Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek–Cypriots with FMF‐related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu–p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.     

Antibiotic Prophylaxis in Primary Hip and Knee Arthroplasty : Comparison Between Cefuroxime and Two Specific Antistaphylococcal Agents

This is a prospective randomized study comparing cefuroxime to 2 antistaphylococal agents (fusidic acid and vancomycin), for prophylaxis in total hip arthroplasty (THA) and total knee arthroplasty (TKA) in an institute, where methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-resistant Staphylococcus epidermidis (MRSE) prevalence exceeds 25% of orthopedic infections. There were 3 patient groups. Group A included the patients who received cefuroxime, group B those who received fusidic acid, and group C those who received vancomycin. Patients were evaluated for the presence of superficial and/or deep infection at the surgical site. Statistical analysis did not reveal any substantial difference between the 3 groups. We do not recommend the use of specific antistaphylococcal agents for prophylactic use in primary THA and TKA, even in institution where MRSA and MRSE exceed 25% of orthopedic infections.     

Uniform definition of asthma severity, control, and exacerbations: document presented for the World Health Organization Consultation on Severe Asthma

Asthma is a global health problem affecting around 300 million individuals of all ages, ethnic groups and countries. It is estimated that around 250,000 people die prematurely each year as a result of asthma. Concepts of asthma severity and control are important in evaluating patients and their response to treatment, as well as for public health, registries, and research (clinical trials, epidemiologic, genetic, and mechanistic studies), but the terminology applied is not standardized, and terms are often used interchangeably. A common international approach is favored to define severe asthma, uncontrolled asthma, and when the 2 coincide, although adaptation may be required in accordance with local conditions. A World Health Organization meeting was convened April 5-6, 2009, to propose a uniform definition of severe asthma. An article was written by a group of experts and reviewed by the Global Alliance against Chronic Respiratory Diseases review group. Severe asthma is defined by the level of current clinical control and risks as "Uncontrolled asthma which can result in risk of frequent severe exacerbations (or death) and/or adverse reactions to medications and/or chronic morbidity (including impaired lung function or reduced lung growth in children)." Severe asthma includes 3 groups, each carrying different public health messages and challenges: (1) untreated severe asthma, (2) difficult-to-treat severe asthma, and (3) treatment-resistant severe asthma. The last group includes asthma for which control is not achieved despite the highest level of recommended treatment and asthma for which control can be maintained only with the highest level of recommended treatment.     

A case of traumatic infraorbital neuroma

A 53-year-old Afghan man presented with a 12-month history of left proptosis, diplopia and facial swelling 20 years after a bomb blast injury. Magnetic resonance and computed tomography imaging revealed a well-circumscribed lesion centred within the left inferior orbit/superior maxillary sinus along with left orbital fracture. Histopathology and immunostaining of the debulked lesion were consistent with traumatic neuroma of the infraorbital nerve. Infraorbital neuromas have developed following orbital decompression surgeries but have not been reported previously following non-surgical trauma.     

What are the challenges in choosing pharmacotherapy for rhinosinusitis?

ABSTRACT

Introduction: Rhinosinusitis is an extremely prevalent condition with significant health-care expenditure and socio-economic burden. Although symptomatically patients with acute and chronic rhinosinusitis present similarly, the underlying pathogenesis of these conditions is different.

Areas covered: This perspective discusses the various treatment options for both acute and chronic rhinosinusitis and examines some of the challenges in choosing appropriate pharmacotherapy. It examines the evidence supporting the commonly used agents including saline irrigations, topical and oral corticosteroids and antibiotics and makes recommendations based on the highest level of evidence available. Furthermore, the role or precision medicine and emerging therapies such as biologics are discussed.

Expert opinion: Despite being commonly prescribed, the evidence supporting the routine use of oral antibiotics for CRS and the majority of ARS is lacking. The authors suggest judicious use of these medications after clear consideration of the indications. Topical intranasal corticosteroids and saline irrigations remain a safe and effective treatment for rhinosinusitis and should be considered as first-line therapy. In patients who fail to respond to appropriate treatment, therapy should be escalated after consultation and review by a specialist.     

Proteomic analysis of nasal mucus samples of healthy patients and patients with chronic rhinosinusitis

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Autonomic nerve involvement and venous leakage in diabetic men with impotence

OBJECTIVE: To determine the neurophysiological and vascular factors in diabetic impotence, particularly the role of autonomic neuropathy on venous leakage and erectile impotence. PATIENTS AND METHODS: Thirty-four diabetic men with impotence were investigated using various neurophysiological and radiological methods. The results were compared with those from patients with idiopathic penile venous leakage for autonomic neuropathy, especially for spontaneous cavernosal activity (SCA). RESULTS: Of the neurophysiological tests, the SCA was most frequently abnormal, with the loss of normal periodic oscillations. Penile venous leakage, either alone or with arterial insufficiency, was the most frequent vascular problem (67%) in patients with diabetic impotence, in whom the SCA was absent in most (83%). Conversely, the SCA was normal in all impotent patients with idiopathic venous leakage. CONCLUSION: Venous leakage in diabetic patients is probably produced by autonomic dysfunction of the penile vascular innervation or degeneration of penile smooth muscles, because the SCA was absent more often in these patients.     

Reduced airway responsiveness in nonelite runners

PURPOSE: The effects of endurance training on airway responsiveness in nonasthmatic subjects are poorly defined. We hypothesized that airway responsiveness may differ between none-lite endurance athletes and sedentary subjects, and studied healthy, nonelite runners and sedentary controls by single-dose methacholine challenges carried out in the absence of deep inspirations, in that deep inspirations are known to oppose airway narrowing in nonasthmatic subjects. METHODS: A total of 20 nonasthmatic none-lite runners (mean age+/- SD: 43.0+/- 8.5 yr; training volume: 68 km.wk; range: 40-100; racing experience: 11+/- 8 yr) and 20 sedentary controls (age: 44.0+/- 20.6 yr) were studied, all of them being normo-reactive to standard methacholine challenge up to 25 mg.mL concentration. All subjects were studied at rest; six runners were also studied about 1 h after completing the Palermo marathon (December 8, 2001). The primary outcome of the study was the inspiratory vital capacity (IVC) obtained after single-dose methacholine inhalation at the end of 20 min of deep inspiration prohibition. RESULTS: At rest, IVC decreased by 10.5+/-8.1% after challenge with methacholine at 75 mg.mL in athletes, and by 24.3+/-16.1% after a methacholine concentration of 52+/-5.7 mg.mL in sedentary controls (P=0.002). The decreased response to methacholine in runners did not correlate with static lung volumes, amount of weekly training, or running experience. CONCLUSION: Methacholine challenge under deep inspiration prohibition revealed that endurance training attenuates airway responsiveness in nonasthmatic, none-lite runners. Airway hyporesponsiveness was potentiated after the marathon, suggesting involvement of humoral (i.e., catecholamine levels), airway factors (i.e., nitric oxide), or both in modulating airway tone after exercise.     

A "reverse" Maffucci's syndrome: case report and short review of the literature

Maffucci's syndrome is a congenital, non-hereditary mesodermal dysplasia associated with multiple enchondromas and after some years accompanied by hemangiomas. We describe a rare case of "reverse" Maffucci's syndrome in a 42-year-old woman who has suffered from multiple hemangiomas for the last 24 years. The last two years she complained for heel pain. Bone scintigraphic examination showed abnormal findings in the left calcaneal bone. The scintigraphy, radiology and histology findings revealed multiple enchondromas, so the diagnosis was changed into Maffucci's syndrome. After one year, the left calcaneal bone showed sarcomatous transformation.