Abstract... Background: Rare disease (RD) affects a small proportion of the population but collectively impose a significant healthcare burden. With over 10,000 rare conditions—80% of which are genetic—comprehensive data collection is essential. In Libya, a lack of centralized data and diagnostic infrastructure has limited understanding of disease prevalence and outcomes. The aim of this study was to establish the first national rare disease registry in Libya and provide an epidemiological overview of rare diseases to support healthcare planning and policy development. Methodology: This was a retrospective observational registry study conducted from March to November 2024. Data were collected from 625 patients across multiple healthcare centers in Libya using hospital records, clinical interviews, and genetic test results. Results: Of the 625 patients, 62.9% were male and 37.1% female, with the majority aged 5–14 years. The most prevalent disease categories were rare hematological (31.5%), neuromuscular and neurological (23.0%), and inborn errors of metabolism (20.3%). Sickle cell anemia (13.8%), Duchenne muscular dystrophy (8.6%), and cystic fibrosis (8.5%) were among the most frequently diagnosed conditions. Statistically significant variations were observed across age groups, regions, and healthcare centers (p < 0.001). Conclusion: This first national rare disease registry in Libya highlights substantial regional and age-related disparities in disease distribution. It underscores the urgent need for improved diagnostic capabilities, targeted awareness, and decentralized specialized care.
Abstract... Background: Threatened miscarriage, characterized by vaginal bleeding during early pregnancy, is associated with a high risk of fetal loss. Progesterone plays a critical role in maintaining pregnancy, and its insufficiency can lead to miscarriage. This study evaluates the efficacy of dydrogesterone (Duphaston) in managing threatened miscarriage associated with corpus luteal insufficiency.
Methods: A prospective controlled study was conducted at Misurata Central Hospital and Lady Clinic . Pregnant women (n=263) with mild to moderate vaginal bleeding before 14 weeks of gestation and low progesterone levels were randomized into two groups: a study group receiving dydrogesterone (40 mg stat followed by 10 mg three times daily) and a control group receiving no treatment.
The primary outcome was the continuation of pregnancy beyond 20 weeks. Statistical analysis was performed using Student’s t-test.
Results: Of the 263 women in their first and early second trimester enrolled, 134 in the treatment group and 129 in the control group completed the study. Miscarriage rates were significantly lower in the treatment group (11.2%) compared to the control group (32.6%; p ≤ 0.05). The majority of participants were under 30 years old, and most were in their first, second, or third pregnancy.
Conclusion: Dydrogesterone significantly reduces the risk of miscarriage in women with threatened miscarriage and corpus luteal insufficiency. Its efficacy, safety, and tolerability make it a valuable therapeutic option for maintaining pregnancy beyond 20 weeks. These findings support the use of dydrogesterone in the management of threatened miscarriage, particularly in women with low progesterone levels.
Abstract... Hydrocephalus is a notorious neurosurgical disease often associated with the adage "once a shunt, always a shunt." This study presents a retrospective analysis of hydrocephalic children who underwent ventriculoperitoneal (VP) shunt surgeries at Misurata Medical Center between February 2014 and February 2019. The study aimed to evaluate the etiology, clinical profile, and outcomes, including complications, in this pediatric age group. A total of 56 patients, aged 4 days to 10 years, were included. All patients were clinically diagnosed and radiologically confirmed using Magnetic Resonance Imaging (MRI), Computed Tomography (CT) scans, and ultrasonography (USG). Patients were followed up and treated for any procedure-related complications. Key findings indicate that 34% of patients required shunt revisions, with 74% of these occurring in children younger than one year. The overall mortality rate was 3% for patients under one year and 1% for those older than one year. Congenital hydrocephalus due to aqueductal stenosis showed a better prognosis compared to other etiologies, while post-hemorrhagic and craniospinal dysraphism-associated hydrocephalus carried higher complication and failure rates. VP shunt surgery in children older than one year was associated with a significantly lower rate of morbidity and mortality. Children without preoperative brain insult or postoperative complications achieved normal or near-normal developmental milestones.