Sri Lankan Patients Research Articles

TTR associated leptomeningeal amyloidosis in a Sri Lankan patient

ObjectivesThis case report aims to contribute to the expanding genotypic-phenotypic spectrum of TTR associated leptomeningeal amyloidosis. MethodsNeuroimaging and targeted TTR Sanger sequencing were performed on a 52-year-old female presenting with cognitive and motor symptoms. ResultsThe proband, a Sri Lankan woman, presented with a gradually progressive cognitive decline, followed by a rapid deterioration in motor function and level of consciousness. She had a significant family history of an undiagnosed neurological disorder, characterized by cognitive impairment and early death occurring in the fifth decade of life. Analysis of cerebrospinal fluid (CSF) demonstrated elevated protein levels. CT scan of the brain showed extensive leptomeningeal calcifications and hydrocephalus, and gadolinium enhanced magnetic resonance imaging (MRI) demonstrated extensive leptomeningeal enhancement in the brain and spinal cord.Genetic analysis revealed c.113 A > G, p.D38G mutation in TTR, a rare mutation with characteristic clinic-radiological central nervous system features. DiscussionLeptomeningeal amyloidosis represents the least common subtype of familial transthyretin amyloidosis, which is a life-threatening condition. Among the over 150 identified mutations, few are specifically associated with central nervous system disease. The genetic spectrum and clinical phenotypes including neuroimaging findings continue to expand. It is important to maintain a high index of suspicion for leptomeningeal amyloidosis, particularly when the presentation is not acute or when there are relapsing-remitting symptoms. Consideration of family history and early genetic testing are essential to facilitate appropriate treatment and genetic counselling.

Splenic Stiffness Measurement Combined With Liver Stiffness Measurement Compared With Baveno VII Criteria in Predicting the Presence of Oesophageal and Gastric Varices in Patients With Compensated Advanced Liver Cell Disease (cALCD).

Liver stiffness measurement (LSM) using vibration-controlled transient elastography (VCTE) is being increasingly used as a screening tool to predict varices. Our aim was to test the utility of Baveno VII criteria and other combinations of LSM, platelet count (PC), and splenic stiffness measurement (SSM) to predict the presence of varices in a cohort of Sri Lankan patients with compensated advanced liver cell disease (cALCD). Consecutive patients with newly diagnosed Child-Pugh class A cALCD (non-viral, BMI<30) were recruited prospectively. They underwent gastroscopy. LSM and SSM were taken using vibration-controlled transient elastography (VCTE) (Echosens FibroScan 502 Touch; Echosens SA, Paris, France) by a single operator who was unaware of endoscopy findings. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of different Baveno VII criteria to predict the varices and different combinations of LSM, SSM, and PC were also explored. One hundred and seventy-four individuals were recruited. The mean age was 61.4 ((95% CI: 59.7-62.8) years. A total of 110 individuals were males, and 106 had varices. Our results indicated that the three Baveno VII criteria had sensitivities of 61%, 63%, and 42%, and specificities of 79%, 77%, and 87% to predict varices. SSM>30kPa alone and in combination with LSM>15kPa had sensitivities of 81 and 75%, specificities of 72 and 83%, PPVs of 82 and 87%, NPVs of 71% and 67%, and accuracies of 78 and 78%, respectively, to predict varices. Baveno VII criteria had a low sensitivity but high specificity in predicting the presence of varices. However, SSM>30kPa alone or in combination with LSM>15kPa had better sensitivity, specificity, PPV, NPV, and accuracy in predicting varices.

Dilated cardiomyopathy due to hypocalcaemia: a case report.

Hypocalcaemia is a rare, but reversible, cause of dilated cardiomyopathy causing heart failure. Several case reports have been reported on reversible cardiomyopathy secondary to hypocalcaemia. We report a case of 54-year-old female Sri Lankan patient who presented with shortness of breath and was diagnosed with heart failure with reduced ejection fraction due to dilated cardiomyopathy. The etiology for dilated cardiomyopathy was identified as hypocalcemic cardiomyopathy, secondary to primary hypoparathyroidism, which was successfully treated with calcium and vitamin D replacement therapy. This adds to literature of this rare cause of reversible cardiomyopathy secondary to hypocalcemia reported from the South Asian region of the world. This case highlights the impact of proper treatment improving the heart failure in patients with hypocalcemic cardiomyopathy.

Successful Management of Neutropenic Sepsis Is Key to Better Survival of Patients With Blood Cancer in Sri Lanka: Real-World Data From the Resource-Limited Setting.

Sepsis is the main cause of nonrelapse mortality, and there are no published data on applicability of supportive care protocols from high-income countries such as Sri Lanka. The aim of the study was to investigate management and mortality of neutropenic episodes among Hemato-Oncology patients. Retrospective analysis of clinical characteristics, management, morbidity, and mortality of neutropenic Hemato-Oncology patients presented to the Lanka Hospital Blood Cancer Centre from January 1, 2019 to December 31, 2019 was performed. A total of 169 neutropenic episodes were identified; 115 (68%) of such episodes were related to chemotherapy. Acute leukemia, lymphoproliferative disorders, and plasma cell disorders accounted for 23%, 69%, and 8% of patients, respectively. The median age of patients who had sepsis was 56 years, whereas that of those who had no sepsis was 53 years (P = .49). The median time to neutropenia was 9 days for those in the sepsis group compared with 8 days in the group that had no sepsis (0.64). The median neutrophil count in the group that had sepsis was 0.06, whereas it was 0.69 in the group that had no sepsis (P ≤ .05). The median time to commencement of antibiotics was 20 minutes. To our knowledge, this is the only documented study related to outcome and successful applicability of western supportive care protocols to Sri Lankan patients with neutropenia. In this study, we have shown that neutropenic sepsis can be successfully managed in the setting of limited resources with service development, following guidelines and staff training.

Understanding Knowledge, Practices, and Barriers in Metered Dose Inhaler Use Among Sri Lankan Patients with Bronchial Asthma and Chronic Obstructive Pulmonary Disease

Background and Aims: Despite declining mortality rates, asthma and chronic obstructive pulmonary disease (COPD) continue to pose significant public health challenges with persistently high morbidity rates. One prominent con¬tributing factor is the inadequate use of prescription metered dose inhalers (MDIs) by patients, leading to insufficient dosing and suboptimal disease control. Thus, it is crucial to assess patients’ knowledge, practices, and barriers concerning MDI usage. Methods: This descriptive convenience sampling, conducted at Polonnaruwa District General Hospital in Sri Lanka, enrolled 250 participants to investigate MDI-related behaviors. Questionnaire was used as data collection tool and sampling technique is conveniet sampling. Microsoft Excel spreadsheet and SPSS version 20 (IBM Corporation, New York, USA) software were used for statistical analysis. Results: The majority of participants were aged over 40, with a higher proportion of females (59%) than males (39%). Over half of them had been managing bronchial asthma and COPD for more than five years. Notably, all participants were MDI users, but 59% reported disease exacerbations occurring more than four weeks ago, with dust being the primary trigger (45%). Healthcare professionals, especially nurses and doctors, were common sources of MDI education. However, none of the participants demonstrated correct inhalation technique both before and after receiving education, raising significant concerns. Conclusions: This study highlights the inadequacies in MDI utilization among participants, emphasizing the urgent need for improved patient education by healthcare professionals. Addressing these knowledge and skills gaps related to MDI usage is essential for enhancing asthma and COPD management, ultimately leading to improved patient outcomes and a reduced disease burden.

Impulse control disorders and other non-motor symptoms in Sri Lankan patients with Parkinson's disease.

The impact of non-motor symptoms is often overlooked in favour of the motor symptoms when managing Parkinson's disease resulting in suboptimal patient outcomes. This study aimed to characterise the non-motor symptoms of Parkinson's disease in a cohort of Sri Lankan patients with a special focus on the impulsive control disorders and other compulsive behaviours (ICDs-CB) that had not been previously studied in this population. All patients with idiopathic Parkinson's disease followed up at the National Hospital of Colombo, Sri Lanka were included. The presence or absence of non-motor symptoms and their perceived impact was recorded with an interviewer administered questionnaire. Symptoms of anxiety and depression were assessed with Hamilton Anxiety and Depression scales. Presence of ICDs-CB was assessed with the questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease. Of 192 patients 97% (186) reported at least 2 non-motor symptoms. About 83% (160/192) screened positive for anxiety, 40% (76/192) for depression, and 17% (32/192) for an ICDs-CB. A lower Barthel index, history of past psychiatric disorders and family history of alcohol abuse were independent predictors of ICDs-DB. Managing both motor and non-motor symptoms are important to preserve the quality of life of patients with Parkinson's disease. They should be screened for symptoms for anxiety and depression regularly during follow up and educated about the possibility of ICDs-CB soon after diagnosis.

Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.

Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and characteristic facial features. It is caused by a 1.5 - 1.8 Mb heterozygous deletion of chromosome 7q11.23 with loss of around 28 coding genes. The aim of this study was to develop a low-cost, semi-quantitative PCR (sqPCR) method to detect the chromosome 7q11.23 deletion. Twenty-four suspected WBS cases were recruited following ethical clearance and informed consent. Blood was obtained, DNA extracted and spectrophotometrically quantified using standard methods. To detect the deletion by dosage analysis, a target region within a gene located in the WBS commonly deleted region of 7q11.23 was amplified together with a control region in a duplex sqPCR assay. The control region was telomeric to the WBS commonly deleted region and was located in chromosome 7q31.2. The two target regions within the deleted region namely a locus within ELN and a marker in the intergenic region between FZD9 and FKBP6 and designated IFF, were amplified in separate duplex sqPCR assays. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was used as the control for normalization. Included in the assay were a non-deleted and deleted individuals' samples. Nineteen patients were identified to have the deletion while five did not. All 24 patients' results were confirmed by whole exome sequencing and 11 also by fluorescence in-situ hybridization (FISH). The data obtained indicates the sqPCR assay developed in this study to be an accurate and reliable diagnostic test for WBS. Most Sri Lankan patients with WBS are diagnosed clinically, as many parents of affected WBS children are unable to afford currently available molecular diagnostic testing. This low cost sqPCR test is therefore likely to benefit Sri Lankan WBS patients, by enabling genetic testing for confirming or refuting a clinical diagnosis of WBS and may be of use in other low and middle income countries.

Pancreatic adenocarcinoma in a Sri Lankan patient with neurofibromatosis 1

A 27-year-old Sri Lankan man with Neurofibromatosis-1 (NF-1) [MIM:162200] who presented with vague abdominal pain associated with loss of weight and appetite for 1-year duration is described. He had multiple cutaneous neurofibromas, café-au-lait macules and bilateral Lisch nodules. An abdominal contrast-enhanced computed tomography scan showed a mass lesion in the retro pancreatic region with mild enhancement. Diagnostic laparotomy showed multiple liver metastases. Liver biopsy showed an immune morphology which is compatible with deposits of ck17 and ck19 weakly positive adenocarcinoma which led to the probable diagnosis of a pancreatic carcinoma. Genetic testing identified a germline heterozygous pathogenic variant in exon 12 of the NF-1 gene [NM_001042492.3: c.1307C&gt;A]. The substitution creates a nonsense variant at codon position 436, which changes a Serine to a premature stop codon in the NF-1 protein [NP_001035957.1: p.Ser436Ter]. Patients diagnosed with NF-1 may rarely develop malignancies including pancreaticneuroendocrine tumors and pancreatic adenocarcinomas.

Cross-cultural adaptation and psychometric evaluation of a Sinhalese version of the &lt;em&gt;Multidimensional Scale of Perceived Social Support (MSPSS)&lt;/em&gt; in patients with cancer

Introduction: The Multidimensional Scale of Perceived Social Support (MSPSS) is a tool widely used in health surveys to assess social support (SS) perceived by individuals. The lack of an appropriate tool to measure SS perceived by patients with cancer has hindered our understanding of how SS is associated with the management and recovery process of Sri Lankan patients with cancer. The study aimed to examine the reliability and validity of the Sinhalese version of the MSPSS.Methods: Cross-cultural adaptation of the MSPSS was done following the standard guidelines of the process of translation and adaptation set by the World Health Organization. The study sample consisted of 40 patients with cancer at the Teaching Hospital Karapitiya, Galle, Sri Lanka. Data analysis was done using SPSS 25.0. Internal consistency of the overall MSPSS was calculated using Cronbach’s alpha. Test-retest reliability of the tool was also assessed using the intra-class correlation coefficient (ICC). The convergent and divergent validity of the tool was assessed using the Centre for Epidemiological Studies-Depression (CES-D) and the World Health Organization-Quality of Life-Brief Scale (WHOQoL-BREF). Construct validity was assessed using Exploratory Factor Analysis (EFA).Results: The Sinhalese version of MSPSS showed high reliability (Cronbach’s alpha-0.911). The tool showed favourable test-retest reliability (ICC=0.91). The overall MSPSS score was correlated negatively with depressive symptoms (r= -0.459, p&lt;0.001) and positively with dimensions of quality-of-life scores; overall (r=0.674, p&lt;0.001), physical (r=0.426, p&lt;0.001), psychological (r=0.540, p&lt;0.001), social (r=0.674, p&lt;0.001) and environmental quality of life (r=0.767, p&lt;0.001) ensuring strong discriminant/divergent and convergent validity of the Sinhalese version of the MSPSS. Factor analysis extracted three factors (e.g., family, friends, and significant others) explaining 96.65% of the variance.Conclusion: The Sinhalese version of MSPSS is a reliable and valid tool to assess the perceived SS from family, friends, or significant others among patients with cancer.

A study of clinicopathological features and selected laboratory parameters in a cohort of Sri Lankan patients with lupus nephritis

Introduction: Lupus nephritis (LN) is a complication of systemic lupus erythematosus that results in significant morbidity and mortality. Several studies have shown an association between certain pathological lesions and laboratory parameters in LN.Objective: The objectives were to describe the clinicopathological features and laboratory parameters in a cohort of Sri Lankan patients with biopsy-proven LN and determine the associations between the pathological features and laboratory parameters.Method: This was a retrospective, cross-sectional study of all renal biopsies of LN reported at the Department of Pathology, Faculty of Medicine, University of Colombo from January 2017 to December 2021.Results: Eighty cases were identified. The majority were females (95%, 76/80). The mean age at biopsy was 27 ± 10.71 years. Subnephrotic range proteinuria (43.8%, 35/80) was the commonest presentation. The most frequent histological type was class IV (66.3%, 53/80) followed by class II (15%, 12/80) and class III (10%, 8/80). Serum creatinine showed a significant association with both activity and chronicity indices. Glomerulosclerosis showed an association with serum creatinine levels while cellular/fibrocellular crescents were associated with both serum creatinine levels and red cells in urine.Conclusion: In this cohort of Sri Lankan patients with LN, the serum creatinine level showed an association with activity/chronicity indices and the presence of glomerulosclerosis and crescents in the renal biopsy. The presence of red cells in urine showed an association with crescents.

Kounis syndrome in a patient following AstraZeneca coronavirus disease 2019 vaccination: a case report

Introduction and importanceKounis syndrome, also known as allergic angina syndrome, is defined as the occurrence of an acute coronary syndrome concomitantly with a hypersensitivity reaction. It is a very important diagnosis and missing it may be fatal to the patient. This is a medical emergency, and immediate treatment should be initiated. The treatment of Kounis syndrome is challenging because treatment of either acute coronary syndrome and hypersensitivity reaction can lead to the worsening of the other injury. This case is the first reported case of Kounis syndrome following coronavirus disease 2019 vaccination in Sri Lanka according to our knowledge.Case presentationWe discuss a 54-year-old female Sri Lankan patient who developed Kounis syndrome following Oxford AstraZeneca COVID-19 vaccination. The patient initially developed anaphylaxis following the AstraZeneca COVID-19 vaccine and subsequently developed acute coronary syndrome secondary to anaphylaxis. The patient was treated appropriately and eventually recovered from her condition.ConclusionThis syndrome should be suspected when there is a concurrent acute coronary syndrome with allergic reactions. This is an often under- or misdiagnosed condition, and physicians should be educated about it. Caregivers should be aware of its pathophysiology, as treatment of either of the two may worsen the other injury.

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer

BackgroundNext-Generation Sequencing (NGS)-based testing in cancer patients has led to increased detection of variants of uncertain significance (VUS). VUS are genetic variants whose impact on protein function is unknown. VUS pose a challenge to clinicians and patients due to uncertainty regarding their cancer predisposition risk. Paucity of data exists on the pattern of VUS in under-represented populations. This study describes the frequency of germline VUS and clinico-pathological features in Sri Lankan hereditary breast cancer patients.MethodsData of 72 hereditary breast cancer patients who underwent NGS-based testing between January 2015 and December 2021 were maintained prospectively in a database and analyzed retrospectively. Data were subjected to bioinformatics analysis and variants were classified according to international guidelines.ResultsGermline variants were detected in 33/72(45.8%) patients, comprising 16(48.5%) pathogenic/likely pathogenic variants and 17(51.5%) VUS. Distribution of VUS in breast cancer predisposing genes were :APC:1(5.8%), ATM:2(11.7%), BRCA1:1(5.8%), BRCA2:5(29.4%), BRIP1:1(5.8%), CDKN2A:1(5.8%), CHEK2:2(11.7%), FANC1:1(5.8%), MET:1(5.8%), STK11:1(5.8%), NF2:1(5.8%). Mean age at cancer diagnosis in patients with VUS was 51.2 years. Most common tumour histopathology was ductal carcinoma 11(78.6%). 50% of tumours in patients having VUS in BRCA1/2 genes were hormone receptor negative. 73.3% patients had family history of breast cancer.ConclusionsA significant portion of patients had a germline VUS. Highest frequency was in BRCA2 gene. Majority had family history of breast cancer. This highlights the need to undertake functional genomic studies to determine the biological effects of VUS and identify potentially clinically actionable variants that would be useful for decision-making and patient management.

Impact of Pathological Excision Margin Status on Survival of Sri Lankan Patients with Oral Squamous Cell Carcinoma

Introduction: In Sri Lanka, chewing betel quid significantly contributes to the aetiology of oral squamous cell carcinoma (OSCC). Due to quid induced changes in the stroma, the behaviour of OSCC is unique. We analyzed the impact of pathological excision margins (PEM) on survival of these patients.

E059 A retrospective analysis of the effectiveness &amp; safety of platelet rich plasma injections in primary osteoarthritis in knee joint, in patients attending a tertiary care hospital, Sri Lanka; a cohort study

Abstract Background/Aims Osteoarthritis (OA) is a common, challenging condition and is a leading cause of disability and impaired quality of life in Sri Lanka due to its ageing population and obesity pandemic. Conventional therapies for OA such as non-pharmacological measures, analgesics and surgical interventions have their own limitations. Platelet rich plasma (PRP) has been suggested as a second-line treatment by European Alliance of Associations for Rheumatology (EULAR) for early and moderate OA, which needs further evaluation to prove its efficacy and safety. This is a retrospective analysis of the effectiveness and safety of PRP injections, in a cohort of patients, attending the National Hospital of Sri Lanka for primary knee OA. Methods A total of 33 patients who had been treated with PRP injections were examined immediately prior to injection as well as 3 weeks, 3 months and 6 months later. Details of clinical variables, demographic data, and assessment of efficacy and safety were gathered by the pre-treatment form filled at the routine clinics. Pre-treatment form is comprised of inclusion and exclusion criteria, gender, biochemical investigations, radiological evidences in the knee joint, usage of previous pharmacological and non-pharmacological treatment received by the patient, weight, height and body mass index (BMI). Pain at the site of infection, stiffness, bleeding and local infection were examined as measures of safety. Pain score according to visual analogue scale and Western Ontario and McMaster Universities Osteoarthritis index (WOMAC) score were used as measures of effectiveness. Descriptive statistics was used to present demographic and clinical variables. Friedman test with Wilcoxon signed rank test for pairwise comparisons were used in the analysis of related samples of pain scores and WOMAC scores pre and post PRP therapy in order to assess effectiveness. Results Stiffness following PRP injection was experienced by 8 (24.2%) participants but none of the patients developed pain and bleeding. Median of pain score before PRP injection was 7.00 and it was reduced to 3.00 after 6 months of therapy. Median of WOMAC score before PRP injection was 54.00 and it was reduced to 30.00 after 6 months of therapy. Significant reduction of pain score (p = 0.000) as well as WOMAC score (p = 0.000) was observed. A significant gradual reduction of both pain score and WOMAC score was observed at 3 weeks, 3 months and 6 months post PRP injection (p = 0.000). Conclusion PRP injections had a good safety profile in our study. A similar trend of improvement of knee OA was observed in terms of both pain score and WOMAC score which ensures its effectiveness. However, with a guidance of these data in Sri Lankan patients, a randomized double blinded clinical trial is recommended. Disclosure R.M. Wickramarachchi: None. S. Janagan: None. W. Udeshika: None. G. Chandana: None. Y. Udara: None. S. Fernando: None.

Abdominal aortic dimensions in Sri Lankan patients: a computed tomography imaging based preliminary study

The journal is the official publication of the College of Surgeons of Sri Lanka. Its mission is to reach the highest standard of scientific surgical practice by dissemination of high quality scientific information and to foster and promote the growth of scientific surgery in Sri Lanka and in the region. The Sri Lanka Journal of Surgery publishes peer-reviewed leading articles, review articles, scientific articles, perspectives and case reports in the field of surgery and broadly related surgical sciences The journal adheres to the publication ethics as portrayed by the Committee on Publication Ethics (COPE) and is a member of this organisation. It is listed as an ICMJE journal which follow its recommendations (ICMJE recommendations) on Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals.

Human epidermal growth factor receptor-2 gene expression positivity determined by silver in situ hybridization/immunohistochemistry methods and associated factors in a cohort of Sri Lankan patients with gastric adenocarcinoma: a prospective study.

Positive human epidermal growth factor 2 (HER2) expression and its predictive clinicopathological features remain unclear in Sri Lankan gastric cancer (GC) patients. Here, we aimed to determine GC HER2 status predictors by analyzing associations between clinicopathological features and HER2 expression using immunohistochemistry (IHC) and silver in situ hybridization (SISH). During this 4-year prospective study, clinicopathological data were collected from participants in the National Hospital of Sri Lanka. HER2 IHC and SISH were performed using commercial reagents. Using chi-square tests, associations of HER2-IHC/SISH with clinicopathological features were analyzed. Overall, 145 GC patients were included, 69 had gastrectomies and 76 had biopsies. Positive HER2 expression by IHC was associated with age <60 years, high T stage (assessed pathologically in resections and radiologically in biopsies), high nuclear grade, tumor necrosis, mitosis >5/high-power field, with additional perineural invasion and lymphovascular invasion in resections. These features, excluding lymphovascular invasion but including male sex, were associated with HER2 expression by SISH. Age <60 years, high nuclear grade, tumor necrosis, and perineural invasion are associated factors of HER2 status. These could be used to triage GC patients for HER2 status testing in limited resource settings where IHC/SISH analysis is costly.

Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA

Mucopolysaccharidosis type IVA is a rare autosomal recessive lysosomal storage disorder occurring worldwide in all ethnic groups. It is caused by biallelic variants in the GALNS gene (OMIM 612222). We report five cases of mucopolysaccharidosis type IVA with short stature and severe skeletal dysplasia. An optimized diagnostic strategy that combined enzymatic testing and genetic screening was applied. All the tested urine samples showed increased urinary glycosaminoglycan / creatinine ratios. In all five cases, the enzyme activity of galactosamine-6-sulfate sulfatase was pathologically decreased. Gene-targeted sequencing revealed a previously unreported homozygous c.139-12T&gt;C variant of the GALNS gene in one patient and three previously reported missense variants in four patients; c.253T&gt;C (p.Cys85Arg), c.626C&gt;T (p.Ala209Val) and c.878C&gt;T (p.Ser293Leu). Genetic studies not only confirm the diagnosis of mucopolysaccharidosis IVA, but also enable predicting the prognosis and facilitate genetic counseling. Enzyme replacement therapy is not available in Sri Lanka to date. However, the quality of life in these patients can be improved by a multidisciplinary approach.

Early Ultrastructural Changes in Biopsies From Patients With Symptomatic CKD of Uncertain Etiology

Although the investigation of chronic kidney disease of uncertain etiology (CKDu) has identified many possible influencing factors in recent years, the exact pathomechanism of this disease remains unclear. In this study, we collected 13 renal biopsies from patients with symptomatic CKDu (Sym-CKDu) from Sri Lanka with well-documented clinical and socioeconomic factors. We performed light microscopy and electron microscopic evaluation for ultrastructural analysis, which was compared with 100 biopsies from German patients with 20 different kidney diseases. Of the 13 Sri Lankan patients, 12 were men (92.3%), frequently employed in agriculture (50%), and experienced symptoms such as feeling feverish (83.3%), dysuria (83.3%), and arthralgia (66.6%). Light microscopic evaluation using activity and chronicity score revealed that cases represented early stages of CKDu except for 2 biopsies, which showed additional signs of diabetes. Most glomeruli showed only mild changes, such as podocyte foot process effacement on electron microscopy. We found a spectrum of early tubulointerstitial changes including partial loss of brush border in proximal tubules, detachment of tubular cells, enlarged vacuoles, and mitochondrial swelling associated with loss of cristae and dysmorphic lysosomes with electron-dense aggregates. None of these changes occurred exclusively in Sym-CKDu; however, they were significantly more frequent in these cases than in the control cohort. In conclusion, our findings confirm the predominant and early alterations of tubular structure in CKDu that can occur without significant glomerular changes. The ultrastructural changes do not provide concrete evidence of the cause of CKDu but were significantly more frequent in Sym-CKDu than in the controls.

Demographics, pathological characteristics and survival in urothelial bladder cancer in a cohort of Sri Lankan patients.

Bladder cancer has the 9th highest incidence among Sri Lankan males. This study describes the demographic profiles and survival in bladder cancer patients at two tertiary care centres in Sri Lanka. A group of patients with urothelial bladder cancer, presenting for the first time for definitive treatment, were prospectively enrolled from 2013 to 2017. There were sixty-six patients, with median age of 65 years and male to female ratio of 7:1. Histopathologically pTa 24%, pT1 47% and pT2 29%. Of the pT1 tumours 61% were low grade (LG). The majority (71%) of non-muscle invasive bladder cancer (NMIBC) patients underwent transurethral resection of bladder tumour only. For the entire cohort the 5-year overall survival was 59% and cancer specific survival (CSS) was 65%. CSS in NMIBC was 75% and 30% in muscle invasive bladder cancer (MIBC). The 5-year female CSS (22%) was significantly lower than in males (71%). Our cohort has a high male to female ratio. The percentage of MIBC was lower than reported in previous Sri Lankan studies. Of the pT1 tumours there is a higher percentage of pT1 LG patients in comparison to Western reports. There is low utilisation of intravesical mitomycin / bacillus Calmette-Guérin (BCG) in the treatment of NMIBC. The 5-year CSS in the Sri Lankan (lower middle-income economy) cohort lies between the values of high-income economies and upper middle-income economies in Asia. The reasons for poor CSS among Sri Lankan women with bladder cancer needs to be further investigated.

Chronic musculoskeletal symptoms following COVID-19 in a cohort of Sri Lankan patients

The Journal of the Ceylon College of Physicians (JCCP) is a peer-reviewed, open access journal published bi-annually by the Ceylon College of Physicians (CCP) in the last week of June and December.The objective of the Journal is to promote good clinical practice and influence policy making across the medical world through publication of original research and peer reviewed articles on current issues and to foster responsible and balanced debate on issues that affect medicine and health care in Sri Lanka. Contributions to the JCCP reflect its national and multidisciplinary readership and include current thinking across a range of medical specialties.