نتایج جستجو برای: pulmonary alveolar microlithiasis
تعداد نتایج: 267982 فیلتر نتایج به سال:
Pulmonary alveolar microlithiasis (PAM) is a rare chronic genetic lung disease in childhood with no proven therapy. It is characterized by the deposition of calcium phosphate microliths within the alveolar air spaces. The effect of disodium etidronate (DE) treatment on PAM is controversial. We report 3 siblings (an 11-year-old boy and 4-year-old twin girls) with PAM diagnosed by chest X-ray, th...
We describe the first known use of volume-controlled bronchopulmonary lavage in a case of alveolar microlithiasis. Although the procedure has often been discussed in the literature as theoretically useful in the therapy for this disease, in our case it showed no efficacy in clearing the alveolar spherules.
A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a singl...
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