Review on Master Patient Index

In today's health care establishments there is a great diversity of information systems. Each with different specificities and capacities, proprietary communication methods, and hardly allow scalability. This set of characteristics hinders the interoperability of all these systems, in the search for the good of the patient. It is vulgar that, when we look at all the databases of each of these information systems, we come across different registers that refer to the same person; records with insufficient data; records with erroneous data due to errors or misunderstandings when inserting patient data; and records with outdated data. These problems cause duplicity, incoherence, discontinuation and dispersion in patient data. With the intention of minimizing these problems that the concept of a Master Patient Index is necessary. A Master Patient Index proposes a centralized repository, which indexes all patient records of a given set of information systems. Which is composed of a set of demographic data sufficient to unambiguously identify a person and a list of identifiers that identify the various records that the patient has in the repositories of each information system. This solution allows for synchronization between all the actors, minimizing incoherence, out datedness, lack of data, and a decrease in duplicate registrations. The Master Patient Index is an asset to patients, the medical staff and health care providers

Association of HLA class I and II genes with cutaneous leishmaniasis: a case control study from Sri Lanka and a systematic review

Three dimensional model of HLA-B protein based on PDB entry 1HSA (DOI: 10.2210/pdb1hsa/pdb ). Amino acids at positions 55 and 57 in the alpha1 and alpha2 domains of the molecule which constitute the antigen recognition region are highlighted. (TIF 376 kb

Author Correction:A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment

Correction to: Scientific Reports https://doi.org/10.1038/s41598-023-28552-w, published online 24 January 202

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22 → pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22 → pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome

Leading Article Cytogenetic testing in paediatrics: Some aspects of the Sri Lankan scenario

Cytogenetic testing or chromosome culture and karyotyping was introduced to Sri Lanka in October 1983 with the establishment of the Human Genetics Unit of the Faculty of Medicine, University of Colombo. In 2006 a private sector laboratory too, entered the field. There has been an upward trend in the number of cytogenetic tests performed in Sri Lanka since 1983 (Figure 1). At the same time an unknown number of samples are sent abroad for testing. Figure 2 Karyogram of the baby at 450 band banding level showing an unbalanced translocation between chromosome no.14 and chromosome no.21. The karyotype is 46, XY, t (14; 21)

Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917

Abstract Objective The data presented herein represents the preliminary results of the functional assays of a recently conducted larger study in which two single nucleotide polymorphisms (SNPs) [XRCC2:rs3218550 and PHB:rs6917] were significantly associated with risk of breast cancer among Sri Lankan postmenopausal women. The rs3218550 T allele and rs6917 A allele were found to increase breast cancer risk by 1.5-fold and 1.4-fold, respectively. Both SNPs are located in the 3′untranslated region (3′UTR) of the respective genes. It was hypothesized that these non-coding SNPs may be exerting some transcriptional regulatory effects on gene expression. Their putative functional effects were further investigated by generating bioluminescent recombinant experimental reporter gene constructs carrying the ancestral and variant alleles of these 2 SNPs, transiently transfecting them in MCF-7 breast cancer cell lines and performing dual-luciferase reporter gene assays to measure the luminescent signals. Data description The normalized relative luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917 are presented herein. This data might be of relevance to other researchers involved in delineating the functional mechanisms of SNPs located in the 3′UTR of the XRCC2 and PHB breast cancer related genes

Autosomal dominant hereditary ataxia in Sri Lanka

Background Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Methods Thirty four patients with autosomal dominant ataxia were recruited. For every patient the following was done: recording of clinical details and genotyping for SCA 1, 2, 3, 6, 7, 8, 12, and 17. Results Sixty one per cent of the subjects were identified as SCA1. One subject had SCA2, 12 remain unidentified. Mean age at onset was 34.8 ± 10years for SCA1 and 32.7 ± 9.8 for non SCA1. 76% of SCA1 patients and 50% of non SCA1 were using walking aids. Quantification of symptoms and signs were similar in the SCA1 and non SCA1 groups. Clinical depression was evidenced in 68.4% of SCA1 and 75% non SCA-1 patients. Mean CAG repeat length in SCA1 patients was 52.0 ± 3.8, with greater anticipation seen with paternal inheritance. Conclusion SCA1 was the predominant subtype and showed similar phenotype to previous reports. However, disease severity was higher and depression more prevalent in this population than previously described

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Chromosomal abnormalities in patients with recurrent spontaneous pregnancy loss and sub-fertilit