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Background We have encountered repeated cases of recessive lethal generalized severe (Herlitz-type) junctional epidermolysis bullosa ( JEB gen sev) in infants born to Hungarian Roma parents residing in a small region of Hungary. Objectives To identify the disease-causing mutation and to investigate the genetic background of its unique carrier group. Methods The LAMB3 gene was analysed in peripheral-blood genomic DNA samples, and the pathological consequences of the lethal defect were confirmed by cutaneous LAMB3 cDNA sequencing. A median joining haplotype network within the Y chromosome H1a-M82 haplogroup of individuals from the community was constructed, and LAMB3 single-nucleotide polymorphism ( SNP) patterns were also determined. Results An unconventional intronic splice-site mutation ( LAMB3, c.1133-22G>A) was identified. Thirty of 64 voluntarily screened Roma from the closed community carried the mutation, but none of the 306 Roma from other regions of the country did. The age of the mutation was estimated to be 548 ± 222 years. Within the last year, more patients with JEB gen sev carrying the same unusual mutation have been identified in three unrelated families, all immigrants from the Balkans. Two were compound heterozygous newborns, in Germany and Italy, and one homozygous newborn died in France. Only the French family recognized their Roma background. LAMB3 SNP haplotyping confirmed the link between the apparently unrelated Hungarian, German and Italian male cases, but could not verify the same background in the female newborn from France. Conclusions The estimated age of the mutation corresponds to the time period when Roma were wandering in the Balkans. [ABSTRACT FROM AUTHOR]

Background and Purpose: COVID-19 has made providing in-person care difficult. In most countries, including Hungary, telemedicine has partly served as a resolution for this issue. Our purpose was to explore the effects of COVID-19 on neurological care, the knowledge of neurology specialists on telemedicine, and the present state of telecare in Hungary, with a special focus on Parkinson's disease (PD)., Methods: Between July and October 2021, a nationwide online survey was conducted among actively practicing Hungarian neurology specialists who were managing patients with PD., Results: A total of 104 neurologists were surveyed. All levels of care were evaluated in both publicly funded and private healthcare. Both time weekly spent on outpatient specialty consultation and the number of patients with PD seen weekly significantly decreased in public healthcare, while remained almost unchanged in private care (p<0.001); higher portion of patients were able to receive in-person care in private care (78.8% vs. 90.8%, p<0.001). In telecare, prescribing medicines has already been performed by the most (n=103, 99%). Electronic messages were the most widely known telemedicine tools (n=98, 94.2%), while phone call has already been used by most neurologists (n=95, 91.3%). Video-based consultation has been more widely used in private than public care (30.1% vs. 15.5%, p=0.001). Teleprocedures were considered most suitable for monitoring progression and symptoms of Parkinson's disease and evaluating the need for adjustments to antiparkinsonian pharmacotherapy., Conclusion: COVID-19 has had a major impact on the care of patients with PD in Hungary. Telemedicine has mitigated these detrimental effects; however, further developments could make it an even more reliable component of care.

For the treatment of advanced Parkinson's disease the deep brain stimulation (DBS) and the levodopa/carbidopa intestinal gel (LCIG) therapies are available in Hungary. Although they may have similar impact on the health-related quality of life and disabilities associated with the disease, they have different indications, and inclusion- and exclusion criteria. Consequently, the patient population treated with DBS and LCIG may be different. In the present review, the authors try to help the process of selection of the optimal device-aided therapy for the patients with advanced Parkinson's disease.

Emergence and spread of antimicrobial resistance in Neisseria gonorrhoeae is a major public health concern worldwide. The current study aims to determine the antimicrobial resistance in N. gonorrhoeae and associated molecular typing to enhance gonococcal antimicrobial surveillance in Hungary. In the National N. gonorrhoeae Reference Laboratory of Hungary 187 N. gonorrhoeae infections were detected in 2013, antibiograms were determined for all the isolated strains, and 52 (one index strain from every sexually contact related group) of them were also analysed by the N. gonorrhoeae multi-antigen sequence typing (NG-MAST) method. Twenty-two different NG-MAST sequence types (STs) were identified, of which 8 STs had not been previously described. In Hungary, the highly diversified gonococcal population displayed high resistance to penicillin, ciprofloxacin and tetracycline (the antimicrobials previously recommended for gonorrhoea treatment). Resistance to the currently recommended extended spectrum cephalosporines were rare: only two of the expected strains, an ST 1407 and an ST 210, had cefixime MIC above the resistance breakpoint. By the revision of our National Treatment Guideline, it must be considered, that the azithromycin resistance is about 60% among the four most frequently isolated STs in Hungary.