22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment

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Singapore Med J 2008; 49(4):286-9
22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment

Tan KBL, Chew SK, Yeo GSH
Correspondence: Dr George SH Yeo, mfm93b@pacific.net.sg


ABSTRACT
Introduction The 22q11 deletion syndrome (22q11DS) is associated with many congenital structural anomalies, notably cardiac defects (conotruncal anomalies) and velopharyngeal insufficiency, as well as neurodevelopmental and psychiatric findings in later life. Recent studies have tried to ascertain the true population incidence of this condition. However, this is difficult due to possible under-ascertainment from incomplete genetic testing in possible cases. The aim of this study is to investigate the local incidence and association of this deletion syndrome with other congenital structural anomalies, with emphasis on cardiac defects.
Methods Data of 22q11 deletion cases born in 2000-2003 were retrieved from the Singapore National Birth Defects Registry (NBDR) and analysed. Data of congenital cardiac defect cases notified to NBDR in the same period were also retrieved and compared with the deletion cases.
Results There were a total of 17 cases of 22q11DS in the four-year period 2000-2003, giving an overall incidence of 1.02 per 10,000 live-births or one in 9,804 births. 94 percent (16/17 cases) were associated with other structural anomalies, and of these, 68.8 percent (11/16 cases) had single system anomalies. Cardiac anomalies were the most common (100 percent). The deletion contributed to 0.86 percent (one in 116 cases) of all cardiac defects born during the same period. A higher contribution of this deletion was noted for interrupted aortic arch (10 percent), pulmonary atresia (12.7 percent) and truncus arteriosus (11.1 percent).
Conclusion In view of the high proportion of this deletion among certain cardiac defects, genetic testing should be made available to investigate the true burden and contribution of this deletion. As more genetic testing is done for this deletion, we are likely to see an increase in incidence, reflecting the true prevalence of this condition.

Keywords: 22q11 deletion syndrome, cardiac defects, congenital anomalies, conotruncal defects
Singapore Med J 2008; 49(4): 286-9

Industrial accident-related ocular emergencies in a tertiary hospital in Singapore

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Singapore Med J 2008; 49(4):280-285
Industrial accident-related ocular emergencies in a tertiary hospital in Singapore

Ngo CS, Leo SW 
Correspondence: Dr Cheryl Ngo, cherylngo@gmail.com


ABSTRACT
Introduction: We present a review of industrial accident-related ocular trauma, from the perspective of the emergency setting of a tertiary hospital in Singapore.
Methods: A retrospective analysis of patients seen by Tan Tock Seng Hospital's emergency ophthalmology service over a six-month period was performed. Data on clinical presentation, cause of injury, use of protective eyewear and subsequent losses of days-of-work were collected via a standardised telephone interview and review of case-sheets.
Results: A total of 300 persons presented with a diagnosis of industrial accident-related ocular trauma, out of the 1,460 patients seen during the study period. 95.7 percent were non-residents and the average age was 31 years. 99.3 percent were males. 66.0 percent were provided with protective eyewear, while 44.7 percent of those were non-compliant. The most common types of injuries were superficial foreign body (71.3 percent), chemical injury (10 percent) and blunt trauma (4 percent), while severe injury requiring admission and emergency surgery occurred in 15 cases. Average loss of days of work was 3.4 days.
Conclusion: Industrial accident-related ocular trauma comprises a relatively large proportion of the patients requiring ophthalmic review at the emergency service level in Singapore. These patients are mainly young, non-resident men and the injuries were generally minor. These are largely preventable with the use of well-fitting protective eyewear and strict compliance. This would greatly reduce the unnecessary loss of workdays. Therefore, there is a need to review the design, and reinforce the strict implementation of occupational eye safety programmes, especially among non-resident workers.
 
Keywords: eye injuries, industrial accidents, ocular emergency, ocular foreign bodies, protective  eyewear
Singapore Med J 2008; 49(4):280-5

Effect of basic military training on hearing in the Singapore Armed Forces

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Singapore Med J 2008; 49(3):243-6
Effect of basic military training on hearing in the Singapore Armed Forces

Teo KJ, Chia SE, Tan TC, Ali SM 
Correspondence: Dr Chia Sin Eng, cofcse@nus.edu.sg


ABSTRACT
Introduction: In the military service, hearing is at risk through exposure to impulse noise from firing and detonations. This study aims at looking into the consequences of military training on hearing acuity, as it would be useful to confirm the effectiveness of the hearing conservation programme in the Singapore Armed Forces.
Methods: A self-controlled study of 118 Singapore military conscripts was carried out, using questionnaires administered by trained personnel and pure tone audiometric assessments performed for both ears. The questionnaire and audiometry were done at the start of basic military training (BMT), with follow-up audiometry done at the end of BMT and one year into vocational military training (VT).
Results: 33 military conscripts were excluded subsequently in latter phases of the study. Of the 85 remaining conscripts, 16.5 percent of the study population were found to have abnormal audiograms at the start of BMT. At the end of the BMT phase, the percentage of enlistees with abnormal audiograms was 9.4 percent. By the end of one year of VT, the percentage of enlistees with abnormal audiograms was still 9.4 percent. Analysis of the differences in number of enlistees with hearing loss was done with the McNemar's test, and was found to be statistically insignificant (p-value equals 0.238).
Conclusion: The prevalence of 16.5 percent abnormal audiograms at the pre-BMT stage is probably related to unfamiliarity with the audiogram testing and/or "temporary threshold shift" effect. There was no significant difference in the number of enlistees with hearing loss upon enlistment and after one year of military training in this cohort of soldiers.
 

Keywords: audiometry, basic military training,  hearing loss, military, pure tone audiometry
Singapore Med J 2008; 49(3):243-6

Predictors of variceal bleed among patients with liver cirrhosis in the era of sclerotherapy

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Singapore Med J 2008; 49(3):239-42
Predictors of variceal bleed among patients with liver cirrhosis in the era of sclerotherapy

Varghese J, Cherian JV, Solomon R, Jayanthi V 
Correspondence: Dr Joye Varghese, joyvargese@gmail.com


ABSTRACT
Introduction: Variceal bleed is a common complication of portal hypertension. The bleed pattern has changed considerably with the introduction of variceal band ligation. The bleed pattern in developing countries where sclerotherapy continues to remain a viable option is not known. The aim of the study was to determine the predictors of first and subsequent bleed in individuals with liver cirrhosis.
Methods: 205 subjects with liver cirrhosis and portal hypertension registered in the liver clinic between January and June 2004, were followed-up for 18 months after registration. Bleeders already on pharmacotherapy or endotherapy were excluded. Patient details included age, gender, duration of illness, aetiology, Child-Pugh-Turcotte score and grades of oesophageal varices, details of index and subsequent variceal bleed, and complications during follow-up. Logistic regression multivariate analysis was applied to predict the factors influencing variceal bleed.
Results: There were 95 variceal bleeders and 110 non-bleeders. Age at presentation and gender did not predict a variceal bleed. Grades III and IV oesophageal varices and fundal varices were the significant risk factors for an index bleed (p-value is 0.001). 27 of the 95 bleeders (28.3 percent) had a second bleed after a mean interval of 8 (+/- 7.7) months. Predictors of rebleed were similar to the index bleed. Predictors of index bleed were also similar to those who had bled for the first time after registration. Overall bleed-related mortality was low (2.1 percent).
Conclusion: Higher grades of varices, presence of cherry-red spots and fundal varices predicted variceal bleed in patients with liver cirrhosis. Variceal bleed-related mortality was low in the era of sclerotherapy.


Keywords: endoscopic sclerotherapy, liver cirrhosis, oesophageal varices, variceal bleeding
Singapore Med J 2008; 49(3):239-42

Haemodynamic and ventilatory effects of preoperative epidural analgesia during laparoscopic hysterectomy using NICO

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Singapore Med J 2008; 49(3):233-8
Haemodynamic and ventilatory effects of preoperative epidural analgesia during laparoscopic hysterectomy using NICO

Hong JY 
Correspondence: Dr Jeong-Yeon Hong, jenyhongg@hanmail.net


ABSTRACT
Introduction: The pneumoperitoneum and the head-down tilt positions required for laparoscopy may induce pathological, haemodynamic and ventilatory changes that complicate anaesthetic management. The purpose of the study was to evaluate the effect of preoperative epidural analgesia on intraoperative haemodynamic and ventilatory parameters during laparoscopic hysterectomy using the non-invasive cardiac output with partial carbon dioxide rebreathing technique (NICO).
Methods: 50 female patients were enrolled in this study. One percent lidocaine 15 ml with epinephrine and 2 mg morphine were administered via an epidural catheter before the induction of anaesthesia in the epidural group (n = 25), but not in the control group (n = 25). NICO was connected and monitored to the ventilatory circle. We also compared the quality of postoperative pain control.
Results: The blood pressures in the epidural group were significantly lower than the control group immediately after the Trendelenburg position. Stroke volume, cardiac output, and cardiac index were significantly higher in the epidural group, than in the control group during the entire surgery. Dynamic compliances after gas exsufflation were significantly higher, and production of carbon dioxide was lower after pneumoperitoneum in the epidural group, than in the control group. In the epidural group, the postoperative pain scores and the additional analgesic requirements were significantly lower than in the control group.
Conclusion: We concluded that preoperative epidural analgesia provides not only more effective postoperative pain control, but also offer higher cardiac output and cardiac index, higher dynamic compliance, and lower production of carbon dioxide during the laparoscopic hysterectomy.
 

Keywords: epidural analgesia, haemodynamic, laparoscopic hysterectomy, non-invasive cardiac output, partial carbon dioxide rebreathing technique, ventilator parameters
Singapore Med J 2008; 49(3):233-8

Factors affecting the palpability of breast lesion by self-examination

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Singapore Med J 2008; 49(3):228-32
Factors affecting the palpability of breast lesion by self-examination

Lam WWM, Chan CP, Chan CF, Mak CCC, Chan CF, Chong KWH, Leung MHJ, Tang MH 
Correspondence: Prof Wynnie Waiman Lam, wynnie@cuhk.edu.hk


ABSTRACT
Introduction: This study aims to assess the accuracy of detection of breast lesion by breast self-examination and to assess different factors affecting the accuracy.
Methods: All consecutive Chinese female patients, who attended our breast imaging unit in 2001, completed our questionnaire, had retrievable hard copy films, and had more than three years clinical follow-up, were recruited for this study. Different factors, such as age, menopausal status, previous experience of breastfeeding, family history of breast cancer, previous history of mastectomy or lumpectomy, hormonal therapy, oral contraceptive pills and previous history of mammography, were correlated with accuracy in self-detection of breast lesions retrospectively. The nature, size and location of the lesion, and breast size based on imaging, were also correlated with the accuracy in self-detection of breast lesions.
Results: A total of 163 questionnaires were analysed. 111 patients detected a breast lesion themselves and 24 of these lesions were false-positives. A total of 173 lesions (27 cancerous, 146 benign lesions) were documented by either ultrasonography and/or mammography, and confirmed by either histology or three-year clinical follow-up. The overall sensitivity in detecting both benign and malignant breast lesions was 71% when number of breast lesions was used as the denominator, and up to 78% sensitivity was achieved when number of patients was used as the denominator. History of mastectomy, and size and nature of the lesions were found to affect the accuracy of self-detection of breast lesions.
Conclusion: Overall, breast self-examinations were effective in the detection of breast lesions and factors such as size of lesion, nature of the lesion and history of mastectomy affect the accuracy of the detections. Breast self-examination should be promoted for early detection of breast cancer.
 

Keywords: breast cancer, breast lesion, breast self-examination
Singapore Med J 2008; 49(3):228-32

A cumulative embryo scoring system for the prediction of pregnancy outcome following intracytoplasmic sperm injection

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Singapore Med J 2008; 49(3):221-7
A cumulative embryo scoring system for the prediction of pregnancy outcome following intracytoplasmic sperm injection

Loi K, Prasath EB, Huang ZW, Loh SF, Loh SKE 
Correspondence: Dr Kelly Loi, kelly_loi@hotmail.com


ABSTRACT
Introduction: The ability to select the embryos that would lead to pregnancy would help to reduce multiple pregnancy rates. The objective was to evaluate the use of a cumulative embryo scoring system (CES) based on a five-point embryo scoring system for the prediction of pregnancy outcome following intracytoplasmic sperm injection (ICSI).
Methods: A retrospective cohort study was performed on 364 triple embryo transfers from fresh ICSI cycles only. Embryo quality was assessed using a five-point scoring system. The CES was the summation of the individual scores. For the purpose of analysis, these were categorised into three groups: CES group one (score 9-10), CES group two (score 11-13) and CES group three (score 14-15). Main outcome measures were clinical pregnancy, implantation, live-births and multiple birth rates.
Results: There was a trend towards better outcome with increasing CES scores. This trend was significant with CES groups one, two and three, corresponding with increasing pregnancy rates (30.3 vs. 45.1 vs. 51.7 percent), increasing implantation rates (12.4 vs. 20.5 vs. 21.8 percent), and increasing live-birth rates (12.4 vs. 26.4 vs. 31.0 percent). Age was also a significant independent predictor of clinical pregnancy. However, only CES group score was significant in predicting live-births, while age was significant in predicting multiple births.
Conclusion: CES based on the proposed five-point scoring system is useful for the prediction of pregnancy outcome in triple embryo transfers. In younger patients, a policy of transferring fewer embryos to reduce multiple births should be adopted.
 
Keywords: cumulative embryo score, intracytoplasmic sperm injection, live-births, multiple births, prediction of pregnancy outcome, triple embryo transfers 
Singapore Med J 2008; 49(3):221-7

Effects of cognitive-behavioural therapy on anxiety for children with high-functioning autistic spectrum disorders

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Singapore Med J 2008; 49(3):215-20
Effects of cognitive-behavioural therapy on anxiety for children with high-functioning autistic spectrum disorders

Ooi YP, Lam CM, Sung M, Tan WTS, Goh TJ, Fung DSS, Pathy P, Ang RP, Chua A 
Correspondence: Dr Min Sung, min_sung@imh.com.sg

ABSTRACT
Introduction: Children with autistic spectrum disorders (ASD) often exhibit one or more comorbid disorders, including anxiety, disruptive behaviour, mental retardation, and depression. Various studies have documented the effectiveness of cognitive-behavioural therapy (CBT) in treating children with anxiety. Although studies have indicated a high prevalence of anxiety in individuals with ASD, there is a lack of systematic studies substantiating the effectiveness of cognitive-behavioural interventions among children with high-functioning autism.
Methods: This pilot study investigated the effects of a 16-session CBT programme on six high-functioning children diagnosed with ASD (mean age 11.50 years, standard deviation 0.84 years). These children were diagnosed with ASD or Asperger's syndrome by the DSM-IV criteria. Measures on levels of child's anxiety, parental and teacher stress were administered at pre- and post-treatment.
Results: Children showed lower levels of anxiety at post-treatment. Parents and teachers also reported lower levels of stress following the CBT programme.
Conclusion: Findings from the present study provided some evidence of the effects of CBT for high-functioning autistic children in reducing anxiety, parental and teacher stress. Interpretation of the findings, recommendations for future research and implications of the present study are presented
 

Keywords: anxiety, autistic spectrum disorders,  cognitive-behavioural therapy, high-functioning  autism, stress
Singapore Med J 2008; 49(3):215-20

Detection of sensorineural hearing loss using automated auditory brainstem-evoked response and transient-evoked otoacoustic emission in term neonates with severe hyperbilirubinaemia

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Singapore Med J 2008; 49(3):209-4
Detection of sensorineural hearing loss using automated auditory brainstem-evoked response and transient-evoked otoacoustic emission in term neonates with severe hyperbilirubinaemia

Boo NY, Rohani AJ, Asma A
Correspondence: Prof Boo Nem Yun, nemyun_boo@imu.edu.my

ABSTRACT
Introduction: This study was designed to compare the sensitivity and specificity of detecting sensorineural hearing loss (SNHL) using the transient-evoked otoacoustic emissions (OAE) machine (the Madsen TE Echoscreen) and automated auditory brainstem response (AABR) machine (the Sabre Compac portable AABR) in term neonates exposed to severe hyperbilirubinaemia.
Methods: This was a prospective study carried out over a 30-month period in a neonatal intensive care unit. Term infants (gestation equal to or greater than 37 weeks) with severe hyperbilirubinaemia (peak total serum bilirubin level equal to or greater than 300 umol/L) were recruited. Hearing tests were carried out before discharge.
Results: The median age of the 250 study infants when OAE and AABR were tested, was eight days (IQR four days) and their median age when auditory brainstem-evoked response (ABR) was done was 58 days (IQR 56 days). Based on the findings of ABR, 32 (12.8 percent) infants had unilateral or bilateral SNHL. There was no significant difference in the peak total serum bilirubin levels between infants with SNHL (median 333 umol/L, IQR 57) and those without (median 340 umol/L, IQR: 58) (p-value is 0.3). The sensitivity of OAE for detecting SNHL was 15.9 percent, and its specificity 95.2 percent. The sensitivity of the Sabre Compac portable AABR machine for detecting SNHL was 40.9 percent and its specificity was 63.2 percent.
Conclusion: Both the OAE machine and the Sabre AABR machine were not sensitive enough for mass screening of SNHL in infants exposed to severe hyperbilirubinaemia.


Keywords: automated auditory brainstem  response, hearing loss, otoacoustic emissions,  severe hyperbilirubinaemia, transient-evoked  otoacoustic emissions
Singapore Med J 2008; 49(3):209-4

Usefulness of a semi-quantitative procalcitonin test kit for early diagnosis of neonatal sepsis

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Singapore Med J 2008; 49(3): 204-8
Usefulness of a semi-quantitative procalcitonin test kit for early diagnosis of neonatal sepsis

Boo NY, Nor Azlina AA, Rohana J
Correspondence: Prof Boo Nem Yun, nemyun_boo@imu.edu.my


ABSTRACT
Introduction: This study was designed to determine the sensitivity and specificity of a semi-quantitative procalcitonin (PCT) test kit for the diagnosis of neonatal sepsis.
Methods: Infants admitted to the neonatal intensive care unit with signs suggestive of sepsis were recruited into the study. Prior to commencement on antibiotics, the following investigations were carried out on each of these infants: blood culture and sensitivity, PCT semi-quantitation and C-reactive protein (CRP) estimation. Infants already on antibiotics, or who developed signs of sepsis within 72 hours of discontinuation of antibiotics, were excluded from the study.
Results: Of the 87 infants recruited, 18 (20.7 percent) were confirmed to have sepsis based on positive blood culture results. At a PCT cut-off level of greater than or equal to 2 ng/ml, the sensitivity of the PCT-Q kit in detecting neonatal sepsis at the onset of symptoms was 88.9 percent and its specificity was 65.2 percent. The sensitivity of CRP for diagnosis of sepsis was 55.6 percent and its specificity was 89.9 percent.
Conclusion: The semi-quantitative PCT test kit is of moderate sensitivity but poor specificity for early diagnosis of neonatal sepsis. A negative PCT test result may help to "rule out", while a raised CRP result helps to "rule in", the possibility of sepsis.
 

Keywords: neonatal sepsis, procalcitonin, semiquantitative test kit
Singapore Med J 2008; 49(3): 204-8