[Autoimmune and inflammatory pathologies associated with systemic scleroderma: Clinical, serological and prognostic profiles. Bi-centric retrospective series in the PACA region]. / Pathologies auto-immunes et inflammatoires associées à la sclérodermie systémique : profils cliniques, sérologiques et pronostiques. Série rétrospective bi-centrique en région PACA.

INTRODUCTION: Systemic sclerosis (SSc) is a rare auto-immune disease, affecting principally women between 40 and 60 years old. It is caracterised by a cutaneous and visceral fibrosis, an alteration of the microvascular network and the presence of autoantibodies. SSc can be associated with another connectivite tissue disease or to other autoimmune diseases, thus defining the overlap syndrome. The goal of our study is to describe these overlap syndromes. METHODS: We have analysed the data of a retrospective and bicentrique cohort, from the internal medicine unit of Hôpital Nord in Marseille and from the internal medicine unit of the Hôpital Sainte-Anne in Toulon, of patients followed for a SSc between January 1st, 2019 and December 1st, 2021. We have collected clinical, imunological features, associated auto-immune and inflammatory diseases with its morbidity and mortality. RESULTS: The cohort included 151 patients including 134 limited cutaneous SSc. Fifty-two (34.4%) patients presented at least one associated auto-immune or inflammatory disease. The association of two connectivite tissue diseases including SSc was found in 24 patients (15.9%), a third with Sjögren's syndrome and a third with autoimmune myositis. The principal associated disease to SSc was the autoimmune thyroiditis found in 17 patients (11.3%). The occurrence of complications (hospitalization, long-term oxygene therapy, death) was not significantly different depending on the existence or not of an overlap syndrom. CONCLUSION: SSc is often associated with other autoimmune diseases. This interrelation between associated pathologies and SSc, modifying sometimes the evolution of SSc, enhances the need of a personalized follow-up.

[The role of the pulmonologist in an armed conflict]. / Place du pneumologue en situation de conflit armé.

INTRODUCTION: Recent news points to the eventuality of an armed conflict on the national territory. STATE OF THE ART: In this situation, pulmonologists will in all likelihood have a major role to assume in caring for the injured, especially insofar as chest damage is a major cause of patient death. PERSPECTIVES: The main injuries that pulmonologists may be called upon to treat stem not only from explosions, but also from chemical, biological and nuclear hazards. In this article, relevant organizational and pedagogical aspects are addressed. Since exhaustiveness on this subject is unattainable, we are proposing training on specific subjects for interested practitioners. CONCLUSION: The resilience of the French health system in a situation of armed conflict depends on the active participation of all concerned parties. With this in mind, it is of prime importance that the pneumological community be sensitized to the potential predictable severity of war-related injuries.

Inappropriate bradycardia in Ebola virus disease.

BACKGROUND: As part of French assistance for the outbreak of Ebola virus disease in west Africa, a military treatment center for infected healthcare workers was deployed in Conakry, Guinea. Although some cases of bradycardia have been reported since the first Ebola outbreak, they have never been documented to our knowledge. We studied heart rhythm in patients with Ebola virus disease to analyze inappropriate bradycardia and discuss its mechanism. METHODS: Nine patients who tested positive for Ebola were admitted in March 2015. Baseline clinical data were noted at admission and twice a day during follow-up, and laboratory analyses (with troponin testing) were performed. RESULTS: At admission, patients had no or moderate tachycardia (pulse = 82 ± 27 bpm). Among them, a 32-year-old midwife admitted on her fourth day of symptoms had marked bradycardia: 43 bpm. ECG showed sinus bradycardia with no conduction disturbances or repolarization anomalies; findings were similar for the three other patients with bradycardia (< 60 bpm). During follow-up, her pulse gradually increased, as it did for the other three; all four recovered. DISCUSSION: Despite several factors likely to promote tachycardia, we observed no or only moderate tachycardia in all patients with Ebola. In our study, ECG recorded sinus rhythm, without significant node dysfunction or atrioventricular block. In the absence of any evidence of myocarditis, we discuss the possibility of a central nervous system cause, associated with encephalitis. CONCLUSION: We observed relative or marked bradycardia in our patients infected with Ebola. We hypothesize that its causal mechanism was encephalitis.

[Ischemic stroke as the first manifestation of Wegener's granulomatosis]. / Une manifestation inaugurale inhabituelle de la granulomatose de Wegener : l'accident vasculaire cérébral ischémique.

The most characteristic clinical manifestations of Wegener's granulomatosis are upper and lower respiratory tract and renal involvement. The central nervous system manifestations are uncommon and occur usually late in the course of the disease. We report a 48-year-old man who presented with an ischemic stroke as the first manifestation of Wegener's granulomatosis. Wegener's granulomatosis should be considered in the differential diagnosis of ischemic stroke even in the absence of extraneurological involvement.

[Clopidogrel induced thrombotic thrombocytopenic purpura]. / Purpura thrombotique thrombocytopénique secondaire à l'utilisation du clopidogrel.

INTRODUCTION: Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disorder. Drug-induced TTP is uncommon and we report a TTP associated with the use of clopidogrel. CASE REPORT: We report a 50-year-old man who presented with acute myocardial infarction and received clopidogrel therapy. He developed acute TTP ten days after clopidogrel onset. Imputability of the drug was demonstrated during a reintroduction test. Deficiency of ADAMTS 13 was confirmed and autoantibodies against ADAMTS 13 were detected. Complete remission was obtained after 24 plasma exchange sessions and adjunction of corticosteroids. CONCLUSION: Drug-induced TTP are probably immunologic, as was demonstrated in our patient. Clinicians should be aware of this possible uncommon adverse effect of clopidogrel because prompt therapy is imperative for life saving.

[Etiology and prognosis of highly elevated C-reactive protein levels (≥500 mg/L): a retrospective study about 168 measures in a series of 113 patients]. / Profil étiologique et pronostique des valeurs extrêmes (≥500 mg/L) de protéine C-réactive : étude rétrospective de 168 valeurs chez 113 patients.

PURPOSE: The C-reactive protein (CRP) is a useful inflammatory marker with a rapid kinetics during the inflammatory process. The objective of this study was to determine the etiology and prognosis of extremely elevated CRP values greater or equal to 500 mg/L. METHODS: We performed an exhaustive retrospective study from January 2004 to July 2009, in a general hospital, of all patients with a CRP value above 500 mg/L, admitted in all clinical departments. Clinical data were collected by a single observer using a standardized questionnaire. RESULTS: One hundred and sixty-eight CRP values greater or equal to 500 mg/L were identified amongst 106,758 tests (0.16%) corresponding to 113 patients: 51% were men and their mean age was 59.5 years. Mean CRP value was 561 mg/L (500-772). An immunocompromised condition was observed in 52% of the patients. All but 13 patients presented an infectious disease. Microbiological analysis of the infected patients identified 59 Gram-positive cocci (20 Staphylococcus spp., 35 Streptococcus spp. including 21 Streptococcus pneumoniae), two Gram-negative cocci, 48 Gram-negative bacilli (including 19 Escherichia coli), three Gram-positive bacilli, 16 fungal infections, one viral infection. Site of infection was respiratory in 63%, urinary in 17% and abdominal in 16%. At day 30, mortality rate was 27% and only 41% of the patients were discharged at home. CONCLUSION: CRP value above 500 mg/L is highly related to bacterial infections, without over-representation of a given microorganism. One-month mortality is high (27%).

[Seriousness of AL amyloidosis of the digestive system]. / Gravité de l'amylose AL de localisation digestive.

Systemic amyloidosis usually does not spare the digestive tract but its involvement is rarely symptomatic. The clinical manifestations are not specific. We report a 64-year-old patient, presenting with a weight loss related to an AL amyloidosis. The amyloidosis was apparently limited to the digestive tract. We discuss the various presentations of the digestive amyloidosis and we insist on the seriousness of this localization.

[Granulomatous interstitial nephritis: A retrospective study of 44 cases]. / Granulomatoses rénales : étude rétrospective de 44 observations.

PURPOSE: Granulomatous interstitial nephritis (GIN) are identified in 0.5 to 1,3% of all renal biopsies. Renal outcome and treatment modalities are not clearly established in the literature. METHODS: We retrospectively analyzed a case series of 44 GIN identified among all renal biopsies performed between 1984 and 2005 in the Rhône-Alpes area. RESULTS: The study population included 25 men and 19 women with a mean age of 56 years, and mean diagnostic delay was 11 months. Renal function was severely impaired (mean creatinine clearance 24mL/min). Proteinuria was observed in 77% (mean value 0,9 g/24h) of the patients and associated with microscopic hematuria and leukocyturia in 30% and 25%, respectively. The most common diagnosis was sarcoidosis (25%, n = 11), followed by drug-induced GIN (9%, n = 4), tuberculosis (6,8%, n=3), hemopathy-related paraneoplastic GIN (6,8%, n = 3), HIV infection (n = 1) and chronic renal allograft rejection (n = 1). In other patients, no aetiology was found (48%, n = 21). Severity of renal failure justified hemodialysis in 34% (n = 15) of the patients. Three patients underwent renal transplantation. Nonetheless, renal outcome was generally favorable: renal function improved in 41% (n = 18) and stabilized in 34% (n = 15) of patients. CONCLUSIONS: Sarcoidosis, drug-induced and infections represent the main causes of GIN. Histologic features are not specific enough to determine the aetiology. Corticosteroids is the gold standard in sarcoidosis, drug-induced, and idiopathic GIN. Treatment is etiologic in the other cases.

[Retroperitoneal pseudotumor related to native brucellosis in France]. / Pseudotumeur rétropéritonéale : la brucellose autochtone reste d'actualité

Despite their rarity, some causes of retroperitoneal granulomatous tumor must be kept in mind. We report a 41-year-old man who presented with a right psoas mass. No spondylitis was associated. The patient had never travelled. He had never eaten foreign exotic fresh aliments. Serology and specific PCR were positive for brucellosis. The course was favorable after a percutaneous drainage and a combined antibiotic therapy (rifampin and doxycycline). Brucellosis is close to be eradicated in France. The large majority of new French cases result from accidental laboratory contamination or from a journey abroad. This case report highlights the possibility of excessively rare native brucellosis cases in France.

[Antineutrophil cytoplasmic antibody associated vasculitis: an uncommon side effect of propylthiouracil]. / Vascularite avec anticorps anticytoplasme des polynucléaires neutrophiles: une complication rare du propylthiouracile.

INTRODUCTION: Agranulocytosis or allergic skin reactions are common side effects of antithyroid drugs. Antineutrophil cytoplasmic antibody (ANCA) associated vasculitis is very uncommon. CASE REPORT: We report a 29-year-old woman treated with propylthiouracil for Graves' disease who developed a vasculitic skin involvement. ANCA with antimyeloperoxidase specificity were documented. Symptoms resolved after discontinuation of the drug. CONCLUSION: ANCA associated vasculitis is an unusual complication of propylthiouracil. Prognosis is conditioned by renal and pulmonary involvement.

[Flagellate erythema: an uncommon side effect of bleomycin]. / L'érythème flagellé: une complication rare de la bléomycine.

Bleomycin is a cytotoxic agent used in the treatment of various neoplasias. Its cutaneous adverse effects are diverse. Some of them are rare but specific. We report the case of a 40-year-old man presenting with a non-seminomatous testicular germ cell tumour who developed a flagellate erythema related to a bleomycin administration. Clinical features, histopathology and disease course are presented. This side effect is apparently neither related to the dose nor to the mode of administration of bleomycin. The etiopathogenic mechanism remains unknown.

Multivariate assessment of factors influencing illicit substance use in twins from female-female pairs.

Although familial factors have been shown to influence drug use, abuse, and dependence, little is known about the common and specific factors that influence polysubstance use and misuse. Our objective was to assess whether there are genetic and environmental factors specific to each substance or whether there are factors that predispose an individual to use of illicit substances in general. Twins from female-female pairs from the Virginia Twin Registry were interviewed by phone to assess lifetime nonmedical use of cannabis, sedatives, stimulants, cocaine, opiates, and hallucinogens. Multivariate, biometrical model-fitting was applied to the data using the Mx computer package. In the best-fitting model, use of all classes of drugs was influenced by a single general genetic factor (common to all substances) and a general familial environmental factor. The magnitude of influence of the general genetic factor ranged from 3% of the variance for opiates to 59% of the variance for cannabis. Some differences were seen from the univariate results, indicating some of the parameter estimates were unstable due to small numbers of concordant pairs. However, generalizations could be made. In women, the substances examined share genetic and familial environmental factors which contribute to the vulnerability to use. Degree of influence of the factors differs for the substances examined. However, no specific genetic or familial environmental factors were found to contribute significantly to use of any of the illicit substances.

Family characteristics of deficit and nondeficit schizophrenia in the Roscommon Family Study.

Studies of course, treatment response, biological correlates, and environmental risk factors have suggested that the deficit syndrome of schizophrenia defines a meaningful subgroup within schizophrenia. Probands from the Roscommon Family Study who met criteria for schizophrenia or simple schizophrenia were categorized into deficit (N=22) and nondeficit (N=111). Within schizophrenia, the lifetime prevalence of the deficit syndrome was 16.5%; the percentage of males was 91% compared to 63% in the nondeficit group. The first-degree relatives of deficit probands had a significantly greater social isolation than the relatives of nondeficit probands, despite significantly less severe dysphoria and psychotic-like symptoms. The risk of schizophrenia was 1.75 times greater in the families of deficit compared to nondeficit probands. There were no significant differences in the adjusted morbid risk for nonaffective psychosis, affective disorder, or alcoholism. These results provide further evidence that the deficit syndrome is a marker of a group of patients with clinical and neurobiological characteristics that distinguish them from the rest of schizophrenia. The deficit syndrome may be a useful phenotype in genetic linkage studies.

Sibling correlation of deficit syndrome in the Irish study of high-density schizophrenia families.

OBJECTIVE: The deficit syndrome is a subtype of schizophrenia characterized by primary and enduring negative features of psychopathology. It appears to reflect a distinct subtype within the syndrome of schizophrenia. Little is known about the familial or genetic aspects of the deficit syndrome. The purpose of this study was to determine whether deficit versus nondeficit subtypes are correlated in sibling pairs affected with schizophrenia. METHOD: The present study was based on the Irish Study of High-Density Schizophrenia Families. From the earlier study the authors selected a subset of patients who were members of sibling pairs in which both siblings had been diagnosed with "core" schizophrenia, which included schizophrenia, simple schizophrenia, and schizoaffective disorder with poor outcome. The Schedule for the Deficit Syndrome was used to make deficit versus nondeficit diagnoses, which were based on chart examinations by reviewers blind to sibling status. This method resulted in 65 patients being diagnosed with the deficit syndrome and 401 patients diagnosed as nondeficit (prevalence=13.9%). This group included 347 full sibling pairs, which were analyzed for resemblance with respect to deficit versus nondeficit subtype by means of logistic regression. RESULTS: Deficit versus nondeficit subtypes were significantly correlated in sibling pairs concordant for core schizophrenia. CONCLUSIONS: Familial factors contribute significantly to whether a person has the deficit subtype of schizophrenia. This familial contribution could be genetic or environmental.