Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

BACKGROUND AND PURPOSE: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease. METHODS: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with elevated creatine kinase (CK). In all, 1226 patients underwent the non-ischaemic forearm exercise test. Blood lactate, ammonia and CK levels were analyzed. DNA analyses and/or muscle biopsies were assessed to confirm the diagnosis of McArdle's disease. The results of 60 volunteers were used to compare with the results of study subjects. RESULTS: In this cohort, 40 patients were finally diagnosed with McArdle's disease. Absolute values of lactate and ammonia rise were used to discriminate all McArdle patients from healthy patients. A sensitivity and specificity of respectively 100% and 99.7% were calculated. The 24-h CK level showed no significant difference from the CK level at the day of the test and confirms the safety of the test. CONCLUSIONS: This study has formally assessed the diagnostic value of the non-ischaemic forearm exercise test in the detection of McArdle's disease. Very high sensitivity and specificity were observed. Furthermore, the test is easy to set up and to perform, it is non-traumatic and cost effective. It may circumvent a muscle biopsy in McArdle patients presenting the most common mutations. Hence, it is a perfect and safe screening instrument to detect patients with McArdle's disease. Glycogen storage disease type III patients, however, may show similar patterns to McArdle patients.

Periodic salbutamol in facioscapulohumeral muscular dystrophy: a randomized controlled trial.

OBJECTIVE: To evaluate the effects on muscle strength of salbutamol administered for 6 months using a periodic regimen in patients presenting with facioscapulohumeral muscular dystrophy (FSHD). DESIGN: Placebo-controlled double-blind randomized study. SETTING: Three clinical centers involved in neuromuscular disorders. PARTICIPANTS: Ambulatory patients (N=112), 56 per group, with genetically confirmed FSHD, age 18 to 60 years. INTERVENTIONS: Salbutamol (sustained released formulation) administered orally at a daily dose of 16 mg using a periodic dosage regimen (3 wks on, 1 wk off). MAIN OUTCOME MEASURES: Muscle strength was assessed with quantitative muscle testing (QMT), manual muscle testing (MMT), and timed motor tests. Patients were evaluated at baseline, and 3 and 6 months later. Plasma drug assays were carried out at each visit. RESULTS: There was no significant change with periodic use of salbutamol in the total composite QMT z-score, MMT score, or timed motor tests. Salbutamol was well tolerated. Lack of efficacy did not seem to be related to plasma concentrations, which were within the expected range. CONCLUSIONS: Results from this study and previous controlled trials preclude at present the use of salbutamol as routine treatment for FSHD, even if we cannot exclude improvement from anabolic effects with a longer duration of treatment.

[Manual and quantitative muscle testing in neuromuscular disorders. How to assess the consistency of strength measurements in clinical trials?]. / Testing musculaire manuel et quantifié dans les maladies neuromusculaires. Comment assurer la qualité des mesures de force dans les protocoles cliniques?

Evaluation of functional capacities of patients suffering of neuromuscular disorders, particularly muscle strength, is a critical issue for their diagnosis and follow-up. Within the framework of the natural history of any given disease, such an evaluation may improve the clinician's knowledge of the pathophysiological processes involved, and may help to anticipate and sometimes prevent deleterious consequences as the disease progresses. It is also helpful for identifying correlation between the severity of organic damage and the functional impact of the disease. The measurement of functional capacities must be done with accuracy, sensitivity and reliability, essentially when used as an outcome measure for therapeutic trials. Several evaluation tools for measuring muscle strength are available. They are usually classified into two groups: manual muscle testing (MMT) methods and quantified muscle testing (QMT) methods. In this article, we present the principles of strength measurements, and the different tools and materials that are commonly used in clinical settings. Their limitations and drawbacks are illustrated through several examples. Although QMT is theoretically and potentially more consistent than MMT to precisely follow the muscle capacities of the patients, precise and robust procedures must be elaborated and validated for each tested muscle function. Strength measurements must be performed by trained and experimented clinical evaluators. This issue is critical in the follow up of multicentric therapeutic trials. Inter-rater reliability must be assessed to guarantee the statistical power of the trial.

[Intestinal schistosomiasis from Schistosoma mansoni in Madagascar: extent and center of the endemic]. / La schistosomose intestinale à Schistosoma mansoni à Madagascar: extension et focalisation de l'endémie.

Schistosoma mansoni and S. haematobium affect respectively 2 million and 500,000 persons in Madagascar. Over the past decade, S. mansoni has spread in the central Highlands of Madagascar, essentially throughout the mid-west and Antananarivo plain. To understand this recent change in the epidemiology of S. mansoni, we examined the relationship between its spatial distribution and several host factors, including labour migration, urbanization and water development projects. In the Highlands, the disease in distribution could be superimposed on the potential expansion areas of snail distribution defined in 1958. However, the distribution is not homogeneous, as for example the road between Betafo and Mandoto (South West of Antananarivo). This focal pattern described in other African countries is unique to the central Highlands of Madagascar. Rice cultivation is the main economic activity and is associated with intense water contact. The focal distribution may be related to an environmental adaptation of host-parasite interaction depending on behavioural patterns, water and soil chemistry and incompatibility between Biomphalaria pfeifferi and S. mansoni. It is also possible that these focal patterns precede homogeneous endemicity, as along the road Itasy-Tsiroanomandidy (west Antananarivo). Major water development carried out in this migration area led to a rapid endemization of the disease. In Befato-Mandoto, where soil management is more restricted, schistosomiasis due to S. mansoni seems to have been established in some foci where epidemiologic conditions are favourable (for example, traditional irrigation canals). In contrast, the spread of S. mansoni in the Antananarivo plain closely follows the settlement of an infected rural population. Epidemiologic surveys conducted on school children in the Antananarivo suburbs, where sanitary conditions are poor, showed a prevalence of 25%. Human migration linked to development projects and urbanization seems to be the principal factor associated with the spread of schistosomiasis in the mid-west area and Antananarivo plain. In the Highlands, the preferential exposure of adult labour migrants has contributed to the widening of the endemic area.

[Prevalence of toxoplasmosis in Tananarive. Study conducted at the Pasteur Institute of Madagascar (PIM) on a sample of 2354 subjects]. / Approche de la prévalence de la toxoplasmose à Tananarive. Etude réalisée à l'Institut Pasteur de Madagascar (IPM) sur un échantillonnage de 2354 sujets.

The prevalence of Toxoplasma antibodies was studied in 2,354 individuals in Tananarive, at the Institut Pasteur of Madagascar. The seroprevalence among the malagasy population amounts to 52.1%. At the age of 10 years old, 36.3% of our sample have already acquired toxoplasma antibodies, proving an early infection. No differences have been observed between sexes. The toxoplasmosis prevalence among the female population coming from France, India and Pakistan and living in Tananarive seemed the same than in their home countries, whereas female population coming from China had shown a different seroprevalence compared to their home country.

[Epidemiological study of Paragonimus sp. in south Cameroon]. / Etude épidémiologique d'une distomatose à Paragonimus sp. au sud-Cameroun.

A study was carried out in 1993 in south Cameroon in order to assess the changes in the incidence rate of human paragonimiasis, and to get information on the transmission pattern of Paragonimus sp. Two human cases have been recorded, and one dog was found infected in the Ntem Valley. The results suggest that a decrease of the incidence rate of paragonimiasis occurred in humans and animals. Paragonimus metacercariae were found in three species of freshwater crabs: Sudanonautes africanus, S. aubryi et S. granulatus, the latter being a new host. Prevalence of infection in crabs increased southerly, and significant seasonal changes were found. Two cats were infested with metacercariae from S. africanus, and studies are in progress to identify the parasite(s) at a specific level.

[Risk factors for human African trypanosomiasis in the Bipindi region of Cameroon]. / Recherche des facteurs de risque de la trypanosomose humaine africaine dans le foyer de Bipindi au Cameroun.

In the course of two surveys carried out at the end of 1998 and beginning of 1999, sleeping sickness was diagnosed in a total of 43 people in the Bipindi region of Cameroon. This observation led us to investigate the mechanisms of transmission of human African trypanosomiasis in the epicentrer of the outbreak. A case-control study showed a particularly high risk of infection associated with hunting activities (Odds-Ratio: 2.87; CI 95%: 0.96-9.52). Interpretation of this finding in the light of local geographical features and current entomological data suggests that the higher risk in hunters is linked to the presence of a perennial vector population and absence of domestic pigs.

[Human african trypanosomiasis: A history of its therapies and their failures]. / Trypanosomiase humaine africaine: histroique de la thérapeutique et de ses échecs.

This paper gives an overview of the treatment of Human African Trypanosomiasis from the early 20th century until today.

[Seroprevalence of rubella in pregnant women at Antananarivo. Study of 853 sera at the Pasteur Institute in Madagascar]. / Séroprévalence de la rubéole chez la femme enceinte à Antananarivo. Etude effectuée à l'Institut Pasteur de Madagascar sur 853 sérums.

The authors reported the results of a seroepidemiological study of rubella in pregnancy in Antananarivo at the Institut Pasteur de Madagascar. A total of 853 sera were tested using hemagglutination inhibition as reference method. Rubella antibodies were present in 80.5% of the malagasy pregnant women. These results seem quite similar to those observed from other tropical african countries. The rubella prevalences among the pregnant woman's population coming from France, India and Pakistan and living in Antananarivo (respectively, 89.8% and 81.8%) seem the same than in their home countries.