Biomedical subjects
Publications and source records attributed to M Bourgeois.
A three-year-old child affected by glycogen storage disease (GSD) type Ia presented with acute hemiplegia secondary to Moyamoya disease. So far, the association of moyamoya with GSD Ia had only been reported twice. The rarity of both conditions makes their association unlikely to be a chance event and an etiological relationship between them must be considered.
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich-Turner syndrome and genotype/phenotype correlations of X chromosome deletions.
Survey questionnaires were mailed to public hospital psychiatrists practising in a French region to obtain information on the manic-depressive outpatients they personally followed up. Data were collected on 222 manic-depressive outpatients managed by 43 separate psychiatrists. More than two thirds were receiving at least one antipsychotic, and 17% were prescribed a depot-neuroleptic. Predictors of antipsychotic prescription were a history of psychotic features (OR = 3.4; 95%CI 1.7-6.9), early age at onset (OR = 2.1; 95%CI 1.0-4.8) and low educational level (OR = 3.1; 95%CI 1.5-6.3). Similar predictors were found for depot-neuroleptic prescription. Although these indicate that the prescription of antipsychotic for manic-depressive outpatients is not random, only 14% of patients were receiving mood stabilizers only. Owing to the potential side effects of antipsychotics, the benefit-to-risk ratio of antipsychotic use in the maintenance treatment of manic-depressive patients has to be carefully taken into account.
UNLABELLED: We report two children with acquired third degree AV-block caused by acute myocarditis. The diagnosis was proven by endomyocardial biopsy. Severe lymphocytic myocardial infiltration was shown using immunohistological methods. One of the children was treated with prednisone During therapy conduction disturbance nearly disappeared and infiltration was markedly reduced in a subsequent biopsy. In the other patient the parents refused immunosuppressive treatment and a permanent pacemaker was necessary for persistent bradycardia. CONCLUSION: Immunohistological staining of an endomyocardial biopsy can be used to establish the diagnosis of myocarditis in patients with atypical clinical manifestation, such as complete AV-block, and can support the decision for therapy. In one patient improvement was documented by the disappearance of inflammatory activity in a repeated biopsy.
There is evidence of the clinical efficacy and safety of clomipramine and the newer selective serotonin reuptake inhibitors (SSRIs) for the treatment of obsessive-compulsive disorder (OCD). In the present study, we have compared the efficacy and safety of 40 mg/day of fluoxetine and 150 mg/day of clomipramine in patients with OCD, diagnosed according to DSM-IIIR. A total of 55 patients entered this 8-week, double-blind controlled study. Efficacy for both drugs was comparable. The primary efficacy criterion, the Y-BOCS Total score, did not show any significant differences between treatment arms. Response rate was higher with clomipramine, using a 25% decrease in Y-BOCS Total score as response threshold, but there were no significant differences between treatment arms using a 35% threshold. Overall safety and tolerability were good for both drugs, being slightly better for fluoxetine.
In a prospective randomized, double-blind, placebo-controlled clinical study, the safety and efficacy of the platelet-activating factor antagonist TCV-309 in the treatment of systemic inflammatory response syndrome was studied. In total 29 patients were treated with 1.0 mg/kg TCV-309 twice daily during 7 days or with placebo. Study parameters were as follows: adverse events, 28 and 56 day all cause mortality, multi-organ failure scores, and the inflammatory mediators tumor necrosis factor, interleukin 6, interleukin 8, and soluble E-selectin. There was no difference in number and severity of adverse events between TCV-309- and placebo-treated patients. Day 28 and day 56 mortality was similar in both groups (day 56: 7/12 TCV-309 vs. 9/16 placebo, NS). Pulmonary and hematological failure scores improved significantly in TCV-309-treated patients (p < .05). There was no difference in inflammatory mediator levels between TCV-309- and placebo-treated patients. Treatment with TCV-309 appears to be safe in patients with systemic inflammatory response syndrome and does improve organ failure significantly.
All in-hospital interventions by the crash team of our hospital were recorded and evaluated retrospectively from 1 January 1992 to December 1994 and prospectively for 1995. The most frequent diagnosis was some type of cardiac arrest with a maximal incidence of 32.4% in 1994. Intubation was required in 58.7% of the cases in 1995. Outcome is better on surgical wards and for emergencies in the catheter laboratory compared with medical wards. The inappropriate overruling of the 'do not attempt resuscitation' (DNAR) policy eventually resulted in one survivor. We identified at least five cardiac arrest patients with an unacceptable delay in advanced life support. Our in-hospital critical incident registry resulted in a better policy for appropriate and timely intensive care unit referral.
Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy. Two were brothers and three had consanguineous parents. No metabolic defect was detected. The clinical and magnetic resonance imaging features are similar to those of patients previously reported. These five new cases add arguments to delineate a new type of leukodystrophy with megalencephaly in infancy and autosomal recessive inheritance.
What was known in the past as "obsessive psychoneurosis" was considered to be rare, chronic and difficult to treat. New definitions proposed by APA diagnostic systems (DSM III, DSM III-R, DSM IV) and the WHO (ICD-10) have opened up the possibility of epidemiologic studies in the population as a whole and among patients consulting psychiatrists and general practitioners. All these studies reveal a much higher prevalence, the incidence increasing from 0.05% (former estimate) to about 2.5% of the general population (American ECA survey). This implies new clinical and etiopathogenic concepts of this pathology. Experience of so-called antidepressant drugs, with an essentially serotoninergic action, bringing about a notable improvement in obsessive disorders, has greatly contributed to these changes. COD and COS are very often interlinked with other psychiatric symptomatology, this frequent co-morbidity raising the question of the autonomy of certain syndromes, as well as that of the borders between the normal and pathological. The TOC of clinicians are not the same as the TOC of epidemiologists. Another problem is that of the role played by these obsessive disorders in what has been referred to as "general neurotic syndrome". What is the relationship between mood disorders and anxious pathology as a whole, insofar as the same drugs are indicated in these various disease patterns. We report here the results of the DRT survey involving patients presenting for the first time to psychiatrists in office practice and concerning 731 COD and COS, i.e. 17 % of 4 364 adult out-patients (6.5 % definite COD, 2.7 % probable COD and 7.5 % COS).
Risk factors promoting the occurrence of neuroleptic-related tardive dyskinesia remain poorly understood. It has been hypothesized that type II schizophrenia, based on Crow's classification, would be more liable to this complication due to cerebral structural abnormalities involved in the pathogenesis of schizophrenia characterized by deficitary symptoms. Association between tardive dyskinesia and cognitive deficit is currently the most firmly established. Data in the literature concerning the association between tardive dyskinesia and the other features of type II schizophrenia are more contradictory.
According to general practitioners, anxiety disorders are amongst the commonest complaints in primary care. A survey carried out by réseau Sentinelle in June 1995 showed that acute panic attacks in general practice have given rise to 300,000 hours of consultations per year by general practitioners in France. Positive diagnosis raises practical difficulties in the surgery or at home, GPs could avoid such difficulties by using diagnosis criteria based on DSM IV and having knowledge of the patient's anticipation anxiety. In order to make the differential diagnosis, GPs will need to rule out any organic cause, notably cardiovascular pathology. Prior acquaintance with the patient will be of great help. A decision to treat is based on the frequency of acute panic attacks and on exchange of information with the psychiatrist. In return, the specialist will assist the GP in managing the patient's condition.
The nosological concept of depression in adolescents is still relatively poorly understood. Clinical expression varies greatly although behavioural disorders and suicidal acts are frequent signs. As an alternative to drug therapy, cognitive psychotherapy appears to be a promising approach offering a structured therapeutic tool applicable within a short period of time. We report the case of a 18-year-old girl who suffered from chronic depression and had attempted suicide several times in spite of previous hospitalization and psychoanalytic therapy. She was successfully treated with 16 sessions of cognitive psychotherapy conducted according to the Beck method in combination with fluvoxamine which had been insufficient given alone. The different phases of the therapeutic approach are discussed during hospitalization then as an out patient. Cognitive psychotherapy is technically feasible treatment for depression in the adolescent and has been demonstrated to be effective in our case.
130 patients fulfilling DSM-III-R criteria for bipolar disorder (n = 62), bipolar disorder not otherwise specified (n = 19) and major depression (n = 49) were included in a comparative study on the occupational levels of uni- and bipolar probands and relatives. The occupational levels did not significantly differ between uni- and bipolar probands. An overrepresentation was found in the higher occupational class in bipolar probands' brothers and children. A comparison between the whole groups including probands and all their relatives revealed a social advantage both for male and female members of bipolar families. These results are in agreement with those of previous studies demonstrating an association between bipolar disorder and social achievement in relatives.
Dysembryoplastic neuroepithelial tumors (DNT) occur mainly in children and are always clinically associated with intractable complex partial seizures. In the first report, which included 39 cases, the patients had no neurological deficit and no stigmata of phacomatosis. In contrast, we observed a DNT in 2 children with a neurofibromatosis type 1. The first patient developed intractable complex partial seizures at age 9 years and was operated at the age of 13 years. Neuroimaging study showed multifocal involvement with three separated lesions in the frontal, parietal and temporal lobes. The second patient was a 16-year-old boy with 5-year history of severe and refractory epilepsy. Magnetic resonance imaging identified a right temporal lesion and the patient underwent a right temporal lobectomy. This unusual association of two cases of DNT with neurofibromatosis type 1 raises the question of whether this association is specific or fortuitous.
The present study assessed the effects of neuroleptic medication on tests sensitive to frontal and non-frontal lobe function in schizophrenic patients. A test-retest design before and after initiation of neuroleptic treatment was used. The performance of schizophrenics was compared with that of matched normal controls. Schizophrenics performed more poorly than controls on most tests at both first and second testing. Patients' performance improved significantly between the test and the retest on the digit symbol subtest of the WAIS-R and on the Stroop 'color naming' subtest. Similarly, performance on the verbal fluency test and on the Rey complex figure recall tended to be better at the retest, although not significantly. The deficit on the Wisconsin Card Sorting Test (WCST) remained stable over time in patients. The result suggest that neuroleptics give no negative effects on cognitive functioning in schizophrenics.
We now report a mutation in the nuclear-encoded flavoprotein (Fp) subunit gene of the succinate dehydrogenase (SDH) in two siblings with complex II deficiency presenting as Leigh syndrome. Both patients were homozygous for an Arg554Trp substitution in the Fp subunit. Their parents (first cousins) were heterozygous for the mutation that occurred in a conserved domain of the protein and was absent from 120 controls. The deleterious effect of the Arg to Trp substitution on the catalytic activity of SDH was observed in a SDH- yeast strain transformed with mutant Fp cDNA. The Fp subunit gene is duplicated in the human genome (3q29; 5p15), with only the gene on chromosome 5 expressed in human-hamster somatic cell hybrids. This is the first report of a nuclear gene mutation causing a mitochondrial respiratory chain deficiency in humans.
We report a case of intimal rupture of aortic isthmus in a severe polytrauma patient diagnosed with transoesophageal echocardiography (TEE). TEE findings were as follows: localized intimal tear without increased aortic diameter or pseudoaneurysm, absence of mediastinal haematoma or false lumen. CT scan and MRI confirmed the diagnosis. Because of the associated injuries, surgery was delayed. Conservative management was successful and the patient was discharged without aortic surgery. A follow up TEE, 3 and 6 months later showed a thrombosis of the intimal tear without false aneurysm. This case underlines the value of TEE in patients with thoracic trauma, for surgical or nonsurgical management of aortic rupture and for the follow up of the patients.
The so-called "secondary mania" are manic syndromes complicating various kinds of somatic illness. Cases of secondary mania following brain injury (i.e., tumors, cerebrovascular lesions, head traumas, infectious diseases, etc.) offer the opportunity to better elucidate the pathophysiology of "primary" mania. Published case reports of secondary mania are reviewed.