Browsing by Author "Wijenayake, W."

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Hepatic and renal status of paediatric patients with thalassaemia
(Sri Lanka Medical Association, 2023) Wijenayake, W.; Pathiraja, H.; Thennakoon, R.; Fernando, M.; Bandara, D.; Mettananda, S.
INTRODUCTION: Thalassaemia is a chronic disorder affecting many organ systems. Although cirrhosis is a well-recognised complication, sub-clinical hepatic and renal dysfunction in thalassaemia are poorly studied. OBJECTIVES: We aimed to describe the hepatic and renal status and dysfunction of paediatric patients with thalassaemia. METHODS: A cross-sectional descriptive study was conducted at Kurunegala and Ragama Thalassaemia Centres during February and March 2023. All patients aged less than 16 years attending the thalassaemia centres were recruited. Data were collected using a data collection form by interviewing parents and perusal of clinical records and analysed using SPSS 27.0. Ethical approval was obtained from the Sri Lanka College of Paediatricians. RESULTS: Sixty-five patients (mean age-7.7; males-46%) were recruited. Of them 48(73%) had homozygous beta-thalassaemia and 17(26%) had HbE thalassaemia; 52(80%) were transfusion-dependent and 13(20%) were non-transfusion-dependent. Hepatomegaly and splenomegaly were found in 45(69%) and 30(46%), respectively. Regarding hepatic status, 34(52%) had high (>40IU/L) alanine transaminases, of which 8(12%) had >3-fold elevation of alanine transaminases. A higher proportion of children with HbE thalassaemia (71%) had elevated alanine transaminases compared to homozygous beta-thalassaemia (46%, χ2=3.0, p=0.07). Also, a higher proportion of children on deferasirox (57%) had elevated alanine transaminases compared to those who were not on the drug (27%, χ2=3.3, p=0.06). Four (5%) had <2+ proteinuria in urinalysis however, the urine protein: creatine ratio was normal in all. CONCLUSION: High alanine transaminases were noted in over 50% of paediatric patients with thalassaemia. HbE thalassaemia type and use of deferasirox were associated with high alanine transaminase levels.
Hypopharyngeal foreign body impaction presenting late as acute onset torticollis due to retropharyngeal abscess formation in a child
(Sri Lanka College of Paediatricians, 2023) Sooreakumar, A.; Dissanayake, D.M.D.T.; Wijenayake, W.; Bandara, P.K.B.U.C.; Dayasiri, K.; Mettananda, S.
No abstract available
Proximal and distal rectal cancers differ in curative resectability and local recurrence
(Baishideng Publishing Group, 2011) Wijenayake, W.; Perera, M.; Balawardena, J.; Deen, R.; Wijesuriya, S.R.; Kumarage, S.K.; Deen, K.I.
AIM: To evaluate patients with proximal rectal cancer (PRC) (> 6 cm up to 12 cm) and distal rectal cancer (DRC) (0 to 6 cm from the anal verge). METHODS: Two hundred and eighteen patients (120 male, 98 female, median age 58 years, range 19- 88 years) comprised 100 with PRC and 118 with DRC. The proportion of T1, T2 vs T3, T4 stage cancers was similar in both groups (PRC: T1+T2 = 29%; T3+T4 = 71% and DRC: T1+T2 = -31%; T3+T4 = 69%). All patients had cancer confined to the rectum - those with synchronous distant metastasis were excluded. Surgical resection was with curative intent with or without preoperative chemoradiation (c-RT). Follow-up was for a median of 35 mo (range: 12 to 126 mo). End points were: 30 d mortality, complications of operation, microscopic tumour- free margins, resection with a tumourfree circumferential margin (CRM) of 1 to 2 mm and > 2 mm, local recurrence, survival and the permanent stoma rate. RESULTS: Overall 30-d mortality was 6% (12): PRC 7 % and DRC 4%. Postoperative complications occurred in 14% with PRC compared with 21.5% with DRC, urinary retention was the complication most frequently reported (PRC 2% vs DRC 9%, P = 0.04). Twelve percent with PRC compared with 37% with DRC were subjected to preoperative c-RT (P = 0.03). A tumour-free CRM of 1 to 2 mm and > 2 mm was reported in 93% and 82% with PRC and 88% and 75% with DRC respectively (PRC vs DRC, P > 0.05). However, local recurrence was 5% for PRC vs 11% for DRC (P < 0.001). Three and five years survival was 65.6% and 60.2% for PRC vs 67% and 64.3% for DRC respectively. No patient with PRC and 23 (20%) with DRC received an abdomino-perineal resection. CONCLUSION: PRC and DRC differ in the rate of abdomino-perineal resection, post-operative urinary retention and local recurrence. Survival in both groups was similar.
Use of a rectus abdominis muscle cube to seal presacral venous haemorrhage
(College of Surgeons of Sri Lanka, 2014) Tillakaratne, M.S.B.; Ekanayake, C.S.; Wijenayake, W.; Deen, K.I.
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.