Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.

Background & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. The aim of this study was to develop a cost-effective, readily customizable and scalable molecular genetic testing strategy for LSDs. Methods: A testing method was designed based on the in-house creation of selective amplicons through long range PCR amplification for targeted capture and enrichment of different LSD genes of interest, followed by next generation sequencing of pooled samples. Results: In the first phase of the study, standardization and validation of the study protocol were done using 28 samples of affected probands and/or carrier parents (group A) with previously identified variants in seven genes, and in the second phase of the study, 30 samples of enzymatically confirmed or biopsy-proven patients with LSDs and/or their carrier parents who had not undergone any prior mutation analysis (group B) were tested and the sequence variants identified in them through the study method were validated by targeted Sanger sequencing. Interpretation & conclusions: This testing approach was found to be reliable, easily customizable and cost-effective for the molecular genetic evaluation of LSDs. The same strategy may be applicable, especially in resource poor settings, for developing cost-effective multigene panel tests for other conditions with genetic heterogeneity.

Effects of Dietary Medlar (Mespilus germanica L.) Extract on Growth Performance, Innate Immune Characteristics, Antioxidant Status, and Responses to Crowding Stress in Rainbow Trout (Oncorhynchus mykiss).

High stocking density is a stress factor that potentially affects physiological and immune responses. In this study, the effects of medlar (Mespilus germanica) extract (ME) supplementation on growth performance, antioxidant, immune status, and stress responses in rainbow trout (Oncorhynchus mykiss) were studied. Six hundred fish (40.19 ± 1.09 g; average fish weight ± standard error) were distributed randomly into five experimental groups (assayed in triplicates). The experimental diets were formulated as follows: 0 (T1, control), 0.5% (T2), 1% (T3), 1.5% (T4), and 2% (T4). After 60 days feeding trial, the fish were confined, and the density increased (60 kg/m3) for further 14 days. Results showed significant increases in final weight (FW), weight gain (WG), specific growth rate, and feed intake in the T4 compared to the control (P < 0.05). The feed conversion ratio (FCR) in T4 significantly decreased compared to the control (P < 0.05). Also, the treated groups showed significant improvements in catalase (CAT), superoxide dismutase (SOD), glutathione peroxidase (GPx), lysozyme (LYZ), total immunoglobulin (total Ig), respiratory burst activity (RBA), total protein, and phagocytosis (PHA) (P < 0.05). Moreover, compared with the control group, supplementation could significantly decrease glucose (GLU) and cortisol (CORT), alanine transaminase (ALT), lactate dehydrogenase (LDH), aspartate transaminase (AST), and alkaline phosphatase (ALP) (P < 0.05). After the challenge, FW and WG in all treated challenge groups were significantly improved compared to the control group (P < 0.05). FCR showed a significant decrease in all treated challenged groups compared to the control group (P < 0.05). However, malondialdehyde, CAT, GPx, SOD, LYZ, complement activity (C3 and C4), total Ig, RBA, peroxidase, and PHA in challenged treated groups were significantly increased compared to the control group (P < 0.05). All treated challenged groups showed lower ALT, LDH, AST, ALP, GLU, and CORT levels than the control group (P < 0.05). The experiment herein successfully demonstrated that dietary ME stimulated fish growth, antioxidant status, and immune responses in crowding conditions and can be recommended as beneficial feed additives for rainbow trout.

Development of a clinical risk score to predict death in patients with COVID-19.

OBJECTIVE: To build a clinical risk score to aid risk stratification among hospitalised COVID-19 patients. METHODS: The score was built using data of 417 consecutive COVID-19 in patients from Kuwait. Risk factors for COVID-19 mortality were identified by multivariate logistic regressions and assigned weighted points proportional to their beta coefficient values. A final score was obtained for each patient and tested against death to calculate an Receiver-operating characteristic curve. Youden's index was used to determine the cut-off value for death prediction risk. The score was internally validated using another COVID-19 Kuwaiti-patient cohort of 923 patients. External validation was carried out using 178 patients from the Italian CoViDiab cohort. RESULTS: Deceased COVID-19 patients more likely showed glucose levels of 7.0-11.1 mmol/L (34.4%, p < 0.0001) or >11.1 mmol/L (44.3%, p < 0.0001), and comorbidities such as diabetes and hypertension compared to those who survived (39.3% vs. 20.4% [p = 0.0027] and 45.9% vs. 26.6% [p = 0.0036], respectively). The risk factors for in-hospital mortality in the final model were gender, nationality, asthma, and glucose categories (<5.0, 5.5-6.9, 7.0-11.1, or 11.1 > mmol/L). A score of ≥5.5 points predicted death with 75% sensitivity and 86.3% specificity (area under the curve (AUC) 0.901). Internal validation resulted in an AUC of 0.826, and external validation showed an AUC of 0.687. CONCLUSION: This clinical risk score was built with easy-to-collect data and had good probability of predicting in-hospital death among COVID-19 patients.

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date 186 variations have been reported in ARSA gene worldwide, but the variation spectrum in India is not known. The aim of this study was to identify the variation profile in Indian patients presenting with features of Arylsulfatase A deficient metachromatic leukodystrophy. We sequenced the ARSA gene in 51 unrelated families and identified 36 variants out of which 16 were novel. The variations included 23 missense, 3 nonsense, and 6 frameshift variants (3 single-base deletions and 3 single-base duplications), 1 indel, one 3 bp deletion, and 2 splice site variations. The pathogenicity of the novel variations was inferred with the help of mutation prediction softwares like MutationTaster, SIFT, Polyphen-2, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein structure were studied using in silico methods. The most common variation was c.931 C > T(p.Arg311*), found in 11.4% (14 out of 122 alleles) of the tested individuals. To the best of our knowledge, this study is the first of its kind in India with respect to the size of the cohort and the molecular diagnostic method used and one of the largest cohorts of metachromatic leukodystrophy studied till date.

The Vitiligo Working Group recommendations for narrowband ultraviolet B light phototherapy treatment of vitiligo.

BACKGROUND: Treatment of vitiligo with narrowband ultraviolet B light (NBUVB) is an important component of the current standard of care. However, there are no consistent guidelines regarding the dosing and administration of NBUVB in vitiligo, reflected by varied treatment practices around the world. OBJECTIVE: To create phototherapy recommendations to facilitate clinical management and identify areas requiring future research. METHODS: The Vitiligo Working Group (VWG) Phototherapy Committee addressed 19 questions regarding the administration of phototherapy over 3 conference calls. Members of the Photomedicine Society and a group of phototherapy experts were surveyed regarding their phototherapy practices. RESULTS: Based on comparison and analysis of survey results, expert opinion, and discussion held during conference calls, expert recommendations for the administration of NBUVB phototherapy in vitiligo were created. LIMITATIONS: There were several areas that required further research before final recommendations could be made. In addition, no standardized methodology was used during literature review and to assess the strength of evidence during the development of these recommendations. CONCLUSION: This set of expert recommendations by the VWG is based on the prescribing practices of phototherapy experts from around the world to create a unified, broadly applicable set of recommendations on the use of NBUVB in vitiligo.

The impact of oral Polypodium leucotomos extract on ultraviolet B response: A human clinical study.

BACKGROUND: There is a rationale for adding systemic photoprotective agents to the current photoprotection regimen. OBJECTIVE: This study was designed to objectively evaluate the molecular and photobiologic effects of oral administration of Polypodium leucotomos extract (PLE). METHODS: In all, 22 subjects with Fitzpatrick skin phototype I to III were enrolled. On day 1, subjects were irradiated with visible light, ultraviolet (UV) A1, and UVB (using 308-nm excimer laser). Evaluation was done immediately and 24 hours after irradiation. On days 3 and 4, irradiation and evaluation process was repeated after ingestion of PLE. RESULTS: Clinical assessments and colorimetry data showed a decrease in UVB-induced changes in 17 of 22 subjects post-PLE administration; histology findings demonstrated such a decrease in all 22 subjects. LIMITATIONS: Only 2 doses of PLE were given. Furthermore, subjects with skin phototypes I to III only were studied. CONCLUSION: The results suggest that PLE can potentially be used as an adjunctive agent to lessen the negative photobiologic effects of UVB.

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 mutations have been reported in patients with ASM-deficient NPD world-wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients with ASM-deficient NPD. We sequenced SMPD1 in 60 unrelated families affected with ASM-deficient NPD. A total of 45 distinct pathogenic sequence variants were found, of which 14 were known and 31 were novel. The variants included 30 missense, 4 nonsense, and 9 frameshift (7 single base deletions and 2 single base insertions) mutations, 1 indel, and 1 intronic duplication. The pathogenicity of the novel mutations was inferred with the help of the mutation prediction software MutationTaster, SIFT, Polyphen-2, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein structure were studied using the structure modeled with the help of the SWISS-MODEL workspace program. The p. (Arg542*) (c.1624C>T) mutation was the most commonly identified mutation, found in 22% (26 out of 120) of the alleles tested, but haplotype analysis for this mutation did not identify a founder effect for the Indian population. To the best of our knowledge, this is the largest study on mutation analysis of patients with ASM-deficient Niemann-Pick disease reported in literature and also the first study on the SMPD1 gene mutation spectrum in India. © 2016 Wiley Periodicals, Inc.

Exploring the gaps in the evidence-based application of narrowband UVB for the treatment of vitiligo.

While narrowband ultraviolet light B (NB-UVB) has become integral to the treatment of diffuse vitiligo, evidence-based guidelines have been lacking with regard to dosing and administration. This is largely the result of heterogeneous study designs, ambiguous methodologies, disparate dosing strategies, and the use of varied, and somewhat arbitrary, outcome measures. In the absence of prospective trials to address each of these concerns, the available literature regarding the application of NB-UVB for vitiligo was reviewed and the authors now pose a set of questions to the phototherapy community in an attempt to highlight gaps within our understanding. We aim to stimulate discussion, elicit expert opinion, and identify areas for future research to move toward a unified and safe treatment guideline for patients afflicted by this disease.

Pancreatic fistulae after a pancreatico-duodenectomy: are pancreatico-gastrostomies safer than pancreatico-jejunostomies? An expertise-based trial and propensity-score adjusted analysis.

BACKGROUND: A pancreatic fistula (PF) is a major contributor to morbidity and mortality after a pancreaticoduodenectomy (PD). There remains debate as to whether re-establishing pancreaticoenteric continuity by a pancreatico-gastrostomy (PG) can decrease the risk of a PF and complications compared with a pancreatico-jejunostomy (PJ). The outcomes of patients undergoing these reconstructions after a PD were compared. METHOD: Patients undergoing a PD between 1999 and 2011 were selected from a prospective database and having undergone either a PG or PJ reconstruction. A propensity-score adjusted multivariate logistic regression was performed to identify the effect of surgical technique on outcomes of PF, delayed gastric emptying (DGE) and total complications. RESULTS: Twenty-three out of 103 and 20 out of 103 (P = 0.49) patients had PF and 74 out of 103 and 55 out of 103 patients had all-grades DGE in the PG and PJ groups, respectively (P = 0.02). The groups did not differ with regards to Clavien-Dindo grade of complications (P = 0.29) but did differ with regards to the Comprehensive Complication Index (CCI) (38.4 versus 31.4 for PG versus PG, respectively, P = 0.02.) Propensity-score adjusted multivariate analysis showed no effect of PG on PF (P = 0.89), DGE grades B/C (P = 0.9) or CCI (P = 0.41). There remained an effect on all-grades of DGE (P = 0.012.) DISCUSSION: Patients undergoing PG reconstruction had a similar rate of PF as those undergoing a PJ after a PD.

Mechanism and kinetic of piezo-catalytic desulfurization of model and actual fuel samples over CexOy/SrO nanocomposite at room temperature.

SOx emissions are primarily caused by compounds containing sulfur in petroleum and fuels, which lead to severe air pollution. For this reason, it is necessary to develop a fast and simple desulfurization method in order to comply with ever-increasing environmental regulations. The newly discovered piezo-catalyst nanocomposite CexOy/SrO can convert mechanical energy directly into chemical energy, thereby enabling mechanically oxidative sulfur desulfurization. 320 W of bath sonication were used to polarize and activate the prepared piezo-catalyst nanocomposite CexOy/SrO for sulfur removal from thiophene and dibenzothiophene as model fuels and kerosene as a real fuel. Using uniform and spherical CeO2/SrO nanocomposites resulted in the highest desulfurization rates of 95.4 %, 97.3 %, and 59.7 %, respectively, for thiophene and dibenzothiophene. This study examined the effect of several parameters, such as sulfur concentration, pH of fuel, dosage of CexOy/SrO nanocomposite, power and time of ultrasonic, and shaking time, on the piezo-desulfurization of thiophene (TP) and dibenzothiophene (DBTP). To identify the major active species in piezo desulfurization, radical trapping experiments were conducted. This study investigated the possibility of reusing the catalyst, and the piezo-desulfurization activity that was demonstrated in the removal of TP and DBTP after 11 cycles as well as the ability of the catalyst to remove real fuel even after 14 cycles was promising. As the kinetic results show, the reaction follows the second order with K = 0.0050. Also, thermodynamic results showed the oxidation of sulfide to sulfoxide and sulfoxide is endothermic. Activation energy for second order rate constant is (3.824 Kj/mole). 0.0236 mol-1. Sec-1 was calculated for Arrhenius Constant.

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

BACKGROUND: White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiologic spectrum of these disorders in the Asian Indian population. METHODS: This study was conducted over a period of five years from January 2016 to December 2020, in the medical genetics department of a tertiary care hospital in southern India. A total of 107 patients up to age 18 years, with a diagnosis of a genetic WM disorder confirmed by molecular genetic testing and/or metabolic testing, were included in the study and categorized into LD or GLE group as per the classification suggested by the Global Leukodystrophy Initiative consortium in 2015. RESULTS: Forty-one patients were diagnosed to have LDs, and 66 patients had GLEs. The two most common LDs were metachromatic LD (16 patients) and X-linked adrenoleukodystrophy (seven patients). In the GLE group, lysosomal storage disorders were the most common (40 patients) followed by mitochondrial disorders (nine patients), with other metabolic disorders and miscellaneous conditions making up the rest. The clinical presentations, neuroimaging findings, and mutation spectrum of the patients in our cohort are discussed. CONCLUSIONS: This is one of the largest cohorts of genetic WM disorders reported till date from the Asian Indian population. The etiologies and clinical presentations identified in our study cohort are similar to those found in other Indian studies as well as in studies based on other populations from different parts of the world.

Are Canadian general surgery residents ready for the 80-hour work week? A nationwide survey.

BACKGROUND: The purpose of this study was to describe Canadian general surgery residents' perceptions regarding potential implementation of work-hour restrictions. METHODS: An ethics review board-approved, Web-based survey was submitted to all Canadian general surgery residency programs between April and July 2009. Questions evaluated the perceived effects of an 80-hour work week on length of training, operative exposure, learning and lifestyle. We used the Fisher exact test to compare senior and junior residents' responses. RESULTS: Of 360 residents, 158 responded (70 seniors and 88 juniors). Among them, 79% reported working 75-100 hours per week. About 74% of seniors believed that limiting their work hours would decrease their operative exposure; 43% of juniors agreed (p < 0.001). Both seniors and juniors thought limiting their work hours would improve their lifestyle (86% v. 96%, p = 0.12). Overall, 60% of residents did not believe limiting work hours would extend the length of their training. Regarding 24-hour call, 60% of juniors thought it was hazardous to their health; 30% of seniors agreed (p = 0.001). Both senior and junior residents thought abolishing 24-hour call would decrease their operative exposure (84% v. 70%, p = 0.21). Overall, 31% of residents supported abolishing 24-hour call. About 47% of residents (41% seniors, 51%juniors, p = 0.26) agreed with the adoption of the 80-hour work week. CONCLUSION: There is a training-level based dichotomy of opinion among general surgery residents in Canada regarding the perceived effects of work hour restrictions. Both groups have voted against abolishing 24-hour call, and neither group strongly supports the implementation of the 80-hour work week.

Immunopathological Changes Post-Infection with Enterobacter cloacae in Rabbits.

Nosocomial infections have serious effects on health conditions in humans and animals. The present study aimed to investigate the pathogenesis of Enterobacter cloacae post intraperitoneal inoculation in rabbits to investigate the immunological and possible pathological effects. A total of 42 rabbits were randomly divided into two equal groups (n=21). The first group was inoculated with 3×108 CFU/ml of the virulent isolate of E. cloacae intraperitoneally (IP), while the second group was injected IP with phosphate buffer saline and considered a control negative group. The animals were sacrificed at different time post-infection at 48/72 h, and at day 7 post-bacterial inoculation. The results revealed a significant increase in the concentration of TNF-α, especially in the infected groups. In addition, there were different pathological lesions in different organs of animals, mainly in the infected groups, which represents by vascular congestion and edema with polymorphoneutrophiles infiltration in the lungs, kidneys, and heart. This study is considered the first trial which aimed to observe the pathological changes of E. cloacae in vital organs in rabbits.

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.

BACKGROUND Annular epidermolytic ichthyosis is a rare form of epidermolytic ichthyosis caused by specific pathogenic variants of KRT1 and KRT10. Classically, it manifests at birth with variable degrees of erythroderma and superficial erosions, which subsequently improve with time. Later, it is characterized by a cyclic history of annular hyperkeratotic erythematous plaques over the trunk and proximal extremities, with or without palmoplantar keratoderma. Greither syndrome, another autosomal dominant disorder of KRT1 mutation, is demonstrated by the diffuse, thick, scaly yellow PPK with transgrediens and erythematous border extending up to the Achilles' tendon, patchy hyperkeratotic plaques over the knees, shins, thighs, elbows, knuckles, and axillary folds. We describe a patient with clinical findings consistent with annular epidermolytic ichthyosis mimicking Greither disease with a likely associated pathogenic variant of KRT1. CASE REPORT A 3-year-old Saudi girl presented with a diffuse palmoplantar keratoderma (PPK) extending to the dorsal aspects of the hands and feet up to the Achilles' tendon, first noticed at the age of 3 months, with a history of recurrent coin-shaped erythematous crusted erosions over the trunk, which were spontaneously healed over time, and an associated history of hyperhidrosis. Patchy hyperkeratotic plaques were noticed upon further examination over the bilateral elbows, axillary folds, and oral commissures. CONCLUSIONS The phenotype of our patient is consistent with the clinical features described for AEI, making the new K1 variant a likely pathogenic variant. When K1 mutation is the causative variant of the disease expression, phenotypically, it can present with Greither-like PPK.

Fostering EFL learners' motivation, anxiety, and self-efficacy through computer-assisted language learning- and mobile-assisted language learning-based instructions.

In the literature, a mass of studies have inspected the effects of computer-assisted language learning (CALL) and mobile-assisted language learning (MALL) on Iranian English as a Foreign Language (EFL) learners' achievement. However, the effects of CALL and MALL on psychological factors, such as motivation, anxiety, and self-efficacy, have largely remained unexplored. Thus, this study explored the effects of CALL and MALL, and face-to-face (FTF) learning environments on Iranian EFL learners' motivation, anxiety, and self-efficacy. To this aim, using a random sampling method, a total of 137 male EFL intermediate learners were selected and homogenized using the Oxford Quick Placement Test (OQPT). Based on the test scores, a total of 90 EFL learners were selected and randomly assigned to three groups, namely, CALL (n = 30), MALL (n = 30), and FTF (n = 30). Then, the participants' motivation, anxiety, and self-efficacy were gauged prior to the instructions. Afterward, they received CALL-based, MALL-based, and conventional instructions which lasted 25 1-h sessions held twice a week. At the end of the instructions, the participants' motivation, anxiety, and self-efficacy were measured again. The collected data were analyzed through a one-way MANOVA. Findings evidenced that the experimental groups' motivation, anxiety, and self-efficacy were positively affected by the CALL-based and MALL-based instructions. However, there was not a statistically significant difference between the CALL group and MALL group concerning the gains of motivation, anxiety, and self-efficacy. In light of the findings, a range of implications is suggested for relevant stakeholders.

Study of Antibacterial Chemical Substances and Molecular Investigation among Sulfamethoxazole-trimethoprim (SXT)-Resistant Escherichia coli Isolates.

Background: Escherichia coli (E. coli) remains one of the leading agents of urinary tract infection (UTIs), it has become resistant to many drugs. Current work aimed to evaluate some chemical substances as antibacterial agents and molecular study of virulence factors associated with UTIs. Methods: This work involved 133 urine specimens obtained from females' patients suffering from UTIs, Methods of well diffusion and disk diffusion were achieved to assay the effect of some chemical substances and antibiogram profiles toward Sulfamethoxazole-trimethoprim (SXT)-resistant E. coli respectively. Virulence genes were done based on the technique of Polymerase Chain Reaction (PCR). Results: The results recorded 49/133 (36.84%) E. coli among women suffering UTIs, 28/49 (57.14%) were resistant to SXT drug. imipenem, meropenem, and nitrofurantoin were recorded more effectively. Chemicals substances at the concentration 0.3 (g/ml) recorded percentages of inhibition, reaching 9.143±1.442, 15.36±0.5914, and 21.82±0.8699 for NaHCO3, Ch4c, and Viroxide Super™ respectively. PCR demonstrated that 28/28 (100%) of SXT-resistant E. coli isolates were harbored Sul-2, FeoB and PapC genes, while 14/28 (50%), 15/28 (53.57%), 19/28 (67.85%) and 26/28 (92.85%) in U250 (pet), FumC, Sul-1 and IutA genes, respectively. Sul-3 gene was not observed. Conclusion: Observed a high percentage of E. coli that were resistant to SXT drug, and having several virulence genes, poses a real threat, it requires a real pause to create substitutions to limit the spreading of this threat.

Endoscopic Reconstruction of Skull Base Defects Using Tutoplast.

BACKGROUND: Various graft materials that are classified as autografts, xenografts, and allografts based on their origin have been used to endoscopically repair skull base defects. Tutoplast® (Tutogen Medical GmbH), an allogeneic natural collagen matrix, is processed through chemical sterilization that preserves tissue biocompatibility and structural integrity. OBJECTIVE: To study the safety and efficacy of Tutoplast Fascia Lata and Tutoplast Temporalis Fascia® as primary graft materials in the endoscopic reconstruction of skull base defects of different sizes and etiologies and to compare the outcomes with those of other traditional graft materials based on our experience. METHODS: This is a multi-center retrospective chart review of patients who underwent cerebrospinal fluid leak (CSF) endoscopic reconstruction with Tutoplast Fascia Lata or Tutoplast Temporalis Fascia as either a stand-alone reconstruction material or a part of a multilayer reconstruction depending on the defect at Prince Sultan Military Medical City and King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia, between 2017 and 2020. Our inclusion criteria were CSF leak repair with Tutoplast and a transnasal endoscopic approach. We reviewed demographic data, intraoperative and postoperative complications, repair materials, repair failure, defect size and location. RESULTS: Tutoplast® was used as the primary graft material in 33 cases. Our main outcome was repair success with lack of post operative CSF leak, observed in 30 cases (90.9%). There was no significant association between postoperative CSF leaks and factors including different defect sizes, defect sites, demographic data, hospitalization duration, or postoperative radiation in oncological cases. CONCLUSION: Tutoplast alone or in combination with other materials can be used safely and effectively for skull base defects repair.

Association of Interleukin-10 gene promoter polymorphisms in Saudi patients with vitiligo.

The promoter region of human Interleukin -10 gene is highly polymorphic and has been associated with numerous autoimmune diseases. Recent studies have linked vitiligo with defective autoimmune system. This study is aimed to explore a possible association between IL-10 gene polymorphism and vitiligo in Saudi population. This case control study consisted of 184 Saudi subjects including 83 vitiligo patients (40 males, 43 females mean age 27.85 +/- 12.43 years) and 101 matched controls. Genomic DNA was extracted from the blood samples of healthy controls and Vitiligo patients visiting out patient clinic of Department of Dermatology, Riyadh Armed Forces Hospital, using QIA ampR DNA mini kit (Qiagen CA, USA). Interleukin-10 gene was amplified by polymerase chain reaction (PCR) using Arms primers to detect any polymorphism involved at positions -592, -819 and -1082. The frequencies of GG genotype at -1082, and CC genotype at positions -592 and 819 were significantly higher in vitiligo patients compared to healthy subjects suggesting that GG and CC genotypes might be susceptible to vitiligo in Saudis. On the other hand genotypes -1082 GA, -819 CT, and -592 CA of IL-10 were more prevalent in healthy controls suggesting protective effects of GA, CT and CA genotypes against vitiligo. This study indicates that the IL-10 gene may play a significant role in the etiology of vitiligo among Saudis.

Myxoma of the kidney - an unusual benign renal tumor: a case report.

BACKGROUND: Myxomas are rare benign soft tissue tumors. The kidney is an unusual location for this tumor. For this reason, less than 15 cases of renal myxoma have been reported in the English literature. There are no specific clinical and radiological features reported for this tumor that allow a preoperative diagnosis enabling a conservative treatment. CASE PRESENTATION: We report another case of renal myxoma found in a 50-year-old Moroccan woman who presented with a right dull flank pain. An abdominal computed tomography scan objectified a suspected malignant renal mass. Thus, radical nephrectomy was performed. Histopathology of the specimen revealed the typical appearance of a myxoma. CONCLUSIONS: The objective of this report is to add another case report of this rare benign renal tumor to the literature. This benign tumor with excellent prognosis has no specific preoperative features that could justify a conservative management; a radical approach remains the therapeutic option for now.