Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.

OBJECTIVE: This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors. METHODS: Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal-Wallis nonparametric test. RESULTS: In MTHFR gene C677T polymorphism, cases with (CT + TT) genotype had lower monounsaturated FAs (MUFA) and omega-3 polyunsaturated FA (n-3 PUFA) levels, but higher omega-6 polyunsaturated FAs (n-6 PUFA) and omega-6 polyunsaturated FAs: omega-3 polyunsaturated FAs (n-6:n-3) ratio levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype had lower MUFA levels, but higher PUFA and n-6 PUFA levels. Controls with (AG + GG) genotype had lower n-6 PUFA levels. In MTHFR gene C677T polymorphism, cases with smoking spouses and (CT + TT) genotype had lower MUFA and n-3 PUFA levels, but higher PUFA, n-6 PUFA, and n-6:n-3 ratio levels. Cases with (CT + TT) genotype and who used sauna during pregnancy had lower n-3 PUFA levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype and who used sauna during pregnancy had higher PUFA and n-6 PUFA levels. CONCLUSIONS: Further research is required to clarify the association of FA metabolism and (MTHFR, MTRR) polymorphisms with NTDs.

Salivary Cortisol Measurement Contamination After Oral Hydrocortisone: A Randomized Crossover Trial.

The study aimed to evaluate salivary cortisol (SC) contamination and determine the associated factors in secondary adrenal insufficiency (SAI) patients treated with hydrocortisone (Hc). A randomized crossover trial involved SAI patients. SC was measured before the morning Hc dose, then at one, two, and four hours after. The procedure was performed twice on two days of a week: one day while taking Hc in tablet form (tablet set) and one day while taking Hc in capsule form (capsule set). Area under the curve (AUC) of SC levels over time was calculated in each participant for the two sets. SC contamination was defined as AUCtablet above the 95th percentile of AUCcapsule. Thirty-four patients (24 females and 10 males) with a median age of 48 years were enrolled. Post-Hc dose SC levels were higher in tablet than in capsule set, particularly at one hour. Prevalence and extent of SC contamination were estimated to 32% and 88%, respectively. In capsule set, SC measured two hours after Hc intake showed the strongest correlation with AUC (r=0.88, p<0.001). In multivariate analysis, serum potassium≥3.9 mEq/l was the only predictor for SC contamination [multi-adjusted OR (95% CI): 7.1 (1.4-36.1); p=0.018]. SC measured during the two hours after Hc intake is inaccurate for glucocorticoid replacement therapy assessment in SAI patients treated with Hc in tablet form.

Long-term complications of permanent hypoparathyroidism in adults: prevalence and associated factors.

INTRODUCTION: Patients with Chronic hypoparathyroidism (CHPT) receiving conventional treatment are exposed to several long-term complications including basal ganglia calcifications, posterior subcapsular cataract, kidney stones, and renal insufficiency. The aim of this study was to assess the prevalence and the associated factors of these complications in patients with CHPT. METHODS: We conducted a cross-sectional study including 58 patients with CHPT. All participants underwent physical examination, biochemical assessment (total serum calcium, serum phosphorus, serum albumin, intact-PTH, serum magnesium, 25-hydroxy-vitamin D, serum creatinine, thyroid stimulating hormone (TSH), and 24-hour urinary calcium), slit lamp examination, brain computed tomography scan (CT-scan), and renal ultrasound. RESULTS: Participants had a mean age of 52.6 ± 16.4 years and a gender ratio (women/men) of 3.5. Fahr syndrome, cataract, urolithiasis, and renal failure were found in 55%, 62%, 12%, and 17% of cases, respectively. CHPT duration >15 years (Adjusted-OR = 43.1, 95-CI: 2.63-703.06, p = 0.008) and poor adherence to treatment (Adjusted-OR = 8.04, 95%-CI: 1.52-42.42, p = 0.014) were independently associated with the risk of Fahr syndrome. Age >55 years (adjusted-OR = 5.07, 95-CI: 1.10-23.42, p = 0.037), disease duration >15 years (adjusted-OR = 20.21, 95-CI: 1.54-265.84, p = 0.022), and magnesium level <0.8 mmol/l (adjusted-OR = 36.46, 95-CI: 3.75-354.08, p = 0.002) were independently associated with the risk of subcapsular cataract. Only hypercalciuria (Adjusted-OR = 21.27, 95-CI: 2.31-195.91, p = 0.007) was an independent risk factor for kidney stones. Renal failure was not associated with kidney stones (p = 1). However, creatinine clearance was negatively correlated with age (r = -0.784; p < 10-3) and disease duration (r = -0.352; p = 0.007). CONCLUSION: Our results revealed high prevalences of neurological, ocular, and renal complications in patients with CHPT and emphasized the importance of regular biological monitoring, therapeutic adjustments, screening, and adherence to treatment in the prevention of these complications.

Immunologic effect and clinical impact of erythromycin in septic patients: A randomized clinical trial.

To investigate the potential regulatory effect of erythromycin added to standard care in septic patients on sepsis biomarkers and clinical outcome. It was a single-blind randomized trial including critical septic patients. The primary endpoint was the change in the TNF/IL-10 ratio between days 0 and 6. Changes in other biomarkers, vasopressor use, and 28-day mortality were secondary endpoints. One hundred and ten patients were examined (erythromycin group, n = 55 versus placebo group, n = 55). Clinical features of the groups were well matched. Erythromycin addition had no beneficial effects on the TNF/IL-10 ratio or mortality (51% vs. 47%, p = 0.62). Both groups' serum TNF/IL-10 ratios did not significantly rise (from 0.48 [0.34-1.18] to 0.59 [0.21-1.10] vs. 0.65 [0.25-1.14] to 0.93 [0.24-1.88] in the erythromycin and placebo groups, respectively; p values = 0.86 and 0.12). Serum Procalcitonin (PCT) and CRP dropped considerably in the Erythromycin group, whereas only PCT showed a drop in the placebo group. On day 6, the non-survivors' serum TNF/IL-10 ratio was lower than that of the survivors (0.55 [0.17-1.04] vs 1.08 [0.4-2.28], p = 0.029). Neither the pro/anti-inflammatory imbalance nor the mortality were impacted by the addition of erythromycin to standard care in septic patients (ClinicalTrials.gov ID: NCT04665089 (11/12/2020)).

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.

Background: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations. Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period. Materials and Methods: This retrospective study included patients who were diagnosed with OADs between 1987 and 2022 in the Laboratory of Biochemistry, Rabta Hospital, Tunisia. Organic acids were analyzed using gas chromatography-mass spectrometry. Results: A total of 30,670 urine samples were analyzed for OADs, of which 471 were positive for OADs. The estimated incidence of OADs in Tunisia was 6.78 per 100,000 live births. Methylmalonic (n = 146) and propionic (n = 90) acidurias were the most common OADs (estimated incidence: 2.10 and 1.30 per 100,000 live births, respectively). There were 54 cases of L-2-hydroxyglutatric acidurias and 30 cases of pyroglutamic acidurias, which makes it one of the highest in the world. The main clinical features were hypotonia (65%) and feeding difficulties (41%). Age at diagnosis was highly variable, ranging from 1 day to 49 years. Only 27% of the patients were diagnosed within the first month of life. The prevalence of OADs was highest in the Center-East and Southeast regions. Conclusions: In Tunisia, OADs are relatively frequent, but there are shortcomings regarding the diagnosis of these disorders. The frequency and health/social impact of these disorders warrant the need for implementing newborn screening programs and suitable patient management.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

BACKGROUND: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics. METHODS: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis. RESULTS: During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X). These patients included 13 boys and 10 girls aged between 3 months and 13 years, comprising 2.18 % of the total 1055 patients screened. The incidence for CDGS was estimated to be 1:23,720 live births (4.21 per 100,000) in Tunisia. The main clinical symptoms related to clinical disease state in newborn and younger patients were psychomotor retardation (91 %), cerebellar atrophy (91 %), ataxia (61 %), strabismus (48 %), dysmorphic symptoms (52 %), retinitis pigmentosa, cataract (35 %), hypotonia (30 %), and other symptoms. CONCLUSION: In Tunisia, CDGS still remains underdiagnosed or misdiagnosed. The resemblance to other diseases, especially neurological disorders, and physicians' unawareness of the existence of these diseases are the main reasons for the underdiagnosis. In routine diagnostics, the screening for CDGS by biochemical tests is mandatory to complete the clinical diagnosis.

Analysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD.

BACKGROUND: Maple syrup urine disease (MSUD) is a severe life-threatening metabolic disorder. Patients' poor outcomes could be prevented by early diagnosis and regular monitoring, which mainly depend on the analysis of branched amino acids (BCAAs) in plasma. The study aimed to test whether the analysis of BCAAs by ultra-performance liquid chromatography (UPLC) is an alternative to an analysis by ion-exchange chromatography (IEC) for the diagnosis and monitoring of MSUD. METHODS: The two methods analyzed fifty plasma samples obtained from treated and untreated patients with MSUD. Data were analyzed using Passing-Bablok and Bland-Altman methods. RESULTS: The slope of the regression lines was equal or close to one for the three BCAAs, indicating no significant proportional differences between the two methods. A slight positive or negative bias was found for leucine and alloisoleucine, respectively. However, for each amino acid, one or two measurement pairs were out of statistical interval of agreement. Despite small analytical differences, the two methods could be considered in clinical agreement since the differences have no impact on the diagnosis and management of patients. CONCLUSIONS: UPLC and IEC methods are in clinical agreement for plasma BCAAs analysis. The UPLC method could be used simultaneously or interchangeably with the IEC method for diagnosing and monitoring MSUD patients. However, for reasons of practicability, the alternative method should only be used when the usual method cannot be carried out.

Incidence of the Mucopolysaccharidoses in Tunisia, 1999 - 2021.

BACKGROUND: This cross-sectional study aimed to describe and discuss the epidemiology of mucopolysaccharidoses (MPS) in Tunisia. METHODS: Patients diagnosed with a MPS disorder in two referral laboratories in Tunisia between 1999 and 2021 were included. Diagnosis was based on clinical and radiological features and analysis of urinary glycosaminoglycans, and enzyme assay in some of the patients. RESULTS: Over the twenty-two years, 199 patients were diagnosed with MPS in Tunisia. The disorder was classified as MPS I, MPS II, MPS III, MPS IV, and MPS VI in 15.07%, 1.5%, 38.69%, 17.08% and 7.03% patients, respectively. Due to the lack of enzyme analysis, the disorder was classified as MPS I or II in 20.6% of patients, and no cases of MPS VII and IX were documented. Gender-ratio was 1.5 and age at diagnosis varied from 3 months to 18 years with a median of 46 months. Patients originated from across Tunisia, and no hotspot site was identified. During the survey period, 3,822,983 births occurred, which provides an estimated global incidence of MPS of 1:20,123 live births (4.97 per 100,000). MPS III was the most frequent type with an estimated incidence of 1.91 cases per 100,000 newborns. CONCLUSIONS: MPS disorders, especially MPS III are relatively frequent in Tunisia, likely due to a high rate of consanguineous marriages. Implementation of enzyme and genetic tests in Tunisia will allow diagnosis confirmation and subtype recognition, as well as accurate genetic counseling and prenatal diagnosis for MPS.

Levothyroxine liquid oral substitution as an alternative treatment for refractory hypothyroidism due to gastrointestinal malabsorption: A case report.

Tablets of levothyroxine (LT4) are the most used form for the treatment of hypothyroidism. Some patients may present with refractory hypothyroidism despite a high daily LT4 dose. We report the case of a 49-year-old woman who was admitted to our department for refractory hypothyroidism. She was treated with 300 µg oral LT4 tablets daily (3.9 µg/kg/day). Despite good compliance and regular intake of high doses of LT4, she had persistent symptoms of hypothyroidism and a thyroid-stimulating hormone level of 92.4 mIU/L. LT4 absorption test was consistent with the diagnosis of malabsorption. Etiological investigations revealed Helicobacter pylori gastritis. Helicobacter infection was adequately treated, but symptoms of hypothyroidism and elevated thyroid-stimulating hormone persisted. Increased LT4 doses (400 µg) failed to normalize thyroid-stimulating hormone levels. Thus, she was put on LT4 liquid form at a dose of 80 drops/day per day (400 µg). Two weeks later, she presented with clinical and biological improvement with a normal free thyroxine level of 1.14 ng/dL. Patients with gastrointestinal disorders may present with refractory hypothyroidism despite increasing doses of LT4. Switching to liquid formulation may resolve this problem.

Metabolic disorders during endogenous Cushing's syndrome: prevalence, associated factors, and outcome after remission.

Objective. The prognosis of Cushing's syndrome (CS) is related to a higher cardiovascular morbidity and mortality. This study aimed to determine the prevalence of metabolic disorders in patients with CS, the associated factors, and the rate of remission of these disorders after the remission from CS. Methods. It is a retrospective study including 75 cases of CS followed up at the university hospital La Rabta of Tunis from 1987 to 2018. Clinical and paraclinical data were collected from medical files. Results. The mean age of the patients was 44.1±18.9 years and the sex ratio was 0.39. At CS diagnosis, the frequencies of obesity, hypertension, diabetes, dyslipidemia, and metabolic syndrome were 52, 75, 43, 83, and 73%, respectively. The age, gender, body mass index, waist circumference, and baseline serum cortisol level were not associated with the presence of diabetes, hypertension or dyslipidemia. Forty-eight patients were operated on. At one year, 38 patients were in remission from CS. The remission rates of hypertension, diabetes, and dyslipidemia were respectively 58% (p<0.001), 76% (p<0.001), and 17% (NS). Conclusion. Metabolic disorders were frequent during CS and their frequencies decreased after the remission from the syndrome.

Vitamin B12 deficiency in long-term metformin treated type 2 diabetic patients: Prevalence and risk factors in a Tunisian population.

Objectives: To determine the prevalence of vitamin B12 deficiency in a Tunisian population with type 2 diabetes (T2D) on metformin treatment for more than three years and to identify its risk factors. Methods: This is a cross-sectional study conducted on 257 patients with T2D treated with metformin for at least three years. Patients were divided into two groups according to their vitamin B12 status. Low vitamin B12 was defined as ≤ 203 pg/mL. Results: The mean age of the patients was 59.8 ± 7.9 years. The mean duration of metformin use was 10.2 ± 5.2 years. The mean vitamin B12 level was 294.9 ± 156.4 pg/mL. The prevalence of vitamin B12 deficiency was 28.4%. Male gender, HbA1c < 7% and hyperhomocysteinemia were significantly associated with vitamin B12 deficiency (respectively p = 0.02, p < 0.001, p < 0.001). Homocysteine level was negatively correlated with vitamin B12 level (r = -0.2, p = 0.001). Dose and duration of metformin treatment, peripheral neuropathy and anemia were not associated with vitamin B12 deficiency. On multivariate analysis, HbA1c < 7% and hyperhomocysteinemia were independently associated with vitamin B12 deficiency (respectively OR = 3.2, 95%CI = [1.6-6.3] and OR = 2.3, 95%CI = [1.2-4.2]). Discussion: The prevalence of vitamin B12 deficiency in patients with T2D on metformin treatment was high. Hyperhomocysteinemia is associated with vitamin B12 deficiency suggesting that the deficit occurs at the tissue level.

Altered mucosal and plasma polyunsaturated fatty acids, oxylipins, and endocannabinoids profiles in Crohn's disease.

Selected mucosal and plasma polyunsaturated fatty acids (PUFAs) and related oxylipins and endocannabinoids were determined in 28 Crohn's disease (CD) patients and 39 controls. Fasting blood and colonic biopsies were collected in all participants, during a disease flare for the patients. Thirty-two lipid mediators including PUFAs, oxylipins, and endocannabinoids were assessed by LC-MS/MS. The pattern of lipid mediators in CD patients is characterized by an increase in arachidonic acid-derived oxylipins and endocannabinoids and a decrease in n-3 PUFAs and related endocannabinoids. A model combining increased 6-epi-lipoxin A4 and 2-arachidonyl glycerol with decreased docoasapentaenoic acid in plasma fairly discriminates patients from controls and may represent a lipidomic signature for CD flare. The study findings suggest that lipid mediators are involved in CD pathophysiology and may serve as biomarkers for disease flare. Further research is required to confirm the role of these bioactive lipids and test their therapeutic potential in CD.

Matrix metalloproteinase 3 and 9 as genetic biomarkers for the occurrence of cardiovascular complications in coronary artery disease: a prospective cohort study.

BACKGROUND: Matrix metalloproteinases (MMPs) are widely expressed in atherosclerosis lesions. The disequilibrium of MMPs driving to an overexpression or a lack of its level can be influenced by genetic variations. MMP-3 and MMP-9 may be affected by specific polymorphisms like - 1612 5 A/6A and the - 1562 C/T respectively. We aim in the present study to investigate prospectively the association between the - 1612 5 A/6A MMP-3 and - 1562 C/T MMP-9 polymorphisms and clinical outcomes in patients with coronary artery disease (CAD). This study is elaborated to reveal whether one of these polymorphisms is a probable predictor of cardiovascular complications in this CAD cohort. METHODS AND RESULTS: A total of 168 patients with CAD were prospectively followed up over a period of 5 years. Genotypes for the MMP-3 (-1612 5 A/6A) and MMP-9 (-1562 C/T) polymorphisms were performed using PCR-RFLP. Their levels were measured by ELISA in Sandwich test during the follow-up period, 39 cardiovascular outcomes occurred with 21 repeat targets for revascularization, 3 patients with Myocardial infarction, 8 for heart failure, 5 for Stroke and 2 for cardiovascular mortality. The MMP-3 5 A/6A polymorphism was related to the disease on the contrary of the MMP-9 -1562 C/T. Patients carrying the 5 A allele had a higher level of MMP-3 level and those who carried the 6 A allele had lower level (p = 0.04). After applied multivariable Cox-hazard models we revealed that the 6 A allele is independently associated to the disease complication. Kaplan-Meier survival test revealed that individuals having the 6 A allele had a lower survival rate than those with the 5 A allele (p = 0.04). CONCLUSION: Our study suggests the disruption of the MMP-3 level may be due to the existence of the polymorphism - 1612 residing in its promoter region. MMP-3 can be considered as a marker of diagnosis and prediction in cardiovascular events.

Impact of hydrocortisone replacement on bone mineral density and bone turnover markers in patients with primary adrenal insufficiency.

Objective. The study was aimed to assess the effect of hydrocortisone (HC) replacement therapy on bone mineral density (BMD) and bone turnover markers in patients with primary adrenal insufficiency (PAI). METHODS: A cross-sectional study was conducted in 37 PAI patients treated with HC. BMD and selected bone turnover markers (ß-crosslaps and osteocalcin) were measured. A stepwise binary logistic regression model was applied to determine the independent variables associated with low BMD. RESULTS: Osteoporosis was noted in 14.3% and osteopenia in 34.3% of cases. These patients were older (p=0.01) and received higher daily HC dose compared to patients with normal BMD (p=0.01). BMD values in the lumbar spine and the femoral neck were negatively correlated with daily HC dose (r=-0.36, p=0.03 and r=-0.34, p=0.05, respectively). Plasma osteocalcin was negatively correlated with disease duration (r=-0.38, p=0.02) and cumulative HC dose (r=-0.43, p<0.01). In multivariate analysis, a daily HC dose ≥12 mg/m2/day was independently associated with a higher risk of osteopenia/osteoporosis [OR (95% CI), 9.0 (1.1-74.6); p=0.04]. CONCLUSIONS: Impaired bone mineralization in patients with PAI is correlated with HC dose. A daily HC dose ≥12 mg/m2/day was associated with an increased risk of osteopenia and osteoporosis in these patients.

Effects of High-Intensity Interval Training on Selected Adipokines and Cardiometabolic Risk Markers in Normal-Weight and Overweight/Obese Young Males-A Pre-Post Test Trial.

The study aimed to assess effects of high-intensity interval training (HIIT) on plasma adipokines and cardiometabolic markers in normal and excess weight youth. Eighteen healthy young males (18.2 ± 1.06 yrs.) were divided in normal-weight group (NWG; body mass index (BMI), 20.5 ± 1.51 kg/m2; n = 9) and excess-weight group (EWG; BMI, 30.8 ± 4.56 kg/m2; n = 9). Participants performed an eight-week HIIT program without caloric restriction. Body composition, plasma leptin, adiponectin, chemerin, omentin-1, lipids, C-reactive protein (CRP), and the homeostasis model assessment index for insulin resistance (HOMA-IR) were assessed before and after the HIIT program. The program resulted in significant increases in omentin levels (p < 0.01) in EWG (27%) and NWG (22%), but no changes in leptin, adiponectin, and chemerin in both groups. BMI (−1.62%; p = 0.015), body fat (−1.59%; p = 0.021), total cholesterol (−11.8%; p = 0.026), triglycerides (−21.3%; p = 0.023), and HOMA-IR (−31.5%; p = 0.043) decreased in EWG only. Repeated measures detected significant interaction "Time x Group" for body mass and BMI only. Eight-week HIIT program improved body composition, lipid profile, and insulin sensitivity in excess-weight individuals. It resulted in an increase in omentin levels in both normal- and excess-weight groups, but no changes in leptin, adiponectin, and chemerin. Body composition has not influenced the response of the four adipokines to HIIT.

Impact of Ramadan intermittent fasting on metabolic and inflammatory profiles in type 2 diabetic patients.

Purpose: The aim of this study was to assess the impact of Ramadan intermittent fasting on metabolic and inflammatory profiles in type 2 diabetic patients (T2D). Methods: It was a prospective study including 55 T2D patients treated with oral hypoglycemic drugs, who intended to observe Ramadan fasting in 2019. All participants underwent a questionnaire, a physical examination, laboratory investigations, and a cardiovascular risk assessment using the Framingham score before Ramadan (T0), immediately after Ramadan (T1), and two months after Ramadan (T2). Results: The mean age of participants was 54.5 ± 10.1 years. The number of fasted days was 29.3 ± 2.3 days. The mean total daily calorie intake decreased significantly by 19% during Ramadan (p < 10-3). A significant decrease in weight (79.8 ± 12.9 vs 78.4 ± 13.3 kg, p = 0.003), body mass index (29.8 ± 5.4 vs 29.2 ± 5.4 kg/m2, p = 0.004), waist circumference (98.2 ± 9.6 vs 96.3 ± 10.2 cm, p = 0.015), fat body mass (24.3 ± 9.4 vs 23.5 ± 9.7 kg, p = 0.043) was observed at T1. The weight loss was significantly correlated with the number of fasting days (r = 0.348, p = 0.009) and was maintained at T2. Serum fructosamine increased at T1 (303.6 ± 46 vs 333.49 ± 59.49 µmol/L, p < 10-3) and returned to its baseline levels at T2. A significant decrease in insulin (9.7 ± 5.5 vs 7.98 ± 5.05 mIU/L, p = 0.043), fibrinogen (3.7 ± 0.8 vs 3.4 ± 0.6 g/L, p = 0.003), and hs-CRP (4.8 ± 5.7 vs 3.7 ± 4.5 mg/L, p = 0.058) levels was observed at T1. Homocysteine level was significantly higher after Ramadan (12.2 ± 6.2 vs 13.5 ± 6.4 µmol/L, p = 0.001). However, no significant changes were found in blood pressure, fasting blood glucose, HOMA-IR, uric acid, lipids, and white blood cells count. The mean Framingham score decreased insignificantly after Ramadan. Conclusions: Ramadan fasting in T2D patients seems to have a favorable impact on anthropometric parameters and inflammatory profile. However, it may cause a transient worsening of glycemic control.

Anti Mullerian hormone as a diagnostic tool for polycystic ovary syndrome in women of reproductive age with morbid obesity.

OBJECTIVES: The aim of the study was to analyze the performance of the anti-mullerian hormone (AMH) level for the diagnosis of polycystic ovary syndrome in women with morbid obesity. STUDY DESIGN: A single-centre cross-sectional study was conducted in 50 women of reproductive age with a body mass index (BMI) ≥ 40 kg/m2. Each patient underwent a clinical examination, biological and hormonal assays, and an ovarian ultrasound between the third and the fifth day of the menstrual cycle. Polycystic ovary syndrome was diagnosed according to the Rotterdam's criteria. RESULTS: The mean age of participants was 34.2 ± 7.5 years. Polycystic ovary syndrome was diagnosed in 20 women (40%). Age and anthropometric parameters did not differ between women with and without polycystic ovary syndrome. The mean AMH level was significantly higher in women with polycystic ovary syndrome (3.4 ± 3.6 vs 1.3 ± 1.2 ng/ml, p=0.010). It was positively correlated with the Ferriman and Gallwey score (r=0.496, p=0.016), total testosterone level (r=0.524, p < 10-3) and the LH/FSH ratio (r=0.290, p=0.046). In women aged between 35 and 45 years, the optimum cut-off level for the diagnosis of polycystic ovary syndrome was 0.81 ng/mL, providing a sensitivity and a specificity of 90 and 71%, respectively with an area under the ROC curve of 0.857. CONCLUSIONS: AMH level was significantly higher in morbid obese women with polycystic ovary syndrome compared with those without polycystic ovary syndrome. Specific thresholds for this population must be assessed to improve the sensitivity and specificity of AMH for the diagnosis of polycystic ovary syndrome.

Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population.

BACKGROUND: This study investigated the association of angiotensin-converting enzyme (ACE I/D) and aldosterone synthase (CYP11B2-344C/T) gene polymorphisms in the renin-angiotensin-aldosterone system (RAAS) with atrial fibrillation (AF) in the Tunisian population. MATERIALS AND METHODS: The study population included 120 patients with AF and 123 age-matched controls. Genotyping of the I/D polymorphism in the ACE gene and the -344C/T polymorphism in the CYP11B2 gene was performed by polymerase chain reaction (PCR) and PCR-RFLP methods, respectively. RESULTS: The genotype distribution of the ACE I/D and CYP11B2-344C/T polymorphisms was significantly different between AF patients and control participants (p < 0.01 and p < 0.006 respectively). In addition, ACE I/D increased the risk of AF significantly by 3.41-fold for the DD genotype (OR = 3.41; 95% CI [1.39-8.34]; p < 0.007), and after adjusting for confounding factors (age, diabetes, hypertension, and dyslipidemia), the risk was higher (OR = 5.71; 95% CI [1.48-21.98]; p < 0.01). Likewise, the CYP11B2-344C/T polymorphism increased the incidence of AF for the TT genotype (OR = 3.66; 95% CI [1.62-8.27]; p < 0.002) and the CT genotype (OR = 2.68; 95% CI [1.22-5.86]; p < 0.01). After adjusting for confounding factors (age, diabetes, hypertension and dyslipidemia), the risk remained higher for the TT genotype (OR = 3.58; 95% CI [1.08-11.77]; p < 0.03). Furthermore, the haplotype-based association of the ACE I/D and CYP11B2-344C/T polymorphisms showed that the D-T haplotype increased the risk for AF. CONCLUSION: Our study suggests a significant association of the ACE (I/D) and CYP11B2-344C/T polymorphisms with AF in the Tunisian population.

Interval Training with Different Intensities in Overweight/Obese Adolescent Females.

To compare the effects of 12 weeks of high-intensity interval training (HIIT) versus moderate-intensity interval training (MIIT) on hematological and inflammatory markers in youth females, 38 overweight/obese females (16.4±1.0 yrs.) were randomly assigned to HIIT (2×6-8 repetitions of 30 s at 100-110% maximal aerobic speed (MAS), with 30 s active recovery between repetitions at 50% MAS; n=13), MIIT (2×6-8 repetitions of 30 s at 70-80% MAS, with 30 s active recovery between repetitions at 50% MAS; n=13), and a control group (CG, no intervention; n=12). Body composition, blood pressure, maximal heart rate, hematological and inflammatory markers (C-reactive protein [CRP], and erythrocyte sedimentation rate [ESR]) markers were assessed in all groups before and following the training program. Results revealed a significant (P<0.05) interaction effect for body composition, systolic blood pressure (SBP), MAS, maximal heart rate, and CRP. Within-group analyses for the HIIT and MIIT groups showed significant improvements in body mass (P=0.009 and P=0.025, respectively), BMI Z-score (P=0.011 and P=0.028, respectively), and MAS (P<0.001 and P=0.011, respectively). The HIIT program showed a significant decrease in body fat (P=0.002), waist circumference (P=0.002), maximal heart rate (P=0.003), SBP (P=0.001), and plasma CRP (P=0.004). In both groups, no significant changes were observed in ESR and hematological markers after intervention. No variable changed in CG. HIIT was the effective method to manage cardiometabolic health and inflammatory disorders in obese youth.