Background: Diabetic retinopathy (DR) is a complication associated with uncontrolled DM. It is a leading preventable cause of visual impairment in the world and a cause of blindness in those under 75 years old in developing countries. We aimed to explore the prevalence and associated risk factors of DR among diabetic patients in the West Bank. Materials and Methods:A quantitative multicenter cross-sectional study was conducted in all West Bank cities. Nearly, 385 patients underwent a comprehensive eye examination in addition to blood and urine tests. A previously validated questionnaire for ocular examination classification was used together with a socio-demographic and past medical history information sheet. Results: The prevalence of all DR in the West Bank was 41.8%. The prevalence of non-proliferative diabetic retinopathy (NPDR) was 50.3% (38.5% for mild NPDR, 10.6% for moderate NPDR and 1.2% for severe NPDR). The prevalence of proliferative diabetic retinopathy (PDR) was 9.9% and 39.7% for diabetic macular edema (DME) (17.4% for mild, 15.5% for moderate and 6.8% for severe DME). The prevalence of vision-threatening PDR and DME was 49.7% for both. In a univariate analysis, DR was significantly associated with body mass index; BMI (p = 0.035), DM duration (p = 0.002), Low-density lipoprotein (LDL) (p = 0.034), glutamic-oxaloacetic transaminase (GOT) level (p = 0.016) andblood urea (BU) (p = 0.044). A multivariate analysis showed a strong significant association between DR andpatients who had DM for 10-19years (adjusted odds ratio; AOR (95%CI); 1.843 (1.05–3.22)), abnormal levels of LDL (AOR (95%CI); 0.50 (0.30–0.83)), abnormal levels of GOT (AOR (95%CI); 0.49 (0.27–0.89)), and overweight (AOR (95%CI); 0.39 (0.19–0.80)). Conclusions: We found that the prevalence of DR in Palestine was higher than the global prevalence. Referral coordination between ophthalmologists and internal physicians is necessary to better follow up with DR patients. An interventional educational program by clinicians and public health professionals is recommended.

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90% of patients. The clinical spectrum of SDS in patients is wide, and variability has been noticed between different patients, siblings, and even within the same patient over time. Herein, we present two SDS siblings (UPN42 and UPN43) carrying the same SBDS mutations and showing relevant differences in their phenotypic presentation. Study aim. We attempted to understand whether other germline variants, in addition to SBDS, could explain some of the clinical variability noticed between the siblings. Methods. Whole-exome sequencing (WES) was performed. Human Phenotype Ontology (HPO) terms were defined for each patient, and the WES data were analyzed using the eVai and DIVAs platforms. Results. In UPN43, we found and confirmed, using Sanger sequencing, a novel de novo variant (c.10663G > A, p.Gly3555Ser) in the KMT2A gene that is associated with autosomal-dominant Wiedemann–Steiner Syndrome. The variant is classified as pathogenic according to different in silico prediction tools. Interestingly, it was found to be related to some of the HPO terms that describe UPN43. Conclusions. We postulate that the KMT2A variant found in UPN43 has a concomitant and co-occurring clinical effect, in addition to SBDS mutation. This dual molecular effect, supported by in silico prediction, could help to understand some of the clinical variations found among the siblings. In the future, these new data are likely to be useful for personalized medicine and therapy for selected cases.

Background: Beta‐thalassemia major (β‐TM) is a severe hereditary blood disorder, common in Palestine due to high consanguinity rates. Lifelong iron chelation therapy (ICT) is vital for managing iron overload from regular transfusions, but adherence remains a major challenge. Objective: This study investigates factors influencing ICT adherence among β‐TM patients in Palestine, focusing on sociodemographic, clinical, psychological, and healthcare‐related aspects. Methods: A cross‐sectional study was conducted at the National Thalassemia Center, Nablus, from July 2024 to the end of October 2024, including 120 β‐TM patients aged 3–33. Data were collected through structured interviews using a validated questionnaire covering demographics, disease knowledge, adherence, and satisfaction with healthcare. Adherence was based on missed doses and ferritin levels, analyzed using SPSS V21.0. Results: 62.5% of patients were adherent, with ferritin levels ≤ 2500, while nonadherent patients had levels ≥ 2501 ( p < 0.001). Although 98.7% of adherent and 100% of nonadherent patients had good disease knowledge, it did not predict adherence. Barriers included psychological distress (21.7%), medication side effects (16.7%), and inconsistent medication supply. Satisfaction with healthcare staff ( p < 0.001) and socioeconomic status, particularly income ( p = 0.014), significantly affected adherence. Conclusion: Adherence is influenced more by psychological, economic, and healthcare service factors than knowledge. A multidisciplinary approach—providing psychological support, stable medication access, and stronger patient–provider relationships—is essential to improve adherence and outcomes for β‐TM patients in Palestine.

Background: Female hairdressers are frequently exposed to a mixture of hazardous chemicals, which could impact their health. However, studies on this occupational exposure in Palestine are limited. This study aimed to assess the prevalence of respiratory, musculoskeletal, and reproductive symptoms among female hairdressers in Nablus, Palestine, and to examine their association with work duration. Methods: A cross-sectional study was conducted among 310 randomly selected female hairdressers from Nablus, using standardized assessment tools. Self-reported respiratory, musculoskeletal, and reproductive symptoms were collected and analyzed. Results: Among participants, 34.8% reported shortness of breath, 26.1% had a cough, and 23% experienced hand dermatitis. Musculoskeletal symptoms were highly prevalent, with neck pain (71.9%), shoulder pain (68.4%), and back pain (68.1%) being most common. Abortions were reported by 26.5% of participants. A significant association was found between work duration and respiratory symptoms such as wheezing and cough (P=0.029, 0.032), as well as musculoskeletal pain in shoulders, elbows, hands, and wrists (P=0.047, 0.007). No significant association was found between work duration and reproductive symptoms. Conclusion: Occupational safety improvements are recommended for female hairdressers, including better awareness and use of protective equipment, and promoting safe handling of chemicals. -

Background: Shwachman‐Diamond syndrome type 2 (SDS2) is a rare ribosomopathy caused by biallelic mutations in the EFL1 gene. This condition presents with features similar to classic SDS1 such as pancreatic insufficiency and haematologic abnormalities. Case Presentation: We report a Palestinian female infant admitted to the NICU at H‐Clinic Hospital, Ramallah, in January 2023, with a homozygous mutation in the EFL1 gene (c.3284G>A; p.Arg1095Gln), identified through whole exome sequencing and confirmed by Sanger sequencing. In addition to typical SDS2 features—pancytopenia, pancreatic insufficiency and growth failure—the patient exhibited unique manifestations, including ROP‐like retinal changes, infantile esotropia with inferior oblique overaction, and elevated ACTH and 17‐hydroxyprogesterone levels, indicating adrenal dysfunction. Findings: These findings expand the SDS2 phenotype to include novel ocular and endocrine involvement. No other pathogenic variants were identified by bioinformatic analysis. The recurrence of this variant in unrelated Palestinian families suggests a possible founder effect. Conclusion: This case underscores the importance of extended genetic testing and multidisciplinary evaluation in rare syndromes. It highlights the need for broader awareness of SDS2 among endocrinologists and ophthalmologists due to the novel clinical manifestations observed.