The vision of molecular nanomachines is currently realized in seq

The vision of molecular nanomachines is currently realized in sequentially acting modular nanotransporters, consisting of four modules including a target, a membrane and nuclear translocation sequence, as well as a drug attachment domain.

Through the rational combination of existing drugs and the synergy of their effects, a rapid check details amplification

of their potency may be achieved, greatly accelerating drug development. A further enhancement of simultaneous multitarget action is enabled through the design of multifunctional hybrid drugs with sequential effects that make these hybrid molecules resemble intelligent nanomachines.”
“Noncompaction cardiomyopathy (NCCM) is a recently

recognized form of cardiomyopathy with a variable clinical presentation. This report describes NCCM of a newborn presenting with hydrops fetalis and pulmonary hypertension. To date, this has not been described in the literature. As knowledge of this condition grows, the need to recognize NCCM becomes more important.”
“Robotic prostatectomy training as part of mainstream surgical training will be difficult. The primary problems revolve buy PHA-739358 around the inconsistencies of standard sugery. Many surgeons are still in the learning curve, as is the understanding of the true capabilities of the robot. The important elements of robotic surgery actually enhance basic laparoscopic techniques. Sapitinib clinical trial The prostate has been shown to be an organ where this new technology has a niche. As we move toward cross specialty use the robot although extremely expensive, may be the best way to train the laparoscopic surgeon of the future. (C) 2009 Elsevier Ltd. All rights reserved.”
“Background: Host defence peptides (HDPs), including human beta-defensins (hBDs) and psoriasin/S100A7, exert

antimicrobial and immunoregulatory functions of the innate defense system. In addition to these functions, the search for cancer biomarkers has identified HDPs as playing a potential role in both tumor suppression and oncogenesis. Although HDPs are highly expressed in salivary glands, their role as molecules for potential diagnostic and therapeutic approaches has not yet been analyzed.

Objective: The aim of the present study was to investigate whether expression levels of putative pro- or anti-oncogenic hBDs, including hBD-1, -2, -3, and psoriasin/S100A7, are altered in salivary gland tumor tissue as potential targets for molecular-based therapeutic approaches.

Methods: We analyzed the expression levels of hBD-1, -2, -3, and psoriasin/S100A7 by quantitative real-time polymerase chain reaction (qrt-PCR) and immunohistochemistry in a case control study by comparing salivary gland tumor samples relative to healthy control specimens from 58 patients.

1 degrees The mean Constant score improved from 28 0 points to 7

1 degrees. The mean Constant score improved from 28.0 points to 74.3

points in shoulders in which the teres minor muscle was normal before the surgery, and it improved from 20.8 to 54.6 points in shoulders with an atrophic teres minor muscle. Scapular notching was observed in ten of the eighteen shoulders. A fracture involving the acromion, acromial spine, coracoid, or greater tuberosity was observed either intraoperatively or postoperatively in four of the eighteen shoulders. One case of transient axillary nerve injury was noted. There were no cases of dislocation, infection, or component loosening. None of the patients required revision surgery for any reason.

Conclusions: Comparatively good outcomes were observed in the short to intermediate term after reverse shoulder arthroplasty in patients with rheumatoid arthritis. However, surgeons should buy THZ1 be aware of the risk of intraoperative and postoperative fractures in this patient group.”
“The amorphous chalcogenide glass Sn1As20S79 is demonstrated to undergo permanent changes in refractive index on irradiation with ultraviolet light. The refractive properties of

this material and the effect Navitoclax purchase of annealing at temperatures below the glass transition temperature are investigated in detail. An Sn1As20S79 strip waveguide is fabricated using this photoinduced refractive index change, and the device is shown to function as expected with good propagation characteristics for the 632.8 nm guided mode. (C) 2009 American Institute of Physics. [DOI: 10.1063/1.3120864]“
“SETTING: There are currently no routine screening procedures Stattic for active tuberculosis (TB) or latent tuberculous infection (LTBI) in Malaysian prisons.

OBJECTIVE: To determine the prevalence and correlates of LTBI and active TB symptoms among Malaysian prisoners

with and without human immunodeficiency virus (HIV) infection using the tuberculin skin test (TST) and the World Health Organization TB symptom-based screening instrument.

DESIGN: A cross-sectional survey of 266 prisoners was performed in Kelantan, Malaysia. Consenting participants underwent two-step TST and were screened for active TB symptoms. Standardized cut-offs of respectively,>= 5 and >= 10 mm were used to define reactive TST among prisoners with and without HIV. Clinical and behavioral data were assessed and HIV-infected prisoners were stratified by CD4 status.

RESULTS: Overall LTBI prevalence was 87.6%, with significantly lower TST reactivity among HIV-infected than non-HIV-infected prisoners (83.6% vs. 91.5%, P < 0.05); however, TB symptoms were similar (16.9% vs. 10.1%, P = 0.105). On multivariate analysis, previous incarceration (aOR 4.61, 95 %CI 1.76-12.1) was the only significant correlate of LTBI. Increasing age (aOR 1.07, 95% CI 1.01-1.13), lower body mass index (aOR 0.82, 95%CI 0.70-0.96) and TST-reactive status (aOR 3.46, 95%CI 1.20-9.97) were correlated with TB symptoms.

(C) 2011 American Institute of Physics [doi:10 1063/1 3609064]“<

(C) 2011 American Institute of Physics. [doi:10.1063/1.3609064]“
“Background: Human immunodeficiency virus (HIV) remains a major cause of pediatric morbidity in Africa. In addition, HIV-exposed, but uninfected (HEU) infants can comprise a substantial proportion of all infants born in high prevalence countries and may also be a vulnerable group with special health problems.

Methods: A total of 14,110 infants were recruited within 96 hours of birth between November 1996 and January 2000. Rates and causes of sick clinic visits and hospitalizations

during infancy were investigated according to infant HIV infection group: infected-intrauterine, infected-intrapartum, postnatally-infected, HEU, and not-exposed (born to HIV-negative mother).

Results: A total of 382 infected-intrauterine, 499 infected-intrapartum, 188 postnatally-infected, Pitavastatin CUDC-907 2849 HEU, and 9207 not-exposed infants were included in the analysis. Compared

with not-exposed infants, HIV-infected infants made 2.8 times more all-cause sick clinic visits and required 13.3 times more hospitalizations; they had 7.2 times more clinic visits and 23.5 times more hospitalizations for lower respiratory tract infection after the neonatal period and were 159.9 times more likely to be hospitalized for malnutrition during the second half of infancy. Compared with not-exposed infants, sick clinic visits were 1.2 times more common among HEU infants, were inversely associated with maternal CD4 cell count, and were significantly higher for all HEU infants except those whose mothers had a CD4 count >= 800 cells/mu L, which was the mean value of HIV-negative women enrolled in the trial.

Conclusions: Morbidity is extremely high among HIV-infected infants. Compared with not-exposed infants, morbidity is higher among HEU infants and increases with severity

of maternal disease, but is significantly higher for all mothers with CD4 cell count <800 cells/mu L.”
“Stoma is surrounded by two guard cells, and regulates the contents of water and CO2 in plant, its opening and closing was affected by various factors. Recently, dehydroascorbate selleck products was found to induce stomata closure and H2O2 generation. However, the mechanism of H2O2 production is not clear. DPI and imidazole inhibit the flavoprotein and the b(-type) cytochrome components of the NADPH oxidase complex. Application of DPI or imidazole with DHA together impaired stomatal closure and elevation of H2DCF-DA fluorescent intensity induced by DHA in guard cells. CoCl2 and PD98059, as the blocker of calcium channel and the inhibitor of MAPKKK, both impaired stomatal closure induced by DHA. The results suggested that DHA-induced H2O2 generation via activation of NADPH oxidase, and thus resulting in stomatal closure. Moreover, Ca2+ channel and MAPK cascades were involved in stomatal closure induced by DHA. Crown Copyright (C) 2011 Published by Elsevier Masson SAS. All rights reserved.”
“Tunable 5.

(C) 2009 Society of Chemical Industry”
“Introduction: Drug-i

(C) 2009 Society of Chemical Industry”
“Introduction: Drug-induced glucose dysregulation and insulin resistance have been associated with weight gain and potential induction and/or exacerbation of diabetes mellitus in the clinic suggesting they may be safety biomarkers when developing antipsychotics. Glucose and insulin have also been suggested as potential efficacy biomarkers for some oncology compounds. The objective of check details this study was to qualify a medium throughput rat in vivo acute Intravenous Glucose Tolerance Test (IVGTT)

for predicting compounds that will induce altered blood glucose and/or insulin levels. Methods: Acute and sub-chronic studies were performed to qualify an acute IVGTT model. Double cannulated male rats (Han-Wistar and Sprague-Dawley) were administered vehicle, olanzapine, aripiprazole or other compounds at t = -44 min for acute studies and at time = -44 min on the last day of dosing for sub-chronic studies, treated with dextrose (time = 0 min; i.v.) and blood collected using an automated Culex (R) system for glucose and insulin analysis (time = -45, -1, 2, 10, 15, 30, 45, 60, 75, 90, 120, 150 and 180 min). Results: Olanzapine significantly increased glucose

and insulin area under TPX-0005 Protein Tyrosine Kinase inhibitor the curve (AUC) values while aripiprazole AUC values were similar to control, in both acute and sub-chronic studies. All atypical antipsychotics evaluated were consistent with literature references of clinical weight gain. As efficacy biomarkers, insulin AUC but not glucose AUC values were increased with a compound known to have insulin growth factor-1 (IGF-1) activity, compared to control treatment. Discussion: These studies qualified the medium throughput acute IVGTT model to more quickly screen compounds for 1) safety – the potential to elicit LY2603618 glucose dysregulation and/or insulin resistance and 2) efficacy – as a surrogate for compounds affecting the glucose and/or insulin regulatory pathways. These data demonstrate that the same in vivo rat model and assays can be used to predict both clinical safety and efficacy of compounds. (C) 2013 Elsevier Inc. All rights

reserved.”
“Radical cystectomy is associated with the highest morbidity and mortality of all commonly performed urological cancer treatment procedures. Postoperative infection remains a major problem. We herein report the results of an open prospective study involving radical cystectomies, undertaken to evaluate the efficacy of 0.5/2 g tazobactam-piperacillin (TAZ-PIPC) in the prevention of postoperative infectious complications. Antimicrobial prophylaxis was performed using 0.5/2 g TAZ-PIPC (2.5 g i.v.) every 3 h during surgery and then twice a day for 3 days postoperatively. The patients were monitored to detect any postoperative infections. During surgery, irrigation fluid from the total abdominal cavity was taken for bacterial culture just before closing the abdomen.

Results Six domains were derived from the qualitative methods inv

Results Six domains were derived from the qualitative methods involving patient/parent interviews and expert opinion, with content saturation achieved, resulting in 48 items. The six domains consisted Ricolinostat of items measuring Pain Intensity/Location (9 items), Pain Interference (11 items), Worry (7 items), Emotions (3 items), Disease Symptoms/Treatment, (12 items), and Communication (6 items).

Conclusions Qualitative methods involving pediatric patients and parents in the item development process support the content validity for the PedsQL (TM) SCD Module. The PedsQL (TM) SCD Module is now undergoing national multisite field testing

for the psychometric validation phase of instrument development.”
“Evaluation of: Lee IT, Chan YC, Lin CW, Lee WJ, Sheu WH: Effect of cranberry extracts on lipid profiles in subjects with Type 2 diabetes. Diabetic Medicine 25, 1473-1477 (2008). Significant interest has focused on dietary factors for the prevention of cardiovascular disease (CVD). Cholesterol is a well-established biomarker for CVD risk and has, thus, been extensively examined in dietary intervention trials. Several functional foods have consistently demonstrated LDL-cholesterol-lowering effects, including recent evidence to suggest that cranberry extract may also be effective.

Thus, nutritional intervention may be an attractive therapeutic HM781-36B chemical structure target to bridge the gap between ordinary foods, aimed to maintain adequate nutrition status, and pharmaceutical agents. Future work will need to determine the specific mechanisms and long-term efficacy of cholesterol-lowering nutrients in relation to clinical CVD end points.”
“An experimental study on the dynamics behavior of homogeneous dielectric barrier discharge (HDBD) at atmospheric pressure is described in this paper. Two kinds of discharge mode, glow and Townsend discharge modes, can be easily identified according to the differential conductivity

of current-voltage relationship in the ascent stage of discharge current for the atmospheric HDBD. A (three-dimensional) 3D phase space made by discharge current, gas gap voltage, and charge density of GW4869 supplier dielectric-plate surface was utilized in the study. By projecting the discharge evolution trajectory in the 3D space, the 3D trajectory of multiple current peaks discharge in atmospheric helium shows a limited cycle with convolutions and undergoes a series of bifurcation process; however, the 3D trajectory of atmospheric N-2 HDBD is a limited cycle without any convolution and bifurcation process. In addition, the first ionization coefficient of working gas plays a key role to determine the discharge mode of atmospheric HDBD, the transition of discharge mode and the dynamics stability of atmospheric HDBD.

Methamphetamine-dependent volunteers (N=13), who were not seeking

Methamphetamine-dependent volunteers (N=13), who were not seeking treatment, were randomized to receive either modafinil (200 mg, PO) or matching placebo over three days (Days 1-3 or Days 8-10). On Day 1, subjects were randomized to modafinil or placebo in the morning, and then 3 and 6 h later received infusions of methamphetamine (0 and 30 mg, i.v.), after which cardiovascular and subjective

effects were assessed. On Day 3, participants completed i.v. self-administration sessions during which they made 10 choices for low doses of methamphetamine (3 mg, i.v.) or saline. Days SC79 manufacturer 4-7 were used as a washout period. On Day 8 participants were assigned to the alternate study medication (placebo or modafinil), and the same testing procedures were repeated through Day 10. The data reveal that modafinil treatment was well-tolerated and not associated with increased incidence of adverse events. In general,

modafinil reduced by similar to 25% ratings of methamphetamine-induced “”Any Drug Effect”", “”High”", and “”Want Methamphetamine”", and reduced total number of choices for methamphetamine and monetary value of methamphetamine, though none of these measures reached statistical significance. Given these encouraging, though non-significant trends, the primary conclusion https://www.selleckchem.com/products/R406.html is that it appears safe to proceed with modafinil in further clinical evaluations of therapeutic efficacy. (c) 2009 Elsevier Ireland Ltd. All rights reserved.”
“To evaluate the feasibility and surgical

outcome of laparoscopy-assisted surgery for large adnexal cysts.

From January 1998 to October 2007, 46 women underwent laparoscopy-assisted surgery for large adnexal cysts whose maximum diameter were between 10 and 20 cm, radiologic and laboratory features suggestive of benign disease. All the patients had a pre-operative ultrasound with or without computed tomography and CA-125 assessment. Patients’ demographics, clinical and ultrasound features, CA-125 values, surgical procedures, operative and post-operative complications, estimated amount of blood loss (EBL), operative time, conversion to laparotomy and the pathological findings were recorded.

Fourty-six consecutive patients underwent laparoscopy-assisted Selleck THZ1 surgery over 9 years. The mean and range of the patients’ age and body mass index were 34.1 +/- 6.3 and (21-45) years and 27.4 +/- 5.9 and (22-40), respectively. In all the patients, except one with borderline ovarian tumor, laparoscopy-assisted surgery was successful. There were no operative or post-operative complications. The mean and range of the operative time, EBL and hospital stay were 48.4 +/- 7.3 and (35-65) min, 55.0 +/- 28.9 and (25-150) mL, 1.49 +/- 0.50 and (1-3) days, respectively. The mean and range of the extracorporeal cystectomy time were 10.2 +/- 2.7 and (8-14) min.

The missense mutation A13S, GAAA insertion at intron 1 (+178A), a

The missense mutation A13S, GAAA insertion at intron 1 (+178A), and the deletions of +83C in intron I and Delta F166 in exon 5 are novel mutations.”
“Background The management of scarring (from acne, surgery, or disease) remains a common concern and an ongoing challenge, with improvement, not eradication, the goal. Methods To describe a growing strategy used in esthetic dermatology illustrating the effects of movement,

volume, and surface changes on skin aging, deformity, or disease using a grading scale of disease burden to classify scarred patients. Results Through the use of this grading scale and with emphasis on the role of surface, volume changes, and recurrent movement, GSK2879552 treatment planning will be suggested and relevant treatments reviewed. Tabulated treatment planning will also present algorithms summarizing a logical approach to the treatment of more-minor grades of scarring. Conclusion More-minor grades of scarring may be assessed in terms of treatments

to restore minor volume loss and to improve the surface of the skin.”
“Fresnel refractometry was used to follow the changes in the refractive index during the isothermal curing of a simple PF-6463922 difunctional epoxy resin, a commercial formulated multifunctional epoxy blend, and the same two resin systems modified by the addition of multiwalled carbon nanotubes. The refractive index change, monitored via an embedded optical fiber, was correlated with the degree of cure established from isothermal differential scanning calorimetry measurements.

A good correlation was established in all cases, indicating the potential of the technique to be used for online cure monitoring Tariquidar in thermosetting resin carbon nanocomposites. (C) 2009 Wiley Periodicals, Inc. J Appl Polym Sci 113: 730-735, 2009″
“The aim of this study was to elucidate the etiology and clinical features of Taiwanese girls with isosexual precocious puberty. 460 girls with precocious puberty were enrolled in this study. 284 of them had a GnRH test and 179 girls with gonadotropin-dependent precocious puberty (GDPP) underwent brain MRI. Our results showed 7% of these 460 girls had gonadotropin-independent precocious puberty (GIPP). The other 93% patients had GDPP and 96% of them were idiopathic. Functional ovarian cyst and hypothalamic hamartoma were leading causes of GIPP and organic GDPP, respectively. The presence of undetectable basal serum FSH and LH levels had a specificity of 95% in girls with GIPP. Among girls with GDPP, those aged <5 years had a higher percentage of detected CNS lesions than older girls (8% vs 3%). Girls with organic CNS lesions also had more advanced bone age SDS (6.9 +/- 3.3 vs 3.3 +/- 1.9), larger uterine volume (13.8 +/- 12.1 vs 6.6 +/- 8.1 cm(3)), higher basal serum estradiol (33.5 +/- 17.1 vs 26.8 +/- 18.

Results: Both extracts did not show considerable antifungal activ

Results: Both extracts did not show considerable antifungal activity against M. canis compared with terbinafine. The MICs of aqueous https://www.selleckchem.com/products/th-302.html and hydroalcoholic extracts were 30 and 20 mg.ml(-1), respectively. PC and SN30% groups showed normal hair growth on day 15 while their skin looked healthy on day 30 post-inoculation. Lesion

severity and clinical scores declined in SN30% and PC groups in comparison to NC group, on day 30 post-inoculation. Also, on day 30 post-inoculation, the clinical efficacy of the test formulations increased to 11.76, 23.52, 76.47, 5.88, and 94.11 % for SN10%, SN20%, SN30%, DMSO10%, and PC groups, find more respectively.

Conclusions: The hydroalcoholic extract of this plant could be further developed, with a view to its possibe use as an adjunct remedy for topical treatment of tinea corporis.”
“Objective: To clarify

the origin and pathways of ocular vestibular evoked myogenic potentials (oVEMPs) to air-conducted sound (ACS), we compared the results of oVEMPs with ACS, with oVEMPs with bone-conducted vibration (BCV), cervical VEMPs (cVEMPs) with ACS, and the caloric test in patients with unilateral vestibular schwannoma (VS).

Study Design: Retrospective review.

Setting: Tertiary referral center.

Patients: Forty-five patients with untreated unilateral VS.

Main Outcome Measure: Each patient underwent vestibular tests, including oVEMPs to ACS, oVEMPs to BCV, GW4869 cell line cVEMPs to ACS, and caloric tests. The correlations among these tests were evaluated.

Results: Of the 45 patients recruited, 28 patients (63%) showed reduced or absent oVEMPs to ACS solely on the affected side. There were no significant differences in abnormal response ratios among oVEMPs to ACS, oVEMPs to BCV,

cVEMPs to ACS, or the caloric test. The results of oVEMPs to ACS had a significant correlation with those of oVEMPs to BCV and the caloric test (p < 0.05) but not with those of cVEMPs to ACS (p < 0.05).

Conclusion: These findings support the hypothesis that oVEMP in response to ACS are predominantly mediated by the superior vestibular nerve and probably reflect the function of the utricle.”
“Background and objective: Several studies have determined reference values for airway resistance measured by the interrupter technique (Rint) in paediatric populations, but only one has been done on Latin American children, and no studies have been performed on Mexican children. Moreover, these previous studies mostly included children aged 3 years and older; therefore, information regarding Rint reference values for newborns and infants is scarce.

These are due to the formation of additional epsilon-(gamma-gluta

These are due to the formation of additional epsilon-(gamma-glutamyl)lysine bonds and “”Maillard cross-links”" within the SPI protein network during selleckchem the MTGase incubation and heating in the presence of ribose (i.e. reducing sugar). Network/non-network protein analysis found that network protein increased with cross-linking treatment, which also resulted in different SDS-PAGE profiles. As in non-network protein fraction, A(4) subunit was suggested to become part of the network protein as a result of combined cross-linking. (C) 2009 Elsevier Ltd. All rights reserved.”
“Dietary zinc deficiency may affect zinc homeostasis

in the brain and lead to reductions of neurogenesis and neuronal survival. However, the mechanisms responsible eFT-508 mw for the effects of zinc deficiency on hippocampal neurogenesis and neuronal death remain obscure. In the present study, young CD-1 mice were fed with zinc-deficient diet (0.85 ppm) for 5 weeks. The vesicular zinc was reduced at CA1 and CA3 regions

of the hippocampus in zinc-deficient mice. The significant decreased zinc ions was associated with a reduction in proliferating cells labeled with bromo-deoxyuridine (BrdU) and immature neurons labeled with doublecortin (DCX) immunoreactivity in the dentate gyrus of the hippocampus. The processes of DCX-positive neurons were shortened, and flexuously went through into the granular cell layer in zinc-deficient hippocampus. There was also a conspicuous increase in the number of TUNEL-positive cells in the hippocampus after zinc-deficient diet treatment. Meanwhile, the apoptosis proteins, including Fas, Fas ligand (FasL), apoptosis inducing factor (AIF), and caspase-3, were significantly activated in zinc-deficient

mouse hippocampus. These data suggest that chronic treatment with zinc-deficient diet GKT137831 chemical structure results in reduction in hippocampal neurogenesis and increases neuronal apoptosis, indicating that zinc deficiency is associated with destroying structural plasticity in the hippocampus.”
“Objective-To document the short- and long-term outcomes of surgical endodontic treatment in dogs in a clinical setting.

Design-Retrospective case series.

Animals-15 dogs that underwent surgical endodontic treatment.

Procedures-Medical records of dogs that underwent surgical endodontic treatment at 3 institutions from January 1995 to December 2011 were reviewed. Information extracted included signalment, history, initial clinical signs, physical and radiographic examination findings, treatment, and outcome. Outcome was determined through evaluation of the pre- and postoperative radiographs as well as clinical and radiographic findings at follow-up evaluations.

The MIC values varied with different organisms except in few case

The MIC values varied with different organisms except in few cases such as Staphylococcus aureus, Staphylococcus epidermidis, Salmonella typhimurium 1, Escherichia coli, Klebsiella pneumoniae 1 which belong to the two major groups of bacteria where a similar MIC value of 400 mg/l was observed. Interestingly, the clinical isolate of MRSA exhibited the lowest MIC of 300 mg/l. Most of the Gram negative bacteria and Candida tropicalis

were killed instantly at MIC concentrations ranging from 800 mg/l to 8000 mg/l. The acetone extract selleck products induced longer PAE ranging from 18.3 h to 20.3 h and 20 h to 21.6 h in some Gram positive such as Staphylococcus epidermidis, Enterococcus faecalis and Gram negative bacteria such as Klebsiella pneumoniae 2, and Salmonella typhimurium 2 respectively as compared to ciprofloxacin. The biosafety assays for mutagenicity and toxicity tested negative at 300 mg/l and 4000 mg/l concentrations. The major phytoconstituents established were alkaloids, flavonoids, tannins, diterpenes, triterpenes, and cardiac glycosides. Flavonoids Nutlin-3 and

diterpenes, exhibited inhibitory properties against all test organisms except Klebsiella pneumoniae 2 and Candida tropicalis. In conclusion, the identified active phytochemicals have exhibited antimicrobial potential against a wide range of medically important pathogens including MRSA, a drug resistant bug. Hence, M. oleifera pod husks which Emricasan are usually considered as agri-residues hold the potential for development of drugs or drug leads of broad spectrum activity including multidrug resistant

bugs which are currently of great concern. (C) 2013 Elsevier B.V. All rights reserved.”
“Objective: GJB2 mutation is recognized as the prevalent causes of non-syndromic hearing impairment (NSHI) worldwide. However, the mutation profiles of this gene are unknown in deafness probands in the consanguineous pedigrees in China. Therefore, this study aimed to characterize the forms and frequencies of GJB2 mutations in 35 students with hearing loss in the consanguineous families in Hubei province, Central China.

Methods: Genomic DNA was extracted from blood samples of 35 students with hearing loss. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to sequencing to identify sequence variations.

Results: Surprisingly, none of these probands harbored homozygous mutation in GJB2. Three GJB2 heterozygous mutations were identified: a single base pair substitution c.35G > 1 and c.139G > T, and a 2 bp deletion c.299-300delAT in three probands.

Conclusion: The frequency of GJB2 mutation is relatively low in these consanguineous families, most of which were minorities. Our results suggest that screening for responsible genes other than GJB2 may be necessary for NSHI in these minorities.