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O Heinzlef

Publications and source records attributed to O Heinzlef.

At least 19 recordsLinked to original sources

[Livedo-like dermatitis (Nicolau's syndrome) after injection of Copolymer-1 (Glatiramer acetate)].

We report the first case of a 33-year-old woman with multiple sclerosis, who developed a livedo-like dermatitis after injection of Copolymere-1. This disease is characterized by the development of acute violent pain during or immediately after injection, and a livedo-like plaque followed by necrosis corresponding to an arterial ischemia by vasospasm or thrombosis. Early treatment with vasoactive and anticoagulation agents is required. Surgery may be necessary.

Acute Disease↗

Anticardiolipin antibodies in patients with multiple sclerosis do not represent a subgroup of patients according to clinical, familial, and biological characteristics.

BACKGROUND: In multiple sclerosis (MS), case control studies have shown that anticardiolipin antibodies (aCL Ab) are more frequent than in the general population and that aCL Ab positivity may be associated with specific clinical characteristics. OBJECTIVES: To determine whether patients with MS who are positive for aCL Ab have specific characteristics. METHODS: 285 consecutive patients with MS were tested for aCL Ab positivity. Patients also underwent complete autoimmune screening and were systematically evaluated for clinical characteristics and individual or family history of autoimmune disease. RESULTS: aCL Ab positivity was found in 42 patients (15%). The main isotype was aCL IgM (32 patients, 11%). Demographics and clinical characteristics including sex, age at onset, course of the disease, expanded disability status scale score, and progression index were not different between aCL Ab positive and aCL Ab negative patients. Clinical systems involved at onset or during the course of the disease were not different from what is usually observed in MS. aCL Ab positivity was not associated with an increased frequency of autoimmune disease and was not predictive of a family history of autoimmune disease. Patients positive for aCL IgM were more frequently positive for the presence of non-organ specific antibodies (53% v 39%, respectively, p = 0.02). CONCLUSIONS: These results do not support the hypothesis that patients with MS with aCL Ab constitute a subgroup of MS according to demographic clinical and familial characteristics. The greater frequency of other antibodies in aCL Ab positive patients suggests that they only reflect a more general autoimmune activation in MS.

Adult↗

MS and neuromyelitis optica in Martinique (French West Indies).

BACKGROUND AND OBJECTIVE: A population-based study is reported of MS in French Afro-Caribbeans (FAC) in Martinique. FAC are descendants of interracial mating that occurred between French Caucasians and black Africans in the 17th and the 18th centuries. METHODS: The authors surveyed the entire island of Martinique (area 1,128 km(2), population 357,000) between November 1997 and October 1999. RESULTS: Sixty-two patients (46 females, 16 males, ratio 2.9:1) were identified with definite or probable disease by the Poser criteria. Prevalence for all patients on December 31, 1998, was 17.4/10(5) (95% CI 13.1 to 21.7) and 14.3/10(5) (95% CI 10.4 to 18.2) for clinically definite cases (n = 51). Age range of patients on prevalence day was 17 to 73 years (mean +/- SD 39 +/- 11.3 years). Mean age at onset was 31.2 +/- 11 years. Overall, 9.7% had primary progressive disease and 19.4% had benign MS. A low proportion of definite and probable MS cases had oligoclonal bands in CSF (50.9%). Seventeen patients, 13 of whom were alive on prevalence day, had a relapsing form of neuromyelitis optica. CONCLUSION: The island of Martinique appears to have a low to medium prevalence of MS. MS was almost unknown in FAC in Martinique until the late 1970s. The apparent recent increase may be explained by improved recognition of patients, increased availability of MRI for diagnosis, increased disease awareness among physicians, increased survival of MS patients, or an actual increase in disease frequency.

Adolescent↗

Recurrent stroke and vascular events in elderly patients with anticardiolipin antibodies: a prospective study.

The presence of anticardiolipin antibodies (aCL) is a recognized risk factor for ischaemic stroke and a predictor of recurrent ischaemic events in young patients, but the significance of positive aCL tests is uncertain in the elderly. We evaluated the frequency of aCL and the risk of recurrence of stroke and other vascular events in a series of 242 consecutive patients aged over 60 years, admitted for brain infarction. All underwent aCL immunoreactivity (ELISA; measured by IgG antiphospholipid, GPL, units) and transoesophageal echocardiography and were later examined or contacted by telephone (mean 2.33 +/- 1.25 years, max. 4). Fifty patients (21 %) had at least l0 GPL units aCL. There were no differences between these and the other patients in the results of transoesophageal echocardiography, including mitral or aortic valvular thickening, atrial thrombus, atrial spontaneous contrast, strands, and aortic plaques thickness. None had IgG higher than 80 GPL units or was positive for anti-beta2 glycoprotein I. Patients with at least 10 GPL units more often had a past history of cerebral infarction than patients lower aCL level. However, the incidence of recurrent stroke was 4.5 per 100 person-year in patients with more than 10 GPL units, and 2.7 per 100 person-year in those with more than 10 GPL units. Kaplan-Meier analysis for any vascular events showed no differences between the two groups. In contrast to young patients, elderly patients with 10 or more GPL units aCL and negative for anti-beta2 glycoprotein I do not seem to have a higher risk of vascular events.

Aged↗

[Atherosclerotic aortic plaques and risk of embolic stroke].

There is mounting evidence to implicate complex atherosclerotic aortic plaques as a significant independent risk factor for embolic stroke. Ulcerated plaques at autopsy, plaques thicker than 4 to 5mm at transesophageal echocardiography and those with mobile components are more likely to be associated with stroke. Mobile thrombus in the lumen may be a source of cerebral emboli. Among patients with ischemic stroke, those with plaques thicker than 4mm in the aortic arch have the highest risk of recurrent stroke, myocardial infarction, other vascular event including vascular death. However, since no randomized trials have been conducted to evaluate the role of any antithrombotic therapies in patients with aortic atheroma, no recommendation can be made regarding the best treatment strategies. Antiplatelet agents, oral anticoagulant, thrombolytic therapy, and elective surgical endarterectomy or graft replacement are all reasonable options that have been proposed and that must be evaluated in term of benefit/risks ratio in specific randomized controlled trials. Meanwhile, antiplatelet agents and aggressive risk factor management appear to be the first line treatment. No recommendation can be made to use oral anticoagulation in these patients nor for a target INR. Concerns also exist on the possibility of anticoagulation driven cholesterol embolism in these patients.

Aorta, Thoracic↗

Multiple sclerosis and antecedent infections: a case-control study.

OBJECTIVES: To determine whether there is an excess of respiratory tract infections in the 5-week, 3-month, and 12-month periods before MS symptom onset and if there is an association between MS and a history of infectious mononucleosis (IM). BACKGROUND: The etiology of MS remains unknown, but infection is frequently suggested as a putative etiologic agent. Epidemiologic studies have produced inconsistent evidence for an etiologic role of respiratory tract infections (RTI) and IM in MS. METHODS: The authors performed a case-control study using the General Practice Research Database from the United Kingdom. There were 225 subjects with definite or probable MS, and 900 controls matched for age, sex, and physician practice. Using computerized patient records, the authors compared the mean rates of RTI per patient in the 5-week, 3-month, and 12-month periods before the date of onset of the first symptoms compatible with MS (index date). They also compared histories of IM. RESULTS: In all periods, an increased frequency of RTI was associated with a significantly increased risk of MS. A history of IM was associated with greater than five times the risk of MS (OR = 5.5 [95% CI 1.5 to 19.7]). CONCLUSIONS: These results support an association between a history of IM and subsequent MS. Respiratory tract infections may precipitate disease onset.

Adult↗

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive spasticity of the lower limbs. Five AD-HSP loci have been mapped to chromosomes 14q, 2p, 15q, 8q and 12q. The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein, has recently been identified. Here, sequence analysis of the 17 exons of SPG4 in 87 unrelated AD-HSP patients has resulted in the detection of 34 novel mutations. These SPG4 mutations are scattered along the coding region of the gene and include all types of DNA modification including missense (28%), nonsense (15%) and splice site point (26.5%) mutations as well as deletions (23%) and insertions (7.5%). The clinical analysis of the 238 mutation carriers revealed a high proportion of both asymptomatic carriers (14/238) and patients unaware of symptoms (45/238), and permitted the redefinition of this frequent form of AD-HSP.

Adenosine Triphosphatases↗

Autoimmune diseases in families of French patients with multiple sclerosis.

Multiple sclerosis (MS) is associated with autoimmune disorders (AIDs) in individual patients, and limited data suggest a possible familial association of MS and AIDs; however, no systematic study has been conducted on the occurrence of AIDs in the families of MS patients. Using a standardized interview focused on AIDs, we obtained the family histories of 357 consecutive patients from our MS clinic. Adequate information was obtained on 1971 first-degree relatives. Fifty-five patients (15.4%) had first-degree relatives with MS (n=22, 6.2%) another AID (n = 30, 8.4%), or both (n = 3, 0.8%). In 16 families (4.5%), at least 3 first-degree relatives had MS or another AID. MS, Grave's disease, rheumatoid arthritis, vitiligo, type 1 insulin-dependent diabetes mellitus, and uveitis, were the most common AIDs in these families. Such multiplex families (families with MS plus AID) are appropriate for identifying susceptibility genes that may be common to MS and other AIDs.

Adult↗

[Familial multiple sclerosis: study of 357 consecutive patients].

The empiric recurrence risk of multiple sclerosis (MS) of relatives of French MS patients is not known. Using a standardized interview, we collected the family histones of 357 consecutive patients followed at our MS clinic; adequate information was obtained on 4784 relatives up to the third degree. Thirty-five patients (9.8%) had a relative with MS. The risk-curve for relatives was the same as in other studies conducted with a similar methodology in Canada. England and Flanders. but the crude overall MS recurrence risk for relatives was lower in France. The genetic burden of MS may be lower in France than in areas of higher MS prevalence.

Adult↗

[Towards a reliable prognosis for multiple sclerosis].

Although the general course of multiple sclerosis is well known from natural history studies, the determination of a detailed prognosis in a given individual is almost an insurmountable task. Cerebral magnetic resonance imaging is the best predictor of conversion to definite multiple sclerosis after a first demyelinating event. The main factors indicative of long-term bad prognosis are: onset after the age of 40, initial pyramidal or cerebellar signs, high relapse rate during the first two years, and onset of the progressive phase. Altogether, up to 20% of patients have a benign course.

Age of Onset↗

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.

Adult↗

Severe neuropathy after high dose carboplatin in three patients receiving multidrug chemotherapy.

Three patients are described who developed a severe neuropathy after chemotherapy with high dose cis-diamine-(1,1-cyclobutane dicarboxylato) platinum (carboplatin). This toxic side effect, which is unusual at conventional doses, might become more frequent as increasing doses are administered to overcome drug resistance in cancer treatment, and might limit its use at very high doses before haematopoietic stem cell transplantation.

Adult↗

Brain infarction following 5-fluorouracil and cisplatin therapy.

Five patients with oropharyngeal cancer treated with 5-fluorouracil and cisplatin had ischemic stroke within 2 to 5 days after the drug infusion. This occurred during the second course of chemotherapy in three patients, and during the third course in two patients. There may be a relation between treatment and brain infarction because 1) there was no other cause identified despite extensive tests, including postmortem examination in one patient; 2) there was a short delay between treatment infusion and stroke; and 3) there was a similar pattern of ischemic stroke after the second or third course of chemotherapy.

Aged↗

An update on aortic causes of ischemic stroke.

In the past few years evidence that atherosclerotic disease of the aortic arch is probably an underestimate source of emboli, particularly moving thrombi in the lumen, has accumulated. Pathological studies, and more recently transesophageal echocardiographic studies, have shown that atherosclerotic disease of the aortic arch is an independent risk factor for ischemic stroke and carries a high risk of recurrent vascular events. It could account for a more or less part of brain infarcts of unknown cause, with no carotid or cardiac source of emboli. This location of atherosclerotic disease is rare under 60 years of age. It mainly involves patients older than 60 years of age, and is frequent in patients in their eighties. Transesophageal echocardiography is accurate, safe and well tolerated for the examination of the aortic arch, even in elderly patients. Practical implications for patients and future clinical trials are important. As it is a strong marker for recurrent vascular events, the risks and benefits of different therapeutic options should now be evaluated in randomised trials.

Aorta, Thoracic↗

[Gayet-Wernicke encephalopathy and centropontine myelionolysis induced by hyperemesis gravidarum].

A 24-year-old woman developed hyperemesis gravidarum, complicated by Wernicke's encephalopathy and central pontine myelinolysis. The first-was due to a deficiency of thiamine, and was hastened by intravenous dextrose without thiamine supplements. However, no changes in serum sodium or phosphorus values were observed. In this case, the pathophysiology of central pontine myelinolysis remained obscure.

Adult↗