Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were evaluated through Sanger sequencing among 745 non-syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative GJB2 sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of GJB2 variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely SLC26A4, MYO15A, TMPRSS3, TMC1, OTOF, CDH23, PJVK, MYO7A, TECTA, and PCDH15, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing-impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population.

Multifocal Langerhans' Cell Histiocytosis in an Adult.

Introduction: Multifocal Langerhans' cell histocytosis is a rare condition that can affect multiple organs and manifest in various scenarios. While the condition is more commonly found in children, it can also occur in adults. Case Report: A 43-year-old female presented with refractory otorrhea and had a rubbery neck mass in the left mid-cervical area, as well as an itchy eczematoid lesion in the left parietal area. The otic lesion was eventually resected, and histopathologic examination confirmed the diagnosis of Langerhans histiocytosis. Conclusions: Although rare in adults, Langerhans histiocytosis should be considered as one of the differential diagnoses for ear canal polyps. If diagnosed, medical treatment should be pursued.

A Pedunculated Cervical Mass: A Case Report.

Introduction: A congenital cervical mass is a considerable health problem worldwide; however, accessory tragus (AT) in the neck is extremely rare. The cervical variant of AT or congenital cartilaginous rest of the neck (CCRN) is a rare anomaly related to the branchial arch located at the lateral of the neck that typically presents as an asymptomatic papule or nodule along the anterior border of sternocleidomastoid (SCM) muscle. It is detected since birth or in the first few years of life. Diagnosis is based on the clinical characteristics of the lesion, surgical findings, and histopathologic studies. Case Report: A young man with no underlying diseases or known congenital anomaly was referred by a dermatologist for an asymptomatic pedunculated papule in the left mid-cervical area. Physical examination reveals a firm and mobile papule with a size of 1*1 cm on the anterior middle 1/3 border of the SCM. Radiologic findings illustrated a mass nearby the SCM with a long tract beneath it extending upward. The lesion was finally resected, and during surgery, a long tract was discovered, and histopathologic examination confirmed the diagnosis of a CCRN. Conclusions: Although rare, the cervical variant of AT or CCRN should be considered in a differential diagnosis of benign masses in the neck.

The Effect of Vitis vinifera L. Juice on Serum Levels of Inhibin B, Sperm Count in Adult Male Rats.

PURPOSE: Vitis vinifera is a species of Vitis that is native to the Mediterranean region, central Europe, and southwestern Asia, and has been used as a drug in traditional medicine. Traditional medicinal plants have been used for medical purposes with increasing effectiveness. It is important to identify drugs that inhibit spermatogenesis. Therefore, the present study aimed to investigate the effect of grape juice (GJ) on serum levels of inhibin B and sperm count in normal male rats. MATERIALS AND METHODS: Thirty-five adult male rats were randomly divided into five groups, each containing seven rats. Rats in the control group received 1 mL of normal saline over the course of the study. The experimental groups received GJ (100, 200, 400, and 1,600 mg/kg, orally, for 35 days consecutively). At the end of the treatment period, fertility indices were measured, including body weight difference, sex organ weight, sperm motility and count, epididymal sperm reserve, daily sperm production (DSP), and serum inhibin B levels. RESULTS: We found that GJ reduces body weight difference, was associated with decreased sperm motility and count in all treatment groups (p≤0.05 and p≤0.001, respectively). Moreover, DSP was significantly decreased in all treatment groups compared to the control group (p≤0.05), except in the group receiving 100 mg/kg of GJ. Inhibin B levels were significantly decreased in all treatment groups (p≤0.05). CONCLUSIONS: The results of our study suggest that GJ in all doses, but especially in higher doses, may decrease fertility in male rats.

Effects of aqueous extract of celery (Apium graveolens L.) leaves on spermatogenesis in healthy male rats.

OBJECTIVES: Nowadays, a lot of attention has been paid to the therapeutic properties of herbs, including evaluation of the effects of these plants on fertility in laboratory animals. Apium graveolens L. (celery) has been widely used in traditional medicine for treatment of various disorders including impotency. Therefore, this study was designed to investigate the effects of aqueous extract of A. graveolens on testicular tissue and spermatogenesis in healthy male rats. MATERIALS AND METHODS: In this research, 24 apparently healthy male rats were divided into three groups, including eight rats in each. The first group as control received only distilled water 1 ml/animal/day. The second and third groups orally received 100 and 200 mg/kg b.w. of the extract, respectively, for 30 days. The day after the last administration of the extract, the rats were sacrificed, the testes were removed entirely, and the morphometric studies were carried out. Epididymal sperm count and histological studies of testicular tissue were conducted. RESULTS: The comparison between the treated and control groups revealed a remarkable increase in the seminiferous tubules diameter, testes volume (p≤0.001), and the number of spermatogonia, primary spermatocytes and spermatozoa. Furthermore, the increase in the number of spermatids and epididymal weight were only significant at high doses of the extract (p≤ 0.05). CONCLUSIONS: The results from this study indicated that administration of celery leaf extract may improve spermatogenesis process and also be useful for some sperm fertility parameters.

The Effect of Hydro-Alcoholic Extract of Foeniculum vulgare Mill on Leukocytes and Hematological Tests in Male Rats.

BACKGROUND: Medicinal plants have a long history in treating blood disorders, which is one of the most common problems in today's advanced world. Fennel (Foeniculum vulgare) is a medicinal plant with a high content of polyphenols and has antioxidant and immunomodulatory properties. OBJECTIVES: The aim of this study was to evaluate the effect of hydro-alcoholic extract of fennel on some hematological indices in male rats. MATERIALS AND METHODS: In this experimental study, thirty male Wistar rats were divided into six groups (five rats in each group). The first group (control) did not receive any dose; the second group (sham) received 1 mL normal saline (extraction solvent); and the experimental groups 1, 2, 3 and 4 respectively received 1 mL hydro alcoholic extract of fennel in four doses of 250, 500, 750 and 1000 mg/kg of body weight every 48 hours for 30 days by gavage. One day after the last gavage following induction of anesthesia and taking blood from the heart of rats, measurement of red and white blood cells, hemoglobin, hematocrit and tests of bleeding and coagulation time (CT) were performed. The data was analyzed by one-way ANOVA test using SPSS15 software. RESULTS: Fennel increased mean RBC (7.54 ± 0.53 × 106) and WBC (5.89 ± 0.78 × 103) values, especially at a dose of 250 mg/mL and CT (2.45 ± 0.20) at a dose of 500mg/mL compared to the control group (P < 0.05). CONCLUSIONS: Fennel increased red and white blood cells probably due to the presence of polyphenols and antioxidant activity of fennel and reduced negative effects of free radicals on blood cells.

A hydatid cyst in an unusual location-the infratemporal fossa.

Hydatid disease is a considerable health problem worldwide, but hydatid cysts in the infratemporal region are extremely rare, even where the parasite is endemic. Here we report on a 17-year-old female who presented with a benign swelling in the infratemporal fossa. During surgery a cystic mass was discovered and histopathologic examination confirmed the diagnosis of a hydatid cyst. Although rare, a hydatid cyst should be considered in a differential diagnosis of benign swellings in the maxillofacial region. Physicians should exercise a high index of suspicion even in nonendemic locations.

Congenital agenesis of all the nasal cartilages.

UNLABELLED: With the exception of septal deviation, congenital anomalies of the nasal cartilages constitute a small fraction of all congenital nasal anomalies. This report presents a patient with isolated agenesis of all the nasal cartilages, which has never been recorded previously. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.