Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. However, the genotype of this disorder is not well-known. We report an infant with LQTS and 2:1 AVB with a mutation of the SCN5A gene (LQT3). In some patients with LQTS and 2:1 AVB, the disorder may be due to mutation of the SCN5A gene (LQT3).

Electrocardiography↗

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Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting.

An infant with persistent hyperinsulinemic hypoglycemia, diffuse nesidioblastosis, and mixed hamartoma of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of Beckwith-Wiedemann syndrome (BWS), is the subject of this report. H19 methylation assay and allelic expression analysis for insulin-like growth factor 2 (IGF2) indicated that the patient was mosaic for paternal isodisomic cells and normal cells in lung tissue, nontumoral liver tissue, tissue from the MHL, and pancreatic tissue. We propose that abundant IGF2 expression during development due to paternal isodisomy resulted in hepatomegaly and islet cell hyperplasia, which led to nesidioblastosis. MHL, by contrast, may have resulted from a decrease in disomic cells, compared with nontumoral liver tissue, which showed an increase in disomic cells. Thus, somatic mosaicism may result in unbalanced tissue growth, which may contribute to the formation of MHL in BWS.

Allelic Imbalance↗

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Significance of portal venous flow in graft regeneration after living related liver transplantation.

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Adult↗

PubMedDate not supplied

High mortality and shortened life-span in patients with itai-itai disease and subjects with suspected disease.

A follow-up study was conducted from 1967 to 1987 for patients diagnosed as having itai-itai disease, subjects who were suspected of having the disease, and controls. Ninety-five subjects per category were selected after matching for age, sex, and residential area. The cumulative survival rate of the patients who had a definite diagnosis of itai-itai disease was significantly lower than that of the control group in every period after the first 3 y. The cumulative survival rate of the subjects who were suspected of having itai-itai disease and who had severe renal dysfunction due to cadmium pollution was significantly lower than that of the control group. These results demonstrate (1) the enduring negative influence of itai-itai disease on prognosis and (2) that the cadmium pollution-induced renal disorder adversely affects the health of the inhabitants of a cadmium-polluted area.

Aged↗

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Urinary beta 2-microglobulin concentration and mortality in a cadmium-polluted area.

A 9-y follow-up study of 3,178 persons who lived in a cadmium-polluted area was conducted to assess the influence of environmental cadmium exposure on long-term outcome. The standardized mortality ratios of the urinary beta 2-microglobulin-positive subjects (> 1,000 micrograms/g creatinine) of both sexes were higher than those of the general Japanese population, whereas the cumulative survival curves were lower than those of the urinary beta 2-microglobulin-negative group. A significant association was also found between urinary beta 2-microglobulin and mortality, using a Cox's proportional hazards model. Moreover, mortality rates increased in proportion to increases in the amount of urinary beta 2-microglobulin excreted. These results suggest that the prognosis for cadmium-exposed subjects with proximal tubular dysfunction is unfavorable. The mortality rate tended to become higher as the severity of renal dysfunction progressed.

Aged↗

PubMedDate not supplied

Transient increase in cerebral blood flow in a patient with Sturge-Weber syndrome.

We report the case of an infant with Sturge-Weber syndrome whose regional cerebral blood flow (rCBF) showed an increase and a subsequent decrease. As compared with simultaneous CT and MR findings, we speculate that the transient increase in rCBF reflects the neuronal reaction to hypoxia caused by congestion.

Brain↗

PubMedDate not supplied

MR imaging of non-CNS fetal abnormalities: a pictorial essay.

The recent popularity of prenatal magnetic resonance (MR) imaging has been associated with the development of ultrafast MR imaging techniques such as the single-shot fast spin-echo sequence. However, the majority of previous reports have concerned the fetal central nervous system (CNS) and chest disorders. MR imaging can demonstrate non-CNS fetal anatomy and pathologic conditions clearly. With its excellent tissue contrast, MR imaging provides information that supplements that provided by ultrasonography (US), especially in cases of neck, chest, and gastrointestinal lesions. Because of its large field of view, MR imaging allows evaluation of the relationship between a large lesion and adjacent structures. MR imaging should be considered if the diagnosis of a suspected non-CNS lesion is unclear at fetal US. MR imaging plays an important complementary role to US in cases of non-CNS fetal lesions and will be further accepted for fetal imaging in the future.

Abdomen↗