Feasibility of repair of distal penile hypospadias as a day-case surgery

Objective The aim of this study was to present the outcomes of children with distal hypospadias who were operated on outpatient basis.Methods Atotal of 47 consecutive children underwent surgical repair of distal hypospadias in our department. Urethroplasties were performed by the following techniques: stentless meatal advancement-glanuloplasty (MAGPI) or glans approximation procedure (GAP) for glanular hypospadias (14) and tubularized incised plate (TIP) urethroplasty for coronal, subcoronal and midpenil hypospadias with an indwelling urethral catheter or short stent (33). The indwelling urinary catheters were managed by the double diaper technique. Patients were discharged within 6 h after operation. Dressings and catheters were removed on the postoperative day 2 and 6, respectively.Results Voiding difficulty and urinary retention on early postoperative period were observed in 8 patients. Except meatal stenosis in 4 cases and meatal retractions in 2 cases, there were no major complications in any of our patients during the follow-up period, no postoperative fistula or urethral stricture.Conclusion In children, repair of distal penile hypospadias on outpatient basis is feasible. Catheters, urethral stents, drug therapy and dressing are not justifications for hospitalization in such cases.Keywords: hospital stay, hypospadias, outpatient, urethroplasty, wounddressin

Lattice distortions in a sawtooth chain with Heisenberg and Ising bonds

An exactly solvable model of the sawtooth chain with Ising and Heisenberg bonds and with coupling to lattice distortion for Heisenberg bonds is considered in the magnetic field. Using the direct transfer-matrix formalism an exact description of the thermodynamic functions is obtained. The ground state phase diagrams for all regions of parameters values containing phases corresponding to the magnetization plateaus at $M=0,1/4$ and 1/2 have been obtained. Exact formulas for bond distortions for various ground states are presented. A novel mechanism of magnetization plateau stabilization corresponding to $M=1/4$ state is reported.Comment: 16 pages, 12 figure

Parallel atomic force microscopy with optical interferometric detection

Cataloged from PDF version of article.We have developed an atomic force microscope that uses interferometry for parallel readout of a cantilever array. Each cantilever contains a phase sensitive diffraction grating consisting of a reference and movable set of interdigitated fingers. As a force is applied to the tip, the movable set is displaced and the intensity of the diffracted orders is altered. The order intensity from each cantilever is measured with a custom array of siliconphotodiodes with integrated complementary metal–oxide–semiconductor amplifiers. We present images from five cantilevers acquired in the constant height mode that reveal surface features 2 nm in height. The interdigital method for cantilever array readout is scalable, provides angstrom resolution, and is potentially simpler to implement than other methods. © 2001 American Institute of Physic

Water recovery with combined membrane system in textile industry, treatment and management of concentrates by hybrid advanced oxidation/membrane filtration

In this study, in addition to textile wastewater treatment by UF/NFtight/TO membrane combination of which efficiency is known, management has been performed for membrane concentrates generated with advanced oxidation combined process (Fenton and photo-Fenton (UVA-365-UVC-254))/submerged UF system of membrane concentrates generated within 75-80% water recovery ratio by oxidizing them in optimum operating conditions which were determined before. Ultimately in the studies, the conclusion has been reached that concentrate flows, generated as a result of the treatment with UF/NFtight/TO membrane configuration, were the highest performance innovative process by decreasing the sequential operated photo-Fenton (UVC-254)/UH050 hybrid process in ratios of 9.88 H2O2/TOK and 7.27 H2O2/Fe2+, in the filtration flux of 44 L/m(2). h, COD value to 167 mg/L with 86% COD removal, and TOK value to 104 mg/L with 74.2% TOC removal, after the oxidation with Fenton, photo-Fenton (UVA-365) and (UVC-254)/submerged UF system processes. When hazardous characteristics, removal/recovery methods and reuse alternatives of the concentrate remained after the oxidation of membrane concentrates generated were evaluated, it has been seen that all other concentrates of textile industry wastewater, except the concentrate generated by the treatment with photo-Fenton (UVA-365), had characteristics of hazardousness When removal/recovery methods were evaluated in detail, the conclusion has been reached that these concentrates could be removed with alternative options such as regular storage, burning and canalizing to central wastewater treatment system as long as necessary arrangements (moisture content, dehydration, suitable flow and/or mixture ratios) are made

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.info:eu-repo/semantics/publishedVersio

Patients with primary immunodeficiencies are a reservoir of poliovirus and a risk to polio eradication

ABSTARCT: Immunodeficiency-associated vaccine-derived polioviruses (iVDPVs) have been isolated from primary immunodeficiency (PID) patients exposed to oral poliovirus vaccine (OPV). Patients may excrete poliovirus strains for months or years; the excreted viruses are frequently highly divergent from the parental OPV and have been shown to be as neurovirulent as wild virus. Thus, these patients represent a potential reservoir for transmission of neurovirulent polioviruses in the post-eradication era. In support of WHO recommendations to better estimate the prevalence of poliovirus excreters among PIDs and characterize genetic evolution of these strains, 635 patients including 570 with primary antibody deficiencies and 65 combined immunodeficiencies were studied from 13 OPV-using countries. Two stool samples were collected over 4 days, tested for enterovirus, and the poliovirus positive samples were sequenced. Thirteen patients (2%) excreted polioviruses, most for less than 2 months following identification of infection. Five (0.8%) were classified as iVDPVs (only in combined immunodeficiencies and mostly poliovirus serotype 2). Non-polio enteroviruses were detected in 30 patients (4.7%). Patients with combined immunodeficiencies had increased risk of delayed poliovirus clearance compared to primary antibody deficiencies. Usually, iVDPV was detected in subjects with combined immunodeficiencies in a short period of time after OPV exposure, most for less than 6 months. Surveillance for poliovirus excretion among PID patients should be reinforced until polio eradication is certified and the use of OPV is stopped. Survival rates among PID patients are improving in lower and middle income countries, and iVDPV excreters are identified more frequently. Antivirals or enhanced immunotherapies presently in development represent the only potential means to manage the treatment of prolonged excreters and the risk they present to the polio endgame. Keywords: Poliovirus eradication, Immunodeficiency-associated vaccine-derived polioviruses, Oral poliovirus vaccine, Humoral immunodeficiency, Combined immunodeficiency, Primary immunodeficienc

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies : an international multicenter retrospective study

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods: Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results: We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n 5 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term.disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen

Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency

BACKGROUND: While autoimmunity and hyperinflammation secondary to recombinase activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. The majority of patients (55.6%) presented with more than one autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP) and autoimmune neutropenia (AN), respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in the majority of cases (64.7%, 73.7%, and 71.4% for AIHA, ITP, and AN, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multi-lineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management