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Objectives: Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great phenotypic heterogeneity. Neurological manifestations are thought to occur in about one third of cases, but systematic studies are not available. We performed deep neurological phenotyping of 10 patients in one ODDD pedigree., Methods: Retrospective case series. We analyzed in depth the neurological phenotype of a three-generation family segregating the heterozygous c.416 T > C, p.(Ile139Thr) in GJA1. Clinical and neuroradiological features were retrospectively evaluated. Brain MRI and visual evoked potentials were performed in 8 and 6 cases, respectively., Results: Central nervous system manifestations occurred in 5 patients, the most common being isolated ataxia either in isolation or combined with spasticity. Furthermore, sphincteric disturbances (neurogenic bladder and fecal incontinence) were recognized as the first manifestation in most of the patients. Subclinical electrophysiological alteration of the optic pathway occurred in all the examined patients. Neuroimaging was significant for supratentorial hypomyelination pattern and hyperintense superior cerebellar peduncle in all examined patients., Conclusion: The neurological involvement in ODDD carriers is often missed but peculiar clinical and radiological patterns can be recognized. Deep neurological phenotyping is needed to help untangle ODDD syndrome complexity and find genotype-phenotype correlations., (© 2024. Fondazione Società Italiana di Neurologia.)

Italy and France are historically among the countries that produce the most prestigious wines worldwide. In Europe, these two countries together produce more than half of the wines classified under the Protected Designation of Origin (PDO) label, the strictest quality mark of food and wines in the European Union. Due to their long tradition in wine protection, Italy and France include highly detailed specifications in their wine PDO regulatory documents that are usually not available for other countries, such as specific information about the main cultivars that must be used to make each wine or the required planting density in the vineyards. However, this information is scattered throughout the documents of each wine production area and has never been extracted and homogenised in a unique dataset. Here, we present the first dataset that characterizes the PDO wines produced in Italy and France at very high detail based on the information from the official EU geographical indication register. For each country it includes a standardized list of the PDO wine names, linked with their specific requirements, such as the wine colour, type, cultivars used and maximum allowed yields. The unprecedented level of detail of this dataset allows for the first time the analysis of more than 5000 traditional wines and their legal and agronomic specifications. This gives insights into the interplay between the European Union quality regulation policy, the wine sector, and agronomic practices, enabling researchers and practitioners to analyze wine production in the context of specific regulations or economic scenarios., (© 2024 The Authors. Published by Elsevier Inc.)

Psychosocial stressors have been suggested to precipitate psychotic episodes in patients with pre-existing psychosis and otherwise healthy subjects. However, such a risk has never been formally investigated in individuals with autism spectrum disorder (ASD). Sixty-nine autistic adolescents hospitalized for psychotic/manic symptoms (PSY) and other mental health issues (NPSY) over a 9-year period were compared with reference to their previous exposure to psychosocial stressors. ASD diagnoses satisfied the International Classification of Diseases (ICD)-10 criteria. Psychotic/manic symptom assessment followed the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS). Psychosocial stressor exposure was collected separately at each admission. Preliminarily, univariate between-group comparisons were conducted. Then, a binomial model was adopted to investigate associations with previous exposure to psychosocial stressors. Results were reported with a change in AIC (ΔAIC). PSY patients presented with higher previous exposure to adverse life events (30.43% vs. 6.52%, OR = 6.079 [1.209, 40.926], p = 0.013) and school/work difficulties (30.43% vs. 8.70%, OR = 4.478 [0.984, 23.846], p = 0.034) than NPSY ones. Admissions for psychotic/manic symptoms occurred more likely in the context of family disturbances (OR = 2.275 [1.045, 5.045], p = 0.030) and adverse life events (OR = 3.489 [1.194, 11.161], p = 0.014). The fitted binomial model was found to be significant compared to the random effects model (ΔAIC = -1.962; χ 2 10  = 21.96, p = 0.015), with the risk of presenting psychotic/manic symptoms being increased by family disturbances (z = +4.118) and school/work difficulties (z = +2.455). The results suggest a potential psychosis-inducing effect of psychosocial stressors in ASD, which has clinical and policy implications., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

The Wine Protected Designation of Origin (PDO) label is a European quality scheme that protects high quality wines by linking them to legally defined geographic areas and a set of specific production practices. Because of the tight relation between PDO wines and the specifications defined in the official regulatory documents, these products are highly susceptible to changes in climatic, environmental, or socioeconomic conditions. However, the content of these regulatory documents has never been systematically analysed and summarized in a single dataset. Here, we present the first geospatial inventory that organizes regulatory information about the 1177 wine PDO in Europe based on the documents from the official EU geographical indication register. It includes essential legal information that defines the wine PDO such as the geographic boundaries, authorized cultivars and maximum yields. This inventory opens new possibilities for researchers to accurately assess, compare and map the regulatory information in each wine region at an unprecedented level of detail, supporting decision makers in developing adaptation strategies for the preservation of PDO wine regions., (© 2022. The Author(s).)

This study aimed to evaluate the influence of two different feeding modes on wastewater treatment performance and oxygen consumption rate (OCR) of the unsaturated (UVF wetland) and partially saturated (SVF wetland) vertical flow constructed wetlands operated in parallel under subtropical climate for four years. Each wetland had a superficial area of 7.5 m 2 and was planted with Typha domingensis. Both units have a filter media depth of 0.75 m, composed by sand (effective diameter of 0.29 mm and uniformity of 4). UVF wetland operated typically unsaturated, while SVF wetland had the bottom part saturated (57% of total depth). Two feeding modes were evaluated for both wetlands. The feeding mode was operated within the limits recommended by the German standard, with a hydraulic loading rate (HLR) of 75 mm d -1 and specific pulse volume (SPV) of 19 L m -2 for both wetlands and a specific hydraulic loading rate (SHLR) of 8 and 9 L m -2  min -1 for UVF and SVF wetlands, respectively. Meanwhile, the second feeding mode was applied for both wetlands, being an HLR of 103 mm d -1 , 26 L m -2 of SPV, and 4 L m -2  min -1 of SHLR. The load removal efficiency of SVF wetland was higher than the UVF wetland for all parameters and feeding modes. No statistical difference was identified for OCR values between wetlands and feeding mode. The results showed that operating UVF and SVF wetlands with a SHLR around 4 L m -2  min -1 and SPV equal of 26 L m -2 is preferable. This fact could represent a significant reduction in inlet pumping power requirements and also less superficial area requirements., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Background: The patients' request for treatment with clear aligners is constantly increasing. The aligners permit to the clinicians a valid way to solve a lot of orthodontic cases but the patients' compliance and the clinicians' capabilities and knowledge of the technique is fundamental for the outcome., Methods: Seventy-two digital models of 18 consecutive patients treated with Invisalign and Smart Track aligners for 14 weeks were analyzed. The operator positioned 24 points on each model and were obtained the values of arch depth and perimeter of arch before and after the treatment. The variations of measurement were calculated with t student test., Results: A decrease of arch depth and perimeter was found from t0 to t1 and the most relevant difference was observed in the upper arch depth with a decrease of 1.3 mm and in the upper arch perimeter with a difference of 1.1 mm., Conclusions: There was always a decrease of the values of arch depth and arch perimeter at the end of the treatment, especially in the upper arch. These changes must be considered by the clinicians to perform a better treatment to obtain the most predictable results and a patient's higher satisfaction.

Aim of the Study: The European Society of Breast Cancer Specialists (EUSOMA) has fostered a voluntary certification process for breast centres to establish minimum standards and ensure specialist multidisciplinary care. Prospectively collected anonymous information on primary breast cancer cases diagnosed and treated in the units is transferred annually to a central EUSOMA data warehouse for continuous monitoring of quality indicators (QIs) to improve quality of care. Units have to comply with the EUSOMA Breast Centre guidelines and are audited by peers. The database was started in 2006 and includes over 110,000 cancers from breast centres located in Germany, Switzerland, Belgium, Austria, The Netherlands, Spain, Portugal and Italy. The aim of the present study is assessing time trends of QIs in EUSOMA-certified breast centres over the decade 2006-2015., Materials and Methods: Previously defined QIs were calculated for 22 EUSOMA-certified breast centres (46122 patients) during 2006-2015., Results: On the average of all units, the minimum standard of care was achieved in 8 of 13 main EUSOMA QIs in 2006 and in all in 2015. All QIs, except removal of at least 10 lymph nodes at axillary clearance and oestrogen receptor-negative tumours (T > 1 cm or N+) receiving adjuvant chemotherapy, improved significantly in this period. The desirable target was reached for two QIs in 2006 and for 7 of 13 QIs in 2015., Conclusion: The EUSOMA model of audit and monitoring QIs functions well in different European health systems and results in better performance of QIs over the last decade. QIs should be evaluated and adapted on a regular basis, as guidelines change over time., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Objective: To evaluate the degree of agreement of dietary intake reported by the patient subject with the dietary intake reported by a respondent (a next-of-kin or a caregiver), collected by a validated Food Frequency Questionnaire (FFQ)., Methodology: 126 adults, both sexes, the average age was 65.9 years for patients and 54.4 years for respondents. They were recruited from the General Practice Clinic at the Clinical Hospital of São Paulo (AGD-FMUSP). The agreement between the responses given by patients and respondents was assessed using Spearman, weighted Kappa and Bland Altman tests., Results: The analysis for accuracy between responses (Spearman test) showed a moderate degree of agreement (0.31-0.39) for Energy, Total fat, Total Saturated Fatty Acids (SFA), Total Monounsaturated Fatty Acids (MUFA). Regarding food groups a moderate agreement was found for the majority of the foods (fruits (0.30), dairy products (0.50), natural juices (0.45), beans (0.48), butter/margarine (0.55), coffee (0.41) and soda (0.45), with the exception of vegetables (0.12) and rice (0.63). The ingestion differences did not exceeded the limit of the two standard deviations for the majority of the pairs (Bland Altman). A respondent subsample composed only of husband/wives (N = 36) revealed a moderate agreement concordance for most macronutrients studied (0.30 - 0.58), except polyunsaturated fats (0.25)., Conclusion: The results of this study show that, the FFQ may be used in cases where is impossible to get the answers directly from the patients., Competing Interests: The authors declare that they have no conflicts of interest

Objective: Dermoid and epidermoid cysts rank among the most common pediatric tumors. We analyzed the outcomes of surgical excision of dermal and epidermal inclusion cysts in a large consecutive series of children., Methods: We retrospectively reviewed 128 consecutive children who underwent calvarial inclusion cyst resection between 2000 and 2010 at NYU Langone Medical Center. Demographic information, neurological exam, lesion location, lesion diameter, type of treatment, extent of resection, time of follow-up, and recurrence were collected., Results: The cohort includes 67 girls (52.3 %) and 61 boys (47.7 %). Age at diagnosis ranged from birth to 6.5 years (mean of 1.2 years) with surgical intervention between 1 month and 20 years of age (1.5 ± 2.1). Of the 128 patients, 107 underwent open resection. Surgical approach was determined by the senior surgeon. Location, postoperative cosmesis, and family preference were the determining factors. Endoscopic resection was favored with supraorbital and glabellar lesions (75 % endoscopic versus 25 % open) using a rigid scope via a single incision. Erosion of the outer table and involvement of the inner table was noted in 20 patients (15 %), 14 of which were reconstructed using a split thickness calvarial graft. These lesions were noted to be significantly larger than lesions where cranioplasty was not used (1.9 ± 2.81 cm versus 1.23 ± 0.98 cm, p = 0.022). Gross total resection was achieved in all cases., Discussion: Complete removal and cure from dermoid and epidermoid inclusion cysts are possible. Complications are few. Endoscopic approaches are useful to improve cosmesis and limit tissue damage for lesions near the orbits.

Background: Patients with liver disease often present protein-energy malnutrition. The assessment of food intake is very important in the investigation regarding the "health-disease" process., Objective: To assess dietary intake of cirrhotic patients through food record during 3 days, correlating it with the nutritional status of the patient and the stage of the disease., Methods: Cirrhotic outpatients from the Santa Casa de Misericórdia Hospital, RS, Brazil, were assessed. Nutritional assessment was performed by anthropometry; non-dominating handgrip strength; adductor pollicis muscle thickness; phase angle by bioelectrical impedance analysis; and Subjective Global Assessment. For analysis of food consumption we used the food records of 3 days using scales for weighing of all foods., Results: We evaluated 25 (68%) patients, in which there was a prevalence of cirrhosis by hepatitis C virus. The upper arm circumference, handgrip strength and phase angle by bioelectrical impedance analysis diagnosed 56% of malnourished. Phase angle by bioelectrical impedance analysis and upper arm circumference were associated with Child-Pugh score (P<0.05). The average consumption of calories, carbohydrates, proteins and lipids were within the recommended. However, sodium was above the recommendations, 106±57.2 mEq, and was inversely associated with Child-Pugh score (rs=-0.410; P=0.042)., Conclusion: Food intake did not have a significant difference between the Child-Pugh scores and nutritional status. In addition, food intake did not vary neither according to the stage of the disease, nor to the nutritional assessment, by the phase angle by bioelectrical impedance analysis.

The authors report the case of 14-year-old girl with a history of myelomeningocele and previously shunt-treated hydrocephalus who presented with right-sided abdominal pain and subcutaneous emphysema that developed over a 1-week period. A CT scan of the patient's abdomen revealed a retained distal ventriculoperitoneal (VP) catheter with air tracking from the catheter to the upper chest wall. Given the high suspicion of the catheter being intraluminal, an exploratory laparotomy was performed and revealed multiple jejunal perforations. The patient required a partial small-bowel resection and reanastomosis for complete removal of the retained catheter. Six other similar cases of bowel perforation occurring in patients with abandoned VP and subdural-peritoneal shunts have been reported. The authors analyzed these cases with regard to age of presentation, symptomatic presentation, management, morbidity, and mortality. While there was 0% mortality associated with bowel perforation secondary to a retained distal VP catheter, the morbidity was significantly high and included peritonitis and small bowel resection.

Background: Occipital artery pseudoaneurysms are extremely rare pathologies that manifest after traumatic injury; only 11 cases have been reported in the literature. Because of their low incidence and vague symptoms, the initial diagnosis can be difficult. However, for correctly diagnosed occipital artery pseudoaneurysms, many successful treatment modalities exist., Methods: We review the pathology of occipital pseudoaneurysms, elucidate the reasons for their rarity, discuss effective diagnostic measures, and discuss the currently available treatment options. We also present a case of a 16-year-old boy who sustained blunt force trauma in May 2014 and presented 6 months later with a painful, pulsatile mass in the occipital region., Results: The patient underwent surgical resection to alleviate the pain and the potential risk of hemorrhage. He experienced complete resolution of pain and associated symptoms., Conclusions: Our case highlights the fact that occipital swelling, a significant initial sign of pseudoaneurysm development, can be delayed. Therefore, occipital artery pseudoaneurysms cannot be ruled out of the differential diagnosis based on time course alone. Surgical resection is a quick and effective method for relief of severe pain resulting from occipital artery pseudoaneurysms. Although they are rare entities, occipital artery pseudoaneurysms must be considered in the differential diagnosis of cases of pulsatile mass lesions in the posterior scalp., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Introduction: Studies on infant dietary intake do not generally focus on the types of liquids consumed. Objective: To document by age and breastfeeding status, the types of liquids present in the diet of Mexican children under 1 year of age (< 1 y) who participated in the National Health and Nutrition Survey 2012 (ENSANUT-2012). Methods: Analysis of the infant < 1 y feeding practices from the ENSANUT-2012 survey in non-breastfed (non-BF) and breastfed (BF) infants by status quo for the consumption of liquids grouped in: water, formula, fortified LICONSA milk, nutritive liquids (NL; thin cereal-based gruel with water or milk and coffee with milk) and non-nutritive liquids (non-NL) as sugared water, water-based drinks, tea, beans or chicken broth, aguamieland coffee. In this infants < 1 y we analyzed the not grouped consumption of liquids in the first three days of life (newborns) from the mother’s recall. Percentage and confidence intervals (95% CI) were calculated adjusting for survey design. Statistical differences were analyzed by Z test. Results: We observed a high consumption of human milk followed by formula (56.7%) and water (51.1%) in infants under 6 months of age (< 6 mo). The proportion of non-BF infants consuming non-NL was higher than for BF infants (p < 0.05). More than 60% of older infants (6 mo and < 1 y) consumed formula and were non-BF. In newborns formula consumption was predominant, followed by tea or infusion and water. Conclusions: Non-breast milk liquids are present undesirably in Mexican infants’ diet and non-NL are consumed earlier than NL, revealing inadequate early dietary practices.

Background: Myeloablative and hematopoietic stem cells transplantation therapy (HSCT) often acts as side-effect to oral mucositis (OM) with no effective treatment. This randomized-controlled trial analyzed the efficacy of palifermin, administered as a dose during HSCT therapy, as primary prophylaxis on pediatric patients with acute lymphoblastic leukemia (ALL)., Methods: In this study forty-six patients (9-15 years) with B-cell acute lymphoblastic leukemia (B-ALL) were analyzed. The patients underwent allogenic HSCT conditioned by myeloablative regimen. Subsequently to randomization, patients in the palifermin group were assigned to receive palifermin, 60 mg/kg, intravenously as a single dose 3 days before and after transplant conditioning regimen cycle. The patients in the Control group received only a placebo treatment. Maximum severity of OM, incidence and duration of ulcerative OM, incidence and duration of severe OM limitations were evaluated., Results: A statistically significant reduction in the incidence of OM up to grade 3 in the palifermin group compared to the control group was discovered. There was also a reduction, confirmed at 60 days, in the degree of severity of mucositis in the palifermin group, with an average of 1.54 grade in the palifermin group, and of 2.16 in the Control group and in the use of opioid analgesics., Conclusions: This study indicates that a single dose of palifermin used as primary prophylaxis during HSTC therapy can prevent severe OM in pediatric patients with ALL and used as secondary prophylaxis can prevent the recurrence of severe OM in high-risk patients with previous mucosal injury and improves the quality of life in pediatric patients with ALL.

Aim: Retention is the phase of orthodontic treatment that attempts to hold teeth in their corrected positions after orthodontic therapy is completed. The aim of this study was to consider fiber-reinforced composites (FRC) as a possible alternative to conventional multistranded stainless steel wire for retention through SEM analysis., Methods: Two different FRC orthodontic retainers were investigated, i.e. Everstick® (Stick Tech Ltd, Turku, Finland) (type A, 24 samples), with a diameter of 0.76 mm made of glass fibers and a Young's modulus of elasticity of 28 gpa, and Ribbond® (Ribbond, Inc., Seattle, Washington, WA, USA) (type B, 24 samples), with ultra high molecular weight and with an high Young's modulus of elasticity by polyethylene fibers cold treated with plasma gas. Six groups were created: control groups A1 and B1, composed by 8 type A and 8 type B samples without impregnation and only with fluid resin before curing; groups A2 and B2, composed respectively by 8 type A and 8 type B samples impregnated with fluid resin Heliobond for 6 seconds; groups A3 and B3, composed respectively by 8 type A and 8 type B samples impregnated with fluid resin Heliobond for 6 minutes before curing., Results: Cross- and lengthwise SEM analysis of the sectioned samples made showed that fiber without impregnation with fluid resin, before curing, showed interwoven and straight directed cylindrical fibers. The SEM analysis denoted that the two types of fiber shows structural characteristics differing in dimension, number, diameter and orientation of FRC without a preliminary treatment through impregnation of the fibers with fluid resin., Conclusion: An impregnation time of 6 seconds could considerably reduced voids, crazes and microcracks of the fibers, making them more resistant to the other oral and bacterial agents. A larger time of impregnation (6 minutes), with fluid resin before hardening, further enhances the morphological characteristics of the FRC.

Purpose: Mondini dysplasia is a rare congenital inner ear malformation that presents with abnormal cochlear development with accompanied vestibular dilation and vestibular aqueduct enlargement. This dysfunctional anatomy provides the potential for sensorineural hearing deficits, cerebrospinal fluid leaks, and severe cases of recurrent meningitis., Methods: We present the case of a child with Mondini dysplasia who presented with unilateral hearing loss and cerebrospinal fluid (CSF) otorrhea that was surgically repaired through a combined middle fossa/transmeatal middle ear approach to alleviate any recurrence of infection and cerebrospinal fluid otorrhea., Results: Postoperatively, the patient remained neurologically stable without any further CSF leakage. CSF cultures revealed a Pseudomonas aeruginosa infection, a rare occurrence within the context of Mondini dysplasia. Retrograde bacterial spread from the external ear canal into the CSF space has been theorized as the possible pathogenesis of the resulting meningitis. The patient was successfully treated with intravenous antibiotics without any neurologic complications., Conclusions: Although Mondini dysplasia is a rare malformation, the life-threatening sequelae of meningitis that can result from the dysfunctional anatomy makes it a condition that requires elevated clinical vigilance, especially when considering children with hearing loss associated with recurrent meningitis, otorrhea, or rhinorrhea.

Background: In cirrhosis the production of cholesterol and lipoproteins is altered., Objective: Evaluate the lipid profile by measuring total cholesterol, very low-density lipoprotein, low-density lipoprotein, high-density lipoprotein and triglyceride levels in patients with cirrhosis caused by alcoholism and/or hepatitis C virus infection and determine its association with Child-Pugh and MELD scores., Methods: Cross-sectional retrospective study of patients treated at the outpatient clinic in Porto Alegre, Brazil, from 2006 to 2010., Results: In total, 314 records were reviewed, and 153 (48.7%) met the inclusion criteria, of which 82 (53.6%) had cirrhosis that was due to hepatitis C virus infection, 50 (32.7%) were due to alcoholism, and 21 (13.7%) were due to alcoholism and hepatitis C virus infection. The total cholesterol levels diminished with a Child-Pugh progression (P<0.001). Child-Pugh C was significantly associated with lover levels of low-density lipoprotein (<70 mg/dL; P<0.001), high-density lipoprotein (<40 mg/dL; P<0.001) and triglyceride (<70 mg/dL; P=0.003). MELD>20 was associated with lower total cholesterol levels (<100mg/dL; P<0.001), very low-density lipoprotein (<16 mg/dL; P=0.006), and low-density lipoprotein (<70 mg/dL; P=0.003). Inverse and statistically significant correlations were observed between Child-Pugh and all the lipid fractions analyzed (P<0.001). The increase in MELD was inversely correlated with reduced levels in total cholesterol (P<0.001), high-density lipoprotein (P<0.001), low-density lipoprotein (P<0.001), very low-density lipoprotein (P=0.030) and triglyceride (P=0.003)., Conclusion: A reduction in the lipid profile in patients with cirrhosis due to hepatitis C virus infection and/or alcoholism was significantly associated with the Child-Pugh and MELD prognostic markers. These results suggest that the lipid profile may be used as a tool to assist in evaluating liver disease.

Background: Carriers of hepatitis C virus have lower levels of total cholesterol, high density lipoprotein-cholesterol, low density lipoprotein- cholesterol and triglycerides compared to uninfected patients. With the progression of liver disease, the values ​​for cholesterol and its fractions reduce linearly, with reduction ratio of lipid profile and markers Child-Pugh and MELD., Aim: To determine the relationship between decrease dlipid profile with clinical outcome presented (liver transplantation or death pre-transplant)., Methods: Was conducted a cross sectional analytical study of a follow-up study performed by reviewing medical records. Cirrhotic patients treated at theClinic of Gastroenterology from a large tertiary hospital with cirrhosis of viral etiology and/or alcohol were studied. The clinical characteristics (gender, age and etiology of cirrhosis) and lipid profile data from150 patients were collected in the year 2010.To analyze the occurrence of clinical outcomes (liver transplantation or death pre-transplant) patients were evaluated after four years., Results: The prevalent cause was hepatitis C virus (53,3%), followed by alcohol (32%) and hepatitis C and alcohol (14,6%). Males represented 62% of the sample and the average age was 63.1±9.11 years. The prevalent lipid changes were hypocholesterolemia associated with hypotriglyceridemia (36,6%) and isolated hypocholesterolemia (34,6%). Analyzing groups of patients that showed abnormalities related to lipid profile, was identified a significant association between isolated hypocholesterolemia and clinical outcome-liver transplant(p <0.025) and 18% probability of performing liver transplantation in this group of patients. There was no association between decreased lipid profile and death., Conclusion: Isolated hypocholesterolemia contributes to assess the progression of liver disease, because of the association between lowering cholesterol and its fractions and the clinical outcome - liver transplant.

Object: Subependymal giant cell astrocytomas (SEGAs) are benign tumors, most commonly associated with tuberous sclerosis complex (TSC). The vast majority of these tumors arise from the lateral ependymal surface adjacent to the foramen of Monro, therefore potentially encroaching on one or both foramina, and resulting in obstructive hydrocephalus that necessitates surgical decompression. The indications for surgery, intraoperative considerations, and evolution of the authors' management paradigm are presented., Methods: Patients with TSC who underwent craniotomy for SEGA resection at New York University Langone Medical Center between January 1997 and March 2011 were identified. Preoperative imaging, clinical characteristics, management decisions, operative procedures, and outcomes were reviewed., Results: Eighteen patients with TSC underwent 22 primary tumor resections for SEGAs. The indication for surgery was meaningful radiographic tumor progression in 16 of 21 cases. The average age at the time of operation was 10.3 years. Average follow-up duration was 52 months (range 12-124 months). The operative approach was intrahemispheric-transcallosal in 16 cases, transcortical-transventricular in 5, and neuroendoscopic in 1. Nine tumors were on the right, 9 on the left, and 3 were bilateral. Gross-total resection was documented in 16 of 22 cases in our series, with radical subtotal resection achieved in 4 cases, and subtotal resection (STR) in 2 cases. Two patients had undergone ventriculoperitoneal shunt placement preoperatively and 7 patients required shunt placement after surgery for moderate to severe ventriculomegaly. Two patients experienced tumor progression requiring reoperation; both of these patients had initially undergone STR., Conclusions: The authors present their management strategy for TSC patients with SEGAs. Select patients underwent microsurgical resection of SEGAs with acceptable morbidity. Gross-total resection or radical STR was achieved in 90.9% of our series (20 of 22 primary tumor resections), with no recurrences in this group. Approximately half of our patient series required CSF diversionary procedures. There were no instances of permanent neurological morbidity associated with surgery.

Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome with a prevalence of approximately 1 in 30,000. NF 2 is characterized by bilateral vestibular schwannomas, as well as meningiomas, ependymomas and gliomas. Currently, surgical resection and radiotherapy represent the mainstay of treatment, although new studies suggest a role for certain chemotherapeutic agents. Intravenous administration of Bevacizumab (Avastin, Genetech Pharmaceuticals) has been shown to be active in the treatment of vestibular schwannomas. The IV route of administration, however, carries a risk of known systemic side-effects such as bowel perforation, wound dehiscence and pulmonary embolism. In addition, the percentage of drug that reaches the tumor site may be restricted by the blood tumor barrier. This report describes the super-selective intra-arterial infusion of Bevacizumab following blood brain barrier disruption for the treatment of vestibular schwannomas in three patients with Neurofibromatosis type 2. It represents the first time such a technique has been performed for this disease. Additionally, this method of drug delivery may have important implications in the treatment of patients with vestibular schwannomas associated with Neurofibromatosis type 2.

Subependymal giant cell astrocytomas (SEGAs) are benign tumors, most commonly associated with tuberous sclerosis complex (TSC). Arising from the lateral ependymal surface, these tumors may obstruct one or both foramina of Monro, resulting in hydrocephalus and often requiring treatment. Although interhemispheric-transcallosal and transcortical-transventricular approaches have been the standard methods for resecting these tumors, advances in neuroendoscopic techniques have expanded SEGAs as a potential target for endoscopic resection. The authors present a case of an endoscopically resected SEGA with stereotactic guidance in a 4-year-old girl with TSC. A gross-total resection of an enlarging SEGA was achieved. This represents one of the early case reports of endoscopically resected SEGAs. Although recent advances in medical treatment for SEGAs with mammalian target of rapamycin (mTOR) pathway inhibitors have shown promising initial results, the long-term safety and efficacy of mTOR inhibitors has yet to be determined. The propensity of these tumors to cause obstructive hydrocephalus requires that a surgical option remain. Neuroendoscopic approaches may allow a safe and effective technique.

Context: Malnutrition in cirrhotic patients with end-stage disease is common, and the degree of nutritional debilitation can play an important role in the pathogenesis of complications and cause a negative impact on prognosis. However, it involves difficulties and controversies regarding the identification of the best nutritional assessment method., Objective: To identify a method that provides a safe and effective nutritional diagnosis., Methods: Cross-sectional study with 129 cirrhotic patients. Anthropometric measurements, subjective global assessment, hand grip strength and bioelectrical impedance., Results: Through phase angle of bioelectrical impedance analysis (BIA) method, significant associations with Child-Pugh (P = 0.008), age group and gender were observed. The ROC (receiver operator characteristic) curve was generated to determine the best cutoff point of the phase angle of cirrhotic patients, serving as one of the reference parameters for the nutritional assessment with bioimpedance in this study, considering the classification through Child-Pugh score as the reference standard for the clinical conditions of patients with cirrhosis., Conclusions: The assessment through bioelectrical impedance presented a statistically significant correlation with Child-Pugh score. The identification of phase angle of 5.44º is the new parameter suggested for the classification of the nutritional conditions of cirrhotic patients.

Object: Techniques for the placement of intrathecal baclofen (ITB) systems have been described in detail, with special consideration given to complications from hardware placement. Risks including catheter kinking and migration, hardware erosion through the skin, and lumbar CSF leak are elevated given the often-low body mass index and poor nutritional status of this patient population. The bulk of a spinal catheter and fascial connector within the lumbar wound may increase the potential for the aforementioned risks, leading to potential risks for wound infection and breakdown. The authors' experience has led them to develop a novel method of paraspinal subfascial lumbar catheter placement to address these risks. The authors describe a novel lumbar intrathecal catheter placement technique as part of the ITB system., Methods: All patients undergoing placement of an ITB system by the senior author at New York University Langone Medical Center between July 2010 and March 2011 underwent paraspinal subfascial lumbar catheter placement. Patients were followed-up by the surgeon 2 weeks after implantation and followed up and managed by their physiatrist thereafter, for an average of 5 months (range 0.5-9 months). Results Of the 20 patients who underwent this method of intrathecal catheter placement, none developed any hardware erosion, catheter migration, or CSF leak. One patient developed an abdominal wound infection 3 weeks after implantation, necessitating pump removal., Conclusions: In this initial short-term experience, subfascial placement of the lumbar spine intrathecal catheter may be an improvement over the traditional method of catheter placement. There is reduced risk of catheter migration or kinking, hardware erosion, CSF leak, and decreased operative time, all yielding a decreased reoperation rate in this vulnerable population.

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

Object: The authors undertook this study to analyze the efficacy of vagus nerve stimulation (VNS) in a large consecutive series of children 18 years of age and younger with treatment-resistant epilepsy and compare the safety and efficacy in children under 12 years of age with the outcomes in older children., Methods: The authors retrospectively reviewed 141 consecutive cases involving children (75 girls and 66 boys) with treatment-resistant epilepsy in whom primary VNS implantation was performed by the senior author between November 1997 and April 2008 and who had at least 1 year of follow-up since implantation. The patients' mean age at vagus nerve stimulator insertion was 11.1 years (range 1-18 years). Eighty-six children (61.0%) were younger than 12 years at time of VNS insertion (which constitutes off-label usage of this device)., Results: Follow-up was complete for 91.8% of patients and the mean duration of VNS therapy in these patients was 5.2 years (range 25 days-11.4 years). Seizure frequency significantly improved with VNS therapy (mean reduction 58.9%, p < 0.0001) without a significant reduction in antiepileptic medication burden (median number of antiepileptic drugs taken 3, unchanged). Reduction in seizure frequency of at least 50% occurred in 64.8% of patients and 41.4% of patients experienced at least a 75% reduction. Major (3) and minor (6) complications occurred in 9 patients (6.4%) and included 1 deep infection requiring device removal, 1 pneumothorax, 2 superficial infections treated with antibiotics, 1 seroma/hematoma treated with aspiration, persistent cough in 1 patient, severe but transient neck pain in 1 patient, and hoarseness in 2 patients. There was no difference in efficacy or complications between children 12 years of age and older (FDA-approved indication) and those younger than 12 years of age (off-label usage). Linear regression analyses did not identify any demographic and clinical variables that predicted response to VNS., Conclusions: Vagus nerve stimulation is a safe and effective treatment for treatment-resistant epilepsy in young adults and children. Over 50% of patients experienced at least 50% reduction in seizure burden. Children younger than 12 years had a response similar to that of older children with no increase in complications. Given the efficacy of this device and the devastating effects of persistent epilepsy during critical developmental epochs, randomized trials are needed to potentially expand the indications for VNS to include younger children.

To describe the infant feeding practices in the general population in Uganda, and to assess the impact of maternal HIV status on these practices, a questionnaire was administered to women attending the follow-up clinics for child vaccination. Among the mothers who were still breastfeeding at the time of interview (N=838), 61.4% of the HIV-infected women had planned to breastfeed for a maximum of 6 months, compared with 12.1% of the HIV-uninfected women (p<0.001). Among the women who were not breastfeeding at the time of interview (N=108), 82.5% of the HIV-infected women had stopped breastfeeding within 3 months, compared with 23.5% of the HIV-uninfected women (p<0.001). Only 2.1% of HIV-infected women seen up to 14 weeks postnatally practised mixed feeding, compared with 23.6% of HIV-uninfected women (p<0.001). After 6 months, however, 30% of the HIV-infected women and 55% of the HIV-uninfected mothers were using mixed feeding, with no significant differences. Programmes for the prevention of mother-to-child transmission of HIV should re-enforce counseling activities to address the issue of early weaning by HIV-infected women, and to support safe breastfeeding up to 6 months.

Pulsar systems accelerate particles to immense energies. The detailed functioning of these engines is still poorly understood, but polarization measurements of high-energy radiation may allow us to locate where the particles are accelerated. We have detected polarized gamma rays from the vicinity of the Crab pulsar using data from the spectrometer on the International Gamma-Ray Astrophysics Laboratory satellite. Our results show polarization with an electric vector aligned with the spin axis of the neutron star, demonstrating that a substantial fraction of the high-energy electrons responsible for the polarized photons are produced in a highly ordered structure close to the pulsar.

A retrospective survey to estimate the prevalence of hepatitis B (HBV) and C (HCV) infections was conducted on the samples of 247 African HIV-1 positive pregnant women who had participated to a mother-to-child prevention trial carried out in urban settings in Kampala, Uganda and Kigali, Rwanda. Hepatitis B markers studied were HBs antigen (HBsAg) and, if positive after confirmatory testing, HBe antigen/anti-HBe antibodies and HBV DNA. A fourth generation HCV enzyme immunoassay (EIA) was used for primary HCV screening. Positive samples were analyzed further with a second different EIA. Both for HBV and for HCV the use of confirmatory tests allowed the removal of frequent false-positive screening results. HBsAg was found in 10/246 women (seroprevalence 4.1%, 95% confidence interval (95%CI) 1.7-6.8): 8/164 (4.9%) in Uganda and 2/82 (2.4%) in Rwanda. HBe Ag was found in 33% of HBsAg-positive patients and HBV DNA was quantifiable in 71%. Anti-HCV antibodies were found in 5/247 women (seroprevalence 2.0% 95%CI 0.3-3.9): 1/165 (0.6%) in Uganda and 4/82 (4.9%) in Rwanda. There was no interrelation between HCV and HBV markers. There was no difference between patients with and without co-infection with HBV or HCV with regards to CD4+ cell count. Overall, hepatitis B and C co-infection was relatively infrequent in this group of pregnant women. However, since approximately 6% of HIV-positive women in these countries had a co-infection with one hepatitis virus, caution should be used in the monitoring of possible hepatotoxicity related to antiretroviral drugs in these populations., ((c) Wiley-Liss, Inc.)

To identify factors that may limit acceptance of HIV testing and enrolment in the programmes for the prevention of mother-to-child-transmission of HIV, we retrospectively assessed the performance of the service at St Francis Hospital, Nsambya in Kampala. Over five years, a total of 26,556 pregnant women were offered voluntary counselling and confidential HIV testing and, if HIV positive, enrolment in the programme. Acceptance of the HIV test increased in the last two years (from 72.7% in 2001-2002 to 79.9% in 2003-2004). Enrolment in the programme increased over time and was greater among older (64% in women older than 30 years and 44.8% in those aged less than 20 years) and highly educated women. HIV prevalence was associated with age and inversely associated with the level of education. The need for specific personnel for counselling, male partners' involvement and availability of antiretroviral drugs for those who needed treatment were identified as factors possibly affecting implementation.

Objective: To evaluate the impact of different modalities of infant feeding on HIV transmission in children in a prevention of mother-to-child transmission (PMTCT) program in an urban hospital in Uganda., Methods: HIV-infected pregnant women in the PMTCT program at St Francis Hospital Nsambya, Kampala were offered the chance to participate in the study. Short-course antiretroviral regimens were provided and formula feeding offered free of charge for women choosing not to breastfeed. Mother-infant pairs were followed until 6 months postpartum. HIV status in children was assessed at week 6 and month 6. For the analyses, mother-infant pairs were classified into three groups according to the mode of infant feeding: exclusive formula feeding (EFF), exclusive breastfeeding (EBF) and mixed feeding (MF)., Results: A total of 306 children were enrolled. Transmission rates were 8.9% at week 6 (3.4% in the EFF group, 11.2% in the EBF group, 17.1% in the MF group) and 12.0% at month 6 (3.7% in the EFF group, 16.0% in the EBF group, and 20.4% in the MF group). The EBF and MF groups were associated with a significantly higher risk of HIV transmission than the EFF group. No significant risk difference was observed between the EBF and the MF groups., Conclusions: HIV transmission rates were significantly lower in formula-fed infants in comparison with both exclusively breastfed and mixed-fed infants. Transmission through breastfeeding seems to occur mainly in the first weeks after delivery.

Background and Aim: Macrophage inflammatory protein 3alpha (MIP-3alpha) is a recently described lymphocyte directed C-C chemokine expressed predominately at extralymphoid sites, including the intestine. The aim of this study was to determine whether colonic epithelial cells produce MIP-3alpha and whether its expression is upregulated in inflammatory bowel disease., Methods and Results: We found that interleukin 1beta and tumour necrosis factor alpha dose dependently stimulated MIP-3alpha production in Caco-2 and HT-29 intestinal epithelial cells. In cytokine treated Caco-2 and HT-29 cells, a significant increase in MIP-3alpha protein production was observed after three hours and continued for at least 24 hours. Analysis of colonic tissues by quantitative real time polymerase chain reaction and ELISA revealed significantly elevated MIP-3alpha mRNA levels (7.9-fold; p<0.05) and protein levels (8.9-fold; p<0.05) in Crohn's disease compared with controls or ulcerative colitis. MIP-3alpha immunoreactivity in normal colon and inflammatory bowel disease was principally associated with crypt and surface epithelial cells. Moreover, MIP-3alpha protein levels were elevated in primary epithelial cells isolated from patients with inflammatory bowel disease., Conclusions: These findings indicate that increased enterocyte MIP-3alpha production may play an important role in lymphocyte activation and recruitment to the colonic epithelium in Crohn's disease and ulcerative colitis.

Lidocaine and related local anaesthetics have been shown to be effective in the treatment of ulcerative colitis (UC). However, the mechanisms underlying their therapeutic effect are poorly defined. Intestinal epithelial cells play an important role in the mucosal inflammatory response that leads to tissue damage in UC via the secretion of pro-inflammatory cytokines and chemokines. The aim of this study was to evaluate the direct immunoregulatory effect of lidocaine on pro-inflammatory cytokine and chemokine secretion from intestinal epithelial cells. HT-29 and Caco-2 cell lines were used as a model system and treated with lidocaine and related drugs. The expression of IL-8, IL-1beta and the IL-1 receptor antagonist (RA) were assessed by ELISA and quantification of mRNA. In further experiments, the effect of lidocaine on the secretion of IL-8 from freshly isolated epithelial cells stimulated with TNFalpha was tested. Lidocaine, in therapeutic concentrations, inhibited the spontaneous and TNFalpha-stimulated secretion of IL-8 and IL-1beta from HT-29 and Caco-2 cell lines in a dose-dependent manner. Similarly, suppression of IL-8 secretion was noted in the freshly isolated epithelial cells. Other local anaesthetics, bupivacaine and amethocaine, had comparable effects. Lidocaine stimulated the secretion of the anti-inflammatory molecule IL-1 RA. Both the inhibitory and the stimulatory effects of lidocaine involved regulation of transcription. The results imply that the therapeutic effect of lidocaine may be mediated, at least in part, by its direct effects on epithelial cells to inhibit the secretion of proinflammatory molecules on one hand while triggering the secretion of anti-inflammatory mediators on the other.

Background: Papillary cystic neoplasm of the pancreas is a rare disorder that occurs most commonly in young women. It has a low potential for malignancy, and the prognosis following resection is favourable., Case Outline: An 18-year-old white girl presented with a palpable mass in the right hypochondrium on physical examination associated with epigastric pain, nausea and vomiting, but no fever. Upper gastro-intestinal endoscopy revealed extrinsic compression of the posterior wall of the antrum and duodenal bulb with no mucosal lesion. Computed tomography (CT) scan and then laparotomy revealed a large tumour adjacent to the hepatic hilum and originating from the head of pancreas. Pancreatoduodenectomy was performed, and a diagnosis of papillary cystic neoplasm of the pancreas was made.There was no evidence of recurrence after 6 years of follow-up., Discussion: A radical surgical approach is justified for papillary cystic neoplasm of the pancreas because of its biological behaviour, local aggressiveness and low incidence of metastases.

Background: Haemoperitoneum secondary to non-traumatic liver rupture is a rare but potentially fatal condition. It may result from several neoplastic and non-neoplastic diseases such as primary benign or malignant tumours, peliosis hepatis, polyarteritis nodosa, systemic lupus erythematosus, pre-eclampsia and metastatic carcinoma., Case Outlines: Three cases of spontaneous haemoperitoneum caused by rupture of hepatocellular carcinoma are described. All three patients (two men, one woman) had cirrhotic livers, and all were submitted to an urgent operation.One patient re-bled on a second occasion. Emergency operation was undertaken four times in three patients and was successful on all but one occasion., Discussion: The prognosis for patients with haemoperitoneum is generally poor. Although this condition is relatively frequent in some regions of Asia and Africa, it has rarely been reported in Western countries.The present experience shows that emergency laparotomy can be life-saving.

Spontaneous esophageal perforation (Boerhaave's syndrome) remains a difficult diagnostic and management problem with controversial recommendations regarding its treatment. The clinical manifestations of the disease are variable, and may be misleading, thus delaying accurate recognition. On the other hand, in view of the rapid onset of severe complications, particularly mediastinitis, a prompt diagnosis is essential to a better prognosis, successful operative outcome and potential survival. A case of spontaneous perforation of the thoracic esophagus penetrating the left pleural space treated within 4 hours from admission to the Emergency Room, with minimal surgical intervention is presented. Despite negative chest X-ray, a thoracic TC showed a small right sided effusion with left sided hydropneumothorax, and the definitive diagnosis was obtained by contrast study with a water soluble medium which showed the leak communicating freely with the left pleural space. The patient underwent repair by thoracic approach, the rupture was closed with a primary suture without flap reinforcement and the pleural space drained with the placement of single chest thoracostomy tube. The recovery was uneventful. The analysis of this case report and of the appropriate literature reveals that a poor prognosis is correlated with the time elapsed between the perforation and treatment. In conclusion the importance of an early aggressive surgical treatment for the Boerhaave's syndrome is emphasized, because any perforation treated more than 24 hours after the onset of symptoms, irrespective of the procedure used, is associated with a significantly higher morbility and mortality.

This study was designed to evaluate locoregional anesthesia (double block of sciatic and femoral nerves with ENS) for ambulatory knee arthroscopic surgery. A statistical evaluation was performed in 50 adult outpatients (41 males, 9 females, ASA class 1 or 2) undergoing ambulatory knee arthroscopic procedures. Basal and intraoperative BP, HR SaO2 were recorded and the intensity of analgesia was also assessed according to the patient's subjective evaluation. Extra sedative or analgesic requirements were also recorded. There were no statistical changes in hemodynamic parameters during the perioperative period. The effectiveness of the anaesthetic block was classified as very good in 84% of patients, good in 2%, sufficient in 6% and inadequate in 8%. All patients were discharged in four hours after surgery. Our study shows that in ambulatory arthroscopic surgery, sciatic and femoral block with ENS is a valuable alternative to general anaesthesia.

Renal function was assessed in 20 (11 female and 9 male, age 21-76 years, mean 53) renal patients with a creatinine clearance 25-145 ml/min, mean 95, to evaluate the effects of iohexol, a non-ionic low-osmolar contrast medium. Intravenous urography was performed in 16 patients and computed body tomography in 4, using a dose of iohexol ranged between 0.6-3.3 (mean 1.17) g/kg b.w. Different parameters of renal function were determined in the week preceding and 1, 3 and 5 days after the administration of iohexol. The principal renal effect of iohexol was an increase of urinary alanine aminopeptidase, gamma-glutamyltransferase, lactate dehydrogenase, alkaline phosphatase and N-acetyl-beta-D-glucosaminidase. The maximum increase of enzymuria was observed on day 1 after the administration of iohexol. In most cases enzymes returned to base-line values within 3 days. No relevant variation of renal hemodynamics (glomerular filtration rate and effective renal plasma flow) was observed after iohexol. In conclusion, iohexol can increase of urinary enzymes, but the effect is rapidly reversible and is not accompanied by a clinically significant impairment of renal hemodynamics.