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Child Psychiatry & Human Development - All children are vulnerable to pedestrian injuries, but previous research suggests children diagnosed with ADHD may have elevated risk. Child pedestrian...  相似文献   
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BackgroundInfantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding phospholipase A2, are recognized to be the fundamental reason for infantile neuroaxonal dystrophy. This study aimed to detect pathogenic variant in a consanguine Iranian family with infantile neuroaxonal dystrophy.MethodsThe mutation screening was done by whole exome sequencing followed by direct Sanger sequencing.ResultsWe identified a homozygous insertion mutation, NM_003560: c.1548_1549insCG (p.G517Rfs*29) in exon 10 of PLA2G6 in the patient. The parents were heterozygous for variant.ConclusionsBecause of the clinical heterogeneity and rarity of infantile neuroaxonal dystrophy, whole exome sequencing is critical to confirm the diagnosis and is an excellent tool for INAD management.  相似文献   
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Noscapine suppresses angiotensin converting enzyme inhibitors-induced cough   总被引:1,自引:0,他引:1  
BACKGROUND: Dry cough is a common side-effect of the angiotensin converting enzyme inhibitors (ACEI) and is a major limiting factor of their use. It has been suggested that ACEI cause this side-effect by potentiation of the bradykinin effect. Previous work in our laboratory has shown that noscapine, an antitussive drug, inhibits the effect of bradykinin. METHODS: To investigate the effect of noscapine on ACEI-induced cough, 611 hypertensive patients who were being treated with ACEI were evaluated for the incidence of persistent dry cough. RESULTS: A cough had developed in 65 (10.6%) patients, two (3.1%) of whom also had severe respiratory distress that required hospitalisation and immediate discontinuation of the ACEI. Forty-two (64.6%) patients had developed a mild cough and 21 (32.3%) patients had developed a moderate to severe cough. The patients with moderate to severe cough received 15 mg of noscapine, orally three times daily, while they continued ACEI. Noscapine effectively resolved the cough in 19 (90%) patients within 4-9 days of starting treatment. CONCLUSION: Noscapine, possibly by inhibition of bradykinin synthesis, eliminates ACEI-induced cough in the majority of patients and allows them to continue with ACEI therapy.  相似文献   
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BACKGROUND AND AIMS: Vitamin D deficiency is one of the major health problems and unexpectedly has a high prevalence in sunny countries (e.g. Middle East). In this study we determined the prevalence of vitamin D deficiency in pregnant women and their newborns in Isfahan, a sunny city in Iran. METHODS: In a cross-sectional study, 88 newborns born in Beheshty hospital, affiliated to Isfahan University of Medical Sciences (August-September, 2005) and their mothers were studied. Their data were collected by questionnaires and blood sampling was done to measure serum alkaline phosphatase (ALP), calcium, phosphorus, 25 (OH) vitamin D and parathormone (PTH). Vitamin D deficiency defined as levels of 25 (OH) D < 20 and < 12.5 ng/ml for mothers and newborns, respectively and local cut-offs defined as levels in which mean serum PTH started to increase. RESULTS: The prevalence of vitamin D deficiency according to 25 (OH) D < 20 ng/ml in mothers and < 12.5 ng/ml in newborns was 5.7% and 4.5%, respectively. According to local cut-offs (35 ng/ml for mothers and 26 ng/ml for newborns) 26.1% of mothers and 53.4% of newborns were vitamin D deficient. CONCLUSION: According to local definition, vitamin D deficiency is a health problem in pregnant women and their newborns in this sunny city.  相似文献   
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Recurrences of COVID‐19 infection may occur in immunocompromised patients. Reinfection or reactivation of COVID‐19 virus is a challenging issue in these patients.  相似文献   
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