Population dynamics of the pine wood nematode, Bursaphelenchus xylophilus, in excised branch segments of western north american conifers

La dynamique des populations de deux souches de nématode des pins (#Bursaphelenchus xylophilus) a été étudiée dans des segments de branche excisés d'#Abies grandis, #Pinus contorta, #Pseudotsuga menziesii, #Tsuga heterophylla et #Thuja plicata dans lesquels on a inoculé le champignon responsable du bleuissement (#Ophiostoma piceae). Des nématodes ont été inoculés avec le champignon dans de petits trous percés au centre des segments de branche. La taille et la structure par âge des populations de nématode ont été déterminées à intervalles de temps réguliers après l'inoculation. La population de nématode s'est développée dans les segments de branche de toutes les essences analysées. Toutefois, les densités de population étaient beaucoup plus importantes chez #P. contorta que chez les autres essences. Dans une des expériences, les nombres respectifs de nématodes dans les segments de branche de #P. contorta, #A. grandis, #P. menziesii, #T. heterophylla et #T. plicata, qui étaient de 2,0 ; 0,02 ; 0,1 ; 0,04 et 0,05 nématodes par gramme de bois sec 2 semaines après l'inoculation, sont passés à 57, 15, 11, 13 et 6 nématodes par gramme de bois sec après 16 semaines. L'abondance relative des juvéniles persistants du troisième stade (J3P) a augmenté avec le temps chez toutes les essences et elle était supérieure chez #P. contorta à la plupart des dates d'échantillonnage. L'abondance relative des J3P était significativement plus importante chez #P. contorta$ que chez les autres essences dans une des deux expériences seulement. (Résumé d'auteur

Distribution and reproduction of Bursaphelenchus xylophilus populations in wood and bark of western north american conifers

La croissance de population de #Bursaphelenchus xylophilus a été étudiée dans le bois et l'écorce d'#Abies grandis, #Pinus contorta, #Pseudotsuga menziesii, #Tsuga heterophylla et #Thuja plicata. Le nématode a été inoculé dans des tronçons de tige (6 cm de diamètre et 25 cm de longueur) de chaque essence, puis mis en incubation dans des sacs de plastique, à la température ambiante (22 plus ou moins 4°C). Les populations de nématodes ont été échantillonnées séparément dans le bois et l'écorce de chaque essence 4, 8 et 16 semaines après l'inoculation. Dans le bois, pour l'ensemble des dates d'échantillonnage, la densité moyenne était de 233, 13, 12, 2 et 0,03 nématodes par gramme de bois sec pour #P. contorta, #P. menziesii, #A. grandis, #T. heterophylla et #T. plicata respectivement. Dans l'écorce, pour les mêmes essences, la densité était de 70, 267, 88, 113 et 21 nématodes par gramme d'écorce sèche. La croissance des populations de nématodes a été également étudiée dans les bois et l'écorce de chacune des essences finement hachés, stérilisés ou non à l'autoclave et sur du papier filtre imbibé d'un extrait à l'éthanol d'aubier de #P. contorta et de #P. menziesii. Que le bois soit stérilisé ou non, la plus forte densité de nématodes est observée chez #P. contorta. Après 6 semaines, dans le bois non chauffé, la densité était de 137, 46, 5, 23 et 1 nématodes par gramme de bois sec pour #P. contorta, #P. menziesii, #A. grandis, #T. heterophylla et #T. plicata, respectivement. Par ailleurs, les populations de nématodes croissaient plus rapidement dans le papier filtre imbibé d'extrait de #P. contorta que dans celui imbibé d'extrait de #P. menziesii$. (Résumé d'auteur

Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. Clinical features may be subtle and highly variable, making the diagnosis of PCD challenging. The diagnosis can be confirmed with ciliary ultrastructure analysis and/or molecular genetic testing of 32 PCD-associated genes. However, because of this genetic heterogeneity, comprehensive molecular genetic testing is not considered the standard of care, and the most efficient molecular approach has yet to be elucidated. Here, we propose a cost-effective and time-efficient molecular genetic algorithm to solve cases of PCD. We conducted targeted copy number variation (CNV) analysis and/or whole-exome sequencing on 20 families (22 patients) from a subset of 45 families (52 patients) with a clinical diagnosis of PCD who did not have a molecular genetic diagnosis after Sanger sequencing of 12 PCD-associated genes. This combined molecular genetic approach led to the identification of 4 of 20 (20%) families with clinically significant CNVs and 7 of 20 (35%) families with biallelic pathogenic mutations in recently identified PCD genes, resulting in an increased molecular genetic diagnostic rate of 55% (11/20). In patients with a clinical diagnosis of PCD, whole-exome sequencing followed by targeted CNV analysis results in an overall molecular genetic yield of 76% (34/45)

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Introduction Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH. Main recommendations Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance. Potential impact on care of FH These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors and appropriate use of low-density lipoprotein (LDL)-cholesterol-lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. New government-funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH

Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH