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During Ramadan fast, Muslims must refrain from smoking, eating, drinking, having sexual activity, and consuming oral medications from sunrise to sunset. It has been previously shown that Ramadan fasting induces favourable changes on metabolic parameters, reduces oxidative stress and inflammation and promotes cardiovascular benefits. Although ill people are exempted from fasting, most patients with chronic diseases are keen on performing this Islamic-ritual. During recent years, Risk stratification and treatment adjustment during Ramadan are well known and structured in several guidelines for patients with diabetes mellitus. Data related to the effect of Ramadan fast on lipid profiles are less known and several controversies have been reported. Here, we focus on lipid profile and lipid management during Ramadan taking into account comorbidities and cardiovascular risk.
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BACKGROUND: HNF4A-p.I463Vvariant, reported previously in two distinct families suspected of MODY-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%). METHODS: 200 Tunisian healthy people were screened for the presence of HNF4A-p.I463V variant, using RFLP-PCR technique and sequencing. Then, the frequency of this variant was estimated in the Tunisian population and compared to other populations registered in genetic databases. We also performed in-silico analysis using PolyPhen2 and Mutation T@sting softwares to assess the probable effect of HNF4A-p.I463V variant. RESULTS: HNF4A-p.I463V had a rare frequency in different populations and was found in 3 control subjects (1.5%) of the studied population. PolyPhen2 predicted that it is a polymorphism, whereas mutation T@sting suggested a probably affected mutant protein. CONCLUSION: HNF4A-p.I463V has a relatively high frequency (>1%) in our control cohort. It is also present in different ethnicities and in- silico analysis showed conflicting results. For these reasons, HNF4A-p.I463V should not be considered as a mutation responsible for MODY-1.
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BACKGROUND: Xanthogranuloma, also known as cholesterol granuloma, is an extremely rare intracranial neoplasm most commonly located in the middle ear, petrous apex, or choroid plexus. Exclusively suprasellar xanthogranulomas are exceptional and this report presents a very rare case in the pediatric population, particularly unique due to the presence of calcification. CASE DESCRIPTION: A 17-year-old girl presented with primary amenorrhea with computed tomography and magnetic resonance imaging showing a large calcified enhancing suprasellar mass, which was presumptively diagnosed as a craniopharyngioma on the basis of its clinical and radiologic appearance. Gross total resection of a well-encapsulated, exclusively suprasellar tumor was achieved, without postoperative neurologic deficits. Histologic examination found fibrous tissue with abundant cholesterol clefts, multinucleated giant cells, and hemosiderin deposits but no epithelial cells. The final histologic diagnosis was a xanthogranuloma. CONCLUSIONS: Xanthogranuloma, although extremely rare in the pediatric population, may present as a calcified suprasellar mass and manifest with primary amenorrhea. The prognosis after gross total resection is likely favorable; however, long-term follow-up is indicated for these rare neoplasms.
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Amenorreia/etiologia , Calcinose/cirurgia , Craniofaringioma/cirurgia , Granuloma/complicações , Granuloma/cirurgia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/cirurgia , Adolescente , Calcinose/patologia , Craniofaringioma/patologia , Diagnóstico Diferencial , Feminino , Hormônios Esteroides Gonadais/sangue , Granuloma/patologia , Hormônios/sangue , Humanos , Neoplasias Hipofisárias/patologia , Sela Túrcica/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: MODY (Maturity-onset diabetes of the young), a dominantly inherited form of early-onset diabetes, is clinically and genetically heterogeneous with more than ten genetic subtypes described worldwide. AIM: To evaluate the possible existence of MODY in 12 young diabetic Tunisian patients by searching for mutations in the most prevalent MODY genes. METHODS: Twelve patients with diabetes in 2-to-3 generations, all diagnosed before age 31, were screened for mutations and deletions in HNF1A, HNF4A, INS, IPF1, NEUROD1 and GCK genes by Sanger sequencing and by Multiplex ligation-dependent probe amplification assay. RESULTS: The patients had no evidence of autoimmunity and a mean age at diabetes diagnosis of 25.66 ± 3.96 years with severe overt diabetes (fasting glycaemia: 10.91 ± 3.55 mmol/ l; HbA1c: 10.46 ± 3.31 %). Two subjects were initially treated with insulin. On the ten initially treated with OHA or on diet, eight converted to insulin therapy (within 3 months to 20 years). Molecular analysis showed only one missense HNF4A mutation (I453V) in one family. No mutations in the studied genes were detected in the other patients. CONCLUSION: A molecular defect in known MODY genes has been excluded in 11 patients with early-onset diabetes suggesting that other genetic causes may explain diabetes in these families. In such cases, new generation sequencing approaches may be well appropriate to identify specific molecular etiologies from extended families and to establish a strategy of molecular diagnostic of MODY in Tunisia.
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Diabetes Mellitus Tipo 2/genética , Adolescente , Adulto , Fator 4 Nuclear de Hepatócito/genética , Humanos , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Adulto JovemAssuntos
Insulinoma/diagnóstico , Insulinoma/cirurgia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Incidência , Insulinoma/epidemiologia , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento , Tunísia/epidemiologia , Adulto JovemAssuntos
Insulinoma/epidemiologia , Neoplasias Pancreáticas/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos Transversais , Feminino , Humanos , Incidência , Insulinoma/diagnóstico , Insulinoma/etnologia , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/etnologia , Prognóstico , Estudos Retrospectivos , Tunísia/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: Seizures with or without trauma may cause fractures that occur commonly in epileptic seizures. Fracture risk is less reported in non-epileptic seizures. Some metabolic conditions leading to a decrease in bone mineral density may cause fractures secondary to non-epileptic seizure. CASE PRESENTATION: We describe two cases of non-traumatic acetabular and vertebrae fractures following seizures without history of epilepsy. They occurred in two male patients, 18 and 48 years old suffering respectively from hypercorticism and poorly controlled diabetes mellitus. Seizures, occurring inside hospital, were secondary to hypertensive encephalopathy crisis with hypokaliemia in the first case and severe hypoglycaemia in the second one. Fracture was promoted by a decrease in mineral bone density caused respectively by hypercorticism and diabetic chronic renal failure. CONCLUSION: These observations emphasize that fracture prevention among patients with decreased mineral bone density should include the avoidance of metabolic causes of seizure.
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Vasculitis is a rare complication of antithyroid drugs (ATDs). It was first described with Propylthiouracil (PTU). We report a new case of antineutrophil cytoplasmic antibody (ANCA) vasculitis with glomerulonephritis induced by Benzylthiouracile (BTU). A 50-year-old man with Graves disease treated with BTU developed general malaise and haematuria without skin rash or respiratory involvement. Laboratory data revealed acute renal failure with proteinuria and haematuria. An indirect immunofluorescence test for ANCA was positive, showing a perinuclear pattern with specificity antimyeloperoxidase (MPO). A renal biopsy was performed and revealed pauci-immune extracapillary glomerular nephropathy and necrotic vasculitis lesions. Based on these findings we concluded to the diagnosis of rapidly progressive glomerulonephritis associated with ANCA induced by BTU therapy. The drug was therefore discontinued and the patient was treated with steroids and immunosuppressive treatment during 3 months. Renal failure, proteinuria and haematuria significantly improved within 2 months. However, P-ANCA remained positive until 10 months after drug withdrawal. Thyroid function was kept within normal range using iodine solution. We demonstrated clearly that BTU may induce severe forms of vasculitis with glomerulonephritis. Thus, the ANCA must be measured when confronted to systemic manifestation during treatment.
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Klinefelter syndrome (KS) can involve various psychiatric symptoms that are often heterogeneous and atypical. To illustrate the diagnosis and treatment difficulties of psychiatric non-specific symptoms occurring in KS, we report a 17-year-old man presenting with gynaecomastia and marfanoid features. Investigations showed high concentrations of gonadotrophins and a 47,XXY karyotype. Although his serum testosterone was normal, the patient had clinical hypogonadism and suffered from recent headache. Magnetic resonance imaging revealed pituitary non-invasive macroadenoma. Treatment with Cabergolin resulted in a normalisation of prolactin levels and a decrease in tumour size. During follow-up, the patient presented a permanent state of passivity and disinterest in imaginative experiences, without any obvious specific diagnoses, according to psychiatric examination. Further investigations showed major depression, schizotypical personality and patterns of psychotic functioning. Initial treatment with selective serotonin re-uptake inhibitors was not effective and he was switched to an atypical antipsychotic drug that was not tolerated and rapidly stopped by the patient.
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BACKGROUND: The aim of our study was to determine the frequency of anti-thyroid-stimulating hormone (TSH) receptor antibodies (TRAb) in Tunisian patients with Graves' disease (GD) and to compare the validity of TRAb to that of thyroperoxidase (TPO-Ab) and thyroglobulin antibodies (TG-Ab). METHODS: ELISA was used to determine the frequency of TRAb, TPO-Ab and TG-Ab in sera of 190 patients with GD. Patients were divided into four groups: those with untreated active GD (group A, n=71), those receiving treatment with anti-thyroid drugs (group B, n=85), those in relapse (group C, n=15) and those in remission (group D, n=19). Sera of 100 healthy blood donors served as controls. RESULTS: The sensitivity of TRAb for the diagnosis of GD (95.8%) was significantly higher than that of TPO-Ab (73.2%) and TG-Ab (42.2%) (p=0.0005 and p<10(-7), respectively). The positive rate for TRAb was lower in group B than in group A (70.6% and 95.8%, respectively; p=0.0001). The levels of TRAb were significantly higher in group A than in group B (mean 30.1 and 14.2 IU/L, respectively; p=0.006). CONCLUSIONS: TRAb, but neither TPO-Ab nor TG-Ab, is valuable in the diagnosis and management of patients with GD.
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Autoanticorpos/sangue , Ensaio de Imunoadsorção Enzimática/métodos , Doença de Graves/imunologia , Receptores da Tireotropina/imunologia , Adolescente , Adulto , Idoso , Feminino , Bócio/imunologia , Bócio/patologia , Humanos , Hipertireoidismo/sangue , Iodeto Peroxidase/sangue , Masculino , Pessoa de Meia-Idade , Curva ROC , Sensibilidade e Especificidade , Tireoglobulina/sangue , TunísiaRESUMO
OBJECTIVE: Celiac disease (CD) can be associated with autoimmune thyroid diseases. The aim of this study was to screen for CD in patients with Graves' disease in Tunisia. PATIENTS AND METHODS: Sera from 161 patients with Graves' disease were tested for IgA class anti-endomysium antibodies (AEA) using indirect immunofluorescence on cryostat sections of human umbilical cord and for IgA class anti-human tissue transglutaminase antibodies (AtTG) by ELISA. RESULTS: AEA were positive in 6 out of 161 (3.7%) patients with Graves' disease and all 6 patients were also positive for AtTG. Four of these 6 patients with positive serological markers of CD underwent duodenal biopsy; three had marked villous atrophy, one has normal histological picture and two did not agree to undergo biopsy. The prevalence of biopsy confirmed CD in patients with Graves' disease was 1.86% (3/161). CONCLUSION: Patients with Graves' disease are at substantial risk of CD and therefore antibody screening for CD may be included in the work-up of these patients. Either AEA or AtTG may be used.
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Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Doença de Graves/complicações , Transglutaminases/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença Celíaca/complicações , Doença Celíaca/imunologia , Criança , Feminino , Humanos , Imunoglobulina A/sangue , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , TunísiaRESUMO
We report the natural history of a hypopituitarism in a large Tunisian kindred including 29 subjects from the same consanguineous family. The index case was a 9-yr-old girl with severe growth retardation due to complete GH deficiency and partial corticotroph, lactotroph, and thyrotroph deficiencies. Magnetic resonance imaging showed a hyperplastic anterior pituitary. Thirteen of the 28 relatives examined (10 female subjects) had hypopituitarism. In the 14 patients, previously untreated (aged 6-53 yr), height was -5.7 +/- 1.7 sd score, and puberty was spontaneously initiated in only two females. Complete GH deficiency was found in all 12 patients investigated, of whom 11 had thyrotroph and eight of 10 had corticotroph deficiency. A homozygous R73C mutation of PROP1 was present in all 10 patients studied, and a heterozygous mutation was found in six unaffected parents or siblings. In vitro the mutant had 11.5% of the transactivation capacity of the wild type and was unable to bind to a high-affinity DNA sequence. This report showed the deleterious effect of the recessive R73C mutation that affects a hot spot of the PROP1 gene and was associated with severe dwarfism, a lack of spontaneous puberty, and a high incidence of early onset of corticotroph deficiency.