نتایج جستجو برای: Ichthyosis fetal
تعداد نتایج: 89332 فیلتر نتایج به سال:
Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn’t clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after...
INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...
M ost statistics on the incidence of hereditary ichthyosis are acknowledged as best-guess estimates. The exceptions are population-based studies for the prevalence of steroid sulfatase deficiency (xlinked ichthyosis) and mutations in filaggrin (ichthyosis vulgaris). We wondered whether the unique International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code for...
Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse mode...
harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of dna-based prenatal diagnosis. here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (art). in this case, the diagnosis of harlequin ichthyosis was n...
OBJECTIVES Undetectable maternal serum unconjugated estriol levels in the second-trimester screening test have been associated with congenital pathology and an adverse pregnancy outcome. We reviewed outcomes of pregnancies with undetectable levels of estriol (<0.25 ng/ml) in the triple-marker screening test and assessed the clinical value of this finding. METHODS We studied estriol values in ...
IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected ...
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