Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectives.

A case-control design determined whether konzo, an upper motoneuron disease linked to food (cassava) toxicity was associated with protein carbamoylation and genetic variations. Exon sequences of thiosulfate sulfurtransferase (TST) or mercaptopyruvate sulfurtransferase (MPST), plasma cyanide detoxification rates, and 2D-LC-MS/MS albumin carbamoylation were assessed in 40 children [21 konzo-affected and 19 putatively healthy controls, mean (SD) age: 9.2 (3.0) years] subjected to cognition and motor testing using the Kaufman Assessment Battery and the Bruininks/Oseretsky Test, respectively. Konzo was significantly associated with higher levels of carbamoylated peptides 206-219 (LDELRDEGKASSAK, pep1) after adjusting for age, gender, albumin concentrations and BUN [regression coefficient: 0.03 (95%CI:0.02-0.05), p = 0.01]. Levels of pep1 negatively correlated with performance scores at all modalities of motor proficiency (r = 0.38 to 0.61; all p < 0.01) or sequential processing (memory)(r = - 0.59, p = 0.00) and overall cognitive performance (r = - 0.48, p = 0.00) but positively with time needed for cyanide detoxification in plasma (r = 0.33, p = 0.04). Rare potentially damaging TST p.Arg206Cys (rs61742280) and MPST p.His317Tyr (rs1038542246) heterozygous variants were identified but with no impact on subject phenotypes. Protein carbamoylation appears to be a reliable marker for cassava related neurodegeneration.

Lower sulfurtransferase detoxification rates of cyanide in konzo-A tropical spastic paralysis linked to cassava cyanogenic poisoning.

Using a matched case-control design, we sought to determine whether the odds of konzo, a distinct spastic paraparesis associated with food (cassava) cyanogenic exposure in the tropics, were associated with lower cyanide detoxification rates (CDR) and malnutrition. Children with konzo (N=122, 5-17 years of age) were age- and sex-matched with presumably healthy controls (N=87) and assessed for motor and cognition performances, cyanogenic exposure, nutritional status, and cyanide detoxification rates (CDR). Cyanogenic exposure was ascertained by thiocyanate (SCN) concentrations in plasma (P-SCN) and urine (U-SCN). Children with a height-for-age z-score (HAZNCHS)<-2 were classified as nutritionally stunted. CDR was measured as time required to convert cyanide to SCN, and expressed as ms/µmol SCN/mg protein or as mmolSCN/ml plasma/min. Mean (SD) U-SCN in children with konzo was 521.9 (353.6) µmol/l and was, significantly higher than 384.6 (223.7) µmol/l in those without konzo. Conditional regression analysis of data for age- and sex- matched case-control pairs showed that konzo was associated with stunting (OR: 5.8; 95% CI: 2.7-12.8; p<0.01; N=83 paired groups) and higher U-SCN (OR: 1.1; 95% CI: 1.02-1.20 per 50-µmol increase in U-SCN; p=0.02; N=47 paired groups). After adjusting for stunting and U-SCN, the odds of developing konzo was reduced by 63% (95% CI: 11-85%, p=0.03; N=41 paired groups) for each 5mmol SCN/(ml plasma/min)-increase in CDR. Linear regression analysis indicated a significant association between BOT-2 or KABC-II scores and both the HAZNCHS z-score and the U-SCN concentration, but not the CDR. Our findings provide evidence in support of interventions to remove cyanogenic compounds from cassava prior to human consumption or, peharps, enhance the detoxification of cyanide in those relying on the cassava as the main source of food.

Determinants of cognitive performance in children relying on cyanogenic cassava as staple food.

While risk factors for konzo are known, determinants of cognitive impairment in konzo-affected children remain unknown. We anchored cognitive performance (KABC-II scores) to serum levels of free-thyroxine (free-T4), thyroid-stimulating hormone (TSH), albumin, and motor proficiency (BOT-2 scores) in 40 children including 21 with konzo (median age: 9 years) and 19 without konzo (median age: 8 years). A multiple regression model was used to determine variables associated with changes in KABC-II scores. Age (ß: -0.818, 95% CI: -1.48, -0.152) (p = 0.018), gender (ß: -5.72; 95% CI: -9.87, -1.57 for females) (p = 0.009), BOT-2 score (ß: 0.390; 95% CI: 0.113, 0.667) (p = 0.008), and free-T4 (ß: 1.88; 95% CI: 0.009, 3.74) (p = 0.049) explained 61.1 % of variation in KABC-II scores. Subclinical hypothyroidism was not associated with poor cognition. A crude association was found between serum albumin and KABC-II scores (ß: 1.26; 95 % CI: 0.136, 2.39) (p = 0.029). On spot urinary thiocyanate reached 688 µmol/l in children without konzo and 1,032 µmol/L in those with konzo. Female gender and low serum albumin are risk factors common to cognitive and proportionally associated motor deficits in children exposed to cassava cyanogens. The two types of deficits may share common mechanisms.

Convulsions associees a la fievre et developpement psychomoteur en soins de sante primaires a Kinshasa

Une etude prospective menee pendant 3 mois dans 2 centres des soins de sante primaires a Kinshasa; a permis de decrire les caracteristiques semiologiques des Convulsions Febriles (CF) presentees par 148 patients; ages de 5 a 71 mois. Les CF ont ete decrites en fonction de leur distribution; leur duree et leur repetition eventuelle. Les caracteres lateralises; prolonges et repetitifs etaient consideres comme des facteurs de gravite. Le Quotient de Developpement psychomoteur (QDP) des patients a ete evalue sur base de l'echelle de Gensini et Gavito; reprenant les domaines de lamotricite; de la communication; et de l'adaptation. Le QDP etait bas chez 6;7des patients. 5avaient un retard dans le domaine de la motricite; 3;4dans le domaine de la communication; et 2;7dans celui de l'adaptation. Nous n'avons pas note de lien significatif entre le QDP global; et les facteurs de gravite des CF. Toutefois; tous les enfants ayant un retard dans le domaine de la motricite; avaient presente des convulsions repetees avant leur admission: (p=0;02 [OR=1;096 (IC 95) : 1;060 -1;128)]. La motricite etait l'element le plus significativement atteint chez les malades ayant presente les CF. Cette observation merite d'etre validee par des etudes cas temoins; incluant un plus grand nombre de sujets

Cannabisme et troubles mentaux en milieu rural zairois : aspects epidemiologiques

La recherche de facteurs etiologiques des troubles mentaux montre que la consommation du cannabis est l'un des facteurs de risque de troubles du comportement en milieu rural zairois. Une enquete etiologique preliminaire portant sur 156 patients soignes au Centre Neuro-Psycho-Pathologique de Kitwambi donne une incidence du cannabisme de 13 pour cent et permet d'esquisser le profil epidemiologique du cannabisme a haut risque de troubles du comportement en milieu rural. Il s'agit surtout des jeunes adultes; de sexe masculin; celibataires; plus ou moins instruits; s'adonnant aux travaux durs ou des eleves; associant souvent le cannabis a l'alcool et au tabac. Les tableaux cliniques sont domines par les acces psychotiques aigus: acces maniaque; depression; bouffee delirante; confusion mentale aigue: 85 pour cent des cas. Les observations des auteurs denotent le role important de facteurs socio-culturels dans la genese des troubles

La promotion des soins de sante mentale; une exigence du developpement au Zaire

Dans un pays en crise sans revolution philosophique sociale de changement; la promotion de la sante mentale comme finalite de tous les autres etats de sante; eu egard a ses aspects biologiques et sociaux s'avere etre une voie a suivre vers le developpement. Les profesionnels de la sante sont appeles a repenser leur role dans cette vision des choses

Le traitement des crises epileptiques dans les tableaux neurologiques aigus

Les crises epileptiques sont frequentes dans les tableaux neurologiques aigus. Leur traitement dans ce contexte pathologique est sujet a caution et releve de la reanimation cerebrale qui n'est pas a la portee de tous les patients. Un prerequis de connaissance sur la physiopathologie de l'oedeme cerebral et le traitement de l'etat de mal epileptique peut permettre au praticien d'eviter de tomber facilement dans l'abus therapeutique