Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families. In this report we present two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic SYNE4 variant c.129-1G>T. This case report provides supportive evidence for the causative role of SYNE4 variants in hearing loss by presenting an additional family with a novel DNA variant.

In the present study, cardiovascular risk indices (Atherogenic Index of Plasma [AIP], Atherogenic Coefficient [AC], Castelli Risk Index-1 [CRI-1], and Castelli Risk Index-2 [CRI-2]) and bone mineral density (BMD SDS) were evaluated in patients with Familial Mediterranean Fever (FMF), and the association of these parameters with disease severity and MEFV gene mutations was investigated. A total of 126 participants (96 FMF patients and 30 healthy controls) were included in the study. FMF patients were classified as mild, moderate, or severe according to the PRAS severity score. Cardiovascular risk indices, biochemical parameters of bone metabolism, and BMD SDS values were compared among the groups. The relationship between BMD SDS and atherogenic indices was assessed by Spearman correlation analysis. The results were also analyzed according to MEFV gene mutations. No significant difference was detected among the groups in terms of sex or age (p > 0.05). FMF patients were found to have substantially higher cardiovascular risk indices than the control group, and these indices increased in parallel with disease severity (p < 0.05). The BMD SDS value of the severe FMF group was significantly lower than that of the other groups (p = 0.025). No difference was detected among the groups with respect to bone metabolism parameters (p > 0.05). No significant correlation was observed between BMD SDS and cardiovascular risk indices (p > 0.05). M694V was the most frequently detected mutation, and the BMD SDS value was lower in patients carrying mutations other than M694V (p = 0.011). The increased cardiovascular risk in FMF patients is associated with disease severity. Severe disease is accompanied by a reduction in bone mineral density. The lack of an association between cardiovascular risk and bone mineral density suggests that these systems may be affected through different mechanisms. It is important that FMF patients are monitored with respect to cardiovascular and bone health.

Objective: Transient tachypnea of the newborn (TTN) is a common condition observed in neonates. Since its management often requires intensive care and leads to maternal–infant separation, it is a major source of parental concern. The present study aimed to evaluate the effects of lipoxin A4 and resolvin D1 on the clinical course of TTN and to determine whether complete blood count parameters could serve as predictors of disease severity. Materials and Methods: A total of 62 neonates admitted to the neonatal intensive care unit with a diagnosis of TTN were included. According to Silverman scoring, infants were divided into a mild group (n = 31) and a severe group (n = 31). Lipoxin A4 and resolvin D1 levels, together with complete blood count parameters, were compared between the two groups. Logistic regression and receiver operating characteristic (ROC) curve analyses were performed to assess the predictive value of these parameters for the clinical course. Results: Serum lipoxin A4 (p = 0.005) and resolvin D1 (p = 0.002) levels were significantly higher in the mild group compared with the severe group, whereas the neutrophil-to-lymphocyte ratio (p = 0.044) and platelet-to-lymphocyte ratio (p = 0.027) were significantly lower. Resolvin D1 and the platelet-to-lymphocyte ratio were identified as significant predictors of severe disease. In predicting a mild course, lipoxin A4 demonstrated the highest sensitivity (80.6%), while resolvin D1 exhibited the highest specificity (87.1%). Conclusions: Lipoxin A4 and resolvin D1 appear to play a protective role in preventing severe clinical progression of transient tachypnea of the newborn.

Objective: In the present study, cardiovascular risk indices (Atherogenic Index of Plasma [AIP], Atherogenic Coefficient [AC], Castelli Risk Index-1 [CRI-1], and Castelli Risk Index-2 [CRI-2]) and bone mineral density (BMD SDS) were evaluated in patients with Familial Mediterranean Fever (FMF), and the association of these parameters with disease severity and MEFV gene mutations was investigated. Methods: A total of 126 participants (96 FMF patients and 30 healthy controls) were included in the study. FMF patients were classified as mild, moderate, or severe according to the PRAS severity score. Cardiovascular risk indices, biochemical parameters of bone metabolism, and BMD SDS values were compared among the groups. The relationship between BMD SDS and atherogenic indices was assessed by Spearman correlation analysis. The results were also analyzed according to MEFV gene mutations. Results: No significant difference was detected among the groups in terms of sex or age (p>0.05). FMF patients were found to have substantially higher cardiovascular risk indices than the control group, and these indices increased in parallel with disease severity (p< 0.05). The BMD SDS value of the severe FMF group was significantly lower than that of the other groups (p=0.025). No difference was detected among the groups with respect to bone metabolism parameters (p>0.05). No significant correlation was observed between BMD SDS and cardiovascular risk indices (p>0.05). M694V was the most frequently detected mutation, and the BMD SDS value was lower in patients carrying mutations other than M694V (p=0.011). Conclusion: The increased cardiovascular risk in FMF patients is associated with disease severity. Severe disease is accompanied by a reduction in bone mineral density. The lack of an association between cardiovascular risk and bone mineral density suggests that these systems may be affected through different mechanisms. It is important that FMF patients be monitored with respect to cardiovascular and bone health.

Objectives: To evaluate the allergic rhinitis (AR) symptoms, asthma control, and quality of life (QoL) outcomes following treatment in children with seasonal allergic rhinitis (SAR), with and without asthma. Methods: Children diagnosed with SAR and presenting during the pollen season were included in the study. Symptom severity of SAR was assessed using the Total Nasal Symptom Score (TNSS), Total Ocular Symptom Score (TOSS), and Visual Analog Scale (VAS). Asthma control was measured using the Childhood Asthma Control Test (C-ACT), Asthma Control Test (ACT), and CARATkids. Quality of life (QoL) was evaluated using the Pediatric Rhinoconjunctivitis Quality of Life Questionnaire. Data were collected at admission, the first month, and the second month of treatment. Results: Fifty-five children aged 5-16 years with SAR were evaluated of whom twenty three (42%) had asthma. Sensitivities to grass, tree, and weed allergens were observed in 74.5%, 50.9%, and 80% of patients, respectively. During the study period, TNSS, TOSS, and VAS scores significantly decreased (P<0.05 for all). Significant improvements were also observed in CARATkids, C-ACT and ACT scores among SAR patients with asthma (P<0.05 for all). All domains of QoL score showed significant improvement (P<0.001 for all), and positively correlated with TNSS, TOSS, and VAS scores. In SAR patients with asthma, ACT and C-ACT scores demonstrated a positive correlation with QoL scores, while CARATkids scores showed a negative correlation. Conclusions: Treatment for SAR in children significantly reduces symptom severity, improves asthma control, and enhances QoL. Effective management of SAR is crucial for alleviating the disease burden and improving patients' overall well-being.