SummaryAccurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next‐generation‐sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical‐grade validation of negative results requires the test to distinguish between lack of adequate sequencing reads at the locations of known mutations and a real absence of mutations. To achieve a clinically‐reliable diagnostic test and minimize false‐negative results we developed an open‐source tool (CoverMi) to accurately determine base‐coverage and the ‘discoverability’ of known mutations for every sample. We validated our 33‐gene panel using Sanger sequencing and microarray. Our panel demonstrated 100% specificity and 99·7% sensitivity. We then analysed 57 clinical samples: molecular diagnoses were made in 22/57 (38·6%), corresponding to 32 mutations of which 16 were new. In all cases, accurate molecular diagnosis had a positive impact on clinical management. Using a validated NGS‐based platform for routine molecular diagnosis of previously undiagnosed congenital anaemias is feasible in a clinical diagnostic setting, improves precise diagnosis and enhances management and counselling of the patient and their family.

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Summary. Mantle cell lymphoma is an aggressive B-cell lymphoma with a poor median survival despite conventional therapy. Here, we present the case of a patient with multiply relapsed mantle cell lymphoma, having failed treatment with chemotherapy, steroids and rituximab. He was treated with single-agent thalidomide at a dose of 800 mg daily and entered a good partial remission which was maintained for the next 6 months. There is clearly a need for further studies of thalidomide in mantle cell lymphoma to confirm this promising initial result.

Forest management regimes increasingly focus on the emulation of natural disturbance events, e.g., fire or insect outbreaks, to help increase ecosystem sustainability. We determined the residual stand response to a variable retention harvest inspired by spruce budworm (Choristoneura fumiferana (Clemens)) outbreaks in New Brunswick, Canada. Our objectives were to analyze the differences between surviving residual trees and those that succumbed to windthrow and to quantify growth release. The treatment was based on harvesting the estimated spruce budworm outbreak mortality, i.e., 90% of mature balsam fir (Abies balsamea (L.) Mill., 60% of mature spruce (Picea spp.), and no hardwoods. Windthrow increased with the proportion of trees harvested and averaged 52% over 7-9 years in these stands with high balsam fir -spruce content. One-third of 42 harvested plots sustained >30% windthrow, whereas 73% of 11 similar unharvested plots had <10% windthrow. Balsam fir had higher windthrow than spruce at 53% and 41%, respectively. Windthrown balsam fir trees had significantly larger diameters at breast height (DBH, 1.3 m), larger heights, and smaller crown ratios than surviving residual trees. Substantial growth release occurred, with DBH increment of residual trees 48%-64% greater than trees in unharvested plots. Balsam fir and intolerant hardwoods exhibited the largest growth response. We suggest that future spruce budworm inspired harvests in stands with high balsam fir -spruce content use two or three entries about 5 years apart to reduce windthrow.Key words: balsam fir, blowdown, natural disturbance based management, mixed forest, tree growth, variable retention harvest. Résumé :De plus en plus, les régimes d'aménagement forestier tendent à imiter les perturbations naturelles, c.-à-d, le feu ou les épidémies d'insecte, pour accroître la durabilité des écosystèmes. Nous avons déterminé la réaction des peuplements résiduels à la coupe avec rétention variable inspirée des épidémies de la tordeuse des bourgeons de l'épinette (Choristoneura fumiferana (Clemens)) au Nouveau-Brunswick, Canada. Nos objectifs consistaient à analyser les différences entre les arbres résiduels qui ont survécu et ceux qui ont été éliminés par le chablis et à quantifier la reprise de croissance. Le traitement reproduisait la récolte de la mortalité estimée due à une épidémie de la tordeuse des bourgeons de l'épinette : 90 % des tiges matures de sapin baumier (Abies balsamea (L.) Mill.), 60 % des tiges matures d'épicéa (Picea spp.) et aucune tige feuillue. Le chablis a augmenté avec la proportion d'arbres récoltés et a atteint en moyenne 52 % sur 7 à 9 ans dans les peuplements avec une forte proportion de sapin et d'épicéa. Le chablis a dépassé 30 % dans le tiers des 42 parcelles récoltées tandis qu'il était inférieur à 10 % dans 73 % des 11 parcelles non récoltées. Le chablis a davantage frappé le sapin baumier que l'épicéa atteignant respectivement 53 % et 41 %. Les tiges de sapin baumier renversées par le vent avaient une hauteur et un dhp significat...