Search

Background Safety of HPV vaccines is still in question due to reports of autoimmune diseases (ADs) following HPV immunization. Objectives To assess the risk of ADs associated with HPV vaccination of female adolescents/young adults in France. Methods Systematic prospective case-referent study conducted to assess the risks associated with real-life use of HPV vaccines. Cases were female 11–25 years old with incident ADs [central demyelination/multiple sclerosis (CD/MS), connective tissue disease (CTD), Guillain-Barre syndrome (GBS), type-1 diabetes (T1D), autoimmune thyroiditis (AT), and idiopathic thrombocytopenic purpura (ITP)]. Cases were consecutively and prospectively identified at specialized centers across France (2008–2014) and individually matched by age and place of residence to referents recruited in general practice. Risk was computed using multivariate conditional logistic regression models adjusted for family history of ADs, living in France (north/south), co-medications and co-vaccinations. Results With a total of 478 definite cases matched to 1869 referents, all ADs combined were negatively associated to HPV vaccination with an adjusted odds ratio of 0.58 (95% confidence interval: 0.41–0.83). Similar results were obtained for CD/MS, AT, CT, and T1D, the last two not reaching statistical significance. No association was found for ITP and GBS. Sensitivity analyses combining definite and possible cases with secondary time window showed similar results. Conclusion Exposure to HPV vaccines was not associated with an increased risk of ADs within the time period studied. Results were robust to case definitions and time windows of exposure. Continued active surveillance is needed to confirm this finding for individual ADs.

Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner. Biochemical levels and underlying mutation(s) were obtained through medical records. The overall sample performed below normative expectations across neuropsychological domains, including general cognition, adaptive functioning, language ability, and visual-motor integration. Underlying mutations and associative clinical phenotypes were found to significantly predict general cognitive abilities, while plasma methionine and Hcy at the time of diagnosis were significantly correlated with language outcomes. Despite limited sample size, results indicate that Hispanic children with CblC disease detected through NBS and treated early experience neuropsychological deficits even when treated with current standard treatments. However, consistent with prior research in non-Hispanic children with CblC disease, underlying mutations and early biochemical levels may predict better outcomes in this population as well.

For both diesel and gasoline internal-combustion engines, stringent emissions regulations and fuel economy requirements have significantly intensified the demand on the turbocharger compressor operating flow range with high efficiency levels. To address these needs, the ongoing research and development effort has been focused on advanced turbocharger technologies for a high efficiency and a wide operating range. In this paper, a research effort is reported to enhance further the classic ported shroud or recirculating casing treatment with the addition of two switchable ports along the impeller shroud, which allows an augmented high-speed choke flow range without sacrificing the surge margin and efficiency. Impeller aerodynamic blade design considerations for exploiting this new dual-port casing treatment concept are discussed. Flow bench test results demonstrate that the underlying concepts of the new dual-port casing treatment implemented with a recently developed advanced centrifugal compressor impeller lead to 12% extra flow capacity at the rated speed over the same compressor with a conventional single-port recirculating casing treatment.

Fixed-geometry centrifugal compressors have inherent limitations in the off-design operating range and performance that can be delivered. Variable inlet swirl, typically introduced with variable inlet guide vanes, has been a frequent tool implemented across many industries to extend the stable operating range and off-design efficiency. However, a review of available data in the literature reveals a large disparity in the effectiveness of variable inlet swirl for useful map movement. An ideal configuration responds to preswirl with a significant reduction in the mass flow at instability along with increased efficiency. Unfortunately, some cases reveal no movement in the surge line, with increases in inlet swirl only serving to reduce the stage efficiency. This study investigates underlying causes for the variation in sensitivity to inlet swirl amongst various compressor designs, represented by form parameters. An analytical model is established and then verified using CFD and selected test data to explore fundamental causes for decreased sensitivity to inlet swirl. Analytical and computational results suggest a new understanding of the governing parameters for inlet swirl sensitivity, and thus provide insight into the scenarios when inlet swirl is an effective tool for manipulation of performance characteristics. Synthesizing the underlying trends, guidelines are developed for design selections and operational situations when inlet swirl can be effectively implemented as a means to extend the stable operating range and off-design efficiency.

The design of centrifugal stages with an impeller and a downstream diffuser has generally been based on the assumption of axisymmetric flow at the impeller discharge. Flow entering the diffuser has customarily been assumed to also be axisymmetric, at least on a time-averaged basis, while laying out the diffuser vanes, establishing the preferred incidence, and sizing the throat areas. Recent stage studies have shown that the flow is often not fully axisymmetric, that not all diffuser passages perform the same way even at the design or best efficiency points, and that the actual time-averaged diffuser inlet flow conditions (distortion) may be changing from one operating point to another. In this study, comprehensive time-averaged (steady) results from one test rig with a large array of impeller exit pressure taps is examined. Supporting results from five other test rigs are reviewed to broaden the picture of possible flow states. Hypotheses, suitable for future evaluation, are given to begin the explanation of the actual flow states and to guide further research. The current status of CFD to understand these phenomena is discussed.

The current pilot study examined functional magnetic resonance imaging (fMRI) activation in children with mild traumatic brain injury (mTBI) during tasks of working memory and inhibitory control, both of which are vulnerable to impairment following mTBI. Thirteen children with symptomatic mTBI and a group of controls completed a version of the Tasks of Executive Control (TEC) during fMRI scanning. Both groups showed greater prefrontal activation in response to increased working memory load. Activation patterns did not differ between groups on the working memory aspects of the task, but children with mTBI showed greater activation in the posterior cerebellum with the addition of a demand for inhibitory control. Children with mTBI showed greater impairment on symptom report and “real world” measures of executive functioning, but not on traditional “paper and pencil” tasks. Likewise, cognitive testing did not correlate significantly with imaging results, whereas increased report of post-concussive symptoms were correlated with increased cerebellar activation. Overall, results provide some evidence for the utility of symptom report as an indicator of recovery and the hypothesis that children with mTBI may experience disrupted neural circuitry during recovery. Limitations of the study included a small sample size, wide age range, and lack of in-scanner accuracy data. (JINS, 2011, 17, 1143–1152)

In this paper, turbocharger centrifugal compressors with dual volute design were investigated by using Computational Fluid Dynamics (CFD) method. The numerical simulation focused on the air flow from compressor impeller inlet to volute exit, and the overall performance level and range are predicted. The numerical investigation revealed that the dual volute design could separate the compressor into two operating regions: “high efficiency” and “low efficiency” regions with different air flow characteristics, and treating these two regions separately with dual diffuser design showed extended stable operating range and improved efficiency by comparing with conventional single volute design. The “dual sequential volute” concept also showed the potential to further extend the stable operating range by closing one of the volutes at low air flow rates. Furthermore, by comparing with other alternate designs such as variable diffuser vanes and variable inlet guide vanes, the operation of the dual sequential volute also features relatively simple control and calibration.

In this study, the performance of a turbocharger compressor system for light-duty diesels, encompassing the airflow geometry from impeller inlet to volute exit, has been simulated numerically, and the effects of variable diffuser vane angles on the compressor performance and operating range have been investigated. It is found that the angle of the diffuser vane has significant influence on the compressor operating range, and optimized design of the variable diffuser vane angle can increase the stable operating range and improve the compressor efficiency significantly when compared with fixed diffuser vane angles and vaneless designs. However, changing the diffuser vane angle alone may not achieve the full control of the operating range of a compressor desired. Other technologies (e.g. variable inlet guide vanes, casing treatment, or optimum impeller design) may also be necessary to achieve the widest operating range required.

Sunitinib inhibits numerous tyrosine kinase receptors involved in tumor growth, angiogenesis, and metastatic invasion. It is indicated in case of metastatic renal carcinomas and gastrointestinal stromal tumors (GIST) resistant to imatinib. Prospective and retrospective studies have shown association between use of sunitinib and hypothyroidism affecting more than 50% of patients in some series. More amazing, was the non-visualisation of thyroid tissue evaluated with thyroid ultrasonography in two cases. Mechanisms of this side effect are not elucidated. Some studies have suggested destructive thyroiditis but no evidence of autoimmunity has been demonstrated. Anti angiogenic effect could be another hypothesis. Recently antithyroperoxidase activity of sunitinib has been demonstrated. Because hypothyroidism is easily accessible to treatment, screening of thyroid abnormalities is mandatory every three months to improve quality of life of these patients. This unique thyroid side effect of sunitinib with the non-visualisation of thyroid suggests a possible and promising antitumor activity in thyroid cancer.

Hypothalamic-pituitary (HP) sarcoidosis has 2 main endocrine manifestations: diabetes insipidus and hyperprolactinemia. We conducted the current study to investigate pituitary dysfunction and perform imaging of the HP area in patients both immediately following diagnosis and after treatment. The study included 6 men and 3 women, with a mean age of 30 years at the onset of sarcoidosis. All patients had both hormonal and magnetic resonance imaging (MRI) HP disorders. All patients had anterior pituitary dysfunction, 7 of them with associated diabetes insipidus. Nine patients had gonadotropin deficiency and 3 had hyperprolactinemia. MRI revealed infundibulum involvement in 5 patients, pituitary stalk thickness abnormality in 5, and involvement of the pituitary gland in 2, associated with other parenchymal brain or spinal cord lesions in 6 patients. All patients had multiple localizations of sarcoidosis, and 5 had histologically confirmed sinonasal localizations. Mean follow-up of the HP disorder was 7.5 years. All patients received prednisone. There was no correlation between the number of hormonal dysfunctions and the area of the HP axis involved as assessed by MRI. Although corticoid treatment was associated with a reduction of radiologic lesions, only 2 patients had partial recovery of hormonal deficiency. In conclusion, hormonal deficiencies associated with HP sarcoidosis frequently include hypogonadism (all patients) and to a lesser degree diabetes insipidus (7 of 9 patients). MRI abnormalities improved or disappeared in 7 cases under corticosteroid treatment, but most endocrine defects were irreversible despite regression of the granulomatous process. Most cases presented with multivisceral localizations and an abnormally high proportion of sinonasal localizations.

The evidence-based approach derived from the health care and medicine disciplines is the explicit and rational use of current best evidence in making decisions about the care of individuals and the population. At present, new technology may enter directly into the people care service without evaluation and without the evidence-based approach. Knowledge and evaluation bypasses will delay the time to market for a rapid and systematic routine use of innovations. Decision making about the purchase of equipment is more problematic when there is less evidence available or when this evidence is of poor quality, because there is no demonstration of efficacy and costeffectiveness before the introduction of new technology. Information and communication technology (ICT) solutions aim to improve health care providers, professional and informal carers, decision makers, and all stakeholders in the field of elderly care. Implementing knowledge and experiences from the medical research and health care fields, we propose some CoNTeNTS Introduction 88 Rationale for an Elderly-Centered ICT Evidence-Based Practice 89 The Concept of Ageing 89 Concept of the Person-Centered Approach 90 Elderly Ecosystem 91 Evidence-Based Practice 94 Appraisal of Evidence-Based Practice 94 Evidence-Based Approach 94 Tracking Down the Evidence: The Value of Information 95 Levels of Evidence 96 Example of Low Evidence: Do We Answer to Carers’ Unmet Needs? 96 Example of High Evidence: Preventing Falls 97 Evidence-Based Practice for AAL Solutions 98 Implementing Best Evidence Practices in AAL Solutions: Guidelines Needed 99 Elderly ICT Ecosystem: An Evidence-Based Approach Proposal for the Future 100 Conclusion 101 References 102 © 2015 by Taylor & Francis Group, LLC 88 Ambient Assisted Living recommendations for an evidence-based approach in gerontotechnology and ICT solutions. The final outcomes of any intervention in the elderly population would ensure well-being and good health and the improvement of quality of life by respecting the autonomy of a potentially frail and vulnerable population. Besides the technology development of ICT solutions, an evidencebased approach including a clinical research–like program would be necessary. Translational research using models from the health care and medicine disciplines will provide added value and also help to spread the use of cost-effective ICT solutions in the elderly. A call to action implementing evidence-based practice into ambient assisted living (AAL) organization and call procedures may be challenging. Let us hope that our desire to use it for the good of the person is stronger than the temptation to use it for our own convenience.

Although the need for rehabilitation services for cancer patients has been known for decades, many individuals with cancer still do not receive appropriate rehabilitation therapies during the course of their care. This has become particularly important for survivors of childhood cancer. As improvements have been made in treatment and mortality rates are decreasing, there are more survivors living with the long term or “late effects” of the cancer and its treatments. Late effects often impact the central nervous system and can impact skills such as mobility, activities of daily living, general physical activity, swallowing, speech production, and cognitive functioning. The focus of this chapter will be on introducing the need for rehabilitation services in this population, a review of some of the common issues that impact physical and speech-language functioning, and tips for when professionals may consider a referral for physical, occupational, or speech-language therapies.

International audience; Glutamic acid decarboxylase antibodies (GAD-abs) are an immunological factor involved in type 1 diabetes and other diseases involving the central nervous system. This report is of a patient with type 1 diabetes and a rare case of non-paraneoplastic limbic encephalitis mediated by anti-GAD65 antibodies that improved with the use of immunosuppressive drugs.

Aplasia cutis congenita (ACC) is alleged to be a side effect of antithyroid therapy during pregnancy. This occurrence is uncommon. Only 24 cases have been reported in the literature. In France, there has been no report by the National Center of Pharmacovigilance since 1985. We report a 39-year-old woman with no significant past history in whom Graves disease developed without eye symptoms. She was using methimazole 60 mg daily for 3 months, followed-up by propylthiouracil until delivery. At birth, the newborn had a scalp defect on the vertex, measuring 7- × 2-cm, transient hypothyroidism, and a dysmorphic syndrome (flat face, low-set ears, upper lip retraction, xiphoid funnel, finger-like claws, and low-set fifth finger). At age 1 year, the aplasia cutis was treated surgically. Aplasia cutis is a rare disorder, sometimes associated with other malformations. The mothers with hyperthyroidism who delivered children with reported cases of ACC have used either carbimazole or its active metabolite, methimazole, during early pregnancy. The relationship between methimazole or carbimazole therapy during pregnancy and ACC in the newborn remains to be proven. Nevertheless, to the authors’ knowledge, no case has occurred in which the mother has used only propylthiouracil. Therefore, consideration should be given to the exclusive use of propylthiouracil in pregnancy.

Idiopathic CD4 T lymphocytopenia (ICL) is a rare and severe condition with limited available data. We conducted a French multicenter study to analyze the clinical and immunologic characteristics of a cohort of patients with ICL according to the Centers for Disease Control criteria. We recruited 40 patients (24 female) of mean age 44.2 ± 12.2 (19–70) years. Patients underwent T-lymphocyte phenotyping and lymphoproliferation assay at diagnosis, and experiments related to thymic function and interferon (IFN)-γ release by natural killer (NK) cell were performed. Mean follow-up was 6.9 ± 6.7 (0.14–24.3) years. Infectious, autoimmune, and neoplastic events were recorded, as were outcomes of interleukin 2 therapy. In all, 25 patients had opportunistic infections (12 with human papillomavirus infection), 14 had autoimmune symptoms, 5 had malignancies, and 8 had mild or no symptoms. At the time of diagnosis, the mean cell counts were as follows: mean CD4 cell count: 127/mm3 (range, 4–294); mean CD8: 236/mm3 (range, 1–1293); mean CD19: 113/mm3 (range, 3–547); and mean NK cell count: 122/mm3 (range, 5–416). Most patients had deficiency in CD8, CD19, and/or NK cells. Cytotoxic function of NK cells was normal, and patients with infections had a significantly lower NK cell count than those without (p = 0.01). Patients with autoimmune manifestations had increased CD8 T-cell count. Proliferation of thymic precursors, as assessed by T-cell rearrangement excision circles, was increased. Six patients died (15%). CD4 T-cell count

BACKGROUND Medullary thyroid carcinoma is a rare tumour derived from the thyroid parafollicular calcitonin-secreting cells. Calcitonin is a very specific marker of this cancer that allows preoperative diagnosis. Serum calcitonin assay is particularly useful to define the postoperative state of patients (cured, apparently cured, not cured) and, because of its great sensitivity, it has a major place in the postoperative follow-up. OBJECTIVE To identify, among patients thyroidectomized for medullary thyroid carcinoma (MTC), the characteristics of authentic recurrent MTC [re-elevation of stimulated serum calcitonin (CT) level measured by a sensitive immunoradiometric assay, after postoperative normalization]. PATIENTS AND METHODS We first collected, through the national registry of the French Calcitonin Tumour Study Group (GETC), patients who had undergone a total thyroidectomy with or without lymph node surgery and who were not cured at the last follow-up visit. Among 453 such patients included in the database, 15 patients met the criteria for authentic recurrence as defined in previous studies: they had been first considered as cured during the 6 months following the initial surgical procedure (basal and pentagastrin-stimulated serum calcitonin level ≤ 10 ng/l) but had a secondary rerise of their pentagastrin-stimulated calcitonin level, over 10 ng/l. Eight of them even had an undetectable (

During recent decades, undeniable progress has been made with regard to the management of arterial hypertension. Larger numbers of patients are aware they have hypertension, receive treatment and benefit from this therapy. Furthermore, significant reductions have been observed in morbidity and mortality resulting from cardiovascular diseases. The objectives of hypertension treatment have been formulated on the basis of results of extensive epidemiological studies. Only a few patients receiving monotherapy actually achieve and maintain acceptable blood pressure levels. The complex pathogenesis of essential hypertension, the implications of nervous and humoral counter-regulatory effects, the heterogeneous character of individual responses to any given class of antihypertensive treatment and the onset of adverse effects all account for these failures. The search for a simple, effective and well-tolerated treatment based on a low dose combination of 2 classes of antihypertensive agents is consequently legitimate. The fixed combination of atenolol 50 mg and sustained release nifedipine 20 mg enables patients to benefit from the antihypertensive synergy of a beta-blocker and a calcium antagonist (dihydropyridine). Several open-ended or double-blind, controlled studies have shown that this combination produces a more marked antihypertensive effect than the individual components used alone or other reference monotherapies. Furthermore, it has been shown that this effect persists throughout the entire 24-hour period; this has been confirmed by 24-hour blood pressure monitoring. Short and medium term tolerability is significantly improved: the side effects commonly associated with the 2 drugs when used alone are reduced with the combination formulation since the 2 active substances have different and complementary mechanisms of action. In addition, long term studies have shown that therapeutic efficacy and tolerability remain stable and have even been seen to improve over a 12-month period. The fixed combination of atenolol-nifedipine has a role in strategies for the treatment of mild to moderate hypertension, particularly under the following conditions: when first-line monotherapy has failed to attain specific clearly defined objectives, including stabilised blood pressure levels together with acceptable tolerability. when patient compliance is jeopardised as a result of undesirable side effects. when the vascular burden is aggravated through lack of attention to individual risk factors in hypertensive patients. In more serious forms of hypertension, the atenolol-nifedipine combination can replace sequential monotherapies or other combination treatments that have failed to comply with the various criteria of therapeutic efficacy. Controlling arterial hypertension commonly requires polytherapy with 3 or even 4 different drugs in conjunction with particularly strict rules governing hygiene and diet. The addition of the fixed combination of atenolol-nifedipine simplifies the treatment of patients with arterial hypertension by limiting the daily doses and reducing laboratory monitoring.

This study assessed the effect of a fixed combination of nifedipine sustained release (SR) 20 mg + atenolol 50 mg on the blood pressure values of partial responders to treatment with a calcium channel blocker. Sixty hypertensive patients who had a diastolic blood pressure (DBP) >90 mm Hg throughout a period of monotherapy with a calcium channel blocker were included in the trial. After a 2-week run-in period with nifedipine SR 20 mg twice daily, 53 patients were randomly assigned to receive either the fixed combination nifedipine SR 20 mg + atenolol 50 mg once daily or nifedipine SR 20 mg twice daily. Mean systolic blood pressure was significantly lower (148 ± 13 mm Hg vs 156 ± 14 mm Hg) at 12 hours postdose in the combination group than in the nifedipine-only group. Responder patients (DBP

The requirements for higher fuel economy and better diesel and gasoline engines demand a wider range in turbocharger compressor operation. Ported shroud compressor housing is one of the most commonly used techniques for compressor map width enhancement. Although the general mechanism of such a flow feature is well understood, there are no readily available design tools to guide the engineers at the preliminary design stage. Designers have had to rely on three-dimensional (3D) CFD tools to sort out many design variables, but these tools can be prohibitively expensive. This paper explains how to develop a ported shroud compressor model on top of a commercial meanline compressor design program. The model considers some basic parameters, such as bleed location and geometry, which drive the recirculation or bypass flow through the bleed channel. The effects of the secondary flow on the compressor performance, such as pressure rise, efficiency, and stall and choke margins are also analyzed. The model prediction is validated with CFD simulation and test data.

Human immunodeficiency virus (HIV) infection and protease inhibitor (PI)-based antiretroviral treatment might increase large artery (aortic) stiffness compared with healthy untreated controls. To clarify the role of PI therapy in the progression of subclinical arteriosclerosis in patients with HIV, we investigated the impact of PI treatment on arterial stiffness.In our single-centre, cross-sectional study, normotensive male HIV patients free from overt cardiovascular disease received PI treatment (n=60) or no PI treatment (n=42). The PI group had a significantly higher pulse wave velocity (PWV) than the PI-free group (9.0 ± 1.4 vs. 8.1 ± 1.3m/s; P=0.016). There was a significant positive correlation between age and PWV in the PI-free group (R(2) 0.310; P0.0001) and, to a lesser extent, in the PI group (R(2) 0.181; P0.0001). PI treatment was associated with a significant increase in the adjusted slope of the curve relating age to PWV as compared with no PI treatment.In normotensive HIV patients, PI treatment significantly increases both aortic stiffness and the positive correlation between PWV and age. Aortic stiffness predicts cardiovascular mortality, thus these results provide new insight on the relationship between PI treatment, mechanical arteriosclerotic and cardiovascular risk.

The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.

The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC’s accomplishments over the first six years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies.

Inborn errors of urea synthesis lead to an accumulation of ammonia in blood and brain, and result in high rates of mortality and neurodevelopmental disability. The current study seeks to characterize the cognitive, adaptive, and emotional/behavioral functioning of children with Urea Cycle Disorders (UCDs). These domains were measured through testing and parent questionnaires in 92 children with UCDs (33 neonatal onset, 59 late onset). Results indicate that children who present with neonatal onset have poorer outcome than those who present later in childhood. Approximately half of the children with neonatal onset performed in the range of intellectual disability (ID), including a substantial number (~30%) who were severely impaired. In comparison, only a quarter of the late onset group were in the range of ID. There is also evidence that the UCD group has difficulties in aspects of emotional/behavioral and executive skills domains. In conclusion, children with UCDs present with a wide spectrum of cognitive outcomes. Children with neonatal onset disease have a much higher likelihood of having an intellectual disability, which becomes even more evident with increasing age. However, even children with late onset UCDs demonstrate evidence of neurocognitive and behavioral impairment, particularly in aspects of attention and executive functioning.

Churg-Strauss syndrome (CSS) is a systemic disease characterized by asthma, blood and tissue eosinophilia, and necrotizing vasculitis with extravascular eosinophilic granulomas.We describe two cases of patients with CSS: a 56-year-old man, whose presentation was highly unusual because its initial predominant manifestation was odynophagia, and a 35-year-old man whose disease was diagnosed after a work-up because of nausea, vomiting and abdominal pain. In both cases, thoracic computerized tomography scans showed congestive esophagitis with a markedly thickened esophageal wall at diagnosis and at relapse. Both the vasculitis and the esophageal involvement improved with treatment.Gastrointestinal (GI) involvement is frequent in CSS patients and is one of the major causes of death associated with CSS. Nonetheless, eosinophilic vasculitis-related esophagitis is very rare.

To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl phosphate synthase 1 (CPSD), ornithine transcarbamylase (OTCD), argininosuccinate synthase (ASD), or argininosuccinate lyase (ALD).Clinical, biochemical, and neuropsychological data from 103 subjects with neonatal-onset UCDs were derived from the Longitudinal Study of Urea Cycle Disorders, an observational protocol of the Urea Cycle Disorders Consortium, one of the Rare Disease Clinical Research Networks.Some 88% of the subjects presented clinically by age 7 days. Peak ammonia level was 963 μM in patients with proximal UCDs (CPSD or OTCD), compared with 589 μM in ASD and 573 μM in ALD. Roughly 25% of subjects with CPSD or OTCD, 18% of those with ASD, and 67% of those with ALD had a "honeymoon period," defined as the time interval from discharge from initial admission to subsequent admission for hyperammonemia, greater than 1 year. The proportion of patients with a poor outcome (IQ/Developmental Quotient70) was greatest in ALD (68%), followed by ASD (54%) and CPSD/OTCD (47%). This trend was not significant, but was observed in both patients aged4 years and those aged ≥ 4 years. Poor cognitive outcome was not correlated with peak ammonia level or duration of initial admission.Neurocognitive outcomes do not differ between patients with proximal UCDs and those with distal UCDs. Factors other than hyperammonemia may contribute to poor neurocognitive outcome in the distal UCDs.

Objective : Intravenous pentamidine induces hypo- and hyperglycaemia (dose-dependent toxicity on islet β cells), pancreatitis and nephrotoxicity. Conversely, aerosolized pentamidine (AP) is usually devoid of systemic side-effects : few reports of hypo- or hyperglycaemia have been published. Our study aimed to assess the influence on glucose homeostasis and insulin secretion of long-term exposure to AP used for prophylaxis of Pneumocystis carinii pneumonia in HIV-positive patients, and to compare the impact on insulin secretion of AP, whether administered for the first time or after prolonged monthly exposure. Design : Retrospective cross-sectional controlled study (main objective) and non-randomized prospective controlled study. Patients : We compared glucose homeostasis and C peptide response to 1 mg intravenous glucagon in patients who had previously inhaled ≥10 prophylactic aerosols (group 1, n = 21) and in HIV-positive controls (groups 2 and 3, n = 28) who had received none. Both groups were comparable for age and body-mass index, but CD4 T-lymphocyte counts and Karnofsky scores were both significantly higher in the control group. Results : Fasting (T 0 ) blood glucose, fructosamine and response to the first glucagon test were similar in both groups, but postprandial glucose, glycated haemoglobin and fasting C peptide were significantly higher (P

To the Editor: Vaccination with hepatitis B recombinant vaccine has few serious side effects1 (about 1 per 100,000 doses administered). Some cases of vasculitis have been reported.2 We report two c...

We describe 16 patients with HIV-associated nephropathy. 8/16 had heavy proteinuria and a morphologic pattern of focal segmental glomerulosclerosis on renal biopsy. Only half of them had Sida. Despite Retrovir and ACE inhibitors 5/8 died, 2 of them as a consequence of progressive renal failure. One patient, only lightly immunodepressed, had IgA nephropathy without renal insufficiency. 8/16 had tubulo-interstitial nephropathy or glomerulonephritis associated with opportunistic infections or drugs.

The objective of this study (in 27 patients) was to assess whether 4 hours of ambulatory blood pressure measurements during daytime (between 10 am and 7 pm) could represent complete daytime and 24 hour pressures accurately. The mean blood pressure 4 hours span differed only from daytime reading by

A 17 years old 46 XX woman presented with a hypergonadotrophic amenorrhea after a normal puberty at 11. Coelioscopy and histology revealed atrophic ovaries. Her mother had been treated for multiple sclerosis with chlorambucil 4 mg b.d. before and during pregnancy. Seven cases of treatment with chlorambucil during pregnancy have been reported showing two cases of foetal unilateral renal agenesis. A longitudinal survey would be useful to assess the fertility of the offsprings of patients treated with immunosuppressants during pregnancy.

We observed 34 tuberculosis in 470 patients infected by HIV (7,2 %). In 218 african there was 25 tuberculosis (19,5 %) but only 9 (2,6 %), all with SIDA, in 342 european and north african people. In 24 patients, tuberculosis was predominantly pulmonary and in 8 extra pulmonary or disseminated. Mycobacteria was isolated in 28 patients mainly from sputum and lymph nodes (only one resistant to INH). Standart drug regimens were effective in 76 %. 2 relapses were seen, 1 because inobservance, the other one year later during the course of SIDA. 8 patients (18 %) died from other opportunistic infections or terminal outcome of SIDA. Tuberculin skin test were positive in 18 (62 %) with median CD4 count = 260/mm3. In non tuberculous patients, only 15/436 had positive skin test, all of them with CD4 > 450/mm3.

We report three cases of SIDA with thromboembolism and Protein S (PS) deficiency associated for one of them with antiphospholipid syndrome, during VIH encephalopathy, cerebral toxoplasmosis or lymphoma. Then after, we began a prospective study of haemostasis in 30 patients (12 SIDA-18 ARC) without thrombosis. 27 had a free PS deficiency without correlation with C4 BP. Total PS was normal. Lupus anticoagulant or anticardiolipids were present in 13, all of them with PS deficiency. Same results were observed in ARC and SIDA.

Elevated CEA levels should lead to determination of serum CT concentrations (especially if cervical adenopathy is present), even in patients who present no thyroid abnormality, since it may be the first way of discovery of medullary thyroid carcinoma.

The Association of active lupus erythematosus with severe thyrotoxicosis and autoimmune diabetes is uncommon, even if thyroid abnormalities are sometimes reported among patients with lupus. In the case report, the investigation of HLA Dr related susceptibility for autoimmune diseases was negative.