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We report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years. Fourteen years later, he developed an autoantibody-negative type 1 diabetes mellitus. Cacci-Ricci's disease was revealed by terminal hematuria and considered in view of the appearance found on the computed tomography (CT) scan. The finger-prick blood glucose level was 6 g/dl with no acetonuria. Creatinine clearance was 60 ml/min. Thyroid function tests were normal. Calcium, phosphorus and parathormone (PTH) levels were normal. Discussion: Gitelman syndrome is a rare disorder. The association between Gitelman syndrome and type 1 diabetes mellitus has been reported in the literature in two patients. Authors have investigated the association between Gitelman syndrome and type 2 diabetes mellitus. Several pathophysiological explanations have been put forward. Cacci-ricci disease is a rare, benign congenital anomaly. No association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease has been reported in the literature. To our knowledge, this is the first case described in the literature.
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BACKGROUND: In Tunisia, the prevalence of diabetes mellitus increased from 15.5% on 2016 to 23% by 2023. While Chronic Kidney Disease (CKD) stills the most dreaded complications of diabetes, studies on the prevalence of chronic kidney disease non-dialysis diet are scarce. The aim of this study was to assess the prevalence of chronic kidney disease among the Tunisian diabetic population based on investigators' specialty, demographic criteria (gender, age, duration of diabetes and geographic distribution) and diagnosis criteria (albuminuria and/or eGFR). METHODS: This observational, multicentric, and cross-sectional study enrolled all diabetic subjects from all regions of Tunisia with at least 3 months of follow-up before the inclusion date, from 09 January to 08 February 2023. CKD diagnosis was established based on the KDIGO guidelines. The study was carried out at medical departments and ambulatory clinics of different healthcare providers. Baseline data were collected by investigators using an electronic case report form (eCRF). Continuous variables were described by means, median, standard deviation, and quartiles. Categorical data were tabulated in frequencies and percentages. RESULTS: The overall prevalence of CKD among the 10,145 enrolled patients with diabetes mellitus was 38.7% with a 95%CI [37.8-39.6%]. 50.9% were male, with a mean age of 67.5 (± 11.3) years. The mean diabetes duration was 16.1 years (± 8.9). The highest CKD prevalence was noted among nephrologists (82.2%), while it was similar between the cardiologists and the primary care physicians (30.0%). CKD prevalence was highest among males (43.0% versus 35.1%) and increased proportionally with patients' age and diabetes duration. CKD was more frequent in the Mid-East Area when compared to other regions (49.9% versus 25.3 to 40.1% in other regions). Albuminuria was present within 6.6% of subjects with CKD, and it was found an estimated glomerular filtration rate (eGFR) < 60 ml/min/1.73 m² within 13.3% of subjects wit h CKD. 18.9% had both criteria. CONCLUSIONS: In Tunisia, CKD among diabetics had a prevalence of 38.7%, approaching European prevalence. The prevalence discrepancy worldwide of CKD can be improved with a larger population size and by implementing standardized practices.
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Diabetes Mellitus , Nefropatías Diabéticas , Insuficiencia Renal Crónica , Anciano , Femenino , Humanos , Masculino , Albuminuria/diagnóstico , Estudios Transversales , Nefropatías Diabéticas/diagnóstico , Tasa de Filtración Glomerular , Prevalencia , Insuficiencia Renal Crónica/diagnóstico , Factores de Riesgo , Persona de Mediana EdadRESUMEN
This study aimed to assess the efficacy of Nitraria retusa extract (NRE) in reducing weight, body mass index (BMI), body fat composition (BF), and anthropometric parameters among overweight/obese women, comparing the results with those of a placebo group. Overweight/obese individuals participated in a 12-week, double-blind, randomized, placebo-controlled trial. Body weight, BMI, body composition, and anthropometric parameters were assessed. Additionally, lipid profile and safety evaluation parameters were evaluated. Compared to the placebo group, the NRE group exhibited a mean weight loss difference of 2.27 kg (p < 0.001) at the trial's conclusion. Interestingly, the most significant weight reduction, amounting to 3.34 kg ± 0.93, was observed in younger participants with a BMI > 30.0. Similarly, BMI and BF% significantly decreased in the NRE group, contrary to the placebo group (p = 0.008 and p = 0.005, respectively). The percentage of body water (BW) (p = 0.006) as well as the ratio of LBM/BF (p = 0.039) showed a significant increase after the NRE intervention compared to the placebo. After age adjustment, all variables, except LBM/BF, retained statistical significance. Additionally, all anthropometric parameters were significantly reduced only in the NRE group. Most importantly, a significant reduction in Triglyceride (TG) levels in the NRE group was revealed, in contrast to the placebo group (p = 0.011), and the significance was still observed after age adjustment (p = 0.016). No side effects or adverse changes in kidney and liver function tests were observed in both groups. In conclusion, NRE demonstrated potent antiobesity effects, suggesting that NRE supplementation may represent an effective alternative for treating obesity compared to antiobesity synthetic drugs.
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Fármacos Antiobesidad , Magnoliopsida , Obesidad , Extractos Vegetales , Femenino , Humanos , Fármacos Antiobesidad/uso terapéutico , Composición Corporal , Índice de Masa Corporal , Método Doble Ciego , Obesidad/tratamiento farmacológico , Sobrepeso/tratamiento farmacológico , Proyectos Piloto , Extractos Vegetales/uso terapéutico , FitoterapiaRESUMEN
Globularia alypum L. (GA) belonging to the Globulariaceae family is a Mediterranean plant which is widely used in traditional Tunisian medicine. The aim of this study was to investigate the phytochemical composition, antioxidant, anti-arthritic, antiproliferative, antibacterial and antibiofilm potential of aqueous GA leaf extracts (AGAL). Quantitative analyses of the different constituents of extracts were evaluated by high-performance liquid chromatography with photodiode-array detection (HPLC-DAD). Spectrophotometric methods and chemical tests were used for antioxidant and anti-arthritic activities. The antiproliferative study was evaluated using colorectal cancer SW620 cells, while the antibacterial assessment and analysis of the antibiofilm effects were determined by the microdilution method and the crystal violet assay, respectively. AGAL extracts presented several components, mainly Nepetin-7-Glucoside and trans-ferrulic acid. The results showed that they had an important antioxidant (IC50 = 0.34; 0.38 and 1.20 mg/mL) and anti-arthritic (IC50 = 2.94 mg/mL) properties, and these effects are displayed in a dose-dependent manner. In addition, this extract demonstrated significant antiproliferative (IC50 = 50 µg/mL), antibacterial (MIC = 6.25 mg/mL and MBC = 6.25 mg/mL), and antibiofilm (59.70% at 25 mg/mL) properties especially against S. aureus. The results achieved confirm the important role of this plant as a source of therapeutic activities.
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In the present study, we aimed to explore the feasibility, compliance, and potential benefits of Nitraria retusa extract (NRE) intervention in both healthy (BMI ≤ 24.9 Kg/m2) and overweight/obese adults (BMI > 25 Kg/m2). A total of 98 participants, including 37 healthy individuals and 61 overweight/obese adults, were randomly assigned to either a low-dose (500 mg/day) or a high-dose (2000 mg/day) NRE intervention group. Plasma lipid biomarkers, liver and kidney functions, general hematology, and blood glucose levels were measured at the baseline and 10 days after intervention. While the lipid profile of the healthy participants did not show any statistically significant changes, the obese participants in the high-dose group experienced a significant decrease in triglyceride levels (within-group difference p value = 0.004) and an increase in HDL levels (within-group p value < 0.001). No significant differences were observed in other parameters, indicating that NRE at the given doses was safe. Furthermore, the study had impressive compliance and acceptability, with over 90% of participants completing the intervention and diligently following the study protocol. This pilot study represents the first investigation into the feasibility, acceptability, and potential benefits of NRE intervention on lipid profiles in human volunteers.
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Magnoliopsida , Sobrepeso , Adulto , Humanos , Proyectos Piloto , Obesidad , Lípidos , TéRESUMEN
BACKGROUND: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. METHODS: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed. RESULTS: Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients. CONCLUSION: Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD.
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Aciltransferasas , Disgenesia Gonadal 46 XY , Factores de Transcripción SOXE , Desarrollo Sexual , Testículo , Ubiquitina-Proteína Ligasas , Femenino , Humanos , Masculino , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Aciltransferasas/genética , Disgenesia Gonadal 46 XY/genética , Proteínas de la Membrana/genética , Mutación , Fenotipo , Diferenciación Sexual , Desarrollo Sexual/genética , Factores de Transcripción SOXE/genética , Testículo/crecimiento & desarrollo , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
INTRODUCTION: Quality of life preservation is crucial in the management of chronic diseases, in particular diabetes. AIM: To identify risk factors for the impaired quality of life of Tunisian diabetic patients. METHODS: A cross-sectional study that collected type 1 and type 2 diabetic patients, selected by convenience sampling was conducted. Diabetic patients received a self-administered questionnaire in Arabic containing general and clinical data and a validated Arabic version of the "Diabetes Health Profile -18". RESULTS: Three hundred and thirty-three type 1 and type 2 diabetic patients, whose age was ≥ 40 years in 78.1% of cases with a sex ratio of 0.94, were collected. The answers to the questionnaire highlighted a globally impaired quality of life for the diabetic patients with an average of 30.21 (7.06). Binary regression analysis presented globally significant models reflecting impairment risk factors for diabetic patients' quality of life. Female gender (AOR= 1.7; p= 0.036), comorbidities associated with diabetes (AOR = 1.23; p<10-3), diabetes complications (AOR= 1.45; p=0.041) and irregular medical follow-up (AOR=4.19; p<10-3) were risk factors for impaired diabetic patients' quality of life. CONCLUSION: This study underlines the major role of a holistic diabetic patient care for better identification and management of risk factors of impaired quality of life.
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Diabetes Mellitus Tipo 2 , Calidad de Vida , Humanos , Femenino , Adulto , Estudios Transversales , Túnez/epidemiología , Factores de Riesgo , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiologíaRESUMEN
Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. Autoimmune diseases related to XP are rarely discussed in the literature. Type 1 diabetes (T1D) has been associated with other genodermatoses like Cockayne syndrome, but it has never been described in XP. In the present study, we report the rare occurrence of T1D in XP patients. Five XP patients belonging to 4 consanguineous families originating from different regions of Tunisia were investigated. Their ages ranged between 8 and 18 years. All the patients had a severe hypovitaminosis D. All the patients had positive GAD antibody levels, and 4 of them had familial history of other autoimmune diseases. The spectrum of XP was variable in all the patients, with dermatological and neurological symptoms, and the occurrence of some cancers. Various hypotheses have been proposed to explain this association, among of which we cite the role of immunomodulation and down-regulation of ATP-dependent DNA excision repair protein genes, implying that impaired DNA repair may contribute to the development of some autoimmune diseases. Vitamin D3 deficiency secondary to sun protective measures was found in all patients and thus may play a role in increasing T1D risk in these patients.
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Diabetes Mellitus Tipo 1 , Xerodermia Pigmentosa , Adenosina Trifosfato , Adolescente , Niño , Colecalciferol , ADN , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/genética , Humanos , Xerodermia Pigmentosa/complicaciones , Xerodermia Pigmentosa/genética , Xerodermia Pigmentosa/metabolismoRESUMEN
PURPOSE: Effective interventions are needed to help adolescents with T1D develop independent self-management skills to prevent commonly observed deterioration of disease self-management resulting in poor health outcomes. Using a prospective RCT design, we assessed the impact of a nurse-led education program based on motivational interviewing (MI) in youth with Type 1 diabetes (T1D). DESIGN AND METHODS: After parental consent and youth assent, we prospectively randomized 66 adolescents 13-18 years old with T1D to either usual care (every 3 months visit with pediatric endocrinologist) or usual care supplemented by 2 in-person and 4 follow-up phone calls with a nurse educator in a pediatric endocrinology clinic of the University Hospital Farhat Hached, Sousse, Tunisia. We used MI sessions to support youth general and disease specific self-management skills. Outcomes were change, between baseline and 6 months, in TRAQ (a validated measure of youth self-management) scores and HbA1c values. RESULTS: Mean TRAQ scores (based on a 5-point Likert scale) increased by 1.44 points (s.d. = 0.56) in the Intervention Group versus 0.26 points (s.d. = 0.34) in the control group (p < 0.001). The mean HbA1C value decreased in the intervention group by 0.95 units versus a decrease of 0.12 units in the control group (p = 0.047). CONCLUSION: We found that a brief, nurse-led MI-based educational intervention, integrated into specialty pediatric care, resulted in a significant improvement in both self-reported self-management skills and in HbA1c values. TRIAL REGISTRATION: Registered in ClinicalTrials.gov Identifier: NCT04798937.
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Diabetes Mellitus Tipo 1 , Entrevista Motivacional , Automanejo , Adolescente , Hemoglobina Glucada , Humanos , Estudios ProspectivosRESUMEN
BACKGROUND: Although it takes more time, the Glucagon Stimulation Test (GST) is a reliable measure for assessing growth hormone (GH) and Adrenocorticotropic Hormone (ACTH) secretion. The GST is considered to be a safe test; however, it still has mild side effects and potential risks. OBJECTIVES: The objective of this study was to analyze the side effects of the GST while testing adrenal-insufficient patients. METHODS: This was a prospective study in which GST was performed in eighty-one patients (44 men, 37 women, mean age: 35.83A9.62 years) with the pituitary disorder. The GST consisted of an intramuscular injection of 1 mg of glucagon. Blood samples were collected at baseline, and 30, 60, 90, 120, 150, 180, and 210 min after glucagon injection for cortisol measurements. All patients were asked to report side effects associated with this test. RESULTS: The mean peak blood glucose level under GST was 9.01A.03 mmol/L, and the mean glycemic nadir was 4.34A.75 mmol/L most frequently found during the 30th minute (p <10-3). During the test, 35 subjects (43.2%) had side effects with a mean age of 42.89 A19.75 years. Frequent side effects included: nausea (29.62%), vomiting (27.16%), abdominal cramps (18.51%) and hunger (13.58%). All patients tolerated the test until the end. Adverse effects were significantly more prevalent in patients older than 50 years (p=0.012). CONCLUSIONS: The GST is a reliable alternative to assess the hypothalamic pituitary adrenal axis but should be cautiously used especially in the elderly, despite minor side effects.
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Insuficiencia Suprarrenal , Glucagón , Insuficiencia Suprarrenal/inducido químicamente , Insuficiencia Suprarrenal/diagnóstico , Adulto , Anciano , Niño , Femenino , Glucagón/efectos adversos , Humanos , Hidrocortisona , Sistema Hipotálamo-Hipofisario , Masculino , Sistema Hipófiso-Suprarrenal/fisiología , Estudios Prospectivos , Adulto JovenRESUMEN
Acromegaly is, in most cases, caused by growth hormone secreting pituitary adenomas. Those patients often develop different pathologies of the thyroid gland, however, the occurrence of Grave´s disease is quite a rare situation. We report a case of a 64-year-old female patient who presented with signs of hyperthyroidism and imbalance of her diabetes mellitus. On physical examination, she had facial features of acromegaly. Biochemical testing confirmed the suspicion of acromegaly and Grave´s disease, with an elevated insulin-like growth factor-1 and a suppressed thyroid stimulation hormone (TSH) with positive TSH-receptor antibodies. A pituitary Magnetic Resonance Imaging (MRI) was performed, revealing a macro-adenoma and an empty sella. The patient successfully underwent a transsphenoidal surgery and obtained a remission of her hyperthyroidism under anti-thyroid drugs.
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Acromegalia/diagnóstico , Síndrome de Silla Turca Vacía/diagnóstico por imagen , Enfermedad de Graves/diagnóstico por imagen , Adenoma Hipofisario Secretor de Hormona del Crecimiento/diagnóstico por imagen , Antitiroideos/administración & dosificación , Diabetes Mellitus/fisiopatología , Femenino , Adenoma Hipofisario Secretor de Hormona del Crecimiento/cirugía , Humanos , Hipertiroidismo/diagnóstico , Hipertiroidismo/tratamiento farmacológico , Factor I del Crecimiento Similar a la Insulina/metabolismo , Imagen por Resonancia Magnética , Persona de Mediana Edad , Tirotropina/metabolismoRESUMEN
AIMS AND METHODS: Prolactinomas are a common cause of sexual dysfunction and infertility. We aimed, through this case report, to illustrate the difficulties of management of women with giant prolactinoma, especially in cases of desire of pregnancy. RESULTS: A 30-year-old woman was referred to our department for secondary amenorrhea. Investigations showed a prolactin level of 5168 ng/mL and giant pituitary adenoma of 4 cm in diameter. Cytoreductive surgery was performed after failure to normalize prolactin levels during three years with medical treatment by cabergoline. After seven months, menstrual cycles have resumed, and after 13 months, the patient became pregnant. At 22nd week of gestation, she was admitted in our hospital for pituitary apoplexy. Medical treatment with bromocriptine was chosen. The vaginal premature delivery at 28 weeks gave birth to twins weighing 1 Kg each who died on the 7th day of life. CONCLUSION: This is a relevant clinical case that illustrates the efficacy of cytoreductive surgery in case of insufficient response to dopamine agonists to restore gonadal function. The possibility of a pregnancy should be considered in these patients since it can be associated with high maternal and fetal risks.
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Apoplejia Hipofisaria/complicaciones , Neoplasias Hipofisarias/complicaciones , Complicaciones Neoplásicas del Embarazo/fisiopatología , Embarazo Gemelar , Prolactinoma/complicaciones , Adulto , Cabergolina/uso terapéutico , Procedimientos Quirúrgicos de Citorreducción , Resultado Fatal , Femenino , Humanos , Infertilidad/etiología , Imagen por Resonancia Magnética , Apoplejia Hipofisaria/diagnóstico , Apoplejia Hipofisaria/fisiopatología , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/terapia , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/patología , Nacimiento Prematuro , Prolactina/sangre , Prolactinoma/patología , Prolactinoma/terapiaRESUMEN
Menopausal hormonal changes have been associated with the emergence of the metabolic syndrome (MetS) and its consequences such as type 2 diabetes (T2D) and cardiovascular diseases (CVD). The common gene signature and the associated signaling pathways of MetS, T2D, CVD and menopause status have not been widely studied. We analyzed a total of 314 women aged between 35 and 75 years. The sample was divided into two groups: Group I, including women in the premenopausal period and Group II, comprising women in the post-menopausal period. The presence of MetS and its components were evaluated, as well as occurrence of T2D and CVD in both groups. We also exploited the translational bioinformatics approach to choose the common gene signatures for MetS, T2D, CVD and the menopause status. The frequency of the MetS was significantly higher in postmenopausal women than in premenopausal ones (67.1 vs. 27.2%, p < 0.001). Gene mining analysis revealed that a total of 47 genes were commonly associated with MetS, T2D, CVD and the menopausal changes. The gene enrichment analysis showed that these genes were markedly enriched in biological processes, including positive regulation of binding, positive regulation of leukocyte cell-cell adhesion, regulation of lipid localization. Furthermore, P53 signaling pathway, prolactin signaling pathway, parathyroid hormone synthesis, secretion and action were the top enriched pathways. Additionally, network analysis revealed TGFB1, SPP1, MMP2, MMP9, CCL2, IGF1, EGFR, ICAM1, TNF and IL6 as important hub genes with significant interacting partners. These hub genes identified in our study may play key role in menopausal changes and influence the risks of MetS, T2D and CVD.
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Diabetes Mellitus Tipo 2 , Síndrome Metabólico , Adulto , Anciano , Biología Computacional , Femenino , Humanos , Menopausia , Síndrome Metabólico/genética , Persona de Mediana Edad , Posmenopausia , Factores de RiesgoRESUMEN
CONTEXT: Diabetic foot trophic disorders and their complications leading to the risk of amputation remain a major public health problem. OBJECTIVE: To determine the level of podiatric risk in our diabetic patients according to the classification of the International Working Group of the Diabetic Foot (IWGDF) and study the relationship between the level of education and the level of podiatry risk.. METHODS: This is a descriptive and analytical cross-sectional study including all diabetics hospitalized at the National Institute of Nutrition in Tunis for chronic diabetes imbalance, carried out over a period of two months (July - August 2019). RESULTS: The mean age of the patients was 55.08 ± 14.22 years. The sex ratio was 0.67. The majority of our patients were type 2 diabetics (90.24%). During the clinical examination of the foot, plantar hyperkeratosis was the most noted manifestation (65.85%). Based on the IWGDF classification, 42.68% of patients had a grade 0 podiatric risk. Regarding the overall educational level, we noted 76.83% patients with a poor educational level and 23.17% patients with a satisfactory level of education. The overall educational level is significantly associated with the podiatric grade (p <0.05). CONCLUSIONS: Therapeutic education or even podiatric education of the patient is important in the prevention of complications of the foot. Patient-centered training in foot care practice in public health facilities would reduce the rate of morbidity and mortality from complicated diabetic foot.
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Diabetes Mellitus , Pie Diabético , Podiatría , Adulto , Anciano , Amputación Quirúrgica , Estudios Transversales , Pie Diabético/diagnóstico , Pie Diabético/epidemiología , Escolaridad , Humanos , Persona de Mediana EdadRESUMEN
The presence of prostatic tissue, in addition to uterus and adrenal tumors, is possible in 46XX patients with CAH. Lesions of these organs are usually benign. However, complications including prostate and adrenal cancer were also reported.
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PURPOSE: To characterize small supernumerary marker chromosomes (sSMC) in infertile males RESEARCH QUESTION: Are molecular cytogenetic methods still relevant for the identification and characterization of sSMC in the era of next-generation sequencing? METHODS: In this paper, we report five males with oligoasthenozoospermia or azoospermia with a history of recurrent pregnancy loss in partnership in four cases. R-banding karyotyping and fluorescence in situ hybridization (FISH) analysis were performed and showed sSMC in all five cases. Microdissection and reverse-FISH were performed in one case. RESULTS: One sSMC, each, was derived from chromosome 15 and an X-chromosome; two sSMC were derivatives of chromosome 22. The fifth sSMC was a ring chromosome 4 complemented by a deletion of the same region 4p14 to 4p16.1 in one of the normal chromosomes 4. All markers were mosaics except one of sSMC(22). CONCLUSION: Through this study, we emphasize the necessity of a proper combination of high-throughput techniques with conventional cytogenetic and FISH methods. This could provide a personalized diagnostic and accurate results for the patients suffering from infertility or RPL. We also highlight FISH analyses, which are essential tools for detecting sSMC in infertile patients. In fact, despite its entire composition of heterochromatin, sSMC can have effects on spermatogenesis by producing mechanical perturbations during meiosis and increasing meiotic nondisjunction rate. This would contribute to understand the exact chromosomal mechanism disrupting the natural and the assisted reproduction leading to offer a personalized support.
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Aborto Habitual/genética , Cromosomas Humanos , Marcadores Genéticos , Infertilidad Masculina/genética , Adulto , Azoospermia/genética , Bandeo Cromosómico , Hibridación Genómica Comparativa , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Masculino , Persona de Mediana EdadRESUMEN
Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with 11-Beta-hydroxylase deficiency. The disorder was revealed by peripheral precocious puberty between the age of 2-3 years in males and by the virilization of the external genitalia in females. Genetics finding a homozygous p.Gly379Val mutation in the CYP11B1 gene. All patients received hydrocortisone supplementation therapy and mineralocorticoid-receptor antagonist. The females underwent a surgical correction of the ambiguous genitalia at the neonatal age. Long term follow-up revealed metabolic syndrome, obesity and hypertension in the first two patients, an impaired final height in the two females and hypokalemia in three patients.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Esteroide 11-beta-Hidroxilasa/genética , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/fisiopatología , Adulto , Niño , Femenino , Estudios de Seguimiento , Humanos , Hidrocortisona/administración & dosificación , Masculino , Antagonistas de Receptores de Mineralocorticoides/administración & dosificación , Mutación , Pubertad Precoz/etiología , TúnezRESUMEN
BACKGROUND: Shift work is a source of health problems for workers around the world. The metabolic syndrome is one of the pathologies that can occur because of this work pattern. AIMS: Investigate possible association between shift work and the development risk of the metabolic syndrome (MS). METHODS: A cross-sectional study was conducted among male gender agents of company of electricity production in the Center of Tunisia. This population was divided into two groups according to the organization of their work: a group of shift workers and a group of non-shift workers. Data collection was based on a questionnaire, a clinical examination and a biological assessment. The definition of International Diabetes Federation 2005 (IDF) was adopted to retain the diagnosis of the MS. RESULTS: A total of 263 agents responded to our invitation with a participation rate of 65.5%. The shift workers group accounted for 48.3% of the participants and the fixed workers group accounted for 51.7% of the participants. The diagnosis of MS was retained in 51.2% of shift workers and 27.2% of non-posted workers, with a statistically significant difference (p <10-3). This association persisted after adjusting for the confounding variables with an OR of 2.64 [1.38-5.04]. CONCLUSION: Our study underlined a higher risk of MS development among shift workers. These findings highlight the importance of taking specific preventive measures. This prevention is based not only on hygieno-dietetic measures and regular physical activity, but also the improvement of working conditions.
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Síndrome Metabólico/epidemiología , Horario de Trabajo por Turnos/estadística & datos numéricos , Estudios Transversales , Humanos , Masculino , Factores de Riesgo , Túnez/epidemiologíaRESUMEN
Fasting during the month of Ramadan is one of the essential beliefs amongst Muslims. For the person with diabetes mellitus (DM), however, fasting presents a major challenge. Indeed, Fasting Ramadan may predispose patients with DM to several risks such as hypoglycemia, hyperglycemia and dehydration. Physicians should be ready to prepare their patients to this period in order to avoid risks. This paper provides physicians with 10 pitfalls to avoid when educating patients with DM who decided to fast Ramadan.