X-linked icthyosis. A sulphatase deficiency.

In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity. In all three children the skin showed the same enzyme deficiency. In the skin of 9 other unrelated (adult) patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C activity was deficient. Skin from 5 normal adults and 5 normal children showed arylsulphatase C activity to be present. It is concluded that a sulphatase deficiency is a factor in the causation of ichthyosis of the X-linked inherited type.     

Corticosteroid avoidance in adult kidney transplant recipients under rabbit anti‐T‐lymphocyte globulin,mycophenolate mofetil and delayed cyclosporine microemulsion introduction

We conducted the first prospective, randomized, open‐label multicenter study in low‐immunologic risk adult recipients of primary cadaver kidney transplants receiving rabbit anti‐T‐lymphocyte globulin, mycophenolate mofetil, cyclosporine microemulsion introduced on day 5, with and without corticosteroids. Patients were randomly assigned according to age and cold ischemia time to receive corticosteroids for at least 6 months or no corticosteroids at all. The main efficacy evaluation criterion was acute rejection (including all treated episodes and those biopsy‐confirmed) during the first year following transplantation. For this purpose, this report includes the actual results of the whole 12‐month follow‐up of all randomized patients. For efficacy analysis, 98 patients were evaluated in the Steroid avoidance group and 99 in the Steroid maintenance group. Taken as a whole, 81% of the patients (n = 159) never received anti‐rejection treatment. From the 38 patients who received anti‐rejection treatment, 25 (25.5%) were in the Steroid avoidance group and 13 (13.1%) in the Steroid maintenance group (P < 0.031), experiencing respectively 17 (17.3%) and 7 (7.1%) biopsy‐proven first episodes of acute rejection (P < 0.031). Borderline changes (6 vs. 3) were not considered as biopsy‐proven acute rejections. Onset of first rejection was significantly shorter in the Steroid avoidance group (P < 0.027). First‐line anti‐rejection treatment response, need for any rescue therapy, as well as histologic severity of rejection episodes did not statistically differ between the groups. One‐year post‐transplantation analysis showed no differences in delayed graft function, serum creatinine, creatinine clearance, 24‐h proteinuria, as well as serious adverse events between the groups. De novo diabetes (P < 0.07) or dyslipidemia (P < 0.01) as well as newly diagnosed malignancies (P < 0.059) were however more frequently observed in the Steroid maintenance group. At the end of the first post‐transplant year, 99% of patients in the Steroid avoidance group and 97% of patients in the Steroid maintenance group were respectively alive (P = 0.34), with respectively 95% and 93.2% of functioning kidney grafts (P = 0.62). Our results showed that total avoidance of corticosteroids from the day of transplantation was associated with a significantly increased number of clinically diagnosed and treated, and biopsy‐proven acute rejections during the first year of transplantation. Nevertheless, overall outcome, 1‐year patient and graft survival as well as renal function were similar, and the patients in the Steroid avoidance group exhibited a lower incidence of de novo dyslipidemia, diabetes mellitus and malignancies often associated with steroid treatment (Clinical Trials.gov NCT00200551).     

Prognostic relevance of clinical and molecular risk factors in children with high-risk medulloblastoma treated in the phase II trial PNET HR+5

BackgroundHigh-risk medulloblastoma is defined by the presence of metastatic disease and/or incomplete resection and/or unfavorable histopathology and/or tumors with MYC amplification. We aimed to assess the 3-year progression-free survival (PFS) and define the molecular characteristics associated with PFS in patients aged 5–19 years with newly diagnosed high-risk medulloblastoma treated according to the phase II trial PNET HR+5.MethodsAll children received postoperative induction chemotherapy (etoposide and carboplatin), followed by 2 high-dose thiotepa courses (600 mg/m²) with hematological stem cell support. At the latest 45 days after the last stem cell rescue, patients received risk-adapted craniospinal radiation therapy. Maintenance treatment with temozolomide was planned to start between 1–3 months after the end of radiotherapy. The primary endpoint was PFS. Outcome and safety analyses were per protocol (all patients who received at least one dose of induction chemotherapy).ResultsFifty-one patients (median age, 8 y; range, 5–19) were enrolled. The median follow-up was 7.1 years (range: 3.4–9.0). The 3 and 5-year PFS with their 95% confidence intervals (95% CI) were 78% (65–88) and 76% (63–86), and the 3 and 5-year OS were 84% (72–92) and 76% (63–86), respectively. Medulloblastoma subtype was a statistically significant prognostic factor (P-value = 0.039) with large-cell/anaplastic being of worse prognosis, as well as a molecular subgroup (P-value = 0.012) with sonic hedgehog (SHH) and group 3 being of worse prognosis than wingless (WNT) and group 4. Therapy was well tolerated.ConclusionsThis treatment based on high-dose chemotherapy and conventional radiotherapy resulted in a high survival rate in children with newly diagnosed high-risk medulloblastoma.     

Reduced physical activity level and cardiorespiratory fitness in children with chronic diseases

We aimed to compare physical activity level and cardiorespiratory fitness in children with different chronic diseases, such as type 1 diabetes mellitus (T1DM), obesity (OB) and juvenile idiopathic arthritis (JIA), with healthy controls (HC). We performed a cross-sectional study including 209 children: OB: n = 45, T1DM: n = 48, JIA: n = 31, and HC: n = 85. Physical activity level was assessed by accelerometer and cardiorespiratory fitness by a treadmill test. ANOVA, linear regressions and Pearson correlations were used. Children with chronic diseases had reduced total daily physical activity counts (T1DM 497 ± 54 cpm, p = 0.003; JIA 518 ± 28, p < 0.001, OB 590 ± 25, p = 0.003) and cardiorespiratory fitness (JIA 39.3 ± 1.7, p = 0.001, OB 41.7 ± 1.2, p = 0.020) compared to HC (668 ± 35 cpm; 45.3 ± 0.9 ml kg⁻¹ min⁻¹, respectively). Only 60.4% of HC, 51.6% of OB, 38.1% of JIA and 38.5% of T1DM children met the recommended daily 60 min of moderate-to-vigorous physical activity. Low cardiorespiratory fitness was associated with female gender and low daily PA. Conclusion: Children with chronic diseases had reduced physical activity and cardiorespiratory fitness. As the benefits of PA on health have been well demonstrated during growth, it should be encouraged in those children to prevent a reduction of cardiorespiratory fitness and the development of comorbidities.     

Effects of Fecal Microbiota Transplantation on Composition in Mice with CKD

Background: Chronic kidney disease (CKD) is a renal disorder characterized by the accumulation of uremic toxins with limited strategies to reduce their concentrations. A large amount of data supports the pivotal role of intestinal microbiota in CKD complications and as a major source of uremic toxins production. Here, we explored whether fecal microbiota transplantation (FMT) could be attenuated in metabolic complication and uremic toxin accumulation in mice with CKD. Methods: Kidney failure was chemically induced by a diet containing 0.25% (w/w) of adenine for four weeks. Mice were randomized into three groups: control, CKD and CKD + FMT groups. After four weeks, CKD mice underwent fecal microbiota transplantation (FMT) from healthy mice or phosphate buffered saline as control. The gut microbiota structure, uremic toxins plasmatic concentrations, and metabolic profiles were explored three weeks after transplantation. Results: Associated with the increase of alpha diversity, we observed a noticeable improvement of gut microbiota disturbance, after FMT treatment. FMT further decreased p-cresyl sulfate accumulation and improved glucose tolerance. There was no change in kidney function. Conclusions: These data indicate that FMT limited the accumulation of uremic toxins issued from intestinal cresol pathway by a beneficial effect on gut microbiota diversity. Further studies are needed to investigate the FMT efficiency, the timing and feces amount for the transplantation before, to become a therapeutic option in CKD patients.     

Don't let the suffering make you fade away: An ethnographic study of resilience among survivors of genocide-rape in southern Rwanda

Rape has been used in contemporary armed conflicts to inflict physical, psychological, cultural and social damage. In endeavoring to address the psychological damage of collective violence, some researchers and global health practitioners are turning toward post-conflict mental health promotion approaches that centrally feature resilience. Though previous findings from resilience and coping research are robust, few studies have actually investigated resilience among genocide-rape survivors in cultural context in non-Western settings. This paper presents ethnographic data gathered over 14 months (September 2005 to November 2006) in southern Rwanda on resilience among genocide-rape survivors who were members of two women's genocide survivor associations. Study methods included a content analysis of a stratified purposive sample of 44 semi-structured interviews, as well as participant-, and non-participant-observation. Resilience among genocide-rape survivors in this context was found to be shaped by the cultural-linguistic specific concepts of kwihangana (withstanding), kwongera kubaho (living again), and gukomeza ubuzima (continuing life/health), and comprised of multiple sociocultural processes that enabled ongoing social connection with like others in order to make meaning, establish normalcy, and endure suffering in daily life. The results of this research show that the process of resilience among genocide-rape survivors was the same regardless of whether genocide survivor association membership was organized around the identity of genocide-rape survivorship or the identity of widowhood. However, the genocide-rape survivors' association members were more involved with directing resilience specifically toward addressing problems associated with genocide-rape compared to the members of the genocide widows' association. The findings from this research suggest that ethnographic methods can be employed to support resilience-based post-conflict mental health promotion efforts through facilitating collective sexual violence survivors to safely socially connect around their shared experiences of rape, neutralizing social threats of stigma and marginalization.     

Epigallocatechin Gallate: A Review of Its Beneficial Properties to Prevent Metabolic Syndrome

Obesity and being overweight are linked with a cluster of metabolic and vascular disorders that have been termed the metabolic syndrome. This syndrome promotes the incidence of cardiovascular diseases that are an important public health problem because they represent a major cause of death worldwide. Whereas there is not a universally-accepted set of diagnostic criteria, most expert groups agree that this syndrome is defined by an endothelial dysfunction, an impaired insulin sensitivity and hyperglycemia, dyslipidemia, abdominal obesity and hypertension. Epidemiological studies suggest that the beneficial cardiovascular health effects of diets rich in green tea are, in part, mediated by their flavonoid content, with particular benefits provided by members of this family such as epigallocatechin gallate (EGCG). Although their bioavailability is discussed, various studies suggest that EGCG modulates cellular and molecular mechanisms of various symptoms leading to metabolic syndrome. Therefore, according to in vitro and in vivo model data, this review attempts to increase our understanding about the beneficial properties of EGCG to prevent metabolic syndrome.     

Cowpox Virus Transmission from Pet Rats to Humans, France

In early 2009, four human cases of cowpox virus cutaneous infection in northern France, resulting from direct contact with infected pet rats (Rattus norvegicus), were studied. Pet rats, originating from the same pet store, were shown to be infected by a unique virus strain. Infection was then transmitted to humans who purchased or had contact with pet rats.     

Prevalence of Psychoactive Substance Consumption in People With Obesity

Objective: The aim of this study was to evaluate the prevalence and the kind of psychoactive substances consumed by people with obesity. Methods: Patients were included at their first visit for bariatric surgery. Socio-demographic characteristics, anxiety, depressive disorders and psychoactive substance consumption were assessed. The prevalence of psychoactive substance consumption was compared to that of the general population reported by the French National Institute of Prevention and Health Education. Results: One hundred (100) patients were consecutively recruited: 60 women (mean age 41 ± 14 years) and 40 men (mean age 46 ± 13 years). Sixty-seven percent of subjects consumed alcohol. Consumption rates of cannabis (21% vs. 10%), cocaine (7.0% vs. 0.8%) and amphetamine (6.0% vs. 0.3%) were significantly (p < .0001) higher in people with obesity than in the general population. Conclusions: People with obesity have an excess risk of amphetamine, cocaine and cannabis consumption. This consumption may increase the risk of cardiovascular and psychiatric morbidity and should therefore be detected before surgery.