as the most frequently affected, with estimates of a lifetime prevalence ranging 26-79.6%, and a 12-month prevalence ranging 22-73.1%, followed most often by the neck, upper back and shoulders. The major risk factors for workrelated low back pain (LBP) were: lifting, transferring, repetitive movements, awkward and static postures, physical load, treating a large number of patients in a single day and working while injured. Low back pain seems to be age- and genderrelated with a higher prevalence in females, younger PTs and PTs working in rehabilitation settings. Physical therapists, as a consequence of work-related LBP, may seek treatment, modify their daily living and leisure (lifestyle) activities, use aids and equipment or change their specialty area either within the profession or by leaving it. Skills and knowledge as to correct body mechanics do not prevent work-related injuries. Mechanical aids used for a patient transfer should be adopted by PTs and new strategies should be developed to reduce their WMSDs without compromising the quality of treatment. Int J Occup Med Environ Health 2016;29(5):735-747.