Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.

• MeSH
• dentinogenesis imperfecta diagnóza   genetika   mortalita   MeSH
• dítě MeSH
• erbB receptory nedostatek   genetika   MeSH
• homozygot MeSH
• ichtyóza diagnóza   genetika   mortalita   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mutace ztráty funkce MeSH
• nemoci ledvin vrozené   diagnóza   genetika   mortalita   MeSH
• novorozenec nedonošený MeSH
• novorozenec s velmi nízkou porodní hmotností MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Romové genetika   MeSH
• sekvenování exomu MeSH
• stupeň závažnosti nemoci MeSH
• syndrom MeSH
• vrozené srdeční vady diagnóza   genetika   mortalita   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH

It is well known that in patients with obstructive sleep apnea syndrome (OSAS) the apnea-hypopnea index (AHI) is significantly decreased during slow wave sleep (SWS). It used to be explained by the ability of SWS to stabilize the upper airways against collapse. Another explanation, which is the focus of the current study, is that it is just a result of high instability of SWS to obstructive apnea exposure, i.e. high susceptibility of SWS to transition into lighter sleep stages during exposure to obstructive apneas. A retrospective chart review was performed on 560 males who underwent an overnight polysomnography. Two hundred and eighty-seven patients were eligible for the study. They were divided into 3 groups according to different AHI level. All three groups had a higher SWS occurrence in the lateral position than in the supine position. A special fourth group of patients was created with severe OSAS in the supine position but with very mild OSAS in the lateral position. This group had, in the lateral position, (A) higher AHI in NREM sleep (4.1+/-3.1/h vs. 0.7+/-1.2/h, p<0.001) as well as (B) higher SWS occurrence (27.7+/-15.0 % vs. 21.4+/-16.2 % of NREM sleep, p<0.05), than the group with the lowest AHI in the study, i.e. AHI<5/h in NREM sleep. These data suggest that strong coincidence between SWS and low AHI is the result of the high instability of SWS to obstructive apnea exposure. The data also support the presence of SWS-rebound in OSAS patients in the lateral body position.

• MeSH
• dýchání * MeSH
• lidé MeSH
• mozek patofyziologie   MeSH
• obstrukční spánková apnoe diagnóza   patofyziologie   MeSH
• plíce patofyziologie   MeSH
• polohování pacienta * MeSH
• retrospektivní studie MeSH
• spánek pomalých vln * MeSH
• stupeň závažnosti nemoci MeSH
• supinační poloha * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH