Familial lupus in Tunisia: a series of 14 families.

The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in which the diagnosis of lupus could be verified in at least two relatives were included in the study. All patients fulfilled four or more criteria defined by the American College of Rheumatology. Twenty-seven patients (23 females and 4 males) with familial SLE among a cohort of 253 SLE patients were found, resulting in a frequency of 10.67%. No significant differences were found between familial SLE cases and their controls in terms of sex ratio, mean age at onset and clinical and serological manifestations, which is consistent with the results of other series reported in the literature. Our results support the importance of carrying out more genetic studies within families of SLE in order to have a better understanding of the genetic and molecular mechanisms of the disease.

[Inherited kidney stones: A nephrology center experience]. / Lithiase urinaire héréditaire : expérience d'un service de néphrologie.

INTRODUCTION: Genetic factors must be considered in etiological diagnosis of urinary lithiasis. The aim of this study was to determine clinical, metabolic characteristics and the progression of hereditary urinary lithiasis in our patients. METHODS: A retrospective study was conducted between 2008 and 2018 and 60 patients were included. Patients were referred to our department from pediatrics departments to be followed-up in adulthood in 9 cases, for etiological investigation in 42 cases and for chronic renal failure in 9 cases. RESULTS: Thirty-five men and twenty-five women were enrolled in this study with a M/F sex ratio equal to 1.4. The mean age at the time of diagnosis of the hereditary character of the urinary lithiasis was 28.6years (3months-63years). The average delay between the onset of the lithiasis disease and the etiological diagnosis was 8years (0-42years). We noted 31 cases of cystinuria, 18 cases of primary hyperoxaluria type 1 with two mutations (I244T in 14 cases, 33-34 Insc in 23 cases) and 11 cases of renal tubulopathy. Fourteen patients were affected with chronic renal failure, of which five were in the end-stage renal disease. Crystalluria was positive in 62% of cases. The morpho-constitutional analysis of stones was performed in 37 cases and it contributed to the diagnosis in 29 cases. After an average follow-up of 16years, we noted normal renal function in 42 cases, chronic renal failure in 7 cases, hemodialysis in 10 cases all with primary hyperoxaluria and transplantation in 1 case. CONCLUSION: The etiological diagnosis of hereditary urinary lithiasis in our study was made with considerable delay. Cystinuria was the most frequent etiology and primary hyperoxaluria was the most serious affection. LEVEL OF EVIDENCE: 4.

Ovarian masses in pediatric patients: a multicenter study of 98 surgical cases in Tunisia.

Ovarian masses requiring surgical intervention are uncommon in the pediatric population. Our aim is to report results of a multicentric Tunisian study concerning the clinical practice and the management of pediatric ovarian masses and to identify the factors that are associated with ovarian preservation. Between January 2000 and December 2015, 98 pediatric patients (<14 years) were surgically treated for ovarian masses at the five pediatric surgery departments in Tunisia. Ninety-eight patients were included in this study. The mean age of the patients at time of surgery was 8.46 ± 4.87 years. Sixty-three ovarian masses (64.3%) were non-neoplastic lesions, 24 (24.5%) were benign tumors, and 11 (11.2%) were malignant neoplasms. Conservative surgery (ovarian-preserving surgery) was successfully performed in 72.4% of the benign lesions, whereas only three patients (27.3%) with malignant tumors underwent ovary-sparing tumor resection (p < .001). The mean diameter of the tumors in the patients who underwent oophorectomy was significantly larger than that in the patients who underwent conservative surgery (7.8 ± 3.9 cm vs. 5.7 ± 2.9 cm, respectively, p = .001). In our study, the risk factors for oophorectomy were a malignant pathology and large tumor size. In accordance with the Gynecologic Cancer Intergroup consensus, we recommend that surgical management of ovarian masses in children should be based on ovarian-preserving surgery.

Hydroxychloroquine-induced hyperpigmentation in systemic diseases: prevalence, clinical features and risk factors: a cross-sectional study of 41 cases.

Introduction Hydroxychloroquine is an antimalarial agent widely prescribed in internal medicine, rheumatology and dermatology. Its use can be complicated by various side effects including skin pigmentation. Objectives The aim of the study is to review epidemiological, clinical features and risk factors of hydroxychloroquine-induced pigmentation. Materials and methods We performed a cross-sectional study conducted over a period of 5 months. During this period, patients who had been treated with hydroxychloroquine for over 6 months, in the internal medicine department, underwent a complete dermatological examination. All patients completed a structured questionnaire to collect demographic data, dosage and treatment duration of hydroxychloroquine, other drug intake, hydroxychloroquine indication, and presence of pigmentary changes on the skin, nail, hair, and mucosa. Results A total of 41 patients (38 women and 3 men) were included in the study. The mean age was 39.2 ± 15.4 years. The hydroxychloroquine was indicated for systemic lupus erythematosus in 73.2%, dermatomyositis in 12.2%, rheumatoid arthritis in 9.8%, actinic lichen and sarcoidosis each in 2.4%. Cutaneous pigmented lesions were found in 21 cases (51%), mucous pigmentation in 5 cases (12%) and nail pigmentation in 1 case (2.5%). In 12 of 41 (29%) of the hydroxychloroquine users, we conclude a hydroxychloroquine-induced pigmentation. There were 11 women and one man with a mean age of 43 years and all of them were systemic lupus erythematosus patients. Pigmented lesions were located on the lower limbs in seven cases, the face in two cases, lips in two cases and the gum in two cases. Pigmentation appeared after a median duration of hydroxychloroquine treatment of 32 months with a median cumulative dose of 361 g. Overall, two patients reported that the appearance of pigmented lesions was preceded by the occurrence of ecchymotic areas following microtrauma. Significant association was found between hydroxychloroquine-induced pigmentation and treatment with oral anticoagulants and/or antiplatelet agents ( p = 0.03). Conclusion Our systematic examination of patients demonstrated that hydroxychloroquine-induced pigmentation is not rare. The imputability of hydroxychloroquine in the genesis of this discoloration is difficult to establish. Our study supports the hypothesis that ecchymosis, platelet antiaggregants and oral anticoagulants may be the main predisposing factors to hydroxychloroquine-induced pigmentation.

Hybrid laparoendoscopic single-site (LESS) pyeloplasty: Initial experience in children.

BACKGROUND AND OBJECTIVE: Mini-invasive surgery is still evolving to get better surgical conditions for patients with ureteropelvic junction obstruction. We used technical modifications (hybrid pyeloplasty) that simplify surgical steps of laparoendoscopic single-site pyeloplasty in children. Our aim was to compare hybrid pyeloplasty to laparoendoscopic single-site pyeloplasty and to open pyeloplasty. PATIENTS AND METHODS: We retrospectively reviewed records of patients with ureteropelvic junction obstruction aged<14years undergoing pyeloplasty at our institute from January 2011 to December 2015. Demographic data, laterality, operative time, length of hospital stay, drainage tubes, and postoperative complications were recorded. Surgical outcomes were evaluated based on renal sonography and Lasix diuretic renography. RESULTS: Among 38 patients, 17 underwent open pyeloplasty (group I), 10 had laparoendoscopic single-site pyeloplasty (group II) and 11 had hybrid pyeloplasty (group III). The mean age at the time of operation was 55 months. The operative time in group III was significantly shorter than that in group I and group II (P<0.001). The shortest median hospital stay was noted in the group III. The mean follow-up period was 26 months (range: 6-52 months). CONCLUSION: The hybrid pyeloplasty using LESS combine the successful outcomes of open surgery and advantages of minimally invasive surgery. It offers small incision surgery, good working space, short operation time, secure anastomosis and good cosmetic results. LEVEL OF EVIDENCE: 5.

Quality of life in systemic lupus erythematosus: description in a cohort of French patients and association with blood hydroxychloroquine levels.

OBJECTIVES: Benefits of hydroxychloroquine (HCQ) use on physician reported outcomes are well documented in systemic lupus erythematosus (SLE). We assess for the first time the association and predictive value of blood HCQ levels towards health-related quality of life (HRQOL) in SLE. METHODS: Data from the PLUS study (a randomized, double-blind, placebo-controlled, multicentre study) were utilized. Blood HCQ levels were quantified by high-performance liquid chromatography along with HRQOL assessments (Medical Outcomes Study-SF-36) at baseline (V1) and month 7 (V2). RESULTS: 166 SLE patients' data were analysed. Mean (SD) age and disease duration were 44.4 (10.7) and 9.3 (6.8) years. Eighty-seven per cent were women. Mean (SD, median, IQR) HCQ concentrations in the blood at V1 were 660 (314, 615, 424) ng/ml and increased to 1020 (632, 906, 781) ng/ml at V2 (mean difference 366 units, 95% confidence interval -472 to -260, p < 0.001). No significant correlations between HCQ concentrations with HRQOL domains at V1 or V2 were noted. There were no differences in HRQOL stratified by HCQ concentrations. HCQ concentrations at V1 or changes in HCQ concentration (V2-V1) were not predictive of HRQOL at V2 or changes in HRQOL (V2-V1). CONCLUSIONS: No association of HCQ concentrations with current or longitudinal HRQOL were found in SLE.

Impact of electronic-cigarette refill liquid on rat testis.

Electronic cigarettes (e-cigarettes) are becoming the fashionable alternative to decrease tobacco smoking, although their impact on health has not been fully assessed yet. The present study was designed to compare the impact of e-cigarette refill liquid (e-liquid) without nicotine to e-liquid with nicotine on rat testis. For this purpose, e-liquid with nicotine and e-liquid without nicotine (0.5 mg/kg of body weight) were administered to adult male Wistar rats via the intraperitoneally route during four weeks. Results showed that e-liquid with or without nicotine leads to diminished sperm density and viability, such as a decrease in testicular lactate dehydrogenase activity and testosterone level. Furthermore, quantitative real-time polymerase chain reaction (qRT-PCR) analysis identified a reduction in cytochrome P450 side-chain cleavage (P450 scc) and 17 beta-hydroxysteroid dehydrogenase (17ßHSD) mRNA level, two key enzymes of steroidogenesis. Following e-liquid exposure, histopathological examination showed alterations in testis tissue marked by germ cells desquamation, disorganization of the tubular contents of testis and cell deposits in seminiferous tubules. Finally, analysis of oxidative stress status pointed an outbreak of antioxidant enzyme activities such as superoxide dismutase, catalase and gluthatione-S-transferase, as well as an important increase in sulfhydril group content. Taken together, these results indicate that e-liquid per se induces toxicity in Wistar rat testis, similar to e-liquid with nicotine, by disrupting oxidative balance and steroidogenesis.

Oxidative damage and histopathological changes in lung of rat chronically exposed to nicotine alone or associated to ethanol.

Smoking is the most important preventable risk factor of chronic obstructive pulmonary disease and lung cancer. This study was designed to investigate oxidative damage and histopathological changes in lung tissue of rats chronically exposed to nicotine alone or supplemented with ethanol. Twenty-four male Wistar rats divided into three groups were used for the study. The nicotine group received nicotine (2.5mg/kg/day); the nicotine-ethanol group was given simultaneously same dose of nicotine plus ethanol (0.2g/kg/day), while the control group was administered only normal saline (1 ml/kg/day). The treatment was administered by subcutaneous injection once daily for a period of 18 weeks. Chronic nicotine administration alone or combined to ethanol caused a significant increase in malondialdehyde (MDA) level, superoxide dismutase (SOD) activity and catalase (CAT) activity in lung tissue compared to control rats suggesting an oxidative damage. However, these increases were mostly prominent in nicotine group. The histopathological examination of lung tissue of rats in both treated groups revealed many alterations in the pulmonary structures such as emphysema change (disappearance of the alveolar septa, increased irregularity and size of air sacs) and marked lymphocytic infiltration in perivascular and interstitial areas. However, the changes characterized in the nicotine group (pulmonary congestion, hemorrhage into alveoli and interstitial areas, edema) were more drastic than those observed in the nicotine-ethanol group, and they can be attributed to a significant degree of capillary endothelial permeability and microvascular leak. Conversely, the ethanol supplementation caused an appearance of fatty change and fibrosis in pulmonary tissue essentially due to a metabolism of ethanol. Finally, the lung damage illustrated in nicotine group was more severe than that observed in the nicotine-ethanol group. We conclude that the combined administration of nicotine and ethanol may moderate the effect of nicotine administered independently by counteractive interactions between these two drugs.

[Comparison of the inguinal and scrotal approaches for the treatment of cryptorchidism in children]. / Traitement chirurgical de la cryptorchidie chez l'enfant : comparaison des voies d'abord scrotale (Bianchi) et inguinale.

INTRODUCTION: The single scrotal incision orchidopexy was described by Bianchi in 1989. Despite its popularity, the place of this technique in the treatment of cryptorchidism in children is still unclear. AIM OF THE STUDY: To evaluate and compare the outcomes of the conventional inguinal approach and the scrotal approach for the treatment of palpable undescended testis in children. METHODS: A prospective study for all patients with palpable undescended testis undergoing orchidopexy between January 2011 and December 2013 was conducted. Totally 200 patients were randomly divided into two groups: group 1: two incisions inguinal approach (80 patients, 100 testis); group 2: single scrotal incision approach (89 patients, 100 testis). MAIN RESULTS: The patients' mean age was 53.9±13 months in group 1 and 45.8±9 months in group 2. There was no statistical difference between the two groups in terms of patient age (P=0.8) and location of the undescended testis (P=0.359). Operative time was statistically significantly lower in the scrotal group (P<0.05). There was a significant difference in the complications rates between the two groups. CONCLUSION: The single scrotal incision orchidopexy is safe and effective for undescended testicles palpable in the inguinal canal or in high scrotal position.

Clinical implications and prognostic significance of thrombocytopenia in Tunisian patients with systemic lupus erythematosus.

OBJECTIVE: The objective of this study was to determine the role of thrombocytopenia in terms of disease manifestations, disease activity and prognostic impact in a cohort of Tunisian systemic lupus erythematosus (SLE) patients. METHODS: The charts of 182 SLE patients diagnosed between 1996 and 2009 were retrospectively reviewed. The clinical manifestations, immunological profiles, disease activity, SLE relapses and survival rate at the time of follow-up were recorded. RESULTS: Thrombocytopenia (<100,000/mm(3)) and severe thrombocytopenia (<20,000/mm(3)) was observed in 19.2% and 4.4%, respectively. Hemorrhagic manifestations were observed in 11 patients (31.4%). Thrombocytopenia was significantly associated with splenomegaly, renal disorders, neurologic manifestations, arterial thrombosis, leucopenia, low C3 level at SLE diagnosis, SLE relapses and infectious complications. Using multivariate logistic regression, thrombocytopenia was independently associated with splenomegaly (odds ratio [OR] = 9.36, p = 0.001), neurologic manifestations (OR = 4.6, p = 0.006) and renal disease (OR = 4.15, p = 0.02). By multivariable Cox proportional hazard regression analyses, thrombocytopenia was associated with the occurrence of mortality after adjusting for variables known to influence it (hazard ratio [HR] = 1.79, p = 0.045). The cause of death was unrelated to hemorrhagic complications in all patients. CONCLUSION: Our results, concerning North-African SLE patients, confirm the findings of previous studies which suggest that thrombocytopenia correlates with more severe disease and has a negative impact on the survival of lupus patients.

[Laryngotracheobronchial foreign body in children: predictive factors of respiratory sequelae]. / Le corps étranger laryngo-trachéo-bronchique chez l'enfant : facteurs prédictifs des séquelles respiratoires.

BACKGROUND: Inhalation of laryngotracheobronchial foreign body in children is a serious accident that may compromise the prognosis of the child and the respiratory function in the long term. AIM: identify the predictive factors of respiratory sequelae of laryngotracheobronchial foreign body inhalation. METHODS: This retrospective study was conducted in the children hospital of Tunis during a period of nine years (2000 - 2008). In all statistical tests, the significance level was set at 0.05. RESULTS: 60 children were included in the study. The average age was 24.9 +/- 3.4 months. 2 / 3 of the children were boys. The foreign body was plant in 80% of cases. The penetration syndrome was reported in 83.7% of cases. The average time of stay of foreign body was 14 days. The chest radiograph was abnormal in 77.4% of cases. Endoscopic extraction was performed in 59 cases and a pneumectomy was conducted in one child. 30 children were followed for an average of 23 months. 18 children had not respiratory sequelae (clinical, radiological and scintigraphic). 10 children had respiratory sequelae (clinical and radiological and/or scintigraphic) at the last follow-up and four patients developed bronchial dilatation. Respiratory sequelae were correlated with the stay period of the foreign body exceeding 84H. Neither age, nor sex, nor the nature of foreign body or its location, nor the presence of radiological opacity at the initial radiograph, were predictive factors of respiratory sequelae. CONCLUSION: The inhalation of foreign body is a serious accident affecting essentially male infants. Clinical, radiological and scintigraphic follow up is mandatory.

[Recurrent inflammatory myofibroblastic tumor with renal, retroperitoneal and lymph node involvement]. / Tumeur myofibroblastique inflammatoire récurrente avec triple localisation, rénale, rétropéritonéale et ganglionnaire.

Inflammatory myofibroblastic tumors are uncommon and benign tumors with unknown aetiology. First reported in the lungs, the inflammatory myofibroblastic tumors have been observed in other locations, especially in the abdomen and the pelvis. We report a 14-year-old adolescent female, who presented sequentially an inflammatory pseudotumor of lymph node, the left kidney and the retroperitoneum. Extrapulmonary inflammatory myofibroblastic tumors are mesenchymal solid tumors. They are frequently circumscribed and confined to a single organ. The recurrence of some inflammatory myofibroblastic tumors and their expression of chromosomal abnormalities found in some types of lymphoma suggest that some of these lesions constitute a true neoplastic process.

[Infectious complications in systemic lupus erythematosus: a series of 146 patients]. / Complications infectieuses au cours du lupus érythémateux systémique: étude de 146 patients.

PURPOSE: The objective of this study was to analyse the incidence and characteristics of infection in systemic lupus erythematosus (SLE) and to determine the related risk factors. METHODS: A retrospective review of a well documented population of 146 Tunisian patients with SLE was undertaken. All patients fulfilled four or more criteria defined by the American College of Rheumatology. RESULTS: Sixty-five patients (44.5%) suffered at least one infection. Skin, urinary tract and lung were the most affected localizations. Bacterial infections (67.5%) were the most common. In the univariate analysis, nephritis, neuropsychiatric, leucopenia, lymphopenia, decreased complement (CH50, C3 and C4), SLE activity, ever use of steroids and cyclophosphamide were significantly associated with infection. In the multivariate analysis, nephritis, neuropsychiatric and lymphopenia were found to be significant. CONCLUSION: SLE has an increased overall risk for infection and they are especially prone to develop urinary, cutaneous and pulmonary infections. Infectious complications seem to be more associated with major organ damage than with steroid or immunosuppressive therapy.

[Kikuchi-Fujimoto's disease and connective tissue disease: a report of three cases]. / Maladie de Kikuchi-Fujimoto et connectivite: à propos de trois observations.

INTRODUCTION: Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis, clinicopathological entity of unknown aetiology, is a rare and benign cause of cervical lymphadenopathies. It can be associated with various auto-immune diseases especially systemic lupus erythematous (SLE) or with some infectious agents. EXEGESIS: This report describes a survey of three patients who developed Kikuchi's lymphadenitis occurring concomitantly with connective tissue disease: LES in two cases and non determined connective tissue disease in the other case. Comparing the clinical, histopathological and evolutionary findings to the literature allows to identify the main features of this self-limiting disorder: occurrence in young women; clinical presentation with cervical lymphadenopathy in a context of fever and asthenia. The definite diagnosis is usually made through histopathological examination of a lymph node biopsy. Disease course is generally favourable with spontaneous resolution within few weeks. It may be improved with corticosteroid treatment in patients with systemic involvement. Prognosis is related to the associated disease. CONCLUSION: Kikuchi-Fujimoto's disease is a rare and benign cause of cervical lymphadenopathy that could resemble lymphoma, tuberculosis and may be associated with a characterized systemic disease.

[Osteomalacia revealing Sjögren's syndrome: a case report]. / Ostéomalacie révélatrice d'un syndrome de Gougerot-Sjögren : à propos d'un cas.

INTRODUCTION: The most common renal disease in Sjögren's syndrome is tubulo-interstitial nephritis, responsible for tubular acidosis in around 20 % of patients. Osteomalacia exceptionally occurs as the first manifestation of a renal tubule disorder due to a Sjögren's syndrome. EXEGESIS: We report a case of a 20-year-old woman with tubular acidosis induced osteomalacia secondary to primary Sjögren's syndrome. Improvement was obtained with bicarbonates, vitamin D, calcium and high-dose steroid therapy. CONCLUSION: During Sjögren's syndrome, osteomalacia can complicate the distal renal tubular acidosis. In spite of the rare cases of osteomalacia revealing Sjögren's syndrome, this auto-immune disease must appear in the list of the aetiologies of osteomalacia.