These findings indicate that high levels of CA autoantibodies against hsp60 can be considered to be a novel family risk factor of CHD, independent of HDL- and LDL-cholesterol levels.

The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNA Ser(UCN) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with special attention to phenotypic variations and haplogroup background. A Hungarian family, the fourth family reported in the literature, is presented, in which analysis of three generations with bilateral isolated hearing loss revealed the m.7510T>C tRNA Ser(UCN) mutation in homoplasmic form in the affected members. Haplogroup analysis verified an unnamed subgroup of mitochondrial haplogroup H. Previously reported Spanish and North American Caucasian families belong to different subgroups of haplogroup H. Analyzing our biobank of Hungarian patients with sensorineural hearing loss, we did not detect this mutation in any other patient, nor was it found in Caucasian haplogroup H control samples. Comparing the cases reported so far, there is interfamilial variablity in the age of onset, accompanying symptoms, and haplogroup background. Our case adds further genetic evidence for the pathogenicity of the m.7510T>C mutation and underlines the need to include full mtDNA sequencing in the screening for unexplained hearing loss.

Background:In this observational trial, data were collected on the effectiveness and tolerability/safety of a nasal spray containing tramazoline and essential oils (trade name Rhinospray ® Plus) used for symptomatic treatment of acute rhinitis due to common cold. Methods:The trial was performed in 300 children, adolescents and adults, who were to be treated with Rhinospray ® Plus for up to 4 times per day for up to 10 days. Primary endpoints were the change from baseline to final visit in the mean of three single symptom scores (blocked nose, sneezing, and runny nose) and the mean improvement in two quality-of-life parameters (ability to perform normal daytime activities and quality of sleep).Results: A total of 108 children, 30 adolescents and 162 adults were treated with Rhinospray ® Plus. No patient discontinued prematurely. There was a mean reduction of 2.0 ± 0.6 (standard deviation) in nasal symptom scores from baseline to final visit; 297 of 300 of patients (99.0 %) reported an improvement. The mean value for improvement in quality-of-life parameters was 1.3 ± 0.5. Improvement in daytime activities was reported by all 300 patients (100.0 %) and in quality of sleep by 292 patients (97.4 %). Effectiveness and tolerability were rated as 'very good' or 'good' by 95.4 % and 97.4 % of patients, respectively; the investigators rated effectiveness and tolerability as 'very good' or 'good' for 97.4 % and 100.0 % of patients, respectively. No adverse events were reported.

BackgroundInfections are caused by staphylococcus bacteria commonly found on the skin or mucosal membranes of healthy patients. These bacterias can turn into blood stream and cause severe life-threatining conditions: severe erythema multiforme-like eruption of skin and lesions of the oral, genital and anal mucosa associated with fever, arthralgia and neurological symptoms. To find the correct diagnosis among mucocutaneous diseases sometimes difficult but is important for choosing the proper medication.MethodsA 10 month old boy with symptoms starting 2 days before with upper airway tract infection, external otitis and some urticarial eruption on his body without fever. He was put on oral antihistamin and antibiotic treatment. He was reffered to our Department because of high fever, conjunctivitis, stomatitis and redness of his skin all over his body with some blister formation. He was unable to eat, he was in pain, but sleepy. After a few hours of his admission his fever became 39°C, severe exfoliation occured, and some large flaccid bullaes appeared and erupted, drained an amber-colored liquid and spreaded to cover extensive areas of his body revealing denuded skin. His history and symptoms suggested allergic reaction for his medication or autoimmun/ mucocutaneous disorder, but interestingly his laboratory tests were in the normal range. In spite of these to prevent a bacterial superinfection after bacterial culturing of throat, nose, skin, and blood, we introduced iv amoxicillin/clavulanic-acid therapy, cyclesonide eye drops, antiseptic local treatment of mouth (chlorhexidine digluconate) and skin (unguentum antisepticum). After 2 days his fever stopped and the top layer of his skin started to come off, partly powdery scales formed.ResultsThe symptoms started to resolve slowly and the child became symptome free after 10 days. Bacterial culturing results confirmed the diagnosis of SSSS. The antibiotic treatment was completed on the tenth day.ConclusionsSymptomes and appearence of the disease suggested several diseases but the laboratory tests were normal, making the diagnosis more difficult, the supposed diagnosis did not fit properly for the patient age. Careful observation of patients and the disease, exfoliative cytology and a biopsy, microbiological investigations allow the diagnosis, ruling out erythema multiforme and drug-induced toxic epidermal necrolysis, both which are similar to SSS Syndrome.

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