Awake tracheal intubation in a patient with a supraglottic mass with the Bonfils fibrescope after failed attempts with a flexible fibrescope

Awake intubation with a flexible fibrescope is usually done electively in patients with a known difficult airway. Herein, we describe the case of an elective awake tracheal intubation that was performed on a patient with a large, obstructive supraglottic mass. The intubation was successfully performed using the Bonfils fibrescope after several failed attempts with a flexible fibrescope. This case highlights the usefulness of the Bonfils fibrescope and the limitations of the flexible fibrescope in certain clinical situations.     

Dietary sodium intake in a multiethnic Asian population of healthy participants and chronic kidney disease patients

INTRODUCTION

Clinical practice guidelines recommend dietary sodium restriction in chronic kidney disease (CKD) patients. Compliance with this recommendation in a multiethnic Asian population is not clear. This study assessed the urinary sodium excretion profile of a multiethnic Asian population to estimate the population’s dietary sodium intake.

METHODS

Data on the urinary sodium excretion of 335 participants were obtained from the Asian Kidney Disease Study and Singapore Kidney Function Study. Standard statistical tests and linear regression were used to assess the association between various continuous variables and sodium excretion.

RESULTS

Our study cohort consisted of 335 participants (232 with CKD, 103 healthy) – 51.0% were male; 38.5% were Chinese, 29.6% were Malay, 23.6% were Indian; and 57.3% were hypertensive. The mean age was 53.5 ± 15.1 years and mean urinary sodium excretion was 124.9 ± 68.3 mmol/day. The mean blood pressure of the healthy participants was lower than that of the patients with CKD (p < 0.001). Patients with CKD stages 1–3 excreted an average of > 100 mmol sodium/day. Overall, 40.1% patients with CKD excreted < 100 mmol sodium/day. Indians had higher urinary sodium excretion than the Chinese (p = 0.016) and Malays (p = 0.002). The distribution of urinary sodium excretion in the healthy participants (37.9% excreted < 100 mmol sodium/day) was similar to that seen in the patients with CKD.

CONCLUSION

Although patients with CKD stages 4–5 achieved sodium restriction, healthy persons and patients with early-stage CKD need to increase their efforts in reducing their sodium intake, especially for patients of Indian ethnicity.     

The potential for a controlled human infection platform in Singapore

For over 100 years, controlled human infection (CHI) studies have been performed to advance the understanding of the pathogenesis, treatment and prevention of infectious diseases. This methodology has seen a resurgence, as it offers an efficient model for selecting the most promising agents for further development from available candidates. CHI studies are utilised to bridge safety and immunogenicity testing and phase II/III efficacy studies. However, as this platform is not currently utilised in Asia, opportunities to study therapeutics and vaccines for infections that are important in Asia are missed. This review examines the regulatory differences for CHI studies between countries and summarises other regulatory differences in clinical trials as a whole. We found that the regulations that would apply to CHI studies in Singapore closely mirror those in the United Kingdom, and conclude that the regulatory and ethical guidelines in Singapore are compatible with the conduct of CHI studies.     

Common polymorphisms in GSTM1, GSTT1, GSTP1, GSTA1 and susceptibility to colorectal cancer in the Central European population

Background

Central Europe presents with the highest incidence of sporadic colorectal cancer (CRC) worldwide. As sporadic CRC represents a typical multifactorial disease, it is characterized by intense interaction of the genetic background with the environment. Glutathione S-transferases could act as attractive susceptibility genes for CRC, as they are directly involved in conjugation between glutathione and chemotherapeutics, environmental pollutants and a wide spectrum of xenobiotics.

Methods

In this study, we investigated associations of polymorphisms in glutathione S-transferases (GSTs) genes, that is GSTA1, GSTT1, GSTM1 and GSTP1, with CRC in a total of 197 cases and 218 controls originating from the Czech Central European population. Polymorphisms were assessed by polymerase chain reaction/restriction fragment length polymorphism-based methods, allele-specific multiplex and allelic discrimination by real-time polymerase chain reaction.

Results

None of investigated polymorphisms showed any associations with CRC, with the exception of GSTP1; where the heterozygote genotype Ile105Val was associated with decreased risk of CRC (P = 0.043).

Conclusions

The frequencies observed in our study are in accordance with those from other European Caucasian populations. Based on our studies, examined variability in GST genes is not a major determinant of CRC susceptibility in the Central European population.     

Post-thyroidectomy neck ultrasonography in patients with thyroid cancer and a review of the literature

The importance of routine neck ultrasonography for the detection of unsuspected local or nodal recurrence of thyroid cancer following thyroidectomy (with or without neck dissection) is well documented in many journal articles and international guidelines. Herein, we present a pictorial summary of the sonographic features of benign and malignant central neck compartment nodules and cervical lymph nodes via a series of high-quality ultra-sonographic images, with a review of the literature.     

Distribution of branchial anomalies in a paediatric Asian population

INTRODUCTION

The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies.

METHODS

This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review.

RESULTS

A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification.

CONCLUSION

The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly.     

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

INTRODUCTION

First trimester screening (FTS) is a validated screening tool that has been shown to achieve detection rates of 84%–90% for trisomies 21, 18 and 13. However, its effectiveness for different maternal ages has not been assessed. The present study aimed to assess the performance of FTS in an Asian population, and to compare its effectiveness in older (≥ 35 years) and younger (< 35 years) women. The potential use of noninvasive prenatal test (NIPT) as a contingent screening test is also examined.

METHODS

Data on cases of FTS performed on singleton pregnancies over a six-year period was collated from two Singapore maternal centres, National University Hospital and Singapore General Hospital. Cases that had a 1:250 risk of trisomy were considered to be screen-positive. Pregnancy outcomes were obtained from birth records or karyotype test results.

RESULTS

From 10,289 FTS cases, we obtained a sensitivity of 87.8%, a specificity of 97.6%, a false positive rate of 2.4% and a false negative rate of 0.06% for the detection of aneuploidy. The overall detection rate for trisomy 21 was 86.5%–85.7% for older women and 87.5% for younger women. The mean number of invasive tests required per case of trisomy 21 was 9.3 in younger women, 8.6 in older women and 13.5 in women with intermediate risk (1:250–1,000).

CONCLUSION

While the performance of FTS was similar in younger and older women, more invasive procedures were required to diagnose trisomy 21 in women with intermediate risk. It may be advantageous to offer contingent NIPT to this group of women to reduce the risk of iatrogenic fetal loss.     

Myopia in young patients with type 1 diabetes mellitus

INTRODUCTION

This study aimed to evaluate the proportion of young patients with type 1 diabetes mellitus (T1DM) who have myopia, as well as the risk factors associated with myopia in this group.

METHODS

In this cross-sectional study, patients aged < 21 years with T1DM for ≥ 1 year underwent a comprehensive eye examination. Presence of parental myopia, and average hours of near-work and outdoor activity were estimated using a questionnaire. Annualised glycosylated haemoglobin (HbA1c), defined as the mean of the last three HbA1c readings taken over the last year, was calculated. Multivariate analysis using genetic, environmental and diabetes-related factors was done to evaluate risk factors associated with myopia.

RESULTS

Of the 146 patients (mean age 12.5 ± 3.6 years) recruited, 66.4% were Chinese and 57.5% were female. Myopia (i.e. spherical equivalent [SE] of –0.50 D or worse) was present in 96 (65.8%) patients. The proportion of patients with myopia increased from 25.0% and 53.6% in those aged < 7.0 years and 7.0–9.9 years, respectively, to 59.2% and 78.4% in those aged 10.0–11.9 years and ≥ 12.0 years, respectively. Higher levels of SE were associated with lower parental myopia (p = 0.024) and higher annualised HbA1c (p = 0.011).

CONCLUSION

Compared to the background population, the proportion of myopia in young patients with T1DM was higher in those aged < 10 years but similar in the older age group. Myopia was associated with a history of parental myopia. Environmental risk factors and poor glycaemic control were not related to higher myopia risk.     

Production of a polyclonal antibody against osteogenic protein-1, and its role in the diagnosis of osteoarthritis

INTRODUCTION

Osteoarthritis (OA) is a progressive degenerative disorder of the articular cartilage. Available diagnostic radiography has been poorly associated with the progress and severity of this clinical disease. As osteogenic protein-1 (OP-1) has been identified as a bone morphogenetic protein with a major role in cartilage repair, we aimed to evaluate its potential role in the diagnosis of OA.

METHODS

This was an experimental study conducted at the Department of Biochemistry, Sikkim Manipal Institute of Medical Sciences, India. Polyclonal antibodies (i.e. anti-OP-1[f]) were raised against OP-1 in mice, and subsequently used in a sandwich enzyme-linked immunosorbent assay (ELISA) to detect the presence of OP-1 in the synovial fluids of 75 osteoarthritic patients. For the purpose of correlation, the radiographic assessments of the knees of the 75 patients were graded using the Kellgren-Lawrence scoring system.

RESULT

The polyclonal antibody (i.e. anti-OP-1[f]) raised against OP-1 was able to detect the presence of OP-1 in the synovial fluids of all the osteoarthritic patients via sandwich ELISA. The level of the OP-1 was found to be much higher than the reference range and correlated positively with the severity of OA (r = 0.24; p = 0.04).

CONCLUSION

Our study shows that the polyclonal antibody, anti OP-1(f), could be used for the immunodiagnosis of osteoarthritis via sandwich ELISA.     

Increased serum visfatin as a risk factor for atherosclerosis in patients with ischaemic cerebrovascular disease

INTRODUCTION

The present study aimed to investigate the possible associations between serum levels of visfatin, an adipokine, and atherosclerosis in patients with ischaemic cerebrovascular disease.

METHODS

A total of 95 participants were recruited for this study. Group A comprised 35 individuals with no history of cerebrovascular disease (control group) and Group B comprised 60 patients with ischaemic cerebrovascular disease. Group B was further categorised into two subgroups based on the ultrasonographic findings of the common carotid artery intima-media thickness (CCA-IMT) – Group B1 consisted of 21 patients with no atherosclerosis (i.e. CCA-IMT ≤ 0.9 mm) and Group B2 consisted of 39 patients with atherosclerosis (i.e. CCA-IMT > 0.9 mm). The body mass index, fasting blood total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol and glucose levels of each patient were measured. Serum visfatin levels were determined using enzyme-linked immunosorbent assays. Visfatin levels were compared between groups, and stepwise logistic regression analysis was used to identify risk factors for atherosclerosis, including visfatin levels.

RESULTS

The mean serum visfatin level of the patients in Group B was higher than that in Group A (75.5 ± 77.80 ng/mL vs. 8.6 ± 4.69 ng/mL; p < 0.05) and the level was higher in patients from Group B2 than those from Group B1 (89.0 ± 80.68 ng/mL vs. 50.4 ± 72.44 ng/mL; p < 0.05). Multivariate regression analysis showed that CCA-IMT values were not significantly associated with visfatin levels. However, logistic regression analysis showed that serum visfatin was an independent risk factor for atherosclerosis (odds ratio 37.80; p = 0.004).

CONCLUSION

Serum visfatin may be an independent risk factor for cerebral infarction, as high serum visfatin levels are positively associated with the underlying pathogenic mechanisms of ischaemic cerebrovascular disease.     

Overlap syndrome between chronic obstructive pulmonary disease and obstructive sleep apnoea in a Southeast Asian teaching hospital

INTRODUCTION

Overlap syndrome between obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD) is important but under-recognised. We aimed to determine the prevalence of overlap syndrome and the predictors of OSA in patients with COPD.

METHODS

Patients aged ≥ 40 years were recruited from a dedicated COPD clinic and underwent overnight polysomnography. A diagnosis of OSA was made when apnoea-hypopnoea index (AHI) was ≥ 5.

RESULTS

In all, 22 patients (aged 71 ± 9 years), predominantly men, were recruited. Mean values recorded were predicted forced expiratory volume in the first second percentage 55 ± 15; body mass index 23.7 ± 6.5 kg/m²; Epworth Sleepiness Scale score 5.6 ± 5.8; and AHI 15.8 ± 18.6. Among the 14 patients with OSA (prevalence of overlap syndrome at 63.6%), the mean number of hospital visits for COPD exacerbations in the preceding one year was 0.5 ± 0.7. Patients with overlap syndrome had worse modified Medical Research Council dyspnoea scale scores and a lower percentage of rapid eye movement (REM) sleep than patients without. There were no other statistical differences in lung function or sleep study indices between the two patient groups.

CONCLUSION

The majority of our patients had overlap syndrome and minimal exacerbations, and were not obese or sleepy. Significant differences between patients with and without overlap syndrome were seen in two aspects – the former was more dyspnoeic and had less REM sleep. Our findings suggest that standard clinical predictors cannot be used for patients with overlap syndrome, and therefore, a high index of suspicion is needed.     

A review of oral food challenges in children presenting to a single tertiary centre with perceived or true food allergies

INTRODUCTION

The prevalence of perceived food allergies exceeds that of true food allergies. Unnecessary food avoidance may increase parental and patient anxiety, reduce quality of life and increase the risk of nutritional deficiency. An oral food challenge (OFC) can provide an objective measure regarding the presence or absence of food allergies in a child. This study reviews the indications for and outcomes of OFCs performed on children.

METHODS

A retrospective review was performed on all children who underwent OFCs at the Allergy Unit of the National University Hospital, Singapore, over a three-year period.

RESULTS

A total of 197 OFCs were performed among 58 patients (34 male, 24 female). Most of the tests were for allergies to tree nuts (n = 107). Among the OFCs, 43.1% were for foods that were avoided and never eaten due to perceived food allergies, 25.9% were for foods that had previously resulted in positive skin prick tests (SPTs) and/or immunoassay results, 16.2% were for foods thought to worsen eczema and 14.7% were for foods thought to have caused a previous reaction. Of all the OFCs, 5% were positive, although adverse reactions were mostly cutaneous. Challenge-positive patients had either positive SPTs (wheal > 3 mm) or raised serum immunoglobulin E levels to specific foods that they reacted to during the challenges. No episodes of anaphylaxis were reported after the challenge. Most of the patients were able to safely introduce the avoided foods into their diets.

CONCLUSION

OFCs provide an objective assessment for suspected food allergies.     

Subcutaneous abscess due to Pyrenochaeta romeroi in a renal transplant recipient

An infective aetiology, including fungal infection, should be considered in the differential diagnosis of immunocompromised patients presenting with skin lesions. Dematiaceous fungi are recognised as pathogens in organ transplant recipients. Herein, we describe a rare case of a chronic necrotising granulomatous skin lesion caused by Pyrenochaeta romeroi in a renal transplant recipient, and review the existing literature on the topic. To the best of our knowledge, this is the first report of such a case in Singapore. Recognition of infections caused by dematiaceous fungi is important because some strains are difficult to identify and require special molecular diagnostic techniques. Treatment involves surgical excision and long-term antifungal therapy. Data on the optimal antifungal regimen in such a diagnosis is limited.     

Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population

Background

Dilated cardiomyopathy (DCM) has been extensively investigated for many years, but its pathogenesis remains uncertain. The ACTC1 gene was the first sarcomeric gene whose mutation was shown to cause DCM; recent studies have indicated that the HSPB7 and ZBTB17 genes are also associated with DCM. To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1.

Methods

A total of 97 DCM patients and 189 controls were included in the study. All SNPs were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS).

Results

The genotype of SNP rs10927875 in ZBTB17 (OR=5.19, 95% CI =1.00 to 27.03, P=0.05) was associated with DCM in a Han Chinese population. There was no difference in genotype or allele frequencies in ACTC1 or HSPB7 between DCM patients and control subjects.

Conclusion

The ZBTB17 polymorphism rs10927875 appears to play a role in the susceptibility of the Han Chinese population to DCM.     

血浆长链非编码RNA HOTAIR是乳腺癌诊断的潜在生物标志物

目的探讨长链非编码RNA HOTAIR在乳腺癌血浆中的表达情况及其对乳腺癌的潜在诊断价值。方法首先采用实时定 量PCR（RT-PCR）的方法检测HOTAIR在24例乳腺癌组织和70例乳腺癌血浆中的表达情况,分析血浆HOTAIR与临床病理特 征相关性;其次采用电化学发光免疫测定法检测血浆中CEA、CA153水平,并建立多元逻辑回归模型分析血浆中HOTAIR相对 于传统标记物CEA和CA153对乳腺癌诊断价值及3项指标联合后诊断价值;最后采用定量PCR的方法检测24位乳腺癌患者术 前和术后血浆中HOTAIR表达水平,并分析24位乳腺癌患者血浆中HOTAIR与组织表达相关性,以评价血浆中的HOTAIR对 患者体内肿瘤动态监测情况。结果与对照组相比,HOTAIR在乳腺癌组织和血浆中表达增高,且血浆中HOTAIR的表达水平 与雌激素受体（ER）（P=0.004）和淋巴结转移明显相关（P=0.010）。通过对血浆中高表达的HOTAIR、CEA及CA153绘制ROC 曲线并建立多元逻辑回归模型,发现HOTAIR曲线下面积（AUC）为0.82（P<0.001）,灵敏度和特异性分别为73.3%和93.3%,其 诊断价值高于传统标记物CA153（AUC=0.66,P=0.030）和CEA（AUC=0.52,P=0.001）,且3项指标联合后诊断效能（AUC=0.84） 和特异度（96.7%）高于HOTAIR 单独检测。此外,术后血浆中HOTAIR 表达水平较术前明显降低（P<0.0001）,且血浆中 HOTAIR表达水平与体内肿瘤表达中度相关（r=0.62,P<0.0001）。结论血浆中高表达的HOTAIR可作为乳腺癌诊断的一个潜 在的新型生物标志物。     

Clinical characteristics,outcome and early induction deaths in patients with acute promyelocytic leukaemia: a five-year experience at a tertiary care centre

INTRODUCTION

Acute promyelocytic leukaemia (APL) is a distinct clinical and biological subtype of acute myeloid leukaemia. APL is notorious for causing early death during induction therapy, resulting in induction failure. The aim of our study was to report the clinical characteristics, outcome and early induction deaths with regard to patients with APL seen at our hospital.

METHODS

This was a retrospective study carried out at Aga Khan University Hospital, Karachi, Pakistan. Patients aged > 15 years diagnosed with APL within the period September 2007–September 2012 were included in the study.

RESULTS

Within the study period, 26 patients were diagnosed with APL based on morphology and the detection of t(15;17)(q24.1;q21.1) and promyelocytic leukaemia-retinoic acid receptor alpha (PML-RARA). The male to female ratio was 1:1. The median age of the patients was 41 (range 16–72) years. In all, there were 13 (50.0%) high-risk patients, and early induction death rate was 61.5%. Causes of early induction deaths (n = 16) included haemorrhage in 7 (43.8%) patients, differentiation (ATRA) syndrome in 7 (43.8%) and infection in 2 (12.5%). The survival rate among patients who survived the early period was 70% at 42 months. The relapse rate was 30%.

CONCLUSION

Early induction death rate was very high in patients with APL. The most common cause of early induction death in our study was haemorrhage. Outcome among patients with APL was found to be better among those who survived the initial period.     

Anaesthetic management of a premature low-birth-weight neonate with congenital complete heart block for implantation of temporary epicardial pacing wires

The optimal anaesthetic management of neonates with complete congenital heart block (CCHB) is unknown, as there is a low incidence of such cases. Neonates with CCHB often require surgery for the initiation of electronic pacing. In addition to the challenges of anaesthetising a neonate, this procedure is risky due to the potential for hypotension, arrhythmias and cardiac arrest. We herein present the case of a premature low-birth-weight neonate with antibody-related CCHB and normal heart structure who underwent anaesthesia and surgery for epicardial pacing wire insertion on Day 1 of life. We also compare our patient’s anaesthetic conduct and outcome with similar previously reported cases.     

Intra-arterial calcium stimulation test with hepatic venous sampling for preoperative diagnosis of a large insulinoma in an obese young man

Herein, we report the case of a large benign insulinoma in an obese young man with a three-year history of asymptomatic hypoglycaemia. He presented to our outpatient department with a two-week history of dizziness and morning cold sweats. A random serum glucose test revealed hypoglycaemia. Upon admission, computed tomography and magnetic resonance imaging of the abdomen with intravenous contrast media showed an enhancing mass lesion in the uncinate process of the pancreas. To confirm the diagnosis, an intra-arterial calcium stimulation test with hepatic venous sampling was performed for preoperative localisation and to exclude the presence of occult insulinomas. The patient underwent an exploratory laparotomy, with successful resection of the pancreatic head tumour. Histology confirmed the diagnosis of insulinoma. The patient’s postoperative recovery was uneventful, and he has not developed further episodes of hypoglycaemia three years post surgery.     

The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China

Background

The screening of BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer, early-onset breast cancer and bilateral breast cancer patients. There is still some controversy about whether this screening should be done in triple-negative breast cancers. Therefore, we evaluated the BRCA mutation prevalence in patients with triple-negative breast cancer in a multi-ethnic region of China.

Methods

A total 96 women who were diagnosed with triple-negative breast cancer in the Xinjiang region of China were enrolled in this study. BRCA1 and BRCA2 screening was performed by polymerase chain reaction-denaturing high-performance liquid chromatography (PCR-DHPLC) sequencing analysis. All mutations were confirmed with direct sequencing.

Results

The prevalence of a BRCA1/2 germline mutation was about 25% (24/96) in the Xinjiang region of China. Among 35 selected cases with a family history and/or bilateral breast cancers, the BRCA1/2 mutation prevalence was 25.7% (9/35). Of the remaining 61 patients with unselected triple-negative breast cancer, the BRCA1/2 mutation prevalence was 24.6% (15/61), and all 15 individuals with these mutations were premenopausal patients.

Conclusions

These results suggest that premenopausal women with triple-negative breast cancer may be candidates for genetic testing for BRCA1/2 in the Xinjiang region of China, even in the absence of a family history or bilateral breast cancer.