Epidermolysis bullosa congenita (EB) je vzácné vrozené dědičné onemocnění s projevy na kůži a sliznicích, s postiženími vnitřních orgánů. Klinické obrazy čtyř základních typů EB jsou velmi pestré, závislé na patogenních sekvenčních variantách 20 genů. MuLtioborový tým specialistů EB Centra FN Brno pečuje o děti i dospělé pacienty s EB z ČR i zahraničí. Úzká je spolupráce EB Centra s pacientskou organizací Debra ČR. EB Centrum FN Brno je členem mezinárodního týmu klinických expertů EB CLinet a ERN-Skin.
Epidermolysis bullosa congenita (EB) is a rare, congenital, hereditary disease with manifestations on the skin and mucous membranes, with involvement of internal organs. The clinical pictures of the 4 basic types of EB are very varied, depending on pathogenic sequence variants of 20 genes. A multidisciplinary team of EB specialists at the EB Centre of the University Hospital Brno cares for children and adult patients with EB from the Czech Republic and abroad. The EB Centre is a member of the international team of clinical experts EB Clinet and ERN-Skin.
- Publication type
- Meeting Abstract MeSH
Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic analysis results of probands with X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, and a patient with Netherton syndrome. Genetic diagnostics was complemented by in silico missense variant analysis based on 3D protein structures and commonly used prediction programs to compare the yields of these two approaches to each other. This analysis revealed various structural defects in proteins coded by mutated genes while no defects were associated with known polymorphisms. Two patients with pathogenic variants in the ABCA12 gene have a premature termination codon mutation on one allele and a silent variant on the second. The silent variants c.69G > A and c.4977G > A are localised in the last nucleotide of exon 1 and exon 32, respectively, and probably affect mRNA splicing. The phenotype of both patients is very severe, including a picture harlequin foetus after birth; later (at 3 and 6 years of age, respectively) ectropin, eclabion, generalised large polygonal scaling and erythema.
- MeSH
- ATP-Binding Cassette Transporters genetics MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease genetics MeSH
- Ichthyosis etiology genetics MeSH
- Humans MeSH
- Codon, Nonsense genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
Dyadic interactions often involve a dynamic process of mutual reciprocity; to steer a series of exchanges towards a desired outcome, both interactants must adapt their own behaviour according to that of their interaction partner. Understanding the brain processes behind such bidirectional reciprocity is therefore central to social neuroscience, but this requires measurement of both individuals' brains during real-world exchanges. We achieved this by performing functional magnetic resonance imaging (fMRI) on pairs of male individuals simultaneously while they interacted in a modified iterated Ultimatum Game (iUG). In this modification, both players could express their intent and maximise their own monetary gain by reciprocating their partner's behaviour - they could promote generosity through cooperation and/or discourage unfair play with retaliation. By developing a novel model of reciprocity adapted from behavioural economics, we then show that each player's choices can be predicted accurately by estimating expected utility (EU) not only in terms of immediate payoff, but also as a reaction to their opponent's prior behaviour. Finally, for the first time we reveal that brain signals implicated in social decision making are modulated by these estimates of EU, and become correlated more strongly between interacting players who reciprocate one another.
- MeSH
- Economics, Behavioral * MeSH
- Adult MeSH
- Interpersonal Relations * MeSH
- Cooperative Behavior MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Brain Mapping methods MeSH
- Young Adult MeSH
- Brain physiology MeSH
- Decision Making * MeSH
- Game Theory * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis. We report the progression of clinical and radiographic findings in five patients with Hajdu-Cheney syndrome from two families. A custom capture array designed to capture exons and adjacent intron sequences of 230 selected genes were used for molecular analyses, and the pathogenic variants identified were confirmed by PCR and Sanger sequencing. In both families we observed age-dependent changes in the disease, with a progression of pain in older patients, a shortening of digits and nail beds on both the hands and feet, kyphoscoliosis and the persistence of Wormian bones in lambdoid sutures. Molecular analyses performed in two patients revealed that they are heterozygotes for a c.6255T>A (p.Cys2085*) variant in the NOTCH2 gene, resulting in a premature stop-codon. Bone mineral density (Z-score < -2) did not improved in a girl treated with calcium and vitamin D supplementation during childhood and bisphosphonate during adolescence. Hajdu-Cheney syndrome is a slowly progressive disease with a frequently unfavourable prognosis in elderly patients, especially for the development of dental anomalies, osteoporosis and the progression of skeletal complications requiring orthopedic surgeries.
- MeSH
- Child MeSH
- Hajdu-Cheney Syndrome * complications pathology MeSH
- Bone Density MeSH
- Humans MeSH
- Adolescent MeSH
- Osteoporosis * etiology MeSH
- Prognosis MeSH
- Disease Progression MeSH
- Aged MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Epidermolysis Bullosa Dystrophica diagnosis genetics physiopathology MeSH
- Epidermolysis Bullosa, Junctional diagnosis genetics physiopathology MeSH
- Epidermolysis Bullosa Simplex diagnosis genetics physiopathology MeSH
- Epidermolysis Bullosa * diagnosis genetics physiopathology MeSH
- Humans MeSH
- Sequence Analysis, DNA MeSH
- Check Tag
- Humans MeSH
[Classic form of Ehlers-Danlos syndrome]
Vzácná onemocnění, Ehlersovy-Danlosovy syndromy, patří do skupiny dědičných chorob pojivové tkáně. Projevují se hypermobilitou kloubů, zvýšenou elasticitou a křehkostí kůže, vznikem pseudotumorů a zejících jizev. Původní klasifikace podle Villefranche (1997) dělila syndrom Ehlersův-Danlosův (EDS) do 6 skupin. Nová klasifikace 2017 vychází ze současných poznatků molekulární diagnostiky a rozlišuje 13 subtypů Ehlersových-Danlosových syndromů. Autoři prezentují čtyřletého pacienta s klasickým subtypem EDS, který byl potvrzen histologickým vyšetřením kůže pacienta a DNA analýzou, při které byla zjištěna dosud nepopsaná mutace (patogenní sekvenční varianta) c.1048insG p.Ser350Cysfs*4 v 7. exonu genu COL5A1. Současně představují novou klasifikaci.
Ehlers-Danlos syndromes belong to the group of inherited connective tissue disorders characterized by increased skin elasticity, joint hypermobility, cutaneous fragility with formation of pseudotumors and gaping scars. Original classification by Villefranche (1997) divided Ehlers-Danlos syndrome into 6 groups. New classification (2017) supported by molecular analysis distinguishes 13 subtypes of Ehlers-Danlos syndromes. We present a case of 4-year old boy with classic EDS confirmed by histological skin examination and DNA analysis revealing yet non- published mutation (sequence variant) c.1048insG p.Ser350Cysfs*4 in the 7th exon of the COL5A1 gene.
- Keywords
- kožní hyperextenzibilita,
- MeSH
- Diagnosis, Differential MeSH
- DNA analysis MeSH
- Ehlers-Danlos Syndrome * diagnosis classification therapy MeSH
- Skin Diseases, Genetic MeSH
- Pregnancy Complications MeSH
- Skin anatomy & histology pathology MeSH
- Humans MeSH
- Mutation MeSH
- Joint Instability MeSH
- Spine diagnostic imaging MeSH
- Child, Preschool MeSH
- Rare Diseases MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Case Reports MeSH
- Publication type
- Meeting Abstract MeSH
