Update of a colorimetric method for quantitative determination of galactose in blood samples: A simple and rapid method for the early detection of inherited metabolic diseases.

BACKGROUND: A colorimetric microassay for the quantitative determination of galactose in the blood was taken and updated. This method helps in diagnosis and follow-up of several inherited metabolic diseases connected to galactose metabolism deficiency such as galactosemia, glycogenosis, glycosylation, tyrosinemia and citrin deficiency. Galactose assay in the blood presents difficulties due to interference with glucose. In this study, we update a method to get around these difficulties. METHOD: This procedure was based on the incubation of whole blood with orcinol in a strongly acidic solution to form a galactose and glucose complexes able to absorb at two different wavelengths. RESULTS: The standard curve analysis for the individual solutions of these two sugars showed a wide range of linearity from 0 to 200 mg / l. Under optimal experimental conditions, the stirring time of the orcinol is 3 minutes, the heating time of the reaction is 20 minutes at 56 ° C, and the duration of the incubation in the dark is 40 minutes. The analysis is carried out on fresh blood. The maximum absorbance of galactose and glucose is respectively 569 nm and 421 nm. An adapted diagnosis algorithm was developed based on our results. CONCLUSION: this method could help in screening and identifying patients with hypergalactosemia that need further investigations. It could represent a promising method for neonatal screening in countries with limited resources.

IgD-λ multiple myeloma with excessive excretion of free light chains: a diagnostic trap in the identification of monoclonal gammopathies.

Immunoglobulin D multiple myeloma (IgD MM) is a rare entity of monoclonal gammopathies. We report the case of a IgD MM, associated with excessive excretion of lambda free light chains (FLL λ) diagnosed and managed at the University Hospital Mohammed VI of Marrakech among an adult hospitalized in the hematology department for bone pain and alteration of the general condition. Indeed, IgD MM is characterized by its clinical severity and poor prognosis. The discretion or absence of a monoclonal peak in the electrophoresis of serum proteins makes detection difficult. The present case demonstrates that IgD MM may be associated with excessive production of CLL and may therefore be erroneously diagnosed as CLL MM. Knowledge of this rare subtype of MM and its epidemiological, clinical and especially biological characteristics is crucial for establishing the correct diagnosis.

Moderate-to-Severe Iodine Deficiency in the "First 1000 Days" Causes More Thyroid Hypofunction in Infants Than in Pregnant or Lactating Women.

Background: Iodine deficiency early in the life cycle-the "first 1000 days"-can cause hypothyroidism and irreversibly impair neuromotor development. However, the relative vulnerability among women and infants during this critical period is unclear, making it difficult for country-based programs with limited resources to prioritize their iodine interventions.Objective: Our aim was to determine the prevalence of thyroid hypofunction in women and infants living in an area of moderate-to-severe iodine deficiency.Methods: In a cross-sectional survey in Morocco, we measured urinary iodine concentrations (UICs) and concentrations of thyroid-stimulating hormone (TSH) and total or free thyroxine (TT4 or fT4, respectively) in women of reproductive age (n = 156), pregnant women (n = 245), and lactating women (n = 239) and their young infants (n = 239). We calculated daily iodine intakes and measured iodine concentrations in breast milk and household salt. We compared the incidence of hypothyroidism between the 3 groups of women and with the infants.Results: Women of reproductive age, pregnant women, and lactating women had median (IQR) UICs of 41 (29-63), 32 (17-58), and 35 (19-62) µg/L; and estimated iodine intakes were ∼60%, 22%, and 26% of Recommended Nutrient Intakes (RNIs). The infants' median UIC was 73 (28-157) µg/L, which was greater than for all 3 groups of women (P < 0.001), and their dietary intakes were 27% of the RNI. The prevalence of hypothyroidism was not significantly different between the 4 groups, whereas the prevalence of hypothyroxinemia was higher in infants (40%) than in the 3 groups of women (11-14%) (P < 0.001). The median breast-milk iodine concentration was 42 (26-81) µg/L. Only 6% of salt samples were adequately iodized to a concentration of ≥15 ppm; 54% were inadequately iodized and 40% contained no measurable iodine.Conclusions: In an area of moderate-to-severe iodine deficiency, the prevalence of thyroid hypofunction is ∼4-fold higher in young infants compared with the 3 groups of women, suggesting that, in the "first 1000 days," infants are more vulnerable than their mothers and that programs should prioritize iodine prophylaxis for this group.

Effects of wheat-flour biscuits fortified with iron and EDTA, alone and in combination, on blood lead concentration, iron status, and cognition in children: a double-blind randomized controlled trial.

BACKGROUND: Lead is a common neurotoxicant and its absorption may be increased in iron deficiency (ID). Thus, iron fortification to prevent ID in populations is a promising lead mitigation strategy. Two common fortificants are ferrous sulfate (FeSO4) and ferric sodium EDTA (NaFeEDTA). EDTA can chelate iron and lead. OBJECTIVES: Our study objective was to determine the effects of iron and EDTA, alone and in combination, on blood lead (BPb) concentration, iron status, and cognition. DESIGN: In this 2 × 2 factorial, double-blind placebo-controlled trial, 457 lead-exposed Moroccan children were stratified by school and grade and randomly assigned to consume biscuits (6 d/wk at school) containing 1) ∼8 mg Fe as FeSO4, 2) ∼8 mg Fe as NaFeEDTA that contained ∼41 mg EDTA, 3) ∼41 mg EDTA as sodium EDTA (Na2EDTA), or 4) placebo for 28 wk. The primary outcome was BPb concentration; secondary outcomes were iron status and cognitive outcomes from subtests of the Kaufman Assessment Battery for Children and the Hopkins Verbal Learning Test. These outcomes were measured at baseline and endpoint. All data were analyzed by intention-to-treat. RESULTS: The adjusted geometric mean BPb concentration at baseline was 4.3 µg/dL (95% CI: 4.2, 4.3 µg/dL), and at endpoint these values were 3.3 µg/dL (95% CI: 3.1, 3.5 µg/dL) for FeSO4, 2.9 µg/dL (95% CI: 2.7, 3.0 µg/dL) for NaFeEDTA, 3.3 µg/dL (95% CI: 3.1, 3.5 µg/dL) for EDTA, and 3.7 µg/dL (95% CI: 3.5, 3.9 µg/dL) for placebo. We found an effect of iron (P = 0.009) and EDTA (P = 0.012) for reduced BPb concentrations at endpoint, but no iron × EDTA interaction. Iron fortification improved iron status, but there were no positive effects of iron or EDTA on cognitive test scores. CONCLUSIONS: Food fortification with iron and EDTA additively reduces BPb concentrations. Our findings suggest that NaFeEDTA should be the iron fortificant of choice in lead-exposed populations. This trial was registered at clinicaltrials.gov as NCT01573013.

Iodine Supplementation Decreases Hypercholesterolemia in Iodine-Deficient, Overweight Women: A Randomized Controlled Trial.

BACKGROUND: In iodine deficiency, thyrotropin (TSH) may increase to stimulate thyroidal iodine uptake. In iodine-sufficient populations, higher TSH predicts higher total cholesterol. Whether higher TSH caused by iodine deficiency affects serum lipids is uncertain. OBJECTIVE: Our aim was to determine if iodine repletion decreases serum TSH and improves the lipid profile. METHODS: In this randomized controlled intervention, iodine-deficient, overweight or obese Moroccan women (n = 163) received 200 µg oral iodine or a placebo daily for 6 mo. Main outcomes were serum TSH and plasma total and LDL cholesterol. Secondary outcomes included thyroid hormones and measures of lipid and glucose metabolism and urinary iodine concentration (UIC). Data were compared by using mixed-model analysis. RESULTS: In the intervention group, median UIC increased from 38 (95% CI: 34, 45) µg/L to 77 (95% CI: 59, 89) µg/L (P < 0.001). After 6 mo of intervention, TSH was 33% lower in the treatment group than in the placebo group (P = 0.024). The triiodothyronine (T3) to thyroxine (T4) ratio and thyroglobulin decreased with treatment [-15% (P = 0.002) and -32% (P < 0.001), respectively], whereas T4 concentrations were higher in the treatment group (P < 0.001). Total cholesterol in subjects with elevated baseline cholesterol (>5 mmol/L) was reduced by 11% after the intervention (P = 0.034). At 6 mo, only 21.5% of treated women remained hypercholesterolemic (total cholesterol >5 mmol/L) vs. 34.8% of controls (baseline: 44.2% in the intervention and 36.8% in the control group; P = 0.015). The reduction in the prevalence of elevated LDL cholesterol (>3 mmol/L) in the intervention group (50.6% to 35.4% compared with 47.4% to 44.9% in the control group) was not significant (P-interaction = 0.23). CONCLUSIONS: Our findings suggest that moderate to severe iodine deficiency in overweight women elevates serum TSH and produces a more atherogenic lipid profile and that iodine supplementation in this group reduces the prevalence of hypercholesterolemia. Thus, iodine prophylaxis may reduce cardiovascular disease risk in overweight adults. This trial was registered at clinicaltrials.gov as NCT01985204.

[Gemella haemolysans brain abscess in a child with complex congenital heart disease]. / Abcès cérébral à Gemella haemolysans chez un enfant porteur d'une cardiopathie congénitale complexe.

Gemella haemolysans, a Gram positive cocci which are deemed to be the normal inhabitant of the mucous membranes of the oropharynx, has been recognized as a pathogen involved in abscess formation. The aim of this case report is to demonstrate that it is also involved in brain abscess in children. We report, to our knowledge, the first pediatric case of Gemella haemolysans brain abscess in an 11 years old child carrying a complex congenital heart disease (dextrocardia with single right ventricle) which evolved favorably under antibiotic therapy. Because of its similarity with Streptococcus viridans groupe, Gemella haemolysans often remains under-diagnosed in the laboratory. The contribution of microbiologists in its correct identification is very important.

IgG anti-toxoplasma antibodies among asymptomatic HIV-infected patients in Marrakesh-Morocco.

Detection and monitoring of anti-Toxoplasma gondii antibodies are of a great interest among human immunodeficiency virus (HIV)-infected patients, since cerebral toxoplasmosis is a life-threatening opportunistic infection within this vulnerable population. The IgG anti-T. gondii seroprevalence was assessed in 95 asymptomatic HIV-infected adults living in Marrakesh city and its surrounding areas. Our results showed a seroprevalence of 62.1%, which is high compared to most other countries. The mean of CD(4+) T-cells count of involved patients was 381.9cells/µl. Given these results, HIV-infected patients in Marrakesh region could be at high risk to develop toxoplasmosis disease, especially when CD(4+) T-cells count falls below 100cells/µl. Accordingly, there is a serious need of widening antiretroviral therapy and chemoprophylaxis against toxoplasmosis, when indicated, to ovoid toxoplasmosis reactivation among this population.

Contributions of biological tests and the 4 Ts score in the diagnosis of heparin induced thrombocytopenia.

INTRODUCTION: Heparin-induced thrombocytopenia (HIT) is an adverse drug reaction caused by antibodies to the heparin/platelet factor 4 (PF4) complexes. HIT diagnosis is challenging and depends on clinical presentation and laboratory tests. We investigated the interest of the combined use of 4 Ts score and the functional and immunological tests for the diagnosis of HIT. METHODS: We analyzed 178 patients with suspected HIT, for which the 4 Ts score was calculated. Heparin-PF4 antibodies were detected by both Heparin-induced platelet activation test (HIPA) and Heparin platelet induced antibodies enzyme immunoassay. RESULTS: Our results shown that in low probability group, 85% of plasmas were found negative versus 55.5% in the high probability group. On the other hand, 22.2% of patients were HIT positive in high probability group versus 0% in the low probability group. CONCLUSION: These results confirmed that the negative predictive value of the HIT score was high. The 4T's model has demonstrated excellent sensitivity but its specificity was limited. The specificity of the functional and immunological test is high only in a context suggestive of HIT. Both methods should be considered complementary in the diagnostic strategy.

Respiratory cryptosporidiosis in two patients with HIV infection in a tertiary care hospital in Morocco.

Respiratory cryptosporidiosis is recognized as a late-stage complication in persons with AIDS. We report two cases of respiratory cryptosporidiosis in patients with HIV infection. The first patient was a 46-year-old person with chronic diarrhea, a two-month history of low-grade fever, progressive dyspnea and productive cough. The search for acid-fast bacillus, Pneumocystis jirovecii, Toxoplasma gondii and Cryptococcus sp. in sputum was negative on several samples. The modified Ziehl has shown oocysts of Cryptosporidium sp. in induced sputum. The patient's death occurred, due to electrolytes disorders. The second patient was a 45-year-old person hospitalized for chronic fluid diarrhea, complicated with weight loss, dry cough, dyspnea stage II and low-grade fever. The patient was HIV-positive with low CD4 count and pancytopenia. Acid-fast oocysts of Cryptosporidium sp. were observed in stool samples and induced sputum. The patient was treated daily with azithromycin 500  mg resulting of disappearance of gastrointestinal and respiratory disorders.

[Severe hypertriglyceridemia and macrophage activation syndrome: a case report]. / Hypertriglycéridémie majeure et syndrome d'activation macrophagique.

We report the case of a 36-year-old patient admitted for Macrophage Activation Syndrome (MAS), revealed by inflammatory dermo-hypodermal lesions, tumor syndrome, pancytopenia, biological cholestasis, increased lactate dehydrogenase rates and hemophagocytosis in skin biopsies. The patient also exhibited an exponential increase in triglycerides serum levels that reached 22 g/L. The patient died after multiple organ failure. This case illustrates the value of the hypertriglyceridemia in the diagnosis and monitoring of hemophagocytic syndrome but also highlights the difficulty in understanding its pathophysiology especially with several elements that contribute to its aggravation during the evolution of this syndrome.