2.Review of stentless, tubeless, apposed renal (STAR) transplant wound management programme.
Hui Wen Melissa TAY ; Pei Yi SIM ; Yong Ai TEO ; Lata RAHMAN ; Ho Yee TIONG
Singapore medical journal 2021;62(10):529-534
INTRODUCTION:
We aimed to review the necessity of conventional interventions in renal transplant for preventing complications arising out of the use of wound drains, ureteral stents and stapled skin closures.
METHODS:
We reviewed a series of 33 patients who received stentless, tubeless/drainless and suture-apposed living donor renal transplants (STAR group) and compared the results to a control non-STAR group of 36 patients in whom all three interventions of drains, stents and skin staples were used.
RESULTS:
No significant differences in demographics and clinical characteristics were observed between the two groups. With regard to the overall surgical complications, no significant differences in terms of wound infection, seroma, perinephric collections, urinoma, bacteriuria or vascular complications were observed between the groups. When analysed according to the interventions specific for preventing complications, although slightly more asymptomatic perinephric collections were observed and two lymphoceles required treatment in the STAR group, these differences were not statistically significant. Similarly, no significant differences in ureteric or skin-related complications were observed between the groups. Both groups had comparable good outcomes for renal function, graft survival and patient survival.
CONCLUSION
The routine use of ureteric stents, drains or skin staples may not be necessary for uncomplicated renal transplants. Potential complications associated with the placement of these interventions can be avoided without compromising on the safety of patients and/or the outcome of transplants.
3.A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
Alfand Marl F. Dy CLOSAS ; Katja LOHMANN ; Ai Huey TAN ; Norlinah Mohamed IBRAHIM ; Jia Lun LIM ; Yi Wen TAY ; Kalai Arasu MUTHUSAMY ; Azlina Binti AHMAD-ANNUAR ; Christine KLEIN ; Shen-Yang LIM
Journal of Movement Disorders 2023;16(1):91-94
KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
4.Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
Shen-Yang LIM ; Ai Huey TAN ; Jia Nee FOO ; Yi Jayne TAN ; Elaine GY CHEW ; Azlina Ahmad ANNUAR ; Alfand Marl Dy CLOSAS ; Azalea PAJO ; Jia Lun LIM ; Yi Wen TAY ; Anis NADHIRAH ; Jia Wei HOR ; Tzi Shin TOH ; Lei Cheng LIT ; Jannah ZULKEFLI ; Su Juen NGIM ; Weng Khong LIM ; Huw R. MORRIS ; Eng-King TAN ; Adeline SL NG
Journal of Movement Disorders 2024;17(2):213-217
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.
5.Enterovirus infections in Singaporean children: an assessment of neurological manifestations and clinical outcomes.
Wen Yi THONG ; Audrey HAN ; S J Furene WANG ; Jeremy LIN ; Mas Suhaila ISA ; Evelyn Siew Chuan KOAY ; Stacey Kiat-Hong TAY
Singapore medical journal 2017;58(4):189-195
INTRODUCTIONEnterovirus infections in childhood can be associated with significant neurological morbidity. This study aimed to describe the prevalence and range of neurological manifestations, determine the clinical characteristics and assess differences in clinical outcomes for Singaporean children diagnosed with enterovirus infections.
METHODSIn this single-centre, case-control study, clinical data was collected retrospectively from patients admitted to National University Hospital, Singapore, from August 2007 to October 2011 and diagnosed with enterovirus infection, based on the enterovirus polymerase chain reaction test, or cultures from throat and rectal swabs or cerebrospinal fluid samples. The occurrence of neurological manifestations was reviewed and clinical outcomes were assessed.
RESULTSA total of 48 patients (age range: six days-17.8 years) were included in the study. Neurological manifestations were seen in 75.0% of patients, 63.9% of whom presented with aseptic meningitis. Other neurological manifestations included encephalitis, acute cerebellitis, transverse myelitis and autonomic dysfunction. The incidence of neurological manifestations was significantly higher in patients aged > 1 year as compared to younger patients (p = 0.043). In patients without neurological manifestations, a significantly higher proportion presented with hand, foot and mouth disease and poor feeding. Long-term neurological sequelae were seen in 16.7% of patients with neurological manifestations.
CONCLUSIONA wide spectrum of neurological manifestations resulting in a relatively low incidence of long-term neurological sequelae was observed in our study of Singaporean children with enterovirus infections. As some of these neurological morbidities were severe, careful evaluation of children with neurological involvement is therefore necessary.