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P Thierry

Publications and source records attributed to P Thierry.

8 recordsLinked to original sources
PubMed1999

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two EA2 families and in one sporadic case. These three mutations disrupted the reading frame and led to truncated proteins. Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). However, except for SCA-6, these genotype-phenotype correlations relied on the analysis of very few families. METHODS: To characterize CACNA1A mutations, eight familial and seven sporadic EA2 patients were selected. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis. In addition, the length of the CAG repeat has been determined in all patients. RESULTS: Seven new mutations were detected in four multiple case families and three sporadic cases. Six of them lead most likely to truncated or aberrant proteins. CAG repeat sizes were in the normal range. CONCLUSION: These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).

Adolescent↗
PubMed1995

[The European experience with megadose therapy and autologous bone marrow transplantation in solid tumors with poor prognosis Ewing sarcoma, germ cell tumors and brain tumors)].

Since 1984 a total of 2085 patients with solid tumors have been registered in the European Bone Marrow Transplantation Registry for Solid Tumors (EBMT-STR). The major aim of this registry is to supply data by retrospective analysis for the innovation of prospective, randomized studies. 104 Ewing's sarcoma patients received megatherapy followed by autologous bone marrow transplantation (MGT/ABMT). The 2-year overall survival was 31% in 14 patients with multifocal disease in first complete remission (CR1) and was 37% for 15 patients in second CR (CR2). (6 patients with local disease in CR1 have been excluded.) These results are better than observed under conventional dose chemotherapy. 67 patients were grafted with measurable disease showing a response rate of 72%. The 2-year overall survival was 25% during primary treatments and 33% and 10% for sensitive and resistant relapses, respectively. 201 patients with germ cell tumors received MGT (combinations of platinum derivates, VP16, cyclophosphamide, ifosfamide) followed by ABMT. The overall survival at 5 years was 10% in refractory patients and 58% for 113 responding patients not in CR1 (i.e. first partial remission, CR2 and sensitive relapses). Based on these results and a French randomized trial a prospective, randomized study is underway comparing MGT versus conventional chemotherapy in chemosensitive patients. 219 adults with malignant brain gliomas underwent a program consisting of surgery, MGT (BCNU in the majority)/ABMT and radiotherapy. The overall survival at 3 years was 12%, the median survival was 11 months after ABMT. Life quality after ABMT was good, but no major improvement in terms of prolonged survival was achieved.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Initial chemotherapy and low-dose radiation in limited fields in childhood Hodgkin's disease: results of a joint cooperative study by the French Society of Pediatric Oncology (SFOP) and Hôpital Saint-Louis, Paris.

To minimize the drawbacks of treatment we had shown in a previous study that it was possible after chemotherapy to limit the radiation fields to the involved areas only. Pursuing our policy of deescalation, we started in January 1982 a study in 29 French pediatric and hematologic centers, with two aims: (1) To compare the efficacy of 4 cycles of two different chemotherapeutic regimens (4 ABVD vs 2 MOPP + ABVD) in early stages (CSIA and II A) while other stages would receive 6 cycles of the same regimen (3 MOPP + 3 ABVD); (2) To evaluate the efficacy of irradiation given at a low dose (20 Gy) in the patients who had a minimum 70% reduction of the size of their nodes (good responders). From January 1982 to March 1987, 174 patients were entered in this study, of whom 157 completed their treatment program at the time of analysis. On completion of chemotherapy, 94% were considered as good responders and were irradiated to 20 Gy. Only 6 patients received a mediastinal boost (up to 40 Gy). Of the 6% (10/157) poor responders a complete remission was obtained in 6 after 40 Gy. Among the good responders, 5 patients relapsed, with only 3 within an area irradiated to 20 Gy. So that 4 nodal relapses occurred among 364 involved lymph areas. The actuarial survival at 42 months (median 30 months) is 95% (IA + IIA = 100%, IB + IIB + III = 94% and IV = 80%) and the disease-free survival 88% (respectively 94, 93 and 54). Until now there is no statistically significant difference between the 2 randomized arms. This study shows that it is possible to achieve a durable remission in most children treated with a less toxic protocol eliminating or reducing Nitrogen Mustard and reducing the dose of irradiation. Less late complications and sequelae are expected with a longer follow-up.

Adolescent↗
PubMed1984

[Myasthenia and Basedow's hyperthyroidism].

The authors report an exceptional case of myasthenia gravis associated with Graves' disease. Myasthenia gravis appeared at age 8 years. Hyperthyroidism was diagnosed at age 12 1/2 and quickly worsened, with signs of cardiothyrotoxicosis. In addition to the diagnostic difficulties, the immunologic origin seems to be implicated in these diseases. Thymectomy associated with subtotal thyroidectomy was performed, with good results during an 18 months follow-up.

Child↗
PubMed1983

[Pyogenic sacroiliac arthritis in children. Analysis and commentary apropos of 7 cases].

Seven cases of pyogenic arthritis of the sacro-iliac joint in children were observed between 1968 and 1981. Their analysis is discussed with the conclusions of the too much rare publications in the recent literature. Taking in to account the anatomic particularities the necessity of very precise roentgenographic technics in order to assess the sacro-iliac joint, especially in children because of incomplete ossification, the authors replace this pathology into the osteomyelitis in children. From the clinical aspects of the disease, with its typically localized pain, and its acute clinical and biological septicemic syndrome, the authors attempt to demonstrate that the classical idea of a delayed diagnosis, is not absolute. Even in this particular localization, an early "up to date" diagnosis is possible allowing rapid treatment with efficient antibiotherapy directed towards the responsible germ after their isolation (especially staphylococcus aureus). Indubitable progress has been gained with systematic radio-nuclide bone scanning in emergency.

Adolescent↗