ALCOHOL-RELATED SUDDEN DEATH WITH HEPATIC FATTY METAMORPHOSIS: A COMPREHENSIVE CLINICOPATHOLOGICAL INQUIRY INTO ITS PATHOGENESIS

To clarify the pathogenesis of the widely known but obscuresyndrome of sudden death with hepatic fatty metamorphosis observedin alcohol abusers, we have scrutinized both the clinical andpathological data of 11 subjects who died under such circumstancesbetween 1987 and 1993. Death followed several days of uninterrupteddrinking often with little dietary intake. The notable clinicalfeatures on arrival at the emergency room were disturbance ofconsciousness (11/11), hypotension (47/6), hypothermia (3/5),hypoglycaemia (8/11), metabolic acidosis (6/6), renal dysfunction(11/11), and hyperammonaemia (5/5). The common hepatic pathologywas the extensive appearance of numerous microvesicular fattydroplets in the hepatocytes together with varying degrees ofmacrovesicular fatty change; four subjects had an underlyingcirrhosis. Death undoubtedly results from a variety of metabolicdisturbances triggered by the combination of massive ethanolintake and starvation. The appearance of extensive microvesicularfatty change superimposed on macrovesicular fatty change wasconsidered to be an associated phenomenon     

Dynamic mutation loci: allele distributions in different populations

To assess the relative contributions of trans -acting factors (replication and repair functions) and cis -acting elements (repeat and flanking DNA composition) to the mechanism of trinucleotide repeat sequence mutation we have analysed the distribution of copy number polymorphisms at 12 loci associated with dynamic mutations in 15 populations of different ethnic origins. Genome wide instability of repeats in a particular population would be evidence of trans -acting factor instigation of the mutation process, whereas instability at a particular locus (perhaps even in several populations) would be evidence that the composition of the particular locus was the most significant factor contributing to mutation. The FRA16A locus is highly polymorphic in only the European population. Some other loci exhibit distinct distributions of alleles between different populations. Therefore sequences in the vicinity of the repeat - the cis component of a particular locus - appear(s) to be more important in the mutation mechanism than sporadic genome-wide instability induced by trans -acting factors such as the DNA mismatch repair enzymes.     

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Japanese patients

We conducted molecular analysis of two candidate genes for spinal muscular atrophy (SMA), the survival motor neuron gene (SMN) and the neuronal apoptosis inhibitory protein gene (NAIP), in 16 Japanese patients with SMA and compared the phenotypic features of SMA in these patients with the corresponding genotypes. Exons 7 and/or 8 of SMN were homozygously deleted in 11 SMA type I (Werdnig-Hoffmann disease) patients, two SMA type II patients and one SMA type III patient. Exons 5 and 6 of NAIP were homozygously deleted in six SMA type I patients. No patient had a deletion in NAIP without a deletion in SMN. Mechanical ventilation was required during the first 7 months of life in the SMA type I patients who had a deletion in both SMN and NAIP. Ventilatory support was initiated within 2 years after birth in patients who had a deletion in SMN but not in NAIP. We detected homozygous deletion of exon 5 of NAIP in the unaffected mothers of two SMA type I patients. In these families, the patients exhibited a deletion in both SMN and NAIP. The parents and unaffected siblings of these patients did not have a deletion in SMN. The present findings support the hypothesis that SMN deletion plays an important role in the development of SMA and suggest that combined deletion of both SMN and NAIP may be relevant for determining the disease severity.     

An Operating Microscope with Higher Magnification and Higher Resolution for Cerebral Aneurysm Surgery: Preliminary Experience—Technical Note

We describe a higher magnifying power operating microscope system to improve one method of high-quality microsurgical clipping for cerebral aneurysm in some cases. This higher magnification is achieved by a new lens design in the optical system, which makes the image of the object very clear at high magnifications (distinctiveness of 7 μm). This higher-resolution operating microscope system provides the surgeon with higher-magnified images (at the maximum of more than 30× magnifications as each working distance) in the operating field. The magnifications can be changed from low power (2.9×) to high power (62.0×) depending on the circumstances in a given procedure. We have used this operating microscope system on 11 patients with microsurgical clipping for cerebral aneurysms. Microsurgical treatment could be performed safely and precisely. All aneurysms were treated without any technical complications. We think that the use of this microscope would have potential benefits for microsurgical treatment for cerebral aneurysms because of better visualization.     

Infectious diseases in African children

Present status and problems of infectious diseases in African children are detailed. The Department of Paediatrics, Mie University School of Medicine has 10 years' experience of international medical cooperation with African countries. At present, the department is participating in two projects in Ghana and Zambia. The activities have been carried out in the field of priority infectious diseases in African children. Major infectious diseases in Africa are malaria, diarrhoeal diseases, acute respiratory infections and some specific parasitic diseases. Human immunodeficiency virus infection has also become a threat to the health and survival of children in Africa. To reduce morbidity and mortality due to these diseases, primary health care activity may be an effective and economical measure. Japan is expected to make further technological and economical contributions to the control of the infectious diseases in developing countries. Japanese paediatricians should be aware of the condition of child health in developing countries and consider what can be done to help.     

Urinary uric acid excretion in term and premature infants

Objective : To clarify postnatal changes in urinary uric acid (UA) excretion in normal term infants and to examine the effects of prematurity or illness on the UA excretion.
Methodology : Measurements of urinary UA were performed in term and premature infants at the ages of 1 and 7 days and at 1 and 4 months, as well as at 7 months in term infants.
Results : Urinary UA levels were lowest on day 7 in term infants. The levels were highest on day 1 in premature infants and remained significantly higher compared to term babies during the first month of life. Respiratory failure requiring ventilation and oxygen supply resulted in further significant elevation of urinary UA in premature infants.
Conclusions : With the reference values obtained in the study reported here, urinary UA can now be used for the diagnosis and monitoring of inherited disorders of purine metabolism and for the assessment of oxygen radical insult to sick infants.