Genetic analysis of a Chinese pedigree with 18q21.2-q22.3 duplication and deletion in two offspring respectively resulting from a maternal intrachromosomal insertion / 中华医学遗传学杂志

OBJECTIVE@#To provide prenatal diagnosis, pedigree analysis and genetic counseling for a pregnant woman who had given birth to a child featuring global developmental delay.@*METHODS@#A pregnant woman who underwent prenatal diagnosis at the Affiliated Hospital of Southwest Medical University in August 2021 was selected as the study subject. Peripheral blood samples were collected from the woman, her husband and child, in addition with amniotic fluid sample during mid-pregnancy. Genetic variants were detected by G-banded karyotyping analysis and copy number variation sequencing (CNV-seq). Pathogenicity of the variant was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Candidate variant was traced in the pedigree to assess the recurrence risk.@*RESULTS@#The karyotypes of the pregnant woman, her fetus, and affected child were 46,XX,ins(18)(p11.2q21q22), 46,X?,rec(18)dup(18)(q21q22)ins(18)(p11.2q21q22)mat and 46,XY,rec(18)del(18)(q21q22)ins(18)(p11.2q21q22)mat, respectively. Her husband was found to have a normal karyotype. CNV-seq has revealed a 19.73 Mb duplication at 18q21.2-q22.3 in the fetus and a 19.77 Mb deletion at 18q21.2-q22.3 in her child. The duplication and deletion fragments were identical to the insertional fragment in the pregnant woman. Based on the ACMG guidelines, the duplication and deletion fragments were both predicted to be pathogenic.@*CONCLUSION@#The intrachromosomal insertion of 18q21.2-q22.3 carried by the pregnant woman had probably given rise to the 18q21.2-q22.3 duplication and deletion in the two offspring. Above finding has provided a basis for genetic counseling for this pedigree.

Risk factors of hip fracture in elderly patients from Yongkang,Zhejiang province / 中国基层医药

Objective To explore the risk factors of hip fracture in elderly patients from Yongkang.Methods From August 2014 to August 2016,468 elderly patients with hip fracture admitted to Department of Orthopedics, Orthopedics Hospital of Yongkang were prospectively collected as study group,and 150 elderly people admitted to Orthopedics Hospital of Yongkang and Community Health Service Center for health examination were randomly selected as control group.The complications,daily living habits,bone density and menstruation of the female were observed between the two groups.Results Compared with the control group,the incidence rate of diabetes in the study group increased significantly(28.63% vs.12.67%,χ2 =15.544,P =0.000),the rate of height decreased more than 3cm increased significantly (16.88% vs.8.00%,χ2 =7.134,P =0.008),the proportion of long -term use of hormone significantly increased (18.59% vs.10.00%,χ2 =6.082,P =0.014),the rate of physical exercise decreased signif-icantly (14.32% vs.22.67%,χ2 =5.793,P =0.016),the rate of bed ridden increased significantly (5.34% vs 1.33%,χ2 =4.369,P =0.037),the bone density of femoral neck decreased significantly[(0.99 ±0.12)g/cm2 vs. (1.10 ±0.12)g/cm2 ,t =10.139,P =0.000].When it came to the females,the rate of menopause before the age of 45 years in the study group was higher than that in the control group (33.23% vs.22.22%,χ2 =4.299,P =0.038).Conclusion Diabetes,height decrease >3 cm,long -term use of hormones,lack of physical exercise,bed ridden and bone density decrease are risk factors of hip fracture in elderly people from Yongkang,and menopause before the age of 45 is a risk factor for hip fracture in elderly women.

Etiological, clinical and neuroimaging features of symmetric corpus callosum lesions of 27 ;patients / 中国医师进修杂志

Objective To investigate the etiological, clinical and neuroimaging features of symmetric corpus callosum lesions. Methods The clinical data of 27 patients with symmetric corpus callosum lesions were analyzed including the etiological, clinical and neuroimaging data retrospectively. Results In 27 patients, 16 patients suffered from chronic alcoholic encephalopathy, 5 patients suffered from viral encephalitis, 2 patients suffered from disturbance of water and electrolyte, 1 patient suffered from acute disseminated encephalomyelitis(ADEM), 2 patients suffered from brain trauma, and the etiology of 1 patient was unknown. Clinical manifestation: 8 patients had conscious disturbance, 5 patients had psychological and behavior disorder, 5 patients had epileptic seizure, 4 patients had ataxia, 3 patients had dysarthria and 2 patients had headache. There were abnormalities in CT scans and MRI. Manifestations in CT scans were symmetric low-density focus with clear boundary in corpus callosum. The performance in MRI was low-signals on T1WI but high signals on T2WI and DWI images, and there might be other intracranial lesions. In the follow-up period, foci disappeared in 15 patients, and foci persisted in 7 patients. Four patients lost in follow-up periods, and 1 patient was not followed up because of death. Conclusions The causes of symmetric corpus callosum lesions include chronic alcoholic encephalopathy, infections, disturbance of water and electrolyte and demyelination. And in some patients the cause is unknown up to now. The etiological treatment and symptomatic treatment are the common treating ways in clinic.