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Biomedical subjects

J Stirnemann

Publications and source records attributed to J Stirnemann.

At least 19 recordsLinked to original sources
PubMed2006

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.

OBJECTIVE: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) has been associated with several mutations in the TNF receptor super family 1A (TNFRSF1A), including most cysteine substitutions. However, the nature of two substitutions, P46L and R92Q, remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of patients with TRAPS. METHODS: The main clinical data of 89 patients with TRAPS have been prospectively registered on a standard form. 84 patients or members of families with recurrent episodes of inflammatory symptoms spanning a period of more than 6 months and harbouring a TNFRSF1A mutation were studied. Clinical data have been analysed according to the nature of the mutation-P46L, R92Q or others. RESULTS: P46L is often seen in patients from Maghreb and is associated with a mild phenotype. P46L appears as a polymorphism with a non-specific role in inflammation. R92Q is associated with a variable phenotype and presents as a low-penetrance mutation. Interpreting these results will require a comparison with clinical signs and genetic background.

Adolescent↗
PubMed2006

[Clinical study of the French cohort of Gaucher disease patients].

A census is currently being carried out of the French cohort of Gaucher disease patients. This article describes its preliminary results, obtained by analysing the records of 101 patients for whom clinical and laboratory data were accessible while they were receiving enzyme therapy. At the time of diagnosis, all patients presented with splenomegaly, 70% had asthenia and one in three was already affected by major bone damage. After 1 year of enzyme therapy, splenomegaly had diminished by half and the different scores (asthenia, bone pain and abdominal pain, etc.) had markedly improved, as had the biochemical markers. As for the 6 patients affected by type 3 Gaucher disease and treated with enzyme therapy after the onset of neurological signs, a stabilisation or even some improvement of the disease was observed. In-depth study of the French cohort should make it possible to formulate consensus recommendations for the future, based on well-established data.

1-Deoxynojirimycin↗
PubMed2005

[Preeclampsia and antiphospholipid syndrome. Uterine artery Doppler evaluation].

INTRODUCTION: Women with persistently high resistance in uterine arteries have an increased risk of the subsequent development of preeclampsia. Doppler investigation provides a non-invasive method for the study of the uteroplacental blood flow. In pregnant women the antiphospholipid syndrome is associated to an increased risk of preeclampsia and complications related to uteroplacental insufficiency, and the role of uterine artery Doppler is discussed. CURRENT KNOWLEDGE AND KEY POINTS: In normal pregnancy, impedance to flow in the uterine arteries decreases with gestation, as the likely consequence of the physiologic change of spiral arteries into low-resistance vessels. In women with preeclampsia or related complications, the abnormal persistence of high resistance to flow in the uterine arteries correlates with maternal and neonatal outcome. In one study including patients with antiphospholipid syndrome, a high resistance index in the uterine arteries at 22-24 weeks gestation strongly predicted the subsequent development of preeclampsia. In another study including patients with lupus anticoagulant, persistent bilateral notches at 22-24 weeks gestation may identify preeclampsia and fetal growth restriction with a high sensitivity, specificity, positive and negative predictive value. The treatment may improve the uteroplacental blood flow and is a possible confounding factor which needs further evaluation. FUTURE PROSPECTS AND PROJECTS; In patients with antiphospholipid antibodies a higher impedance has been observed in the uterine artery, suggesting a possible vascular dysfunction precluding to impaired trophoblastic invasion and placental thrombosis, as probable mechanisms in the complications. If confirmed, these findings might have important implications for the management of these patients.

Adult↗
PubMed2005

[Systemic mastocytosis].

Systemic mastocytosis is characterized by abnormal mast cell proliferation in different organs. The 2001 consensus classification distinguishes in separate categories indolent systemic mastocytosis, systemic mastocytosis with concomitant blood disease, aggressive systemic mastocytosis and mast cell leukemia. Clinical manifestations are caused by tissue infiltration by proliferating mastocytes and by release of mediators. The principal organs affected are the skin, bones, digestive tract, liver, spleen and lymph nodes. Diagnosis of mastocytosis is based on appropriate stains (Giemsa, toluidine blue) and immunophenotype features (tryptase, CD117, also known as c-KIT and stem cell factor receptor). Serum tryptase levels reflect the total mast cell burden. Treatment must prevent release of mast cell mediators (histamine antagonists, cromolyn sodium, corticosteroids, or leukotriene-receptor inhibitors), limit bone involvement (bisphosphonates) and reduce the number of circulating mast cells (interferon, cladribine, or tyrosine kinase inhibitors). Enhanced understanding of the pathogenic mechanisms (mutation of c-kit and platelet-derived growth factor receptor alpha has led to the development of targeted treatments, including new inhibitors of tyrosine kinase and of nuclear factor Kappa B.

Benzamides↗
PubMed2004

[Reactive haemophagocytic syndrome and multiple organ failure in intensive care unit patients].

The incidence of the haemophagocytic syndrome in the ICU patients with multiple organ failure seems to be high. The haemophagocytic syndrome can be considered as the consequence of the initial aggression leading to multiple organ failure. On the contrary the haemophagocytic syndrome could be the cause of multiple organ failure. A case of haemophagocytic syndrome is presented which led to rapidly fatal multiple organ failure.

Critical Care↗
PubMed2004

[Micronutrients status of Ile-de-France inhabitants. A literature review].

PURPOSE: A review of the literature about micronutrients status of Ile-de-France inhabitants. CURRENT KNOWLEDGE AND KEY POINTS: During the last decades, substantial changes in the French diet had an impact on micronutrients intake. Over this time, several studies conducted in Ile-de-France showed that a large part of its inhabitants is subject to an increased risk of mild to severe deficiency in one or more micronutrient(s). Teenagers and subjects over 70 years-old are groups at risk for vitamin D deficiency. During the 1980s, iron intake was insufficient in a majority of menstruating women and iron deficiency was common during pregnancy. Vitamin C deficiency is constantly present in homeless people and often associated with an insufficient intake in a number of micronutrients. FUTURE PROSPECTS AND PROJECTS: Identification of the groups at risk favours a better adequacy of preventive action on micronutrient deficiencies in this population. However, the efficacy of prevention is to be determined. Controlled trials of micronutrients' supplementation may be useful to value the beneficial effects of micronutrient supplementation on the incidence of cardiovascular diseases and cancer.

Adolescent↗
PubMed2004

[Acquired C1 inhibitor deficiency associated with lymphoproliferative disorders: four cases].

INTRODUCTION: Acquired C1 inhibitor deficiency is sometimes associated with lymphoproliferative disorders. EXEGESIS: We report four cases of acquired C1 inhibitor deficiency in association with lymphoproliferative disorders. Three of them were asymptomatic; one was associated with abdominal pain. Four women (median age, 66 years) presented either two non-Hodgkin lymphoma or two chronic lymphocytic leukaemia. C1 inhibitor deficiency was detected fortuitous (n = 1) or during investigation of arthralgia (n = 2), or Gougerot-Sjogren syndrome (n = 1). The deficit was acquired in all cases type I. Auto-immune disorders were associated with: Gougerot-Sjogren syndrome (n = 1), cryoglobulinemia (n = 2), IgM lambda monoclonal gammopathy (n = 1), Coombs positive test (n = 2), IgG anti-cardiolipine antibodies (n = 1). C1 inhibitor deficiency was not modified after lymphoproliferative disorders treatment (radiotherapy, splenic ablation) in two cases but patients were not in complete remission. C1 inhibitor raised normal level in one case, after five chemotherapy regimens, but decreased complement level and C4 split persist. CONCLUSION: Acquired C1 inhibitor deficiency associated with lymphoproliferative disorders is sometimes asymptomatic. Diagnosis could be delay in spite of clinical manifestations. Deficit correction is not constant after lymphoproliferative disorders treatment.

Aged↗
PubMed2003

[Compression of the spinal cord revealing a seronegative rheumatoid arthritis].

INTRODUCTION: Craniocervical junction damages may result in a compression of the spinal cord. They may be caused by infectious, tumoral or inflammatory processes. Rheumatoid arthritis is probably among rheumatic diseases the most frequent cause of atlantoaxial arthritis. Nevertheless involvement of the craniocervical junction as the presenting symptom of rheumatoid arthritis is a very rare feature. EXEGESIS: We report the case of a 61 years old woman who presented with atlantoaxial involvement and spinal cord compression one year before the diagnosis of a seronegative rheumatoid arthritis. CONCLUSION: Symptomatic craniocervical junction damages may appear. Patients with damages of the craniocervical junction and negative investigations should be followed long-term; an underlying inflammatory disease may become evident after significant delay.

Arthritis, Rheumatoid↗
PubMed2003

Hyperthyroidism in two patients with Crohn disease and Takayasu arteritis.

Thyroid abnormalities and Takayasu arteritis (TA) have been reported separately in patients with Crohn disease (CD). We report two patients with hyperthyroidism, CD and Takayasu arteritis and discuss hypothetical mechanisms. Case 1. A thyrotoxic goiter was diagnosed in 1987 in a 34-year-old woman treated since 1969 for severe CD and TA. Iodine urinary excretion was 405 microg/mL (20-500). Anti-thyrotropin receptor (TRAK) and anti-thyroid antibodies were not detectable. The ultrasonography showed a nodule in the right lobe of the thyroid and two nodules in the left lobe. A 123I thyroid scan showed a multinodular goiter with no hot nodule. She was treated successfully with propylthiouracile until 1991, when a new episode of thyrotoxicosis led to a subtotal thyroidectomy. Case 2. Hyperthyroidism was diagnosed in February 2000 in a 49-year-old woman treated for CD and TA, both diagnosed in 1980. TRAK and anti-thyroid peroxydase antibodies were not detectable. The ultrasonography disclosed a normal thyroid volume with an inhomogeneous parenchymal structure and nodular images in both lobes. A 123I thyroid scan showed one hot nodule in the lower part of each lobe. A subtotal thyroidectomy was performed. The association of these three diseases may not be fortuitous, possibly explained by genetic predisposing factors and disease-related iodine deficiency both involving Nuclear Factor kappaB pathway.

Adult↗
PubMed2002

[Neonatal cutaneous lupus. Necessary interdisciplinary collaboration].

INTRODUCTION: Neonatal lupus erythematosus is a rare syndrome (affecting 5% of the children born of mothers with lupus), characterized essentially by cutaneous lesions and/or congenital auricular-ventricular heart block. It is due to the transplacental passage of maternal antibodies (anti-SSA or anti-SSB, or occasionally anti-U1RNP antibodies) into the fetal circulation. OBSERVATION: We report a case of neonatal lupus erythematosus, having appeared 4 weeks after birth. The 26 years old mother exhibited systemic lupus erythematosus concomitant to Gougerot-Sjögren's syndrome, with positive antinuclear factors (1/2560), native anti-DNA, anti-SSA and anti-SSB antibodies and anticardiolipin antibodies. During pregnancy, the mother had been treated with aspirin at the dose of 100 mg/day, followed by subcutaneous enoxaparin 0.4 ml/day, and combined with prednisone 10 mg/d and hydroxychloroquine 400 mg/day. Early and regular cardiac monitoring of the foetus was performed. The clinical examination and the electrocardiogram at birth were normal. Four weeks later, the infant presented with erythematous cutaneous lesions with atrophic center. No systemic treatment was initiated and the lesions partially regressed. CONCLUSION: Cutaneous lesions can also appear after the 4th week of life. It is important that the pediatricians clinically monitor all the children born to mothers exhibiting anti-SSA or anti-SSB antibodies, at least during the first 7 months of life.

Adult↗
PubMed2002

[Taste disorders].

PURPOSE: This review focuses on the present state of the question about taste disorders with reference to their associated factors, diagnostic methods, and potential effects. CURRENT KNOWLEDGE AND KEY POINTS: Taste disorders may be induced by many drugs and are associated to a number of acute or chronic diseases. Patients may be asked about their taste complaints, and taste thresholds may be determined by electrogustometry or chemical gustometry. Taste impairment may provide a good indicator to the course of some diseases such as diabetes mellitus in which hypogeusia predicts occurrence of degenerative complications. Dysgeusia may induce nutritional disorders and contribute to wasting in chronic liver disease, cancer, or human immunodeficiency virus infected patients. Mechanisms involved in dysgeusia are more than one in a patient. Taste disturbance may be secondary to a variety of causes that include zinc deficiency, lesions of the lingual epithelium, neurological impairment, and a pharmacological effect. FUTURE PROSPECTS AND PROJECTS: A better understanding of the transduction mechanisms of the gustatory signal and the main pathogenic factors involved in dysgeusia may possibly improve the follow-up of the concerned patients notably in terms of nutritional status.

Acute Disease↗
PubMed2002

[Ovarian vein thrombophlebitis and post-partum fever].

INTRODUCTION: Ovarian vein thrombophlebitis (OVT) is a rare but potentially threatening complication of the postpartum period. Diagnosing it may be of some difficulty especially in case of symptoms mimicking appendicitis or pyelonephritis. EXEGESIS: We report 2 patients with postpartum right OVT. The clinical presentation included high grade fever, and pain, lumbar in one case, of the right flank in the other. Pulmonary embolism complicated both cases. CONCLUSION: Diagnostic and therapeutic management of OVT was transformed by progresses in medical imaging during the 1980's. However, optimal duration of anticoagulant treatment and secondary prevention indications have to be determined.

Adult↗
PubMed2002

[Peritoneal tuberculosis: 27 cases in the suburbs of northeastern Paris].

SETTING: Peritoneal tuberculosis did not disappear from France during the 1990s. OBJECTIVE: To determine the characteristics of peritoneal tuberculosis in the north-eastern suburbs of Paris. METHOD: A retrospective study of cases diagnosed with peritoneal tuberculosis between 1990 and 1998 in five suburban hospitals in the north-east region of Paris. RESULTS: Twenty-seven cases of adult peritoneal tuberculosis were diagnosed. There were nine women and 18 men, with a mean age of 37.5 years, 88.9% of whom were foreign born. General and digestive symptoms--abdominal pain and/or ascites--were present in 96.3% of the cases. The mean delay in treatment was 30 days. Peritoneal involvement was isolated in 25.9% of cases, and associated with pulmonary tuberculosis in 40.7% or hepatic tuberculosis in 25.9%. Co-infection with HIV (human immunodeficiency virus) was present 14.8% of cases. Culture of ascites fluid, laparoscopy and/or laparotomy (n = 17), with directed biopsy, aided in the formal diagnosis of peritoneal tuberculosis in 59.2%. One relapse and one case of multiresistance were observed. The mean duration of treatment was 9 months (range 6-12 months). Three patients received treatment with corticosteroids, and 91.2% of the patients achieved cure without sequelae. CONCLUSION: Peritoneal tuberculosis is not rare in the Paris region. The diagnosis should be suspected in case with ascites and fever, and can be confirmed by laparoscopy with sampling for bacteriology and histology. The methods of treatment need to be standardised.

Abdominal Pain↗