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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 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.Item Research tools for basic research(Sri Lanka College of Obstetricians and Gynaecologists, 2008) Fernando, S.Statistics is an integral part of any research project. It is mainly used in sample size calculation in the planning stage and data analysis at the conclusion of the study. Furthermore, the readers of a research article should also have some understanding of the statistical methods used in order to draw appropriate conclusions from the study. Though statistical tools would allow one to derive scientifically sound conclusions from research, it will not be able to compensate for flaws in the study design. Easy accessibility to statistical computer software in modern day has made the statistical calculations much easy fro the investigators. However, a basic knowledge of statistics is required in order to select the most suitable method of analysis. Sample size calculation is a method in which the investigator would be able to know the minimum number of subjects that needs to be included in order to draw definite conclusions. Such a calculation will minimise the possibility that the observed effect is due to chance and spare both the investigator and the subjects of over-recruitment. Different sample size calculation methods are used in population based descriptive studies, two group comparisons of means or rates and in correlation and regression calculations. Data analysis is done mainly at the conclusion of subject recruitment. In order to obtain valid results the data analysis method should be decided as early as the planning stage of the study. The statistical method used would depend on the study design, the type of data and what the clinically useful conclusions that can be derived from the observations. The data would let us draw conclusions from the observations and the statistical methods will describe the validity of those conclusions. In descriptive studies statistical tools are used in data presentation where confidence intervals could be calculated for means, proportions, counts and rates. Hypothesis testing is done commonly in two group comparisons and in certain instances in three or more groups. In such analysis various statistical methods could be employed based on the characteristics of the study design, the variables and the study population. More advanced statistical analysis include regression and correlation which are used too describe the relationship between two or more variables and rnultivariate analysis used in study of multifactorial associations and confounding effects.Item Needle stick and sharp injuries during surgical procedures: an ignored danger?(Sri Lanka College of Obstetricians and Gynaecologists, 2006) Palihawadana, T.S.; Sitbodhini, M.A.; Fernando, S.; Wijesinghe, P.S.Handling of needles and sharp instruments expose the surgeons to sharp injuries, which can transmit blood borne pathogens such as HIV, Hepatitis B and C. Obstetrics and Gynaecology has been shown to carry the highest risk on this regard for medical students during their training. Universal precautions have been described to prevent such disease transmission, but their effectiveness during surgical training has not been evaluated. In this study we assessed the frequency of such injuries among undergraduates, surgical and gynaecology post graduate trainees (PG trainees) and the theatre nursing staff at Teaching Hospital, Ragama. The procedures that exposed them to injury and the measures taken following the injury were also evaluated. Study was carried out from January to March, 2006 and the participants were asked to recall such injuries during their career and in the preceding year. Data were collected using a self administered questionnaire. Eighty medical students, 33 post graduate trainee medical officers, and 29 nursing officers were included in the study. The proportion suffered from such injuries during their carrier among medical students, PG trainees and nurses were 66%, 94%, and 82%. Within the preceding year it was 53%, 82% and 52% respectively. The mean frequency of injuries in the last year among PG trainees was significantly higher than medical students and nurses (3.1 vs. 1.67, 1.64; P<0.001). Assisting at major surgery caused the highest number of injuries to both PG trainees and nurses while repairing of episiotomy was the commonest procedure among medical students. A high proportion of members in all categories had received Hepatitis B vaccination. The actions taken following these injuries were inappropriate in a vast majority of participants. We conclude that needle stick and sharp injuries among surgical trainees is very common. Steps need to be taken to protect the individuals from serious blood borne pathogens.