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This study aimed to evaluate the surgical outcomes and relevant prognostic factors in patients with low-grade epilepsy-associated neuroepithelial tumors (LEAT) and, especially, to develop a scoring system to predict postoperative seizure outcomes.The clinical data of patients who underwent epilepsy surgery for LEAT were retrospectively studied. The surgical outcomes of seizure and neurological statuses in patients were evaluated using Engel classification and modified Rankin Scale (mRS) scoring, respectively. A scoring system of seizure outcomes was constructed based on the weight of the β-coefficient estimate of each predictor in the final multivariate predicting model of seizure outcomes.Of the 287 patients (106 female) enrolled, the median age was 19 years at surgery and 10 years at seizure onset, with a median duration of epilepsy of 60 months. Among 258 patients who were followed up for at least 12 months, 215 (83.3%) patients had a favorable seizure outcome (Engel class I) after surgery, and 43 (16.7%) patients had an unfavorable seizure outcome; longer duration of epilepsy, discordant magnetoencephalography (MEG) findings, and acute postoperative seizures were significantly included in the scoring system to predict unfavorable seizure outcomes, and in the scoring system, accumulated scoring of 0-19 scores was recorded, which were finally grouped into three risk levels: low risk (risk 30%), medium risk (30% ≤ risk 70%), and high risk (risk ≥ 70%). In addition, favorable neurological outcomes (mRS score 0-1) were recorded in 187 (72.5%) patients, while unfavorable neurological outcomes were recorded in 71 (27.5%) patients, which were significantly related to poor seizure control, older age at surgery, and longer duration of epilepsy and hospitalization time.The long-term surgical outcomes of LEAT after surgery were satisfactory. A scoring system for predicting unfavorable seizure outcomes with different risk levels was developed, which could partly guide clinical treatments of LEAT.

Purpose The aim of the study was to evaluate the cognitive functions and seizure outcomes of patients with low-grade epilepsy-associated neuroepithelial tumors (LEATs). Methods We retrospectively reviewed the clinical data of patients who underwent preoperative neuropsychological evaluations and subsequent epilepsy surgery for LEATs. The neuropsychological results of full-scaled intelligence quotient (FSIQ) and full-scaled memory quotient (FSMQ) were analyzed, as well as the postoperative seizure outcomes. Results Of the 138 patients included in the study, 59 patients (40.4%) were female and 47 (36.6%) patients were children. Preoperatively, 138 patients received FSIQ assessments and 30 patients (21.7%) had an intellectual deficit (FSIQ

Since December 2019, COVID-19 has occurred unexpectedly and emerged as a health problem worldwide. Despite the rapidly increasing number of cases in subsequent weeks, the clinical characteristics of pediatric cases are rarely described. A cross-sectional multicenter study was carried out in 10 hospitals across Hubei province. A total of 25 confirmed pediatric cases of COVID-19 were collected. The demographic data, epidemiological history, underlying diseases, clinical manifestations, laboratory and radiological data, treatments, and outcomes were analyzed. Of 25 hospitalized patients with COVID-19, the boy to girl ratio was 1.27:1. The median age was 3 years. COVID-19 cases in children aged

Objective The aim of this study was to evaluate the clinical features, surgical complications, and functional outcomes of the surgical treatment of patients with cavernous malformations (CMs) involving the medulla oblongata. Methods The charts of 69 patients undergoing surgical treatment of CMs in the medulla oblongata, pontomedullary, and cervicomedullary junctions between 2011 and 2017 were retrospectively reviewed. Patient demographics, lesion characteristics, operative documents, and patient outcomes were examined. Results Of the 69 patients, the male-to-female ratio was 1.3. The mean patient age was 32.6 years, and the mean mRS score was 2.7 on admission. Postoperatively, 21 patients (30.4%) had deficits of cough reflexes, and 6 patients (8.7%) experienced respiratory rhythm disorder and dyspnea. The mean follow-up duration was 35.3 months. At the last follow-up evaluation, the mean mRS score was 1.8, and 53 patients (80.3%) had favorable outcomes, with mRS scores ≤2. The conditions of the patients improved in 45 cases (68.2%), remained unchanged in 11 cases (16.7%), and worsened in 10 cases (15.1%) relative to their preoperative baseline. The independent adverse factors for long-term functional outcome were increased age, multiple hemorrhages, presence of developmental venous anomalies, and lack of perilesional edema. Conclusions Respiratory dysfunction and deficits of cough reflexes can commonly occur during the early postoperative period for surgical resection of CMs involving the medulla oblongata. Favorable functional outcomes can be achieved by surgery, especially for younger patients who experience fewer hemorrhages and have lesions with perilesional edema and the absence of developmental venous anomalies.

Objective To evaluate surgical management of cavernous malformations (CMs) involving the medulla oblongata and to predict risk factors of postoperative respiratory dysfunction (RDF). Methods Patient data from individuals who underwent surgical treatment for CMs involving the medulla oblongata were retrospectively reviewed. Patients with postoperative RDF and/or deficits of the cough reflex (CR, ≥7 days) were deemed as having bad respiratory statuses. A binary logistic regression analysis tested the association of preoperative predictors with bad postoperative respiratory status. Results The study consisted of 69 patients. Preoperatively, 9 patients (13.0%) had dyspnea, and 4 (5.8%) had hypoxemia. Postoperatively, 11 patients (15.9%) had bad respiratory statuses, including RDF as a respiratory rhythm disorder and/or dyspnea in 6 patients, and ≥7 days of CR deficits in 5 patients. With a mean follow-up duration of 35.3 months, the neurologic status improved in 45 patients (68.2%), remained unchanged in 11 (16.7%), and worsened in 10 (15.1%) relative to the preoperative baseline. A multivariate logistic regression analysis identified that the independent adverse factors of bad postoperative respiratory status were multiple preoperative hemorrhages, large lesion size, and surgical intervention during the chronic period (>8 weeks). Conclusions Postoperative RDF and CR deficits could commonly occur in patients with CMs involving the medulla oblongata. However, patients with fewer preoperative hemorrhages, small lesion size, and operation within 8 weeks of the last bleeding are prone to be associated with a reduced possibility of bad postoperative respiratory status.

Introduction Little is known of acupuncture patients’ experiences and opinions of clinical trials, and what may influence their compliance when participating in an acupuncture trial. Objectives To explore the potential factors that influence patients’ choice and determinants to participate in acupuncture clinical trials. Methods Ten qualitative, in-depth interviews were conducted with patients from acupuncture clinics in Beijing, who had previously participated in acupuncture clinical trials. Results Four main themes emerged from the interview data: effectiveness of the treatment, convenience of participating in a trial, doctor-participant communication, and participant acceptance of the treatment (or the trial). Effectiveness of acupuncture in treating the health condition was the most important factor for participant adherence. Pragmatics of treatment schedules, travel and attendance burden, together with confidence in the doctor’s ability additionally influenced trial and treatment compliance. Conclusions In-depth interviews suggest that treatment effectiveness, the pragmatics of attending treatment sessions, and the expertise and attitudes of acupuncturists are determining factors of participation and compliance in acupuncture clinical trials. Participants’ confidence in, and expectation of, acupuncture may facilitate compliance, while their fear of acupuncture and negative perceptions of the trial’s purpose may reduce treatment compliance. Compliance may be facilitated by enhanced doctor-patient communication, personalized treatment programs, and feedback on treatment outcomes.

Objective Primary intracranial angioleiomyoma is a rare and distinct neoplasm. Only 29 cases have been reported previously, and we aimed to investigate the clinical and radiopathologic features of these lesions. Methods Medical records and radiographs of 8 patients (7 male and 1 female; mean age: 48.7 years) at our institution were reviewed retrospectively. Patient follow-up and a literature review were performed. Results The most common preoperative symptom was a visual defect (n = 2), followed by diplopia (n = 1) and abducens paralysis (n = 1). Three patients were asymptomatic. The parasellar area (particularly the cavernous sinus) was the predilection site (n = 4; 50.0%). Radiographically, all lesions were solid without cystic degeneration. All lesions appeared with T1 hypointensity and T2 hyperintensity, and they were gradually heterogeneously enhanced after the administration of gadolinium. Complete resection was achieved in 7 patients (87.5%) without recurrence after 26.8 months of follow-up. Mitosis was rarely observed, and the Ki-67 labeling index was less than 1%; pathologically, the cavernous type was the most common. Conclusions Primary intracranial angioleiomyomas were prevalent in middle-aged men, and they usually involved the cavernous sinus and were frequently pathologically identified as the cavernous type. Preoperative symptoms varied depending on lesion location. The preoperative diagnosis of primary intracranial angioleiomyomas is difficult without pathology. Digital subtraction angiography and preoperative embolization are useful for differential diagnosis and surgery. Given the indolent biology of these tumors, a favorable outcome can be achieved using total resection without recurrence. A larger sample size with long-term follow-up is needed to verify our findings.

Background Human African trypanosomiasis (HAT) is one of the most complex parasitic diseases known to humankind. It usually occurs in endemic areas in Africa, but is occasionally detected in returning travelers and migrants in non-endemic countries. Case presentation In August 2017, a case of HAT was diagnosed in China in a traveler returning from the Masai Mara area in Kenya and the Serengeti area in Tanzania. The traveler visited Africa from 23 July to 5 August, 2017. Upon return to China, she developed a fever (on 8 August), and Trypanosoma brucei rhodesiense infection was confirmed by laboratory tests (on 14 August) including observation of parasites in blood films and by polymerase chain reaction. She was treated with pentamidine followed by suramin, and recovered 1 month later. Conclusions This is the first imported rhodesiense HAT case reported in China. This case alerts clinical and public health workers to be aware of HAT in travelers, and expatriates and migrants who have visited at-risk areas in Africa. Electronic supplementary material The online version of this article (10.1186/s40249-018-0432-5) contains supplementary material, which is available to authorized users.

To determine the influence of puncture site on aspiration in dealing with pneumothorax following CT-guided lung biopsy. Two hundred thirty-six pneumothorax patients after CT guided lung biopsies were retrospective analyzed from January 2013 to December 2018. Patients with minor asymptomatic pneumothorax were treated conservatively with monitoring of vital signs and follow-up CT to confirm stability. Ninety of the 236 pneumothorax patients, who underwent manual aspiration, were included in this analysis. In first manual aspiration, the needle from the lesion was retracted back into the pleural space after biopsy, and then aspiration treatment was performed. If the treatment is of unsatisfied result, a second attempt aspiration treatment, which puncture site away from initial biopsy one, was conducted. The efficacy of simple manual aspiration and the new method, changing puncture site for re-aspiration was observed. Immediate success was obtained in 62 out of the 90 patients in the first attempt. The effective rate and failure rate were 68.9% (62/90) and 31.1% (28/90), respectively. Twenty-eight patients in whom first attempt simple aspiration were unsuccessful underwent a second attempt aspiration, which puncture site away from initial biopsy one, was successful in 13 patients with 15 patients undergoing chest tube placement. The effective rate and failure rate were 46.4% (13/28) and 53.6% (15/28), respectively. Applying the modified procedure, total effective rate of aspiration elevated significantly from 68.9% (62/90) to 83.3% (75/90) (P

Objective The aim of this study was to investigate patient clinical features, surgical complications and outcomes, and the prognostic risk factors of surgical treatment of cavernous malformations (CMs) involving the medulla oblongata. Methods The charts of 53 patients who underwent surgical treatment for CMs involving the medulla oblongata between 2011 and 2017 were reviewed retrospectively. Patient demographics, lesion characteristics, operative documents, and patient outcomes were examined. Results The study population consisted of 53 patients, with a male/female ratio of 1.4 and a mean age of 32.6 years. Eighteen patients (34.0%) had respiratory dysfunction, and 2 patients (3.8%) had cardiac instabilities, preoperatively. The mean modified Rankin Scale score was 2.7 on admission. Gross total resection was achieved in 52 patients (98.1%). Postoperatively, 23 patients (43.4%) had respiratory dysfunction, and 16 patients (30.2%) had dysphagia or cough. The mean follow-up duration was 35.7 months. At the last follow-up evaluation, the mean modified Rankin Scale score was 1.7, and 42 patients (84%) had favorable outcomes, with mRS scores ≤2. The conditions of the patients improved in 34 cases (68%), remained unchanged in 10 cases (20%), and worsened in 6 cases (12%) relative to the preoperative baseline. The independent adverse factors for long-term outcome were age ≥50 years and increased time of reservation of tracheal intubation after surgery. Conclusions Surgical treatment of CMs involving the medulla oblongata was challenging, notably, perioperative respiratory dysfunction, with which patients tend to have unfavorable long-term outcomes, especially for elder patients.

The Von Hippel-Lindau gene (VHL) is a tumor suppressor gene, which is widely expressed in kidney, lung, breast, ovary, and cervix. VHL gene mutations can induce VHL disease and tumorigenesis. However, whether this gene is expressed in the human fallopian tube has not been evaluated. The objectives of this study were to investigate whether the VHL gene is expressed in human fallopian tube, and to investigate its expression changes during the menstrual cycle. Twenty‑seven patients undergoing abdominal hysterectomy with adnexectomy for benign uterine disease were enrolled in the study. Human fallopian tubes were divided into proliferative stage (n=14) and secretory stage (n=13) according to the stage of the menstrual cycle they were isolated from. The expression of the VHL gene and protein was studied by reverse transcription-polymerase chain reaction (RT-PCR), western blotting and immunohistochemistry, respectively. The results revealed positive expression of the VHL protein in the cytoplasm of ciliated cells of the human fallopian tube. The mRNA and protein expression of VHL in the fallopian tubes was higher in the proliferative compared to the secretory phase of the menstrual cycle, but this difference was not significant (P>0.05). Overall, this study presents data on the VHL mRNA and protein expression in the human fallopian tube, which may be relevant to the process of differentiation of ciliated and secretory cells.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is the only gene known to be responsible for BPES. The majority of BPES patients show intragenic mutations of FOXL2. Recently, a 7.4 kb sequence disruption, which was 283 kb upstream of FOXL2, was identified to independently contribute to the BPES phenotype. Several breakpoints nearing FOXL2 (0 Mb to 1.2 Mb, several of which were distant from the 7.4 kb sequence disruption) have been mapped or deduced through a traditional method in BPES patients with chromosome reciprocal translocation. In this study, two BPES families with chromosome reciprocal translocation were investigated. Intragenic mutations of FOXL2 or pathogenic copy number variations were excluded for the two BPES families. All of the four breakpoints were identified at a base-precise manner using Giemsa banding and whole genome low-coverage sequencing (WGLCS). In family 01, the breakpoints were found at chr1:95,609,998 and chr3:138,879, 114 (213,132 bp upstream of FOXL2). In family 02, the breakpoints were located at chr3:138,665,431 (intragenic disruptions of FOXL2) and chr20:56,924,609. Results indicate that the intragenic and extragenic interruptions of FOXL2 can be accurately and rapidly detected using WGLCS. In addition, both the 213 kb upstream and intragenic interruptions of FOXL2 can cause BPES phenotype.

The von Hippel‑Lindau (VHL) gene is a tumor suppressor gene, which is widely expressed in the kidney, lung, breast, eye, ovary and cervix. Mutations of the VHL gene are able to induce VHL disease and tumorigenesis. However, it has yet to be evaluated whether the VHL gene is expressed in the human endometrium. The objective of the present study was to investigate whether the VHL gene is expressed in the human endometrium and to identify changes in expression levels during the menstrual cycle. A total of 35 human endometrial tissue samples in the proliferative (n=17) and secretory phase (n=18) were subjected to the present study. VHL gene expression levels were assessed using Western blot analysis and reverse transcription polymerase chain reaction (RT-PCR). It was observed that the expression of VHL mRNA in the human endometrium decreased from the proliferative to secretory phase (P

Objective: To evaluate whether couples with moderate male infertility should be treated with conventional in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Patients and Methods: A total of 249 couples with moderate male infertility undergoing their first IVF/ICSI cycle were enrolled in the study. The couples were divided into two groups according to the results of semen analysis: moderate oligozoospermia (O group) and moderate oligoasthenozoospermia (OA group). Sibling oocytes were randomized into groups to be inseminated either by conventional IVF or ICSI. Fertilization rate, embryo quality, implantation rate, and clinical pregnancy rate were examined. Results: There was no difference in the fertilization, implantation, and pregnancy rates between conventional IVF and ICSI in either the O group or OA group (p > 0.05). Additionally, in the OA group, the good quality embryo rate was similar after IVF or ICSI (p > 0.05). However, in the O group, the good quality embryo rate was significantly higher after ICSI than after IVF (p < 0.05). Conclusions: Couples with moderate oligozoospermia or moderate oligoasthenozoospermia did not influence the major indices of IVF. Because of the uncertainties concerning the safety of ICSI, couples with moderate oligozoospermia or moderate oligoasthenozoospermia need not be subjected to this procedure.

Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes.

Sperm and eggs carry distinctive epigenetic modifications that are adjusted by reprogramming after fertilization. The paternal genome in a zygote undergoes active DNA demethylation before the first mitosis. The biological significance and mechanisms of this paternal epigenome remodelling have remained unclear. Here we report that, within mouse zygotes, oxidation of 5-methylcytosine (5mC) occurs on the paternal genome, changing 5mC into 5-hydroxymethylcytosine (5hmC). Furthermore, we demonstrate that the dioxygenase Tet3 (ref. 5) is enriched specifically in the male pronucleus. In Tet3-deficient zygotes from conditional knockout mice, paternal-genome conversion of 5mC into 5hmC fails to occur and the level of 5mC remains constant. Deficiency of Tet3 also impedes the demethylation process of the paternal Oct4 and Nanog genes and delays the subsequent activation of a paternally derived Oct4 transgene in early embryos. Female mice depleted of Tet3 in the germ line show severely reduced fecundity and their heterozygous mutant offspring lacking maternal Tet3 suffer an increased incidence of developmental failure. Oocytes lacking Tet3 also seem to have a reduced ability to reprogram the injected nuclei from somatic cells. Therefore, Tet3-mediated DNA hydroxylation is involved in epigenetic reprogramming of the zygotic paternal DNA following natural fertilization and may also contribute to somatic cell nuclear reprogramming during animal cloning.

Background Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol(LDL-C).In the past years,molecular data related to FH were limited in China. Now,to gain more information about FH,we analyzed one proband with a severe FH phenotype as well as his relatives. Methods After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR) gene were amplified using PCR,we sequenced the LDLR gene of a Chinese FH family.RT-PCR was used to detect changes in the mRNA. Results Two novel mutations were identified in the LDLR gene of this family.One,W165X,was a GA substitution at the third nucleotide of codon 165.The other,IVS5-1GA,was also a GA substitution at the acceptor splice site of intron 5.The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1GA.The cDNA sequencing showed that the IVS5-1GA mutation caused the insertion of 10 nucleotides,namely GCTCTCACAA, between exon 5 and exon 6. Conclusions The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family.These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene. Chin Med J 2007;120(19):1694-1699

We report our experience of using the medial sural artery perforator flap in the reconstruction of soft tissue defects in the hand in seven cases with 1 to 2 year follow-up. The flap is harvested from the posteromedial aspect of the leg, just below the knee and superficial to the medial head of the gastrocnemius muscle. It is based on the perforator arteries and veins supplied by the medial sural artery. The flaps ranged in size from 14 × 10 cm to 8 × 6 cm. The donor area was closed directly or by a skin graft. All but one flap survived. The cosmetic results were satisfactory and without apparent bulkiness. Similarity of colour and thickness of the donor and recipient sites are advantages. We feel that this new flap is a satisfactory option for use in the hand, particularly for extended soft tissue defects on the dorsal hand.

Background The multidrug resistance (MDR) associated with the expression of the mdr1 gene and its product P-glycoprotein is a major factor in the prognosis of hepatocellular carcinoma cell (HCC) patients treated with chemotherapy. Our study was to establish a stable HCC MDR cell line where a de novo acquisition of multidrug resistance specifically related to overexpression of a transgenic mdr1. Methods The 4.5-kb mdr1 cDNA obtained from the plasmid pHaMDR1-1 was cloned into the PCI-neo mammalian expression vector, later was transferred by liposome to human hepatocarcinoma cell line HepG2. Then the transfected HepG2 cells resisting G418 were clustered and cultured and the specific fragment of mdr1 cDNA, mRNA and the P-glycoprotein (Pgp) in these HepG2 cells were detected by PCR, RT-PCR and flow cytometry, respectively. The accumulation of the daunorubicin was determinated by flow cytometry simultaneously. The nude mice model of grafting tumour was established by injecting subcutaneously HepG2/mdr1 cells in the right axilla. When the tumour diameter reached 5 mm, adriamycin was injected into peritoneal cavity. The size and growth inhibition of tumour were evaluated. Results The mdr1 expression vector was constructed successfully and the MDR HCC line HepG2/mdr1 developed. The PCR analysis showed that the specific fragment of mdr1 cDNA in HepG2/mdr1 cells, but not in the control group HepG2 cells. Furthermore, the content of the specific fragment of mdr1 mRNA and Pgp expression in HepG2/mdr1 cells were (59.7 +/- 7.9)% and (12.28 +/- 2.09)%, respectively, compared with (16.9 +/- 3.2)% and (3.07 +/- 1.06)% in HepG2 cells. In the nude mice HCC model, the tumour genes of both groups were identified. After ADM therapy, the mean size of HepG2 cell tumours was significantly smaller than HepG2/mdr1 cell tumours. Conclusion The approach using the transfer of mdr1 cDNA may be applicable to the development of MDR hepatocarcinoma cell line, whose MDR mechanism is known. This would provide the experimental basis of MDR research.

Topical application of caffeine sodium benzoate (caffeine-SB) immediately after UVB irradiation of SKH-1 mice enhanced UVB-induced apoptosis by a 2- to 3-fold greater extent than occurred after the topical application of an equimolar amount of caffeine. Although topical application of caffeine-SB or caffeine enhanced UVB-induced apoptosis, both substances were inactive on non-UVB-treated normal skin. Topical application of caffeine-SB or caffeine (each has UVB absorption properties) 0.5 h before irradiation with a high dose of UVB decreased UVB-induced thymine dimer formation and sunburn lesions (sunscreen effect). Caffeine-SB was more active than an equimolar amount of caffeine in exerting a sunscreen effect. In additional studies, caffeine-SB strongly inhibited the formation of tumors in UVB-pretreated 'high-risk mice' and in tumor-bearing mice, and the growth of UVB-induced tumors was also inhibited. Caffeine-SB and caffeine are the first examples of compounds that have both a sunscreen effect and enhance UVB-induced apoptosis. Our studies suggest that caffeine-SB and caffeine may be good agents for inhibiting the formation of sunlight-induced skin cancer.

Earlier studies showed that oral administration of green tea or caffeine to SKH-1 mice inhibited ultraviolet B light (UVB)-induced skin carcinogenesis, decreased dermal fat thickness and increased locomotor activity. In the present study, the effects of voluntary running wheel exercise on thickness of dermal fat as well as on UVB-induced tumorigenesis in SKH-1 mice were studied in UVB-initiated high-risk and UVB-induced complete carcinogenesis models. In the high-risk model, animals were exposed to UVB (30 mJ/cm(2)) 3 times/week for 16 weeks. For 14 weeks subsequent to UVB exposure, half of the animals had access to running wheels in their cages whereas the other half did not. In the complete carcinogenesis model, animals were exposed to UVB (30 mJ/cm(2)) 2 times/week for 33 weeks. From the beginning, half of the animals had access to running wheels whereas the other half did not. At the conclusion of each study, body weights were not different between groups, although animals with running wheels consumed significantly more food and water than animals without running wheels. In addition, animals with running wheels had decreases in parametrial fat pad weight and thickness of the dermal fat layer. In both UVB-initiated high-risk and complete carcinogenesis models, voluntary running wheel exercise delayed the appearance of tumors, decreased the number of tumors per mouse and decreased tumor volume per mouse. Histopathology studies revealed that running wheel exercise decreased the number of non-malignant tumors (primarily keratoacanthomas) by 34% and total tumors per mouse by 32% in both models, and running wheel exercise decreased the formation of squamous cell carcinomas in the UVB-induced complete carcinogenesis model by 27%. In addition, the size of keratoacanthomas and squamous cell carcinomas were decreased substantially in both models. The effects described here indicate that voluntary running wheel exercise inhibits UVB-induced skin tumorigenesis and may also inhibit tumor growth.

Purpose To determine whether distal radioulnar joint (DRUJ) contact characteristics were altered in patients with malunited distal radius fractures. Methods We obtained computed tomography scans at 5 positions of both wrists of 6 patients who had unilateral malunited distal radius fractures with dorsal angulation from 10° to 20° and ulnar variance less than 3 mm. We reconstructed 3-dimensional images and mapped contact regions of DRUJ by calculating the shortest distance between the 2 opposing bones. The contact areas of the DRUJ were measured and the contact region centers were calculated and analyzed. The values of the malunited side were compared with those of the contralateral uninjured side. Results In the uninjured wrist, the contact areas of the DRUJ increased slightly from wrist flexion to extension and ulnar deviation. In the malunited wrist, we found the contact areas of DRUJ to be progressively reduced from 20° flexion to neutral, 40° extension, and 20° extension, to ulnar deviation. The centroid of this area on the sigmoid notch moved to distal from flexion to extension. Compared with the contralateral uninjured wrist, the contact area significantly decreased during wrist extension and ulnar deviation, and significantly increased during wrist flexion. The centroids of this area on sigmoid notch all moved volarly in all selected wrist positions. Conclusions The contact areas of the DRUJ and the centroid of contact area on sigmoid notch are altered in patients with malunited distal radius fractures. The contact area of the DRUJ increases during wrist flexion and decreases during wrist extension and ulnar deviation. The centroids of the contact area on sigmoid notch move volarly during wrist flexion-extension and ulnar deviation. Clinical relevance The in vivo findings suggest that alterations in joint mechanics may have an important role in the dysfunction associated with these injuries.

Shaved male or female p53(−/−) C57BL/6J mice and their wild-type littermates were irradiated once with UVB (60 mJ/cm2). The UVB-induced increase in apoptotic sunburn cells in p53(−/−) mice at 6–10 h after exposure to UVB was only 10–30% of that observed after treatment of p53(+/+) mice with UVB. Topical applications of caffeine immediately after UVB irradiation in female p53(+/+) or p53(−/−) mice enhanced the UVB-induced increase in apoptotic sunburn cells 6 h later by 127% and 563%, respectively. In another study, shaved female Bax(−/−) C57BL/6J mice and their wild-type littermates were irradiated once with UVB (60 mJ/cm2). The UVB-induced increase in apoptotic sunburn cells in Bax(−/−) mice at 6 h after exposure to UVB was only 14% of that observed after treatment of Bax(+/+) mice with UVB. Topical application of caffeine immediately after irradiation of Bax(+/+) or Bax(−/−) mice with UVB enhanced the UVB-induced increases in apoptotic sunburn cells at 6 h by 214% and 467%, respectively, and topical application of caffeine immediately after irradiation of Bax(+/+) or Bax(−/−) mice with UVB enhanced the UVB-induced increase in caspase 3 (active form) positive cells at 6 h by 253% and 750%, respectively. The results indicate that UVB-induced increases in apoptosis in the epidermis of wild-type mice are predominantly (but not entirely) by p53- and Bax-dependent pathways and that topical application of caffeine can enhance UVB-induced increases in apoptosis by p53- and Bax-independent pathways.

SKH-1 hairless mice were irradiated with ultraviolet B (UVB) twice weekly for 20 weeks. These tumor-free mice, which had a high risk of developing skin tumors during the next several months, were then treated topically with caffeine (6.2 μmol) or (−)-epigallocatechin gallate (EGCG; 6.5 μmol) once a day 5 days a week for 18 weeks in the absence of further treatment with UVB. Topical applications of caffeine to these mice decreased the number of nonmalignant and malignant skin tumors per mouse by 44% and 72%, respectively. Topical applications of EGCG decreased the number of nonmalignant and malignant tumors per mouse by 55% and 66%, respectively. Immunohistochemical analysis showed that topical applications of caffeine or EGCG increased apoptosis as measured by the number of caspase 3-positive cells in nonmalignant skin tumors by 87% or 72%, respectively, and in squamous cell carcinomas by 92% or 56%, respectively, but there was no effect on apoptosis in nontumor areas of the epidermis. Topical applications of caffeine or EGCG had a small inhibitory effect on proliferation in nonmalignant tumors as measured by BrdUrd labeling (16–22%), and there was also a similar, but nonsignificant, inhibitory effect on proliferation in malignant tumors. The results suggest a need for further studies to determine whether topical applications of caffeine or EGCG can inhibit sunlight-induced skin cancer in humans.

Dengue fever is an acute mosquito-borne viral disease caused by dengue virus (DENV). Temperature may affect the efficiency of the mosquito vectors in spreading DENV. Aedes albopictus mosquitoes were infected orally with a DENV2 suspension and incubated at different temperatures. Subsequently, DENV2 antigen was collected from salivary gland and thorax-abdomen samples on different days postinfection and tested using an immunofluorescence assay to determine the extrinsic incubation period and infection rate. As the temperature increased, the extrinsic DENV2 incubation period in Ae. albopictus gradually shortened, and infection rates showed a tendency to initially increase, followed by a subsequent decrease.

The objective of this study was to investigate the expression of peroxisome proliferator-activated receptor-γ (PPAR-γ) in adipose tissue of the rat model of polycystic ovary syndrome (PCOS), induced by dehydroepiandrosterone (DHEA). Sixteen sexually immature Sprague-Dawley female rats were randomly assigned to the DHEA (n=8) or control (n=8) group. Adipose tissue was collected from the two rat groups following subcutaneous injection of DHEA in the DHEA group and a standard laboratory diet in the control group for 20 consecutive days. Reverse transcription polymerase chain reaction and western blot analysis were performed to detect expression of PPAR-γ at the mRNA and protein level in the adipose tissue. Both PPAR-γ mRNA and protein levels were decreased in the adipose tissue of DHEA‑induced PCOS rats compared to the control group. This decrease was significant (P

Boswellin (BE), a methanol extract of the gum resin exudate of Boswellia serrata, contains naturally occurring triterpenoids, beta-boswellic acid and its structural related derivatives, has been used as a traditional medicine for the treatment of inflammatory and arthritic diseases. Topical application of BE to the backs of mice markedly inhibited 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced increases in skin inflammation, epidermal proliferation, the number of epidermal cell layers, and tumor promotion in 7,12-dimethylbenz[a]anthracene (DMBA)-initiated mice. Feeding 0.2% of BE in the diet to CF-1 mice for 10-24 weeks reduced the accumulation of parametrial fat pad weight under the abdomen, and inhibited azoxymethane (AOM)-induced formation of aberrant crypt foci (ACF) by 46%. Addition of pure beta-boswellic acid, 3-O-acetyl-beta-boswellic acid, 11-keto-beta-boswellic acid or 3-O-acetyl-11-keto-beta-boswellic acid to human leukemia HL-60 cell culture inhibited DNA synthesis in HL-60 cells in a dose-dependent manner with IC50 values ranging from 0.6 to 7.1 microM. These results indicate that beta-boswellic acid and its derivatives (the major constituents of Boswellin) have anti-carcinogenic, anti-tumor, and anti-hyperlipidemic activities.

Female CD-1 mice were treated topically with a low (25-50 nmol) or high (800 nmol) dose of benzo[a]pyrene (BP) or acetone vehicle, followed by 5 nmol 12-O-tetradecanoylphorbol 13-acetate (TPA) twice a week for 26 weeks. Selective UV radiation fractionation followed by PCR methods were used to analyze histologically defined subsets of cells (approximately 100-200 cells) on formalin-fixed, paraffin-embedded and HE stained microscope sections. DNA samples from normal-appearing, hyperplastic or tumor regions from the skin of animals from each treatment group were isolated and amplified by PCR with c-Ha-ras-specific primers. Single-strand conformation polymorphism (SSCP) analyses were performed on both exon 1 and 2 products from each sample. DNA extracted from each aberrant band of SSCP analyses was amplified by PCR for further sequence analysis. The data indicate that c-Ha-ras mutations can be detected in normal-looking and hyperplastic epidermal cells as well as in tumor cells obtained from mice initiated with BP and promoted with TPA. The frequencies of c-Ha-ras mutations for normal-looking, hyperplastic and tumor samples were 3/20 (15%), 8/17 (47%) and 58/68 (85%), respectively, for the low dose group and 8/18 (44%), 10/20 (50%) and 64/86 (74%), respectively, for the high dose group. These observations indicate that there were no dose dependencies in the mutation frequencies for normal-looking, hyperplastic and tumor samples. For combined high dose and low dose samples, differences in mutation frequencies of the c-Ha-ras gene between the normal-looking, hyperplastic and tumor samples were highly significant (P0.0001, Fisher's exact test). All mutations detected were located at codons 12, 13 and 61 of the c-Ha-ras gene. With the numbers in parentheses indicating the nucleotide position in the coding sequence of the c-Ha-ras proto-oncogene, the distributions of mutations for G--A (35), G--T (35), G--C (37), G--T (38), C--A (181), A--T (182) and A--G (182) in the low dose tumors were 5, 2, 11, 74, 0, 7 and 2%, respectively, and the distribution of mutations in tumors from animals treated with a high dose of BP were 3, 7, 13, 61, 15, 1 and 0%, respectively. Differences in the global mutation spectra (site and kind of all mutations) for the c-Ha-ras gene between the high and low dose group tumors were statistically significant (P0.004, Fisher's exact test) and the major difference between these two groups was C--A (181) base substitutions. In summary, our data indicate that: (i) 79% of the BP/TPA skin tumors in CD-1 mice had c-Ha-ras mutations for the combined data for high dose and low dose tumors; (ii) the major mutations detected in BP/TPA skin tumors were G--T transversions; (iii) the global mutation profile in the c-Ha-ras proto-oncogene in skin tumors obtained after initiation with a low dose of BP was different from that obtained after initiation with a high dose of BP.

Treatment of SKH-1 mice with ultraviolet B light (UV-B, 30 mJ/cm2) twice a week for 22-23 weeks resulted in tumor-free animals with a high risk of developing malignant and nonmalignant tumors during the next several months in the absence of further UV-B treatment (high-risk mice). In three separate experiments, oral administration of green tea or black tea (4-6 mg tea solids/ml) as the sole source of drinking fluid for 18-23 weeks to these high-risk mice inhibited the formation and decreased the size of nonmalignant squamous cell papillomas and keratoacanthomas as well as the formation and size of malignant squamous cell carcinomas. In one experiment all these inhibitory effects of tea were statistically significant, whereas in the two other experiments many but not all of the inhibitory effects of tea were statistically significant. The decaffeinated teas were inactive or less effective inhibitors of tumor formation than the regular teas, and adding caffeine back to the decaffeinated teas restored biological activity. Oral administration of caffeine alone (0.44 mg/ml) as the sole source of drinking fluid for 18-23 weeks inhibited the formation of nonmalignant and malignant tumors, and this treatment also decreased tumor size in these high-risk mice.

Female Sencar mice (6 weeks old) were administered 1 mg of 7,12-dimethylbenz[a]anthracene (DMBA) by oral gavage once a week for 5 weeks. At 20 weeks after the first dose of DMBA, 68% of mice developed mammary tumors (the average 1.08 tumors per mouse) and 45% had lymphomas/ leukemias. Feeding 1% dibenzoylmethane (DBM) in AIN 76A diet, starting at 2 weeks before the first dose of DMBA and continuing until the end of the experiment, inhibited both the multiplicity and incidence of DMBA-induced mammary tumor by 97%. The incidence of lymphomas/ leukemias was completely inhibited by 1% DBM diet. In contrast, feeding 2% curcumin diet had little or no effect on the incidence of mammary tumors, and the incidence of lymphomas/leukemias was reduced by 53%.

To investigate the clinicopathological characteristics and prognosis of gastric neuroendocrine carcinoma (NEC).Clinical data of 42 patients with gastric neuroendocrine carcinoma admitted in the Cancer Hospital of Zhengzhou University between May 2006 and July 2011 were analyzed retrospectively. The prognostic factors were determined by Log-rank test.Gastric NEC was found in 42 (0.83%) of 5046 patients with gastric cancer during the same period, including 37 males and 5 females. The average age of the patients was 63 years old at the diagnosis. Forty patients underwent R0 resection and 2 patients R1 resection. Forty patients received routine adjuvant chemotherapy with fluorouracil plus oxaliplatin. The median follow-up duration was 26.0 months (range 4-70 months). The median survival was 25.0 months, and the overall 1-, 3-, 5-year survival rates were 71.4%, 26.2% and 11.9%, respectively. Univariate analysis revealed that maximum tumor diameter, tumor invasion depth, lymph node metastasis, lymphatic invasion, stage, and curability were associated with survival (all P0.05).Gastric NEC is rare. Curative operation is essential for improving the prognosis, while the choice of comprehensive treatment after surgery should be optimized.

To observe the effect of electroacupuncture (EA) at different time-points after cervical carcinoma surgery on urinary bladder function of uroschesis patients so as to determine the optimum time of acupuncture intervention.Sixty cervical cancer post-operation patients with catheter due to uroschesis were randomly and equally divided into late treatment group (acupuncture intervention was given from the over 15th day on after surgery) and early treatment group (acupuncture was given from the 7th day to the 14th day after surgery). Bilateral Shangliao (BL 31), Ciliao (BL 32), Zhongliao (BL 33), Xialiao (BL 34), Zhibian (BL 54), Yinlingquan (SP 9) and Sanyinjiao (SP 6) were punctured with filiform needles combined with electrical stimulation of bilateral BL 31 and BL 34 for 30 min, once daily for 10 sessions. The residual urine volume was measured before treatment and after 5 and 10 sessions of treatment separately.After 5 and 10 sessions of treatment, the average residual urine volumes of both late treatment and early treatment groups were decreased significantly ( P0.05), and the residual urine volume level of the early treatment group was markedly lower than that of the late treatment group (P0.05). After 5 sessions of acupuncture treatment, of the two 30 cases in the late treatment and early treatment groups, 8 and 17 had an automatic micturition, 22 and 13 needed catheter retention, and following 10 sessions of treatment, 22 and 27 had an automatic micturition, and 8 and 3 still needed catheter retention, respectively. Regarding the functional recovery state of the urinary bladder, of the two 30 cases in the late treatment and early treatment groups, 6 and 14 were good, 24 and 16 poor respectively following 5 sessions of treatment; 15 and 22 were good, 15 and 8 were poor respectively following 10 sessions of treatment. The therapeutic effects of the early treatment group were apparently superior to those of the late treatment group. The number of the treatment sessions for recovering the bladder function was obviously fewer in the early treatment group than in the late treatment group (P0.05).Early acupuncture intervention is significantly better than late treatment for reducing residual urine volume and promoting bladder function recovery for uroschesis patients undergoing cervical cancer operation.

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused byKITgene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneousMC1R(a gene which is associated with the hair color) variant (p.I120T) coordinating withKITmutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening ofKITandMC1Rgenes identified that only a splicing mutation (c. 2484+1G>A) ofKITgene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.

To observe the change in expression of vascular endothelial growth factor (VEGF) in serum and wound tissue of rats with electrical burn (EB), and to explore its regulation mechanism in the pathological changes of EB.Sixty-four SD rats were divided into normal control group (n = 8) and EB group (n = 56) according to the random number table. Eight rats in EB group were sacrificed at post injury hour (PIH) 6 and on post injury day (PID) 1, 3, 7, 14, 21, and 28, to collect wound muscle tissue and serum samples. Histopathological changes in wound tissue were observed with HE staining. The serum content of VEGF was determined with double-antibody sandwich enzyme-linked immunosorbent assay. The expression level of VEGF in wound tissue was determined with Western blotting. VEGF expression intensity in wound tissue was observed with immunohistochemical staining. The microvessel density (MVD) was calculated. The correlation between VEGF expression intensity and MVD was analyzed. Muscle tissue of calf and serum of the rats in normal control group without any treatment were collected for above-mentioned observations and determinations. Data were processed with one-way analysis of variance and Spearman hierarchy correlation analysis, and LSD-t test was applied for paired comparison.(1) In EB group, breakage of muscle fiber, heavy infiltration of inflammatory cells, and obvious tissue edema were observed at PIH 6 and on PID 1; new vessels were observed on PID 3; amount of granulation tissue and number of new vessels were found to be increased on PID 7. (2) In EB group, the serum level of VEGF was (43 ± 11) pg/mL at PIH 6, (44 ± 11) pg/mL on PID 1, and (74 ± 27) pg/mL on PID 14, which were all significantly higher than that in normal control group [(15 ± 9) pg/mL, with t values from 4.001 to 5.724, P values all below 0.01]. (3) The protein expression level of VEGF of wound tissue in EB group was higher than that in normal control group (0.21 ± 0.09) at each time point. The protein expression level of VEGF in EB group peaked on PID 7 (0.63 ± 0.13, t = 4.965, P0.05). (4) In EB group, strongly positive expression of VEGF was observed in inflammatory cells at early stage and in new vascular endothelial cells at late stage. (5) The expression intensity of VEGF was positively correlated with MVD in wound tissue on PID 3, 7, 14, 21, and 28 in EB group (r(s) = 0.834, P0.01).Different expression levels of VEGF were observed in serum and wound tissue of rats at various stages after EB, and they were closely correlated with different stages of fluid exudation and wound healing process after EB.

Loss-of-function mutations in filaggrin gene (FLG; OMIM #135940) have been reported to cause the semi-dominant keratinizing disorders such as ichthyosis vulgaris (IV; OMIM #146700) and atopic dermatitis (AD; OMIM #605803). Recent linkage analysis and immunohistochemical studies suggest the possible contribution of FLG to psoriatic susceptibility. However, no susceptibility variant in FLG gene associated with psoriasis (OMIM #177900) has been identified. In this study, we identified a non-sense mutation of FLG (p.K4022X) in a Chinese psoriasis/IV coexisting family. The homozygous p.K4022X mutation was detected in a psoriasis patient, whereas the heterozygous p.K4022X mutation was identified in two IV patients and four apparently normal family members. We also genotyped p.K4022X variant in 441 sporadic Chinese psoriasis patients and found homozygous mutation in two patients, while no homozygous variant was found in 500 control individuals. After sequencing the entire coding region of FLG gene in 441 psoriasis patients, we identified another five mutations (p.R826X, p.W2583X, c.7945delA, c.3321delA and p.Q2417X). Although all six FLG mutations as a whole was not significantly associated with psoriasis (P = 0.105), mutation p.K4022X was significantly associated with psoriasis (P < 0.05). Our data thus indicates an association of FLG with psoriasis in Chinese population.

To observe the effects of traditional Chinese medicine mask combined with skin care in the treatment of facial pigmentation after burns.Forty-one patients with facial pigmentation after burns hospitalized from January 2009 to June 2010 were enrolled and divided into treatment group (n = 26, odd number) and control group (n = 15, even number) according to the visiting order. After cleaning, massaging, and steam spraying to faces, patients in treatment and control groups were respectively treated with traditional Chinese medicine mask developed by physicians in our hospital and common commercial beauty mask. Masks were removed when they became completely dry. The treatment was repeated every other day. Ten times made up a course of treatment. Three consecutive courses were carried out on each patient. Before treatment and at the end of each course, the skin color differences were measured with Vancouver Pigmented Scar Scale; image gray scale value of pigmented skin was measured with image analysis technique. Satisfaction degree acknowledged by both patients and physicians were recorded at the end of each course; adverse effects were recorded; and the overall efficacy between two groups was compared. Data were processed with chi-square test or t test.Skin color differences, image gray scale value of patients in treatment group were close to those in control group before treatment (with t value respectively 0.800 and 0.694, P values all above 0.05). Skin color differences, image gray scale value, and satisfaction degree acknowledged by both patients and physicians in treatment group were better than those in control group at the end of each course. At the end of the third course of treatment, the skin color differences in treatment and control groups scored 0.5 ± 0.4 and 1.1 ± 0.6, respectively, with image gray scale value of 55 ± 5 and 66 ± 6, respectively, which were statistically different from each other (with t value respectively 3.389 and 5.102, P values all below 0.01). The overall efficacy of the treatment group was 92.3%, which was much better than that of the control group (53.3%, χ(2) = 6.31, P0.05). No allergy caused by the traditional Chinese medicine mask was observed during the treatment.The traditional Chinese medicine mask combined with skin care is effective for the treatment of facial pigmentation after burns.

To study the clinical distribution characteristics and vicissitude of antibiotic resistance of Acinetobacter baumannii (AB), and to look for the risk factors of AB infection in order to provide reasonable reference for the prevention and treatment of its infection.Specimens of blood, venous catheters, sputum, wound exudates and pharyngeal swabs from 156 patients hospitalized in our burn ICU from January 2006 to December 2008 were collected and cultured. The clinical distribution and antibiotic resistance of AB were determined and analyzed. The risk factors related to AB infection were analyzed. Drug resistance rate data were processed with WHONET 5.3 software; the other data were processed with chi-square test and Logistic regression analysis.Ninety-two strains of AB were identified during the three years from different kinds of specimens, with 41 (44.6%) from wound exudates, 14 (15.2%) from pharyngeal swabs and sputum respectively, 13 (14.1%) from blood, and 10 (10.9%) from venous catheters. AB accounted for 23.1% (30/130), 27.5% (25/91), 28.2% (37/131) respectively among the strains detected in 2006, 2007, and 2008. During the three years, except for imipenem and cefoperazone/sulbactam, the average resistance rates of AB to other ten commonly used antibiotics were all above 50.0%. Burn area (χ(2) = 24.374, P = 0.000), mechanical ventilation (χ(2) = 8.968, P = 0.003), duration of use of antibiotics (χ(2) = 3.981, P = 0.046), and deep venous catheterization (χ(2) = 9.170, P = 0.002) were the risk factors of AB infection, and the former two were independent risk factors.There is a pan-drug resistance tendency of AB in our burn ICU, and the positive culture rates are increasing in recent years. Disinfection and isolation measures, appropriate use of antibiotics, avoidance of invasive performances such as deep venous catheterization and tracheostomy, or shortening their duration are important means to prevent and control infection of AB.

To summarize the experiences and shortcomings of repair of wounds on hands due to electrical burns with flaps, aiming at further improvement.Clinical data of 425 patients with electrical burn of hands admitted to Burn Institute of Wuhan, City Hospital NO. 3Tongren Hospital of Wuhan University from January 2000 to December 2006 were collected and summarized. Therapeutic methods and outcomes of all patients were statistically analyzed. Flap types, complications after surgery and problems existed in patients having undergone flap transplantation were summarized. Patients were divided into surgery within 7days post burn (PBD) group (SW) and surgery after PBD 7 group (SA) according to the timing of surgery. Survival rate of flaps and incidence of complications in patients of two groups were compared.Out of the 425 patients, 348 (90.2%) patients underwent surgery, among which 248 flaps of different types were transplanted in 209 patients, including 202 (81.5%) distant pedicle flaps, 19 (7.7%) local flaps, 12 (4.8%) free flaps, and 15 (6.0%) other kinds of tissue flaps. Five flaps failed because of necrosis of torn off, and the resulting wounds were treated with other methods. Eight flaps showed necrosis of distal margin, and the wound healed with dressing changing or skin grafting. All the remaining flaps survived with satisfactory cosmetic and functional results. In SW group (n = 170) and SA group (n = 78), survival rate of flaps was respectively 98.8% (168/170) and 96.2% (75/78), incidence of complications was respectively 10.6% (18/170) and 12.8% (10/78). There was no statistical difference between above two sets of data (with chi(2) value respectively 0.81 and 0.27, and P values both above 0.05).There are many types of flaps that can be used to repair electric burn wounds on hands. Appropriate choice and design of flaps, skillful operation, and careful post-operation observation and treatment are key points for good therapeutic effect.

Waardenburg syndrome (WS) is a rare disorder characterized by distinctive facial features, pigment disturbances, and sensorineural deafness. There are four WS subtypes. WS1 is mostly caused by PAX3 mutations, while MITF, SNAI2, and SOX10 mutations are associated with WS2. More than 100 different disease-causing mutations have been reported in many ethnic groups, but the data from Chinese patients with WS remains poor. Herein we report 18 patients from 15 Chinese WS families, in which five cases were diagnosed as WS1 and the remaining as WS2. Clinical evaluation revealed intense phenotypic variability in Chinese WS patients. Heterochromia iridis and sensorineural hearing loss were the most frequent features (100% and 88.9%, respectively) of the two subtypes. Many brown freckles on normal skin could be a special subtype of cutaneous pigment disturbances in Chinese WS patients. PAX3, MITF, SNAI2, and SOX10 genes mutations were screened for in all the patients. A total of nine mutations in 11 families were identified and seven of them were novel. The SOX10 mutations in WS2 were first discovered in the Chinese population, with an estimated frequency similar to that of MITF mutations, implying SOX10 is an important pathogenic gene in Chinese WS2 cases and should be considered for first-step analysis in WS2, as well as MITF.

Purpose We aimed to investigate scaphoid and lunate movement in radial deviation and in slight and moderate ulnar deviation ranges in vivo. Methods We obtained computed tomography scans of the right wrists from 20° radial deviation to 40° ulnar deviation in 20° increments in 6 volunteers. The 3-dimensional bony structures of the wrist, including the distal radius and ulna, were reconstructed with customized software. The changes in position of the scaphoid and lunate along flexion–extension motion (FEM), radioulnar deviation (RUD), and supination–pronation axes in 3 parts—radial deviation and slight and moderate ulnar deviation—of the carpal RUD were calculated and analyzed. Results During carpal RUD, scaphoid and lunate motion along 3 axes—FEM, RUD, and supination–pronation—were the greatest in the middle third of the measured RUD (from neutral position to 20° ulnar deviation) and the smallest in radial deviation. Scaphoid motion along the FEM, RUD, and supination–pronation axes in the middle third was about half that in the entire motion range. In the middle motion range, lunate movement along the FEM and RUD axes was also the greatest. Conclusions During carpal RUD, the greatest scaphoid and lunate movement occurs in the middle of the arc—slight ulnar deviation—which the wrist frequently adopts to accomplish major hand actions. At radial deviation, scaphoid and lunate motion is the smallest.

To investigate three-dimensional kinematics of the superficial and deep portion of triangular fibrocartilage complex (TFCC) in different parts of the forearm rotation.Six wrists of 6 volunteers were used to obtain CT scans at different positions of the wrist. The wrists were scanned from 90 degrees of pronation to 90 degrees of supination at an interval of 30 degrees. The 3-dimensional radius and ulna were reconstructed with customized software and changes in length of the superficial and deep portion of TFCC during forearm rotation.In forearm pronation, the superficial dorsal portion and the deep palmar portion of the TFCC were tight. While the superficial palmar portion and the deep dorsal potion of the TFCC were lax. In supination, the changes in length of all these fibers were reverse.In forearm rotation one portion fibers of dorsal TFCC and one portion fibers of palmar TFCC are tight, and this mechanism controls stability during DRUJ rotation.

To provide the basic knowledge of wrist joint for diagnosing of these morphological change in pathological condition by measuring the posteroanterior X-ray films of different types of distal radius fracture by AO classification.Eleven radiographic indexes were measured including following 7 new parameters of 83 cases of distal radius fracture: ulnar styloid length (USL), ulnar head length (UHL), ulnar head diameter (UHD), maximal distal radius width (MDRW), proximal distal radius width (PDRW), sigmoid notch length (SNL) and sigmoid notch width (SNW) by Pacs system in standard X-ray films. The indexes were defined by the ratio of these parameters to the length of the third metacarpal. Statistical significance of indexes and correlations of parameters were analyzed by SPSS 16.0.It was found that indexes of 11 parameters and 27 pairs of indexes had significantly different. Compared the indexes of 14 groups with normal group existed statistical significance, 62 pairs value of 11 parameters had correlations.The study provides additional radiographic index that will be helpful to more careful diagnosis and treatment of the distal radius fractures and their associated injuries such as ulnar wrist injuries or carpal instability.

To investigate the lengths and changes of selected ligaments stabilizing the thumb carpometacarpal (CMC) joint during thumb motion in vivo.We obtained serial computed tomography scans of the thumb CMC joints of 6 healthy volunteers during thumb flexion, abduction, and opposition. We reconstructed the 3-dimensional structures of the bones of the thumb CMC joint using customized software and modeled the paths of fibers of 5 principal ligaments--deep anterior oblique (beak), dorsoradial, posterior oblique, intermetacarpal, and dorsal intermetacarpal--at each of the CMC joint positions studied. We estimated the virtual lengths of these ligaments in neutral position, flexion, abduction, and opposition of the CMC joint by measuring the distances between the origin and the insertion of individual ligaments, and statistically analyzed the length changes.The estimated length of the CMC joint ligaments underwent significant changes during thumb motion in vivo. Thumb flexion led to the greatest changes in ligament lengths. During flexion, all the ligaments lengthened significantly (p.05 or p.01), except for the beak ligament, which shortened significantly (p.001). The lengths of the ligaments changed similarly during thumb abduction and opposition, except for the dorsoradial ligament. In both motions, the posterior oblique and dorsal intermetacarpal ligaments lengthened and the beak ligament shortened significantly (p.05 or p.01). During the 3 thumb motions, the beak ligament underwent marked shortening, while the other measured ligaments lengthened to varied extent.The estimated lengths of principal ligaments stabilizing the CMC joint change substantially during thumb motions in vivo. Thumb flexion causes the greatest changes of the ligament lengths; abduction and opposition result in similar changes in the ligament lengths. The beak ligaments shorten while the other ligaments lengthen. This in vivo study suggests that thumb motions expose the CMC joint ligaments to different tensions at these thumb positions, and that the ligaments are under lower tension during thumb opposition and abduction than during flexion.

To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vulgaris families from Hunan Province. Venous blood samples were collected from affected and unaffected family members and genomic DNA was extracted. We then performed genome scan and linkage analysis using microsatellite markers around known ichthyosis vulgaris loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgaris was located near D1S498 (1q21), which overlapped with known ichthyosis vulgaris loci. In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified.

To summarize the characteristics and treatment of burn casualties of yellow phosphorus explosion, so as to share the experiences in emergency treatment.By analyzing the data related to this accident, the characteristics of the injury and experiences of treatment for mass burn casualties from yellow phosphorous explosion were summarized.Eighty-one patients, 72 males and 9 females, were injured in a yellow phosphorus explosion. The mean age of the patients was 24 +/- 13 years old (5-42 y). The mean total burn surface area was (9 +/- 11)% [(0.4% - 70.0%))] TBSA, and the mean burn surface area of III degrees/IV degrees was (7 +/- 10)% [(0.4% - 60.0%)] TBSA. Most of the patients showed the symptoms and signs of phosphorus poisoning. Among all the patients, 27 cases (33.3%) showed hepatic dysfunction, 15 cases (18.5%) had renal dysfunction, 42cases (51.9%) showed electrolytes disorders. Among the 8 patients with burn surface area over 10% TBSA and less than 20% TBSA, high levels of cardiac enzymes were found in 6 cases, anaemia in 7 cases (3 with progressive anaemia), asphyxia occurred in 1 case 48 hours after burn, and in 1 case complicated with stress ulcer. Escharectomy and skin grafting were performed within four days after burn in 72 patients. All the patients survived, some of them showed impaired hand function and hypertrophic scar, and partial finger amputation was done in 3 patients.Yellow phosphorus explosion produces deep burn injuries in surrounding people especially in exposed parts such as head, hand and so on. Adequate organization of medical resources for emergency treatment, early debridement, and accelerating excretion of phosphorus are the key points for the successful rescue of mass casualties.

To identify the MLH1 and MSH2 gene mutation in two hereditary nonpolyposis colorectal cancer (HNPCC) families.Polymerase chain reaction and DNA sequencing were used to screen for MLH1 and MSH2 gene mutation, and PCR-restriction fragment length polymorphism and DNA sequencing were performed to confirm the mutation.By DNA sequencing, a novel mutation of c.243_244insA located at the exon 3 of MLH1 gene was detected in family A, while c.1215_1218dupCCGA mutation located at the exon 7 of MSH2 gene was detected in family B. These two mutations can cause the formation of premature proteins.The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.

Administration of caffeine was shown in earlier studies to enhance UVB-induced apoptosis and inhibit UVB-induced carcinogenesis in hairless SKH-1 mice. Here, we describe a potential mechanism for these in vivo effects. A single irradiation of mouse skin with UVB activated the ataxia-telangiectasia mutated– and Rad3-related (ATR) pathway, causing a severalfold increase in keratinocytes with phospho-Chk1 (Ser345) and a marked decrease in mitotic keratinocytes with cyclin B1 compared with baseline. When given in the drinking water for 1 to 2 weeks before UVB, caffeine (0.4 mg/mL) markedly inhibited the UVB-induced phosphorylation of Chk1 on Ser345 and caused premature expression of cyclin B1 in the epidermis. Normal keratinocytes had delayed mitotic entry for >10 h following UVB. Caffeine administration reduced this mitotic delay to only 4 h and caused markedly increased apoptosis by 6 to 10 h after UVB. p53 knockout mice were used to determine the role of p53 in these processes. Irradiation with UVB markedly decreased the number of mitotic keratinocytes with cyclin B1 in p53 knockout mice, and topical caffeine immediately after UVB abrogated this response and increased UVB-induced apoptosis severalfold. These effects of caffeine in knockout mice were substantially greater than in wild-type mice. The ability of caffeine to promote the deletion of p53−/− keratinocytes may be relevant to its inhibitory effect on UVB-induced skin cancer. Our studies indicate that administration of caffeine enhances the removal of DNA-damaged cells by inhibiting the ATR-mediated phosphorylation of Chk1 and prematurely increasing the number of cyclin B1–containing cells that undergo lethal mitosis. [Cancer Res 2008;68(7):2523–9]

To explore the disease associated gene mutation of multiple exostoses by family analysis.Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.We found a novel heterozygous mutation c.811T -C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.

Dividing the mandible into lower part of mandibular ramus, mandibular angle, mandibular body, chin, we designed subarea ostectomy for reduce the width of anterior, body, posterior part of of the lower face.Combide with splitting ostectomy of the out layer of mandible, ostectomy of inferior border of mandible and augmentation of the chin, re-shape the mandibular angle, body, and chin, corrected the un-beauty of the lower face and side-face.From May 2003 to August 2005 , a total of twenty-three patients have been operated on by this method with satisfactory results.Subarea ostectomy of mandible is more effective in re-shaping the whole lower face.

To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.