Genetic Screening of GJB6 Large Deletions (GJB6-D13S1830 and GJB6-D13S1854) in Selected Libyan Families with Non-Syndromic Hearing Loss.

Mon, 23 Feb 2026 00:00:00 +0000

Hearing loss (HL) is one of the most common sensory defects, affecting approximately 1 in 1,000 newborns worldwide, while nearly 4% of individuals under 45 years of age experience some degree of hearing impairment, with a significant genetic contribution. Non-syndromic hearing loss (NSHL) is predominantly inherited in an autosomal recessive manner (75–80%), followed by autosomal dominant inheritance (20–25%), with X-linked and mitochondrial patterns accounting for a small proportion of cases (1–2%). The DeaFNess, autosomal recessive, locus B1 (DFNB1) is a major genetic contributor to autosomal recessive non-syndromic hearing loss (ARNSHL) globally. Two deletions in the Gap Junction Protein Beta 6 gene (GJB6), del(D13S1830) and del(D13S1854), are commonly implicated in this locus. The present study aimed to investigate the contribution of GJB6 deletions to hearing loss in four unrelated Libyan families. A total of 38 participants were involved, including 17 individuals diagnosed with congenital NSHL and 21 unaffected relatives from the same families. Following DNA extraction from blood samples, multiplex polymerase chain reaction (PCR) was performed, and the amplified products were visualized by agarose gel electrophoresis. Selected products were further analyzed by DNA sequencing. Neither the del(D13S1830) nor the del(D13S1854) GJB6 deletions were detected in any of the examined samples. However, DNA sequencing identified a heterozygous C/T variant in the GJB6 gene in one family, suggesting the presence of a rare or potentially novel variant associated with NSHL. The absence of these deletions in the studied families indicates that genetic factors other than GJB6 may play a role in the etiology of ARNSHL in the Libyan population. These findings highlight the genetic heterogeneity of NSHL and emphasize the need for further comprehensive genetic investigations to elucidate the full spectrum of causative genes in this population

Keywords – Non-syndromic hearing loss, Autosomal recessive hearing loss, GJB6 gene, GJB6 mutation, Libya.

Correlation Between Histopathological Findings and Clinical Indications in Hysterectomy Cases

Taweda Khalifa — Wed, 25 Feb 2026 00:00:00 +0000

Hysterectomy is one of the most common gynecological surgeries carried out globally, second only to cesarean section. It is indicated for a wide range of benign and malignant conditions; however, discrepancies often exist between the clinical indications for hysterectomy and the final histopathological findings. This study aimed to assess the correlation between clinical indications and histopathological findings in hysterectomy specimens. A retrospective observational study was conducted over one year at the Obstetrics and Gynecology Department, Al-Bayda Medical Center. A total of 168 female patients aged ≥18 years who underwent hysterectomy for gynecological indications were included. Clinical data, preoperative investigations, and histopathological reports were collected from medical records. Specimens were analyzed using standard histopathological techniques, and findings were compared with preoperative clinical diagnoses. The majority of hysterectomies were performed in women aged 41–50 years (57.1%). Multiparous women constituted the largest group, with 49% having two prior deliveries. Heavy menstrual bleeding was the most frequent presenting symptom (50%). Leiomyoma was the most common clinical diagnosis (52.4%), followed by adenomyosis (12.5%). Histopathological analysis revealed leiomyoma in 31.5% of cases, leiomyoma with adenomyosis in 13.7%, and adenomyosis alone in 10.7%. Malignancies were identified in 10.7% of specimens, including endometrial (7.7%) and cervical carcinoma (3%). A notable discrepancy was observed between clinical and histopathological diagnoses; for example, only 60.2% of clinically suspected leiomyomas were confirmed histologically, and several cases of clinically benign conditions revealed underlying malignancies. The study highlights a considerable gap between clinical diagnoses and histopathological findings in hysterectomy cases. While leiomyomas remain the leading indication, histopathology frequently uncovers additional or alternative pathologies, including malignancies. These findings emphasize the indispensable role of histopathological evaluation in confirming diagnoses, guiding patient management, and preventing misdiagnosis. Strengthening preoperative diagnostic protocols through improved imaging and routine endometrial sampling may reduce discrepancies and optimize treatment decisions

Libyan Medical Journal

Genetic Screening of GJB6 Large Deletions (GJB6-D13S1830 and GJB6-D13S1854) in Selected Libyan Families with Non-Syndromic Hearing Loss.

Correlation Between Histopathological Findings and Clinical Indications in Hysterectomy Cases