Adult gaucher disease in southern Tunisia: report of three cases

Abstract Background Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease. Findings Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state. Conclusion The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.</p

Carbapenem use correlates with percentage of patients with COVID-19 in intensive care units

Background: The first wave of COVID-19 pandemic may have significantly impacted antimicrobial consumption in hospitals. The objective of this study was to assess the evolution of carbapenem consumption and describe the implemented measures during the first year of the COVID-19 pandemic. Methods: We calculated carbapenem consumption for all the hospital and for intensive care units (ICU) for three periods: baseline (before COVID-19 cases, January 2019-February 2020), and the period of COVID-19 cases as a pre-intervention (March-August 2020) and a post-intervention phase (September 2020-December 2021). Results: During the study period, the percentage of admitted COVID-19 patients increased in the months of April-August of 2020 (pre-intervention period) from 5 to 26% of total admitted patients. The consumption of carbapenems (DDD/1000 patient days) increased from a mean of 67.1 at baseline to 142.9 pre-intervention. In ICUS, there was an increase in the mean from 125.7 to 240.8 DDD/1000 patient days. After interventions, the DDD/1000 patient days decreased by 49.5% overall the hospital and by 36% in ICUs. For the post-intervention period, there was a correlation between COVID-19 cases and carbapenem usage in the ICU but not the overall hospital. Conclusion: An increase in the antimicrobial consumption during the first wave of COVID-19 pandemic was noticed, especially in the ICU. Antimicrobial stewardship programs are essential to reduce consumption rate

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

International audienceTunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East

Epidemiology of heart failure and long-term follow-up outcomes in a north-African population: Results from the NAtional TUnisian REgistry of Heart Failure (NATURE-HF)

International audienceThe NATURE-HF registry was aimed to describe clinical epidemiology and 1-year outcomes of outpatients and inpatients with heart failure (HF). This is a prospective, multicenter, observational survey conducted in Tunisian Cardiology centers. A total of 2040 patients were included in the study. Of these, 1632 (80%) were outpatients with chronic HF (CHF). The mean hospital stay was 8.7 ± 8.2 days. The mortality rate during the initial hospitalization event for AHF was 7.4%. The all-cause 1-year mortality rate was 22.8% among AHF patients and 10.6% among CHF patients. Among CHF patients, the older age, diabetes, anemia, reduced EF, ischemic etiology, residual congestion and the absence of ACEI/ ARBs treatment were independent predictors of 1-year cumulative rates of rehospitalization and mortality. The female sex and the functional status were independent predictors of 1-year all-cause mortality and rehospitalization in AHF patients. This study confirmed that acute HF is still associated with a poor prognosis, while the mid-term outcomes in patients with chronic HF seems to be improved. Some differences across countries may be due to different clinical characteristics and differences in healthcare systems