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1.
Semin Pediatr Neurol ; 19(2): 75-81, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22704260

ABSTRACT

Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, which were negative for mutations in the PANK2 and PLA2G6 genes. Follow-up molecular genetic and in vitro analyses were then performed. We did not find any mutations in the FA2H gene, although we identified 3 patients carrying novel mutations in the C19orf12 gene. The recent discovery of new genes responsible for NBIA extends the spectrum of the genetic investigation now available for these disorders and makes it possible to delineate a clearer clinical-genetic classification of different forms of this syndrome. A large fraction of patients still remain without a molecular genetics diagnosis, suggesting that additional NBIA genes are still to be discovered.


Subject(s)
Genetic Predisposition to Disease/genetics , Mitochondrial Proteins/genetics , Mixed Function Oxygenases/genetics , Mutation/genetics , Neuroaxonal Dystrophies/genetics , Adolescent , Adult , Cohort Studies , DNA Mutational Analysis , Female , Genotype , Humans , Iron Metabolism Disorders , Italy , Male , Microscopy, Electron, Transmission , Mitochondrial Proteins/metabolism , Mixed Function Oxygenases/metabolism , Neuroaxonal Dystrophies/metabolism , Neuroaxonal Dystrophies/pathology , Skin/pathology , Skin/ultrastructure , Young Adult
2.
J Clin Psychiatry ; 67(2): 305-9, 2006 Feb.
Article in English | MEDLINE | ID: mdl-16566628

ABSTRACT

BACKGROUND: Herbal preparations for depression, such as St. John's wort, are often preferred over pharmaceutical preparations by mothers and midwives after childbirth because these preparations are available to patients as over-the-counter "natural" treatments and are popularly assumed to be safe. The only existing report on St. John's wort excretion into human milk showed that only 1 active component (hyperforin) was detectable in breast milk, but was not detectable in the infants' plasma. Another report found more cases of minor problems in infants breast-fed by women taking St. John's wort. However, significance was reached only in comparison with disease-matched women (p<.01), not healthy controls (p=.20). METHOD: Five mothers who were taking 300 mg of St. John's wort 3 times daily (LI 160 [Jarsin], Lichtwer Pharma GmbH; Berlin, Germany) and their breastfed infants were assessed. Thirty-six breast milk samples (foremilk and hindmilk collected during an 18-hour period) and 5 mothers' and 2 infants' plasma samples were analyzed for hyperforin levels by tandem mass spectrometry (LC/MS/MS; limit of quantification=0.1 ng/mL). Data were gathered from January 2001 to February 2002. RESULTS: Hyperforin is excreted into breast milk at low levels. However, the compound was at the limit of quantification in the 2 infants' plasma samples (0.1 ng/mL). Milk/plasma ratios ranged from 0.04 to 0.13. The relative infant doses of 0.9% to 2.5% indicate that infant exposure to hyperforin through milk is comparable to levels reported in most studies assessing anti-depressants or neuroleptics. No side effects were seen in the mothers or infants. CONCLUSION: These results add to the evidence of the relative safety of St. John's wort while breast-feeding found in previous observational studies.


Subject(s)
Breast Feeding , Depressive Disorder/drug therapy , Hypericum/metabolism , Milk, Human/chemistry , Phloroglucinol/analogs & derivatives , Phytotherapy/methods , Plant Preparations/pharmacokinetics , Terpenes/pharmacokinetics , Adult , Breast Feeding/adverse effects , Bridged Bicyclo Compounds/pharmacokinetics , Bridged Bicyclo Compounds/therapeutic use , Depressive Disorder/blood , Depressive Disorder/metabolism , Female , Humans , Hypericum/adverse effects , Infant , Mass Spectrometry , Maternal Exposure/adverse effects , Maternal-Fetal Exchange , Milk, Human/metabolism , Phloroglucinol/pharmacokinetics , Phloroglucinol/therapeutic use , Phytotherapy/adverse effects , Plant Preparations/analysis , Plant Preparations/blood , Pregnancy , Terpenes/therapeutic use
3.
J Nerv Ment Dis ; 191(12): 806-12, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14671457

ABSTRACT

Aside from delusions, hallucinations, and thought disorders, affective disturbances belong to the most prominent symptoms of the schizophrenic process. However, nearly no empirical work has been done on the systematic investigation of the dream affects of patients with schizophrenia. We compared 96 dreams of 19 patients with schizophrenia and an equal number of dreams of 19 healthy controls collected over an 8-week period by means of the Gottschalk-Gleser Analysis Scales. Additionally, central psychopathological syndromes were measured by means of the AMDP-scales each day a patient reported a dream. Although cluster analyses showed general similarities in the organization of dream affects in the two groups, we found differences between patient and control groups in the frequency and intensity of anxious and hostile affects. As in delusions of persecution, patients experience themselves in their dreams more frequently as victims of hostility from outside, which corresponds well with a significantly higher intensity of threat anxieties (death, mutilation). On the other hand, value anxieties (guilt and separation) are found less frequently in the dreams of patients with schizophrenia pointing, together with a less differentiated organization of the dream affects, to the typical affective flattening of residual syndromes.


Subject(s)
Anxiety/psychology , Dreams/psychology , Hostility , Schizophrenic Psychology , Adult , Chi-Square Distribution , Female , Humans , Male
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