347 research outputs found

    Sacrococcygeal teratoma: 10-year experience in upper Egypt

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    Purpose To evaluate our experience with 45 patients with sacrococcygeal teratoma (SCT) in our community (upper Egypt) over a period of 10 years between 2001 and 2011 and determine the outcome of the management and recommendations for treatment strategies.Patients and methods A retrospective study was conducted at our Pediatric Surgical Unit, Assiut University Hospital. The medical records were reviewed for age at presentation, clinical manifestations and investigations, time of surgical approach, histopathology, recurrences, bladder and anorectal function, and cosmetic outcome.Results Forty-five patients with SCT were referred to the Pediatric Surgical Unit. The time of referral was as follows: immediately after birth in the case of five patients; during the first week for 17 patients (four of them died before surgery because of hemodynamic instability and other associated congenital anomalies and were excluded from the study); later in infancy for 22 patients; and at one and half years of age for one child. The lesion was excised in the case of 41 patients. Teratomas were of type I (n =9), type II (n = 20), type III (n= 11), and type IV (n =1) (Altman’s classification). The age of patients at surgery ranged from 2 days to 1.5 years. Histological analysis of results revealed mature teratoma (n =27), immature teratoma (n =9), and malignant teratoma (n= 5). The coccyx was not removed in two cases during the early period of the study. The follow-up period ranged from 3 months to 10 years. Recurrence occurred in five (12%) cases, wound infection in four (9.7%), and diarrhea in two (4.8%) cases. The a-fetoprotein level was high in 35 cases and was normal in two patients; it decreased after excision. Fetal diagnosis was made in five cases by means of a prenatal sonographic scan.Conclusion Prenatal diagnosis of SCT is very important and it is recommended to save the baby from obstructed labor. Early diagnosis allows early surgical intervention and avoids malignant transformation. The coccyx should be excised to decrease the risk of recurrence. Skin flap modification is feasible for large teratomas with healthy skin. Keywords: infants, neonates, sacrococcygeal teratom

    Transcolostomy-site endorectal pullthrough for Hirschsprung’s disease

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    Purpose To present our results for an endorectal pullthrough operation as the second stage for the treatment of Hirschsprung’s disease through the colostomy site.Materials and methods This study included 13 patients, four girls and nine boys. Their ages ranged from 9 months to 7 years. They presented with a leveling colostomy with a diagnosis of Hirschsprung’s disease. The colostomy was carried out in the neonatal period because of neonatal intestinal obstruction in three patients (one female and two males), in two patients because of recurrent attacks of enterocolitis, and three patients because of the inability of the patient to withstand major surgery. Four patients presented without a clear history of the cause for the colostomy. One patient aged 7 years presented with sigmoid volvulus. All the patients were subjected to a transcolostomy endorectal pullthrough.Results The operation was completed as described in all patients. The time from colostomy to pullthrough ranged from 3 to 7 months (median 4.7 months). The operation time ranged from 95 to 140 min (median 113 min). All the patients passed stool within 24–48 h. Stool output ranged from two to six stools per day. Optimal wound healing occurred in all patients without wound complications. Postoperative perineal excoriation occurred in four patients. A urinary tract infection developed in one patient. A patient with a history of recurrent attacks of preoperative enterocolitis developed mild enterocolitis 2 weeks after the operation. Adhesive intestinal obstruction occurred in one patient. Recurrence of symptoms occurred in two patients because of stricture at the anastomotic site, one responded to repeated dilatation and the other required internal sphincterotomy.Conclusion Transcolostomy endorectal pullthrough has the following advantages: it is associated with less pain and a shorter hospitalization than the classic endorectal pullthrough. Wound complications are rare. The cosmetic result is better than the classic Soave operation. It has no specific technique-related complications. Long-term outcome and functional results are good. To our knowledge, this approach has not been described before. Keywords: Hirschsprung’s disease, leveling colostomy, pullthroug

    Safety and immunogenicity of an autoclaved Leishmania major vaccine

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    Objective: To test the safety and immunogenicity of two doses of autoclaved L.major (ALM) vaccine mixed with BCG.Setting: Kala-azar endemic area of eastern Sudan.Design: This was a randomised, double blind and BCG controlled phase I/II study.Subjects: Eighty healthy volunteers (forty children and forty adults) with no past history of kala-azar, no reactivity to leishmanin antigen and with a reciprocal direct agglutination test (DAT) titre o

    Giant cervicothoracic extradural arachnoid cyst: case report

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    The pathogenesis, etiology, and treatment of the spinal arachnoid cyst have not been well established because of its rarity. A 57-year-old male was presented with spastic quadriparesis predominantly on the left side. His radiological examination showed widening of the cervical spinal canal and left neural foramina due to a cerebrospinal fluid - filled extradural cyst that extended from C2 to T2 level. The cyst was located left anterolaterally, compressing the spinal cord. Through a C4–T2 laminotomy, the cyst was excised totally and the dural defect was repaired. Several features of the reported case, such as cyst size, location, and clinical features make it extremely unusual. The case is discussed in light of the relevant literature

    Characterization of globulin storage proteins of a low prolamin cereal species in relation to celiac disease

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    Brachypodium distachyon, a small annual grass with seed storage globulins as primary protein reserves was used in our study to analyse the toxic nature of non-prolamin seed storage proteins related to celiac disease. The main storage proteins of B. distachyon are the 7S globulin type proteins and the 11S, 12S seed storage globulins similar to oat and rice. Immunoblot analyses using serum samples from celiac disease patients were carried out followed by the identification of immune-responsive proteins using mass spectrometry. Serum samples from celiac patients on a gluten-free diet, from patients with Crohn's disease and healthy subjects, were used as controls. The identified proteins with intense serum-IgA reactivity belong to the 7S and 11-12S seed globulin family. Structure prediction and epitope predictions analyses confirmed the presence of celiac disease-related linear B cell epitope homologs and the presence of peptide regions with strong HLA-DQ8 and DQ2 binding capabilities. These results highlight that both MHC-II presentation and B cell response may be developed not only to prolamins but also to seed storage globulins. This is the first study of the non-prolamin type seed storage proteins of Brachypodium from the aspect of the celiac disease

    Association of Common Variants in TNFRSF13B, TNFSF13, and ANXA3 with Serum Levels of Non-Albumin Protein and Immunoglobulin Isotypes in Japanese

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    We performed a genome-wide association study (GWAS) on levels of serum total protein (TP), albumin (ALB), and non-albumin protein (NAP). We analyzed SNPs on autosomal chromosomes using data from 9,103 Japanese individuals, followed by a replication study of 1,600 additional individuals. We confirmed the previously- reported association of GCKR on chromosome 2p23.3 with serum ALB (rs1260326, Pmeta = 3.1×10−9), and additionally identified the significant genome-wide association of rs4985726 in TNFRSF13B on 17p11.2 with both TP and NAP (Pmeta = 1.2×10−14 and 7.1×10−24, respectively). For NAP, rs3803800 and rs11552708 in TNFSF13 on 17p13.1 (Pmeta = 7.2×10−15 and 7.5×10−10, respectively) as well as rs10007186 on 4q21.2 near ANXA3 (Pmeta = 1.3×10−9) also indicated significant associations. Interestingly, TNFRSF13B and TNFSF13 encode a tumor necrosis factor (TNF) receptor and its ligand, which together constitute an important receptor-ligand axis for B-cell homeostasis and immunoglobulin production. Furthermore, three SNPs, rs4985726, rs3803800, and rs11552708 in TNFRSF13B and TNFSF13, were indicated to be associated with serum levels of IgG (P<2.3×10−3) and IgM (P<0.018), while rs3803800 and rs11552708 were associated with IgA (P<0.013). Rs10007186 in 4q21.2 was associated with serum levels of IgA (P = 0.036), IgM (P = 0.019), and IgE (P = 4.9×10−4). Our results should add interesting knowledge about the regulation of major serum components

    Measurement of the top quark mass using the matrix element technique in dilepton final states

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    We present a measurement of the top quark mass in pp¯ collisions at a center-of-mass energy of 1.96 TeV at the Fermilab Tevatron collider. The data were collected by the D0 experiment corresponding to an integrated luminosity of 9.7  fb−1. The matrix element technique is applied to tt¯ events in the final state containing leptons (electrons or muons) with high transverse momenta and at least two jets. The calibration of the jet energy scale determined in the lepton+jets final state of tt¯ decays is applied to jet energies. This correction provides a substantial reduction in systematic uncertainties. We obtain a top quark mass of mt=173.93±1.84  GeV

    The Making of a Queen: TOR Pathway Is a Key Player in Diphenic Caste Development

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    Honey bees (Apis mellifera) provide a principal example of diphenic development. Excess feeding of female larvae results in queens (large reproductives). Moderate diet yields workers (small helpers). The signaling pathway that links provisioning to female developmental fate is not understood, yet we reasoned that it could include TOR (target of rapamycin), a nutrient- and energy-sensing kinase that controls organismal growth.Here, the role of Apis mellifera TOR (amTOR) in caste determination is examined by rapamycin/FK506 pharmacology and RNA interference (RNAi) gene knockdown. We show that in queen-destined larvae, the TOR inhibitor rapamycin induces the development of worker characters that are blocked by the antagonist FK506. Further, queen fate is associated with elevated activity of the Apis mellifera TOR encoding gene, amTOR, and amTOR gene knockdown blocks queen fate and results in individuals with worker morphology.A much-studied insect dimorphism, thereby, can be governed by the TOR pathway. Our results present the first evidence for a role of TOR in diphenic development, and suggest that adoption of this ancestral nutrient-sensing cascade is one evolutionary pathway for morphological caste differentiation in social insects

    A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug-metabolizing enzymes

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    BACKGROUND: N-acetyltransferases (NAT) and glutathione S-transferases (GST) are involved in the metabolism of several ubiquitous chemical substances leading to the activation and detoxification of carcinogenic heterocyclic and aromatic amines. Since polymorphisms within these genes are described to influence the metabolism of ubiquitous chemicals, we conducted the present study to determine if individuals with self-reported chemical-related sensitivity differed from controls without self-reported chemical-related sensitivity with regard to the distribution of genotype frequencies of NAT2, GSTM1, GSTT1, and GSTP1 polymorphisms. METHODS: Out of 800 subjects who answered a questionnaire of ten items with regard to their severity of chemical sensitivity 521 unrelated individuals agreed to participate in the study. Subsequently, genetic variants of the NAT2, GSTM1, GSTT1, and GSTP1 genes were analyzed. RESULTS: The results show significant differences between individuals with and without self-reported chemical-related sensitivity with regard to the distribution of NAT2, GSTM1, and GSTT1 gene variants. Cases with self-reported chemical-related sensitivity were significantly more frequently NAT2 slow acetylators (controlled OR = 1.81, 95% CI = 1.27–2.59, P = 0.001). GSTM1 and GSTT1 genes were significantly more often homozygously deleted in those individuals reporting sensitivity to chemicals compared to controls (GSTM1: controlled OR 2.08, 95% CI = 1.46–2.96, P = 0.0001; GSTT1: controlled OR = 2.80, 95% CI = 1.65–4.75, P = 0.0001). Effects for GSTP1 gene variants were observed in conjunction with GSTM1, GSTT1 and NAT2 gene. CONCLUSION: The results from our study population show that individuals being slow acetylators and/or harbouring a homozygous GSTM1 and/or GSTT1 deletion reported chemical-related hypersensitivity more frequently

    The links between health-related behaviors and life satisfaction in elderly individuals who prefer institutional living

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    BACKGROUND: Life satisfaction among residents of institutions is becoming an important issue in a rapidly aging population. The aim of this cross-sectional study was to investigate the links between life satisfaction and health-related behaviors amongst functionally independent elderly people who prefer institutional living in İstanbul, Turkey. METHODS: The socio-demographic characteristics, health-related behaviors, leisure-time activities and fall histories of 133 residents of an institution in Istanbul were assessed by a structured questionnaire during face-to-face interviews. A validated life-satisfaction index questionnaire (LSI-A) was completed. RESULTS: The mean age of the study group was 73.9 ± 8.0 (range 60–90 years). Within the group, 22.6% had never married and 14.3% had university degrees. The majority (71.4%) were in the low income bracket. The overall mean LSI-A score was 20.3 ± 5.9. Participants who declared moderate/high income levels had a significantly higher mean LSI-A score than those in the low-income bracket (p = 0.009). Multivariate analysis of the data suggested that leisure-time activities and participation in regular physical activities are significant predictors of LSI-A scores (R(2): 0.112; p = 0.005 and p = 0.02, respectively). CONCLUSION: The findings imply that regular physical activity and leisure-time activities are significantly related to life satisfaction among residents in institutions. Participation in physical activity and leisure-time activity programs may help to improve the life satisfaction of elderly people living in institutions
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