Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.

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.

Safety Assessment and Potential Risks of the Glucagon Stimulation Test in the Diagnosis of Secondary Adrenal Insufficiency.

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.

Impact of a tailored-care education programme on maternal and neonatal outcomes in pregnant women with gestational diabetes: a randomized controlled trial.

Introduction: patient education is a key component of positive pregnancy and childbearing experiences, especially in women with gestational diabetes (GDM). Scant studies assessed the impact of tailored self-care education on pregnancy outcomes in pregnant women with gestational diabetes mellitus (GDM). This study aimed to assess the effect of a tailored-care education programme on maternal and neonatal outcomes in pregnant women with GDM during pregnancy and at birth. Methods: this was a randomized controlled trial conducted in a university hospital in the centre of Tunisia, from October 2020 to May 2021. The intervention group (n=61) received a self-care education programme with the usual care plan for GDM, while the control group received only the usual care plan (n=60). This trial was registered in the Pan African Clinical Trials Registry under the registration number PACTR202106591503674. Results: at baseline, there was no significant difference between groups in terms of sociodemographic and clinical characteristics. The findings showed that the intervention significantly reduced maternal and neonatal hospitalizations (p=0.000), caesarean section (p=0.002), preterm labour (p=0.002), macrosomia (p=0.000), foetal distress (p=0.001), newborn respiratory complication (p=0.01) and hypoglycaemia (p=0.000). Conclusion: implementing a tailored-care education for pregnant women with GDM had a positive impact on mother and infant clinical outcomes. Midwives and endocrinologists should use this programme to reduce maternal and neonatal complications during and after pregnancy.

Disorders of sodium balance in COVID-19 patients: two Tunisian patients report.

Coronavirus disease 2019 (COVID-19) was first reported in December 2019. The disease is caused by severe acute respiratory syndrome virus corona virus 2 (SARS-CoV-2). Mild respiratory symptoms are the most common manifestations of SARS-CoV-2, but new signs are constantly being discovered as it spreads. Disorders of sodium balance are increasingly described in patients with SARS-CoV-2. We report, here, the cases of two patients presented with COVID-19 and in whom we discovered sodium disorders. The first patient is a 74-year-old man who presented with fatal hypernatremia. The second patient is a 66-years-old man presented with COVID-19 and euvolemic hyponatremia attributed to syndrome of inappropriate anti-diuretic hormone secretion (SIADH). This hyponatremia persisted long after the respiratory signs disappeared. Sodium balance disorders are increasingly described in the literature; special attention should be paid to the electrolyte status of COVID-19 patients. Pathophysiological mechanisms associating SARS-CoV-2 with these disorders are being studied.

Association of an empty sella and grave´s disease in a patient with acromegaly: a case report.

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.

Pituitary apoplexy of a giant prolactinoma during pregnancy.

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.

Relationship between level of education and podiatry risk in diabetic patients.

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.

Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review.

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.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.

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.

Clinical patterns of third nerve palsies in diabetic patients.

BACKGROUND: Neuropathy is a frequent complication in diabetic patients with variable clinical presentations and evolutions. AIM: The purpose of the study was to specify the clinical features of diabetic third nerve palsy, to assess the risk factors and to observe its evolution. METHODS: We report a series of 11 diabetic patients with oculomotor paralysis collected in the department of endocrinology and diabetology of FarhatHached Hospital of Sousse between 1996 and 2005. RESULTS: Our study was about 6 men and 5 women with an average age of 63.6 ± 13.7 years. All patients had type 2 diabetes.  Eight patients presented with diplopia, three with periocular pain and 6 with headache. The oculomotor palsy was unilateral in all cases. All patients were in glycemic imbalance at the time of the diagnosis of ptosis and they were at high cardiovascular risk. The evolution under optimal equilibrium of diabetes and control of cardiovascular risk factors was marked by regression and disappearance in 4 patients, homo or contralateral recurrence in 4 patients and persistence of the palsy in 1 patient. CONCLUSION: Glycemic equilibrium and ischemic phenomena due to cardiovascular risk factors are at the root of these oculomotor paralyses in diabetic patients. The evolution of diabetic mononevritis remains unpredictable despite the control of blood glucose levels and cardiovascular risk factors.

Evaluation of the risk of metabolic syndrome among shift workers in Tunisia.

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.

Biochemical Data and Metabolic Profiles of Male Exclusive Narghile Smokers (ENSs) Compared With Apparently Healthy Nonsmokers (AHNSs).

Studies evaluating the metabolic profiles of ENSs are scarce and presented controversial conclusions. This study aimed to compare the metabolic profiles of ENSs' and AHNSs' groups. Males aged 25-45 years and free from a known history of metabolic and/or cardiovascular diseases were included. According to the smoking status, two groups of ENSs and AHNSs were identified. Body mass index (BMI, kg/m2), waist circumference (WC, cm), systolic and diastolic blood pressures (SBP, DBP, mmHg), fasting blood data in mmol/L (blood glycemia [FBG], triglycerides [TG], total cholesterol [TC], high- and low- density lipoprotein cholesterol [HDL-C, LDL-C]) and obesity status were evaluated. The metabolic syndrome (MetS) was defined according to the 2006 International Diabetes Federation (IDF) recommendations. Data were expressed as mean ± standard deviation ( SD) or percentages. Compared to the AHNSs' group ( n = 29), the ENSs' one ( n = 29) had (a) higher values of BMI (26.5 ± 2.3 vs. 28.2 ± 3.6), WC (95 ± 7 vs. 100 ± 10), and TG (1.22 ± 0.40 vs. 1.87 ± 0.85); and (b) included a lower percentage of males having low HDL-C (82.7% vs. 62.0%), and higher percentages of males having obesity (6.9% vs. 37.9%) or hypertriglyceridemia (10.7% vs. 51.7%). Both the ENSs' and AHNSs' groups: (a) had similar values of FBG (5.38 ± 0.58 vs. 5.60 ± 0.37), TC (4.87 ± 1.16 vs. 4.36 ± 0.74), HDL-C (0.92 ± 0.30 vs. 0.82 ± 0.21), LDL-C (3.09 ± 0.98 vs. 2.92 ± 0.77), SBP (117 ± 9 vs. 115 ± 8), and DBP (76 ± 6 vs. 73 ± 7); and (b) included similar percentages of males having normal weight (17.2% vs. 31.0%); overweight (44.8% vs. 62.1%); android obesity (79.3% vs. 59.6%), hypertension (10.3% vs. 10.3%), hyperglycemia (37.9% vs. 48.2%), and MetS (51.7% vs. 34.5%). There is a need to monitor narghile use among male metabolic patients since it alters some components of the MetS.

[Posttraumatic type 1 diabetes in an army soldier]. / Diabète de type 1 post-traumatique chez un soldat de l'armée.

The influence of stress as a precipitating factor associated with the onset of type 1 diabetes have been widely studied in the literature. The relationship between physical and psychological traumas and diabetes has been rarely studied in the military environment. Posttraumatic diabetes is a controversial topic. We here report the case of a Tunisian soldier, with no previous medical and family history of autoimmune disease who was diagnosed with Type 1 diabetes after a physical aggression occurred during a social conflict between the forces of law and order and the citizens.

[Study of acute inaugural ketosis-prone diabetes in a Hospital in Central-Eastern Tunisian]. / Etude sur le diabète aigu cétosique inaugural dans un hôpital du Centre-Est Tunisien.

Ketosis-prone diabetes is an acute complication of diabetes resulting from ketone accumulation in the blood. Despite the high rate of ketosis-prone diabetes described, there is very little information on the epidemiology of this inaugural complication of diabetes in Tunisia. This study aims to determine the epidemiological and clinical features and the laboratory tests parameters of inaugural ketoses in a Hospital in Tunisian. We conducted a retrospective, cross-sectional exhaustive study of patients admitted with inaugural ketosis over the period January 2010 - August 2016. The study population was divided into 2 groups according to the presence or not of anti-pancreatic autoimmunity: the DAI group consisted of all patients with autoimmunity, the DNAI group consisted of all patients without autoimmunity. Our study included 391 patients, with a sex ratio of 226 men/125 women, the average age was 34 ± 14.33 years. There was a male predominance (68%) in the general population. The age of disease onset was significantly lower in the DAI group. A factor that contributed to ketosis onset was found in 77.7% of the overall study population, it was significantly more frequent in the DAI group than in the DNAI group. The most common factor was viral infections. Thyroid antibodies were significantly higher in the DAI group. Ketosis is a common factor leading to inaugural decompensation of diabetes in Tunisia. Young adult male is the most affected group of population reported in the literature, with the absence of autimmunity, and a clinical profile of type 2 diabetes.

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). 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.

[Catastrophic antiphospholipid syndrome. Report of two cases]. / Syndrome catastrophique des antiphospholipides. A propos de deux observations.

The antiphospholopid syndrome has been associated with thromboembolic events, thrombocytopenia and fetal loss. Some patients with the antiphospholipid syndrome may develop an acutely catastrophic syndrome characterized by multiple vascular occlusions which often results in death. Most patients dye as a result of a combination of cardiac and pulmonary failure. Although trigger factors are present in a minority, in the majority the condition develops quite suddenly. Precipitating factors include infections and trauma (surgical). Treatment of the condition, once recognized, needs to be heroic. Plasmapheresis seems to be useful in several cases who had not responded to conventional therapy (heparin, steroids, immunosuppressive) directed against immunologically mediated intravascular thrombosis. We report here two cases of fatal catastrophic antiphospholipid syndrome and highlight the need for vigilance in the management of patients with antiphospholipid syndrome.