Patients Of Japanese Descent Research Articles

Sociodemographic, cultural, linguistic, and test selection considerations for clinical neuropsychological assessment with Japanese and Japanese-American patients in the United States

Objective: Japanese-Americans are the sixth largest Asian ethnicity in the United States and represent a highly heterogeneous population. Despite representing a large and diverse group, relatively little attention has been paid to clinical best practices for working with this population in the West, particularly for Japanese speakers and issei (first-generation in the United States). This paper offers guidance for providing competent neuropsychological services to Japanese-Americans. Method: Pertinent facets of Japanese culture are presented within the context of the ECLECTIC framework (education and literacy, culture and acculturation, language, economics, communication, testing situation: comfort and motivation, intelligence conceptualization, and context of immigration; Fujii, 2018). The available literature on clinical neuropsychological tests that are translated into Japanese and normed with Japanese samples was reviewed. Results: Specific recommendations for clinicians providing neuropsychological services to Japanese-Americans are presented with an aim of maximizing test fairness by addressing the following issues: comfort with the testing situation, test biases, accessibility, and validity (American Educational Research Association et al., 2014). Additional recommendations for the use of teleneuropsychology; working with geriatric, pediatric, and multiracial populations; and providing useful recommendations and feedback from clinical assessment are provided. Measures that are appropriately translated and/or adapted for use with Japanese populations are presented by cognitive domain to assist clinicians with test selection. Conclusions: This paper provides concrete recommendations for Western neuropsychologists working with patients of Japanese descent in order to address the current gap in cultural competence among clinicians when working with this heterogeneous population.

GCT-67. CENTRAL NERVOUS SYSTEM GERMINOMA IN TWO CAUCASIAN AMERICAN SIBLINGS WITH AUTISM SPECTRUM DISORDER

BACKGROUNDCentral nervous system germ cell tumors (CNS-GCT) account for approximately 5% of all pediatric brain tumors. These tumors are pathologically heterogeneous, but have recurrent somatic mutations in KIT and rare germline variants in a Japanese cohort. Chromosomal abnormalities, specifically Klinefelter Syndrome, are associated with increased tumor development and familial cases have been reported, but no germline tumor syndromes are known. We describe a pair of siblings, both with autism spectrum disorder (ASD) that developed CNS-GCT, which previously has not been described outside of Japan. CASES: We report two siblings with ASD who developed CNS germinomas within two months of each other. The older brother, with basal ganglia and hypothalamic tumors, underwent surgical resection followed by treatment per ACNS0232 with chemotherapy and whole-ventricular irradiation (WVI). The younger sibling, with a midbrain tumor, also received ACNS0232, but due to poor response required additional chemotherapy and WVI. Both siblings are without evidence of disease 7 years after end of therapy. Genetic testing, including chromosomal microarray, karyotyping, and whole genome sequencing did not elucidate any variant identified as causative at that time.CONCLUSIONSCNS-GCT are rare tumors, diverse in both histopathologic diagnosis and clinical outcomes. Currently there are known somatic alterations and germline chromosomal disorders associated with increased tumor development, but no known inheritable causes. Despite this, familial CNS-GCT have been reported in patients of Japanese descent. The description of two Caucasian American siblings with ASD and CNS-GCT is novel, refuting that familial CNS-GCT are limited to the Japanese population.

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico‐based screening using whole‐genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.

Primary cutaneous plasmacytosis: a case report

Primary cutaneous and systemic plasmacytosis is a rare disorder characterized by infiltration of the skin by polyclonal plasma cells of unknown etiology, frequently accompanied by polyclonal hypergammaglobulinemia and diffuse superficial lymphadenopathy. It primarily arises in patients of Japanese descent, and it is exceedingly rare in Caucasians. We describe a 36-year-old Portuguese male who presented with disseminated reddish-brown plaques over the trunk, neck, and upper limbs with normal gammaglobulinemia consistent with a diagnosis of primary cutaneous plasmacytosis.

Ethnic variations in the occurrence of colonic neoplasms.

With the exception of African Americans and Hispanics, few studies have dealt with the influence of other types of ethnicity on the prevalence of colon polyps and colorectal cancer. The present study was undertaken to compare the ethnic and socioeconomic distributions of colonic neoplasms among different ethnic groups in the United States. A total of 813,057 patients, who underwent colonoscopy during 2008-2014, were recruited from an electronic database of histopathology reports (Miraca Life Sciences) for a cross-sectional study. Using multivariate logistic regression analyses, the presence of hyperplastic polyps, serrated adenomas, tubular adenomas, or adenocarcinomas each served as separate outcome variables. Patient ethnicity was determined using a name-based computer algorithm. Demographic (age, sex, ethnicity) and a variety of socioeconomic risk factors (associated with patients' ZIP code) served as predictor variables. About 50% of the study population harbored adenomatous polyps, 25% hyperplastic polyps, 8% serrated adenomas, and 1.4% adenocarcinomas. Tubular adenomas and adenocarcinomas showed similar ethnic distributions, being slightly more common among Hispanics and East Asians. All four types of colonic neoplasm were relatively rare among patients of Asian-Indian descent and relatively common among patients of Japanese descent. Except for Japanese patients, serrated adenomas tended to be less prevalent among East Asians. In general, markers of high socioeconomic status showed a tendency to be negatively associated with the presence of tubular adenoma and adenocarcinoma, but positively with the presence of serrated adenoma. Ethnicity and socioeconomic factors affect different histology types of polyps differently. Genetic as well as environmental factors interact in the development of colorectal cancer and its precursor lesions.

Graft-Versus-Host Disease and Survival after Cord Blood Transplantation for Acute Leukemia: A Comparison of Japanese versus White Populations

An earlier report identified higher risks of acute and chronic graft-versus-host disease (GVHD) in White children compared with the Japanese after HLA-matched sibling transplantations. The current analysis explored whether racial differences are associated with GVHD risks after unrelated umbilical cord blood transplantation. Included are patients of Japanese descent (n = 257) and Whites (n = 260; 168 of 260 received antithymocyte globulin [ATG]). Transplants were performed in the United States or Japan between 2000 and 2009; patients were aged 16 years or younger, had acute leukemia, were in complete remission, and received a myeloablative conditioning regimen. The median ages of the Japanese and Whites who received ATG were younger at 5 years compared with 8 years for Whites who did not receive ATG. In all groups most transplants were mismatched at 1 or 2 HLA loci. Multivariate analysis found no differences in risks of acute GVHD between the Japanese and Whites. However, chronic GVHD was higher in Whites who did not receive ATG compared with the Japanese (hazard ratio, 2.16; P < .001), and treatment-related mortality was higher in Whites who received ATG compared with the Japanese (relative risk, 1.81; P = .01). Nevertheless, there were no significant differences in overall survival between the 3 groups.

Plasmacytosis: A Wider Range of Histologic Findings

Plasmacytosis, first described in 1976, is a rare disease that primarily affects patients of Japanese descent. The disease includes both cutaneous and

Cutaneous plasmacytosis: Report of 6 cases with or without systemic involvement

Cutaneous plasmacytosis and systemic plasmacytosis are rare entities arising primarily in patients of Japanese descent. The origin and exact pathogenesis are poorly understood. We sought to determine clinicopathologic features of cutaneous and systemic plasmacytosis. We describe the clinicopathologic features of 6 patients with cutaneous plasmacytosis with or without systemic involvement (male:female = 3:1; mean age: 49.7 years; median age: 50.5 years; age range: 29-64 years). Patients presented clinically with multiple, red-brown infiltrated plaques and flat tumors, mainly located on the trunk. Histology revealed in all cases the presence of clusters of mature plasma cells within the dermis. Lymphoid follicles with reactive germinal centers were seen in 3 cases. Five cases showed the expected polyclonal expression of immunoglobulin light chain by the plasma cells, but monoclonality was observed in 1 case, thus showing overlapping features with cutaneous marginal zone lymphoma. One patient revealed overlapping features with multicentric Castleman disease. This was a retrospective study on a relatively small number of patients. Despite typical clinical presentation, some of our patients presented with histopathologic and immunohistochemical features that deviated from the conventional appearance. Our observation confirms and expands previous observations of this elusive entity, suggesting that the spectrum of clinicopathologic presentations may be wider than previously recognized.

Cutaneous and systemic plasmacytosis: A Chinese case

Cutaneous and systemic plasmacytosis (CSP) is an exceedingly rare condition arising primarily in patients of Japanese descent. Herein, we describe a patient of mainland Chinese origin suffering CSP. A 49-year-old Chinese male had asymptomatic brownish-red plaques and papules of the face and trunk for 6 years. Physical examination revealed innumerable symmetric red-brownish macules on face and trunk with fewer red-brownish papules scattered among the macules. Chemical analysis revealed hypergammaglobulinemia. Computerized tomography scan discovered some lymphadenopathy in the axillary, paratracheal and pulmonary regions. Histological examination showed focal perivascular and periadnexal infiltrate of mainly plasma cells in the superficial and deep dermis. Immunohistochemical study showed that a great number of the infiltrating cells were CD20-positive. The infiltrated polyclonal plasma cells expressed both kappa and lambda light chains. Topical therapy with tacrolimus 0.1% ointment for 2 months reduced the thickness and pigmentation of the facial skin lesions. The lesions resumed the original appearance 3 weeks after discontinuing the therapy. To the best of our knowledge, this is the first case of CSP from mainland China.

Cutaneous and systemic plasmacytosis

Cutaneous and systemic plasmacytosis is an exceedingly rare entity arising primarily in patients of Japanese descent. Only 5 non-Japanese cases have been reported in the literature.1-6 This condition is characterized by a cutaneous polyclonal plasma cell infiltrate accompanied by polyclonal hypergammaglobulinemia. Extracutaneous involvement with infiltration of lymph nodes, lungs, liver, spleen, and kidney can occur. We describe a Chinese patient who presented with diffuse reddish-brown macules, hypergammaglobulinemia, and reactive lymphadenopathy, which are hallmarks of this condition.

The molecular basis of glutamate formiminotransferase deficiency.

Glutamate formiminotransferase deficiency, an autosomal recessive disorder and the second most common inborn error of folate metabolism, is presumed to be due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype, first identified in patients of Japanese descent, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. We found mutations in the human FTCD gene in three patients with putative glutamate formiminotransferase deficiency. Two siblings were heterozygous for missense mutations, c.457C>T (R135C) and c.940G>C (R299P). Mutagenesis of porcine FTCD and expression in E. coli showed that the R135C mutation reduced formiminotransferase activity to 61% of wild-type, whereas the R299P mutation reduced this activity to 57% of wild-type. The third patient was hemizygous for c.1033insG, with quantitative PCR indicating that the other allele contained a deletion. These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease.

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis. We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379:436 (46.5:53.5%), which does not support meiotic segregation distortion. To confirm these results, sperm typing analysis was also performed using a polymorphic marker, D14S1050, closely linked to the MJD1 gene. Among 910 sperm analyzed, the allele linked to the disease chromosome was detected in 50.3% of the samples and the allele linked to the normal chromosome was found in 49.6% of the sperm. The difference in frequency of these two alleles is not significant ( P = 0.8423). Likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program also showed no support for segregation distortion at the gamete level in this patient population. The previous report on the Japanese patients also suggested that disease allele stability may be influenced by a trans effect of an intragenic polymorphism (987 G/C) in the wild-type allele. All of the French patients were heterozygous for this polymorphism. However, analysis of the variance in repeat number in sperm from the French MJD patients overlapped significantly with the variance in repeat number observed in the C/C homozygous Japanese patients.