17 beta-hydroxysteroid dehydrogenase 3 deficiency due to novel compound heterozygous variants of HSD17B3 gene in a sib pair / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency.@*METHODS@#Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4).@*CONCLUSION@#The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.

Clinical features of 109 cases with corona virus disease 2019 / 中华传染病杂志

Objective:To observe the epidemiology, clinical manifestations, laboratory tests, imaging findings, treatment and prognosis of patients with corona virus disease 2019.Methods:Clinical data of 109 patients with suspected and definite corona virus disease 2019 admitted to the Sixth Hospital of Wuhan from December 24, 2019 to January 28, 2020 were retrospectively analyzed. Statistical analysis was performed by using t test or chi-square test. Results:Among the 109 patients, 54(49.5%) patients had definite contact history. Among the 109 patients, 104(95.4%) presented with fever, 37(33.9%) with headache, 78(71.6%) with general pain, 88(80.7%) with fatigue and poor appetite, 23(21.1%) with diarrhea, 94(86.2%) with coughing, 23(21.1%) with shortness of breath, 57(52.3%) with palpitation, 45(41.3%) with chest distress, 4(3.7%) with chest pain, 40(36.7%) with lung rales. Forty-two cases (38.5%) had leukocyte count <4×10 9/L, 58 cases (53.2%) had lymphocyte count <1.5×10 9/L, 27 cases (24.8%) had hemoglobin <120 g/L, 37 cases (33.9%) had lactic dehydrogenase (LDH) >230 mmol/L, 29 cases (26.6%) had pro-brain natriuretic peptide>300 ng/mL, 87 cases (79.8%) had hypersensitive C reactive protein>10 mg/L, 26 cases (23.9%) had D-dimer>0.5 mg/L, 35 cases (32.1%) had coagulation disorder. On admission, chest computed tomography showed that 27 cases (24.8%) of pneumonia were unilateral, 82 cases (75.2%) were bilateral, and most of them were ground glass. The leukocyte counts, LDH, pro-brain natriuretic peptide and D-dimer of severe/critical cases ((11.33±4.87)×10 9/L, (527.51±260.87) mmol/L, (722.88±189.56) μg/L, (4.24±1.89) mg/L, respectively) were all higher than those of common cases ((4.02±1.49)×10 9/L, (159.75±30.31) mmol/L, (428.22±124.76) μg/L and (0.41±0.22) mg/L, respectively), while the lymphocyte count of severe/critical cases ((0.60±0.17)×10 9/L) was lower than common cases ((1.13±0.43)×10 9/L) ( t=11.36, 11.33, 9.81, 2.81 and 7.77, respectively, all P<0.05). The comprehensive treatment included antiviral drugs, prevention of bacterial infection and supportive treatment, and glucocorticoid and respiratory support treatment were administrated when necessary. Conclusions:The corona virus disease 2019 is characterized by highly infectious, rapid progression, and diverse clinical and imaging features. Early diagnosis and active comprehensive treatment could improve the prognosis and reduce the mortality.

Etiology and bone age of 2132 children with short stature / 临床儿科杂志

ObjectiveThe aim of this study is to analyze the etiology and status of bone age of children with short stat-ure.MethodsAnthropological and physical examination data were retrospectively collected and studied in 2132 children with short stature in the department of endocrinology between 2009 and 2014. Growth hormone (GH) levels were determined by ar-ginine-clonidine test. Bone age was determined by CHN scoring.ResultsAmong the 2132 patients, 1333 were males and 799 were females. Mean age is 9.03 ± 3.04 years old, mean bone age is 6.81 ± 3.05 years. Of them, 324 cases (15.2%) were diagnosed complete GH deifciency, 780 cases (36.59%) were partial GH deifciency, 27cases (1.27%) were multiple pituitary hormone de-ifciency, 13 cases (1.64%) were hypothyroidism, 893 cases (41.89%) were idiopathic short stature, 19 cases (0.89%) were small for gestational age (SGA), 40 cases (1.88%) were chromosomal disorders, etc. Signiifcant difference in age and bone age was found using t test (P<0.05). Signiifcant differences in Δage were found between etiological categories using ANOVA (P=0.000). Δage was signiifcantly and negatively associated with peak GH using Pearson's correlation.ConclusionsGH deifciency is the most common cause of short stature. Bone age of children with short stature is commonly delayed. Δage was signiifcantly and negatively associated with peak GH. Multiple pituitary hormone deifciency has a signiifcant effect on bone age. The etiology of patients with short stature cannot be determined just by bone age.