New Born Screening of Hemoglobinopathies in a Center Tunisian Population.

Sickle cell diseases, ß-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa. Their clinical complications presented a real public health problem in each country. For this, early treatment can improve the severity of these diseases. Hemoglobinopathies targeted by screening are associated with SCD, ß, and α thalassemia. Our study aim is to report our experience with newborn screening for hemoglobinopathy in Tunis. The 156 newborn's cord blood was collected at the time of childbirth in the center region (Farhat Hached Hôspital). We opted for hemoglobin exploration to achieve maximum efficiency and effectiveness in screening. After that, all patients suspected to have hemoglobinopathies are affected by molecular investigation. Our findings showed the presence of some hemoglobinopathies such as ß-thalassemia and α-thalassemia with the following frequencies: 12% and 0.33%. The molecular results show the presence of HBB: c.93-21G>A, IVS-I-110G>A, HBBc. -106G>A -56G>C, HBBc.404T>C, Hb Yaounde described for the first time in Tunisia and α 3,7 . In conclusion, newborn screening diagnoses neonates with different examples of hemoglobinopathies, which will be beneficial not only for the care of the child but also for genetic counseling of the potential risk's parents.

Evaluation of muscle strength and quality in North African patients with chronic hepatitis B: A pilot case control study.

Early detection of alteration of muscle strength, quantity, and quality, and sarcopenia is useful in non-cirrhotic chronic hepatitis B (NC-CHB) patients. Studies, which explored the handgrip strength (HGS) are scarce with questionable results, and no previous case-control study explored the presence of sarcopenia.The aim of this study was to assess the muscle strength [i.e.; HGS absolute (HGSA), HGSA/body mass index (BMI)], muscle quantity [i.e.; appendicular skeletal muscle (ASM), ASM/height2, ASM/total body weight (TBW), ASM/BMI], and muscle quality [i.e.; HGSA/total muscle mass (TMM), HGSA/ASM] of NC-CHB patients.This was a case-control study. Cases (n = 26) were untreated NC-CHB patients, and controls (n = 28) were 'apparently' healthy participants. Muscle mass was estimated via the TMM (kg) and ASM (kg). Muscle strength was evaluated via the HGS data [i.e.; HGSA (kg), HGSA/BMI (m2)]. Six variants of HGSA were determined: highest values for the dominant and non-dominant hands, highest value between the two hands, averages of the three measurements for the two hands, and the average of the highest values of the two hands. Muscle quantity was expressed in three relative variants (ASM/height2, ASM/TBW, and ASM/BMI). Muscle quality was evaluated via relative HGS data adjusted by muscle mass (i.e.; HGSA/TMM, HGSA/ASM). Probable and confirmed sarcopenia were retained in front of low muscle strength, and low muscle strength and muscle quantity or quality, respectively.There were no significant differences between controls and NC-CHB patients in values of muscle i) Strength whatever the HGS' mode of expression (e.g.; HGSA/BMI: 1.59 ± 0.54 vs. 1.53 ± 0.54 m2, p = 0.622, respectively), ii) Quantity (e.g.; ASM/BMI: 0.79 ± 0.24 vs. 0.77 ± 0.23 m2, p = 0.883), and iii) Quality (e.g.; HGSA/ASM: 2.00 ± 0.25 vs. 2.01 ± 0.41, p = 0.952, respectively). One NC-CHB participant had a confirmed sarcopenia.To conclude, both controls and NC-CHB patients had similar HGS values. Only one NC-CHB patient had a confirmed sarcopenia.

[Biological assay for galactose-1 phosphate measurement application in subjects with galactosemia]. / Dosage du galactose-1 phosphate et application chez des sujets galactosémiques.

Congenital galactosemia is a hereditary, autosomal recessive and metabolic disease. It is linked to an enzyme deficiency, more commonly known by the deficiency of galactose-1- phosphate uridyltransferase (GALT), which is responsible for an accumulation of galactose-1- phosphate in the blood. Clinical symptoms appear early in infancy from the second week of life. They generally manifested by some disorders within liver, kidney, eye, gastrointestinal, neurological and also with cataracts. Currently, the clinical diagnosis remains difficult hence the importance of further investigations based on effective biological assessments to highlight the disease. The diagnosis of galactosemia is made by the laboratory test. The latter includes the determination of Gal-1-P which is done by a fluorometric method spot test. This study was conducted in order to assess the repeatability, reproducibility, accuracy, and effectiveness of the techniques used. We have found the CV for a repeatability (CV = 5 %), reproducibility (CV = 4 %) which confirms the accuracy of the method proceeded in this study. This method allows us to have a degree of inaccuracy less than 1%. According to the study of the effectiveness of "spot test", we found that our technique is specific (Sp = 93 %) and sensitive (Se = 83 %).

[Maroteaux-Lamy syndrome: a case report]. / Syndrome de Maroteaux-Lamy : à propos d'un cas.

The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected.

[The congenital afibrinogenemia: case report]. / L'afibrinogénémie congénitale: à propos d'un cas.

The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management.

The Impacts of Ramadan Intermittent Fasting on Oxidant/Antioxidant Stress Biomarkers of Stable Chronic Obstructive Pulmonary Disease Male Patients.

No prior study has evaluated the impacts of Ramadan intermittent fasting (RIF) on oxidant/antioxidant stress (OS/AOS) biomarkers in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to assess the impacts of RIF on some OS/AOS biomarkers measured in male patients with stable COPD. Fifteen COPD patients (mean age: 71 ± 6 years) fasting Ramadan in 2017 volunteered to take part in the study. Three sessions (before Ramadan [BR], end Ramadan [ER], after Ramadan [AR]) were selected. Blood samples of OS (homocysteine [µmol/L], thiobarbituric acid reactive substances [TBARS, µmol/L]) and AOS (catalase [U/ml], ceruloplasmin [g/L], superoxide dismutase [SOD, ng/ml], zinc [µmol/L], albumin [g/L]) biomarkers were consistently taken 4.5 to 2.5 hr before the iftar. Findings were analyzed by applying Friedman or Kruskal-Wallis ANOVA. Comparisons of the number of patients with high OS [high homocysteine and/or TBARS] and low AOS (low catalase and/or ceruloplasmin and/or SOD and/or zinc and/or albumin) blood values between the three sessions were performed using the Cochran test. The median ± interquartile of homocysteine (BR: 21.48 [18.98-24.49], ER: 23.15 [21.77-26.45], AR: 24.87 [21.91-37.12]), ceruloplasmin (BR: 0.27 [0.24-0.30], ER: 0.28 [0.26-0.33], AR: 0.28 [0.25-0.32]), SOD (BR: 288.00 [112.00-400.00], ER: 182.00 [152.00-386.00], AR: 234.00 [190.00-420.00]) and the mean ± SD of TBARS (BR: 5.66 ± 1.26, ER: 4.59 ± 0.78, AR: 5.29 ± 1.69), catalase (BR: 120.97 ± 54.62, ER: 106.73 ± 50.92, AR: 137.39 ± 40.88), zinc (BR: 11.85 ± 2.01, ER: 12.47 ± 2.34, AR: 12.21 ± 2.58) and albumin (BR: 39.78 ± 3.19, ER: 40.74 ± 2.26, AR: 40.56 ± 2.38) were not significantly affected by RIF. The number of patients with high OS (BR [ n = 13], ER [ n = 15], AR [ n = 14]) or low AOS (BR [ n = 12], ER [ n = 13], AR [ n = 13]) statuses were not significantly influenced by RIF. In conclusion, RIF did not induce any significant statistical or clinical changes in OS/AOS biomarkers or statuses in COPD patients.

The Effects of Ramadan-Fasting (RF) on Inflammatory and Hematological Indices of Stable Chronic Obstructive Pulmonary Disease (COPD) Male Patients: A Pilot Study.

No previous study has evaluated the effects of RF on inflammatory and hematological indices of COPD patients. The main objective of the present pilot study was to assess the effects of RF on some inflammatory and hematological indices measured in male patients with stable COPD. Fifteen COPD patients (mean ± SD of age: 71 ± 6 years) who fasted during Ramadan 2017 volunteered for the study. Three sessions (Before-Ramadan, End-Ramadan and After-Ramadan) were selected. Spirometry tests and blood samples were consistently performed 2.5-4.5 hr before the interruption of the fasting. Assessment sessions comprised: spirometry, inflammatory [erythrocyte sedimentation rate (ESR); C-reactive protein (CRP)] and hematological [red and white blood cells (RBC, WBC); hemoglobin; hematocrit; mean corpuscular volume; mean corpuscular hemoglobin; platelets] indices. Findings were analyzed by applying Friedman ANOVA. The median (lower-upper quartiles) of ESR (Before-Ramadan: 3 (2-9), End-Ramadan: 7 (0-13), After-Ramadan: 9 (5-15) mm/h) and CRP (Before-Ramadan: 20 (11-38), End-Ramadan: 15 (9-34), After-Ramadan: 20 (12-46) mg/L) were not significantly affected by RF. Among all the hematological indices, RF influenced only hemoglobin (Before-Ramadan: 14.4 ± 2.2, End-Ramadan: 13.4 ± 1.3, After-Ramadan: 12.2 ± 0.9 g/dL), hematocrit (Before-Ramadan: 45 ± 7, End-Ramadan: 40 ± 4, After-Ramadan: 39 ± 4%), RBC (Before-Ramadan: 5.1 ± 1.0, End-Ramadan: 4.6 ± 0.7, After-Ramadan: 4.4 ± 0.5 106/mm3) and WBC (Before-Ramadan: 8,673 ± 1,911, End-Ramadan: 7,840 ± 1,526, After-Ramadan: 9,507 ± 2,190/mm3). Compared to the Before-Ramadan session, the End-Ramadan session values for hemoglobin, hematocrit, RBC and WBC were lower. Compared to the After-Ramadan session, the End-Ramadan session values for hemoglobin and WBC were higher and lower, respectively. In conclusion, RF caused significant reduction in hemoglobin, hematocrit, RBC and WBC. However, it did not induce any significant changes in the CRP and ESR indices.