Perinatal Hypophosphatasia in a Premature Infant
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Severe Perinatal (Lethal) Hypophosphatasia
HPP is a clinically heterogeneous disease and classified into at least six forms according to severity and age of onset: perinatal (lethal), perinatal (benign), infantile (MIM [Mendelian Inheritance in Man] # 241500), childhood (MIM# 241510), adult (MIM# 146300), and odontohypophosphatasia (Mornet, 2008) (Table 1). All forms of HPP display reduced activity of unfractionated serum ALP and the pr...
متن کاملCase Report: Perinatal Lethal Form of Hypophosphatasia
There is no approved curative treatment of hypophosphatasia and management consists of palliating the symptoms, maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary [2] . Enzyme replacement using human recombinant bone targeted alkaline phosphatase which has been tried in infants and juveniles provides promise for improving the outcom...
متن کاملPrenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypop...
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Introduction: Nurses have important role in providing emotional support, decreasing stress and educating the parents to involve them in care of premature infant. The aim of this study was discovering the NICU Nurses’ perception of involving the parents in care of infants. Methods: This qualitative study was carried out based on interpretative phenomenological approach. The study setting was th...
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The authors report a rare case of acute hematogenous osteomyelitis in a premature very low-birth weight infant caused by Neisseria meningitidis, a microorganism which occasionally causes arthritis, but is very rarely involved in bone infections. The strong teamwork of clinicians, the clinical microbiologist and the radiologist allowed the prompt formulation and confirmation of the clinical susp...
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ژورنال
عنوان ژورنال: American Journal of Perinatology Reports
سال: 2020
ISSN: 2157-6998,2157-7005
DOI: 10.1055/s-0040-1709512