113 cases of postoperative patients with tongue carcinoma were analyzed to investigate the correlative factors of cervical lymphnode metastasis and the prognosis.Results showed that the prognosis of tongue carcinoma was related to cervical lymph node metastasis remarkably.

Objective To summarize the clinical characteristics,diagnosis and treatment of chronic mucocutaneous candidiasis(CMC).Methods The case diagnosed as CMC in the Department of Nephrology and Immunology of Shenzhen Children's Hospital in February 24,2014 was analyzed in terms of symptoms,signs,laboratory findings,gene tests and treatment process,and related literature was reviewed.Results The patient was a 14-year-old boy.The patient started to develop recurrent oral candida infection shortly after birth,then candida infection of skins and nails,which could be alleviated by antifungal agents,but easily relapsed.Since 4 years ago,autoimmune reactions such as autoimmune anemia,thrombocytopenia,leucopenia,proteinuria,and hypothyroidism had successively appeared,and cytopenia began to palliate after administering Glucocorticoid and Cyclosporin,but easily relapsed when the dosage was reduced.The genetic test showed the case was of signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.During the hospitalization,hemophagocytic syndrome (HPS) and stagnation of hematopoietic function successively occurred.The cytopenia did not improve and the patient suffered severe infection in spite of washing red blood cells 13 times and blood palate 3 times via infusion,together with high dosage of Dexamethasone and Cyclosporine.The peripheral blood cells and bone marrow gradually returned to normal after being treated by human granulocyte colony-stimulating factor combined with Dexamethasone and Cyclosporin.Retrieving the database in PubMed database,824 articles were found which were about CMC,and 39 of them were about the STAT1 gain-of-function mutation,including 120 cases.But there was only 1 domestic case in 2012,who was a three-year-old child,manifesting recurrent fungal infection of the skin.Conclusions STAT1 gain-of-function acquired mutation is one of the reasons that can lead to CMC.Autoimmune reactions prominently represented by cytopenia occur in a few patients with CMC.It should be alert on those who are with CMC and simultaneously with autoimmtne reaction of blood system.And gene tests facilitate the early diagnosis.

Objective To study the efficacy of transcutaneous prostaglandin E 1( PGE 1) cream in relaxing the vascular spasm in rabbits, to find an ideal vascular dilation drug. Methods Sixty rabbits were randomly divided into six groups:experiment group 1(using 0.1% transcutaneous PGE 1 cream),experiment group 2(using 0.2% transcutaneous PGE 1 cream),experiment group 3(using 0.4% transcutaneous PGE 1 cream), experiment group 4( using 0.8% transcutaneous PGE 1 cream),PGE 1 control group (without using transcutaneous PGE 1 cream, but using PGE 1 cream only),control group(withous using PGE 1). 0.1% adrenlin was injected to the root of the rabbite ear to induce a model of vascular spasm. After a typical vascular spasm appeared,transcutaneou PGE 1 cream or PGE 1 cream was used on the skin of the ear. The vascular diameter and blood folw rate of the ear were determined before adrenalin injection, 10min after vascular spasm and 10,15,30,60,90 and 120 min after the drugs were used. Results The vascular diameters and blood flow rate were recovered to the levels of before adrenalin injection in experimental group 3, 4 after topical used of transcutaneous PGE 1 cream, and those parameters were significamly increased compared with other 4 groups(P0.05). Conclusions Tramscutameou PGE 1 cream can effectively relax the vascular spasm caused be adrenalin injection.The effect of vascular dilation is related to the dosage of the drug. Transcutaneous PGE 1 cream as a topical vascular dilation drug has advantages snch as wide indications,taking effect quick and enduring, and less side effect. So it might be a new simple, safe and effective drug for the treatment of vascular spasm.

Objective:To evaluate the efficacy of modified self-made Qingxin Buqi Pinggan Decoction combined with atomoxetine hydrochloride in the treatment of attention deficit hyperactivity disorder (ADHD).Methods:Randomized controlled trial. A total of 200 children with ADHD admitted to our hospital from January 2020 to January 2022 were selected as observation subjects by prospective cohort study, and were divided into two groups according to the random number table method. The control group was given oral administration of atomoxetine hydrochloride capsules, and the observation group was given self-made Qingxin Buqi Pinggan Decoction on the basis of the control group. Both groups were treated continuously for 3 months. Before and after treatment, the Traditional Chinese Medicine symptoms were scored, and the core symptoms of the children were evaluated by Swanson Nolan and Pelham-versionⅣ (SNAP-Ⅳ), and the hyperactivity tendency was assessed by Parent Symptom Questionnaire (PSQ). The serum cortisol (COR) and adrenocorticotropic hormone (ACTH) levels were measured by chemiluminescence immunoassay. Adverse reactions during treatment were observed and clinical efficacy was evaluated.Results:The total effective rate was 97.0% (97/100) in observation group and 88.0% (88/100) in control group ( χ2=5.84, P=0.016). After treatment, the scores of restlessness, hyperactivity, unsteadiness, emaciation, lusterless complexion and restless sleep in the observation group were significantly lower than those in the control group ( t=17.90, 11.79, 10.01, 23.27, 11.79, 12.03, P<0.01). The scores of impulsivity factor, learning factor, hyperactivity factor, behavior factor, psychosomatic factor and anxiety factor were significantly lower than those in the control group ( t=4.65, 42.83, 10.01, 41.89, 39.42, 18.30, P<0.01). The scores of attention deficit, hyperactivity-impulsivity and behavior performance were significantly lower than those in the control group ( t=11.68, 9.69, 28.42, P<0.01). After treatment, the levels of serum COR [(337.26±17.22) nmol/L vs. (275.51±15.49) nmol/L, t=26.66] and ACTH [(24.47±1.12) ng/L vs. (19.23±1.43) ng/L, t=28.85] were significantly higher in observation group than those in the control group ( P<0.01). During treatment, the incidence rate of adverse reactions was 6.0% in observation group and 5.0% in control group ( χ2=0.10, P=0.756). Conclusion:Modified self-made Qingxin Buqi Pinggan Decoction combined with atomoxetine hydrochloride can improve the clinical symptoms of children with ADHD, reduce the degree of hyperactivity disorder, increase the levels of serum COR and ACTH, and enhance the clinical efficacy.

OBJECTIVE: To explore the genetic basis of three children with unexplained mental retardation/developmental delay. METHODS: Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3. RESULTS: The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant. CONCLUSION For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
Child ; DNA Copy Number Variations ; Facies ; Glycosyltransferases/genetics* ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics*

OBJECTIVE: To explore the genetic basis for a child with febrile seizures. METHODS: Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features. RESULTS: The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.
Child ; Chromosome Deletion ; Chromosome Disorders ; Epilepsy ; Fragile X Mental Retardation Protein ; Humans ; Intellectual Disability/genetics* ; Karyotyping ; MEF2 Transcription Factors/genetics*

For invasive bladder cancer, radical cystectomy and rectal substitution for sigmoid skin fistulas were commonly used in some medical centers. There is no report on the feasibility of sigmoid colon retraction except nephroureterectomy for patients with recurrent ureteral tumors after operation. We presented a case of recurrent ureteral tumors after rectal substitution bladder surgery for bladder cancer. Finally, left ureteral resection + sigmoid colon return + right ureteral skin stoma was successfully performed.The patient was followed up for 1 year without recurrence.