Association between ADAM33 polymorphisms and asthma in a Thai population.

ADAM33 (A Disintegrin And Metalloprotease 33) is an asthma susceptibility gene found across several human populations. However, no information on ADAM33 exists for Thai population. The objective of this study was to determine the association, if any, between ADAM33 polymorphisms and asthma in Thai subjects. Genotyping revealed 8 single nucleotide polymorphisms (SNPs) within the 3' region of the ADAM33 gene among 200 asthmatics and 100 control subjects. Asthmatic subjects were further sub-categorized into high and low severity groups. Multiple genetic model statistic tests for single-marker and haplotype association were carried out. Differences in allele frequencies at the SNPs rs528557/S2, rs598418 and rs44707/ST+4 in asthmatics were statistically significant compared to controls. The SNP rs528557/S2 could also be linked to the low severity group and the SNPs rs598418 and rs44707/ST+4 with the high severity group. Two-SNP haplotype analysis at the SNPs rs528557/S2 and rs598418 revealed a significant association with asthma. This study in a Thai population confirmed a positive association between ADAM33 polymorphisms and asthma susceptibility.

Preimplantation Genetic Diagnosis for alpha thalassemia: experience in Siriraj Hospital.

Objective: Detection of fetal thalassemia using preimplantation genetic diagnosis (PGD) can make a diagnosis before pregnancy so termination of pregnancy in that patient is eliminated. The objective of this study was to develop a single gene polymerase chain reaction (PCR) protocol for PGD of alpha thalassemia in Siriraj Hospital. Methods: A couple with a history of repeated Bart’s hemoglobinopathy in fetus underwent an artificial reproductive technique (ART) process using a standard ovarian stimulation protocol with intracytoplasmic sperm injection (ICSI) to reduce sperm DNA contamination. On day 3 post fertilization, laser biopsy was performed on the cleavage stage embryos to obtain a blastomere for PCR analysis of alpha thalassemia 1 SEA type. Results: 11 embryos from a total of 15 oocytes were biopsied, 2 normal, 1 alpha thal 1 trait and 3 affected embryos were detected. No contamination and allele drop out were detected, but a high PCR failure rate of 5 from 11 total biopsied embryos. Conclusion: PGD for alpha thalassemia was first established in Siriraj Hospital, but the result had a high failure rate so then optimized laboratory techniques were required.

Prenatal diagnosis of thalassemia and hemoglobinopathies: 20 years experience at Siriraj Hospital.

Objective: To show the experience of prenatal diagnosis of Thalassemia and hemoglobinopathies in Siriraj Hospital. Methods: Hb Bart’s hydrops fetalis can be detected by DNA study from polymerase chain reaction (PCR) product in the first trimester of pregnancy either by chorionic villus sampling (CVS) or aminocentesis but in late pregnancy it can be detected unambiguous by ultrasonography at 18-20 weeks gestation, the suspected cases are confirmed by fetal blood sampling and Hb electrophoresis. Prenatal diagnosis (PND) for β-thalassemia diseases can be done at early pregnancy by direct visualization of the PCR products on electrophoresis or by dot blot analysis of amplified DNA with a set of HRP-labeled oligonucleotide probes complementary to the mutations. If the mutation is unknown. The couples have to wait for Hb analysis by HPLC or in vitro globins chain analysis from fetal blood in the second trimester. Results: The results of PND at Siriraj Hospital are summarized as Hb Bart’s Hydrops fetalis 228 cases, Homozygous Beta-Thalassemia 126 cases, and Beta Thalassemia/Hb E disease 550 cases. There are various methods of sampling namely chorionic villous sampling, amniocentesis, fetal blood sampling, ultrasound, or even combined method. There are minimal incidences of fetal loss 9 out 904 cases which comparatively give us one of the best center for prenatal diagnosis in Asia. Conclusion: Of the 904 pregnancies, the diagnosis were obtained in 891 pregnancies in which had 5 fetal loss from dead fetus in utero after fetal blood sampling in the second trimester. The other complication occurred after sampling failure.

Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis.

Generalized shortening of fetal long bones detected from prenatal sonographic examination usually raise a tentative diagnosis of skeletal dysplasia. Information obtained from grey-scale scan is frequently not sufficient to provide a definite diagnosis, and the images are not readily comprehensible for the parents-to-be. Lately, three-dimensional sonography has become increasing available in obstetric practice. The authors report here a rare case of fetal achondrogenesis, which is a lethal form of skeletal dysplasia, in a 30-week-old fetus using real-time three-dimensional ultrasound. The prenatal findings of fetal achondrogenesis from this technique were thoroughly described, along with postnatal radiography and autopsy results. Sonographic features from this imaging technique allow for an accurate diagnosis and better understanding of the parents. This facilitates the genetic counseling process, as well as the parental options for further care.

Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.

Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypotonia since birth or in early life. It is heterogeneous and can be caused by various central nervous system disorders, neuromuscular diseases and genetic disorders. X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy morphologically characterized by the presence of centrally placed nuclei in numerous muscle fibers without any other particular pathological abnormalities. Patients are frequently born with floppiness and respiratory distress. The vast majority of patients carry a truncating or missense mutation in MTM1. The authors report here a full term male baby with clinicopathological features of XMTM. The diagnosis is validated by the finding of a c. 141-144delAGAA mutation ofMTM1. To the best of the authors' knowledge, the present case is the first genetically confirmed XMTM in Thailand. A brief review of various neuromuscular disorders causing floppy infant syndrome is also included.

Review of non-surgical procedures in medical wards: From utilization review results to process improvement.

The Department of Medicine Utilization Review Committee undertook review of non-surgical procedures performed for in-patients in medical wards by examining records, results of orders, results and charges for 4 representative wards during a one-month period. Altogether 45 procedures were performed. Adequate documentations were identified in only 51.06% and 83.7% of order sheets and nurse progress notes, respectively. Loss incurred by failure to charge accounted for 11.82% of total charges. The 3 highest loss rates pertained to oxygen therapy, EKG, and Hudson’s nebulizer treatment. After a period of intensive campaigning as well as procedural record sheet implementation, the loss in charge was reduced to 7.98% while the completeness of documentation increased to 67.7% and 84.6% in order sheets and nurse progress notes, respectively. Among all procedures, EKG was the only one without improvement. This, a 2-month pilot study was then began to compare the loss rate between the usual EKG process done by ward staffs and one done by EKG nurses. The result showed near total completeness of documentation and charges, and a significantly increased net income. We concluded that utilization review should be performed routinely and results should enable an organization to take actual steps to modify its process in order to best use its resources.

Pseudotrisomy 13 syndrome : A case report.

We report on a male baby with microcephaly, holoprosencephaly of alobar type with sigle ventricle, cyclopia, proboscis, poorly developed testes, and clenched hands without polydactyly, suggestive of trisomy 13 syndrome. However, the cytogenetic study disclosed 46,XY. The case presented here very well represents pseudotrisomy 13 syndrome and signifies the value of cytogenetic study and genetic counseling.

Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report.

A case of Treacher Collins syndrome (TCS) diagnosed prenatally using ultrasonography is reported. The pregnant woman was gravida 2, para 0. Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome.