Gender differences in osteoporotic hip fractures in Sarawak General Hospital.

INTRODUCTION: Osteoporosis and osteoporotic fracture pose a major public health problem in our ageing population, and particularly concerning is the increased morbidity and mortality associated with osteoporotic hip fractures. While overall diagnosis and treatment for osteoporosis have improved, osteoporosis in men remains underdiagnosed and undertreated. We aim to describe the difference in clinical characteristics between elderly men and women with osteoporotic hip fractures in Sarawak General Hospital. MATERIALS AND METHODS: All patients diagnosed with osteoporotic hip fracture admitted to Sarawak General Hospital from June 2019 to March 2021 were recruited, and demographic data and clinical features were obtained. RESULTS: There were 140 patients with osteoporotic hip fracture, and 40 were men (28.6%). The mean age for males was 74.1 ± 9.5 years, while the mean age for females was 77.4 ± 9.1 years (p=0.06). The types of fracture consisted of neck of femur=78, intertrochanteric=61 and subtrochanteric=1. More men were active smokers (15% vs 1%, p<0.001). There were 20 men with secondary osteoporosis (50%), while 13 women (13%) had secondary osteoporosis (p<0.001). The causes of secondary osteoporosis among the men were hypogonadism, COPD, glucocorticoid-induced osteoporosis, renal disease, androgen deprivation therapy, thyroid disorder, prostate cancer and previous gastrectomy. There were two deaths among the men and four deaths among the women during the inpatient and 3 months follow-up period. There was no statistical significance between the mortality rates between male patients (5%) and female patients (4%) (p=0.55). CONCLUSION: There were more females with osteoporotic hip fractures, and there were significantly more males with secondary osteoporotic hip fractures.

Determining the Degree of Dopaminergic Denervation Based on the Loss of Nigral Hyperintensity on SMWI in Parkinsonism.

BACKGROUND AND PURPOSE: Nigrostriatal dopaminergic function in patients with Parkinson disease can be assessed using 123I-2ß-carbomethoxy-3ß-(4-iodophenyl)-N-(3-fluoropropyl)-nortropan dopamine transporter (123I-FP-CIT) SPECT, and a good correlation has been demonstrated between nigral status on SWI and dopaminergic denervation on 123I-FP-CIT SPECT. Here, we aim to correlate quantified dopamine transporter attenuation on 123I-FP-CIT SPECT with nigrosome-1 status using susceptibility map-weighted imaging (SMWI). MATERIALS AND METHODS: Between May 2017 and January 2018, consecutive patients with idiopathic Parkinson disease (n = 109) and control participants (n = 29) who underwent 123I-FP-CIT SPECT with concurrent 3T SWI were included. SMWI was generated from SWI. Two neuroradiologists evaluated nigral hyperintensity from nigrosome-1 on each side of the substantia nigra. Using consensus reading, we compared the 123I-FP-CIT-specific binding ratio according to nigral hyperintensity status and the 123I-FP-CIT specific binding ratio threshold to confirm the loss of nigral hyperintensity was determined using receiver operating characteristic curve analysis. RESULTS: The concordance rate between SMWI and 123I-FP-CIT SPECT was 65.9%. The 123I-FP-CIT-specific binding ratios in the striatum, caudate nucleus, and putamen were significantly lower when nigral hyperintensity in the ipsilateral substantia nigra was absent than when present (all, P < .001). The 123I-FP-CIT-specific binding ratio threshold values for the determination of nigral hyperintensity loss were 2.56 in the striatum (area under the curve, 0.890), 3.07 in the caudate nucleus (0.830), and 2.36 in the putamen (0.887). CONCLUSIONS: Nigral hyperintensity on SMWI showed high positive predictive value and low negative predictive value with dopaminergic degeneration on 123I-FP-CIT SPECT. In patients with Parkinson disease, the loss of nigral hyperintensity is prominent in patients with lower striatal specific binding ratios.

18F-NaF PET/CT for the evaluation of temporomandibular joint disorder.

AIM: To investigate the usefulness of a quantitative parameter (maximum standardised uptake value [SUVmax]) of 18F-sodium fluoride (NaF) positron-emission tomography (PET)/computed tomography (CT) for the evaluation of temporomandibular joint (TMJ) disorder (TMD). MATERIALS AND METHODS: Seventy-six TMD patients (male: female=14:62, age=40.3±17.1 years, bilateral: unilateral=40:36) with 152 TMJs were enrolled. The 18F-NaF PET/CT parameter (SUVmax) was compared with the presence of TMJ arthralgia (arthralgic=86, non-arthralgic=66) and clinical subtypes based on the Research Diagnostic Criteria for TMD Axis I (TMD osteoarthritis=49, non-TMD osteoarthritis=67, and asymptomatic TMJ=36). Splint therapy was applied to 48 patients for 6 months without considering 18F-NaF PET/CT findings. Post-splint therapy 18F-NaF PET/CT was performed in 32 patients and clinical responses to the therapy were classified into improvement (n=33), no change (n=10), or aggravation (n=7) for 50 TMJs excluding asymptomatic TMJs (n=14). RESULTS: SUVmax was significantly greater in arthralgic TMJs than in non-arthralgic TMJs (6.62±3.56 versus 4.32±1.53, p<0.0001). SUVmax was also significantly greater in TMD osteoarthritis (6.75±3.85) than in non-TMD osteoarthritis (5.21±2.70) and asymptomatic TMJs (4.86±1.99; p=0.0386). After splint therapy, SUVmax was significantly increased in aggravated TMJs (from 7.80±3.72 to 11.00±5.74, p=0.0156), whereas no significant change in SUVmax was observed in improved (from 6.16±2.68 to 6.09±2.60, p=0.4915) and unchanged (from 6.46±4.19 to 6.77±4.32, p=0.3223) TMJs. CONCLUSIONS: 18F-NaF PET/CT is a useful imaging tool for TMD evaluation because SUVmax showed a fair diagnostic performance for arthralgic TMJ and TMD osteoarthritis, and a correlation with the therapeutic response.

Validation of the Vectra H1 portable three-dimensional photogrammetry system for facial imaging.

Three-dimensional (3D) surface imaging using stereophotogrammetry has become increasingly popular in clinical settings, offering advantages for surgical planning and outcome evaluation. The handheld Vectra H1 is a low-cost, highly portable system that offers several advantages over larger stationary cameras, but independent technical validation is currently lacking. In this study, 3D facial images of 26 adult participants were captured with the Vectra H1 system and the previously validated 3dMDface system. Using error magnitude statistics, 136 linear distances were compared between cameras. In addition, 3D facial surfaces from each system were registered, heat maps generated, and global root mean square (RMS) error calculated. The 136 distances were highly comparable across the two cameras, with an average technical error of measurement (TEM) value of 0.84mm (range 0.19-1.54mm). The average RMS value of the 26 surface-to-surface comparisons was 0.43mm (range 0.33-0.59mm). In each case, the vast majority of the facial surface differences were within a ±1mm threshold. Areas exceeding ±1mm were generally limited to facial regions containing hair or subject to facial microexpressions. These results indicate that 3D facial surface images acquired with the Vectra H1 system are sufficiently accurate for most clinical applications.

Maximum standardised uptake value of quantitative bone SPECT/CT in patients with medial compartment osteoarthritis of the knee.

AIM: To evaluate the correlation between the maximum standardised uptake value (SUVmax) from bone single-photon-emission computed tomography/computed tomography (SPECT/CT) and other imaging parameters for medial compartment osteoarthritis (OA) of the knee. MATERIALS AND METHODS: Patients (n=26; male:female=2:24; age, 55.3±5.8 years) underwent quantitative knee SPECT/CT using technetium-99m (Tc-99m) hydroxymethylene diphosphonate (HDP) before surgical operation for medial OA of the knee. SUVmax was calculated using dedicated quantitative software. Visual grades of tracer uptake on bone SPECT/CT and Kellgren-Lawrence (KL) OA scores on plain radiographs were assessed using a five-point scale. Magnetic resonance imaging (MRI) scores (n=22) and patient symptom scores were also assessed. RESULTS: The operated knees (n=34) had a greater SUVmax than the non-operated knees (n=18) in the medial compartment (14.1±6.1 versus 5.3±4.4, p<0.0001). In the medial compartment, the SUVmax was significantly correlated with SPECT/CT visual grades (rho=0.794, p<0.0001), KL scores (rho=0.703, p<0.0001), and MRI scores (rho=0.714-0.808, p≤0.0002); however, SUVmax and other imaging parameters were not correlated with patient symptom scores (p>0.05). CONCLUSIONS: The SUVmax of quantitative bone SPECT/CT was highly correlated with traditional imaging parameters for medial compartment OA severity of the knee. Quantitative bone SPECT/CT is a promising imaging technique for the objective assessment of knee OA.

Does serum uric acid act as a modulator of cerebrospinal fluid Alzheimer's disease biomarker related cognitive decline?

BACKGROUND AND PURPOSE: The association of serum uric acid, cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) and longitudinal cognitive decline was evaluated using the AD Neuroimaging Initiative database. METHODS: In 271 healthy subjects, 596 mild cognitive impairment patients and 197 AD patients, serum uric acid and CSF AD biomarkers were measured at baseline, and Mini-Mental State Examination and AD Assessment Scale - Cognitive Subscale (ADAS-cog) were assessed serially (mean duration, 2.9 years). The effect of uric acid on longitudinal cognitive decline was evaluated using linear mixed effect models for Mini-Mental State Examination and ADAS-cog scores in female and male subjects separately, with possible confounders controlled (model 1). To determine the effects of uric acid independent of CSF biomarker (Aß1-42 or tau) and to test whether the detrimental effects of CSF biomarker differ according to uric acid, CSF biomarker and its interaction with uric acid were further included in model 1 (model 2). RESULTS: Higher levels of uric acid were associated with slower cognitive decline, particularly in the mild cognitive impairment and dementia subgroups, and more prominently in female subjects. Model 2 with CSF Aß1-42 showed that higher levels of uric acid were associated with a slower cognitive decline and alleviated the detrimental effect of Aß1-42 on cognitive decline. Model 2 with CSF tau showed that higher levels of uric acid alleviated the detrimental effect of tau on cognitive decline in female subjects but not in male subjects. CONCLUSION: Higher levels of uric acid had protective effects on longitudinal cognitive decline independent of and interactively with CSF AD biomarkers.

Surface-enhanced Raman spectroscopy of novel psychoactive substances using polymer-stabilized Ag nanoparticle aggregates.

A set of seized "legal high" samples and pure novel psychoactive substances have been examined by surface-enhanced Raman spectroscopy using polymer-stabilized Ag nanoparticle (Poly-SERS) films. The films both quenched fluorescence in bulk samples and allowed identification of µg quantities of drugs collected with wet swabs from contaminated surfaces.

Long-term control of diabetes in immunosuppressed nonhuman primates (NHP) by the transplantation of adult porcine islets.

Pig islets are an alternative source for islet transplantation to treat type 1 diabetes (T1D), but reproducible curative potential in the pig-to-nonhuman primate (NHP) model has not been demonstrated. Here, we report that pig islet grafts survived and maintained normoglycemia for >6 months in four of five consecutive immunosuppressed NHPs. Pig islets were isolated from designated pathogen-free (DPF) miniature pigs and infused intraportally into streptozotocin-induced diabetic rhesus monkeys under pretreatment with cobra venom factor (CVF), anti-thymocyte globulin (ATG) induction and maintenance with anti-CD154 monoclonal antibody and low-dose sirolimus. Ex vivo expanded autologous regulatory T cells were adoptively transferred in three recipients. Blood glucose levels were promptly normalized in all five monkeys and normoglycemia (90-110 mg/dL) was maintained for >6 months in four cases, the longest currently up to 603 days. Intravenous glucose tolerance tests during the follow-up period showed excellent glucose disposal capacity and porcine C-peptide responses. Adoptive transfer of autologous regulatory T cells was likely to be associated with more stable and durable normoglycemia. Importantly, the recipients showed no serious adverse effects. Taken together, our results confirm the clinical feasibility of pig islet transplantation to treat T1D patients without the need for excessive immunosuppressive therapy.

Experimental demonstration of energy-chirp control in relativistic electron bunches using a corrugated pipe.

The first experimental study is presented of a corrugated wall device that uses wakefields to remove a linear energy correlation in a relativistic electron beam (a "dechirper"). Time-resolved measurements of both longitudinal and transverse wakefields of the device are presented and compared with simulations. This study demonstrates the feasibility to employ a dechirper for precise control of the beam phase space in the next generation of free-electron-lasers.

Atypical diffusion-restricted lesion in 5-Fluorouracil encephalopathy.

Central nervous system toxicity of 5-FU could show various manifestations, such as decreased alertness, disorientation, and agitation. It is generally accepted that lesions of 5-FU encephalopathy are mainly in the deep cerebral white matter and corpus callosum on MR imaging. Here we describe a case of 5-FU encephalopathy in gastric cancer with an atypical reversible diffusion-restricted lesion on MR imaging, showing bilateral basal ganglia, thalami, and parasagittal frontal cortex involvement on diffusion and T2-weighted imaging.

Differences in the prevalence of colorectal polyps in patients undergoing endoscopic removal of gastric adenoma or early gastric cancer and in healthy individuals.

BACKGROUND AND AIMS: We compared the prevalence of adenomatous and cancerous colon polyps in patients who underwent endoscopic removal of gastric neoplasms and in healthy controls. MATERIALS AND METHODS: This retrospective study reviewed the medical records of 186 patients with gastric neoplasms and 186 healthy subjects from January 2002 to October 2008. The gastric neoplasm group was comprised of patients undergoing endoscopic removal of gastric adenomas or early gastric cancers and serial fiberoptic colonoscopy (FCS) for checkups. The control group was comprised of subjects undergoing fiberoptic esophagogastroduodenoscopy (FEGD) and FCS for general checkup and was matched for age and sex with the gastric neoplasm group. Advanced colonic neoplasm was defined by any of the following: (1) the presence of three or more polyps; (2) polyp size at least 1.0 cm; (3) high-grade dysplasia or adenocarcinoma confirmed by histopathologic examination. RESULTS: Of the 372 persons, colorectal polyps were detected in 124 (33.3 %), advanced colonic neoplasms in 44 (11.8 %), and adenocarcinomas in 10 (2.7 %). The overall prevalence of adenomatous or cancerous polyps ("all polyps") and the prevalence of advanced colonic neoplasms were significantly higher in the gastric neoplasm group than in the control group (all polyps: 40.9 % in the gastric neoplasm group vs. 25.8 % in the control group, P = 0.002; advanced colonic neoplasms: 15.6 % vs. 8.1 %, P = 0.025). The risk factors for all polyps were age, male sex, diabetes mellitus, and being assigned to the gastric neoplasm group, and those for advanced colonic neoplasms were age and being assigned to the gastric neoplasm group. Confining the analysis to the gastric neoplasm group, the risk factors for all polyps were identical with those for the total group; however, those for advanced colonic neoplasm were different (age vs. diabetes and hypertriglyceridemia). CONCLUSION: Endoscopists should consider performing routine FCS in patients undergoing endoscopic removal of gastric neoplasms.

Gyrokinetic studies on turbulence-driven and neoclassical nondiffusive toroidal-momentum transport and the effect of residual fluctuations in strong E x B shear.

A significant inward flux of toroidal momentum is found in global gyrokinetic simulations of ion temperature gradient turbulence, leading to core plasma rotation spin-up. The underlying mechanism is identified to be the generation of residual stress due to the k parallel symmetry breaking induced by global quasistationary zonal flow shear. Simulations also show a significant off-diagonal element associated with the ion temperature gradient in the neoclassical momentum flux, while the overall neoclassical flux is small. In addition, the residual turbulence found in the presence of strong E x B flow shear may account for neoclassical-level ion heat and anomalous momentum transport widely observed in experiments.

An alternative method for estimating efficacy of the AN1792 vaccine for Alzheimer disease.

BACKGROUND: In a randomized trial of AN1792 vaccine against A beta in Alzheimer disease (AD), only 20% of vaccine recipients had an anti-AN1792 antibody response. The trialists sought to estimate the efficacy of the vaccine among antibody responders by comparing outcomes among antibody responders in the vaccine group with outcomes among all placebo recipients. METHODS: We describe why the method used may be biased. An alternative approach to estimating efficacy is described that compares outcomes between responders in the vaccine group and potential responders in the placebo group. Although potential responders cannot be identified individually, the distribution of outcomes among them can be inferred indirectly, under certain assumptions. Three methods for assessing vaccine effects are compared using data on the ventricular volume boundary shift integral (BSI) from the AN1792 trial and in simulations. RESULTS: Mean (+/- standard error) increase in BSI relative to controls was 0.16 (+/-0.065) by intent-to-treat, 0.61 (+/-0.116) in the published comparison, and 0.81 (+/-0.320) in the proposed approach. Simulations show that the published method can often yield biased estimates, while the proposed method does not. CONCLUSIONS: Published results from the AN1792 trial may have underestimated the effect of vaccine on progression of cerebral atrophy among patients with an antibody response to the vaccine. For this and future similar trials, we suggest that intent-to-treat results always be reported, and that efficacy estimates be based on the proposed potential-outcomes method.

FDG uptake and glucose transporter type 1 expression in lymph nodes of non-small cell lung cancer.

AIMS: FDG uptake in NSCLC is related to glucose transporter type 1 (Glut-1) expression. Here, we investigated the direct causal relationship between FDG uptake and Glut-1 expression to determine the role of Glut-1 in FDG uptake by malignant and benign lymph nodes (LNs). METHODS: Fifty-five curative lung resections in 53 NSCLC patients (male:female=36:17, age=62.0+/-11.8 years) were included. Maximum standardized uptake values (maxSUVs) of LNs in preoperative whole body FDG-PET and Glut-1 immunostaining results were compared. RESULTS: Of 316 pathologically confirmed LNs, 12.3% (39/316) were malignant, and in malignant LNs, FDG positive LNs were no different from FDG negative LNs in terms of size (15.0+/-6.7 mm vs 10.0+/-6.1mm, p>0.05), or in terms of the proportion of LNs occupied by tumor (60.0+/-28.8% vs 39.2+/-38.4%, p>0.05), but had greater percentages of Glut-1 positive cells in tumors (74.1+/-31.8% vs 22.7+/-18.7%, p<0.01), and Glut-1 staining intensities (3.4+/-0.9 vs 1.8+/-1.3, p<0.01). FDG negative malignant LNs featured cytoplasmic Glut-1 expression and adenocarcinoma. Glut-1 staining intensities were found to be significantly correlated with the maxSUVs of malignant LNs (rho=0.516, p<0.05), but the percentages of Glut-1 positive cells in tumors were not (r=0.2072, p>0.05). Analysis of FDG positive benign LNs showed that maxSUV was not correlated with degree of follicular hyperplasia, or Glut-1 expression (p>0.05). CONCLUSIONS: Intense Glut-1 immunoreactivity was found to be proportionally related to the degree of FDG uptake by malignant LNs in NSCLC. However, the finding that Glut-1 expression in lymphoid hyperplasia showed no correlation with FDG uptake in benign LNs requires further investigation.

Validation of the English version of the KINDL generic children's health-related quality of life instrument for an Asian population--results from a pilot test.

OBJECTIVES: To evaluate the psychometric properties of the KINDL questionnaire in an Asian population. METHODS: Consecutive patients with diabetes mellitus (DM) and healthy subjects were recruited to complete the English KINDL questionnaire. The inclusion criteria for patients were age 8-16 years, English-speaking, diagnosed with DM and absence of co-morbid conditions. RESULTS: Thirty children with DM (mean age: 10.7 +/- 1.35 years; 11 M) and 39 healthy subjects (mean age: 10.6 +/- 1.23 years, 17M) completed the child version whereas 31 adolescents with DM (mean age: 14.5 +/- 1.48 years; 15M) and 32 healthy subjects (mean age: 14.3 +/- 0.87 years, 16M) completed the adolescent version. Overall, children with DM reported better HRQoL than healthy children. Although this appeared counter-intuitive, several explanations are possible: (1) the development of resilience to the disease over time, (2) our subjects are well-managed, (3) response shift, (4) the provision of high quality medical care, (5) compared to normal children, diabetic subjects and their family pay greater attention to health issues. The reliability coefficients were (overall, scales): KINDL-Kid DM (0.79, 0.44-0.65), KINDL-Kid Healthy (0.71,0.60-0.80), KINDL-Kiddo DM (0.77, 0.37-0.74) and KINDL-Kiddo Healthy (0.84, 0.21-0.79). CONCLUSIONS: The KINDL questionnaire appeared promising for use in Asian children. However, further validation in a sample more representative of the general population is required.

The Diabcare-Asia 1998 study--outcomes on control and complications in type 1 and type 2 diabetic patients.

UNLABELLED: The aim of this study was to describe the glycaemic and metabolic control and diabetes-related complications in type 1 and type 2 Asian patients. METHODS: Data of diabetes patients from 230 diabetes centres in 12 Asian regions were collected on a retrospective-prospective basis through review of medical records, interview and laboratory assessments. Analysis of glycated haemoglobin (HbA1c) was carried out in central laboratories appointed by Bio-Rad. The data collection case record forms were scanned electronically. RESULTS: 22177 patients with valid data made up the analysis population. Among patents with type 1 and type 2 diabetes, there was a higher proportion of women than men (53% vs. 47% for type 1 patients and 56% vs. 44% for type 2 diabetes). Hypertension (61%) and overweight (40% with BMI > or = 25 kg/m2 were common in type 2 patients. Dyslipidaemia was also present in at least half of both types of patients. Control of glycaemia (mean HbA,1c and fasting blood glucose [FBG]) was poor in type 1 (9.9 +/- 2.5%; 10.2 +/- 5.2 mmol/l) and type 2 patients (8.5 +/- 2.0%; 8.9 +/- 3.4 mmol/l). Glycaemia in the majority of both types of patients fell short of those stipulated by various guidelines. In type 2 patients, glycaemia deteriorated (HbA1c > 7.5%, FBG > or = 7.0 mmol/l) with duration of diabetes > 7 years. Both types of diabetes appear to share a similar high prevalence of complications of cataract, retinopathy and neuropathy, although the prevalence of cataract (27%) and neuropathy (35%) was higher in type 2 diabetes. Screening for microalbuminuria was not common. CONCLUSIONS: The Inadequate metabolic and hypertension control, especially in type 2 patients, needs to be addressed.

Hispanic and non-Hispanic white patient pain management expectations.

This study compares emergency department (ED) pain management expectations in Hispanic versus non-Hispanic white patients with painful conditions. A prospective convenience sample of patients was enrolled at a university ED. Patient expectations of pain relief were recorded on a 100-mm visual analogue scale (VAS). Surveys from 58 Hispanics and 408 non-Hispanic whites were completed and used for data analysis. Sample size was adequate to detect a minimum difference in pain relief of 13 mm. Both groups had similar chief complaints and degree of pain at presentation. Their demographics differed in age and language spoken. Mean expectations for pain relief were not significantly different (76mm [95% confidence interval (CI) 70-82] and 72mm [95% CI 70-74]) between Hispanics and non-Hispanic whites, respectively. Mean expectations of a reasonable time to wait for pain medications were also not significantly different (31 minutes [95% CI 28-33] and 33 minutes [95% CI 26-48]) between Hispanics and non-Hispanic whites, respectively.

Epidemiologic and clinical survey of Behcet's disease in Korea: the first multicenter study.

The prevalence of Behcet's disease is the highest in the East Asian and the Mediterranean countries. Behcet's disease is also distributed in the Asian countries, but the nationwide survey has not been performed in Korea yet. The Korean Study Group for Behcet's Disease, founded in 1999, conducted a multicenter, retrospective survey on epidemiologic and clinical features of the patients with Behcet's disease from 20 hospitals around the nation from 1997 to 1999. Of 3,497 patients, 1,527 were classified into complete or incomplete type of Behcet's disease according to the revised Shimizu's classification. The sex ratio was 1:1.75 with the female predominance. Geographical distribution showed the highest frequency in Seoul (38.5%). Clinically, 98.8% had oral ulcers, 83.2% had genital ulcers, 84.3% had skin lesions and 50.9% had ocular lesions. As for the minor clinical manifestations, articular symptoms were the most frequent. The pathergy test showed positive in 15.4% of patients and revealed a higher positive rate in males (20.2%) than in females (12.7%). In conclusion, we performed the first multicenter study on Behcet's disease in Korea and revealed the female predominance, higher frequency of ocular lesions, and lower positivity of pathergy test in the patients.

Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.

BACKGROUND: Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p. This is the first report on the mutational spectrum of the CYP21 gene in Singapore. METHODS: To catalogue the mutations, ten exons of the CYP21 gene from 28 Singaporean patients were analyzed by PCR amplification and direct sequencing. RESULTS: Common mutations in descending order were the intron 2 splice site mutation (32.7% of the alleles), the I172N mutation (23.1% of the alleles), and the R356W mutation (19.2% of the alleles). Two potentially novel mutations were discovered: (1) duplication of 111 bp from codon 21 to codon 57 (exon 1) and (2) missense mutation (L261P, exon 7). There was generally a good genotype-phenotype correlation, allowing accurate prediction of the disease severity.