Granulomatosis with Polyangiitis (Wegener Granulomatosis) Mimicking Infective Endocarditis

Introduction Infective endocarditis (IE) has been reported to mimic granulomatosis with polyangiitis (GPA) and to test positive to antineutrophil cytoplasmic antibodies (ANCA), which may lead to a misdiagnosis and inappropriate treatment. Case presentation We report a case of a 59-year-old man admitted for purpura, gangrenous digital infarcts and glomerulonephritis. The diagnosis of IE was initially considered on the basis of heart murmur and two positive haemocultures to corynebacterium. Ineffectiveness of antimicrobial therapy and further neurological and nasal manifestations supported the diagnosis of GPA. Conclusions IE should be ruled out before initiation of immunosuppressive treatment. If the disease progresses despite antimicrobial treatment, vascular diseases should be rapidly taken into account in differential diagnosis and treated early to avoid fatal complications

A Rare Manifestation of Crohn's Disease: Sinonasal Granulomatosis. Report of a Case and Review of Literature

Crohn’s disease is a granulomatous inflammatory bowel disease. Its pathologic findings include non-contiguous chronic inflammation and non-caseating granulomas, sometimes with extra-intestinal localizations. Sinonasal manifestations of Crohn’s disease are quite rare and only a few cases have been reported up to date in the worldwide literature. They are characterized by chronic mucosal inflammation, obstruction, bleeding and occasionally septal perforation. We report a case of sinonasal granulomatosis revealing Crohn’s disease in a 22-year-old woman and go over the available literature on sinonasal involvement in Crohn’s disease

Epidemiological, clinical, and therapeutic characteristics of Behçet's disease: a monocentric study in Tunisia

Introduction: to describe the epidemiological, clinical, therapeutic and evolving characteristics of Behçet´s disease and identify prognostic factors. Methods: we have realized a retrospective, single-center study, conducted over a period of 26 years and including 130 patients presenting Behçet´s disease and hospitalized in an Internal Medicine Department. Results: the mean age of the Behçet´s disease at onset was 30.3 ±8.8 years and that at diagnosis was 34.6 ±9.4 years. The sex ratio (male/female) was 2.5. The mean delay of diagnosis was 53.5 months. Oral aphthosis was constant. The frequency of the manifestations was: genital aphtosis 71.5%, pseudofolliculitis 84.6%, erythema nodosum 11.5%, positive pathergy test 50%, ocular disease 36.9%, venous thrombosis 30%, arterial disease 4.6%, joint damage 30.8%, neurological disease 19.2% and digestive disease 0.8%. The male gender was significantly associated with ocular involvement (p =0.02), venous disease (p =0.01) and occurrence of relapses (p =0.01). The mean follow up was 68.5 ± 77.3 months. The poor survival prognostic factors were male gender, ocular involvement, venous disease, cardiovascular disease, a duration of follow up ≤12 months and a diagnostic delay ≤ 24 months. Conclusion: improving the prognosis of Behçet´s disease requires a shortening of the time to diagnosis, multidisciplinary collaboration, intensive treatment of functional threats, regular monitoring, and patient adherence

Clinical Significance of Epigenetic Inactivation of hMLH1 and BRCA1 in Tunisian Patients with Invasive Breast Carcinoma

Aberrant hypermethylation of gene promoter regions is one of the mechanisms for inactivation of tumour suppressor genes in many human cancers including breast carcinoma. In the current study, we aimed to assess by MSP, the methylation pattern of two cancer-related genes involved in DNA repair: hMLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) and BRCA1 (breast cancer 1, early onset) in 78 primary breast cancers from Tunisian patients. The methylation frequencies were 24.36% for hMLH1 and 46% for BRCA1. BRCA1 methylation correlated with age at diagnosis (P = .015) and 5-years disease free survival (P = .016) while hMLH1 methylation was more frequent in larger tumors (P = .002) and in presence of distant metastasis (P = .004). Furthermore, methylation of hMLH1 significantly correlated with high level of P53 expression (P = .006) and with overall survival (P = .015) suggesting that silencing of hMLH1 through aberrant promoter methylation could be used as a poor prognosis indicator in breast cancer

Particularites de l’epilepsie au cours des maladies inflammatoires du systeme nerveux central

Introduction : Les crises épileptiques (CE) font partie des manifestations neurologiques des maladies inflammatoires (MI). Elles constituent un tournant évolutif grave de la maladie. Objectifs : Nous avons évalué les particularités sémiologiques, électriques, radiologiques, thérapeutiques et évolutives de l’épilepsie au cours des MI du système nerveux central (SNC). Nous avons également discuté les mécanismes physiopathologiques de l’épilepsie ainsi que les facteurs prédictifs de survenue de CE chez ces patients. Méthodes : C’est une étude rétrospective incluant les patients suivis pour épilepsie dans le cadre d’une MI du SNC. Tous nos patients ont bénéficié d’une imagerie cérébrale. Résultat : Nous avons colligé 32 patients (11 avec sclérose en plaque, 6 avec maladie de Behcet et 15 avec lupus érythémateux disséminé). Le délai des CE au cours des MI était de 3,2 ans. Elles étaient généralisées dans 62,5 % des cas. L’IRM a montré des lésions sous corticales et des lésions du tronc cérébral respectivement dans 71,8 % et 25% des cas. Une thrombose veineuse cérébrale était diagnostiquée chez 3 malades. L’EEG a objectivé des ondes lentes dans 34% des cas, et des anomalies paroxystiques chez 3 patients. Le phénobarbital était le traitement le plus prescrit. Le contrôle des CE était obtenu dans la majorité des cas. Conclusion : La survenue des CE au cours des MI pose un problème de prise en charge. Un diagnostic précoce et un traitement de l’épilepsie permettent de contrôler ces crises afin d’éviter les états de mal épileptiques qui mettent en jeu le pronostic vital des patients. Mots clés: Epilepsie, Facteurs de risque, Maladies inflammatoires  Particularities of epilepsy associated with inflammatory diseases of the central nervous systemIntroduction: The frequency of the central nervous system involvement in autoimmune disorders is very variable. Seizures are among the most common neurological manifestations, and can be occasionally the presenting symptom.Methods: All files of 32 patients with autoimmune disorder diagnosed with epilepsy were evaluated retrospectively (11 with multiple sclerosis, 6 with Behcet disease, and 15 systemic lupus erythematosus). The demographic data, clinical findings including seizures, EEG and neuroimaging findings were reviewed. Results: The sex ratio was 0.45 (10H / 22F). Seizures started 3.2 years after the onset of the inflammatory diseases. They were during either the first or following neurological attacks in 68.7% of cases. 20 patients (62,5%) had only generalized tonic-clonic seizures. Brain magnetic resonance imaging (MRI) was performed to all patients. Sub-cortical and brainstem lesions were identified respectively in 71,8 % and 25%. MRI revealed cerebral sinus thrombosis in three patients. The EEG revealed focal epileptiform discharges in three patients. In 12 patients (34%) slow waves were seen. Antiepileptic drugs were prescribed in all cases (phenobarbital :53%, valproic acid: 31%, Carbamazepine: 15%). A sufficient control of seizures was obtained in most cases. Conclusion: Seizures often complicate systemic autoimmune disorders through a variety of mechanisms. A better understanding of the mechanisms of epileptogenesis in those patients could lead to targeted treatments and better outcomes. Key words: Epilepsy, inflammatory disease, risk factor

Kaposi’s Sarcoma Presenting As Lymphadenopathy In An Immunocompetent Patient

Introduction: Kaposi’s sarcoma (KS) is an angioproliferative disorder first described in 1872 by Moritz Kaposi. Four main clinical presentations of KS have been described: classic, endemic, iatrogenic and epidemic. KS involvement of the lymph nodes is extremely uncommon in the classical variant form, especially if it precedes the skin manifestations. We describe the case of an elderly HIV-negative patient presenting with lymphadenopathy who was found to have KS. Case Report: A 67-year-old patient was admitted for exploration of polyadenopathies in the context of a general decline in health. Physical examination revealed an erythematosus left lower limb rash associated with angiomatous nodules and multiple lymphadenopathies. The diagnosis of erysipelas in the left leg was retained and the patient was treated with good evolution of the rash but persistence of the angiomatous nodules and the polyadenopathies. Skin and lymph node biopsies led to a diagnosis of KS. The patient is proposed for polychemotherapy. Conclusion: KS must be suspected in lymphadenopathies despite the absence of typical cutaneous signs of the disease and in immunocompetent patients

BCG-SSI® vaccine-associated lymphadenitis : Incidence and management

Publisher Copyright: © 2016 The Lithuanian University of Health SciencesBackground and objective There is a high incidence of childhood tuberculosis in Latvia, including children aged less than 1 year, while BCG-associated lymphadenitis is one of the most frequent adverse events requiring surgical treatment. The aim of this study was to analyze the incidence of purulent BCG adenitis through-out the population of Latvia after the introduction of BCG-SSI® vaccine and to evaluate the treatment results. Material and methods The study included 194 patients. All patients had received the BCG-SSI® vaccine during the first week of life routinely or at a later time according to the indications. The indications for surgical treatment were lymph node destruction also affecting the skin. All patients in this study received surgical treatment – the affected lymph node extirpation. Results The mean age of the patients was 5.12 ± 0.96 months. A total of 172 patients had purulent axillar lymphadenitis, 14 had purulent supraclavicular lymphadenitis, 8 patients had lymphadenitis at both localizations. During the whole study period the incidence of BCG adenitis varied from 0.02% to 0.36%, while the mean rate was 0.11% ± 0.08% from 184,068 vaccinated children during the study period. We observed an increasing trend in the incidence of BCG lymphadenitis during the study period. The primary and complete healing rate at the end of period was 99.5% (n = 193) following an affected lymph node extirpation. The mean hospitalization time after the operation was 3.71 ± 0.18 days. Conclusions The incidence of BCG-SSI® vaccine associated purulent lymphadenitis varied widely with an increasing trend, followed by the return to the product characteristic limits. Indications for the surgical treatment should not be changed. Extirpation of the purulent BCG adenitis is a safe treatment method and leads to the primary wound healing in the majority of cases.publishersversionPeer reviewe

Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor

Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

Introduction: Recent advances in sequencing technologies have significantly increased our capability to acquire large amounts of genetic data. However, the clinical relevance of the generated data continues to be challenging particularly with the identification of Variants of Uncertain Significance (VUSs) whose pathogenicity remains unclear. In the current report, we aim to evaluate the clinical relevance and the pathogenicity of VUSs in DNA repair genes among Tunisian breast cancer families.Methods: A total of 67 unsolved breast cancer cases have been investigated. The pathogenicity of VUSs identified within 26 DNA repair genes was assessed using different in silico prediction tools including SIFT, PolyPhen2, Align-GVGD and VarSEAK. Effects on the 3D structure were evaluated using the stability predictor DynaMut and molecular dynamics simulation with NAMD. Family segregation analysis was also performed.Results: Among a total of 37 VUSs identified, 11 variants are likely deleterious affecting ATM, BLM, CHEK2, ERCC3, FANCC, FANCG, MSH2, PMS2 and RAD50 genes. The BLM variant, c.3254dupT, is novel and seems to be associated with increased risk of breast, endometrial and colon cancer. Moreover, c.6115G>A in ATM and c.592+3A>T in CHEK2 were of keen interest identified in families with multiple breast cancer cases and their familial cosegregation with disease has been also confirmed. In addition, functional in silico analyses revealed that the ATM variant may lead to protein immobilization and rigidification thus decreasing its activity. We have also shown that FANCC and FANCG variants may lead to protein destabilization and alteration of the structure compactness which may affect FANCC and FANCG protein activity.Conclusion: Our findings revealed that VUSs in DNA repair genes might be associated with increased cancer risk and highlight the need for variant reclassification for better disease management. This will help to improve the genetic diagnosis and therapeutic strategies of cancer patients not only in Tunisia but also in neighboring countries