[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists]. / Parcours diagnostique des patients atteints de maladie de Gaucher de type 1 : enquête auprès de médecins internistes et hématologues.

INTRODUCTION: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. METHODS: A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011. RESULTS: Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician. CONCLUSION: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.

Measurement of interatrial dyssynchrony using tissue Doppler imaging predicts functional capacity and cardiac involvement in systemic sclerosis.

OBJECTIVES: We aimed to assess the prevalence of interatrial electromechanical dyssynchrony in systemic sclerosis (SSc) patients, and to study the correlation between interatrial delay and standard follow-up parameters. METHODS: Forty consecutive patients with SSc were studied. Classical echocardiographic measurements were obtained, including indices of left ventricular (LV) systolic and diastolic function, right ventricular function, and pulmonary artery pressure (PAP). Left atrial (LA) function was studied using volume measurements. The interatrial mechanical (IAMD) delay was obtained by measuring the time delay between the peak atrial velocities at the lateral tricuspid and mitral annuli using tissue Doppler imaging. A cut-off value of 35 ms was chosen to define the presence of a significant interatrial delay. The IAMD was compared to NYHA class, six-minute walking test (6MWT), NT proBNP levels, and the carbon monoxide diffusion capacity over alveolar volume ratio (DLCO/VA), as well as to classical echocardiographic parameters. RESULTS: Forty percent of patients were found to have significant interatrial dyssynchrony with an IAMD of 35 ms or more. Patients with interatrial dyssynchrony were more symptomatic, had a shorter 6MWT, higher NT proBNP levels, and a lower DLCO/VA compared with those without dyssynchrony. Regarding conventional echocardiographic parameters, increased IAMD was associated with more pronounced LV diastolic dysfunction, LA enlargement and dysfunction, altered RV function, and higher PAP. CONCLUSIONS: IAMD correlated with all of the standard follow-up parameters in SSc, and is probably a sensitive marker of LA involvement. This easy to measure parameter should be added to the routine echocardiographic assessment of these patients.

Severe cardiomyopathy revealing antineutrophil cytoplasmic antibodies-negative eosinophilic granulomatosis with polyangiitis.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare form of systemic vasculitis in which cardiac involvement is frequent and severe, and accounts for half of EGPA-related deaths. ANCA-positive EGPA differs from ANCA-negative EGPA in that the former is significantly associated with renal involvement, peripheral neuropathy and biopsy proven vasculitis, whereas the latter is associated with cardiac involvement. Herein, we report a case of EGPA with myocarditis in a woman, who was successfully treated with steroids and cyclophosphamide. This report highlights the importance of diagnosing cardiac involvement in EGPA early, especially in ANCA-negative patients.

Haemolytic-uraemic syndrome during severe lupus nephritis: efficacy of plasma exchange.

Systemic lupus erythematosus (SLE) has been described as a cause of thrombotic microangiopathy, especially thrombotic thrombocytopenic purpura (TTP). Haemolytic-uraemic syndrome (HUS) is less frequent in SLE. We report a case of such an association during an episode of severe lupus nephritis in a young woman, who was successfully treated with steroids, cyclophosphamide and especially plasma exchange with plasma replacement. This report highlights the importance of recognising atypical HUS in SLE patients by looking for schistocytes in case of haemolytic anemia with a negative antiglobulin test, in order to begin plasma exchange.

Heart involvement in Churg-Strauss syndrome: retrospective study in French Burgundy population in past 10 years.

INTRODUCTION: Heart manifestations of Churg-Strauss syndrome (CSS) are varied. In the early stages of the disease, it is difficult to distinguish between lesions that are specific to CSS and those of other etiologies. The aim of our work was to compare the characteristics of patients with heart manifestations linked or not to Churg-Strauss syndrome. MATERIAL AND METHODS: We recorded all clinical symptoms of patients with CSS hospitalized between 1998 and 2008 in Burgundy, France, and determined the possible relationships between heart symptoms and CSS. RESULTS: From a cohort of 31 patients, we found 20 with heart lesions. When heart lesions were present, we noted fewer initial symptoms of digestive disorders (p<0.05), lower levels of lung infiltrates and fewer anti-MPO pANCA (p<0.05). Heart lesions were linked to CSS in 75% of cases. Their patients were thus younger than those in the other cardiac patients (p<0.05), were more likely to have clinical manifestations of heart involvement at diagnosis, were less likely to have lung infiltrates on the X-ray at diagnosis and during flare-ups and less likely to have lung abnormalities on X-rays during flare-ups (p<0.05) and higher level of leucocytes and eosinophils at diagnosis. CONCLUSION: Heart lesions directly attributable to CSS are frequent, severe and probably underestimated. A specific physiopathology that is not mediated by ANCA seems to be involved in the genesis of CSS-related heart lesions.

[Excessive sweating related to hydromorphone]. / Sueurs profuses invalidantes sous hydromorphone.

Diffuse and abundant sweating in a middle age patient evolving for several weeks should raise suspicion of malignant lymphoma and infectious or neuroendocrine disorders before considering a drug origin. We report a patient who presented with severe and invalidating excessive sweating related to hydromorphone therapy for vertebral pain. Amongst their many reported side-effects, excessive sweating disappearing with discontinuation of the drug have been reported with some opiates.

Increase of CD4+ CD25+ regulatory T cells in the peripheral blood of patients with metastatic carcinoma: a Phase I clinical trial using cyclophosphamide and immunotherapy to eliminate CD4+ CD25+ T lymphocytes.

We determined the number and functional status of CD4+ CD25(high) regulatory T cells (Treg) in blood samples from patients with metastatic carcinoma, and evaluated their sensitivity to a single intravenous infusion of cyclophosphamide. Treg numbers were significantly higher in 49 patients with metastatic cancer (9.2% of CD4+ T cells) compared to 24 healthy donors (7.1%). These cells expressed the transcription factor forkhead box P3 (FoxP3), glucocorticoid-induced tumour necrosis factor receptor family-related protein (GITR) and intracellular CD152, and demonstrated a suppressive activity in vitro against CD4+ CD25- autologous proliferation. At a single intravenous infusion, cyclophosphamide failed, in association with a non-specific immunotherapy by intratumoral bacille Calmette-Guérin (BCG), to modulate significantly Treg numbers or function. Metastatic cancer is associated with an expansion of peripheral blood CD4+ CD25(high) FoxP3+ GITR+ CD152+ Treg cells whose immunosuppressive properties do not differ from those of healthy subjects. Moreover, cyclophosphamide administration may not represent an optimal therapy to eliminate Treg, which further underlines the need to identify specific agents that would selectively deplete these cells.

[Case-control study evaluating the incidence of hyperhomocysteinemia in cancer patients in an internal medicine department]. / Etude cas témoin évaluant l'incidence de l'hyperhomocystéinémie chez des patients porteurs de néoplasie dans un service de médecine interne.

PURPOSE: Cancer is a cause of venous thromboembolism. However, the physiopathology remains unknown. Hyperhomocysteinemia could be a promoting factor. METHOD: We built a case-control study of 65 patients followed for 2 years to compare levels of homocystéinémie in cancer bearing patients with that in matched cancer free control patients. RESULTS: Fifty per cent of cancer bearing patients had significantly increased blood serum levels of homocystéine (P=0.006). This increase did not correlate with any deficiency in blood serum levels of folate or vitamin B12. CONCLUSION: High levels of homocystéinémie could be linked to tumor proliferation.

[Pyogenic psoas abscess: six cases and review of the literature]. / Les abcès pyogènes secondaires du psoas: à propos de six cas et revue de la littérature.

PURPOSE: Psoas abscess is a rare disease in developed countries. Its diagnosis is difficult and any delay could lead to a worsen prognosis. The aim of this study is to determine the best diagnostic and therapeutic practices. METHODS: A retrospective study of psoas abscess that occurred during six months was performed. RESULTS: Six cases of secondary psoas abscess are reported. They were associated with spondylodiscitis in three cases, arthritis and gynaecologic infection in the three remaining cases. Anatomic diagnosis was performed by tomodensitometry. Microbiologic diagnosis was obtained by blood culture or direct puncture of the abscess. Antibiotics were associated with percutaneous drainage in two cases, with simple puncture in one case, and with surgery in one case. A local improvement w observed in all cases. The oldest patients presented the worst complications which were not directly caused by the abscess. CONCLUSION: Physicians must be aware of psoas abscess because of their increasing incidence. Despite the fact that digestive pathologies are the main cause of secondary psoas abscess, bone infections, particularly spine infections, should be taken into consideration. Tomodensitometry guided puncture or percutaneous drainage are of diagnostic and therapeutic interest. Infectious samples must be taken before starting antibiotics, which have to be efficient against Gram negative bacillus, anaerobes and Staphylococcus aureus. Surgery must be quickly performed when the primary infection localisation need it, in case of voluminous abscess or when antibiotics and drainage are inefficient.

[Acute nonalcoholic nonbiliary pancreatitis. Difficulties in diagnosis and possibility of nicotine toxicity]. / Pancréatite aiguë non alcoolique non biliaire. Difficultés du diagnostic etiologique et toxicité possible de la nicotine.

INTRODUCTION: The possibility of nicotine toxicity, although rare, should be considered in cases of acute edematous pancreatitis. CASE: A 30-year-old woman was hospitalized to identify the cause of an initial episode of acute edematous pancreatitis. The observation of native anti-DNA and antiphospholipid antibodies suggested lupus pancreatitis and/or an antiphospholipid syndrome, both subsequently ruled out. The final diagnosis was nicotine poisoning induced by the combination of a nicotine patch and tobacco smoking. CONCLUSION: Although a nicotine patch has never been reported in connection with an episode of acute pancreatitis before, this case suggests that such an event might be a rare complication of an overdose of nicotine.

[Elevation of serum lactate dehydrogenase. Diagnostic, prognostic and evolutive values]. / Elévation des lactates-déshydrogénases sériques. Valeur diagnostique, pronostique et évolutive.

OBJECTIVE: Determination of serum lactate dehydrogenase (LDH) levels is an usual practice. However, its place in the diagnosis process is not clear. We have collected serum LDH levels superior to 2-fold the normal rate and we tried to determine their diagnostics interest and, predictive and progressive values. METHODS: Retrospective study during 3 months in hospitalized adults. LDH levels were measured by spectrophotometry (Normal rate: 313-618 UI/L). RESULTS: 196 cases with LDH level elevations higher than 1236 UI/L were analyzed. The etiology of LDH level elevations were was benign in 60% of cases, malignant in 36% and, undetermined in 5%. There was no difference in between average values of LDH level average values of benign and malignant etiology (2708 vs 2842 UI/l). LDH rates and high LDH level elevations were not helpful for in the diagnosis process (a variety of 43 etiology was able to elevate increased LDH rates). In 45% cases, LDH level was 2 to 3-fold the normal rate; in 47.5% cases, 3 to 10-fold normal rate, and in 7.5% cases, superior to 10-fold normal rate. LDH elevations superior to 10-fold the normal rate were caused by benign etiology in 11 cases and malignant disease in 4 cases. A level superior to 10-fold the normal rate was not helpful in determining to determine the benign or malignant characteristics of the initial disease. However, LDH rate superior to 10 normal rate was a pejorative predictive criteria (hospitalization in intensive careunity in 73% of cases and mortality rate of 53%). During follow up of a neoplasia or malignant hemopathy follow up, several LDH measurements LDH level determinations were determined in for a small number of patients. LDH level normalizations is are attributable to efficientan effective treatment; LDH level elevations are associated with a therapeutic failure echappment. Evolution in LDH levels evolution was influenced by progression in neoplasia and malignant hemopathy evolution and also by various several treatments such as like blood transfusions, growth factors, radiotherapy and chemotherapy. CONCLUSION: LDH level elevation, however whatever its rate, don't seem to do not help in differentiating have interest to differentiate benign from malignant diseases. However, an elevation LDH elevation higher than 10-fold the normal rate is a pejorative predictive criteria, since because the mortality rate is superior toupper than 50%. During follow-up of in the neoplasia and malignant hemopathy follow up, so long as they are measured at distance from treatment, variations in LDH levels are a good marker of evolution, rate variations represent an evolutive marker conditionally the level determination would be realize remote several treatment.

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes. Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.

Rheumatic disorders developed after hepatitis B vaccination.

OBJECTIVE: To obtain an overview of rheumatic disorders occurring after hepatitis B vaccination. METHODS: A questionnaire was sent to rheumatology departments in nine French hospitals. Criteria for entry were rheumatic complaints of 1 week's duration or more, occurrence during the 2 months following hepatitis B vaccination, no previously diagnosed rheumatic disease and no other explanation for the complaints. RESULTS: Twenty-two patients were included. The observed disorders were as follows: rheumatoid arthritis for six patients; exacerbation of a previously non-diagnosed systemic lupus erythematosus for two; post-vaccinal arthritis for five; polyarthralgia-myalgia for four; suspected or biopsy-proved vasculitis for three; miscellaneous for two. CONCLUSIONS: Hepatitis B vaccine might be followed by various rheumatic conditions and might trigger the onset of underlying inflammatory or autoimmune rheumatic diseases. However, a causal relationship between hepatitis B vaccination and the observed rheumatic manifestations cannot be easily established. Further epidemiological studies are needed to establish whether hepatitis B vaccination is associated or not with an incidence of rheumatic disorders higher than normal.

[Eosinophilic ascites and urticaria]. / Ascite à éosinophiles et urticaire.

INTRODUCTION: The finding of eosinophilic ascites is unusual. It requires the search for the main etiology, i.e., parasitic or malignant disease, vasculitis or hypereosinophilic syndrome. The diagnosis of exclusion is either mucosal, muscular or serous eosinophilic gastroenteritis. This last type, the most unusual--as less than 50 cases have been documented until now--is associated with eosinophilic ascites. EXEGESIS: We report a new case of serous eosinophilic gastroenteritis that occurred in a 23-year-old woman. This case was unusual because of its clinical history, as abdominal pain fits (along with the occurrence of ascites) were associated with urticaria fits. The lack of eosinophils in both the blood counts and the various digestive biopsies were unusual too. The disease evolution was favorable with corticosteroid therapy; however, a minimal dose of 8 mg/day was necessary to control the disease symptoms. CONCLUSION: Because of its association with urticaria fits, this case emphasizes the need for differential diagnosis in patients with hypereosinophilic syndrome and food allergy.

Retroperitoneal fibrosis and infection of an aortic graft prosthesis: diagnosis and therapeutic problems.

The occurrence of a retroperitoneal fibrosis (RPF) after an aorto-bifemoral bypass is unusual. A case of RPF as a complication of an infection of the graft prosthesis is reported. Computed tomography and magnetic resonance imaging prove useful in diagnosing graft infection: they may reveal periprosthetic gas or perigraft fluid persisting for several months after surgery. However, they may fail when they are performed too early, and repeat performance is suggested.

[Perforation of colonic diverticulum under corticoids: a complication to be known and recognized]. / Perforation de diverticule colique sous corticoïdes: une complication à connaître et à reconnaître.

Glucocorticoids can produce acute perforation of colonic diverticula and peritoneal infection. We report two observations in which patients presented a peritoneal collection with no specific clinical signs. The diagnosis was considered after C-T scan or ultrasans. Residues of contrast liquid, after an earlier X-ray exploration, have made the diagnosis of diverticula easier. In one case, corticosteroids were started as a short cure for the treatment of a myeloma. In the other case, patient received a long term corticosteroid therapy at low dose for an asthmatic disease. The perforation was induced by an increased dosage. Diverticular perforations result from inhibition of synthesis of prostaglandins who have the beneficial property of "cytoprotection" and from the immunosuppressive action of glucocorticoids which favour the diffusion of the peritoneal infection. diffusion of the peritoneal infection.

Primary hyperparathyroidism in very old patients.

OBJECTIVES: To evaluate the clinical presentation and biological features of primary hyperparathyroidism (pHPT) in very old subjects. METHODS: Thirty patients aged 75 years or more, with pHPT were analyzed retrospectively. The diagnosis of pHPT was based on usual biological signs and was always confirmed by the finding of morphological abnormalities with parathyroid imaging or neck surgical exploration. RESULTS: At initial examination, recent general symptoms and neuromuscular symptoms were observed in 87% and 83% of the cases, respectively. Neuropsychiatric manifestations were noted in 73% of the cases. Confusion and depression were the most frequent findings, observed in 30% and 27% of the cases, respectively. In one of two patients with dementia like state, the mental status improved dramatically after surgery of the parathyroid adenoma. Serum calcium levels were in the normal range in 13% of the cases and equal or below 110 mg/L in 47% of the cases. There was no correlation between serum calcium level and the severity of mental changes. Serum parathyroid hormone determinations were abnormal in 93% of the patients. Thirteen patients underwent surgery with biological improvement in all cases. An ultrasonically guided percutaneous ethanol injection of parathyroid adenoma was performed in 10 patients with a biological cure rate of 50%. CONCLUSION: This study shows the major prevalence and potential severity of neuropsychiatric disorders in pHPT in very old patients. Because neuropsychiatric disturbances can respond favourably to surgical treatment, the clinician must systematically look for pHPT in elderly patients with cognitive impairment.