Singapore medical journal最新文献

Abstract: Since the advent of combination antiretroviral therapy (ART), the mortality attributable to human immunodeficiency virus (HIV) infection has decreased by 80%. Newer antiretroviral agents are highly efficacious, have minimal side effects as compared to older drugs, and can be formulated as combination tablets to reduce patients' pill burden. Despite these advances, 680,000 people worldwide died of acquired immunodeficiency syndrome-related illnesses in 2020. The National ART and Monitoring Recommendations by the National HIV Programme have been created to guide physicians on the prescribing of ART based on the patients' needs. These recommendations are based on international guidelines and tailored to the local context and unique domestic considerations. We hoped that with the publication of these recommendations, the care of people living with HIV can be enhanced, bringing us closer to ending HIV in our lifetime.

Introduction: The aim of this study was to determine whether any change in degree of medial tibia plateau depression after extra-articular mechanical realignment surgery was observed in children with Blount's disease who presented late for treatment in their adolescence and young adulthood.

Methods: We retrospectively reviewed the radiographic parameters of 22 patients (32 lower limbs) with Blount's disease who underwent gradual correction of deformity using a ring external fixator without surgical elevation of the depressed medial tibial plateau at a mean age of 15 (range 10-37) years. Preoperative and postoperative angles of depressed medial tibia plateau (ADMTPs) of the same patient were compared for any significant change. Normally distributed data were analysed using Student's t -test when comparing two groups or one-way analysis of variance when comparing more than two groups. Skewed data were analysed using Mann-Whitney test.

Results: After extra-articular mechanical alignment surgery, statistically significant improvements in medial tibial plateau depression were seen in the infantile ( P = 0.03) and juvenile ( P = 0.04) Blount's subgroups. Change in ADMTP was greater in patients who were operated on at age <17 years, before skeletal maturity ( P = 0.001). The improvement was likely due to ossification of unossified cartilage at the posteromedial proximal tibia and the remodelling potential of proximal tibia physis after mechanical realignment.

Conclusion: Improvement of medial tibia plateau depression is possible after mechanical realignment without surgical hemiplateau elevation in cases of infantile and juvenile Blount's disease that present late for treatment, especially when the operation is performed before 17 years of age.

Introduction: We examined the association between admission body mass index (BMI) and discharge rehabilitation functional outcome using the functional independence measure (FIM) in a Southeast Asian cohort of stroke patients during inpatient rehabilitation.

Methods: A prospective, observational cohort study of stroke patients admitted to a single inpatient rehabilitation unit was conducted. Using the World Health Organization Asian standards, BMI was classified as underweight (<18.5 kg/m 2 ), normal (18.5-22.9 kg/m 2 ) and overweight (≥23 kg/m 2 ). The primary outcome measure was discharge FIM, and secondary outcomes included FIM gain, FIM efficiency and FIM effectiveness.

Results: Two hundred and forty-seven stroke subjects were enrolled. The mean age of the cohort was 59.48 (standard deviation [SD] 12.35) years; 64.4% ( n = 159) were male and 52.6% ( n = 130) had ischaemic stroke. The distributions of underweight, normal and overweight based on BMI on admission were 10.9% ( n = 27), 33.2% ( n = 82) and 55.9% ( n = 138), respectively, and the distributions upon discharge were 11.7% ( n = 29), 38.1% ( n = 94) and 50.2% (n = 124), respectively. Significant small decreases in BMI from admission to discharge were found (median [interquartile range] 23.58 [23.40-24.70] vs. 23.12 [22.99-24.21]; P < 0.001). Similarly, clinically significant FIM gains (mean ΔFIM 26.71; 95% confidence interval 24.73, 28.69, P < 0.001) were noted after a median length of stay of 36 days. No significant relationships were found between BMI and discharge FIM ( P = 0.600), FIM gain ( P = 0.254), FIM efficiency ( P = 0.412) or FIM effectiveness ( P = 0.796).

Conclusion: Findings from this study unequivocally support the benefits of acute inpatient stroke rehabilitation. Patients in the obese BMI range tended to normalise during rehabilitation. Body mass index, whether underweight, normal or overweight, did not correlate with discharge FIM.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2 , identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively.

Methods: In this study, the mutation analysis of polycystic kidney disease (PKD) genes was performed in a Chinese family with suspected ADPKD using targeted clinical exome sequencing (CES). The candidate pathogenic variants were further tested by using Sanger sequencing and validated for co-segregation. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to test for abnormal splicing and assess its potential pathogenicity.

Results: A novel atypical splicing mutation that belongs to unclassified variants (UCVs), IVS6+5G>C, was identified in three family members by CES and was shown to co-segregate only with the affected individuals. The RT-PCR revealed the abnormal splicing of exon 6, which thus caused truncating mutation. These findings suggested that the atypical splice site alteration, IVS6+5G>C, in the PKD2 gene was the potential pathogenic mutation leading to ADPKD in this Chinese family.

Conclusion: The data available in this study provided strong evidence that IVS6+5G>C is the potential pathogenic mutation for ADPKD. In addition, our findings emphasised the significance of functional analysis of UCVs and genotype-phenotype correlation in ADPKD.

Introduction: Dengue is a mosquito-borne viral infection endemic in Singapore. Its impact on renal transplantation is limited to small case series. We aimed to characterise the clinical presentation and outcomes of dengue infection among renal transplant recipients in Singapore.

Methods: We conducted a 15-year retrospective review of dengue in renal transplant patients treated at Singapore General Hospital between January 2005 and October 2019. The diagnosis of dengue was made if there were a compatible clinical syndrome and a positive dengue diagnostic assay (dengue non-structural 1 antigen, immunoglobulin M or reverse transcriptase-polymerase chain reaction).

Results: Of the 31 patients diagnosed with dengue, 18 (58.1%) were deceased donor recipients. The median age was 52 (interquartile range [IQR] 40-61) years; 16 (51.6%) were females. The median time to diagnosis was 99 (IQR 18-169) months from transplant. The most common clinical symptoms were fever (87.1%), myalgia (41.9%), gastrointestinal symptoms (38.7%) and headache (25.8%). Nineteen (61.3%) patients had dengue without warning signs, nine (29.0%) had dengue with warning signs, three (9.7%) had severe dengue and 30 (96.8%) were hospitalised. Seventeen (54.8%) patients had graft dysfunction, 16 (94.1%) of whom had recovery of graft function. One (3.2%) patient required dialysis and subsequently died. There were two cases of donor-derived infections (DDIs) with favourable outcomes.

Conclusion: Our experience with dengue in renal transplant recipients is concordant with published data. Although graft dysfunction is common, it is often transient with favourable outcomes. Outpatient management may be considered for mild infections. Although dengue DDIs are uncommon, more stringent donor screening may be considered in endemic regions.