Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.

Background And Aims: Neurofibromatosis-Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan syndrome (NS). Nevertheless, many inconsistencies reside in our understanding of this condition, mainly its clinical features and genetic background. Through this systematic review, we aim to shed light on the epidemiological features, the broad clinical spectrum, the underlying genetic defects and the associated comorbidities of NFNS.

Recommendations for management of diabetes and its complications during Hajj (Muslim Pilgrimage) - 2024 update.

Hajj is an obligatory duty for all healthy adult Muslims once in the lifetime subjected to the ability. Considering the 10.5 % global prevalence of diabetes coupled with the numbers of Muslims performing the Hajj, ∼ 1.

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.

Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity.

Radiological predictive remission factors of pulmonary involvement in systemic sarcoidosis: a computed tomography scan study.

Introduction: As little is known about the prognostic value of CT scan findings at onset in patients presenting with sarcoidosis, we aimed to identify factors independently associated with radiological remission of pulmonary involvement in systemic sarcoidosis on CT scan findings.

Methods: We conducted a retrospective descriptive and analytic study of patients with a biopsy proven systemic sarcoidosis. We compared patients on radiological remission (group 1) to those on stabilization or progression (group 2).

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Objectives: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls.

Methods: Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments.

Simultaneous testicle and epididymis vasculitis revealing granulomatosis with polyangiitis.

Granulomatosis with polyangiitis (GPA) is a systemic necrotizing granulomatous vasculitis, which predominantly affects small-sized blood vessels. We aimed to report a case of GPA involving testicles and epididymis taken for malignancy. A 75-year-old patient was admitted for a painful left testicular mass.

[Acromegaly: an endocrine pathology with serious consequences].

Acromegaly is a rare endocrine disorder leading to an acquired physical disfigurement and multisystem damage. It is caused in over 95% of cases by a secreting pituitary adenoma. Latency period between disease onset and diagnosis is mainly 10 years due to progressive chronic evolution and exposure to high levels of GH and IGF-1.

Knowledge gaps and perceptions of future research directions on management of diabetes during Ramadan fasting: An online survey of physicians.

Objectives: Current knowledge and research on diabetes and Ramadan form the basis for evidence-based clinical practice. In this context, we aimed to explore physicians' perceptions of current knowledge gaps about research fasting (RF), barriers to, and foreseeable directions for advancement of the field.

Methods: We conducted an online survey of a convenience sample of 260 physicians from 27 countries.

Simulation Based Learning in internal medicine students.

Introduction: Few experiences have been reported in simulation-based learning (SBL) in internal medicine.

Aim: To assess the SBL impact in internal medicine learning on learners' perception, knowledge acquisition, and cognitive and communication skills evaluation.

Methods: A prospective observational study conducted in the Simulation Center at the Faculty of Medicine of Monastir between November 2018 and March 2019.

Recommendations for management of diabetes during Ramadan: update 2020, applying the principles of the ADA/EASD consensus.

Fasting the Holy month of Ramadan constitutes one of the five pillars of the Muslim faith. Although there is some evidence that intermittent fasting during Ramadan may be of benefit in losing weight and cardiometabolic risk factors, there is no strong evidence these benefits apply to people with diabetes. The American Diabetes Association/European Association for the Study of Diabetes consensus recommendations emphasize the importance of patient factors and comorbidities when choosing diabetes medications including the presence of comorbidities, atherosclerotic cardiovascular disease, heart failure, chronic kidney disease, hypoglycemia risk, weight issues and costs.

Erdheim-chester disease revealed by diabetes insipidus.

Erdheim-Chester disease (ECD) is a very rare and aggressive form of non-Langerhans histiocytosis with unclear pathogenesis. Because of the heterogeneity of clinical presentation, diagnosis is often challenging and delayed. Currently, Interferon alpha is the first line treatment that is associated with a better survival.

Cardiac and vascular complications of Behçet disease in the Tunisian context: clinical characteristics and predictive factors.

Background: Cardiac and vascular involvement in Behçet disease (BD), also referred as vasculo BD, is frequent. We aimed to describe clinical characteristics, predictive factors and management of vasculo BD in the Tunisian context.

Methods: We retrospectively studied 213 records of all BD patients followed between January 2004 and May 2016 in the Internal Medicine Department and who fulfilled the ISGBD criteria.

A case of Kallmann syndrome associated with a non-functional pituitary microadenoma.

Unlabelled: Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia.

Hughes-Stovin syndrome revealing the presence of Behçet's Disease.

Background: Hughes-Stovin Syndrome (HSS) is a rare clinical disorder characterized by deep venous thrombosis and multiple pulmonary and/or bronchial aneurysms. Aneurysms in systemic circulation can also be seen.

Case Presentation: We report the first case of HSS with aortic aneurysm in a 55-year-old man who initially presented with deep venous thrombosis.

One-Year Outcome of Intensive Insulin Therapy Combined to Glucose-Insulin-Potassium in Acute Coronary Syndrome: A Randomized Controlled Study.

Background: A number of factors may offset the cardioprotective effects of glucose-insulin-potassium (GIK) on outcome of patients with acute coronary syndrome, such as hyperglycemia induced by this cocktail infusion. We performed a study to evaluate the effect of intensive insulin therapy in association with GIK on 1-year outcome in patients hospitalized for acute coronary syndrome.

Methods And Results: In a randomized prospective controlled trial we included 772 patients with non-ST-segment elevation acute coronary syndrome.

Does Lipid Profile Affect Thrombin Generation During Ramadan Fasting in Patients With Cardiovascular Risks?

There is evidence that diet and variation in lipid metabolism can influence blood coagulation, but little is known about the effect of Ramadan fasting on plasmatic coagulation pattern. We investigated the effect of Ramadan fasting on thrombin generation (TG) in patients with cardiovascular disease (CVD) risks, and we aimed to assess the effect of lipid profile on TG parameters. The study was conducted in 36 adults having at least 2 CVD risks and in 30 healthy controls.

[Late-onset pituitary stalk interruption syndrome (PSIS)].

Pituitary stalk interruption syndrome is a fairly common cause of the deficiency of Growth Hormone and hypopituitarism often revealed in the neonatal period and childhood. This observation illustrates the peculiarities of a late clinical onset of this syndrome. We report a case of a 17-year-old patient hospitalized for primary amenorrhoea and impuberism.

Obstructive sleep apnea presenting as pseudopheochromocytoma.

A 52-year-old female with a history of poorly controlled resistant hypertension was admitted to our hospital with severe hypertension. She had a history of fatigue and intermittent episodes of palpitations. Laboratory evaluation was significant for elevated 24-h urinary catecholamine levels (3,5 times the upper normal levels).

An acute adrenal insufficiency revealing pituitary metastases of lung cancer in an elderly patient.

Metastases of solid tumors to the pituitary gland are often asymptomatic or appereas as with diabetes insipid us. Pituitary metastases more commonly affect the posterior lobe and the infundibulum than the anterior lobe. The presentation with an acute adrenal insufficiency is a rare event.

Successful switch from insulin to oral sulfonylurea therapy in HNF1A-MODY Tunisian patient with the P291fsinsC mutation.

The hot spot mutation P291fsinsC was identified for the first time in a 26 years old Tunisian woman. The low serum level of high C-reactive protein was helpful to target the HNF1A gene. Due to the molecular diagnosis, the change from insulin to sulfonylurea therapy was performed successfully.

Clinical experience with insulin detemir, biphasic insulin aspart and insulin aspart in people with type 2 diabetes: Results from the Central and Southern Tunisia cohort of the A1chieve study.

Background: The A1chieve, a multicentric (28 countries), 24-week, non-interventional study evaluated the safety and effectiveness of insulin detemir, biphasic insulin aspart and insulin aspart in people with T2DM (n = 66,726) in routine clinical care across four continents.

Materials And Methods: Data was collected at baseline, at 12 weeks and at 24 weeks. This short communication presents the results for patients enrolled from Central and Southern Tunisia.

[Evaluation of the renal function in type 2 diabetes: clearance calculation or cystatin C?].

Screening for diabetic nephropathy is usually done by albuminuria/24h and the use of creatinine clearance. The objective of this study was to evaluate the renal function in Type 2 diabetes by using different formulas of creatinine clearance and to assess the contribution of cystatin C; 83 adults with type 2 diabetes (23 men and 60 women) and 83 adult controls (40 men and 43 women) were studied. Biochemical parameters were determinated on Coba 6000™ (Roche diagnostics).

Graves' disease associated with cerebrovascular disease and antiphospholipid antibody syndrome.

Thyroid disorders are commonly associated with coagulopathy. Patients with hyperthyroidism have increased risk for developing thromboembolic accidents, which are favoured by a simultaneous presence of antiphospholipid antibodies syndrome. in this paper, we describe the case of a patient with Graves' disease, who developed strokes with antiphospholipid antibodies syndrome.

[Treatment of super super morbid obesity by sleeve gastrectomy].

Unlabelled: INTEREST OF WORK: The longitudinal or "sleeve" gastrectomy was recently introduced into the therapeutic arsenal of the bariatric surgeon. It is a restrictive procedure that reduces stomach capacity by 75%. We present here a preliminary experience with four patients.