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1.
Pharmacogenomics J ; 16(2): 186-92, 2016 Apr.
Article in English | MEDLINE | ID: mdl-25963335

ABSTRACT

Catechol-O-methyltransferase (COMT) gene polymorphisms and haplotypes have been associated with both experimental and clinical pain phenotypes. In this prospective study, we investigated the association of three common polymorphisms with experimentally induced pressure pain, postoperative pain and amount of self-administered morphine in 973 patients who underwent scheduled total hysterectomy. DNA extracted from peripheral blood was genotyped for three COMT polymorphisms by Taqman assay or a PCR-based method. In the overall sample, rs4633 and rs4680 were significantly associated with morphine use, whereas rs4818 was associated with time-averaged pain scores. Statistically significant associations were found between COMT rs4633 and rs4680 genotypes and the amount of morphine self-administered through a patient-controlled analgesia pump. For rs4818, the only statistically significant association was with time-averaged pain scores. Haplotype analysis showed statistically significant association of the low pain sensitivity haplotype with time-averaged pain scores; and average pain sensitivity haplotype with total morphine and weight-adjusted morphine.


Subject(s)
Analgesics, Opioid/administration & dosage , Catechol O-Methyltransferase/genetics , Hysterectomy/adverse effects , Morphine/administration & dosage , Pain, Postoperative/drug therapy , Analgesia, Patient-Controlled , Asian People , Ethnicity , Female , Genetic Markers , Genotype , Haplotypes , Humans , Male , Observational Studies as Topic , Pain, Postoperative/ethnology , Pain, Postoperative/genetics , Polymorphism, Single Nucleotide , Prospective Studies
2.
Cytogenet Genome Res ; 134(4): 319-24, 2011.
Article in English | MEDLINE | ID: mdl-21654159

ABSTRACT

Unbalanced translocation involving both chromosome 3p duplication and 11q deletion in the same patient is extremely rare; only 1 live-born case was reported previously. This karyotype was also detected during prenatal diagnosis of 2 different pregnancies in a Taiwanese family which were both terminated. In all 3 cases, only standard karyotyping was done to detect the abnormal karyotypes. Here, we report a 4-year-old boy with cleft palate, atrial septal defect, and hypotonia with gross and fine motor delay. Oligonucleotide-based array comparative genomic hybridization showed copy number gain from 3pter to 3p24.2 (approximately 24.5 Mb) and copy number loss from 11q25 to 11qter (approximately 5.8 Mb). This de novo unbalanced translocation event involving a terminal 3p duplication and a terminal 11q deletion provides candidate genes for further investigation of dosage effect leading to the patient's multiple phenotypic abnormalities. Genotype-phenotype correlation is difficult to make in this case due to the large number of genes involved. However, the description of such cases together with precise gene-level mapping of chromosomal breakpoints will add to further refinement of candidate genes to be investigated for terminal imbalances in 3p and 11q when more similar cases are reported.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Disorders/genetics , Chromosomes, Human, Pair 11/genetics , Chromosomes, Human, Pair 3/genetics , Translocation, Genetic , Abnormalities, Multiple/pathology , Child, Preschool , Chromosome Banding , Chromosome Disorders/pathology , Cleft Palate/pathology , Comparative Genomic Hybridization , Developmental Disabilities/pathology , Genetic Association Studies , Heart Septal Defects, Atrial/pathology , Humans , Karyotyping , Male , Monosomy , Trisomy
3.
Article in English | WPRIM (Western Pacific) | ID: wpr-627614

ABSTRACT

Congenital partial aplasia of the atlas with a posterior arch remnant is rare. It may be found as an incidental radiological finding or patients can present with neurological signs and symptoms after head or neck trauma. A 36 year old female presented with a 3 day history of right sided neck pain radiating down the right arm. Radiographs of the cervical spine showed a radiolucent area in the region of the posterior arch of the atlas. Computed tomography subsequently revealed partial absence of the posterio

4.
Article in English | WPRIM (Western Pacific) | ID: wpr-963740

ABSTRACT

This is a local presentation emphasizing on 135 stool specimens against 13 antimicrobials using the paper discs-blood agar plate method. The 3 antimicrobials of choice are nalidixic acid, nitrofurantoin and furazolidone. Others of secondary importance as chloramphenicol, neomycin and tetracycline while dihydrostreptomycin, ampicillin, chlortetracycline and acetyl sulfasoxasole are considered poor. We have not included foreign observations in comparison since there is no need for it.(Summary and conclusion)

5.
Article in English | WPRIM (Western Pacific) | ID: wpr-963739

ABSTRACT

A ten year comparative report of diarrheal cases in 1953 and 1963 at the Manila childrens Hospital has been presented. A five year survey (1960-1964) of diarrheal cases in the same hospital has also been dealt with in the aspects of age, season and mortality percentage. The original 7.7 of diarrheal deaths in 1953 (preliminary report) now reduced to 1 in 1963 is significant as one of the lowest locally reported. The major factor for the satisfactory clinical results accrue to the effective use of the scalp vein infusion set and the recommended simplified form of fluid and electrolyte therapy.(Summary and conclusion)

6.
Article in English | WPRIM (Western Pacific) | ID: wpr-963062

ABSTRACT

No doubt physicians will continue to argue about the usefulness of chemoprophylaxis in the above conditions. However, all controlled trials so far conducted have shown that systemic antibacterials are of no value in preventing bacterial infections in these conditions. (Conclusions)

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