PubMed Health⌕ Search

Biomedical subjects

A Fujimoto

Publications and source records attributed to A Fujimoto.

At least 109 records · Page 6Linked to original sources
PubMed1985

Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.

A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.

Abnormalities, Multiple↗
PubMed1985

Temporal bone pathology in congenital anomalies of the oval window and the facial nerve.

Temporal bones of six infants with congenital ear anomalies were examined for abnormalities of the oval window and facial nerve. These temporal bones were classified into two groups according to the degree of malformation: group A, those with atresia or absence of the oval window; and, group B, those with hypoplasia of the stapes and annular ligament. Group A, consisting of five ears, were associated with severe middle ear anomalies such as the abnormal course of the facial nerve and absence of the stapes. In group B, consisting of seven ears, the stapes were present and the facial nerve presented minor anomalies such as obtuse angulation at the first genu, central migration of the geniculate ganglion cells, ectopic muscles and a wide bony dehiscence of the facial canal around the oval window. Probable origin of the anomalies in group A could mainly be due to maldevelopment of the facial nerve during an earlier embryonal period while that of group B could have developed after the ninth week of the fetal period and are mostly localized along the second branchial arch.

Abnormalities, Multiple↗
PubMed1985

[Pathophysiology of defecatory disturbance in the patient with Hirschsprung's disease and chronically constipated patients with simple megarectum].

The disturbance of defecation in the patient with Hirschsprung's disease and the pathophysiology of constipation in the constipated patient with simple megarectum were investigated. In Hirschsprung's disease, an existence of aganglionosis and the sphincter achalasia are two main factors which cause clinical symptoms such as chronic constipation and megacolon. As a surgical treatment, we have routinely performed our modified Duhamel's operation. Postoperative followup study indicated that the most cases in our series have gained a satisfactory defecatory function 1 to 3 years after operation. In chronically constipated patient with simple megarectum, on the other hand, it was found manometrically that the most of them had significantly high anal canal pressure and incomplete anal relaxation after rectal stimulation. These findings indicate that those patients have hypertonic and achalasic sphincter. Therefore, the authors propose "high anal pressure syndrome (HAPS)" for such constipated patient with simple megarectum. As to the surgical treatment, 6 patients with simple megarectum had a complete posterior internal sphincterotomy and the postoperative results were excellent or good in our series.

Adolescent↗
PubMed1983

Nonimmune fetal hydrops and Down syndrome.

Six infants with nonimmune fetal hydrops (NIFH) were found to have trisomy 21 (Down syndrome). A cardiac malformation was present in three of these infants. The manifestations of Down syndrome was obscured by the generalized edema at birth. The association of Down syndrome and NIFH emphasizes the need for chromosome analysis in the workup of infants or fetuses with NIFH.

Down Syndrome↗
PubMed1983

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.

Two children of second-cousin parents were found to have a very mild form of Morquio syndrome. The 14-year-old boy was 147 cm tall and had fine corneal deposits, a broad chest, dislocated hips, and flat feet. His 7-year-old sister had a broad chest but otherwise normal physical development. An abnormal lumbar spine was seen in radiographs of both children. Analysis of the urine from the affected children showed levels of acid mucopolysaccharides (AMPS) up to twice as high as that found in normal urine, but no evidence of keratosulfaturia. Most urinary AMPS was chondroitin-6-sulfate. Multiple assays of N-acetylgalactosamine-6-sulfate (GalNAc-6-SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome. This report identifies an enzymatic defect in one form of non-keratan-sulfate-excreting Morquio (NKSE Morquio) syndrome and confirms the absence of keratosulfaturia in this mild form of Morquio disease.

Adolescent↗
PubMed1983

Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2).

A 1730-g male infant, born at 37 weeks gestation, had multiple congenital anomalies, consisting of microcephaly, hypertelorism, bilateral cleft lip and palate, micrognathia, low-set ears, and cryptorchidism. Chromosome analysis showed a recombinant 22 derived from the paternal inversion (22)(p13q12.2). The proband's karyotype is 46,XY,rec(22),dup q,inv(22)(p13q12.2)pat, which has a duplication of q12.2 leads to qter. An identical recombinant has been reported in a female infant in Mexico whose mother was a carrier of the inversion. Similar congenital anomalies present in these two patients demonstrate the phenotype of duplication of the distal long arm 22. This report also documents the occurrence of an identical inversion in two apparently unrelated Mexican families.

Abnormalities, Multiple↗
PubMed1983

CSF monoamine metabolism in patients with tardive dyskinesia: effect of oxypertine and hydroxyzine pamoate.

Cerebrospinal fluid (CSF) HVA, MHPG, 5-HIAA, cAMP and cGMP concentrations were measured in schizophrenic patients with tardive dyskinesia before and after a three-week administration of oxypertine (n = 4), hydroxyzine pamoate (n = 4) or placebo (n = 4). The oxypertine administration resulted in a reduction of the CSF HVA concentration and an elevation of the MHPG and cAMP concentrations, associated with a clinical improvement in tardive dyskinesia. The hydroxyzine administration reduced the CSF 5-HIAA concentration in all the patients and the CSF HVA concentration in two of four patients with a clinical improvement. A reduction in the CSF HVA concentration associated with possible therapeutic effects of oxypertine or hydroxyzine may suggest the normalization of a hyperdopaminergic state. Discussions were held that functional disorders of not only the dopaminergic system but the norepinephrinergic and serotoninergic systems may relate to the pathogenesis of tardive dyskinesia.

Biogenic Amines↗
PubMed1983

Temporal bone histopathology of atresia auris congenita with chromosome aberration.

Temporal bone findings in two infants demonstrating congenital aural atresia with microtia were presented focusing mainly on the external and middle ears. These two cases were proved to have chromosome aberration that is, 13-15 trisomy and extra chromosome in group G individually. Temporal bones showed the multiple anomalies through the external, middle and internal ears. The external canals were filled with connective tissue in one case and with bony plate in the other to form aural atresia. There were no development of the tubotympanic recess in a case of 13-15 trisomy. The oval window area in both cases was poorly developed resulting in a connective tissue fissure in the lateral wall of the vestibule except for one ear, while the round windows were normally formed in all ears. The facial nerves showed an abnormal running course without forming the geniculate ganglion and the horizontal segment. These findings indicate that the structures derived from the second branchial arch might be more deeply involved than the first one in the congenital aural atresia.

Chromosome Aberrations↗
PubMed1983

Cerebrospinal fluid monoamine metabolites during alcohol withdrawal syndrome and recovered state.

The aim of the study was to examine changes in cerebrospinal fluid (CSF) monoamine concentrations related to alcohol withdrawal. Lumbar puncture was performed in 8 healthy volunteers (control group) and 36 chronic alcoholic patients following alcohol withdrawal. A second lumbar puncture was performed in 20 of these patients after recovery from the withdrawal. CSF 3-methoxy-4-hydroxyphenylglycol (MHPG), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA) were measured. Alcohol withdrawal phenomena in all patients were classified in the following three groups: (i) major withdrawal syndrome: alcohol-withdrawal delirium, (ii) minor withdrawal syndrome: evident autonomic nervous hyperactivity without hallucination or clouding of consciousness, and (iii) asymptomatic type: a withdrawal period without overt symptoms. MHPG concentration was significantly increased in the major withdrawal syndrome, as compared with other groups, including the controls. No change in MHPG was found in the patients without overt autonomic nervous syndrome. A positive correlation between CSF-MHPG and intensity of withdrawal symptoms (r = 0.60, p less than 0.02) was found. A higher correlation between CSF-MHPG and intensity of autonomic nervous disturbances was also found (r = 0.86, p less than 0.001). CSF-HVA was significantly low during the alcohol delirium. It is suggested that a close relationship may exist between autonomic nervous disturbances and increase in central noradrenergic activity, as well as between the alcohol delirium and decrease in central dopaminergic activity.

Adolescent↗
PubMed1983

[Laboratory and clinical studies on latamoxef in the field of obstetrics and gynecology].

Latamoxef (LMOX) is a new antibiotic synthesized by Shionogi Research Laboratory. Chemically LMOX is especially unique with a sulfur atom replacing the oxygen atom in the 1 position of the conventional cephalosporin nucleus, and in addition, this antibiotic has a cephamycin-like structure. The antibacterial activity of LMOX shows high potency against Gram-negative bacteria, but tends to be weak against Gram-positive bacteria. The tissue levels of LMOX in humans after intravenous injection of 1 g were examined. The levels in uterine and adnexa uteri tissue at 1 hour after administration were 25.4 and 27.4 micrograms/g respectively. LMOX was administered to 147 cases in infections of obstetric and gynecological field. The clinical effect according to disease was 94.6% for intrauterine infections, 95.0% for adnexitis, 87.0% intrapelvic infections, and 100% for external genital organ infections, making a total of 92.5%. The rate of occurrence of side effects or abnormal laboratory findings was similar to or slightly less than that seen with other beta-lactam antibiotics.

Adult↗
PubMed1983

Effective bromocriptine treatment of a pituitary macroadenoma during pregnancy.

A 32-year-old woman with 5 years of oligomenorrhea and 2 years of amenorrhea became pregnant after ovulation induced by clomiphene citrate, human menopausal gonadotropin, and human chorionic gonadotropin. Although there were no neurologic or ophthalmologic symptoms before pregnancy, ptosis and diplopia developed progressively from 14 weeks' gestation. Physical, radiologic, and laboratory examinations revealed hyperprolactinemia with pituitary macroadenoma. In an attempt to delay surgery, 7.5 mg bromocriptine was administered daily. The serum prolactin level was lowered and clinical symptoms improved with bromocriptine treatment. The pregnancy continued uneventfully and normal twins were born at 39 weeks' gestation. Two weeks after delivery, a transsphenoidal hypophysectomy was performed.

Adenoma, Chromophobe↗