ABSTRACT
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
ABSTRACT
The clinical characteristics of a case of fetal alcohol syndrome (FAS) diagnosed by Shenzhen Children′s Hospital were summarized.The patient was 6 years and 4 months old, and admitted to the hospital because of her " slow growth of height for more than 6 years" . There was a history of alcohol exposure in the fetus.The infant was born with low body mass, and grew slowly in height and body mass after birth.She was diagnosed with FAS due to typical facial features of FAS, microcephalia, poor memory and narrative ability.The effect of alcohol exposure during pregnancy on fetus is permanent, and abstinence is the only way to prevent FAS.In this paper, the clinical characteristics of FAS were summarized and the literature was reviewed in order to improve the clinical understanding of the disease.
ABSTRACT
Objective To discuss the expression and clinical significance of vascular endothelial growth factor (VEGF)-C and nm23-H1 in colorectal carcinoma.Methods Immunohistochemical staining was employed to determine the expression of VEGF-C and nm23-H1 in the carcinoma tissues of 120 cases with colorectal carcinoma and in the adjacent mucosal tissues of 55 cases as control,and analyzed their correlation with cliniopathological features and prognosis.Results The positive expression of VEGF-C in the carcinoma tissues was 71.7％ (86/120),significantly higher than that in the adjacent mucosal tissues [21.8 ％ (12/55)],and there was significant difference (x2 =35.186,P ＜ 0.01).The positive expression of nm23-H1 in the carcinoma tissues was 57.5％ (69/120),significantly lower than that in the adjacent mucosal tissues [90.9％ (50/55)],and there was significant difference (x2 =18.351,P ＜ 0.01).The expression of VEGF-C was significantly correlated with lymph node metastasis (P ＜ 0.05),and the expression of nm23-H 1was significantly correlated with lymph node metastasis and pathological type (P ＜0.01 or ＜0.05).The expression of VEGF-C and nm23-H1 did not show a significant correlation with gender,age,tumor size,tumor site and depth of invasion (P ＞ 0.05).Spearman correlation analysis showed that the expression of VEGF-C was negatively correlated with the expression of nm23-H 1 in colorectal carcinoma (r =-0.472,P ＜0.01).Conclusions The joint detection of VEGF-C and nm23-H1 expression is very promising in prediction of the prognosis of patients with colorectal carcinoma.However,whether it can be used as a marker in prognosis judgment need further investigation.