Transient galactosemia detected by neonatal mass screening

BACKGROUND: The Paigen method has detected not only persistently galactosemic patients, but also many children with transient galactosemia during the neonatal period. The diagnosis and clinical course of 389 patients with transient galactosemia detected by neonatal mass-screening from 1986 to 1996 in the Hiroshima prefecture were evaluated. METHODS: Enzyme assays for galactose metabolism, measurement of blood galactose levels, erythrocyte galactose-1-phosphate levels, serum total bile acid (TBA) levels and liver function tests were performed at the first visit by patients to our hospital. Liver function and the mental and physical development of patients were evaluated during the follow-up period (approximately 1 year). RESULTS: The diagnoses were classified as follows: 253 patients with unknown cause, 128 heterozygotes and two homozygotes for galactose enzyme deficiency (galactose-1-phosphate uridyltransferase, galactokinase, UDP-galactose 4-epimerase) and six heterozygotes for Duarte variant. Twelve patients showed high serum levels of TBA (> 80 mumol/L), which suggests the presence of portal-systemic shunts during the neonatal period causing galactosemia. Most patients showed normal mental and physical development during infancy. However, of 25 patients with mild to moderate abnormal liver function tests of unknown etiology after the neonatal period, five showed poor weight gain coincident with liver dysfunction. In almost all patients, levels of transferase decreased to the normal range by 1 year of age. CONCLUSION: We found that the prognosis of transient galactosemia was almost always favorable. However, patients should be followed for at least 1 year, because late liver dysfunction, which might cause poor weight gain, occurred in 6% of our patients.     

Synthesis and receptor binding characteristics of [d-Ala2, cysteamine5]enkephalin,a thiol-containing probe for structural elements of opiate receptors

For the elucidation of structural elements in the opiate receptors, a thiol-containing enkephalin analog, [d -Ala², cysteamine⁵]enkephalin, and its dimeric analog were synthesized and evaluated in the radio-ligand receptor binding assays using rat brain membranes. The dimeric analog was very potent in both delta and mu assays. Comparison of receptor affinities of the thiol-containing enkephalin with those of standard mu or delta receptor specific ligands suggested that the mu receptor contains an essential thiol group which may interact with the thiol group at the C-terminus of the enkephalin analog. It also appears that no metal-ion site, postulated for the delta receptors, is present in the delta binding site.     

Antibodies to hepatitis C virus and elevated transaminase levels in a town of hyperendemicity in Iwate, Japan

In an annual survey for liver function tests in persons aged > xs35 years in Iwate Prefecture, Japan, a town was identified where high levels of alanine aminotransferase abounded. Of 5152 inhabitants aged > 35 years in this town, antibodies to hepatitis C virus (HCV) determined by enzyme-linked immunosorbent assay with HCV core peptides were detected in 798 (15.5%) people, hepatitis B surface antigen was detected in 47 (0.9%) people and antibodies to hepatitis B surface antigen and/or hepatitis B core antigen unaccompanied by surface antigenaemia were detected in 1748 (33.9%) people. Antibodies to HCV core peptides correlated closely with the antibodies detected by passive haem-agglutination with recombinant HCV proteins of the second generation. Antibodies to HCV core peptides were particularly common in one of the nine districts of the town (district 8), where 276 (45.3%) of 609 inhabitants tested positive; there were no differences in the frequency of serological markers of hepatitis B virus (HEV) infection among residents in the nine districts. Of the 798 individuals with antibodies to HCV core peptides, 257 (32.2%) were found to have elevated transaminase levels. A history of transfusion was associated with a high frequency of antibodies to HCV core peptides, except in district 8 where such antibodies were equally frequent in residents irrespective of transfusions. These results indicate an epidemiology of HCV distinct from that of HBV in this town and a very local spread of HCV, as well as a high frequency of hepatic injuries in individuals with antibodies to HCV.     

Long-term results of living kidney transplantation from HLA-identical sibling donors under calcineurin inhibitor immunosuppression

BACKGROUND: Recently, it has been revealed that alloantigen-independent causes are important factors for late graft loss in kidney transplantation. We compared the results of living kidney transplantation from HLA-identical siblings with those from HLA-non-identical siblings to analyse the impact of alloantigen-independent factors on long-term graft survival. METHODS: Two hundred and sixty-six recipients who were grafted from their siblings between 1983 and 2002 were subdivided into those transplanted from HLA-identical donors (n=86) and those from HLA-non-identical donors (n=180). RESULTS: The incidence of acute rejection was significantly lower in the HLA-identical group than in the HLA-non-identical group (9.3% vs 53.9%, respectively; P<0.0001). Graft survival was significantly higher in the HLA-identical group than in the HLA-non-identical group (91.3% vs 79.2% at 5 years, 80.3% vs 66.8% at 10 years and 59.1% vs 51.7% at 15 years, respectively; P=0.0372). Although acute rejection was not seen as a cause of graft loss in the HLA-identical group, death with functioning graft, recurrence of the original disease or chronic allograft nephropathy were observed as the major causes of graft loss in the late period of the HLA-identical group. CONCLUSION: We concluded that alloantigen-independent causes constitute a crucial factor for graft loss in the late period of HLA-identical kidney transplantation.     

Relation between serum hepatitis C virus-RNA levels and efficacy of interferon-β therapy

We performed two courses of interferon-β (IFN-β) to a child with chronic hepatitis C. A complete response was not obtained by the first interferon treatment, however, the results of the second treatment differed from those of the first. Hepatitis C virus (HCV)-RNA remained negative and both aspartate aminotransferase and alanine aminotransferase levels remained normal after completion of the second course. From these results we estimated that HCV-RNA levels before IFN therapy could be significantly associated with the efficacy of this treatment. The serum level of HCV-RNA was 10⁶ copies/50 μL before the first treatment, but was 10³ copies/50 μL before the second course. We conclude that IFN therapy to children with hepatitis C should always be directed at providing a cure. Even if the clinical effects of the first course are minimal decreasing quantities of HCV-RNA still offer hope for cure by subsequent readministration.     

A Study on Time- and Radiation-dependent Changes in the Frequency of Lymphocytes with Chromosome Aberrations in the Circulation, Following Multiple Exposures of the Pelvis to ggr-Irradiation

Unstable chromosome aberrations ofperipheral lymphocytes were observedduring the course of radiotherapy in patients with cervical cancer. They did notincrease monotonously with repeated exposures, but a plateau was observedaround the second week of treatment.Similar tendencies were observed in both72-hour and 50-hour culture experiments, although the number of abberrations was lower in the former. Thedistribution of numbers of dicentrics percell fitted well the Poisson patternthroughout the period of observation.Peripheral lymphocyte counts reached alow plateau before the fifth exposure,and dropped again in the third week.It was speculated that the "member exchange" and/or mobilization of lymphocytes caused the nonlinear increase inchromosome aberrations.

Submitted on December 7, 1969 Accepted on January 22, 1970     

Usefulness of the Noncontact Mapping System to Elucidate the Conduction Property for the Treatment of Common Atrial Flutter

Background: The functional role of the cavotricuspid isthmus (CTI) for common atrial flutter (cAFL) remains to be elucidated. In the present study, we examined whether the EnSite system (St. Jude Medical, St. Paul, MN, USA), a noncontact mapping system, is useful to evaluate the conduction properties of CTI to minimize radiofrequency (RF) ablation applications for cAFL. Methods: We enrolled 22 consecutive patients with cAFL (64.1 ± 9.5 years old, M/F 21/1) treated with the EnSite system and examined the conduction properties during cAFL and during atrial pacing. In addition, the effectiveness of the system was evaluated in comparison with the conventional ablation group (67 ± 8.9 years old, n = 15, M/F 13/2). Result: In 11 out of the 22 patients, CTI block line was achieved by fewer RF applications on a presumed single activation pathway which the EnSite system showed (point ablation [PA] group), and the remaining 11 patients needed additional linear ablation (additional ablation [AA] group). The number of RF applications in the PA group was significantly smaller than that in the conventional group. During the lower lateral right atrial pacing at a cycle length of 600 ms, the CV of the CTI in the PA group was smaller compared to that in the AA group (1.36 ± 0.61 vs 2.17 ± 0.66 m/s, P < 0.05), although the CV during cAFL (averaged cycle length 245 ± 34 ms) was not different in both groups. Conclusions: These results indicate that targeting the presumed single line identified by EnSite could be an optional therapy for cAFL RF ablation, and diverse conduction properties in CTI are related to the success rate of this procedure. (PACE 2012;35:1464–1471)