Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

The two aims of this study were (i) to describe and expand the phenotypic spectrum of PIGT deficiency in affected individuals harboring the c.1582G>A; p.Val528Met or the c.1580A > G; p.Asn527Ser variant in either homozygous or compound heterozygous state, and (ii) to identify potential genotype-phenotype correlations and any differences in disease severity among individuals with and without the PIGT variants. The existing literature was searched to identify individuals with and without the two variants. A detailed phenotypic assessment was performed of 25 individuals (both novel and previously published) with the two PIGT variants. We compared severity of disease between individuals with and without these PIGT variants. Twenty-four individuals carried the PIGT variant Val528Met in either homozygous or compound heterozygous state, and one individual displayed the Asn527Ser variant in a compound heterozygous state. Disease severity in the individual with the Asn527Ser variant was compatible with that in the individuals harboring the Val528Met variant. While individuals without the Asn527Ser or Val528Met variant had focal epilepsy, profound developmental delay (DD), and risk of premature death, those with either of the two variants had moderate to severe DD and later onset of epilepsy with both focal and generalized seizures. Individuals homozygous for the Val528Met variant generally became seizure-free on monotherapy with antiepileptic drugs, compared to other PIGT individuals who were pharmaco-resistant. Two patients were diagnosed with myoclonic-atonic seizures, and a single patient was diagnosed with eyelid myoclonia. Our comprehensive analysis of this large cohort of previously published and novel individuals with PIGT variants broadens the phenotypical spectrum and shows that both Asn527Ser and Val528Met are associated with a milder phenotype and less severe outcome. Our data show that PIGT is a new candidate gene for myoclonic atonic epilepsy. Our genotype-phenotype correlation will be useful for future genetic counseling. Natural history studies of this mild spectrum of PIGT-related disorder may shed light on hitherto unknown aspects of this rare disorder

A frequency dictionary of Oold English prose for learners of Old English and historical linguists

A Frequency Dictionary of Old English Prose is a list of Old English words arranged according to their frequency, covering the whole York–Toronto–Helsinki Parsed Corpus of Old English Prose (Taylor et al. 2003), i.e. an electronic collection of all prose texts written in Old English. Thus, if you want to get a quick insight into a prose text written in Old English, you should start your study with the first entries. The dictionary includes all the words which occur at least 25 times in the corpus (over 2,700 entries altogether). Each lexical item is accompanied by its part of speech classification, translation into Modem English, an authentic example from the corpus (carefully handpicked to include the most basic words and thus be understandable even to beginners), the absolute frequency of the word in the corpus and the number of texts where it appears at least onceFundator badań: Fundator badań: Optional.empt

Analysis of superficial mycoses in children examined in 2013–2016 in the Unit of Medical Mycology at the Department of Dermatology, Poznan University of Medical Sciences

Introduction. The superficial mycoses remain a group of diseases of public health significance. The increased incidence of mycoses is related, among other factors, to deficiency of the immune system, coexisting systemic and dermatological diseases, long-term, non-target antibiotic therapy and the increase in the number of people at risk of immunosuppression. Objective. To analyze the etiology and epidemiology of mycosis in patients under 18 years of age in the years 2013–2016 diagnosed in the Unit of Medical Mycology at the Department of Dermatology, Poznan University of Medical Sciences. Material and methods . A retrospective, etiological and epidemiological analysis was performed on the incidence of superficial mycosis in 295 patients under 18 years of age diagnosed in the years 2013–2016 in the Unit of Medical Mycology at the Department of Dermatology, Poznan University of Medical Sciences. Results . The study group included mostly cases of dermatophytic superficial mycosis of the scalp with prevalent zoophilic species, including Microsporum canis as the most common. Conclusions. Superficial mycoses are common during childhood. Increased incidence of certain forms of superficial mycoses in children has been observed, for example infections transmitted from exotic animals or onychomycosis

A frequency dictionary of Old English prose for learners of Old English and historical linguists

A Frequency Dictionary of Old English Prose is a list of Old English words arranged according to their frequency, covering the whole York–Toronto–Helsinki Parsed Corpus of Old English Prose (Taylor et al. 2003), i.e. an electronic collection of all prose texts written in Old English. Thus, if you want to get a quick insight into a prose text written in Old English, you should start your study with the first entries. The dictionary includes all the words which occur at least 25 times in the corpus (over 2,700 entries altogether). Each lexical item is accompanied by its part of speech classification, translation into Modem English, an authentic example from the corpus (carefully handpicked to include the most basic words and thus be understandable even to beginners), the absolute frequency of the word in the corpus and the number of texts where it appears at least once