A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH.
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Abnormalities, Multiple↗
Biomedical subjects
P Chia
Publications and source records attributed to P Chia.
Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience.
Beta-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap-Polymerase Chain Reaction. We identified 17 beta-globin defects-initiation codon for translation (T-G), -29 (A-G), -28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1-5 (G-C), CD 41/42 (-CTTT), CD 71-72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Ggamma(Agammadeltabeta) degrees and 45-kb Filipino deletions. The 192 beta-alleles studied comprised Chinese (151 patients), Malay (21), Orang Asli from East Malaysia (15), Filipino (1), Indian (1), Indonesian Chinese (2), and Thai (1). In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. The Filipino 45-kb deletion caused 73.3% of bthalassemia in the Orang Asli. Using genomic sequencing, the rare Chinese beta-mutation at CD 43 (G-T) was confirmed in 2 Chinese, and the Mediterranean mutation IVS1-1 (G-A) was observed in a Malay beta-thalassemia carrier. The beta-globin mutations confirmed in this prenatal diagnosis study were heterogenous and 65 (68%) couples showed a different globin defect from each other. The use of specific molecular protocols has allowed rapid and successful prenatal diagnosis of beta-thalassemia in Malaysia.
Asian People↗
The importance of high resolution chromosome analysis in the diagnosis of birth defects: case reports of holoproscencephaly and cystic hygroma.
INTRODUCTION: The goal of cytogenetics is the detection of chromosomal abnormalities, achieved by the analysis of adequate numbers of metaphases at the appropriate bands per haploid set (BPHS). CLINICAL PICTURE: Two cases presented here include a foetal blood sample (FBS) of a 33-week-old referred with holoproscencephaly by ultrasonography, and an amniotic fluid (AF) specimen of a 14-week-old foetus with cystic hygroma, cardiac and renal defects. OUTCOME: The FBS had a deletion at 18p11.31. Another laboratory had earlier given a normal cytogenetic result on its AF sample. In the second case, an unbalanced 46,XY,der(5)ins(5;3) (q33.1;q26.2q27)mat karyotype was obtained with the AF sample. In both cases, the abnormalities were more obvious when band levels were > or =450 BPHS. CONCLUSION: This report underscores the importance of obtaining longer chromosome preparations above the current recommended 400 BPHS for prenatal specimens. This is particularly important in cases with abnormal ultrasound findings suggestive of an underlying chromosomal pathology.
Adult↗
The pregnancy outcome of acyanotic heart disease.
OBJECTIVE: To study the pregnancy outcome of women with acyanotic heart disease. METHOD: This is a retrospective study from a tertiary referral centre in a developing country over a period of 3 years. RESULTS: There were a total of 19,151 deliveries where 143 cases had heart disease in pregnancy, all of which were acyanotic, giving an incidence of 0.7%. Fifty-one (38.4%) of these were congenital whereas 82 (61.6%) were acquired. There was no cyanotic heart lesion during this study period. The fetal and maternal outcome of the women with heart disease (study group) was compared with the general obstetric population in the Unit (control group) using the Chi-squared test. Ninety-two percent in the study group were asymptomatic (NYHA Class I). The age distribution were no different except in the < 20 years interval where there were significantly fewer in the study group. More women with heart disease were primiparous and fewer were multiparous as compared with the controls. There was no significant difference in the rate of induction of labour (9.8% vs 11.8%). The use of epidural analgesia was significantly higher in the study group (49% vs 13%) as was the instrumental delivery rates (35.7% vs 5.7%) when compared with the controls. The caesarean section rate was no different. The mean gestation of babies born to mothers with heart disease was 38.2 weeks. Significantly fewer babies were in the 3.0-3.5 kg weight interval and more in the 2.5-3.0 kg interval. However, this did not alter the perinatal mortality rates which was not significantly different (15.3 vs 14.0 per thousand). CONCLUSION: The fetal and maternal outcome in women with acyanotic heart disease was favourable. It is advocated that the management of these cases should be multidisciplinary to optimise care for these patients.
Adult↗
Bacteriuria in pregnancy: a comparison of Bangladeshi and Caucasian women.
During a 5-year period all urine culture results from pregnant Caucasian and Bangladeshi women booked for confinement at the Royal London Hospital, London, UK, were reviewed to determine race-specific rates of bacteriuria. The results showed that the overall prevalence of bacteriuria in the Caucasian group was 6.3% compared to 2.0% for the Bangladeshi women. Caucasian women were found to be at significantly greater risk across all pregnancy outcome and history categories, with the greatest risk observed in grand multiparous women (RR: 4.7, 95% CI: 2.8-8.3). Pregnancies that resulted in preterm delivery showed a strong association of bacteriuria in Caucasian women which was not seen in the Bangladeshi women (RR: 4.4, 95% CI: 2.0-8.7). The data suggest that Caucasian women have a significantly higher prevalence of bacteriuria in pregnancy than their Bangladeshi neighbors. Differences in hygiene practices and clothing may explain the observed differences in the bacteriuria rates.
Adult↗
Plating of displaced mid-tibial fractures--a retrospective review of 80 cases.
We present a 2-year retrospective review and study of 80 patients admitted to our department with displaced mid-tibial fractures and treated by plate-fixation. This review paid particular attention to various complications that arose post-operatively. The incidence of post-operative complications was 22.5%, with one death. The main complications were infections and refractures. Among those infected, there were no cases of osteomyelitis. We did not find a statistically significant difference in infection rates between the closed and open grades of fractures. We conclude that plate fixation of mid-tibial fractures is comparable with other modalities of treatment.
Adult↗
Co-existing tubal ectopic pregnancy and appendicitis--a case report.
Appendicitis in pregnancy has a well documented high morbidity due to the difficulty in diagnosis. However, synchronous ectopic pregnancy and appendicitis is a rare event. This report describes the case of a 22-year-old lady of Bangladeshi origin who presented with both these conditions. The importance of prompt diagnosis and early surgical intervention, the inherent difficulties in diagnosis and the possible interrelated aetiological factors are discussed.
Appendectomy↗
Obstetric outcome of Bangladeshi women in east London.
OBJECTIVE: To study the obstetric outcome of women of Bangladeshi origin in comparison with the white caucasian population in East London. DESIGN: A retrospective study of 16718 pregnancies over a five year period (1987-1991). SETTING: An East London teaching hospital district. SUBJECTS: Six thousand four hundred and sixty Bangladeshi women compared with 7592 white caucasian women. MAIN OUTCOME MEASURES: Maternal: antenatal complications; induction and augmentation rates; analgesia and anaesthesia; instrumental delivery and caesarean section rates; third stage complications. Fetal: gestation and weight at birth; perinatal mortality rates. RESULTS: The following statistically significant findings were noted: Bangladeshi women had a longer reproductive age span and were of greater parity including grand multiparity. They suffered fewer antenatal complications except for gestational diabetes. They had lower induction rates and, among the parous group, lower augmentation rates. During labour they required less analgesia but more commonly had general anaesthesia for caesarean section deliveries. They required instrumental delivery less often but there was no difference in overall caesarean section rate for the two groups. However, overall Bangladeshi women had a lower elective caesarean section rate, although parous Bangladeshi women had a higher emergency section rate. In the third stage there were no differences in the complication rates for the nulliparous women, however the parous Bangladeshi women had a higher postpartum haemorrhage rate and a lower perineal repair rate consistent with their higher parity. Whilst preterm births were more common in Bangladeshi women, significant prematurity (less than 28 weeks gestation) was less common. Similarly, although Bangladeshi babies weighed less at birth, they had fewer babies weighing less than 1500 grammes. There was no statistically significant difference in the perinatal mortality rate between the two groups, being 8.1 per thousand births overall. Whilst there was a statistically insignificant decline in death rates over the five-year period, between the groups there was no consistent difference. CONCLUSION: Pregnant Bangladeshi women in East London constitute a relatively high parity, low risk population who have less obstetric intervention and yet manage an equivalent (or better) perinatal outcome compared to their white caucasian neighbours.
Adolescent↗
A telemedicine system for high-quality transmission of paper electrocardiographic reports.
To overcome problems associated with the faxing of ECGs, we developed a telemedicine system providing fast transmission of ECGs between physicians and cardiologists at different locations. It digitized ECGs at a resolution of 300 dots/inch (118 dots/cm), processed them, and transmitted them over a standard telephone line in under one minute. The system also paged the cardiologist in order to direct him or her to the location where the ECG would be waiting for interpretation. The system enabled physicians at remote locations to consult using voice, images and simultaneous cursor pointers. A transmitting site was set up at the Medical Centre of the Ministry of Defence and a receiving site at the National University Hospital, about 5 km away. During a six-month trial, 200 ECG reports were transmitted from one site to the other. They were rated excellent in quality by the cardiologists, being virtually indistinguishable from the originals. Our telemedicine system transmits high-quality ECGs rapidly and at low cost.
Algorithms↗
Undiagnosed breech.
OBJECTIVES: To assess the proportion of breech presentations diagnosed in labour and to compare their outcomes with those diagnosed prior to the onset of labour. DESIGN: Retrospective casenote review. SETTING: Mill Road Maternity Hospital, a teaching hospital in central Liverpool. SUBJECTS: Three hundred and five singleton breech presentations delivered in the hospital between January 1988 and July 1991; 226 cases prior to the onset of labour and 79 cases diagnosed for the first time in labour. MAIN OUTCOME MEASURES: Rates of vaginal delivery and caesarean section, birthweight, short term morbidity as assessed by trauma, signs of cerebral irritation and admission to the newborn intensive care unit (NBICU), and Apgar scores. RESULTS: Breech presentations diagnosed for the first time in labour were more likely to deliver vaginally than those assessed and allowed to go into labour (odds ratio 1:68 95% CI 1.0-3.0). This difference was not due to demographic variables or differences in birthweight. There was no short term morbidity attributable to vaginal breech delivery. CONCLUSION: A significant number of breech presentations are not detected until labour despite rigorous antenatal surveillance. Our results show that undiagnosed breeches may not be important as they are more likely to deliver vaginally, with no excess morbidity or mortality, compared to diagnosed breeches in labour, carefully assessed for vaginal delivery. There are, therefore, no grounds for delivering all undiagnosed breeches by caesarean section.
Adolescent↗