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Biomedical subjects

P Beauvais

Publications and source records attributed to P Beauvais.

At least 19 recordsLinked to original sources
PubMed1997

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients. PATIENTS: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families. OUTCOME MEASUREMENTS: The following abnormalities were observed (frequency in 23 patients): motor delay, including fine-motor skills, 78%; language delay, 78%; hypotonia, 74%; mental delay, 74%; seizures, 48%; decreased or absent reflexes, 39%; ataxia, 30%; behavioral problems, 30%; hyperkinesis, 30%; neonatal problems, 26%; and electroencephalographic abnormalities, 26%. Associated findings included psychoses, cranial magnetic resonance or computed tomographic abnormalities, and ocular problems in 22% or less of patients. Therapy with vigabatrin proved beneficial to varying degrees in 35% of the patients. Normal early development was noted in 30% of patients. CONCLUSIONS: Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Adolescent↗
PubMed1996

Trends in drug use among American Indian students and dropouts, 1975 to 1994.

OBJECTIVES: This 20-year surveillance project tracks the trends in substance abuse among American Indian students and examines the observed patterns to discover implications for prevention and treatment. The current phase of this work includes data on drug use among Indian school dropouts. METHODS: Anonymous drug use surveys are administered annually to a nationally representative sample of 7th- to 12th-grade Indian youths residing on or near reservations. An adjustment for dropouts is made to provide estimates for the entire age cohort. RESULTS: Indian youth continue to show very high rates of drug use compared with their non-Indian peers. The trends in rates during the last 20 years parallel those of non-Indian youth. While overall drug use may be decreasing, about 20% of Indian adolescents continue to be heavily involved with drugs, a proportion that has not changed since 1980. Adjustment for school dropouts increases the estimate for the entire age cohort. CONCLUSIONS: Indian youth, particularly school dropouts, remain at high risk for drug use. The similarity to trends for non-Indians indicates that prevention strategies effective with other youth can be effective with this population.

Adolescent↗
PubMed1993

Cerebrovascular accidents in sickle cell disease. Risk factors and blood transfusion influence. French Study Group on Sickle Cell Disease.

This study presents a series of 34 sickle cell patients with one or more cerebrovascular accidents (CVA). Risk factors were studied in a subgroup of 19 patients whose clinical and biological characteristics were compared to those of a group of 444 sickle cell patients without CVA. The only risk factor discovered was a past history of purulent meningitis, which was significantly more frequent in sickle cell patients than in those without CVA (P < 0.0001). No biological or radiological factor affecting the risk of recurrence was found. The risk of recurrence, neurological defects or death after subsequent CVA justify long-term transfusion treatment in patients presenting with a second CVA. However our study shows that 10 patients who were not transfused after their first CVA had no recurrences, (median follow up = 7.9 years; 2-18 years), providing a basis for discussion on the indications of long-term transfusion therapy for sickle cell patients presenting with their first CVA.

Adolescent↗
PubMed1993

[Dengue. Apropos of 2 cases].

BACKGROUND. Dengue is an acute febrile illness caused by several arthropod-born viruses and characterized by biphasic fever, myalgia or arthralgia, rash, leukopenia and lymphadenopathy. Its diagnosis is based on knowledge of the geographic distribution of dengue viruses. CASE REPORTS Case no 1: A 11 year-old boy suffered from sudden onset of fever accompanied by retro-orbital headache, arthralgia and diffuse myalgia. There was no rash. Hemogram showed: hemoglobin: 11.6 g%; leukocytes: 3,400/mm3 (PMN: 76%); platelets: 190,000/mm3. A diagnosis of viral infection was considered, but, as the boy had recently been to the French West-Indies, a serologic study was performed. This was negative 2 days after the onset of disease and positive (specific IgM for the 4 dengue types), 13 days later. Case no 2: A 7 year-old boy suffered from sudden onset of fever. Severe calf muscle pain 4 days later led to his admission. Creatine phosphokinase activity was very high: 83,100 units (N: 30-120). Hemogram showed: hemoglobin: 11.4 g%; leukocytes: 2,500/mm3 (PMN: 60%); platelets: 124,000/mm3. A diagnosis of acute myositis was considered, but as the patient had recently visited Venezuela, a serologic study was performed. This was negative 8 days after the onset of disease and positive (specific IgM for the 4 dengue types) 16 days later. CONCLUSION. The first case is characteristic of the classical form of dengue fever. The second patient presented with very localized myalgia. The diagnosis in both cases was facilitated by the knowledge that the patient had recently stayed in an endemic area.

Acute Disease↗
PubMed1992

[Management of drepanocytic patients].

Comprehensive supportive care includes outpatient follow up (periodic evaluation of baseline status, psychosocial support, prevention of sepsis through oral prophylactic penicillin in young children and vaccinations, early treatment of acute episodes (painful crises, other vaso-occlusive events, infection, acute anemia...); In adulthood residual organ dysfunction becomes one of the foremost problems. Further, more specific high risk situations (pregnancy, anesthesia) require adequate responses. Early diagnosis, improved strategy of care best achieved in Sickle Cell Centers can reduce mortality and morbidity in the aim of providing a better quality of life.

Acute Disease↗
PubMed1992

[Creutzfeldt-Jakob disease in 4 children treated with growth hormone].

Creutzfeldt-Jakob disease was diagnosed in four growth hormone recipients at the age of 10, 11, 18 and 19 years. To our knowledge, the two first cases are the first instances of Creutzfeldt-Jakob disease recorded in children. Three of them were still being treated with synthetic hormone at the onset of the disease. Neurological disorders: ataxia and diplopia, appeared first, dementia and myoclonus appeared later. Eighteen cases of Creutzfeldt-Jakob disease in growth hormone recipients are now recorded, and the present risk of Creutzfeldt-Jakob disease in pituitary growth recipients is estimated to be 1/300. Because of the long incubation period, new cases are to be feared. Other causes of iatrogenic Creutzfeldt-Jakob disease are reviewed. These facts incite to consider carefully using products of human origin in human therapy. The interactions between growth hormone, prion and host's genomic make-up are still not clear.

Adolescent↗
PubMed1990

[Knee arthritis caused by Eikenella corrodens. Apropos of a case].

We report a case of septic arthritis of the knee following an articular wound caused by a bite in a previously healthy 8-year-old girl. The causative agent was Eikenella corrodens, an opportunistic bacteria that is normally part of the commensal flora of the oral cavity. We point out that Eikenella corrodens may cause severe complications in healthy subjects and emphasize the need for considering this organism not only in infections of the hands, face and neck, but also after bites. Penicillins are consistently effective and constitute the treatment of choice.

Arthritis, Infectious↗