High intensity in the globus pallidus on proton and T2-weighted MRI in a case of dentato-ruburo-pallido-luysian atrophy of myoclonus epilepsy type

Although marked atrophy of the tegmentum of the mid-brain is a known computed tomography (CT) and magnetic resonance imaging (MRI) feature in patients with dentato-ruburo-pallido-luysian atrophy (DRPLA), this is the first report of marked high signal intensity of the globus pallidus on proton and T₂-weighted MR images in a patient in the early stage of DRPLA of the myoclonus epilepsy type. We suggest that the globus pallidus may be involved in the early stage of DRPLA of this type. Magnetic resonance imaging is considered to be useful for the early detection of involvement of the globus pallidus and in the clinical diagnosis of DRPLA.     

Regression of plane warts following spontaneous inflammation

This paper describes the clinical and histopathological features in ten cases of spontaneously involuting plane warts. In all, rapid regression occurred after the sudden development of an inflammatory reaction. At an early stage a degenerative change appears in the upper epidermis and the typic features of the warts are masked. At the height of the reaction an intense mononuclear cell infiltrate in the dermis associated with epidermal spongiosis, exocytosis cell necrosis and focal parakeratosis is found. It is suggested that the development of cell mediated immunity may be responsible for spontaneous involution of warts.     

Late onset erythropoietic porphyria

A 51-year-old Japanese man and his 56-year-old sister of consanguineous parents had skin lesions with areas of dark-brown pigmentation and blisters with minimal trauma on sun-exposed skin which resembled those seen in porphyria cutanea tarda. Their fresh urine was wine-red in colour and fluoresced with ultraviolet light. The peripheral blood contained fluorocytes and porphyrin analysis of the red blood cells, urine and faeces of the patients revealed an increase of the isotype I of uro- and coproporphyrin and normal concentrations of delta-aminolaevulinate and porphobilinogen, suggesting the diagnosis of erythropoietic porphyria. No other members of this family had symptoms or biochemical findings suggestive of porphyria. We consider these two cases to be that of late onset erythropoietic porphyria.     

Gene expression changes in a patient presenting nonleukaemic nasal granulocytic sarcoma to acute myelogenous leukaemia using 40 K cDNA microarray

This is a case report of granulocytic sarcoma occurring as a nasal lesion prior to the onset of acute myelogenous leukaemia (AML). To understand this case in more detail, we used 40 000 human cDNA microarray to identify the gene expression patterns of nonleukaemic stage bone marrow (BM), AML stage BM and AML stage peripheral blood cells and subsequently define the molecular basis of this disease progression. Of significance, we have tracked the expression profile of BM samples during the course of nonleukaemic to leukaemic progression, and identified a number of genes that may account for the growth potential of leukaemia cells and indicate poor prognosis of this case.     

The epitope for anti-type VII collagen monoclonal antibody (LH7:2) locates at the central region of the N-terminal non-collagenous domain of type VII collagen

The monoclonal antibody LH7:2, which recognizes type VII collagen, is now used in the diagnosis and prenatal diagnosis of epidermolysis bullosa dystrophica. We constructed the expression vector which contains the cDNA fragment of type VII collagen. Western blot with LH7:2 was carried out with the resultant fusion proteins which overlap each other, and we found that reactivity is located in the central region of the N-terminal non-collagenous domain of type VII collagen, at a position 81 kDa upstream from the collagenous domain. This epitope mapping for LH7:2 may be useful in studying the role of type VII collagen in epidermolysis bullosa dystrophica.     

Histamine content, synthesis and degradation in human nasal mucosa

Histamine content and enzyme activities of histamine metabolism, histidine decarboxy-lase (HDC), histamine N-methyltransferase (HMT) and histaminase (diamine oxidase, DAO) in human nasal mucosa were determined with a highly sensitive and specific fluorescent method which was combined with high performance liquid chromatography. Histamine content and HDC activity were determined in 10 specimens of nasal polyp, nine specimens of maxillary sinus and five specimens of inferior turbinate. HMT and histaminase activities were determined in 15 specimens of nasal polyp, nine specimens of maxillary sinus and five specimens of inferior turbinate obtained during surgical therapy. Histamine and activities of HDC, HMT and histaminase were detected in all specimens except the case of histaminase activity in one specimen of nasal polyp. The mean values of histamine content and activities of HDC, HMT and histaminase of human nasal mucosa were 137.3 nmol/g wet weight, 26.3 fmol/min/mg protein, 26.4 pmol/min/mg protein and 0.5 pmol/min/mg protein, respectively. Histamine content in the mucosal tissue of the maxillary sinuses was significantly higher than that of nasal polyps or inferior turbinates. There were no significant differences in HDC activities among three kinds of nasal mucosa. Activities of HMT and histaminase, including their kinetic constants (Km and Vmax values for histamine) indicated that HMT has a greater potential than histaminase for histamine degradation in the human nasal mucosa. The presence of these enzymes suggests that these activities constitute an important modulating factor in histamine mediated allergic and inflammatory reactions in human nasal mucosa.     

Hand-assisted laparoscopic radical nephrectomy using intraoperative ultrasonography for left renal cell carcinoma involving a level I renal vein tumor thrombus

This report concerns two male patients, 65 (case 1) and 72 (case 2) years old, with a left renal tumor involving a level I renal vein tumor thrombus, who underwent hand-assisted laparoscopic radical nephrectomy using intraoperative ultrasonography. With the patient in the flank position, a midline supraumbilical hand port and two other ports were placed. Intraoperative ultrasonography identified the extent of the tumor thrombus. After hilar control, complete resection with intact removal was performed. Surgery lasted 305 min for case 1 and 237 min for case 2, with respective estimated blood loss of 410 mL and 572 mL. No postoperative complications occurred. Pathological examination showed a clear cell carcinoma with a level I tumor thrombus and negative surgical margins. Because the ultrasound probe can be easily inserted and the specimen can be extracted safely and intact, hand-assisted laparoscopic radical nephrectomy is practicable and effective for left renal cell carcinoma involving a level I renal vein tumor thrombus.     

Health-related quality of life after chemotherapy for advanced germ cell tumors: A comparison of standard-dose and high-dose chemotherapy

BACKGROUND: The objective of this study was to evaluate the health-related quality of life (HRQoL) in patients with germ cell tumors who received standard-dose chemotherapy or high-dose chemotherapy combined with peripheral blood stem cell transplantation (PBSCT), and to compare the HRQoL of these patients with patients who had undergone surveillance therapy only. METHODS: Among the 102 patients included in this study, 38 underwent standard-dose cisplatin-based combination chemotherapy alone, 24 received high-dose chemotherapy with PBSCT following standard-dose chemotherapy, and 40 underwent surveillance monitoring. HRQoL was evaluated using the SF-36 survey, which contains 36 questions that assess eight quality-of-life aspects, including physical functioning, role-physical functioning, bodily pain, general health, vitality, social functioning, role-emotional functioning and mental health. RESULTS: The follow-up period of the surveillance group was significantly longer than that of the remaining two groups receiving chemotherapy; however, scale scores were not affected by the duration of follow up in either group. No significant difference was observed in any scale scores between the patients undergoing chemotherapy and those in the surveillance group. In comparison with the general population in the USA, social functioning in both the chemotherapy and surveillance groups was significantly lower, whereas vitality in these two groups was significantly higher. Patients undergoing standard-dose chemotherapy alone had a significantly higher score for mental health than those undergoing high-dose chemotherapy. However, there were no significant differences in the remaining seven scores, irrespective of the type of chemotherapy. CONCLUSIONS: Seven of the eight scale scores of HRQoL were favorable in patients who received chemotherapy or surveillance, and no significant difference was observed between these two groups. Moreover, with the exception of the mental health score, HRQoL was not significantly affected by the type of chemotherapy. Therefore, patients who received chemotherapy, including high-dose chemotherapy with PBSCT, seem to be generally satisfied with their overall HRQoL.