Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination. Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect. Patients and method: We have conducted a longitudinal and prospective study from January 2018 to December 2020. Patients with ARCA phenotype seen in the Department of Neurology at the Teaching Hospital of Point "G" were enrolled. Results: We have enrolled 7 families totaling 13 patients after giving an informed verbal and written consent. The sex ratio was 2.2 in favor of males, Kayes region and Fulani ethnic group were respectively the most represented region and ethnic group.Walking difficulty represented the major symptom followed by loss of vibration and joint sense, nystagmus, dysarthria and skeletal deformities. Alpha-foetoprotein level was high in one patient. Genetic testing confirmed Friedreich ataxia in one family and was not conclusive in 4 families. Conclusion: This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.

Introduction: Les ataxies cérébelleuses autosomiques récessives (ACAR) constituent un groupe de maladies neurodégénératives rares et hétérogènes caractérisées essentiellement par un trouble de l'équilibre et de la marche, et un trouble de la coordination des mouvements. Objectifs: Caractériser les signes cliniques, paracliniques et génétiques des ataxies cérébelleuses autosomiques récessives au Service de Neurologie du CHU du Point "G". Patients et méthodes: Nous avons réalisé une étude de cas enrôlé dans le cadre d'une étude longitudinale et prospective allant de Janvier 2018 à Décembre 2020, portant sur des patients présentant des symptômes d'ACAR et ayant donné leur consentement éclairé. Résultats: Nous avons enrôlé sept familles totalisant 13 patients. Le sexe ratio était de 2,2 en faveur des hommes, la région de Kayes était la plus représentée et l'ethnie peulh était majoritaire. Les troubles de la marche ont représenté les signes majeurs suivis de troubles de la sensibilité profonde, de nystagmus, de dysarthrie, et des déformations ostéoarticulaires. L'alpha-foetoprotéine était élevée chez une patiente. Le test génétique a retrouvé l'ataxie de Friedreich dans une famille et n'a pas été concluant dans quatre autres. Conclusion: Cette étude montre que les ACAR ne sont pas rares au Mali et l'exploration génétique constitue un outil indispensable pour leur diagnostic de certitude.

[Factors associated with mental disorders in the psychiatric department of the university hospital centre of Point G in Mali.] / FACTEURS ASSOCIÉS AUX TROUBLES MENTAUX DANS LE SERVICE DE PSYCHIATRIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT G AU MALI.

INTRODUCTION: Mental health is a state of equilibrium and well-being, any alteration of which leads to the appearance of a state of distress and/or mental disorder. OBJECTIVE: The objective of this work was to study familial and environmental factors associated with mental disorders. MATERIALS AND METHODS: A cross-sectional study was conducted in the Psychiatry Department of the Point G University Hospital Center from April 1, 2016 to March 31, 2017 among outpatients with a psychiatric disorder in whom factors associated with psychiatric disorders were studied. RESULTS: We included 288 patients. The median age was 33.0 years. The sex ratio was 1.88 in favor of males. Married patients accounted for 45.5%. First born uterine siblings accounted for 26.7%. Patients born of an inbreeding alliance accounted for 25.7%. Cases with a family history of a psychiatric disorder represented 59.0% and those who spent their childhood with their parents accounted for 64.2%. Cases of psychoactive substance use prior to the onset of the mental disorder accounted for 42.7%. The main psychosocial stress factors that preceded the onset of the mental disorder were grief (46.2%) and family conflict (22.6%). Psychotic disorders accounted for 77.8%. CONCLUSION: Our results show an association of mental disorders with family history of psychiatric disorder among patients followed in psychiatry. Further studies, such as genetic association may prove useful.

[Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G]. / Aspects Cliniques et Paracliniques des Myopathies des Ceintures Récessives au Service de Neurologie du CHU Point G.

INTRODUCTION: Limb-Girdle Muscular dystrophies (LGMD) is a group of inherited diseases characterized by predominantly proximal and limb muscle weakness. These are rare diseases that have not been well studied in sub-saharan Africa. The aim of our was the clinical and paraclinical characterization of patients with recessive LGMD at the Department of Neurology of the Teaching Hospital of Point G. PATIENTS AND METHODS: We conducted a longitudinal prospective study which took place from March 2014 to May 2019. Patients with recessive LGMD phenotype were enrolled. Sociodemographic, clinical and laboratory data were analyzed. RESULTS: We enrolled 46 families (67 patients), i.e. a frequency of 16.7% among the neurodegenerative diseases seen in the service. Among them, 45.6% came from the Sikasso region. Autosomal recessive inheritance pattern was suspected in 67.4% of the families. Symptoms appeared mainly in the first decade of life. Proximal muscle weakness was found in almost all patients. Cardiac examination showed dilated cardiomyopathy in 4.5% of cases. CONCLUSION: Limb-Girdle muscular dystrophy is a disabling disease that is found in Mali. Further study of these cases could elucidate the underlying genetic defects.

Sensitivity assessment of sea lice to chemotherapeutants: Current bioassays and best practices.

Traditional bioassays are still necessary to test sensitivity of sea lice species to chemotherapeutants, but the methodology applied by the different scientists has varied over time in respect to that proposed in "Sea lice resistance to chemotherapeutants: A handbook in resistance management" (2006). These divergences motivated the organization of a workshop during the Sea Lice 2016 conference "Standardization of traditional bioassay process by sharing best practices." There was an agreement by the attendants to update the handbook. The objective of this article is to provide a baseline analysis of the methodology for traditional bioassays and to identify procedures that need to be addressed to standardize the protocol. The methodology was divided into the following steps: bioassay design; material and equipment; sea lice collection, transportation and laboratory reception; preparation of dilution; parasite exposure; response evaluation; data analysis; and reporting. Information from the presentations of the workshop, and also from other studies, allowed for the identification of procedures inside a given step that need to be standardized as they were reported to be performed differently by the different working groups. Bioassay design and response evaluation were the targeted steps where more procedures need to be analysed and agreed upon.

The drivers of sea lice management policies and how best to integrate them into a risk management strategy: An ecosystem approach to sea lice management.

The control of sea lice infestations on cultivated Atlantic salmon is a major issue in many regions of the world. The numerous drivers which shape the priorities and objectives of the control strategies vary for different regions/jurisdictions. These range from the animal welfare and economic priorities of the producers, to the mitigation of any potential impacts on wild stocks. Veterinary ethics, environmental impacts of therapeutants, and impacts for organic certification of the produce are, amongst others, additional sets of factors which should be considered. Current best practice in both EU and international environmental law advocates a holistic ecosystem approach to assessment of impacts and risks. The issues of biosecurity and ethics, including the impacts on the stocks of species used as cleaner fish, are areas for inclusion in such a holistic ecosystem assessment. The Drivers, Pressures, State, Impacts, Responses (DPSIR) process is examined as a decision-making framework and potential applications to sea lice management are outlined. It is argued that this is required to underpin any integrated sea lice management (ISLM) strategy to balance pressures and outcomes and ensure a holistic approach to managing the issue of sea lice infestations on farmed stock on a medium to long-term basis.

Impact of Lepeophtheirus salmonis infestations on migrating Atlantic salmon , Salmo salar L., smolts at eight locations in Ireland with an analysis of lice-induced marine mortality.

Sea lice infestation as a source of marine mortality of outwardly migrating Atlantic salmon smolts has been investigated by treating groups of ranched salmon, prior to release, with a prophylactic sea lice treatment conferring protection from sea lice infestation. A number of studies have been carried out in Ireland using both established ranched populations and groups of hatchery reared fish imprinted for 5-8 weeks in the sites of experimental releases. In this study, data on 352 142 migrating salmon from twenty-eight releases, at eight locations along Ireland's South and West coasts covering a 9-year period (2001 to 2009) are reviewed. Both published and new data are presented including a previously unpublished time series. The results of a meta-analysis of the combined data suggest that while sea lice-induced mortality on outwardly migrating smolts can be significant, it is a minor and irregular component of marine mortality in the stocks studied and is unlikely to be a significant factor influencing conservation status of salmon stocks.

Sea lice levels on wild Atlantic salmon, Salmo salar L., returning to the coast of Ireland.

The sea lice population structure, prevalence and intensity of Lepeophtheirus salmonis have been studied over a period extending from 2004 to 2011. Infestation data were collected from the interceptor drift net fishery from 2004 until it was closed in 2006. From 2010, data were collected from the inshore draft net fishery. In all, 34 samples from the drift and draft net fisheries have been analysed to date. Prevalence of infestation with L. salmonis regularly approached 100% in samples of hosts recovered from the offshore drift net fishery. Abundance was variable both within and between years with a maximum mean abundance of 25.8 lice per fish recorded in 2004. The population structure of L. salmonis on hosts recovered in the inshore and estuarine draft net fisheries was different from that observed in the more offshore drift net samples. There is clear evidence of recent infestation with L. salmonis in the draft net samples.

No association of Disrupted-in-Schizophrenia-1 variation with prefrontal function in patients with schizophrenia and bipolar disorder.

The Disrupted-in-Schizophrenia-1 (DISC1) gene has been implicated in both schizophrenia and bipolar disorder by linkage and genetic association studies. Altered prefrontal cortical function is a pathophysiological feature of both disorders, and we have recently shown that variation in DISC1 modulates prefrontal activation in healthy volunteers. Our goal was to examine the influence of the DISC1 polymorphism Cys704Ser on prefrontal function in schizophrenia and bipolar disorder. From 2004 to 2008, patients with schizophrenia (N = 44), patients with bipolar disorder (N = 35) and healthy volunteers (N = 53) were studied using functional magnetic resonance imaging while performing a verbal fluency task. The effect of Cys704Ser on cortical activation was compared between groups as Cys704 carriers vs. Ser704 homozygotes. In contrast to the significant effect on prefrontal activation we had previously found in healthy subjects, no significant effect of Cys704Ser was detected in this or any other region in either the schizophrenia or bipolar groups. When controls were compared with patients with schizophrenia, there was a diagnosis by genotype interaction in the left middle/superior frontal gyrus [family-wise error (FWE) P = 0.002]. In this region, Ser704/ser704 controls activated more than Cys704 carriers, and there was a trend in the opposite direction in schizophrenia patients. In contrast to its effect in healthy subjects, variation in DISC1 Cys704Ser704 genotype was not associated with altered prefrontal activation in patients with schizophrenia or bipolar disorder. The absence of an effect in patients may reflect interactions of the effects of DISC1 genotype with the effects of other genes associated with these disorders, and/or with the effects of the disorders on brain function.

Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion.

BACKGROUND: The 22q11.2 deletion syndrome (22qDS) confers high risk for intellectual disability and neuropsychological/academic impairment, although a minority of patients show average intelligence. Intellectual heterogeneity and the high prevalence of psychiatric diagnoses in earlier studies may have obscured the prototypical neuropsychological profile in 22qDS. METHODS: We examined intelligence, memory, reading and mathematical processes in 31 children/adolescents with 22qDS, selected for educational underachievement and an absence of psychiatric diagnoses, using standardised, psychometrically matched instruments that specify how typical a score is for a given intelligence quotient (IQ). RESULTS: Corroborating earlier findings, verbal IQ was significantly superior to performance IQ; verbal memory and basic reading were relative strengths; and visual/spatial memory was a relative weakness. All four findings transcended performance characteristics that are typical of low-IQ individuals. Rote learning yielded the highest score; reading comprehension, numerical operations and mathematical reasoning were among the lowest-performed academic domains. Albeit in the expected direction, performance in the respective components could not be clearly differentiated from what is IQ-appropriate. CONCLUSIONS: A superiority of verbal intelligence over non-verbal intelligence, relative strengths in verbal memory and basic reading, and a relative weakness in visual/spatial memory are likely to be core characteristics of children/adolescents with 22qDS, transcending performance features that are typical of individuals with low IQ.

[Association of extrauterine and intrauterine pregnancy: 3 cases]. / Association grossesse extra uterine et intra uterine: a propos de 3 cas.

Extra uterine pregnancy (GEU) constitutes, by its frequency a problem of public health, by its gravity an obstetric emergency and a problem of fertility for the woman. It represents the chief reason of maternal death during the first quarter of pregnancy. The association of extra-uterine and intra-uterine pregnancy is a particular case of twin pregnancy said ditopic. It is rare, but non exceptional. The authors bring three cases to remind us of its existence.

The analgesic effect of odour and music upon dressing change.

Vascular wounds may require frequent dressing changes over a long period of time, often involving pain, which may not be adequately controlled with conventional analgesia. Complementary analgesia may be beneficial as an adjunctive therapy. This pilot study presented eight patients with two odour therapies, lavender and lemon, two music therapies, relaxing and preferred music and a control condition, during vascular wound dressing changes. Although the therapies did not reduce the pain intensity during the dressing change there was a significant reduction in pain intensity for the lavender therapy and a reduction in pain intensity for the relaxing music therapy after the dressing change. This supports the use of these complementary therapies, which are inexpensive, easy to administer and have no known side effects, as adjunctive analgesia in this patient population. Earlier administration before dressing change may enhance these effects. Further research is required to ascertain why certain complementary therapies are more effective than others at relieving pain.

Etiology of urethral discharge in West Africa: the role of Mycoplasma genitalium and Trichomonas vaginalis.

OBJECTIVE: To determine the etiological role of pathogens other than Neisseria gonorrhoeae and Chlamydia trachomatis in urethral discharge in West African men. METHODS: Urethral swabs were obtained from 659 male patients presenting with urethral discharge in 72 primary health care facilities in seven West African countries, and in 339 controls presenting for complaints unrelated to the genitourinary tract. Polymerase chain reaction analysis was used to detect the presence of N. gonorrhoeae, C. trachomatis, Trichomonas vaginalis, Mycoplasma genitalium, and Ureaplasma urealyticum. FINDINGS: N. gonorrhoeae, T. vaginalis, C. trachomatis, and M. genitalium--but not U. urealyticum--were found more frequently in men with urethral discharge than in asymptomatic controls, being present in 61.9%, 13.8%, 13.4% and 10.0%, respectively, of cases of urethral discharge. Multiple infections were common. Among patients with gonococcal infection, T. vaginalis was as frequent a coinfection as C. trachomatis. M. genitalium, T. vaginalis, and C. trachomatis caused a similar clinical syndrome to that associated with gonococcal infection, but with a less severe urethral discharge. CONCLUSIONS: M. genitalium and T. vaginalis are important etiological agents of urethral discharge in West Africa. The frequent occurrence of multiple infections with any combination of four pathogens strongly supports the syndromic approach. The optimal use of metronidazole in flowcharts for the syndromic management of urethral discharge needs to be explored in therapeutic trials.

[Management of Mauritanian children with cariomyopathies: cooperative experience with non-government organization]. / Prise en charge d'enfants mauritaniens atteints de cardiopathie: experience de cooperation avec une ong.

In the field of a convention between Mauritania and the organisation "Earth of man" we install a cooperation between cardiologists and pediatricians of Nouakchott and medica part of this non governmental organisation. With this cooperation, 62 children all Mauritanians aged from 1 to 15 years and affected by cardiopathies have been oriented to the canton hospital of Geneva for diagnostic therapeutic and surgical problems. Evolution is favorable in 85.5% of cases but we observe 9 deaths 5 in Switzerland and 4 in Mauritania after 1 to 2 years of follow-up.

Lipid, apolipoprotein AI and B levels in Ivorian patients with sickle cell anaemia.

Plasma apolipoprotein AI, apolipoprotein B, cholesterol and triglycerides in 114 Ivorian patients with homozygous sickle cell anaemia (HbSS) were compared to 40, age and sex matched controls with normal haemoglobin (HbAA). Except for plasma triglycerides, lipid and apolipoprotein levels were found to be lower in patients with sickle cell anaemia as compared to normal control subjects. The differences between the two groups were found to be statistically significant (p < 0.05 Student's t test). In addition, a highly significant decrease of plasma apolipoprotein AI (p < 0.01) was observed during painful crisis as compared to the steady state (0.78 g.L-1 versus 1.01 g.L-1), whereas triglyceride levels were found to be higher (1.02 g.L-1 versus 0.78 g.L-1). Although the metabolism of lipoproteins is being altered, the results of this cross-sectional study do not suggest that patients with sickle cell anaemia are at higher risk of developing coronary artery disease.

[Evaluation of atherogenic risk in homozygous sickle cell disease: study of lipid and apolipoprotein AI and B plasma levels]. / Evaluation du risque athérogène chez le drépanocytaire homozygote: étude des taux plasmatiques des lipides et apolipoprotéines AI et B.

The main clinical use of measurements of Apo Al and Apo B is to determine a patient's risk status for the development of ischemic heart disease. Apo B is generally accepted as a contributory cause of coronary artery disease, while Apo Al apparently has a protective effect. The present study reports the plasma change of Apo Al and B in sickle cell anaemic subjects. Immunochemical findings revealed that Apo Al and B levels were found to be lower in sickle cell patients as compared with normal subjects (HbAA). The atherogenicity index given by Apo B/Apo Al remained in the normal range during periods of steady state (0.64 +/- 0.28), while subjects in painful crisis had high index values (0.95 +/- 0.35). Therefore, we concluded that epidemiological studies on a large sample of patients are needed to confirm this relationship between painful crisis and risk of developing coronary artery disease.