Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.

Acute facial diplegia and hyperreflexia: A Guillain-Barré syndrome variant.

Two patients with acute facial diplegia and hyperreflexia are described. Both patients had serologic evidence of preceding Campylobacter jejuni infection and antiganglioside IgG antibodies as well as other laboratory and electrophysiologic findings suggesting Guillain-Barré syndrome (GBS). IV immunoglobulin produced recovery. Hyperreflexia does not necessarily exclude the diagnosis of a GBS variant. Antiganglioside antibodies can help with diagnosis in difficult cases.

Graph-theoretical analysis of tunneling electron transfer in large polycyclic aromatic hydrocarbon networks.

Effect of a single nitrogen atom substitution to a number of large polycyclic aromatic hydrocarbon (PAH) molecules was calculated systematically, and it was found that especially in parallelogram-type PAH abnormal electron transfer (called tunneling electron transfer, TET) was observed. That is, fairly large amount of pi-electron is withdrawn to an electronegative nitrogen atom from almost the farthest end of a conjugated aromatic hydrocarbon molecule, leaving almost no change in the interior of the molecule. This change can be simulated by the Kekulé structure counting for subgraphs of the parent molecule.

Mental disturbances during isolation in bone marrow transplant patients with leukemia.

The mental status of 39 leukemia patients, who received bone marrow transplants (BMT), was studied during the period of isolation. Mental disorders (diagnosed according to DSM-IV criteria) occurred in 16 patients (41%) during the observation period. The most frequent diagnoses were adjustment disorders, with anxiety and/or depression. Logistic regression analysis suggested higher Tension-Anxiety score in the Profile of Mood States (POMS) prior to isolation (P = 0.011), donation of the bone marrow from unrelated subjects (P = 0.026) and in female patients (P = 0.033). The results are preliminary, but indicate a high frequency of mental disturbances and highlight the importance of psychiatric intervention in BMT patients. Bone Marrow Transplantation (2000) 25, 315-318.

Amount of enterotoxigenic Clostridium perfringens in meat detected by nested PCR.

The incidence and quantity of enterotoxigenic Clostridium perfringens in beef, pork, and chicken meat were determined and compared with that of the total enterotoxigenic and nonenterotoxigenic C. perfringens. The method for the detection and quantification of enterotoxigenic C. perfringens consisted of a combination of the most probable number (MPN) method and a nested polymerase chain reaction after culturing of the sample. The results obtained by this method for inoculated meat samples were significantly correlated with those obtained by the plate count method. When the method was applied to the detection and quantification of enterotoxigenic C. perfringens found in randomly selected meat samples, the organism was found in 2% of the beef pieces (< 10(2) MPN/100 g) and 12% of the chicken pieces (< 10(2)-4.3 x 10(2) MPN/100 g) out of the 50 pieces of each meat tested. No enterotoxigenic C. perfringens was found in pork. Total C. perfringens was found in 16% of the beef (< 10(2)-4.3 x 10(2) MPN/100 g), 10% of the pork (< 10(2) MPN/100 g), and 84% of the chicken (< 10(2)-9.3 x 10(3) MPN/100 g) when 50 pieces of each meat was tested by the conventional MPN method. As shown in the above methods, the majority of cells were not enterotoxigenic cells in the population of C. perfringens. A small number of enterotoxigenic cells of C. perfringens co-existed with a large number of nonenterotoxigenic cells in the same meat sample.

Possibilities and limitations of endoscopic resection for early gastric cancer.

BACKGROUND AND STUDY AIMS: To date, the accepted criteria for endoscopic resection of early gastric cancer have been: a) elevated-type mucosal cancer less than 2 cm in size, and b) depressed-type mucosal cancer without ulceration less than 1 cm in size. In this study, we attempted to expand these indications. PATIENTS AND METHODS: Sixty patients with early gastric cancer who did not meet the above criteria underwent endoscopic treatment, and were divided into four groups: those with elevated tumours larger than 2 cm with submucosal invasion (group 1 a); those without submucosal invasion (group 1 b); those with depressed tumours larger than 1 cm (group 2); and those with ulcerated tumours (group 3). The patients were treated with endoscopic resection using a two-channel scope, followed by additional laser irradiation or heater-probe coagulation (combination therapy) if residual cells were found. Follow-up was by endoscopy and biopsy for more than two years. RESULTS: Endoscopic treatment was effective in 87% of the patients (52 of 60), half of whom required combination therapy. In submucosal cancers, endoscopic treatment was effective in 76% of patients (13 of 17). However, tumours with deep invasion into the submucosa could not be cured. Mucosal cancers larger than 20 mm could be completely resected in 44% of patients (eight of 18) using endoscopic resection, but all five patients with tumours larger than 30 mm had incomplete resections. CONCLUSIONS: These results indicate that complete resection using endoscopic resection alone is possible in early gastric cancers measuring up to 30 mm in diameter. Tumours larger than 30 mm, and those with deep submucosal invasion, cannot be curatively treated by the current endoscopic modalities.

Anaplastic Ki-1-positive large cell lymphoma of the pancreas: a case report and review of the literature.

A case of Ki-1-positive anaplastic large cell lymphoma of the pancreas is presented. The patient complained of abdominal pain and was jaundiced. Examination of a biopsy specimen obtained by duodenal endoscopy revealed malignant lymphoma, and surgery confirmed a large mass located in the region from the intra-pancreatic tissue around the lower common bile duct to the peri-pancreatic lymph nodes. Histologically, this tumor was composed mainly of large and giant neoplastic cells. Immunohistochemically, these cells were diffusely positive for Ki-1 and CD45RO antigens, indicating the features of Ki-1 anaplastic large cell lymphoma with a T-cell phenotype among non-Hodgkin's lymphoma. The histologic types of the majority of malignant lymphomas of the pancreas reported previously were considered to be diffuse-type non-Hodgkin lymphoma (probably with predominance of the B-cell phenotype), except for a single Japanese lymphoma case with a T-cell phenotype. This is therefore the first known case of Ki-1 anaplastic large cell lymphoma of the pancreas.

Most probable number method combined with nested polymerase chain reaction for detection and enumeration of enterotoxigenic Clostridium perfringens in intestinal contents of cattle, pig and chicken.

The most probable number (MPN) method combined with a nested polymerase chain reaction (nested PCR) for the detection and enumeration of enterotoxigenic Clostridium perfringens in the intestinal contents of cattle, pig and chicken was examined. Ten-fold serial dilutions of samples were added to three tubes of enrichment medium, which were incubated at 37 degrees C for 20-24 hr, and the C. perfringens enterotoxin gene was detected by nested PCR from the enrichment culture without isolating the organism. The results obtained by this method with artificially contaminated intestinal contents were significantly correlated with those obtained by a plate count method. When the method was applied to the detection and enumeration of indigenous enterotoxigenic C. perfringens, the organism was found in two, two and three samples of 10 intestinal contents of cattle, pig and chicken, respectively. Most of the positive samples contained fewer than 10 MPN/g of enterotoxigenic C. perfringens, except one sample of chicken, which contained 1.5 x 10(2) MPN/g. The MPN method combined with nested PCR is easy to perform and may be a useful tool for the detection and enumeration of enterotoxigenic C. perfringens in intestinal contents.

Modulation of in vivo immune response by selective depletion of neutrophils using a monoclonal antibody, RP-3. I. Inhibition by RP-3 treatment of the priming and effector phases of delayed type hypersensitivity to sheep red blood cells in rats.

Recent studies on neutrophils have revealed that these cells produce various cytokines, and may be involved in regulation of the immune response. We examined whether neutrophils are involved in delayed type hypersensitivity (DTH) to SRBC in rats by selective depletion of in vivo neutrophils using a mAb designated RP-3. When the rats had been treated with RP-3 at the time of priming with SRBC, DTH to these cells was inhibited. Furthermore, RP-3 treatment was effective in inhibiting the effector phase of the DTH response to SRBC. When spleen cells from rats that had been treated with RP-3 at the time of immunization were used for local transfer of DTH, footpad swelling was significantly less than that induced by spleen cells from the RP-3-untreated immune rats.

A novel tumor-associated protein: clinical significance of serum levels in various clinical conditions with special reference to gynecological malignant diseases.

A novel tumor-associated protein (TAP), that was originally detected immunologically through the use of a monospecific antiserum against a placental antigen, was quantified by means of the rocket technique of Laurell. Four hundred and fifty-seven serum samples were obtained from healthy female subjects (55), and patients with leiomyomas (162), benign ovarian tumors (78), pelvic endometriosis (45), cervical cancer (73), endometrial cancer (18) and ovarian cancer (26), respectively. Statistical analysis showed that TAP exhibited the closest relationship in ovarian cancer patients in whom the appearance of TAP and its high level were most prominent. The present preliminary study suggests the clinical usefulness of this protein as a clinical adjunct for the management of ovarian cancer.

A case report of juvenile polyposis with adenomatous change and a review of 34 cases reported in Japan.

It has recently come to be thought that cases of juvenile polyposis have a natural tendency to develop adenoma and/or carcinoma. Here we present a case of juvenile polyposis coli with adenomatous change in a 21-year-old male, with a review of 34 cases of juvenile polyposis in the Japanese literature, and discuss the pathogenetic development of the polyps and their malignant potential. In this case, focal or entire adenomatous areas were found in large part of the polyps in the resected sigmoid colon and rectum, though these findings had not been recognized in 23 polypectomy specimens from the rectum 10 months prior to the operation. It was suggested that adenomatous change developed quickly in a very short time.

Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases.

We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosaic or non-mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non-mosaic trisomy 18 for pigmentary dysplasias.

Quantitative analysis of a novel pregnancy-associated protein in trophoblastic diseases, normal pregnancy and healthy female subjects.

By means of the Laurell rocket technique, a novel pregnancy-associated protein was measured in the serum of patients with trophoblastic diseases as well as in pregnant women. In 52 normally-menstruating women, the serum levels were below the detection limit in 40 (76.9%); 50 women (96.2%) had levels of less than 2.0 U/ml, and none had levels above 2.1 U/ml. Of 25 patients with a hydatidiform mole, 23 (92.0%) had elevated levels (greater than 2.2 U/ml). In 84 healthy pregnant women, the levels rose from being undetectable before 5 weeks to a plateau in the second trimester. The results suggest that the appearance of this protein in serum is associated with trophoblastic activity.