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1.
Metab Syndr Relat Disord ; 22(2): 85-89, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38232370

RESUMEN

The metabolic profile during prolactinoma may be subject to significant changes. We aimed to describe the different metabolic aspects in patients monitored for prolactinoma and to study the correlations between the size of the prolactinoma and the metabolic parameters. We conducted a retrospective, descriptive, and analytical study of 77 cases of prolactinomas collected and monitored at the endocrinology and diabetology department of the Hedi Chaker Hospital in Sfax between 2000 and 2017. Our patients were divided into three groups according to the size of their prolactinomas. Statistical correlations were sought between tumor size and clinical and biological parameters. The mean age of our patients was 38.3 ± 14.2 years. They were divided into 51 women (66.2%) and 26 men (33.7%). Pituitary tumor syndrome was the most common circumstance of discovery in our population (62.3%). The clinical examination revealed an average waist circumference of 95.71 cm. Android fat distribution was observed in 25 women (49%) and 12 men (46.1%). A statistically significant positive correlation was objectified between waist circumference and tumor size (r = 0.29 and P = 0.019). The average body mass index was 28.08 kg/m2. Obesity was noted in 56 cases (72.7%). Glucose tolerance disorders and hypertriglyceridemia were also more evident each time prolactinoma size increased in contrast to the level of high-density lipoprotein cholesterol which decreased with adenoma size. Our study highlighted the metabolic and hormonal repercussions of prolactinomas. Metabolic syndrome was more common in patients with larger prolactinoma. These results should guide the initial assessment and therapeutic management of prolactin adenomas.


Asunto(s)
Adenoma , Síndrome Metabólico , Neoplasias Hipofisarias , Prolactinoma , Masculino , Humanos , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Prolactinoma/epidemiología , Prolactinoma/tratamiento farmacológico , Prolactinoma/metabolismo , Estudios Retrospectivos , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/tratamiento farmacológico , Obesidad/epidemiología , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología
2.
Chin Neurosurg J ; 9(1): 17, 2023 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-37391784

RESUMEN

BACKGROUND: Pituitary apoplexy (PA) is defined as the hemorrhage or the infraction of a pituitary adenoma. Aiming to determine the epidemiological, clinical, paraclinical characteristics as well as management and outcomes of PA in our population, we conducted this cross-sectional study. METHODS: This cross-sectional study was conducted at the Department of Endocrinology of Hedi chaker university hospital, Sfax. Data was collected from medical charts of patients with pituitary apoplexy admitted in our department between 2000 and 2017. RESULTS: We included 44 patients with PA. Their mean age was 50 ± 12.6 years. Among them, 31.8% had a known pituitary adenoma, and it was in all cases a macroadenoma, predominantly a prolactin secreting tumor (42.8%). A triggering factor of PA was encountered in 31.8% of cases and it was mainly: head trauma, dopamine antagonists, and hypertension. The clinical presentation of PA encompassed headaches (84.1%), visual disturbances (75%), and neurological signs (40.9%). Gonadotropin deficiency was the most frequent form of hypopituitarism noted (59.1%), followed by corticotropin deficiency (52.3%), thyrotropin deficiency (47.7%), and somatotropin deficiency (2.3%). Hormonal assessment at PA onset, concluded that 23 had a secreting adenoma: 18 prolactinomas, 3 ACTH-secreting adenomas, and 2 GH-secreting adenomas. In the 21 remaining cases, the tumor was non-functioning (47.7%). Pituitary MRI was performed in 42 cases (95.5%), revealing infraction and or hemorrhage in the pituitary gland in 33 cases; a heterogenous signal or a fluid level within the adenoma, in nine cases. Urgent administration of intra venous hydrocortisone was required in 19 cases. Mannitol administration was mandatory in a patient who had severe intracranial hypertension. Surgical management of the PA was imperative in 24 patients (54.5%): 15 suffered from severe visual impairment, 4 had an intracranial hypertension, 2 cases demonstrated an impaired consciousness, 2 patients experienced a tumor enlargement and one case had a severe Cushing's disease. Operative complications found were rhinorrhea attributable to cerebral spinal fluid leakage, insipidus diabetes associated with rhinorrhea, isolated insipidus diabetes, and hydrocephalus in one case each. Long-term follow-up concluded that headaches persisted in five cases, owing to the tenacity of a macroprolactinoma regardless of cabergoline treatment in one case, the recurrence of an adenoma in two cases and its persistence despite the medical and the surgical treatment in two patients. Concerning the visual acuity defects, only two patients had persistent diminished visual acuity at long-term follow-up. Among 25 patients, 13 were diagnosed with definitive thyrotropin deficiency. Similarly, 14 patients had persistent corticotropin deficiency (CD). Additionally, CD was de novo diagnosed in two patients. Otherwise, gonadotropin deficiency prevailed in all cases. Persistent prolactin deficiency was seen in two patients. Disappearance of the pituitary tumor was encountered in 11 out of 24 cases at long-term follow-up. Overall, surgery was associated with better outcome than conservative management. Pituitary apoplexy is a challenging condition due to its variable course, its diagnosis difficulty and management, as gaps remain to determine the best approach to treat this condition. CONCLUSIONS: To conclude, pituitary apoplexy is a challenging condition due to its variable course, its diagnosis difficulty and management, as gaps remain to determine the best approach to treat this condition. Further studies are thus needed.

3.
Artículo en Inglés | MEDLINE | ID: mdl-37227189

RESUMEN

Summary: A 55-year-old patient was admitted to our department for the management of a repetitive alteration of consciousness. Biological investigation results were consistent with endogenous hyperinsulinemic hypoglycemia. Insulinoma was therefore suspected. Abdominal computed tomography and endoscopic ultrasound showed no obvious pancreatic mass.Somatostatin receptor scintigraphy showed abnormal radioactive uptake in both the pancreatic tail and the uncinate process. Contrariwise, abdominal magnetic resonance imaging showed a unique lesion in the pancreas tail. The patient was then proposed for pancreatic surgery. Both intraoperative manual palpation and intraoperative ultrasonography of the pancreas showed a single corporal lesion of 1.5 cm. No lesion was found in the uncinate process. After a left pancreatectomy, the lesion was histopathologically confirmed to be a well-differentiated neuroendocrine tumor. The symptoms of the patient resolved almost immediately following the surgery. The follow-up is one and a half years to date. Learning points: The exact preoperative localization of the pancreatic mass remains the most challenging part of insulinoma diagnostic workup. The radiologist's experience is the best warrantor to a precise localization of the tumor. 111In-DTPA-octreotide uptake in the pancreatic uncinate process may be physiological and its interpretation must, therefore, be vigilant. Manual palpation along with intraoperative ultrasonography is considered as the most effective method for the localization of insulinomas during open surgery.

4.
Am J Med Sci ; 366(1): 49-56, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37088301

RESUMEN

BACKGROUND: Classically described as a disease of childhood and adolescence, diabetes mellitus type 1 (T1DM) can occur in adulthood. Adult-onset T1DM is poorly documented and is often misdiagnosed. This study aims to describe the epidemiological aspect of T1DM with adult-onset and detail its clinical, paraclinical, and therapeutic characteristics. MATERIALS AND METHODS: A 9-year retrospective longitudinal study (2011-2019) was conducted including adult patients (age >20 years) with confirmed diabetes and at least one of the auto-antibodies (auto-Abs) to glutamic-acid-decarboxylase (GAD), to islet-tyrosine-phosphatase 2 (IA2) or islet-cell-antibodies (ICA) positive. RESULTS: A total of 166 patients were included (sex-ratio M/F: 1.34; mean age: 28.6 years [20-56 years]). At the onset, 50.6% of patients presented with diabetic ketosis and 13.3% with diabetic ketoacidosis. Cardinal symptoms of diabetes were present in 30.7% of patients only at diagnosis, while the discovery was fortuitous in 5.4% of cases. 27.7% of patients developed an additional auto-immune disease mainly autoimmune thyroid disease. The risk of developing another AUTO-IMMUNE DISEASE was highest in females (p = 0.010) and increased with age (p = 0.011). GAD-Abs, IA2-Abs, and ICA were positive in 98.2%, 13.3%, and 17.4% of cases respectively. Only GAD-Abs were found positive in 73.1%. Upon diagnosis, 75.9% of patients were treated with insulin, while 24.1% of patients were initially put on oral anti-diabetic drugs before requiring insulin within an average of 7.42 months. CONCLUSIONS: Adult-onset T1DM has a different clinical course (slower onset, less abrupt symptoms, more insidious presentation, and more prolonged progression to insulin) that has to be known. Misdiagnosis of adult-onset T1DM can have serious consequences.


Asunto(s)
Enfermedades Autoinmunes , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Cetoacidosis Diabética , Femenino , Adolescente , Humanos , Adulto , Adulto Joven , Diabetes Mellitus Tipo 1/epidemiología , Estudios Retrospectivos , Estudios Longitudinales , Autoanticuerpos , Insulina/uso terapéutico
5.
Clin Case Rep ; 11(2): e6962, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36846181

RESUMEN

Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.

6.
J Clin Med ; 11(24)2022 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-36556141

RESUMEN

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We identified the common p.Arg73Cys mutation in seven patients from four unrelated pedigrees. We found a novel homozygous mutation (c.340C>T) in one sporadic case. This mutation generates a truncated ProP1 protein, predicted to be non-functional, lacking the last 112 codons (p.(Gln114Ter)). We confirmed by polymerase chain reaction (PCR) the absence of large exon deletions or insertions in the remaining sporadic patients (7/8). Conclusions: We report two mutations {one newly identified [p.(Gln114Ter)] and one previously reported (p.Arg73Cys)} in five unrelated Tunisian families with non-syndromic CPHD. This work is of clinical importance as it reports the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families. Our study also illuminated the involvement of novel gene(s) in the emergence of non-syndromic CPHD.

7.
Urol Case Rep ; 43: 102108, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35600809

RESUMEN

Ectopic pheochromocytomas, also called paragangliomas, are defined as catecholamine -secreting tumors, which develop outside the adrenal medulla. Pheochromocytomas of the urinary tract represent less than 1% of all paragangliomas and are most commonly located in the bladder. Nevertheless, prostatic pheochromocytoma is an extremely rare clinical entity and only a few cases have been reported in the medical literature. Herein, we report a case of ectopic pheochromocytoma arising from the prostate, revealing with hypertensive crisis occurring immediately after ejaculation.

8.
Case Rep Radiol ; 2021: 7306432, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34671496

RESUMEN

INTRODUCTION: Meningeal melanocytoma (MM) is a very rare neuroectodermal neoplasm arising from the leptomeninges. Primary suprasellar melanocytomas are exceedingly rare, with only a handful of cases reported. The systemic spread of a nontransformed meningeal melanocytoma is an unusual occurrence. Herein, we report the first case of a primary sellar melanocytoma with cerebral and spinal meningeal seeding. Case Report. A 30-year-old male with no previous medical history presented to the endocrinology department with a loss of body hair. The endocrine workup concluded with isolated hypogonadotropic hypogonadism. The Magnetic Resonance Imaging (MRI) of the brain and sella revealed a large suprasellar mass continuous with the infundibulum of the pituitary gland. It was heterogeneously hyperintense on T1-, T2-, and FLAIR-weighted images and was enhanced with contrast, along with cerebral and spinal leptomeningeal spread. The patient was referred to the neurosurgery department, and a lumbar spine biopsy was indicated. The histopathological examination was suggestive of a grade I meningeal pigmented melanocytoma. CONCLUSION: Thus, primary sellar melanocytomas with leptomeningeal spread are an extremely rare phenomenon. Metastatic malignant melanoma should be ruled out. Being aware of differential diagnosis and the unusual behavior of meningeal melanocytoma will be necessary to manage the patient appropriately. Complete tumor resection is the best treatment whenever possible, and radiotherapy should be considered in case of unresectability or partial resection.

9.
Iran J Public Health ; 49(2): 386-388, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32461947

RESUMEN

VIPoma is an unusual neuroendocrine neoplasm that autonomously secretes VIP. It is associated with secretory diarrhea and electrolyte disturbances. Herein we report a case of a male patient, who was hospitalized in the Department of Endocrinology in Hedi Chaker Hospital, Sfax, Tunisia. He presented VIPoma syndrome, with hepatic metastases at diagnosis. He had a history of chronic, watery diarrhea. He was dehydrated with many electrolytic disorders as hypokalemia, hyponatremia and metabolic acidosis. Abdominal CT scan showed a heterogeneous mass in the pancreatic head with multiple hepatic lesions. A high VIP hormone level was found. Histological study of a liver biopsy revealed hepatic metastases of neuroendocrine carcinoma. The patient received analogues of somatostatin and systemic chemotherapy, with a transient symptomatic relief. Sadly the patient was lost to follow-up.

10.
J Pediatr Hematol Oncol ; 42(6): e499-e502, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-30870388

RESUMEN

BACKGROUND: Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth. OBSERVATION: We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Molecular testing of SMPD1 gene revealed the presence of a homozygous p.Arg610del mutation. Lysosphingomyelin and its isoform-509 were both increased confirming ASMD for both cases. Growth hormone deficiency was highly suspected but growth hormone response after stimulating tests was acceptable for both patients. CONCLUSIONS: There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.


Asunto(s)
Discapacidades del Desarrollo/patología , Homocigoto , Mutación , Enfermedades de Niemann-Pick/complicaciones , Esfingomielina Fosfodiesterasa/deficiencia , Esfingomielina Fosfodiesterasa/genética , Adolescente , Adulto , Discapacidades del Desarrollo/etiología , Humanos , Masculino , Enfermedades de Niemann-Pick/genética , Enfermedades de Niemann-Pick/patología , Fenotipo , Pronóstico , Hermanos , Adulto Joven
11.
Pan Afr Med J ; 34: 32, 2019.
Artículo en Francés | MEDLINE | ID: mdl-31762900

RESUMEN

Pancreatic insulinoma is a rare, often benign, neuroendocrine tumor which may give rise to life-threatening consequences due to hypoglycemia-related accidents. Adrenal deficiency can also cause hypoglycemia. We report the case of a 68-year old patient hospitalized for recurrent hypoglycaemia. Tests were performed that showed endogenous hyperinsulinism, adrenocorticotropin deficiency and hypergonadotropic hypogonadism. The patient received hydrocortisone without improvement. Five years later topography showed insulinoma. This study highlights the clinical, biological, radiological and therapeutic features of insulinoma as well as laboratory test results and shows that insulinoma can cause adrenocorticotropic deficiency and peripheral hypogonadism.


Asunto(s)
Insuficiencia Suprarrenal/etiología , Hipogonadismo/etiología , Insulinoma/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Anciano , Humanos , Hidrocortisona/administración & dosificación , Hiperinsulinismo/etiología , Hipoglucemia/etiología , Insulinoma/complicaciones , Masculino , Neoplasias Pancreáticas/complicaciones
12.
Iran J Allergy Asthma Immunol ; 18(5): 572-583, 2019 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-32245301

RESUMEN

Insulin therapy is an essential treatment for type 1 and uncontrolled type 2 diabetes mellitus (DM). Hypersensitivity reactions have been described since the first administration of insulin, the same as any other therapy. Despite being a rare situation nowadays, it requires careful intra-hospital monitoring and multidisciplinary management. Here, we present a case of a 57-year-old patient with type 2 DM, an average glycemic control, and both penicillin and insulin allergy. Heunderwent a desensitization protocol which allowed successfully dismiss him with intermediate-acting insulin.


Asunto(s)
Hipersensibilidad a las Drogas/tratamiento farmacológico , Hipersensibilidad a las Drogas/etiología , Hipoglucemiantes/efectos adversos , Insulina/efectos adversos , Desensibilización Inmunológica/métodos , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Humanos , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Masculino , Persona de Mediana Edad
13.
Tunis Med ; 96(6): 353-359, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30430473

RESUMEN

AIM: To describe the prevalence of metabolic syndrome and to study the association of physical activity measured by pedometer with the metabolic syndrome components, in a sample of overweight and obese adolescents from Sfax City. METHODS: This study concerned 51 obese and overweight adolescents (28 girls and 23 boys), between the ages of 15 and 18 years, recruited by the unit of obesity and metabolic syndrome department of endocrinology, Hedi Chaker Hospital, University of Sfax, between december 2012 and october 2013. Metabolic syndrome was defined with the International Diabetes Federation (IDF) criteria. Physical activity was monitored with pedometer (Digi-Walker SW-200; Yamax Co, Tokyo, Japan). RESULTS: The frequency of metabolic syndrome was 21.6%. It was significantly higher in obese (25%) than in overweight (15,81%) adolescents (p=0.04). The most common component, associated with abdominal obesity, was hypoHDLemia observed in 58.8 % of the sample. The average steps / day measured by pedometer was significantly higher in subjects without metabolic syndrome than with (9648, 25±2297, 726 vs 7365, 91±1505, 65 steps/day; p=0, 03). Pedometer determined steps/day was inversely correlated with waist circumference (P<0.05), blood pressure (P<0.05) and triglycerides (P<0.05). CONCLUSION: Metabolic syndrome is prevalent in our young population. A more physically active lifestyle appears to be associated with lower probability of metabolic syndrome.


Asunto(s)
Ejercicio Físico/fisiología , Síndrome Metabólico/epidemiología , Obesidad Abdominal/epidemiología , Obesidad Infantil/epidemiología , Actigrafía , Adolescente , Presión Sanguínea/fisiología , Femenino , Humanos , Estilo de Vida , Masculino , Prevalencia , Triglicéridos/sangre , Túnez/epidemiología , Circunferencia de la Cintura/fisiología
14.
Tunis Med ; 96(8-9): 490-494, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30430526

RESUMEN

AIM: We describe the clinical and etiological profile of patients with Fahr's syndrome (FS). METHODS: Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed. RESULTS:   The mean age at diagnosis was 44.68 years (11-67 years). The most main presenting neurological features were seizures in 6 cases, headaches in 5 cases and parkinson's syndrome in 3 cases. Psychiatric disorders were observed in 2 patients including memory loss and iritability. Hypocalcemia clinical features were observed in 7 cases. The mean value of hypocalcemia was 1.69 mmol/l. Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients.  Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. CONCLUSION: In this report, we propose to discuss the clinical manifestations of FS, its etiologies especially parathyroid disturbances and its therapeutic modalities.


Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Enfermedades de los Ganglios Basales/epidemiología , Enfermedades de los Ganglios Basales/etiología , Calcinosis/diagnóstico , Calcinosis/epidemiología , Calcinosis/etiología , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/epidemiología , Enfermedades Neurodegenerativas/etiología , Adolescente , Adulto , Edad de Inicio , Anciano , Trastornos Cerebrovasculares/complicaciones , Trastornos Cerebrovasculares/diagnóstico , Trastornos Cerebrovasculares/epidemiología , Niño , Comorbilidad , Femenino , Humanos , Hipoparatiroidismo/complicaciones , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Sexuales , Túnez/epidemiología , Adulto Joven
15.
Tunis Med ; 96(8-9): 501-504, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30430528

RESUMEN

OBJECTIVES: To investigate the link between pain sensitivity in autism spectrum disorders (ASD) and self-aggressive behavior. METHODS: we performed a cross-sectional study which involved 50 children fulfilling DSM-V criteria for ASD; confirmed by the Autism Diagnostic Interview Revised. The severity of autism was determined using the Childhood Autism Rating Scale (CARS).The psycho-educational profile (PEP-R) was used to assess the age of development and perception.  Sensitivity to pain was assessed with item IX of the CARS. Self-aggressive behavior was assessed by the Behavior Problems Inventory. RESULTS: Pain sensitivity was lowered in 40% and elevated in 4% of children. In the univariate analysis, no statistically significant association was found between normal sensitivity or hyper sensitivity to pain and the presence of auto-aggressiveness. A significant association was found between the presence of hypo-sensitivity to pain and the following variables: auto-aggression (p = 0.007, OR = 5.8, 95% CI = 1.5-21) , frequency of self-aggression (p = 0.001), intensity of self-aggression (p = 0.05), location of auto-aggressiveness at head and (P = 0.007, OR = 7.6, 95% CI = 1.8-14), higher score at CARS, and lower perception score at PEP-R (p = 0.012). Multiple-varied analysis identified risk factors for hypo-sensitivity to pain: lower perceptual score (p = 0.003, adjusted OR = 4.3, 95% CI = 1.9-54) and location of self-aggression at head and hands (p = 0.001, adjusted OR = 1.09, 95% CI = 1.02-1.09). CONCLUSION: It would be interesting to develop tools allowing a fine and precise evaluation of the painful sensation.


Asunto(s)
Agresión , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Umbral del Dolor/fisiología , Conducta Autodestructiva/epidemiología , Conducta Autodestructiva/etiología , Agresión/fisiología , Agresión/psicología , Trastorno del Espectro Autista/fisiopatología , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Dolor/diagnóstico , Dolor/epidemiología , Insensibilidad Congénita al Dolor/complicaciones , Insensibilidad Congénita al Dolor/epidemiología , Dimensión del Dolor , Percepción del Dolor/fisiología , Factores de Riesgo , Conducta Autodestructiva/fisiopatología
16.
Can J Physiol Pharmacol ; 96(11): 1171-1180, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29527933

RESUMEN

The relationship between liver enzymes and T2D risk is inconclusive. We aimed to evaluate the association between liver markers and risk of carbohydrate metabolism disorders, as well as their discriminatory power, for T2D prediction. This cross-sectional study enrolled 216 participants classified as normoglycemic, prediabetic, newly diagnosed diabetics, and diagnosed diabetics. All participants underwent anthropometric and biochemical measurements. The relationship between hepatic enzymes and glucose metabolism markers was evaluated by analyses of covariance. The associations between liver enzymes and incident carbohydrate metabolism disorders were analyzed through logistic regression and their discriminatory capacity to predict T2D by ROC analysis. High AP, ALT, γGT, and AST levels were independently related to decreased insulin sensitivity. Interestingly, a higher AP level was significantly associated with an increased risk of prediabetes (p = 0.017), newly diagnosed diabetes (p = 0.004), and T2D (p = 0.007). An elevated γGT level was an independent risk factor for T2D (p = 0.032) and undiagnosed T2D (p = 0.010) in prediabetic and normoglycemic subjects, respectively. In ROC analysis, AP was a powerful predictor of incident diabetes and significantly improved T2D prediction. Liver enzymes within the normal range, specifically AP levels, are associated with increased risk of carbohydrate metabolism disorders and significantly improved T2D prediction.


Asunto(s)
Diabetes Mellitus Tipo 2/sangre , Hígado/metabolismo , Estado Prediabético/sangre , Adulto , Anciano , Biomarcadores/sangre , Estudios Transversales , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Humanos , Pruebas de Función Hepática , Masculino , Persona de Mediana Edad , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Valor Predictivo de las Pruebas , Factores de Riesgo , Túnez/epidemiología
17.
Pan Afr Med J ; 30: 251, 2018.
Artículo en Francés | MEDLINE | ID: mdl-30627312

RESUMEN

Recent studies conducted in patients with Addison's disease (AD) highlighted that this disease, even after treatment, is a significant cause of morbi-mortality. This study aims to determine the cardiovascular and metabolic deleterious impact of long-course glucocorticoid substitution therapy. We conducted a retrospective study of 28 patients with treated Addison's disease evolving for more than 15 years. The average age of patients was 58, 53 years, with a female predominance (65%). The average follow-up period was 17, 87 years. Initial dose of hydrocortisone was 32, 5 mg/day (20.52 mg/m2) and 27, 9 mg/day (16,41mg/m2) at the time of the study. The prevalence of the metabolic syndrome (MS) in patients with AM was 35.71% after a period of treatment longer than 15 years. At the end of the follow-up period, 28.57% of patients were obese; 25% of patients had developed AH (arterial hypertension) and type 2 diabetes. The prevalence of dyslipidemia went from 3.57% to 42.85%. Only one patient had myocardial infarction at 25-year follow-up. Factors favoring the onset of MS in our study were history of disease and weight loss at the moment of diagnosis. Adjustment of substitution therapy is a challenge in patients with Addison's disease due to morbi-mortality associated with overdose. A regular follow-up and a personalized therapeutic approach are necessary to improve patients' prognosis.


Asunto(s)
Enfermedad de Addison/tratamiento farmacológico , Glucocorticoides/administración & dosificación , Hidrocortisona/administración & dosificación , Enfermedad de Addison/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Diabetes Mellitus Tipo 2/epidemiología , Relación Dosis-Respuesta a Droga , Dislipidemias/epidemiología , Femenino , Estudios de Seguimiento , Glucocorticoides/efectos adversos , Terapia de Reemplazo de Hormonas/métodos , Humanos , Hidrocortisona/efectos adversos , Hipertensión/epidemiología , Masculino , Síndrome Metabólico/epidemiología , Persona de Mediana Edad , Prevalencia , Pronóstico , Estudios Retrospectivos , Factores de Tiempo
18.
Pan Afr Med J ; 26: 86, 2017.
Artículo en Francés | MEDLINE | ID: mdl-28491217

RESUMEN

A 27-year-old pregnant woman was admitted to the resuscitation department with severe spontaneous acute ketoacidosis as early symptom of type 1 diabetes. The patient underwent resuscitation and insulin treatment with good clinical and biological evolution. On day 4, the patient had polyradiculoneuritis characterised by acute onset. Additional emergency examinations were negative. Lumbar cytopunction showed albuminocytologic dissociation. Electromyogram confirmed the diagnosis of Guillain Barré syndrome (GBS). The patient was treated with veinoglobulin and underwent physical rehabilitation. A dramatic improvement in neurological signs was noted. With regard to pregnancy, the patient aborted a week after being diagnosed with GBS. The association of GBS with ketotic decompensation is rare. Indeed, a few cases have been reported in the literature. This association during pregnancy was never described, hence the originality of this case study.


Asunto(s)
Diabetes Mellitus Tipo 1/diagnóstico , Cetoacidosis Diabética/diagnóstico , Síndrome de Guillain-Barré/diagnóstico , Complicaciones del Embarazo/diagnóstico , Adulto , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Cetoacidosis Diabética/complicaciones , Cetoacidosis Diabética/tratamiento farmacológico , Electromiografía , Femenino , Síndrome de Guillain-Barré/complicaciones , Humanos , Insulina/administración & dosificación , Embarazo , Complicaciones del Embarazo/fisiopatología , Resultado del Embarazo
19.
J Diabetes Complications ; 31(1): 253-259, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27422531

RESUMEN

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Our study reported a Tunisian family with clinical features of maternally inherited diabetes and deafness (MIDD). Accordingly, we performed a whole mitochondrial genome mutational analysis, results revealed a haplotype composed by "A750G, A1438G, G8860A, T12705, T14766C and T16519C", in homoplasmic state, in the mother and transmitted to her daughter and her son. The patient with MIDD2 and retinopathy presented, in addition to this haplotype associated to the MIDD, two de novo variations including a novel one m.8241T>G (p. F219C) in MT-CO2 gene and a known one m.13276G>A (p. M314V) in MT-ND5 gene. The coexistence of these two mutations could explain the retinopathy observed in this patient.


Asunto(s)
ADN Mitocondrial , Sordera/genética , Diabetes Mellitus Tipo 2/genética , Retinopatía Diabética/genética , Complejo IV de Transporte de Electrones/genética , Complejo I de Transporte de Electrón/genética , Enfermedades Mitocondriales/genética , Proteínas Mitocondriales/genética , Modelos Moleculares , Mutación Puntual , Adulto , Sustitución de Aminoácidos , Análisis Mutacional de ADN , Bases de Datos de Proteínas , Sordera/sangre , Sordera/complicaciones , Sordera/metabolismo , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/metabolismo , Retinopatía Diabética/sangre , Retinopatía Diabética/complicaciones , Retinopatía Diabética/metabolismo , Complejo I de Transporte de Electrón/química , Complejo I de Transporte de Electrón/metabolismo , Complejo IV de Transporte de Electrones/química , Complejo IV de Transporte de Electrones/metabolismo , Salud de la Familia , Femenino , Humanos , Masculino , Enfermedades Mitocondriales/sangre , Enfermedades Mitocondriales/complicaciones , Enfermedades Mitocondriales/metabolismo , Proteínas Mitocondriales/química , Proteínas Mitocondriales/metabolismo , Obesidad/sangre , Obesidad/complicaciones , Obesidad/genética , Obesidad/metabolismo , Linaje , Conformación Proteica , Homología Estructural de Proteína , Túnez
20.
Med Princ Pract ; 25(3): 227-32, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26613579

RESUMEN

OBJECTIVE: The aim of the present study was to assess the reliability and validity of an Arabic version of the International Physical Activity Questionnaire for Adolescents (IPAQ-A) modified for use in Tunisia among overweight and obese adolescents. SUBJECTS AND METHODS: Fifty-one voluntary healthy, overweight or obese adolescents (15-18 years old) participated in the study. Physical activity (PA) indicators derived from the modified self-administered IPAQ-A were compared with pedometer-recorded data of step counts. The test-retest reliability of the IPAQ-A was evaluated using intraclass correlation coefficients (ICC) and Kappa tests between the response of participants in the two interviews. Validity was assessed using Spearman's rank correlation coefficient between the scores of the IPAQ-A and the step count pedometer. RESULTS: ICC revealed that the reliability of IPAQ-A values was high and ranged from 0.73 to 0.95. IPAQ-A scores were also significantly related to pedometer step counts (r = 0.66, p < 0.001). Strong relationships were observed between pedometer step count data and the IPAQ-A data for vigorous PA (r = 0.57, p < 0.001) and walking (r = 0.61, p < 0.001). However, a weaker relationship for moderate PA was observed (r = 0.24, p < 0.05). CONCLUSIONS: The modified version of the IPAQ-A questionnaire demonstrated an acceptable reliability and validity when used to assess the levels and patterns of PA in overweight or obese Tunisian adolescents.


Asunto(s)
Ejercicio Físico , Sobrepeso/fisiopatología , Obesidad Infantil/fisiopatología , Encuestas y Cuestionarios/normas , Actigrafía , Adolescente , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Túnez
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