Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: A case report(BioMed Central, 2024) Bandara, P.; Wijenayake, W.; Fernando, S.; Padeniya, P.; Mettananda, S.BACKGROUND Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is very rare. Here, we report an infant with vitamin B12-responsive developmental and epileptic encephalopathy due to a novel mutation in the fucosyltransferase 2 (FUT2) gene responsible for vitamin B12 absorption.CASE PRESENTATION An 11-month-old girl of non-consanguineous parents presented with recurrent episodes of seizures since four months. Her seizures started as flexor epileptic spasms occurring in clusters resembling infantile epileptic spasms syndrome with hypsarrhythmia in the electroencephalogram. She was treated with multiple drugs, including high-dose prednisolone, vigabatrin, sodium valproate, levetiracetam and clobazam, without any response, and she continued to have seizures at 11 months. She had an early developmental delay with maximally achieving partial head control and responsive smile at four months. Her development regressed with the onset of seizure; at 11 months, her developmental age was below six weeks. On examination, she was pale and had generalised hypotonia with normal muscle power and reflexes. Her full blood count and blood picture revealed macrocytic anaemia with oval and round macrocytes. Bone marrow aspiration showed hypercellular marrow erythropoiesis with normoblastic and megaloblastic maturation. Due to the unusual association of refractory epilepsy and megaloblastic anaemia, a rare genetic disease of the vitamin B12 or folate pathways was suspected. The whole exome sequencing revealed a homozygous missense variant in exon 2 of the FUT2 gene associated with reduced vitamin B12 absorption and low plasma vitamin B12 levels, confirming the diagnosis of vitamin B12 deficiency related developmental and epileptic encephalopathy. She was started on intramuscular hydroxocobalamin, for which she showed a marked response with reduced seizure frequency.CONCLUSION We report a novel variant in the FUT2 gene associated with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anaemia. This case report highlights the importance of timely genetic testing in children with refractory developmental and epileptic encephalopathy to identify treatable causes.Item Methotrexate-induced leukoencephalopathy presenting as acute-onset limb weakness in a child: A case report(BioMed Central, 2024) Pathiraja, H.; Abrew, G.D.; De Silva, L.; Fernando, S.; Randeny, S.; Mettananda, S.BACKGROUND Methotrexate is an essential medicine used to treat childhood malignancies including acute lymphoblastic leukemia. Neurotoxicity manifesting as leukoencephalopathy is an important adverse effect of methotrexate. Methotrexate-induced leukoencephalopathy classically demonstrates sub-acute-onset neurological manifestations that include learning disability, progressive dementia, drowsiness, seizures, ataxia, and hemiparesis. These are rare in children and are generally reported following intrathecal or intravenous use of methotrexate. In contrast, acute onset neurotoxicity with oral use of methotrexate is very rare. We report a 10-year-old boy presenting with acute onset limb weakness and neurological signs due to methotrexate-induced leukoencephalopathy following oral methotrexate.CASE PRESENTATION A 10-year-old Sri Lankan boy presented with fever and headache for 5 days and difficulty in walking for 2 days. He was unable to stand unaided on admission, and his parents complained of repetitive, involuntary extension movements involving the right upper limb. He is a child diagnosed with acute lymphoblastic leukemia who was on treatment for a relapse with daily oral dexamethasone and mercaptopurine, weekly oral methotrexate and folinic acid, and once every two weeks intrathecal vincristine. On examination, he had dystonic movements of the right upper limb and hypotonia and reduced muscle power (grade 3/5) of the left upper and lower limbs proximally and distally. The muscle power of the right side was grade 4 (out of 5). Tendon reflexes were diminished in all four limbs, and the plantar response was flexor bilaterally. The child had dysmetria and intension tremors on both sides. T2-weighted magnetic resonance imaging of the brain revealed symmetrical high signal intensities with diffusion restriction involving bilateral putamen, subcortical areas, and deep white matter, suggesting treatment-related neurotoxicity due to methotrexate-induced leukoencephalopathy. Oral methotrexate was discontinued. He showed gradual improvement in limb weakness and other neurological signs following treatment with intravenous folinic acid, aminophylline, dexamethasone, and oral dextromethorphan.CONCLUSION This case report describes a patient with rapidly progressing methotrexate-induced leukoencephalopathy following oral methotrexate. It highlights that the risk of neurotoxicity persists even with the oral use of methotrexate; therefore, the prescribers should be vigilant of this uncommon side effect.Item A case of multiple sulfatase deficiency(Sri Lanka College of Paediatricians, 2022) Razeen, Z.; Suriapperuma, T.; Fernando, S.; Munasinghe, R.; Jasinge, E.; Panapitiya, M.No abstract availableItem Autoimmune thyroiditis presenting as acute onset pure chorea without encephalopathy(Sri Lanka College of Paediatricians, 2022) Munasinghe, R.; Razeen, Z.; Suriapperuma, T.; Fernando, S.; Panapitiya, M.No abstract availableItem Focal seizures as first presentation of Pepper syndrome in a six-week-old girl(Sri Lanka College of Paediatricians, 2022) Sandakelum, U.; Balasubramaniam, R.; Fernando, M.; Gunasekera, S.; Ganewatte, E.; Fernando, S.; Dissanayake, D.No abstract availableItem Heart rate variability among gas station attendants exposed to benzene, toluene, and xylenes (BTX) in Sri Lanka(Springer Nature., 2021) Warnakulasuriya, T.; Medagoda, K.; Kottahachchi, D.; Luke, D.; Wadasinghe, D.; de Silva, D.; Ariyawansha, J.; Rathnayaka, P.; Dissanayaka, T.; Fernando, S.; Devanarayana, N.M.; Scheepers, P.T.J.Introduction: Benzene, toluene, and xylenes (BTX) exposure among gas station attendants in Sri Lanka is high. Cardiovascular morbidity and mortality are reported to be higher among those exposed to BTX. A hypothesis is based on alterations in the autonomic nervous system, especially disruption of autonomic regulation of the heart. Autonomic regulation of cardiac functions can be assessed by short-term heart rate variability (HRV), which measures the fluctuations in the interval between sequential sinus heartbeats. Objective: To determine whether BTX exposure affects the heart rate variability (HRV) among gas station attendants. Methods: Forty-nine gas station attendants from the Gampaha district of Sri Lanka, aged between 19 and 65 years, were recruited for the study. Age and gender-matched controls (n = 46) without occupational exposure to fuel were used as controls. Ethical approval for the study was granted by the Ethics Review Committee of the Faculty of Medicine, University of Kelaniya, Sri Lanka. Informed written consent was obtained from each participant. Demographic data were collected, and a physical examination was performed before the HRV assessment. We measured SDNN, RMSSD, pNN50, HF, LF, and LF: HF ratio as HRV indices. Pre- and post-shift samples of end-exhaled air were collected and analyzed for BTX using a thermal desorption gas chromatography–mass spectrometry system (TD-GC-MS) among 24 gas station attendants and 14 controls. As a proxy of shift exposure, we calculated the increase from pre-shift (as a baseline) to postshift and reported this as ‘delta’. Results and discussion: For gas station attendants (n = 24) median pre-/post-shift exhaled air concentrations (ng/L) were: benzene 10.47/ 19.00; toluene 10.41/21.86; m/p-xylene 1.63/2.14; o-xylene 0.93/1.42. For controls (n = 14) these values were 9.40/11.05, 3.19/3.91, 1.23/ 1.43 and 0.47/0.47. The heart rate variability (HRV) analysis showed significantly higher SDNN and SD2 among the gas station attendants (n = 49) than controls (n = 46) (Mann Whitney U = 842.00, p = 0.034 and Mann Whitney U = 843.50, p = 0.035, respectively). RMSSD, pNN50, Total power, HF, and SD1 among gas station attendants negatively correlated at a significant level with the mean increment in exposure to BTX (p\0.05).Conclusions: Exposure to BTX alters the HRV indices, indicating an effect on autonomic cardiac regulation. Funding: University of Kelaniya research grant: RP/03/04/03/01/ 2017, Foreign Award 2017 of the Dutch Occupational Hygiene Society (NVvA).Item Cardiovascular autonomic functions of gas station attendants in Sri Lanka(Springer Nature., 2021) Warnakulasuriya, T.; Medagoda, K.; Kottahachchi, D.; Luke, D.; Wadasinghe, D.; de Silva, D.; Ariyawansha, J.; Rathnayaka, P.; Dissanayaka, T.; Fernando, S.; Devanarayana, N.M.Introduction: Sri Lanka, a middle-income country in South Asia, has seen a rapid expansion in motor vehicles and, associated with this, an increase in demand for fuel. The dispensing of fuel at fuel stations is performed manually by male fuel handlers, who have long working hours. Such workers are exposed to hydrocarbon fuels which are associated with multiple health effects. This study was performed to determine cardiovascular autonomic functions among fuel handlers in a densely populated district of Sri Lanka. Methods: Fuel handlers (n = 50) from the Gampaha district of Sri Lanka, aged between 19 and 65 years, were identified for the study from seven selected fuel stations. Age and gender-matched controls (n = 46) without occupational exposure to fuel were used as controls. All participants were male (females were not employed as fuel handlers). After obtaining written informed consent, demographic data were collected, and general physical examination performed before autonomic function assessment. Non-parametric methods were used for data analysis. Ethical approval was granted by the ethics review committee of the Faculty of Medicine, University of Kelaniya, Sri Lanka. Results: There were no significant differences in weight, height or BMI among the study and the control populations (p[0.05). Both the systolic (SBP) and diastolic (DBP) blood pressures were significantly higher among the fuel handlers compared to controls (SBP, Mann Whitney U = 743.5, p = 0.003) and (DBP, Mann Whitney U = 686.5, p = 0.001). Valsalva ratio was significantly higher among the fuel handlers (Mann Whitney U—874.00, p = 0.043). The rise in DBP during sustained handgrip, a sympathetic parameter, was significantly higher among the controls (Mann Whitney U = 863.00, p = 0.049). Conclusions: Altered sympathetic:parasympathetic balance was observed among the fuel handlers. Monitoring of the health, using personal protective equipment, and curtailing hours of employment per week is recommended for those employed at fuel stations.Item Possible progression of an atypical leiomyoma to a leiomyosarcoma: a case report(Menopause Society of Sri Lanka, 2021) Ekanayake, C.D.; Herath, R.; Fernando, S.; Mahendra, G.; Balawardene, J.; de Silva, A.The spectrum of uterine smooth muscle cell tumours (SMT) ranges from leiomyomas to leiomyosarcomas (LMS). Atypical leiomyomas (AL) are a uterine SMT of a contentious nature due to its indeterminate malignant potential. Although the risk of recurrence is low there is limited experience on management. On the other hand, it is generally believed that the uterine LMS arises de novo, rather than from a precursor lesion.Item Factors associated with urinary tract infections caused by extended spectrum beta-lactamase (ESBL) producing organisms in Sri Lanka(Elsevier, 2016) Fernando, S.; Luke, N.; Wickramasinghe, S.; Sebastiampillai, B.; Gunathilake, M.; Miththinda, N.; Silva, S.; Premaratna, R.BACKGROUND: Urinary tract infections (UTI) caused by extendedspectrum beta-lactamase (ESBL)-producing organisms are a major burden in clinical practice. Hospitalization in the past 3 months, antibiotic treatment in the past 3 months, age over 60 years, diabetes mellitus, Klebsiella pneumoniae infection, previous use of second or third-generation cephalosporins, quinolones or penicillins are known associations and risk factors for ESBL-UTI. METHODS & MATERIALS: A descriptive study was conducted over a period of 6 months from January - July 2015 recruiting patients with UTI caused by ESBL producing organisms, who were admitted to the Professorial Medical unit, Colombo North Teaching Hospital, Ragama Sri Lanka in order to identify risk factors and associations. Data were obtained using a pre-tested interviewer administered questionnaire and from relevant medical records after obtaining informed written consent. RESULTS: 52 patients were recruited; males 30 (57.7%), mean (SD) age 64.1(.12.6)years. Of them, 46 (88.5%) had diabetes mellitus, 32 (61.5%) had hypertension and 10 (19.2%) had chronic liver disease as comorbidities.20 (38.5%) had ultrasonographic evidence of acute pyelonephritis. At presentation16 (30.8%)had biochemical and/or ultrasonographic evidence of chronic or acute on chronic kidney disease. History of constipation was observed in 18 (34.6%), hospitalization during the past 3 months was seen in 24(46.2%)and history of urinary catheterization in 16(30.8%). Features of obstructive uropathy such as hydronephrosis, hydroureter and prostatomegaly were seen in 4 (7.7%) patients each. Antibiotic treatment within the past 3 months was observed in 32(61.5%);penicillins in 18(34.6%), 3rd generation cephalosporins in 16(30.8%),quinolones in 14(26.9%) and 2nd generation cehalosporins in 12 (23.1%). 18 (34.6%) had received more than one antibiotic within the past 3 months. 8(15.4%)patients studied were on prophylactic antibiotics for recurrant UTIs. None of them had recent Klebsiella pneumonia. CONCLUSION: Similar to other studies,diabetes mellitus, recent antibiotic treatment, hospitalization and catheterization were observed in our patients with ESBL-UTI. The fact that only 53.8% patients had received antibiotics at community level and 38.5% patients had never received antibiotics prior to developing ESBLUTI suggest high prevalence of ESBL producing organisms at community level.Item Antibiotic sensitivity patterns among ESBL UTIs in Sri Lanka(Elsevier, 2016) Luke, N.; Wickramasinghe, B.; Sebastiampillai, M.; Miththinda, N.; Fernando, S.; Silva, S.; Premaratna, R.BACKGROUND: Extended-spectrum β-lactamase (ESBL) producing organisms causing urinary tract infections (UTI) are increasing in incidence and poses a major burden to health care requiring treatment with expensive antimicrobials and prolonged hospital stay. The prevalence of ESBL producing organisms particularly in the Asian region remains unknown. In a study carried out in a tertiary care center in India,70/218(32.1%) clinical isolates of Enterobacteriaceae were confirmed as ESBL. Of them K. pneumonia were the most common ESBL producers(46.4%), followed by E coli (31.7%). Previous studies to evaluate antibiotic susceptibility shows high sensitivity to meropenem (95-100%) with aminoglycoside susceptibility ranging from 45-60%. Objective of this study was to evaluate the antibiotic sensitivity patterns of ESBL UTIs in Sri Lanka. METHODS & MATERIALS: Patients with ESBL-UTI admitted to Professorial Medical Unit, Colombo North Teaching Hospital, Ragama over a period of 6 months from January-July 2015 were recruited to the study. Their Urine culture and ABST reports were analysed after obtaining informed written consent. RESULTS: There were 52 patientswho consented for the study;males30 (57.7%),mean (SD) age 64.11 (12.59)years. The most common organisms causing the ESBL-UTI were E. coli in 44(84.6%),followed by Klebsiella in 8 (15.4%) . The ESBL organisms were mostly sensitive to carbapenems;Meropenem 50 (96.2%) and Imipenem in 38(73.1%). The other sensitivity patterns were Amikacin in 30 (57.7%), Nitrofurantoin in 24 (46.2%) andCeftriaxone in 2 (3.8%). None were sensitive to Ceftazidime. Meropenem resistance was found in 2 (3.8%) and wereE.coli. These two patients had received multiple antibiotics including meropenem in the recent past for recurrant UTI.CONCLUSION: It is evident from the above data that Carbapenems remain as the first line therapy for the majority of UTIs caused by ESBL producing organisms in the local setting. However 3.8% prevalence of meropenem resistance among the study population should draw attention of clinicians and needs implementation of measures to prevent emergence and spread of carbapenum resistant ESBL organisms.