Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report.

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.

Unmasking the escalation: a comparative analysis of diabetic ketoacidosis severity before and during the COVID-19 pandemic in a Tunisian pioneer study.

Background: The severity of diabetic ketoacidosis (DKA) at diagnosis increased during the global COVID-19 pandemic. This study aimed to analyze the impact of the pandemic on the clinical and biological severity of DKA in patients with new-onset diabetes mellitus (DM) in Tunisia.

Research Design And Methods: The study included patients hospitalized for new-onset DKA 2 years prior and 2 years during the COVID-19 pandemic.

Esthesioneuroblastoma presenting as syndrome of inappropriate antidiuretic hormone secretion.

Hyponatremia is the most common fluid electrolyte disorder in hospitalized patients. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is the main cause of normovolemic hyponatremia, it can be caused by diverse etiologies: malignant tumors are the most feared cause that clinician persists in finding. Exceptionally, SIADH can complicate Esthesioneuroblastoma (ENB) or olfactory neuroblastoma, a rare tumor of the nasal sinus cavities.

Risk factors for impaired quality of life in diabetic patients in Tunisia.

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.

Explaining Long COVID: A Pioneer Cross-Sectional Study Supporting the Endocrine Hypothesis.

Context: In some patients, symptoms may persist after COVID-19, defined as long COVID. Its pathogenesis is still debated and many hypotheses have been raised.

Objective: Our primary objective was to evaluate the corticotroph and somatotroph functions of patients previously infected with SARS-CoV-2 and experiencing post-COVID-19 syndrome to detect any deficiencies that may explain long COVID.

Arabic version of the simplified diabetes knowledge scale: psychometric and linguistic validation.

Introduction: the simplified diabetes knowledge scale is used to obtain a general assessment of diabetic´s knowledge about diabetes and its care. For clinical and methodological purposes, it was relevant and necessary to develop an Arabic version of this instrument. Thus, the aim of this study was to translate and validate the simplified diabetes knowledge scale (SDKS) into Arabic to measure the knowledge of Arabic-speaking diabetics.

[The third version of diabetes attitude scale in arabic language: Reliability, validity and normative data].

Objective: The aim of this study was to translate and analyze the psychometric properties of the third version of the Arabic Diabetes Attitude Scale.

Methods: A methodological study of psychometric validation of the scale according to the guidelines of Vallerand cross-cultural validation was conducted. Type 1 and type 2 diabetics, aged 18 and over, without cognitive impairment or altered mental status were recruited on a convenience-sampling basis.

Translation, psychometric evaluation and validation of the "diabetes health profile-18" questionnaire in Arabic.

Introduction: measuring quality of life requires an instrument validated in the population language. The purpose of our study was to translate and analyze the psychometric properties of the literary Arabic version of the "diabetes health profile (DHP)-18".

Methods: we conducted a methodological study for psychometric evaluation and validation of the DHP-18, following the steps of the cross-cultural validation described by Vallerand.

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.

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.

Familial early-onset diabetes is not a typical MODY in several Tunisian patients.

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.

Benzylthiouracil-induced glomerulonephritis.

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).

Anti-thyroid-stimulating hormone receptor antibodies determined by second-generation assay.

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).

Screening for celiac disease in Tunisian patients with Graves' disease using anti-endomysium and anti-tissue transglutaminase antibodies.

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.

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

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.

[Congenital hypopituitarism: when should transcription factor gene screenings be performed?].

THE GENETIC ORIGIN INCREASINGLY INCRIMINATED: Congenital pituitary hormone deficiencies represent conditions of hypopituitarism resulting from abnormal pituitary ontogenesis. This group of genetically determined diseases has considerably widened with the development of molecular biology. Many transcription factors playing a role in pituitary development have been identified, and their mutations reported as causes of isolated or multiple pituitary hormone deficiencies.