Objective:To determine the effects of angiogenesis in c ervical lymph node metastasis and progression of squamous cell carcinomas of gin giva (GSCC), and the distribution and expression of vascular endothelial growth factor (VEGF) in GSCC.Methods: Paraffin sections of surg ically obtained GSCC samples from 42 patients were stained with CD34 monoclon al antibody by immunohistochemical S P method to demonstrate blood vessels. Exp ression of VEGF was tested with the S P method, and the microvessel density (M VD) was determined according to the percent of the neoplastic cells showing VEG F immunoreactivity and the degree of staining.Results: The MVD in GSCC was significantly higher than that in normal gingival tissue( P 0.05). MVD in VEGF positive samples of GSCC was sig nificantly higher than that in VEGF negative ones ( P

Objective To detect the expression of long non-coding RNA (lncRNA) CCAT1 in human papillary thyroid cancer, and to observe the effect of CCAT1 down-regulation on the invasion and migration of human papillary thyroid cancer.Methods The expression of CCAT1 was detected in human normal thyroid Nthy-ori 3-1 cells and human papillary thyroid cancer TPC-1 cells.CCAT1 siRNA plasmid was transfected into TPC-1 cells.The effect of CCAT1 down-regulation on cell invasion and migration was observed by Transwell chamber assay and scratch test, and the expressions of BRAF, MUC15 and RKIP proteins were detected by Western blot.Results The level of CCAT1 in human papillary thyroid cancer TPC-1 cells was significantly higher than that in human normal thyroid Nthy-ori 3-1 cells.CCAT1 down-regulation significantly inhibited the invasion and migration of TPC-1 cells.The Transwell invasion assay revealed that the number of migrated TPC-1 cells in the CCAT1 down-regulation group was significantly lower than that in the control group.The scratch test showed an increased distance between cells in the CCAT1 down-regulation group compared to the control group, suggesting a reduced cell motility.The expressions of BRAF and MUC15 proteins were decreased in the CCAT1 down-regulation group, while that of RKIP protein was increased.Conclusions The expression of CCAT1 in papillary thyroid cancer cells is significantly higher than that in normal human thyroid cells.Down-regulation of CCAT1 in papillary thyroid cancer cells may inhibit the cell invasion and migration by regulating the expression of BRAF, MUC15 and RKIP proteins.

Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.

Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant.Methods Seven children (from 7 families) with X-linked AHC who were admitted to the Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,from July 2012 to June 2017 were selected.All patients were screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on the X chromosome gene1 (DAX1/NR0B1) mutations.The clinical manifestation and laboratory examination were analyzed,their clinical characterizations were summarized.Results Seven patients were all male,the onset age of the patients were from after birth to 7 months old,and 4 patients (4 families) had a family history of X-linked recessive inheritance.The clinical manifestations were skin pigmentation [100.0％ (7/7 cases)],vomiting [71.4％ (5/7 cases)],no weight gain [57.1％ (4/7 cases)] and poor spirit [28.6％ (2/7 cases)].Laboratory tests showed that hyperkalemia and hyponatremia,increased coricotrophin,normal or decreased cortisol,17α-hydroxyprogesterone,progesterone,aldosterone and dehydroepiandrosterone.Testosterone levels increased in 5 patients.The abnormalities of adrenal glands imaging could be seen in 2 patients.Two patients were misdiagnosed as congenital adrenal cortical hyperplasia.Then the definitive diagnosis were made by genetic test.DAX1/ NR0B1 gene mutations were found in all patients.Five patients were novel mutations (c.114_126del,c.872G ＞ A,c.56delG,c.884T ＞ G,c.1217delG).Conclusions The clinical manifestations of X-linked AHC with infant onset include pigmentation,poor spirit and growth retardation,which should be differentiated from congenital adrenal cortical hyperplasia.Hormone levels such as elevated blood 17α-hydroxyprogesterone and family history are the main identification points,and AHC cannot be excluded when testosterone level increases.Five novel mutations are found in this study,which enrich the gene database.

Objective To determine the median effective dose(ED50)of dezocine inhibiting re-sponses to insertion of laryngeal mask airway(LMA)when combined with propofol in the elderly pa-tients.Methods American Society of Anesthesiologists physical statusⅠorⅡ patients, aged 66-75 yr, with body mass index of 20-25 kg∕m2, were included in this study.Anesthesia was induced with dezocine at the initial dose of 0.2 mg∕kg and propofol which was simultaneously administered by target-controlled infu-sion.The initial target plasma concentration of propofol was 1 μg∕ml, and the concentration was increased in increments of 0.5 μg∕ml every 3 min until the target concentration 3 μg∕ml was achieved.LMA was inserted when bispectral index value reached 50-60.The dose of dezocine was determined using the up-and-down method.The response to insertion of LMA was defined as positive when patients developed coughing, laryn-gospasm and∕or body movement during insertion or within 3 min after insertion.The dose of dezocine was in-creased∕decreased in the next patient if the insertion response was positive or negative.The ratio between the two successive doses was 0.8.The ED50and 95% confidence interval of dezocine inhibiting responses to in-sertion of LMA were calculated.Results When combined with propofol, the ED50of dezocine inhibiting re-sponses to insertion of LMA was 0.126 mg∕kg, and the 95% confidence interval was 0.110-0.143 mg∕kg.Conclusion The ED50of dezocine inhibiting responses to insertion of LMA is 0.126 mg∕kg when combined with propofol in the elderly patients.

OBJECTIVE: To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene. METHODS: Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed. RESULTS: Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously. CONCLUSION FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
Humans ; Child ; Glucocorticoids/therapeutic use* ; Receptor, Melanocortin, Type 2/genetics* ; Retrospective Studies ; Adrenal Insufficiency/genetics* ; Mutation