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Background/objectives: The COVID-19 pandemic has profoundly affected the lives of adolescents worldwide, especially those living with chronic diseases. This study aims to explore the impact of the COVID-19 pandemic on the daily lives of adolescents with chronic diseases., Methods: This is a scoping review that follows the guidelines proposed by JBI. Eligibility criteria include articles focusing on adolescents aged 10 to 19 during the COVID-19 pandemic, regardless of chronic diseases. Searches were performed in PUBMED, LILACS, CINAHL, SCOPUS, grey literature, and manual searches in March 2024., Results: This review is composed of 35 articles. The analysis revealed two main categories: (1) Adolescents facing social isolation, school closure, and new family interactions, striving to reinvent themselves, and (2) Chasing the best decision: following up the chronic disease while fighting the COVID-19 pandemic. These categories encompass subcategories highlighting changes in social and family interactions and lifestyle habits. The findings suggest a multifaceted interaction of factors influencing adolescents' well-being, including improved family bonding, heightened disease management, and increased stress and strains on resources., Conclusions: This review emphasizes the importance of long-term follow-up and social inclusion efforts for adolescents with chronic diseases and their families, addressing their unique needs during public health crises.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80 % of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome. All cases showed lactic acidosis, cortical cerebral atrophy on magnetic resonance imaging and muscular system deficit, and in two of the cases alteration of urine organic acid levels was also registered. A screening for the mutation m.3243A>G in different patients' body samples confirmed the presence of this mutation with variable degrees of heteroplasmy (blood = 7-41 %, buccal mucosa = 14-53 %, urine = 58-94 %). The mitochondrial haplogroups for the three patients were different (H, C1b, and A2), indicating an independent origin for the mutation., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Objective: To describe the chemotherapy-associated symptoms and the strategies used for their management from the perspective of pediatric cancer patients' family caregivers., Methods: This is a descriptive study with qualitative data analysis. Data collection took place in a pediatric hospital, from December 2017 to December 2018, with family caregivers of pediatric patients undergoing chemotherapy. Semi-structured interviews, subjected to inductive content analysis, were carried out. Concepts from the Symptom Management Theory were used to discuss the results., Results: Eighteen family caregivers participated. The participants mentioned: physical symptoms, especially weakness, alopecia, low immunity, pain, mucositis, constipation, nausea, and vomiting; emotional or psychosocial symptoms such as sadness and mood changes; and constitutional symptoms such as loss of appetite and fever. Pharmacological and non-pharmacological measures were mentioned in the management of symptoms and adverse effects., Conclusion: Participants demonstrated skills to identify and manage symptoms of chemotherapy. Knowing the experience of these families can help nurses in planning care and interventions to minimize these events.

The slow scientific development in Latin America in recent decades has delayed the incorporation of laboratory animal experimentation; however, this situation has started to change. Today, extraordinary scientific progress is evident, which has promoted the introduction and increased use of laboratory animals as an important tool for the advancement of biomedical sciences. In the aftermath of this boom, the need to provide the scientific community with training and guidance in all aspects related to animal experimentation has arisen. It is the responsibility of each country to regulate this practice, for both bioethical and legal reasons, to ensure consideration of the animals' rights and welfare. The following manuscript is the result of papers presented at the International Workshop on Laboratory Animal Testing held at the Technical University of Ambato, Ecuador; it contains information regarding the current state of affairs in laboratory animal testing and emphasizes critical aspects such as main species used, ethical and legal principles, and experimental and alternative designs for animal use. These works aim to ensure good practices that should define scientific work. This document will be relevant to both researchers who aim to newly incorporate animal testing into their research and those who seek to update their knowledge.

Context: The prevalence of chronic disease in the United States is rapidly increasing, with a disproportionate number of underserved, vulnerable patients sharing the burden. The Patient-Centered Medical Home (PCMH) is a care delivery model that has shown promise to improve primary care and address the burden of chronic illness., Objective: The purpose of this study was to (1) understand patient characteristics that might influence perceived patient experience in a large primary care safety net undergoing PCMH transformation; (2) identify community-level quality improvement opportunities to support ongoing transformation activities; and (3) establish a baseline of patient experience across the primary care safety net that could be used in repeated evaluations over the course of transformation., Design: A cross-sectional study design was used to conduct this research., Setting and Participants: A total of 351 racially and ethnically diverse patients of 4 primary care safety net organizations in Broward County, Florida, were surveyed regarding their experience with access to care and coordination of care., Main Outcome Measure: Reported access to care and coordination of care., Results: Patients with chronic disease who reported having visited the clinic 3 or more times in the past 12 months reported a better coordination of care experience than patients who had fewer than 3 visits in the past 12 months (odds ratio = 3.57; 95% confidence interval, 1.76-7.24). Patients without chronic disease who had been receiving care at the clinic for 2 or more years of care reported worse experience with access to care than patients with less than 2 years of care (odds ratio = 0.26; 95% confidence interval, 0.11-0.60.) Race, ethnicity, language, and education were not significant predictors of patient experience., Conclusion: Findings support ongoing efforts to improve patient engagement among all patients and to enhance resources to manage chronic disease, including community-based self-management programs, in primary care safety nets undergoing PCMH transformation.

Objective: To develop and implement a Clinical and Business Intelligence (CBI) system for the Florida Health Data Warehouse (FHDW) in order to bridge the gap between Florida's healthcare stakeholders and the health data archived in FHWD., Materials and Methods: A gap analysis study has been conducted to evaluate the technological divide between the relevant users and FHWD health data, which is maintained by the Broward Regional Health Planning Council (BRHPC). The study revealed a gap between the health care data and the decision makers that utilize the FHDW data. To bridge the gap, a CBI system was proposed, developed and implemented by BRHPC as a viable solution to address this issue, using the System Development Life Cycle methodology., Results: The CBI system was successfully implemented and yielded a number of positive outcomes. In addition to significantly shortening the time required to analyze the health data for decision-making processes, the solution also provided end-users with the ability to automatically track public health parameters., Discussion: A large amount of data is collected and stored by various health care organizations at the local, state, and national levels. If utilized properly, such data can go a long way in optimizing health care services. CBI systems provide health care organizations with valuable insights for improving patient care, tracking trends for medical research, and for controlling costs., Conclusion: The CBI system has been found quite effective in bridging the gap between Florida's healthcare stake holders and FHDW health data. Consequently, the solution has improved in the planning and coordination of health care services for the state of Florida.

Leishmaniasis is parasitic disease that is an important problem of public health worldwide. Intramuscularly administered glucantime and pentostam are the most common drugs used for treatment of this disease, but they have significant limitations due to toxicity and increasing resistance. A recent breakthrough has been the introduction of orally administered miltefosine for the treatment of visceral, cutaneous, and mucocutaneous leishmaniasis, but the relative high cost and concerns about teratogenicity have limited the use of this drug. Searching for alternative drugs, we previously demonstrated that the antiarrhythmic drug amiodarone is active against Leishmania mexicana promastigotes and intracellular amastigotes, acting via disruption of intracellular Ca(2+) homeostasis (specifically at the mitochondrion and the acidocalcisomes of these parasites) and through inhibition of the parasite's de novo sterol biosynthesis (X. Serrano-Martín, Y. García-Marchan, A. Fernandez, N. Rodriguez, H. Rojas, G. Visbal, and G. Benaim, Antimicrob. Agents Chemother. 53:1403-1410, 2009). In the present work, we found that miltefosine also disrupts the parasite's intracellular Ca(2+) homeostasis, in this case by inducing a large increase in intracellular Ca(2+) levels, probably through the activation of a plasma membrane Ca(2+) channel. We also investigated the in vitro and in vivo activities of amiodarone and miltefosine, used alone or in combination, on L. mexicana. It was found that the drug combination had synergistic effects on the proliferation of intracellular amastigotes growing inside macrophages and led 90% of parasitological cures in a murine model of leishmaniasis, as revealed by a PCR assay using a novel DNA sequence specific for L. mexicana.

Introduction: Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1963, and eventually disappeared as a cause of mental retardation. Yet, this is not the case in most developing countries., Aim: To describe the phenotype and the genotype of PKU patients with a delayed diagnosis in order to draw attention to the importance of neonatal studies and molecular diagnosis., Patients and Methods: Clinical data were collected from five unrelated patients by means of a medical assessment. The molecular study was conducted using the DGGE, sequencing and/or restriction analysis techniques to search for mutations in the PAH gene. RESULTS. Owing to the delayed diagnosis all the patients presented severe clinical manifestations, such as psychomotor retardation, atypical behaviours and language disorders. Four of them presented epilepsy and there were two cases of microcephaly. The phenotype was as expected, given the genotype. Seven different mutations were detected in the 10 alleles that were studied. The IVS10nt +5 g>t mutation was the most frequent, followed by the Venezuelan mutation S349L. Furthermore, two patients presented mutated proteins with residual activity, and good results were obtained using BH4 therapy., Conclusions: In our country, as in most developing countries, PKU neonatal studies are performed but the programme does not cover the whole neonatal population. In this work, we want to stress the importance of neonatal studies in the welfare of children, as well as the use of molecular diagnosis to improve the therapeutic orientation and genetic counselling of the families involved.

This study describes for the first time the cystathionine beta-synthase (CBS) gene mutations in Venezuelan patients. A total of five disease-causing mutations were identified in 9 out of 10 independent chromosomes. Four of the mutations have been previously described (G85R, T191M, D234N, and D444N) and a novel mutation was found (Q243X). Two common polymorphisms (699C/T and 1080C/T) were found in the CBS gene. Mutation analysis was performed using a combined screening approach for CBS mutations: restriction analysis, single-strand conformational polymorphism (SSCP) scanning, and sequencing. All the mutations were detected in homozygous state, except for Q243X, detected in three heterozygous siblings. Each one of the patients studied presented a different mutation. All mutations and polymorphisms detected involved hypermutable CpG sites, except for the novel mutation Q243X. The most common mutations I278T and G307S were not found in any of the patients. The CBS mutations present in each country differ from each other depending on the demographic profile; therefore, specific mutations scanning must be performed in each population for diagnosis and prognosis purposes.

Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application of the DGGE scanning method in the remaining uncharacterized alleles. A total of 16 different mutations have been identified, including two novel ones, Q232X and IVS11nt5. The most frequent mutations were IVS10nt-11 and V388M present both in the 13% of the mutant chromosomes. The rest of the mutations are rare. The haplotype association including VNTR and STR alleles, was examined to investigated the origin and distribution of PAH alleles in Chile. Our results are consistent with Southern Europeans as the major source of PAH mutations in Latin America. However, we have also detected mutations from East and Central Europe, such IVS12nt1, R408W and R252W. It is clear that the PKU mutation present in each Latin American country varies with the demographic profile and specific mutation scanning is necessary in each population both for diagnostic and prognostic purposes. The correlation between the genotypes and the phenotypes is consistent with the emerging pattern of mutation severity deduced from previous studies in related populations.

This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylase gene in Venezuela. In this study, we have detected European mutations such as IVS10nt-11, R243Q, and R408W on the same haplotype background (6.7, 1.8, and 2.3, respectively) as in Europe. In this sample, we have found two novel mutations: S349L detected in two homozygous siblings on the background of haplotype 6.7, and a small deletion, P314fsdelC, that results in a frameshift and a premature stop codon detected on the background of haplotype 4.3. The definite demonstration that mutation S349L results in a nonfunctional protein was shown by expression analysis in prokaryotic and eukaryotic systems. This mutation results in an unstable phenylalanine hydroxylase (PAH) protein completely devoid of enzymatic activity well correlated with the severe form of the disease exhibited by the homozygous patients.

Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and has 43% residual activity, which correlates well with the mild phenotype exhibited by the homozygous patients. In Spain it has been detected in 5.7% of the mutant alleles and is always associated with haplotype 1.7. This mutation is also present in high frequency in some Latin American countries (Brazil, 9%; Chile, 13%). It is interesting that in Chile most of the alleles bearing this mutation carry haplotype 4.3, although in Brazil it is found only on the background of haplotype 1.7. The origin of V388M in Spain on haplotype 1.7 and in Chile on haplotype 4.3 is clearly different. Recurrence is the most plausible explanation, because the mutation involves a CpG dinucleotide, and a recombination event transferring the mutation from haplotype 1 to 4 is unlikely.

In order to characterize the molecular heterogeneity of phenylalanine hydroxylase deficiencies in the Spanish population, 37 PKU patients were initially screened for 16 known European mutations. For the remaining unidentified alleles, we used a combined strategy based on single strand conformation polymorphism analysis and DNA sequencing. Overall, a total of 15 different mutations were found in our sample, which account for 62% of the total mutant alleles. We also investigated the association between the mutations, haplotypes and variable number of tandem repeats described on the phenylalanine hydroxylase gene. In addition, we analyzed the geographical distribution in Spain of the two most prevalent mutations in our population: IVS10 and I65T.