Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a serious adverse drug reaction, characterized with rash, fever, lymphadenectasis, eosinophilia and visceral involvement. This article describes the clinical case of a patient with renal insufficiency after receiving sensitizing drugs,which resulted in limb weakness and cognitive impairment of center nervous system characterized by vasculitis imaging and responded well to glucocorticoid treatment-DRESS syndrome.

OBJECTIVENasal operation and/or H-uvulopalatopharyngoplasty (UPPP) was performed for obstructive sleep apnea hypopnea syndrome (OSAHS) patients with both oral pharynx and nasal obstruction, results analyzed.

METHODSPatients were divided into group A (46 cases) and group B (42 case) randomly. Nasal procedures were: septoplasty, radiofrequency reduction of inferior turbinate, adenoidectomy and functional endoscopic operation. Cases in group A had nasal operation first, while cases in group B first had UPPP. All patients had sleep study with polysomnography (PSG) 2 and 12 months after each operation. Those who failed to reach the criteria of being effective after first surgery (defined as a 25% reduction in baseline apnea hypopnea index (AHI) received second phase operation (nasal operation for group B and UPPP for group A). The response rates were compared between the two groups after each phase of operation.

RESULTSIn group A, the phase one operation were effective in 44.0% (11/25) for the mild degree OSAHS patients (defined as AHI < 20/h), according to the sleep study performed 2 months after surgery, and no recurrence after one-year. All moderate ones (defined as 20/h < AHI < 40/h) responded poorly to nasal operation. The overall response rate was 23.9% (11/46). Non-responses (35 cases) in group A underwent UPPP and the response rate to it was 85.7% (30/35) in one year. In group B, UPPP operation was effective in 63.6% (14/22) mild cases and 30.0% (6/20) moderate cases in 2 months but 4 cases had recurrence in one year. Twenty-two cases underwent the second phase operation of nose and the response rate was 86.4% (19/22) in one year. There was no statistical significance on the overall response rate between group A and B (89.1% vs 83.3%, P > 0.05). While there was statistical significance of response rate between those patients who had only one operation and those who had both surgeries (P < 0.05).

CONCLUSIONSThe combination of nasal procedures and UPPP is effective a for OSAHS patient with nasal diseases especially in mild and moderate cases.

Adult ; Female ; Humans ; Male ; Middle Aged ; Nose ; surgery ; Otorhinolaryngologic Surgical Procedures ; methods ; Palate, Soft ; surgery ; Pharynx ; surgery ; Sleep Apnea, Obstructive ; surgery ; Treatment Outcome ; Uvula ; surgery

Cysts ; pathology ; Humans ; Iliac Vein ; pathology ; Male ; Middle Aged

OBJECTIVETo establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).

METHODSReal-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.

RESULTSCopy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.

CONCLUSIONAn analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Exons ; genetics ; Female ; Gene Dosage ; genetics ; Humans ; Male ; Parkinsonian Disorders ; genetics ; Polymerase Chain Reaction ; methods ; Protein Kinases ; genetics ; Young Adult

OBJECTIVETo study the effects of RhoA down-regulation by RNA interference on the invasion of tongue carcinoma Tca8113 and SCC-4.

METHODSDetermination of the human RhoA sequence as well as the design and constructionof a short specific small interfering RNAs (siRNA) were performed. The siRNA of RhoA gene was transfected into humantongue squamous cell carcinoma Tca8113 and SCC-4 cells line by Lipofectamine 2000. Quantitative real-time polymerasechain reaction was used to examine the mRNA expressionlevels of RhoA. Protein expressions of mRNA, galectin-3,and matrix metalloproteinase (MMP)-9 were evaluated byWestern blot. Transwell invasion assay was performed toassess the invasion ability of tongue carcinoma.

RESULTSRhoA expressions in Tca8113 and SCC-4 cells were reducedsignificantly after transfection of RhoA-siRNA. Protein levels f galectin-3 and MVP-9 were also down-regulated significantly. Invasion ability was inhibited as well.

CONCLUSIONRhoA-siRNA can effectively inhibit RhoA expression in Tca8113 and SCC-4 cells. The invasion ability of tongue carcinoma cells decreased with down-regulation of the protein expressions of galectin-3 and MMP-9, indicating that RhoA-siRNA can inhibit invasion of tongue carcinoma. Results show that RhoA may play an important role in the processes of invasion and metastasis of tongue carcinoma.

Carcinoma, Squamous Cell ; genetics ; metabolism ; pathology ; Cell Line, Tumor ; Down-Regulation ; Galectin 3 ; metabolism ; Gene Silencing ; Humans ; Matrix Metalloproteinase 9 ; metabolism ; RNA Interference ; RNA, Messenger ; metabolism ; RNA, Small Interfering ; genetics ; Tongue Neoplasms ; genetics ; metabolism ; pathology ; Transfection

OBJECTIVETo investigate the expression feature of peroxiredoxin III in cervical lesions and to further understand the mechanism for cervical cancer development/progression.

METHODSExpression of peroxiredoxin III was immunohistochemically detected in cervical cancer. In addition, cervical epithelia were transfected with recombinant adeno-associated virus vector containing human papillomavirus 16 E6/E7 and peroxiredoxin III expression was detected by quantitative real time PCR and Western blotting.

RESULTSPeroxiredoxin III was significantly up-regulated in cervical cancer tissues. Nevertheless, expression of peroxiredoxin III remained unchanged in cervical epithelial cells after transfection.

CONCLUSIONIt seems that Prx III is not related to cervical cancer initiation. Up-regulation of peroxiredoxin III in cervical cancer might be an active response to oxidative stress in malignant cells, which protects against oxidatiton-induced apoptosis.

Cervix Uteri ; metabolism ; Female ; Gene Expression Regulation, Neoplastic ; Human papillomavirus 16 ; genetics ; metabolism ; Humans ; Middle Aged ; Oncogene Proteins, Viral ; genetics ; metabolism ; Papillomavirus E7 Proteins ; genetics ; metabolism ; Peroxiredoxins ; genetics ; metabolism ; Repressor Proteins ; genetics ; metabolism ; Up-Regulation ; Uterine Cervical Neoplasms ; genetics ; metabolism ; virology

OBJECTIVE: To explore the genetic basis for a child with supravalvular aortic stenosis. METHODS: The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings. CONCLUSION The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
Aortic Stenosis, Supravalvular ; genetics ; Child ; Chromosome Banding ; Chromosomes, Human, Pair 7 ; genetics ; Comparative Genomic Hybridization ; Gene Deletion ; Genetic Testing ; Humans ; Williams Syndrome ; complications ; genetics

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

OBJECTIVETo describe the clinical and epidemiological features of dead cases with human Streptococcus suis infections, and to find the target population for preventing death and the related indicators.

METHODSEpidemiological investigation on human Streptococcus suis infections was implemented used unified questionnaires. Analysis on dead cases and survival cases (as contrast) was done.

RESULTSThe population with highest fatality rate was in 40-49 age group. 97.37% of dead cases had toxic shock syndrome. The mean interval from onset to admission was 0.76 days, and the mean course was 2.11 days. The progression among dead cases was faster than that among survival cases. Chief clinical manifestations of dead cases that are more frequent than survival cases are purpura (73.68%), diarrhea (50.0%), dyspnea (21.05%), conjunctival congestion (34.21%), etc. Renal impairment and liver involvement in dead cases were more significant than that in survival cases. No significant difference between mean incubation period, exposure rates of main risk factors in dead cases and in survival cases was found.

CONCLUSIONPreventing toxic shock syndrome might reduce the fatality rate. The target population for preventing death is aged > or = 40. Liver function and renal function testing might be indicators for monitoring the progression of human Streptococcus suis infections.

Adult ; Aged ; China ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Streptococcal Infections ; blood ; microbiology ; mortality ; pathology ; Streptococcus suis ; physiology ; Young Adult

OBJECTIVETo investigate the effects of autoantibodies against alpha(-) adrenergic receptor on cardiac remodeling in patients with hypertension.

METHODSFive hundred and fifty three patients with hypertension in our hospital were selected. The autoantibodies against alpha(1) adrenergic receptor in sera of donor were detected by ELISA, and the results of echocardiography were recorded. By multiple logistic regressions, the risk factors were analyzed on left ventricular enlargement of hypertension.

RESULTSThe percentage of autoantibodies against alpha(1) adrenergic receptor positive was 32.3% (179/553). There were significant difference between the positive group and negative group on the ratio of left atrial enlargement (53.6%, 44.3%, respectively; P < 0.05) and left ventricular enlargement (12.8%, 6.1%, respectively; P < 0.01). The result of regression analysis demonstrated that 4 risk factors were related to left ventricular enlargement, including male, course of disease, heart rate (HR) and autoantibodies against alpha(1) adrenergic receptor in the serum (all P < 0.05).

CONCLUSIONSThe autoantibodies against alpha(1) adrenergic receptor have a relationship with left ventricular enlargement of hypertension. Patients with the activity of autoantibodies against alpha(1) adrenergic might contribute to predict cardiac remodeling.

Adult ; Aged ; Autoantibodies ; blood ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Hypertension ; immunology ; physiopathology ; Logistic Models ; Male ; Middle Aged ; Receptors, Adrenergic, alpha-1 ; immunology ; Ventricular Remodeling ; immunology