Association of selected adipokines with metabolic syndrome and cardio-metabolic risk factors in young males.

The study aimed to investigate association of circulating leptin, adiponectin, chemerin, and omentin-1 with metabolic syndrome (MetS) and cardio-metabolic risk factors in youths. Thirty eight young males were enrolled. Participants underwent anthropometric and blood pressure measures, and fasting blood sampling. Plasma leptin, adiponectin, chemerin, omentin-1 and insulin were measured by ELISA methods. Multiple linear regression models, adjusting for age, MetS traits, C-reactive protein (CRP) and homeostasis model assessment of insulin resistance (HOMA-IR), were applied to determine correlates for each adipokine. Eleven participants meet criteria of MetS. These individuals had higher leptin and chemerin and lower adiponectin plasma concentrations than those without MetS. Plasma leptin and chemerin were positively related, and adiponectin and omentin-1 were inversely related to cardio-metabolic traits. In multivariate models, predictors of leptin were age (ß, 0.20, P = 0.01), abdominal obesity (ß, 0.24, P = 0.06), raised blood pressure (ß, 0.40, P = 0.01), raised triglycerides (ß, 0.19, P = 0.01) and CRP (ß, 0.31, P = 0.01). Chemerin was associated with abdominal obesity (ß, 0.33, P = 0.09) and CRP (ß, 0.29, P = 0.04), and adiponectin was associated with raised triglycerides (ß, -0.26, P = 0.05), decreased HDL-C (ß, -0.28, P = 0.06) and CRP (ß, -0.48, P = 0.01). HOMA-IR (ß, -0.39, P = 0.09) was the only predictor for omentin. MetS is associated with an altered plasma adipokines profile, with increased leptin and chemerin and decreased adiponectin circulating levels. These findings suggest a beneficial potential of adiponectin and omentin, but a detrimental potential of leptin and chemerin. Further research is needed to lighten the role of adipose tissue-derived adipokines in cardio-metabolic health.

Nephrolithiasis in living kidney donor: experience of nephrologists.

BACKGROUND: Living kidney donation for transplantation has become common practice. The decisions to accept a donor with nephrolithiasis are becoming frequent. AIM: The aim of our study was to report our experience in the living donor kidney with asymptomatic lithiasis. METHODS: Over a period of 4 years from 2009 to 2013 we collected 18 cases. From the clinical, metabolic and radiological data, we have determined the etiology of urolithiasis in our patients and established, after a literature review, a decision tree of kidney donation. RESULTS: Our study included 10 women and 8 men with a mean age of 43 years. The nephrolithiasis was discovered incidentally during radiological assessment through the urinary tract without preparation in 1 case, the abdominal ultrasound in 6 cases and the abdominal CT scan in 11 cases. The donation of kidney in our study was performed in 1 case and disqualified in the others cases especially for metabolic abnormalities. In the single couple donor-recipient, after a follow up of 5 years; we have not identified adverse side effects either in the donor or in the recipient patient. CONCLUSION: In living donors with nephrolithiasis the final decision of renal transplantation must be based on the confrontation between the clinical, biological and radiological data. Metabolic disorders constituted the mainly contraindication of kidney donation in our patients.

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.

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.

Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian population.

BACKGROUND: NAD (P) H: quinone oxidoreductase (1) (NQO1-HGNC: 2874) and myeloperoxidase (MPO-HGNC: 7218) are two enzymes involved in phase II of the xenobiotic metabolism pathway. METHODS: In this study, a case-control analysis was conducted to investigate the relationship between genetic variations in the NQO1 (C609T, rs1800566; IVS1-27 C >G, rs689452) and MPO (G463A, rs2333227) genes and the risk for bladder cancer among Tunisian population. RESULTS: We have found that the MPO 463GA genotype was associated with a decreased risk of developing bladder cancer (p = 0.049; OR = 0.696; 95% CI 0.484-0.999). In contrast, we have found that the NQO1 609CT genotype could increase the risk of bladder cancer patients (p = 0.0039; OR = 1.454; 95% CI = 1.017-2.078). Moreover, patients with "NQO1 609 CT/IVS1-27 CG" genotype show a 2.180-fold increasing risk for developing bladder cancer in comparison to the control group with wild genotype. This OR is estimated at 5.6-fold in smokers patients with "NQO1 609 CT/IVS1-27 CG" genotype. Lastly, study findings suggest that the NQO1 IVS-27 *CG genotype (rs689452) is associated with a risk of progression to muscle invasive bladder cancer. CONCLUSION: Our study suggests that environmental risk factors in association to NQO1 genotypes (NQO1 609 CT/IVS1-27 CG) play an important role in the development of bladder cancer in Tunisian population.

Prevalence and risk factors of hypogonadism in men with chronic renal failure.

AIM: To determine the prevalence and the risk factors of hypogonadism in men with chronic renal failure (CRF). METHODS: We conducted a cross sectional analysis in 48 men with CRF. Total testosterone, prolactin, and gonadotropins were measured in all patients. Hypogonadism was defined by a low level (<10 nmol/l) or a low normal level (10-14 nmol/l) of total testosterone. RESULTS: The mean age was 53.31±10.22 years. Renal impairment was mild, moderate, severe and at end stage in 9,14,4 and 21 patients, respectively. Nineteen patients had been undergoing extra-renal purification. The average of total testosterone was 13.44±6.17 nmol/L. It was lower in patients with diabetic nephropathy (p=0.004). Hypogonadism was diagnosed in 22 patients (46 %). In this group, gonadotropins were normal in 21 cases and elevated in only one case. Hyperprolactinemia was retained in six patients. Type 2 diabetes (OR: 3.96; p=0.02) and diabetic nephropathy (OR=4.26; p=0.01) were the only risk factors of hypogonadism in our patients. CONCLUSION: Our results had demonstrated a high prevalence of hypogonadism in males with chronic renal failure. This hormone disorder was associated with type 2 diabetes and diabetic nephropathy.

Prevalence of vitamin D deficiency in mothers and their newborns in a Tunisian population.

OBJECTIVE: To assess vitamin D status in mothers and their newborns and identify predictive factors of vitamin D deficiency. METHODS: A cross-sectional study was undertaken of healthy women and their full-term newborns delivered at the Charles Nicolle Hospital, Tunis, Tunisia, between October and November 2012. Maternal and neonatal serum 25-hydroxy vitamin D (25(OH)D) concentrations were measured. Correlations were tested. RESULTS: Overall, 87 mothers and their newborns were enrolled. No mother or neonate had an adequate vitamin D status. Mean maternal and neonatal serum 25(OH)D concentrations were 6.82±5.14ng/mL (range 3.60-23.77) and 5.92±4.15ng/mL (range 3.60-22.28), respectively. Vitamin D deficiency (serum 25(OH)D<20ng/mL) was found in 84 (97%) mothers and 85 (98%) neonates, of whom 76 (87%) and 78 (90%), respectively, had severe deficiency (serum 25(OH)D<12ng/mL). Maternal serum 25(OH)D showed a strong positive correlation with neonatal serum 25(OH)D (r=0.69, P<0.001). Maternal dietary vitamin D intake was the only factor shown to be associated with serum 25(OH)D concentrations (P<0.05). CONCLUSION: Vitamin D deficiency is prevalent among Tunisian mothers and their neonates.

Early complication in Sickle Cell Anemia children due to A(TA)_n TAA polymorphism at the promoter of UGT1A1 gene.

AIM: To determine the implication of the polymorphism namely A(TA)nTAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients. MATERIAL AND METHODS: Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)_{n} TAA at the UGT1A1 promoter and the relationships between the various A(TA)_{n} TAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis. RESULTS AND DISCUSSION: The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carried variant (TA)_{7} and hyperbilirubinemia (p< 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)_{7}/(TA)_{7} and (TA)_{7}/(TA)_{8} with p=8.1 × 10^{ - 8} and p=0.01 respectively. (TA)_{7} and (TA)_{8} allele variants act as a risk factor for early gallstones formation in SCA patients with p=5.8 × 10^{ -9} and p=0.01 respectively. As for the control group only the genotype (TA)_{7}/(TA)_{7} presented a risk factor for gallstones formation. CONCLUSION: The novelty of this report is that it is the first time that a similar study was made on the Tunisian children sickle cell population and that the results show a clear association of (TA)_{7} variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)_{8} variant as well, which was not found in previous studies.

Early complication in sickle cell anemia children due to A(TA)nTAA polymorphism at the promoter of UGT1A1 gene.

AIM: To determine the implication of the polymorphism, namely, A(TA)nTAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients. MATERIAL AND METHODS: Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)nTAA at the UGT1A1 promoter and the relationships between the various A(TA)nTAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis. RESULTS AND DISCUSSION: The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carrying variant (TA)7 and hyperbilirubinemia (P < 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)7/(TA)7 and (TA)7/(TA)8 with P = 8.1 × 10⁻8 and P = 0.01, respectively. (TA)7 and (TA)8 allele variants act as a risk factor for early gallstones formation in SCA patients with P = 5.8 × 10⁻9 and P = 0.01, respectively. As for the control group only the genotype (TA)7/(TA)7 presented a risk factor for gallstones formation. CONCLUSION: The novelty of this report is that it is the first time that a similar study was made on the Tunisian children sickle cell population and that the results show a clear association of (TA)7 variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)8 variant as well, which was not found in previous studies.