Effect of hydroxyurea exposure before puberty on sperm parameters in males with sickle cell disease.

Sperm parameters are known to be impaired in men with sickle cell disease (SCD). Although treatment with hydroxyurea (HU) has an impact on sperm quality, sperm preservation is impossible before puberty. This study's primary objective was to analyze and compare sperm parameters in male patients with SCD exposed (or not) to HU before puberty. Twenty-six sperm samples from 15 patients (median age, 17 years; range, 16-23) treated with HU during childhood were compared with 46 samples from 23 HU-naïve patients (20 years; 16-24). The median age at HU initiation was 6 years (1-14 years), the median duration of HU treatment was 4 years (0.5-10), and the mean dose of HU was 22.4 ± 3.7 mg/kg per day. Although we observed substantial quantitative and qualitative semen abnormalities in all patients, there were no significant differences in semen volume, sperm concentration, total sperm count, or spermatozoa motility, morphology, and vitality between the HU-exposed and HU-naïve groups. At the time of the semen analysis, 100% of the patients in the HU-exposed group and 52% of the patients in the HU-naïve group received transfusion therapy. The specific effect of HU on spermatogenesis in very young infants and the putative value of transfusion for reversing the toxicity of HU warrant further investigation.

[Expectation of patients and caregivers about patient education for immune thrombocytopenia]. / Attentes en éducation thérapeutique des patients atteints de purpura thrombopénique immunologique et des soignants.

INTRODUCTION: Immune thrombocytopenia (ITP) durably affects quality of life in patients. Patient education aims at improving their self-care and psychosocial skills, allowing them be more autonomous, to prevent avoidable complications, and to maintain or improve quality of life. The aim of this study was to assess patients' and caregivers' expectations regarding patient education in ITP. METHOD: ITP Patients and caregivers were asked about topics that should be addressed in a patient education program through a digital anonymous survey. Their responses were analyzed both qualitatively and quantitatively. A double-blind keyword attribution of the answers was carried out by two physicians and then faced until consensus was found. RESULTS: Thirty-eight ITP patients were included: 68% were less than 50 years old and 84% had chronic ITP. On the other hand, twenty-five caregivers were included. Caregivers raised more topics related to the cognitive domain than patients. The psychoaffective and motivational topics tended to be more represented in patients' responses. Only 53% of topics were mentioned by both patients and caregivers. CONCLUSION: These discrepancies emphasize the differences between patients and caregivers' expectations regarding a patient education program in ITP, and thus the relevance of patient-caregiver co-construction of such programs.

[Bilateral adrenal hemorrhage under apixaban in primary antiphospholipid syndrome]. / Nécrose hémorragique bilatérale des surrénales sous apixaban : penser au syndrome des antiphospholipides ?

INTRODUCTION: Adrenal hemorrhage is a classical but rare complication of antiphospholipid syndrome, revealing diagnosis in one third of the cases. Anti-vitamin K therapy is the standard treatment but direct oral anticoagulants are discussed as an alternative. In the latest recommendations, it is advised not to use direct oral anticoagulants in the setting of antiphospholipid syndrome. CASE REPORT: We present a case of bilateral adrenal hemorrhage revealing primary antiphospholipid syndrome with triple positive antibody profile, in a 47-year-old man treated by apixaban for previous venous thromboembolism. CONCLUSION: To our knowledge, it is the first case of adrenal hemorrhage occurring during apixaban treatment in a patient with antiphospholipid syndrome. This case illustrates the inefficacy of direct oral anticoagulants to prevent thrombotic events in antiphospholipid syndrome, in accordance with the latest recommendations.

[Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia]. / Maladie de Gaucher de type 1 simulant une thrombopénie immunologique : intérêt de l'hyperferritinémie et de l'hypergammaglobulinémie dans le bilan d'une thrombopénie isolée.

INTRODUCTION: Gaucher disease type 1 is a rare genetic disease. It can cause thrombocytopenia. Current guidelines do not support bone marrow examination in front of isolated thrombocytopenia if no evidence suggests malignant hemopathy. This strategy aiming at sparing unnecessary investigations makes such rare diseases more difficult to diagnose. CASE REPORT: A 31-year-old woman was diagnosed with immune thrombocytopenia according to current guidelines. She presented later with mild splenomegaly. Bone marrow aspirate smears showed Gaucher cells. Gaucher disease was then confirmed. Looking backward, initial biological clues (hyperferritinemia, hypergammaglobulinemia) should have enabled to consider the diagnosis. CONCLUSION: Gaucher disease type 1 can be responsible for apparently isolated thrombocytopenia. The disease must be looked for if the thrombocytopenia is associated with unexplained hypergammaglobulinemia or hyperferritinemia. Diagnosing immune thrombocytopenia without bone marrow sample requires to systematically pay attention to any clinical or biological abnormality, not to ignore rare differential diagnoses.

Landscape and climatic characteristics associated with human alveolar echinococcosis in France, 1982 to 2007.

Human alveolar echinococcosis (AE) is a severe hepatic disease caused by Echinococcus multilocularis. In France, the definitive and intermediate hosts of E. multilocularis (foxes and rodents, respectively) have a broader geographical distribution than that of human AE. In this two-part study, we describe the link between AE incidence in France between 1982 and 2007 and climatic and landscape characteristics. National-level analysis demonstrated a dramatic increase in AE risk in areas with very cold winters and high annual rainfall levels. Notably, 52% (207/401) of cases resided in French communes (smallest French administrative level) with a mountain climate. The mountain climate communes displayed a 133-fold (95% CI: 95-191) increase in AE risk compared with communes in which the majority of the population resides. A case-control study performed in the most affected areas confirmed the link between AE risk and climatic factors. This arm of the study also revealed that populations residing in forest or pasture areas were at high risk of developing AE. We therefore hypothesised that snow-covered ground may facilitate predators to track their prey, thus increasing E. multilocularis biomass in foxes. Such climatic and landscape conditions could lead to an increased risk of developing AE among humans residing in nearby areas.

Epidemiological investigation of a human leptospirosis case reported in a suburban area near Marseille.

Leptospirosis has been re-emerging in both developed and developing countries, including in Europe, where the phenomenon has notably been associated with urban transmission. In this work, we describe an epidemiological investigation that demonstrated a case of human infection due to peri-urban transmission of Leptospira interrogans serovar icterohaemorrhagiae in southeastern France.

Presence of sandflies infected with Leishmania infantum and Massilia virus in the Marseille urban area.

Leishmaniasis is considered a rural disease in Europe. However, circumstantial evidence has indicated urban transmission of leishmaniasis and phleboviruses in the urban area of Marseille, France. To investigate this urban transmission, sandflies were trapped in 33 locations in the urban area (horse farms, public gardens and a residential area). Sandflies were always captured: 87.8% were Phlebotomus perniciosus, a vector of Leishmania infantum and Toscana and Massilia viruses. RT-PCR and cell culture inoculation identified the Massilia virus in 2/99 pools of sandflies, and PCR identified Leishmania in 5/99. No dual infection was observed, but both pathogens were detected in samples from the same trapping site.

Cholera epidemics in 2010: respective roles of environment, strain changes, and human-driven dissemination.

The cholera burden has grown strikingly during the past 4 years, and has spread to countries previously spared by this disease. The current spread has proved especially violent, as illustrated by the recent deadly epidemics around the Lake Chad Basin, in East Africa, and in Haiti. This onset of severe cholera epidemics is part of the overall dynamic of the current seventh cholera pandemic, composed of successive epidemic waves. The current wave is attributable to new atypical El Tor strains, which spread from the Bay of Bengal to Papua in the east, Africa, and the Caribbean Sea in the west, and caused hundreds of thousands of cases and thousands of deaths during each of the last 4 years. The particular severity of the resulting epidemics is partially attributable to the specific characteristics of the atypical El Tor strain involved. Besides the abilty of El Tor to spread easily, this strain is associated with more severe clinical findings, because of elevated levels of toxin secretion resulting from a genetic content originating from classical strains. Conversely, recent studies of these deadly outbreaks raised hope by illustrating their relationship with human-borne dissemination rather than with the resurgence of environmental strains. As human-borne dissemination can be more easily targeted than ubiquitous environmental contamination, accurate and comprehensive epidemiological studies are essential to better understand the dynamics of the disease and to optimize future cholera responses.

Long-term ocular outcome in congenital toxoplasmosis: a prospective cohort of treated children.

OBJECTIVES: Congenital toxoplasmosis remains a public health problem throughout the world. Long-term longitudinal studies are still needed to argument controversial screening and treatment strategies and to enable to accurately counsel parents. METHODS: We conducted a prospective cohort study over 16 years in Marseilles, France. Seronegative pregnant women underwent monthly serological testing. Children were treated antenatally with rovamycine as soon as maternal infection was detected and with pyrimethamine and sulfadoxine in case of positive Toxoplasma PCR on amniotic fluid. Postnatal treatment with pyrimethamine and sulfadoxine was systematically prescribed for one year and possibly continued at the physician discretion. RESULTS: 127 children were included. 24 children (18.9%) presented ocular lesions causing visual impairment in eight cases. Eleven children (8.7%) presented with ocular lesions at birth, mostly macular. Sixteen children (12.6%) developed ocular lesions during follow-up, mostly peripheral. The first ocular lesion could occur as late as 12 years after birth. No significant risk factor of chorioretinitis was identified including gestational age at infection, type of antenatal treatment and shorter postnatal treatment. CONCLUSIONS: These results confirm the overall good prognosis of congenital toxoplasmosis in Europe but highlight though a low risk of late ocular manifestation. Chorioretinitis affected 18.9% of children suffering from congenital toxoplasmosis despite antenatal and neonatal screening associated with early treatment. Long-standing follow-up is needed because first lesion can occur as late as 12 years after birth. Late lesions were less often macular but nevertheless caused sometimes visual impairment.

Optimization of Toxoplasma gondii DNA extraction from amniotic fluid using NucliSENS easyMAG and comparison with QIAamp DNA minikit.

Antenatal diagnosis of congenital toxoplasmosis relies on PCR in amniotic fluid. Because parasitic load is often low, DNA extraction must be optimized. Manual methods remain widespread although automated methods appear more effective. This study aimed at optimizing an automated method and at comparing it with a widespread manual method: QIAamp DNA minikit. To optimize NucliSens easyMAG, we evaluated the addition of proteinase K pre-treatment and the increase of the amount of silica particles used for the extraction. The optimized method was then compared to QIAamp DNA minikit on samples containing less than 25 tachyzoites/ml. NucliSens easyMAG DNA yield was improved after proteinase K pre-treatment (p < 0.01), but not with a higher silica particle input. The optimized method yielded more positive PCRs than the manual method, especially for samples containing 5 tachyzoites/ml or less (71% vs 26%, p < 10(-4)). The DNA amount in samples found positive by PCR was higher after optimized automated extraction than after manual extraction (p < 10(-4)). Proteinase K pre-treatment should be added to extract DNA from amniotic fluid using NucliSens easyMAG. Using this optimized automated method rather than manual methods would improve the sensitivity of Toxoplasma PCR and simplify the daily workflow.

[Visceral leishmaniasis: an update]. / Actualités sur les leishmanioses viscérales.

During the last decade, visceral leishmaniasis has been reconsidered in its epidemiology and strategies for diagnosis, treatment and prevention. This vectorial disease, responsible for more than 50,000 deaths each year across India, East Africa, South America, the Mediterranean area, Central Asia and China, is currently spreading over new territories. This formerly rural disease has even reached cities in South America. This spreading is caused by environmental changes due to global warming or human activity, and by the movement of workers and refugees. As a consequence, the burden of HIV/Leishmania coinfection is increasing in many developing countries even though effective antiretroviral therapy has led to a marked decrease in its incidence in Europe. The disease is now handled differently than it was 10 years ago: PCR has become the most accurate tool for diagnosis and follow-up in developed countries, and field diagnostic tools have been developed (antigenuria, rK39 dipstick). While resistance to antimoniate has appeared in India and Europe, new therapies have been evaluated such as miltefosine, the first oral therapy, or short treatment with liposomal amphotericin B. In France, liposomal amphotericin B has supplanted antimoniate meglumine because of better tolerance and shorter hospitalization duration. Protecting dogs through immunization or collars impregnated with deltamethrin proved effective to prevent zoonotic leishmaniasis due to Leishmania infantum.

[Permanent deafness following typhoid fever: case report from Dakar, Senegal]. / Surdité définitive au décours d'une fièvre typhoïde une observation a Dakar (Sénégal).

Severe infections due to Salmonella typhi and Salmonella paratyphi are still common in sub-Saharan Africa where many patients are empirically treated for malaria. In addition to the usual clinical signs and complications of typhoid fever, clinicians practicing in high incidence areas must be aware of less common manifestations. The purpose of this report is to describe a case involving an 18-year-old boy who presented with quinine-resistant febrile coma. The final diagnosis was typhoid fever. After recovery the patient presented complete deafness. Discussion raises the question of whether deafness was secondary to typhoid fever or to drug therapy.