Presenting symptoms and natural history of Wilson disease

The presenting symptoms of Wilson disease and its natural history as related to age are described based on 283 cases collected in Japan. The disease presented with a variety of signs and symptoms; the most frequent were in order of frequency jaundice, dysarthria, clumsiness, tremor, drooling, gait disturbance, malaise and arthralgia. The mean age at onset of the disease was 12.0 years. Hepatic and osteoarthral symptoms developed early and neurological symptoms late. Fifty-eight cases develolped neurological symptoms only, 28 cases had hepatic symptoms only, and in 26 cases hepatic mortality rate was observed in hepatic, hepato-haematological and hepato-renal cases mainly due to acute hepatic failure resulting in death only a few weeks after onset. Cases having only neurological symptoms showed a more favourable prognosis with a longer survival.     

Differential expression of the beta I- and beta II-PKC subspecies in the postnatal developing rat brain; an immunocytochemical study.

Differential expression of protein kinase C subspecies, beta I- and beta II-PKC, derived from a single gene by alternative splicing was evidenced in the postnatal developing rat brain. Immunoblot analysis of the PKC subspecies in the whole developing brain showed that beta I-PKC was present at birth and then gradually increased, while beta II-PKC was not present at birth or on postnatal day 3, then increased rapidly from day 7 to the maximum value seen in the adult brain. Under light microscopy, beta I-PKC immunoreactivities seen at birth were the most intense in the brainstem and intense in the diagonal bundle and globus pallidus. beta I-PKC immunoreactivities in these neurons weakened from day 7 and disappeared in the adult brain, while in the cerebral cortex, triangular septal nucleus and pontine nucleus beta I-PKC immunoreactivities were week at birth and then gradually increased. beta II-PKC immunoreactivities were first visible in neurons on day 7 and increased progressively. beta I- and beta II-PKCs were not co-localized in a neuron, as far as examined. The immunoreactivities of beta I-PKC at birth were localized in growth cone-like structures as well as in the dendrites and perikarya. Similarly, alpha-PKC was also present at birth in the growth cone-like structure. Immunoblot analysis revealed that beta I-PKC was present at birth in the growth cone-rich fraction from the hindbrain but not in that from the forebrain, while alpha-PKC was found in the growth cone-rich fraction from both the forebrain and the hindbrain. beta II- and gamma-PKC were not detected in the growth cone-rich fraction from either forebrain or hindbrain. These findings suggest that beta I- and beta II-PKC play a role in different stages of development and in different neurons; both beta-subspecies may be involved in postnatal developing neuronal functions while only beta I-PKC plays functional roles in the growth cone, in the prenatal developmental stage.     

Cystic radiolucencies of carpal bones, distal radius and ulna as a marker for dialysis-associated amyloid osteoarthropathy.

Patients on long-term hemodialysis (HD) are known to develop amyloid osteoarthropathy, evidenced as cystic radiolucencies on X-rays of the affected joints. To study the relationship between cystic radiolucencies and amyloid osteoarthropathy in 394 patients, we classified the severity of the cystic radiolucencies seen in the wrist joint on a 4-point scale and evaluated the association between lesion severity (grade) and several parameters. Biopsy was performed in 8 patients with 11 bone cysts of the wrist joint who had been operated for carpal tunnel syndrome. HD for 10 years or longer, age 50 or older and the presence of carpal tunnel syndrome were associated with severe cyst rating. There was no association between lesion grade and serum level of PTH-C, aluminum or beta 2-microglobulin (B2M). Ten of the 11 biopsied bone cysts in 8 patients with carpal tunnel syndrome demonstrated amyloid deposits which reacted with B2M. We conclude that a cystic radiolucency observed in the wrist joint of a patient undergoing HD indicates the deposition of amyloid. The cyst grade provides a useful marker for the severity of amyloid osteoarthropathy in HD patients.     

Lectin histochemistry in mucinous and serous ovarian neoplasms.

The lectin-binding properties of 44 cases of serous and mucinous ovarian cystadenoma, tumor of low malignant potential (LMP), and invasive carcinoma were examined histochemically. Wheat germ agglutinin (WGA), concanavalin A (con A), Ulex europaeus agglutinin I (UEA-I), peanut agglutinin (PNA), Ricinus communis agglutinin I (RCA-I), soybean agglutinin (SBA), and Robina pseudoaccacia (RPA) were employed. All the lectins examined were bound to neoplastic epithelial cells of benign and malignant tumors, but none bound exclusively to ovarian tumor cells. Different lectin-binding patterns between serous and mucinous neoplasms were observed, with the exception of RPA. UEA-I, con A, RPA, and PNA in serous neoplasms and UEA-I, RPA, and WGA in mucinous neoplasms demonstrated lectin-binding properties of LMP tumors intermediate between those of cystadenoma and invasive carcinoma. These findings indicate that serous and mucinous ovarian neoplasms contain different glycoconjugates, that malignant transformation of the neoplasms is associated with alteration of these glycoconjugates, and especially that LMP tumors have a different composition of cellular glycoconjugates from that of invasive ovarian carcinoma.     

Comparative in vitro and in vivo activity of rifabutin and rifampicin against Mycobacterium avium complex

In vitro antimicrobial activity of rifabutin and rifampicin against various mycobacteria, including the Mycobacterium avium complex, was evaluated by the agar dilution method, using 7H10 agar medium. The activity of rifabutin based on MIC50 and MIC90 was higher than that of rifampicin, against all the acid-fast organisms tested. Microbicidal activity of rifabutin against the M. avium complex phagocytosed in mouse peritoneal or alveolar macrophages was greater than that of rifampicin. Both rifabutin and rifampicin had therapeutic effects against murine infections induced by M. avium complex. Rifabutin was somewhat more effective than rifampicin in mice.     

Influence of the mother-child relationship on the development of the Type A Behavior Pattern

Investigation of the Type A Behavior Pattern (TABP) of pre-school children was conducted to determine the influence of the mother-child relationship on the development of TABP. The incidence of TABP was 44.2% (51.7% in boys and 38.7% in girls). The TABP tendency of the boys decreased as the manifest dissension or conflict in the family grew, in marked contrast with the tendency seen in girls, suggesting that conflict in the family can either weaken or reinforce TABP.