Literature Watch
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
PLoS One. 2018;13(7):e0200446
Authors: Santoro C, Giugliano T, Kraemer M, Torella A, Schwitalla JC, Cirillo M, Melis D, Berlit P, Nigro V, Perrotta S, Piluso G
Abstract
BACKGROUND AND PURPOSE: Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations. When associated with other medical conditions, such as neurofibromatosis type 1, this vasculopathy is frequently reported as moyamoya syndrome. Intriguingly, most cases of moyamoya-complicated neurofibromatosis type 1 have been described in Caucasians, inverting the population ratio observed in Asians, although prevalence of neurofibromatosis type 1 is constant worldwide. Our aim was to investigate whether, among Caucasians, additive genetic factors may contribute to the occurrence of moyamoya in neurofibromatosis type 1.
METHODS: Whole exome sequencing was carried out on an Italian family with moyamoya-complicated neurofibromatosis type 1 to identify putative genetic modifiers independent of the NF1 locus and potentially involved in moyamoya pathogenesis. Results were validated in an unrelated family of German ancestry.
RESULTS: We identified the p.P186S substitution (rs35857561) in MRVI1 that segregated with moyamoya syndrome in both the Italian and German family.
CONCLUSIONS: The rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1. MRVI1 is a functional partner of ITPR1, PRKG1 and GUCY1A3, which are involved in response to nitric oxide. Mutations in GUCY1A3 have been recently linked to a recessive syndromic form of moyamoya with esophageal achalasia.
PMID: 30001348 [PubMed - in process]
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Genet Med. 2018 Jul 12;:
Authors: Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G
Abstract
PURPOSE: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome-based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative disease.
METHODS: We introduce Phrank (for phenotype ranking), an information theory-inspired method that utilizes a Bayesian network to prioritize candidate diseases or genes, as a stand-alone module that can be run with any underlying knowledgebase and any variant filtering scheme.
RESULTS: Phrank outperforms existing methods at ranking the causative disease or gene when applied to 169 real patient exomes with Mendelian diagnoses. Phrank's greatest improvement is in disease space, where across all 169 patients it ranks only 3 diseases on average ahead of the true diagnosis, whereas Phenomizer ranks 32 diseases ahead of the causal one.
CONCLUSIONS: Using Phrank to rank all patient candidate genes or diseases, as they start working through a new case, will save the busy clinician much time in deriving a genetic diagnosis.
PMID: 29997393 [PubMed - as supplied by publisher]
Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.
Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.
Circ Genom Precis Med. 2018 Jul;11(7):e002099
Authors: Yang X, Li J, Fang Y, Zhang Z, Jin D, Chen X, Zhao Y, Li M, Huan L, Kent TA, Dong JF, Jiang R, Yang S, Jin L, Zhang J, Zhong TP, Yu F
Abstract
BACKGROUND: Intracranial aneurysm (IA) is usually a late-onset disease, affecting 1% to 3% of the general population and leading to life-threatening subarachnoid hemorrhage. Genetic susceptibility has been implicated in IAs, but the causative genes remain elusive.
METHODS: We performed next-generation sequencing in a discovery cohort of 20 Chinese IA patients. Bioinformatics filters were exploited to search for candidate deleterious variants with rare and low allele frequency. We further examined the candidate variants in a multiethnic sample collection of 86 whole exome sequenced unsolved familial IA cases from 3 previously published studies.
RESULTS: We identified that the low-frequency variant c.4394C>A_p.Ala1465Asp (rs2298808) of ARHGEF17 was significantly associated with IA in our Chinese discovery cohort (P=7.3×10-4; odds ratio=7.34). It was subsequently replicated in Japanese familial IA patients (P=0.039; odds ratio=4.00; 95% confidence interval=0.832-14.8) and was associated with IA in the large Chinese sample collection comprising 832 sporadic IA-affected and 599 control individuals (P=0.041; odds ratio=1.51; 95% confidence interval=1.02-Inf). When combining the sequencing data of all familial IA patients from 4 different ethnicities (ie, Chinese, Japanese, European American, and French-Canadian), we identified a significantly increased mutation burden for ARHGEF17 (21/106 versus 11/306; P=8.1×10-7; odds ratio=6.6; 95% confidence interval=2.9-15.8) in cases as compared with controls. In zebrafish, arhgef17 was highly expressed in the brain blood vessel. arhgef17 knockdown caused blood extravasation in the brain region. Endothelial lesions were identified exclusively on cerebral blood vessels in the arhgef17-deficient zebrafish.
CONCLUSIONS: Our results provide compelling evidence that ARHGEF17 is a risk gene for IA.
PMID: 29997225 [PubMed - in process]
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
BMC Med Genet. 2018 Jul 11;19(1):114
Authors: Lin Y, Lin C, Lin W, Zheng Z, Han M, Fu Q
Abstract
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA); or deficiency of the enzyme methylmalonyl-CoA epimerase. The cblA type of MMA is very rare in China. This study aimed to describe the biochemical, clinical, and genetic characteristics of two siblings in a Chinese family, suspected of having the cblA-type of MMA.
METHODS: The Chinese family of Han ethnicity of two siblings with the cblA-type of MMA, was enrolled. Target-exome sequencing was performed for a panel of MMA-related genes to detect causative mutations. The influence of an identified missense variant on the protein's structure and function was analysed using SIFT, PolyPhen-2, PROVEAN, and MutationTaster software. Moreover, homology modelling of the human wild-type and mutant proteins was performed using SWISSMODEL to evaluate the variant.
RESULTS: The proband was identified via newborn screening (NBS); whereas, her elder brother, who had not undergone expanded NBS, was diagnosed later through genetic family screening. The younger sibling exhibited abnormal biochemical manifestations, and the clinical performance was relatively good after treatment, while the older brother had a mild biochemical and clinical phenotype, mainly featuring poor academic performance. A novel, homozygous missense c.365T>C variant in exon 2 of their MMAA genes was identified using next-generation sequencing and validated by Sanger sequencing. Several different types of bioinformatics software predicted that the novel variant c.365T>C (p.L122P) was deleterious. Furthermore, three-dimensional crystal structure analysis revealed that replacement of Leu122 with Pro122 led to the loss of two intramolecular hydrogen bonds between the residue at position 122 and Leu188 and Ala119, resulting in instability of the MMAA protein structure.
CONCLUSIONS: The two siblings suspected of having the cblA-type of MMA showed mild phenotypes during follow-up, and a novel, homozygous missense variant in their MMAA genes was identified. We believe that the clinical features of the two siblings were associated with the MMAA c.365T>C variant; however, further functional studies are warranted to confirm the variant's pathogenicity.
PMID: 29996803 [PubMed - in process]
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
PLoS One. 2018;13(4):e0194098
Authors: Pritchard AL, Johansson PA, Nathan V, Howlie M, Symmons J, Palmer JM, Hayward NK
Abstract
BACKGROUND: While a number of autosomal dominant and autosomal recessive cancer syndromes have an associated spectrum of cancers, the prevalence and variety of cancer predisposition mutations in patients with multiple primary cancers have not been extensively investigated. An understanding of the variants predisposing to more than one cancer type could improve patient care, including screening and genetic counselling, as well as advancing the understanding of tumour development.
METHODS: A cohort of 57 patients ascertained due to their cutaneous melanoma (CM) diagnosis and with a history of two or more additional non-cutaneous independent primary cancer types were recruited for this study. Patient blood samples were assessed by whole exome or whole genome sequencing. We focussed on variants in 525 pre-selected genes, including 65 autosomal dominant and 31 autosomal recessive cancer predisposition genes, 116 genes involved in the DNA repair pathway, and 313 commonly somatically mutated in cancer. The same genes were analysed in exome sequence data from 1358 control individuals collected as part of non-cancer studies (UK10K). The identified variants were classified for pathogenicity using online databases, literature and in silico prediction tools.
RESULTS: No known pathogenic autosomal dominant or previously described compound heterozygous mutations in autosomal recessive genes were observed in the multiple cancer cohort. Variants typically found somatically in haematological malignancies (in JAK1, JAK2, SF3B1, SRSF2, TET2 and TYK2) were present in lymphocyte DNA of patients with multiple primary cancers, all of whom had a history of haematological malignancy and cutaneous melanoma, as well as colorectal cancer and/or prostate cancer. Other potentially pathogenic variants were discovered in BUB1B, POLE2, ROS1 and DNMT3A. Compared to controls, multiple cancer cases had significantly more likely damaging mutations (nonsense, frameshift ins/del) in tumour suppressor and tyrosine kinase genes and higher overall burden of mutations in all cancer genes.
CONCLUSIONS: We identified several pathogenic variants that likely predispose to at least one of the tumours in patients with multiple cancers. We additionally present evidence that there may be a higher burden of variants of unknown significance in 'cancer genes' in patients with multiple cancer types. Further screens of this nature need to be carried out to build evidence to show if the cancers observed in these patients form part of a cancer spectrum associated with single germline variants in these genes, whether multiple layers of susceptibility exist (oligogenic or polygenic), or if the occurrence of multiple different cancers is due to random chance.
PMID: 29641532 [PubMed - indexed for MEDLINE]
Genetic Influences on Evening Preference Overlap with Those for Bipolar Disorder in a Sample of Mexican Americans and American Indians.
Genetic Influences on Evening Preference Overlap with Those for Bipolar Disorder in a Sample of Mexican Americans and American Indians.
Twin Res Hum Genet. 2017 Dec;20(6):499-510
Authors: Melroy-Greif WE, Gizer IR, Wilhelmsen KC, Ehlers CL
Abstract
Diurnal preference (e.g., being an owl or lark) has been associated with several psychiatric disorders including bipolar disorder (BP), major depressive disorder, and substance use disorders. Previous large-scale genome-wide association studies (GWAS) aimed at identifying genetic influences on diurnal preference have exclusively included subjects of European ancestry. This study examined the genetic architecture of diurnal preference in two minority samples: a young adult sample of Mexican Americans (MAs), and a family-based sample of American Indians (AIs). Typed or imputed variants from exome chip data from the MA sample and low pass whole-genome sequencing from the AI cohort were analyzed using a mixed linear model approach for association with being an owl, as defined by a usual bedtime after 23:00 hrs. Genetic risk score (GRS) profiling detected shared genetic risk between evening preference and related disorders. Four variants in KIAA1549 like (KIAA1549L), a gene previously associated with attempted suicide in bipolar patients, were suggestively associated with being an owl at p < 1.82E-05; post hoc analyses showed the top variant trending in both the MA and AI cohorts at p = 2.50E-05 and p = .030, respectively. Variants associated with BP at p < .03 from the Psychiatric Genomics Consortium nominally predicted being an owl in the MA/AI cohort at p = .012. This study provides some additional evidence that genetic risk factors for BP also confer risk for being an owl in MAs/AIs and that evening preference may be a useful endophenotype for future studies of BP.
PMID: 29192581 [PubMed - indexed for MEDLINE]
"systems biology"; +15 new citations
15 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
These pubmed results were generated on 2018/07/13
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("drug-induced" OR "drug-related") AND ("adverse events" OR "side effects" OR "side-effects"); +16 new citations
16 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("drug-induced" OR "drug-related") AND ("adverse events" OR "side effects" OR "side-effects")
These pubmed results were generated on 2018/07/13
PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
NIAID OMNIBUS BROAD AGENCY ANNOUNCEMENT No. HHS-NIH-NIAID-BAA2018: Soliciting Proposals for Antimicrobial Products, Novel Vaccines and Technologies Against Category A, B, and C Agents, and Universal Influenza Vaccines
Time-Sensitive Obesity Policy and Program Evaluation (R01 Clinical Trial Not Allowed)
pharmacogenomics; +15 new citations
15 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
These pubmed results were generated on 2018/07/12
PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
"systems biology"; +19 new citations
19 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
These pubmed results were generated on 2018/07/12
PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Computational drug repositioning with random walk on a heterogeneous network.
Computational drug repositioning with random walk on a heterogeneous network.
IEEE/ACM Trans Comput Biol Bioinform. 2018 May 02;:
Authors: Luo H, Wang J, Li M, Luo J, Ni P, Zhao K, Wu F, Pan Y
Abstract
Drug repositioning is an efficient and promising strategy to identify new indications for existing drugs, which can improve the productivity of traditional drug discovery and development. Rapid advances in high-throughput technologies have generated various types of biomedical data over the past decades, which lay the foundations for furthering the development of computational drug repositioning approaches. Although many researches have tried to improve the repositioning accuracy by integrating information from multiple sources and different levels, it is still appealing to further investigate how to efficiently exploit valuable data for drug repositioning. In this study, we propose an efficient approach, RWHNDR (Random Walk on a Heterogeneous Network for Drug Repositioning), to prioritize candidate drugs for diseases. First, an integrated heterogeneous network is constructed by combining multiple sources including drugs, drug targets, diseases and disease genes data. Then, a random walk model is developed to capture the global information of the heterogeneous network. RWHNDR takes advantage of drug targets and disease genes data more comprehensively for drug repositioning. The experiment results show that our approach achieves well improved performance, compared with other state-of-the-art approaches which prioritized candidate drugs based on multi-source data.
PMID: 29994051 [PubMed - as supplied by publisher]
Constructing Disease Similarity Networks Based on Disease Module Theory.
Constructing Disease Similarity Networks Based on Disease Module Theory.
IEEE/ACM Trans Comput Biol Bioinform. 2018 Mar 21;:
Authors: Ni P, Wang J, Zhong P, Li Y, Wu F, Pan Y
Abstract
Quantifying the associations between diseases is now playing an important role in modern biology and medicine, as discovering associations between diseases could help us gain deeper insights into pathogenic mechanisms of complex diseases, thus could lead to improvements in disease diagnosis, drug repositioning and drug development. Due to the growing body of high-throughput biological data, a number of methods have been developed for computing similarity between diseases during the past decade. However, these methods rarely consider the interconnections of genes related to each disease in protein-protein interaction network (PPIN). Recently, the disease module theory has been proposed, which states that disease-related genes or proteins tend to interact with each other in the same neighborhood of a PPIN. In this study, we propose a new method called ModuleSim to measure associations between diseases by using disease-gene association data and PPIN data based on disease module theory. The experimental results show that by considering the interactions between disease modules and each module's modularity, the disease similarity calculated by ModuleSim has a significant correlation with disease classification of Disease Ontology (DO). Furthermore, ModuleSim outperforms other four popular methods which are all using disease-gene association data and PPIN data. In addition, MoudleSim also is capable of finding potential associations between diseases.
PMID: 29993782 [PubMed - as supplied by publisher]
DrPOCS: Drug repositioning based on projection onto convex sets.
DrPOCS: Drug repositioning based on projection onto convex sets.
IEEE/ACM Trans Comput Biol Bioinform. 2018 Apr 26;:
Authors: Wang YY, Cui C, Qi L, Yan H, Zhao X
Abstract
Drug repositioning, i.e. identifying new indications for known drugs, has attracted a lot of attentions recently and is becoming an effective strategy in drug development. In literature, several computational approaches have been proposed to identify potential indications of old drugs based on various types of data sources. In this paper, by formulating the drug-disease associations as a low-rank matrix, we propose a novel method, namely DrPOCS, to identify candidate indications of old drugs based on projection onto convex sets (POCS). With the integration of drug structure and disease phenotype information, DrPOCS predicts potential associations between drugs and diseases with matrix completion. Benchmarking results demonstrate that our proposed approach outperforms popular existing approaches with high accuracy. In addition, a number of novel predicted indications are validated with various types of evidences, indicating the predictive power of our proposed approach.
PMID: 29993698 [PubMed - as supplied by publisher]
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge.
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge.
Acta Med Iran. 2018 Jan;56(1):62-66
Authors: Marčić M, Marčić L, Titlić M
Abstract
Kleine-Levin syndrome (KLS) is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hyper sexuality. Etiology is unknown, and there is no specific clinical or imaging test for this syndrome even though the illness has well-defined clinical features. Also, there is no effective treatment for KLS. KLS is self-limited, so the prognosis for these patients is not so bad. This study presents our case report and comprehensive workout that led to diagnosis which is primarily clinical. Our patient is a 20-year-old man referred to our clinic because of sleeping problems. At the age of 14, he presented with complaints of the excessive duration of sleep, increased appetite, excessive daytime sleepiness, loss of interest in social activities during attendance of high school and hallucinations. The excessive diagnostic procedure does not find pathological. Kleine-Levin syndrome (KLS) is a rare sleep disorder of unknown etiology which diagnosis is clinical and diagnostic workup is mainly to exclude other similar conditions. There is no specific therapy, but the disease is self-limited and with good prognosis.
PMID: 29436797 [PubMed - indexed for MEDLINE]
Cost of Hospitalizations due to Exacerbation in Patients with Non-Cystic Fibrosis Bronchiectasis.
Cost of Hospitalizations due to Exacerbation in Patients with Non-Cystic Fibrosis Bronchiectasis.
Respiration. 2018 Jul 11;:1-11
Authors: de la Rosa Carrillo D, Navarro Rolon A, Girón Moreno RM, Montull Veiga B, Olveira Fuster C, Padilla Galo A, Prados Sánchez C, Quintana Gallego E, Sibila Vidal O, Celorrio Jiménez N, Ruiz Peña A, Torres Martí A, Avilés Inglés MJ, Blanco Aparicio M, García-Clemente M, Golpe Gómez R, Gómez Bonilla A, Gómez González C, Leal Arranz MV, Mínguez Clemente P, López Muñiz B, Máiz Carro L, Pando Sandoval A, Rodríguez Hermosa JL, Uranga Echeverria A, Núñez Ares A, López Roldán L, Abellán Martínez C, Martínez García AJ, Michel de la Rosa FJ, Godoy Mayoral R, Martínez-García MÁ
Abstract
BACKGROUND: Knowing the cost of hospitalizations for exacerbation in bronchiectasis patients is essential to perform cost-effectiveness studies of treatments that aim to reduce exacerbations in these patients.
OBJECTIVES: To find out the mean cost of hospitalizations due to exacerbations in bronchiectasis patients, and to identify factors associated with higher costs.
METHODS: Prospective, observational, multicenter study in adult bronchiectasis patients hospitalized due to exacerbation. All expenses from the patients' arrival at hospital to their discharge were calculated: diagnostic tests, treatments, transferals, home hospitalization, admission to convalescence centers, and hospitals' structural costs for each patient (each hospital's tariff for emergencies and 70% of the price of a bed for each day in a hospital ward).
RESULTS: A total of 222 patients (52.7% men, mean age 71.8 years) admitted to 29 hospitals were included. Adding together all the expenses, the mean cost of the hospitalization was EUR 5,284.7, most of which correspond to the hospital ward (86.9%), and particularly to the hospitals' structural costs. The adjusted multivariate analysis showed that chronic bronchial infection by Pseudomonas aeruginosa, days spent in the hospital, and completing the treatment with home hospitalization were factors independently associated with a higher overall cost of the hospitalization.
CONCLUSIONS: The mean cost of a hospitalization due to bronchiectasis exacerbation obtained from the individual data of each episode is higher than the cost per process calculated by the health authorities. The most determining factor of a higher cost is chronic bronchial infection due to P. aeruginosa, which leads to a longer hospital stay and the use of home hospitalization.
PMID: 29996130 [PubMed - as supplied by publisher]
V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.
V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.
Medicine (Baltimore). 2018 Jul;97(28):e11397
Authors: Fernández-Lorenzo AE, Moreno-Álvarez A, Colon-Mejeras C, Barros-Angueira F, Solar-Boga A, Sirvent-Gómez J, Couce ML, Leis R
Abstract
The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.695T > A). The aim of this study was to describe CF patients with the V232D mutation. We identify CF children with the V232D mutation detected by NBS and compare them with CF adults with this mutation whose diagnosis was prompted by clinical symptoms in the same period. We studied clinical, biochemical, spirometric, and prognostic features in both populations. NBS program tested 276,523 children during a period of 14 years (2003-2017) and identified 54 cases of CF. Six children (11%) had the V232D mutation. Over the same period, 5 adults (age 37.6 ± 16.29 years old) with symptoms of CF and this mutation were also diagnosed. Follow-up duration was mean 10.1 years for adults and mean 6.5 years for children. In the adult group, lung function was impaired at diagnosis in all patients (Forced Expiratory Volume1-FEV1-67.12% ± 13.09) and worsened in children tested during evolution (FEV1first: 113%; FEV1last: 64%). Pancreatic insufficiency was present in adult group, with recurrent pancreatitis in 1 present. Although with less clinical expression in children, V232D is associated with pulmonary and pancreatic involvement during adulthood and CF cannot be considered mild. This mutation is present in 11% of all patients diagnosed with CF in our region. Its inclusion in some NBS programs should be taken into account in order to improve the prognosis of affected children.
PMID: 29995784 [PubMed - in process]
The myriad challenges of respiratory fungal infection in cystic fibrosis.
The myriad challenges of respiratory fungal infection in cystic fibrosis.
Pediatr Pulmonol. 2018 Jul 10;:
Authors: Tracy MC, Moss RB
Abstract
Fungal infection in cystic fibrosis (CF) is a recognized challenge, with many areas requiring further investigation. Consensus definitions exist for allergic bronchopulmonary aspergillus in CF, but the full scope of clinically relevant non-allergic fungal disease in CF-asymptomatic colonization, transient or chronic infection localized to endobronchial mucus plugs or airway tissue, and invasive disease-is yet to be clearly defined. Recent advances in mycological culture and non-culture identification have expanded the list of both potential pathogens and community commensals in the lower respiratory tract. Here we aim to outline the current understanding of fungal presence in the CF respiratory tract, risk factors for acquiring fungi, host-pathogen interactions that influence the role of fungi from bystander to pathogen, advances in the diagnostic approaches to isolating and identifying fungi in CF respiratory samples, challenges of classifying clinical phenotypes of CF patients with fungi, and current treatment approaches. Development and validation of biomarkers characteristic of different fungal clinical phenotypes, and controlled trials of antifungal agents in well-characterized target populations, remain central challenges to surmount and goals to be achieved.
PMID: 29992775 [PubMed - as supplied by publisher]
School Professionals' Knowledge and Beliefs About Youth With Chronic Illness.
School Professionals' Knowledge and Beliefs About Youth With Chronic Illness.
J Sch Health. 2018 Aug;88(8):615-623
Authors: Berger C, Valenzuela J, Tsikis J, Fletcher C
Abstract
BACKGROUND: Existing research demonstrates that youth with chronic illness often experience challenges including poor academic performance, attendance, and social success. However, past research demonstrates a lack of support for teachers to best educate students with chronic illness. In this study, we aim to describe the needs of local educators when working with students with chronic illness.
METHODS: A questionnaire was completed by 383 middle or high school professionals. Responses were analyzed using descriptive statistics. ANOVA was used to examine differences between school professional groups and chronic illness types.
RESULTS: Participants tended to disagree that students with chronic illness faced challenges in school and agreed that they had enough support to meet students' needs. They tended to agree that more collaboration between the health care team, schools, and families was needed. Participants reported feeling least prepared in working with students who had cystic fibrosis, epilepsy, or sickle cell disease. School nurses were more likely to recognize the challenges, supports, and collaboration needed.
CONCLUSIONS: More training and support is needed for school professionals in their work with students with chronic illness. Assessments may be useful at a local level to help schools develop better policies and plans for educating youth with chronic illness.
PMID: 29992609 [PubMed - in process]
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