NOT EVERY RESPIRATORY FAILURE NOWDAYS IS COVID. POMPE DISEASE

Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase. It is a chronic and progressive disease characterized by storage of glycogen mostly in muscles. Late onset cases typically present with proximal muscle weakness and respiratory insufficiency or exertional dyspnea. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase

Innovative Whole Genome Joint Analysis – case report of early diagnosis and preventive approach to HFE Hemochromatosis

Whole Genome Joint Analysis is an innovative method to elucidate the full spectrum of genome complexities and alterations in the family members, comprehensively and unbiasedly. Once identified in the preclinical phase of the disease, causative variants can anticipate a personalized preventive approach and medical treatment

Palijativno kardiokirurško liječenje u djeteta s Edwardsovim sindromom

Trisomy of the 18th chromosome, also known as Edwards syndrome, occurs in 1:5000 live births. It is accompanied by low birth weight, low-lying ears, micrognathia, flexion contractures of the fingers, hypotonia, structural heart diseases as well as anomalies of other organs, and severe psychomotor retardation. Unfortunately, only 5 to 10% of children live to the first year.Trisomija kromosoma 18 ili Edwardsov sindrom javlja se u 1:5000 živorođene djece. Karakterizira ju niska rodna masa, tipične anomalije poput nisko položenih uški, mikrognatije, fleksijskih kontraktura prstiju šaka, hipotonije, strukturnih bolesti srca i drugih organa uz teško psihomotorno zaostajanje. Očekivani životni vijek je zbog spomenutih anomalija iznimno skraćen, samo 5 do 10% djece doživi prvu godinu. Stoga se ovaj sindrom smatra teško spojivim sa životom, a medicinske intervencije kod živorođenih su uglavnom u domeni palijativne skrbi

Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease

Pediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiasedly

Palijativno kardiokirurško liječenje u djeteta s Edwardsovim sindromom

Trisomy of the 18th chromosome, also known as Edwards syndrome, occurs in 1:5000 live births. It is accompanied by low birth weight, low-lying ears, micrognathia, flexion contractures of the fingers, hypotonia, structural heart diseases as well as anomalies of other organs, and severe psychomotor retardation. Unfortunately, only 5 to 10% of children live to the first year.Trisomija kromosoma 18 ili Edwardsov sindrom javlja se u 1:5000 živorođene djece. Karakterizira ju niska rodna masa, tipične anomalije poput nisko položenih uški, mikrognatije, fleksijskih kontraktura prstiju šaka, hipotonije, strukturnih bolesti srca i drugih organa uz teško psihomotorno zaostajanje. Očekivani životni vijek je zbog spomenutih anomalija iznimno skraćen, samo 5 do 10% djece doživi prvu godinu. Stoga se ovaj sindrom smatra teško spojivim sa životom, a medicinske intervencije kod živorođenih su uglavnom u domeni palijativne skrbi

Obiteljski hipofosfatemijski rahitis: genetska osnova, prikaz slučaja te novi pristupi u liječenju

Familial hypophosphatemic rickets (X-linked hypophosphatemic rickets) is a metabolic bone disease characterized by an increase in systemic circulating fibroblast growth factor-23 due to an inactivating mutation in the PHEX gene and consequential phosphate wasting leading to rickets.Obiteljski hipofosfatemijski rahitis (X-vezani hipofosfatemijski rahitis) je metabolička bolest kostiju karakterizirana povišenom koncentracijom faktora rasta fibroblasta 23 zbog inaktivirajuće mutacije gena PHEX, urinarnim gubitkom fosfata i kliničkom slikom rahitisa