Epidermolytic Ichthyosis Sine Epidermolysis

Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI

Mikrosfere ropinirol hidroklorida za polagano oslobađanje: Utjecaj procesnih parametara

An emulsion solvent evaporation method was employed to prepare microspheres of ropinirole hydrochloride, a highly water soluble drug, by using ethylcellulose and PEG with the help of 32 full factorial design. The microspheres were made by incorporating the drug in a polar organic solvent, which was emulsified using liquid paraffin as an external oil phase. Effects of various process parameters such as viscosity of the external phase, selection of the internal phase, surfactant selection and selection of stirring speed were studied. Microspheres were evaluated for product yield, encapsulation efficiency and particle size. Various drug/ethylcellulose ratios and PEG concentrations were assayed. In vitro dissolution profiles showed that ethylcellulose microspheres were able to control release of the drug for a period of 12 h.Mikrosfere ropinirol hidroklorida, ljekovite tvari vrlo dobro topljive u vodi, pripravljene su metodom isparavanja otapala, koristeći etilcelulozu i PEG te 32 potpuno faktorijalno dizajniranje. Mikrosfere su pripravljene na sljedeći način: otopina ljekovite tvari u polarnom organskom otapalu emulgirana je s tekućim parafinom kao vanjskom uljnom fazom. Ispitivan je utjecaj različitih procesnih parametara poput viskoznosti vanjske faze, vrste interne faze i površinski aktivne tvari te brzine miješanja. Za pripravljene mikrosfere određeno je iskorištenje, učinkovitost inkapsuliranja i veličina čestica. Isprobavani su različiti odnosi ljekovite tvari i etilceluloze te koncentracija PEG-a. In vitro pokusi su pokazali da je oslobađanje ljekovite tvari kontrolirano tijekom 12 h

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

BACKGROUND: \u3b1/\u3b2-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis. CASE PRESENTATION: We describe here a 5-years-old Brazilian child who presented with NCIE at birth and diffuse micro and macro-vesicular steatosis on liver biopsy since she was 2 years old. Molecular analysis of coding sequence and putative 5' regulatory region of ABHD5 gene was performed. A homozygous novel deletion, affecting the promoter region and the exon 1, was identified, confirming the suspected diagnosis of CDS for this patient. RT-PCR analysis showed that the genomic rearrangement completely abolished the ABHD5 gene expression in the patient, while only a partial loss of expression was detected in her parents. This is the first report describing the identification of a large deletion encompassing the promoter region of ABHD5 gene. The total loss of ABHD5 expression may explain the early onset of CDS and the severe liver involvement. After molecular diagnosis, the patient started a special diet, poor in fatty acids with medium chain triglycerides (MCT), and showed hepatic and dermatologic improvement in spite of severe molecular defect. CONCLUSIONS: This case report extends the spectrum of disease-causing ABHD5 mutations in CDS providing evidence for a novel pathogenic mechanism for this rare disorder. Moreover, our preliminary data show that early diagnosis and prompt treatment of neutral lipid accumulation might be useful for CD patients