Familial Mediterranean fever (FMF) is an autosomal recessive recurrent episodic inflammatory disorder that occurs with high frequency in certain populations in the Mediterranean area. Using extended pedigree data of 90 FMF probands, we calculated the FMF gene frequency in various ethnic groups in Israel by analyzing the frequency in a total of 2,312 first cousins. The heterozygote frequencies were as follows: 1:4.9 (0.2 +/- 0.06) for the Libyan subgroup, 1:6.4 (0.16 +/- 0.03) for the other North African countries subgroup, 1:13.3 (0.07 +/- 0.04) for the Iraqi subgroup, 1:11.4 (0.09 +/- 0.06) for the Ashkenazic subgroup, and 1:29.4 (0.03 +/- 0.03) for the remaining ethnic groups. The observed number of affected parents and offspring of the probands was in agreement with the estimated gene frequency. Thus, the FMF gene frequency is very high in all Jewish ethnic groups in Israel, especially those originating in North African countries. This also explains the parent-to-off-spring transmission of FMF reported in North-African Jews.
To identify a specific heterozygote advantage in familial Mediterranean fever (FMF), responsible for the high carrier rate of 1/6 in North African Jews, we studied the morbidity and mortality of 148 parents of affected patients and of 148 ethnically matched control persons. Our data demonstrate an apparently reduced prevalence of asthma in the heterozygotes compared with the control persons (3 vs. 6). There were no significant differences between the 2 groups in fertility rate, number of pregnancies and deliveries, or the prevalence of common diseases. Our data are in agreement with previous studies which demonstrated decreased asthma prevalence in FMF patients. It further confirmed, these findings suggest that identification of the FMF gene on 16p may provide an insight into asthma.
HypothesisThere may be an association between a neurovascular conflict (NVC) of the auditory nerve and unilateral sudden sensorineural hearing loss (SSNHL).BackgroundCompression of cranial nerves by vascular structures can lead to significant symptomatology that may require surgical decompression. Notable examples are trigeminal neuralgia and hemifacial spasm. Magnetic resonance imaging (MRI) is part of the workup for SSNHL, and it may depict an NVC of the auditory nerve. Here we look into the association between this NVC and unilateral SSNHL.MethodsA retrospective analysis was performed on all consecutive patients with unilateral SSNHL who underwent an MRI scan in our medical center. The data collected included age, gender, side and severity of hearing loss, and accompanying complaints. Each MRI scan was reviewed by a neuroradiologist who was unaware of hearing loss laterality. The presence, side, extent, and location of a potential NVC involving the auditory nerve were determined, and a correlation between radiological findings and auditory parameters was sought.ResultsFifty‐four patients (male‐to‐female ratio 26:28, age range 25–80 years) were enrolled into the study. Fourteen of them (25.9%) had normal MRI findings. Twenty‐six patients had a unilateral NVC, and the pathology was ipsilateral to the side of hearing loss in only 12 of them (46.2%). Fourteen (25.9%) patients had MRI findings of bilateral NVCs. There was no significant correlation between the side of the SSNHL and any radiological findings (P = .314).ConclusionThe data presented herein support the conclusion that there is no association between CN8 NVC and unilateral SSNHL.Level of Evidence2b.
Objective: To discuss the clinical implications of the association between temporal bone tegmen dehiscence (TD) necessitating surgical correction and the adjacent dehiscent superior semicircular canal (SSCD). Study Design: Retrospective. Setting: Tertiary referral center. Patients: Sixteen patients with idiopathic TD, with or without SSCD, requiring surgical correction. Interventions: Corrective surgery for TD. High-resolution temporal bone-targeted computed tomography. Main Outcome Measures: The impact of the minimal distance between TD and SSCD or the arcuate eminence on the choice of surgical approach to TD. Results: The patients’ median age was 58 years and 5 were males. The median body mass index was 31.8 kg/m2. The average distance from the TD and the SSC was 4.9 mm (range 2.1–14.2 mm). Three of the 14 patients who were operated via a temporal craniotomy to fix a cerebrospinal fluid-leaking TD required plugging of an asymptomatic SSCD due to its close proximity (3–5 mm) to the defect, and two of them had relatively protracted vestibular recuperation. Two patients were operated via a transmastoid approach for sealing a cerebrospinal fluid-leaking TD coexisting with a bilateral asymptomatic SSCD. No patient had a hearing loss. Conclusion: The close proximity of a TD and an SSCD might not allow selective exposure. As a result, asymptomatic SSCD may become symptomatic during TD correction via the temporal craniotomy approach. The need to plug an asymptomatic SSCD that is proximal to a TD should be factored in planning for surgery and rehabilitation. The choice of surgical approach (middle fossa vs. transmastoid) could be influenced by this relationship, especially in cases of bilateral lesions.
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