Iodomethylated fatty acid metabolism in mice and dogs

The myocardial uptake of fatty acids labeled with radioactive iodine and injected i.v. can only be evaluated with SPECT if their oxidation kinetics is slow enough. For this reason, we evaluated different iodomethylated fatty acids in mice and dogs to determine which of them shows the highest myocardial uptake and the slowest oxidation. The most suitable was found to be 16-iodo-3-methyl hexadecanoic acid (mono ) since its myocardial fixation was the same as that of the reference, i.e. 16-iodo-9-hexadecenoic acid (IHA), whereas it was degraded more slowly. Thirty min after injection of mono into dogs, the decrease in myocardial activity with respect to the maximum was two fold less than after IHA injection. The myocardial uptake of the two dimethylated fatty acids studied, i.e. 16-iodo-2,2-methyl hexadecanoic acid and 16-iodo-3,3-methyl hexadecanoic acid, was less than that of IHA in mice and dogs. In the latter, the myocardial uptake was so small that we were unable to study the time course of its activity. Consequently, these dimethylated fatty acids are not suitable for the study of the myocardial uptake of fatty acids in man.     

Aneurysm of the abdominal aorta in an eighteen-month-old child

We report the case of an infected aneurysm of the abdominal aorta in a 18 month-old child, discovered by routine palpation of the abdomen during hospitalization for pneumonia. Ultrasonography and arteriography showed a 6 cm aneurysm of the abdominal aorta beginning distal to the renal arteries which occluded the right common Iliac artery. The aneurysm was treated by interposing a 6 mm Gore-Tex graft between the infrarenal aorta and the aortic bifurcation. Pathologic examination of the aneurysmal wall demonstrated a leukocytic Infiltrate and the presence of encapsulated Gram positive organisms. Arterial aneurysms are exceedingly rare in children. Their etiology is varied: infection, connective tissue disease, trauma, inflammatory arterial disease or other rare diseases such as tuberous sclerosis, neurofibromatosis, or Beçhet’s disease.     

Respiratory hazards in hard metal workers: a cross sectional study

A cross sectional study was conducted on 513 employees at three hard metal plants: 425 exposed workers (351 men, 74 women) and 88 controls (69 men, 19 women). Cough and sputum were more frequent in workers engaged in "soft powder" and presintering workshops compared with controls (12.5% and 16.5% v 3.5%). Spirometric abnormalities were more frequent among women in sintering and finishing workshops compared with control women (56.8% v 23.8%) and abnormalities of carbon monoxide test were more frequent in exposed groups than in controls; this difference was more pronounced in women (31.4% v 5.6%) than in men (18.5% v 13%). No significant correlation was observed between duration of exposure and age adjusted lung function tests. Slight abnormalities of chest radiographs (0/1, 1/1 according to ILO classification) were more frequent in exposed men than controls (12.8% v 1.9%) and mostly in soft powder workers. In subjects with abnormal chest radiographs FVC, FEV1 and carbon monoxide indices (fractional uptake of CO or CO transfer index or both) were lower compared with those with normal chest radiographs. Although relatively mild, the clinical, radiological, and functional abnormalities uncovered call for a regular supervision of workers exposed to hard metal dust.     

The diagnostic use of the second oscillatory potential in clinical electroretinography

Of all the electroretinogram (ERG) components (a-wave, b-wave, and oscillatory potentials) only one oscillatory potential, OP₂, was found to be significantly correlated with the absolute intensity of the flash stimulus (i.e., the intensity of the stimulus irrespective of the state of retinal adaptation). Our finding was further confirmed in single cell recordings of lateral geniculate unit activity in rabbits in which peak time of OP₂ was found to correlate better with the geniculate activity. For these reasons we have identified OP₂ as the intensity coding oscillatory potential of the ERG. In order to investigate if this new feature could have some clinical significance, we examined photopic ERGs recorded from patients affected with various retinopathies. In most instances the peak time of OP₂ paralleled that of the b-wave, that is, in the ERG with delayed b-wave the peak time of OP₂ was also delayed, while in ERGs with normal b-wave peak time the peak time of OP₂ was also normal. However, in some conditions (especially in cone-rod diseases) a delayed OP₂ was found in ERGs with normal b-wave peak times.     

Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings

Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.     

Studies on mutants deficient in the photosystem I reaction centers in Chlamydomonas reinhardtii

Summary Genetic analysis of 25 nuclear mutants defective in the chlorophyll-protein complex CP1 was undertaken. The mutants belong to 13 complementation groups scattered throughout the nuclear genome. All these mutants lack the apoprotein of CP1 and, in addition, a specific set of six low molecular weight thylakoid polypeptides. System I particles obtained by treating WT thylakoid membranes with detergent specifically contain those polypeptides which the mutants lack. These observations suggest that a particular sub-structure of the thylakoid membrane associated with the photosystem I activity is missing from all 25 mutants studied, and that this general phenotype can result from mutation at any one of several unlinked Mendelian loci.     

Complex Ph1 translocation in chronic myeloid leukemia

This report describes a new case of chronic myeloid leukemia with an unusual Philadelphia chromosome translocation involving chromosomes No. 4,9, and 22; t(4,9,22) (q31;q34;q11).