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OBJECTIVE@#To analyze the genetic etiology of a Chinese pedigree affected with short stature.@*METHODS@#A child with familial short stature (FSS) who had presented at the Ningbo Women and Children's Hospital in July 2020 and his parents and paternal and maternal grandparents were selected as the study subject. Clinical data of the pedigree was collected, and the proband was subjected to routine growth and development assessment. Peripheral blood samples were collected. The proband was subjected to whole exome sequencing (WES), and the proband, his parents and grandparents were subjected to chromosomal microarray analysis (CMA).@*RESULTS@#The height of the proband and his father was 87.7cm (-3 s) and 152 cm (-3.39 s) respectively. Both of them were found to harbor a 15q25.3-q26.1 microdeletion, which has encompassed the whole of the ACAN gene which is closely associated with short stature. The CMA results of his mother and grandparents were all negative, and above deletion has not been included in population database and related literature, and was rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). After 14 months of rhGH treatment, the height of the proband has increased to 98.5 cm (-2.07 s).@*CONCLUSION@#The 15q25.3-q26.1 microdeletion probably underlay the FSS, in this pedigree. Short-term rhGH treatment can effectively improve the height of the affected individuals.
Assuntos
Criança , Feminino , Humanos , Masculino , Agrecanas/genética , Nanismo/genética , População do Leste Asiático , Mutação , LinhagemRESUMO
MicroRNA(miRNA) is a sort of noncoding RNA, containing 19-20 nucleotides, for regulating gene function at the post-transcription level. The discovery of miRNA opens a new window for the research of gene expression, which plays an important role in regulating the proliferation and death of cell, the differentiation of neurocyte, and ontogeny, etc. Recently, it has been found that the miRNA molecules is closely related to the formation of fatty liver disease. Studying the effects and mechanisms of miRNA and fatty liver disease may become a new breakthrough point for the therapy of the disease.
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Objective To observe the clinical curative effects of treating endometriosis with decoction for removing blood stasis.Methods 49 patients with endometriosis were randomly divided into a treatment group and a control group.The treatment group was treated with decoction for removing blood stasis with one dosage per day until menstruation began.The control group was taken gestrinone orally with 2.5mg for each time,twice per week and contraception methods were taken dunng the therapeutic period.Results The treatment group had abetter recovery rate of symptoms and signs of pain than the control group(P＜0.05).Conclusion Decoction for removing blood stasis had good clinical effects in treating endometriosis.