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Biomedical subjects

J Mancini

Publications and source records attributed to J Mancini.

78 records · Page 5Linked to original sources
PubMedDate not supplied

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported. Several clinical signs were present in all 3 children, including failure-to-thrive, susceptibility to infections, hepatosplenomegaly, cataract, and psychomotor retardation. Dysmorphic features were more apparent in the two older siblings. Urinary organic acid analysis by gas chromatography/mass spectrometry invariably revealed a high urinary excretion rate of mevalonic acid. Mevalonate kinase activity assayed in fibroblasts was very low. Diagnosis of this very rare disease may be suspected simply on clinical evidence; it is confirmed by abnormal excretion of mevalonic acid.

Brain Diseases, Metabolic↗
PubMedDate not supplied

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene rearrangements that escape the common PCR-based mutation screening strategy and mutations in a novel MeCP2 isoform (named MECP2B). We have collected the results of MECP2 mutational analysis concerning 424 RTT patients conducted in eight laboratories in France. In total, 121 different MECP2 mutations were identified. R168X (11.5%) is the most common of MECP2 mutations, followed by R270X (9%), R255X (8.7%), T158 M (8.3%) and R306C (6.8%). Only eight mutations had relative frequency>3%. Large and complex rearrangements not previously detected using only a PCR-based strategy represent 5.8% of MECP2 mutations. On the contrary, mutation in exon 1 appears to be rare (less than 0.5%). These data demonstrate the high allelic heterogeneity of RTT in France and suggest that routine mutation screening in MECP2 should include quantitative analysis of the MECP2 gene. This study represents an important instrument for molecular diagnosis strategy and genetic counseling in RTT families.

Cohort Studies↗
PubMedDate not supplied

Initial mothering patterns of low-income black primiparas.

Observations at three separate intervals of 24 black, low-income primiparas revealed that there is not necessarily a progressive use of the mother's fingers, hands, and arms during the attachment process. Although the mothers did use fingertips to explore their new infants at some time during the first contact, this was not their immediate behavioral responses as defined by Rubin as well as Klaus, et al. The orderly sequence from fingertip exploration to encompassing behavior has been noted by Rubin to occur over a period of time. Klaus reports the interval to be only days. The mothers in this study exhibited encompassing behavior immediately by reaching out for their infants using both hands and arms. The majority held and looked at their new babies throughout the contact time indicating the instinct for the en-face position which Klaus, et al. have described so clearly. The study data would also support Perry's statement that eye contact is an indicator of the intensity of the mother-infant interaction. Over one-half of the subjects, during the first contact, initiated verbal response to their infants. None, however greeted their infants by using given names. Clark, Affonso, and Harris do not refer to the significance of identification of baby by the mother, only to verbal interaction. All mothers in the study made positive statements regarding their infants's appearance and behavior which compares exactly with findings of Robson and Moss.

Adolescent↗
PubMedDate not supplied

[Ataxia-opsoclonus-myoclonus syndrome].

The ataxia-opsoclonus-myoclonus syndrome that was well individualized by Kinsbourne is mostly observed in young children (less than three years old in 90 percent of the cases). From six personal cases, and from a review of ninety cases of the literature, the clinical and etiological features, as well as the evolution of the syndrome, are studied. Prodromes (infectious and digestive manifestations) and comportmental changes usually precede the sudden onset of the clinical triad. Neurologic complementary investigations are typically normal during the acute phase. The frequent association (46 percent of the cases) of this syndrome to a neuroblastoma (usually thoracic) makes it very particular from the etiological point of view. The evolution is identical whatever the type ("isolated" or "tumoral"). Corticotherapy (ACTH or corticoids) is efficient in 60 percent of the cases. But recurrences and cerebral sequelae (mental deficiency and speech disorders) are frequent.

Adrenal Cortex Hormones↗
PubMedDate not supplied

[Generalized epilepsy disclosing medium-chain-acyl-CoA dehydrogenase deficiency].

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited defect of fatty acid beta-oxidation. As it causes life-threatening symptoms, it is mandatory to diagnose deficiencies of this enzyme in families. CASE REPORT: A boy was admitted at the age of 3 months because of a recent attack of generalized seizures. His parents were second cousins and one of his 2 sisters, 6 years old, suffered from epilepsy. At admission, the patient had moderate hepatomegaly; he was given clonazepam and phenytoin because of persistent status epilepticus. He developed a fever (temp.: 39 degrees) and a rash 24 hours later. A viral etiology was suggested by CSF contents of 104 cells/mm3 and 1 g/l protein. The patient was given aciclovir. Blood glucose, transaminases, ammonia, lactate, pyruvate and amino acids levels were normal. Analysis of urine by GC-MS revealed a large lactate peak and dicarboxylic acids, unsaturated dicarboxylic acids, hydroxyhexanoate, 7-hydroxyoctanoate, hexanoylglycine and suberylglycine. This profile indicated a MCAD deficiency. The plasma contained partially oxidized medium-chain fatty acids, such as octanoic acid and especially 4-decenoic acid. the diagnosis was confirmed by a phenylpropionate loading test and specific enzyme assay in fibroblasts. Molecular studies identified a G 985 mutation in the patient and revealed that the parents were heterozygotes for the mutation. The condition of the patient at the age of 18 months is excellent; he has a regular, adequate caloric intake and avoids fasting. He has not taken anti-epileptic drugs for the past 6 months. CONCLUSION: There is no typical clinical presentation of MCAD-deficiency; the most frequent features are vomiting and lethargy. Episodic hypoglycemia has been reported, but hypoglycemia was not found in our patient. Molecular studies will allow neonatal diagnosis of the next affected siblings.

Acyl-CoA Dehydrogenase↗