[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)]. / Intolérance musculaire à l'effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d'effort, spectroscopie RMN du P31).

INTRODUCTION: Muscle phosphofructokinase deficiency, the seventh member of the glycogen storage diseases family, is also called Tarui's disease (GSD VII). METHODS: We studied two patients in two unrelated families with Tarui's disease, analyzing clinical features, CK level, EMG, muscle biopsy findings and molecular genetics features. Metabolic muscle explorations (forearm ischemic exercise test [FIET]; bicycle ergometer exercise test [EE]; 31P-nuclear magnetic resonance spectroscopy of calf muscle [31P-NMR-S]) are performed as appropriate. RESULTS: Two patients, a 47-year-old man and a 38-year-old woman, complained of exercise-induced fatigue since childhood. The neurological examination was normal or showed light weakness. Laboratory studies showed increased CPK, serum uric acid and reticulocyte count without anemia. There was no increase in the blood lactate level during the FIET or the EE although there was a light increase in the respiratory exchange ratio during the EE. 31P-NMR-S revealed no intracellular acidification or accumulated intermediates such as phosphorylated monoesters (PME) known to be pathognomic for GSD VII. Two new mutations were identified. DISCUSSION: FIET and EE were non-contributive to diagnosis, but 31P-NMR provided a characteristic spectra of Tarui's disease, in agreement with phosphofructokinase activity level in erythrocytes. Muscle biopsy does not always provide useful information for diagnosis. In these two cases, genetic studies failed to establish a genotype-phenotype correlation. CONCLUSION: The search for phosphofructokinase deficiency should be continued throughout life in adults experiencing fatigability or weakness because of the severe disability for daily life activities caused by the late onset form.

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report.

An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant.

[Turner syndrome and nodular regenerative hyperplasia of the liver]. / Syndrome de Turner et hyperplasie nodulaire régénérative du foie.

Turner's syndrome is an ovarian dysgenesis (karyotype 45 X0) characterized by sexual infantilism and multiple malformations. Liver enzyme anomalies are often observed, but the underlying pathogenic mechanism remains unknown. Nodular regenerative hyperplasia of the liver is associated with another disease in about 80% of cases. However, these two diseases have only been reported together in one woman. We describe here a second case of this association "Turner's syndrome and nodular regenerative hyperplasia". We think that women with Turner's syndrome should benefit from screening for nodular regenerative hyperplasia by searching for elevated liver enzymes. This easily applicable screening protocol would provide early diagnostic of nodular regenerative hyperplasia and allow early and effective treatment of portal hypertension. Moreover, this approach would improve our knowledge of this association.

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

[Agenesis of the corpus callosum in a man with complete mosaic trisomy 8]. / Agénésie du corps calleux chez un homme ayant une trisomie 8 complète en mosaïque.

The coexistence in an epileptic patient of a radiologically confirmed agenesis of the corpus callosum and other somatic abnormalities, notably skeletal, prompted us to perform a karyotype which showed an extra chromosome 8. The trisomy 8-callosal agenesis association is not exceptional, but it may easily be missed owing to the absence or scarcity of clinical signs of the cerebral malformation. We would suggest that patients with confirmed agenesis of the corpus callosum should be investigated for trisomy 8 and conversely, that patients with trisomy 8 detected during examination for a characteristic malformative syndrome should be systematically investigated for abnormality of the neocortical commissure.

[Effects of castration on the development of the juxtaglomerular apparatus in the albino rat during growth]. / Effets de la castration sur le développement de l'appareil juxtaglomérulaire du rat albinos pendant la période de croissance.

With the purpose to show a possible sexual difference in the evolution of the juxtaglomerular granular cells during the albino rat post-natal development, the authors have compared groups of male and female animals of crescent ages from 2 to 90 days old. During the first 30 days, the granulation indexes, which express the secretory activity of the Ruyter cells, are regularly increasing as the body and renal weights. On and after the 30th day, the growth becomes more important for males than for females but, in spite of these weight differences, the granulation indexes are not significantly different in terms of sex, at the same age. In order to control these results, castrations have been performed during the period of granular cells increase, on the 17th day of life. The comparison of castrated and uncastrated animals on the 35th day shows that castration causes repercussions on the body and renal growth. On the other hand, no significant modification of the granulation indexes occurs, which brings the demonstration that the Ruyter cells development is independent of the animal sex.

[X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)]. / Délétion du petit bras d'un chromosome X et syndrome de Turner. Un nouveau cas : 46, X, del (X) (p11).

From a new case of a young woman with a rare X short arm deletion on band 11 and review of literature, it is suggested that loss of short arm by juxta-centromeric break does not involve complete somatic Turner syndrome. Short stature depends on distal deletion (p21 or p22). The p11 - p21 segment of X chromosome carries a gene essential for gonadal development.

[Cervical muscular tissue in pregnant women and Macaca monkey females. Functional evaluation "in vivo" using an electrophysiological technique]. / Le tissu musculaire cervical chez la femme et le singe macaque gravides. Evaluation fonctionnelle "in vivo" au moyen d'une technique électrophysiologique.

In vivo recordings of electrophysiological activity of the muscular tissue in the cervix, in both the pregnant human female and Macaca monkey, showed that most of the cervix did not present a measureable electrical activity. Only muscular tissue located in the peripheral, supra vaginal portion of the cervix, exhibited a noticeable propagated E.M.G. activity, which always originated in the fundus. This accords well with histological studies which demonstrate that this portion of the cervix is the richest in muscular tissue. It is however possible that the other muscular cells of the cervix have a role other than a contractile one, and may be responsible for synthetizing or catabolizing constituant parts of the cervical connective tissue.