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Biomedical subjects

A Fujimoto

Publications and source records attributed to A Fujimoto.

At least 55 records · Page 3Linked to original sources
PubMed1998

Comparison of genetic profiles between primary melanomas and their metastases reveals genetic alterations and clonal evolution during progression.

To examine for the genetic basis of metastatic progression in cutaneous melanoma, we have compared loss of heterozygosity (LOH) of several selected chromosome regions that are implicated in the initiation and progression of melanoma, and alterations of the p16INK4a gene in 14 pairs of primary tumor and synchronous or asynchronous metastasis excised from the same patients. The most frequent genetic alteration during metastatic progression detected was the loss of p16INK4a protein expression (four of 14 cases), whereas no somatic p16INK4a gene mutations were found in any primary or metastatic tumors. LOH analyses showed that most of the chromosome losses including 6q, 8p, 9p, 9q, and 18q were shared between primary tumors and their metastases. Nevertheless, LOH of 6q and 11q and LOH of 7q not detected in primary tumors were, respectively, observed in two lymph node metastases. These results suggest that loss of p16INK4a protein expression (but not p16INK4a gene mutation) and the losses of chromosome arms 6q, 7q, and 11q play an important role in the acquisition of metastatic potential in sporadic melanoma. Furthermore, comparison of genetic profiles between the primary tumor and its metastasis revealed in several cases that heterogenous tumor cell populations might already exist at the early stage of tumorigenesis and evolve independently in the primary tumor and its metastasis, strongly suggesting that metastatic progression of sporadic melanoma is not accounted for by a linear progression model.

Adult↗
PubMed1998

Mouse Brachyury the Second (T2) is a gene next to classical T and a candidate gene for tct.

The mouse Brachyury the Second (T2) gene is 15 kb away from classical Brachyury (T). A mutation in T2 disrupts notochord development, pointing to the existence of a second T/t complex gene involved in axis development. T2 encodes a novel protein that is disrupted by an insertion in T2(Bob) mice. Sequence analysis of T2 from several t haplotypes shows that they all share the same changed stop codon, and, thus, T2 is a candidate gene for the t complex tail interaction factor. T1, T2, and the unlinked t-int are distinct and unrelated loci, and mutations in these genes do not complement one another genetically. Either their products interact in the same pathway during the genesis of the embryonic axis, or the T/t region itself is truly complex.

Amino Acid Sequence↗
PubMed1998

A case of pedunculated tubulovillous adenoma of the duodenum.

Tubulovillous adenoma of the duodenum is a rare tumor. Almost all of the lesions have been reported endoscopically and are recognized as small, sessile, polypoid lesions. This article discusses an unusual case of pedunculated tubulovillous adenoma of the duodenum in a 48-yr-old woman. The lesion was discovered on the upper part of the descending duodenum during a gastric mass survey. The polyp was removed using an electrocautery snare and was histologically diagnosed as tubulovillous adenoma.

Adenoma, Villous↗
PubMed1997

Cell cycle-dependent phosphorylation of p27 cyclin-dependent kinase (Cdk) inhibitor by cyclin E/Cdk2.

The cyclin-dependent kinase (Cdk) inhibitor p27 interrupts progression of the cell cycle by inhibiting various cyclin/Cdk activities. Since the protein level of p27 does not correlate with its mRNA level or protein synthesis rate in most cases, it is suggested that degradation of the protein may be regulated via an unidentified mechanism(s) involving a post-translational modification(s). We present evidence here that p27 phosphorylation is cell cycle-dependent and peaks in the late G1 phase and that the level of p27 protein is inversely correlated with its phosphorylation. Although both cyclin D1- and cyclin-E-dependent kinases are active in the late G1 phase in human fibroblasts, cyclin E/Cdk2 specifically phosphorylates p27 on threonine-187 in vitro. Interestingly, ectopic expression of T187A revealed that it was far more stable in vivo than wild type p27. Thus, phosphorylation of p27 by cyclin E/ Cdk2 may affect the stability of its protein and play a role in how the protein functions.

Amino Acid Substitution↗
PubMed1997

Intestinal malrotation in a child with cardio-facio-cutaneous syndrome.

We present a child with cardio-facio-cutaneous (CFC) syndrome with inadequate weight gain due to inadequate food intake. After correction of hyperemesis due to intestinal malrotation, she continued to fail to feed due to poor suck reflex. A review documented digestive system findings in 26 of 57 reported patients with CFC syndrome. Thus, digestive system dysfunction and malformation may represent an additional manifestation of the CFC syndrome.

Face↗
PubMed1997

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the amino-terminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30 weeks of gestation following premature rupture of membranes. He had wide fontanelles, prominent eyes with swollen eyelids and blue sclerae, anteverted nostrils, micrognathia, umbilical hernia, short stubby fingers, and cutis laxa with hirsutism. At age 3 months, during the repair of the umbilical hernia, he was noted to have unusual skin fragility. Examination of skin by scanning electron microscopy showed frayed collagen fibrils, and transmission electron microscopy showed the hieroglyphic collagen fibril morphology characteristic of the disorder. As reported in other cases, cultured fibroblasts synthesized type I procollagen that was very poorly processed at the amino-terminal propeptide cleavage site. the 5 known cases of human EDS type VIIC characterize a distinct clinical phenotype, making this condition recognizable at birth before manifestation of severe skin fragility. The diagnosis can be confirmed by biochemical studies of type I procollagen synthesis and by electron microscopic examination of skin.

Adolescent↗
PubMed1997

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins studied by SSCP and sequencing analysis. Sixteen mutations were detected, including 14 new mutations (11 missense, one premature termination, one splice site alteration, and one cryptic site alteration). The donor splice site mutation (IVS4 + 1G-->A) predicts that normal splicing will be abolished and that translation would lead to an immediate premature termination (W141X). Another novel nucleotide change outside the coding sequence is an intronic alteration (IVS9-42C-->T:ggtcggtgcggttggtgc) creating a potential cryptic donor site. The nucleotide sequence surrounding this alteration is highly suggestive of a consensus donor splice site. All 12 missense and nonsense mutations were shown by transient expression to abolish or greatly reduce GALNS activity, thereby providing an explanation as to why they produce MPS IVA. All mutations were readily confirmed by restriction enzyme or by allelic specific oligonucleotide analysis (ASO). These findings, coupled with previously reported mutations, bring the total of different mutations to 41 among independent families with MPS IVA, illustrating the extensive allelic heterogeneity among mutations producing MPS IVA.

Chondroitinsulfatases↗
PubMed1997

Computed tomographic study of aged schizophrenic patients.

The width of interhemispheric fissure, lateral ventricles and third ventricle were measured using cranial computed tomography (CT; linear method) in 45 elderly inpatients with chronic schizophrenia and in 28 age-matched control subjects. Twenty-three patients were men and 22 were women. In addition, Mini-Mental State Examination, Brief Psychiatric Rating Scale (BPRS) and a subclass of BPRS were undertaken in all patients. There is a significant enlargement of the maximum width of the interhemispheric fissure (in both male and female) and a significant enlargement of the ventricular system (more severe in men than in women) in aged schizophrenics, as seen with CT, compared with normal controls. These findings are consistent with previous studies of non-aged schizophrenic patients. Based upon the relation between the third ventricle enlargement and the positive and depressive symptoms in all patients. This result suggests that the advanced third ventricle enlargement may decrease these symptoms in aged schizophrenics.

Aged↗
PubMed1996

Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan.

After the DNA diagnosis, we evaluated the prevalence of Huntington's disease (HD) in the San-in area of Japan, and confirmed the founder effect. There were 10 patients with HD in the San-in area, who were diagnosed clinically. The expansion of the CAG repeat was observed in 9 patients with HD members in their families, although those family members of the patients had already died. In the patient who had no positive family history, expansion of the CAG repeat was not seen. The prevalence of HD was 065/100,000 in this area. The common haplotype studied by the polymorphism marker of D4S136 was shown in all 9 HD patients, although they were observed in only 2.7% of the normal population. These results suggested a common ancestor of these HD patients.

Adult↗
PubMed1996

[A case of amnesic syndrome caused by hematoma in the left anterior medial thalamus].

We reported a case of amnestic syndrome caused by a hematoma in the left thalamus. The case was that of a 68-year-old, right-handed man who suddenly showed amnestic syndrome. He had neither motor paresis nor sensory disturbance. Clinical examination showed he had disorientation, anterograde amnesia and mild retrograde amnesia. Immediate recall and remote memory were intact, but recent memory was severely impaired. CT scan revealed a high density area in the anterior medial part of the left thalamus. We concluded that amnesia in this patient was caused by fasciculus mamillothalamicus damage because of a hematoma during thalamic hemorrhage.

Aged↗
PubMed1995

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.

We describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here clearly demonstrate that epidermal involvement in type 2 Gaucher disease may precede neurologic symptoms and substantiate the prognostic significance of early skin abnormalities in Gaucher patients. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis, even if the scaling resolves spontaneously.

Amniocentesis↗
PubMed1995

Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature.

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.

Abnormalities, Multiple↗
PubMed1995

Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication.

DNA replication kinetics of Prader-Willi/Angelman syndrome region of 15q11.2q12 was studied without synchronization in five human amniotic cell and five skin fibroblast strains with a marker 15 chromosome, i.e., 15p+ or der(15), as cytological marker to distinguish between the two homologs. BrdU-33258 Hoechst-Giemsa techniques were used to analyze and compare the late replication patterns in the 15q11.2q12 region between the homologs. Asynchronous replication between the homologs was observed in both amniocytes and fibroblasts. From cells of a marker 15 of known parental origin, the paternal 15q11.2q12 replicated earlier than that of the maternal 15 in 92%-95% of asynchronous metaphases. The remaining 5%-8% of asynchronous metaphases displayed maternal early/paternal late replication. This mosaic pattern of replication in the 15q11.2q12 region may be due to methylation mosaicism of genomic imprinting or a relative lack of self-control of replication. These results provide cytogenetic evidence of maternal imprinting and delayed replication in the 15q11.2q12 region.

Amniotic Fluid↗
PubMed1995

A novel partial t haplotype with a brachyury-independent effect on tail phenotype.

The btm (brachyury-interacting tail length modifier) mutation was discovered in strain MOL-NIS derived from Japanese wild mice (Mus musculus molossinus) as an autosomal recessive mutation. Homozygotes for this mutation show a short tail phenotype and, moreover, this mutation causes the tailless character by interacting with the T (brachyury) gene on Chromosome (Chr) 17. Our linkage tests and RFLP analyses suggest that btm is located within the t complex on Chr 17 and represents a new partial t haplotype.

Animals↗
PubMed1995

[A case of ovarian malignant Sertoli-Leidig cell tumor treated with CBDCA, etoposide and epirubicin chemotherapy].

A 49-year-old female presented with a low abdominal tumor. Before operation, she had neither evidence of androgen excess nor abnormal tumor marker values, but US, CT and MRI findings strongly suggested the possibility of a malignant ovarian tumor. Her operative findings were as follows: a goose egg-sized main tumor in the low abdomen, with a walnut-sized tumor in the right side, which grew around the right ureter, causing right non-functional kidney. Pathological examination revealed her tumor was a very rare type of malignant Sertoli-Leidig cell tumor with pelvic lymph nodes metastases. Most patients with this disease usually have good prognoses, but with metastasis or recurrence, no therapy is as effective as in epithelial ovarian cancer. In this case, we selected a new combination chemotherapy of CBDCA, Etoposide and Epirubicin, considering current changes in the chemotherapy for ovarian germ cell tumors and Sertoli-Leidig cell tumors of testis. Now, 1 year and 4 months after operation, she has no evidence of recurrence or metastasis. This study proposes a new, presumably more effective chemotherapy for an ovarian malignant Sertoli-Leidig cell tumor.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1995

[Prevalence and founder effect of Huntington's disease in the San-in area of Japan].

After the DNA diagnosis, we evaluated the prevalence of Huntington's disease (HD) in the San-in area of Japan, and confirmed the founder effect. The population of the area was 1,387,000 on October 1st, 1993. There were 10 patients with HD in the San-in area, who were diagnosed clinically. They all had involuntary movement, mental disturbance, changes of character and atrophy of the caudate nucleus. However, one of the patients showed no positive family history of HD. The other nine patients had members with HD in their families, although those family members of the patients had already died. The expansion of the CAG repeat was observed in nine of the patients. In the patient who had no positive family history, expansion of the CAG repeat was not seen. According to the nine patients with expansion of the CAG repeat, the prevalence was 0.65/100,000. Haplotypes using polymorphism markers of D4S111 and D4 S136 were studied. The haplotypes which were observed in only 2.7% of the normal population were shown in all nine HD patients. Thus, the obvious disequilibrium was seen. These results suggested a common ancestor of these HD patients.

Adult↗