Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression. There are still disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.

Human pathology in NCL.

In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent neurodegenerative diseases but, in adulthood, they represent a small fraction among the neurodegenerative diseases. Their morphology is marked by: (i) loss of neurons, foremost in the cerebral and cerebellar cortices resulting in cerebral and cerebellar atrophy; (ii) an almost ubiquitous accumulation of lipopigments in nerve cells, but also in extracerebral tissues. Loss of cortical neurons is selective, indiscriminate depletion in early childhood forms occurring only at an advanced stage, whereas loss of neurons in subcortical grey-matter regions has not been quantitatively documented. Among the fourteen different forms of NCL described to date, CLN1 and CLN10 are marked by granular lipopigments, CLN2 by curvilinear profiles (CVPs), CLN3 by fingerprint profiles (FPPs), and other forms by a combination of these features. Among extracerebral tissues, lymphocytes, skin, rectum, skeletal muscle and, occasionally, conjunctiva are possible guiding targets for diagnostic identification, the precise type of NCL then requiring molecular analysis within the clinical and morphological context. Autosomal-recessive adult NCL has been linked molecularly to different childhood forms, i.e. CLN1, CLN5, and CLN6, whilst autosomal-dominant adult NCL, now designated as CLN4, is caused by a newly identified separate gene, DNAJC5. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.

Adoption of electronic patient medication records in community pharmacies in the United Arab Emirates: A cross-sectional survey.

BACKGROUND: Access to accurate and relevant patient health information is crucial for community pharmacists to deliver high-quality care. The use of electronic patient medication records (e-PMR) in the United Arab Emirates (UAE) is currently limited to hospital settings, and community pharmacists do not have access to patient records. OBJECTIVE: To evaluate the perceptions of community pharmacists regarding the potential benefits, barriers, and concerns associated with the implementation of the e-PMR system in community pharmacies in the UAE. METHOD: A validated questionnaire was administered to a sample of licensed community pharmacists using proportionate random sampling. The survey was structured and consisted of 40 questions in four sections: characteristics of community pharmacists and pharmacies; perceived usefulness of e-PMR; perceived barriers; and concerns about the use of e-PMR. RESULTS: In total, 552 pharmacists filled out the questionnaire (82.1% response rate). The majority of participants somewhat or strongly agreed that e-PMR would reduce drug abuse (71.6%), dispensing errors (64.4%) and prescribing errors (69.0%), and believed that e-PMR would enhance pharmacists' ability to perform medication reviews (76.0%). Pharmacists in charge (adjusted odds ratio (AOR) = 2.5; 95% confidence interval (CI): 1.6-3.6), facing difficulty tracking the medical history of patients (AOR = 3.2; 95% CI: 2.8-3.9) and working in pharmacies providing telepharmacy services (AOR = 3.4; 95% CI: 2.7-3.8) were more likely to consider e-PMR useful. IMPLICATIONS: The implementation of the e-PMR system in community pharmacies has potential benefits for patient safety and medication therapy management in the UAE.

Colorectal ESD: current indications and latest technical advances.

The number of medical facilities that perform colorectal endoscopic submucosal dissection (ESD) has been growing, and its effectiveness has been increasingly reported in recent years. Indications approved by the Japanese government's medical insurance system are early colorectal cancers with a maximum tumor size of 2-5 cm. ESD was an effective procedure for treating noninvasive colorectal tumors difficult to resect en bloc by conventional EMR, resulting in a higher en bloc resection rate that is less invasive than surgery. Based on the excellent clinical results of colorectal ESDs, the Japanese health care insurance system has approved colorectal ESD for coverage.