Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventilation, and the remaining presenting with variable pulmonary phenotypes, including one individual without any obvious pulmonary manifestations. Our findings widen the phenotype spectrum caused by the recurrent pathogenic variant in ERF, underline Chitayat syndrome as a cause of isolated skeletal malformations and therefore contribute to the improvement of diagnostic strategies in individuals with hand hyperphalangism

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to potentially devastating consequences in case of rupture. On the other hand, detection and treatment related-risks are not negligible, and immediate. While successful treatment can be undertaken in individual cases, current data do not support the treatment of unruptured AVMs, which also present a low risk of bleeding in HHT patients. Screening for these AVMs is therefore controversial. Structured discussions, distinctions of different cerebrovascular abnormalities commonly grouped into an "AVM"bracket, and clear guidance by neurosurgical and neurointerventional radiology colleagues enabled the European Reference Network for Rare Vascular Disorders (VASCERN-HHT) to develop the following agreed Position Statement on cerebral screening: 1) First, we emphasise that neurological symptoms suggestive of cerebral AVMs in HHT patients should be investigated as in general neurological and emergency care practice. Similarly, if an AVM is found accidentally, management approaches should rely on expert discussions on a case-by-case basis and individual risk-benefit evaluation of all therapeutic possibilities for a specific lesion. 2) The current evidence base does not favour the treatment of unruptured cerebral AVMs, and therefore cannot be used to support widespread screening of asymptomatic HHT patients. 3) Individual situations encompass a wide range of personal, cultural and clinical states. In order to enable informed patient choice, and avoid conflicting advice, particularly arising from non-neurovascular interpretations of the evidence base, we suggest that all HHT patients should have the opportunity to discuss knowingly brain screening issues with their healthcare provider. 4) Any screening discussions in asymptomatic individuals should be preceded by informed pre-test review of the latest evidence regarding preventative and therapeutic efficacies of any interventions. The possibility of harm due to detection of, or intervention on, a vascular malformation that would not have necessarily caused any consequence in later life should be stated explicitly. We consider this nuanced Position Statement provides a helpful, evidence-based framework for informed discussions between healthcare providers and patients in an emotionally charged area

Differentiation in morphology and electrical signalling in four species of para- and sympatric Marcusenius (Teleostei: Mormyridae) from Côte d’Ivoire, West Africa

Marcusenius Gill, 1862 species were sampled from the Bandama River and the Comoé River in Côte d’Ivoire, West Africa. Marcusenius gracilis sp. nov. was differentiated from M. senegalensis (Steindachner, 1870), Marcusenius ussheri (Günther, 1867) and M. furcidens (Pellegrin, 1920) in electric organ discharges (EOD), and morphologically from all other West African congeners. Principal component analysis showed significant morphological differentiation among the four Ivorian species. Principal component 1 was loaded most strongly by characters affecting swimming power and manoeuvrability. The morphologically most similar pair, M. furcidens and M. gracilis sp. nov., are distinguished by their EOD waveforms and a sexual dimorphism in the anal fin base in the latter not present in the former. M. ussheri is distinguished by a sexual dimorphism in its EOD waveform not observed in the other three species. This system is an opportunity to study how far the fine-tuning of character displacement among syntopic species can go

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

none28siHereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to potentially devastating consequences in case of rupture. On the other hand, detection and treatment related-risks are not negligible, and immediate. While successful treatment can be undertaken in individual cases, current data do not support the treatment of unruptured AVMs, which also present a low risk of bleeding in HHT patients. Screening for these AVMs is therefore controversial. Structured discussions, distinctions of different cerebrovascular abnormalities commonly grouped into an "AVM"bracket, and clear guidance by neurosurgical and neurointerventional radiology colleagues enabled the European Reference Network for Rare Vascular Disorders (VASCERN-HHT) to develop the following agreed Position Statement on cerebral screening: 1) First, we emphasise that neurological symptoms suggestive of cerebral AVMs in HHT patients should be investigated as in general neurological and emergency care practice. Similarly, if an AVM is found accidentally, management approaches should rely on expert discussions on a case-by-case basis and individual risk-benefit evaluation of all therapeutic possibilities for a specific lesion. 2) The current evidence base does not favour the treatment of unruptured cerebral AVMs, and therefore cannot be used to support widespread screening of asymptomatic HHT patients. 3) Individual situations encompass a wide range of personal, cultural and clinical states. In order to enable informed patient choice, and avoid conflicting advice, particularly arising from non-neurovascular interpretations of the evidence base, we suggest that all HHT patients should have the opportunity to discuss knowingly brain screening issues with their healthcare provider. 4) Any screening discussions in asymptomatic individuals should be preceded by informed pre-test review of the latest evidence regarding preventative and therapeutic efficacies of any interventions. The possibility of harm due to detection of, or intervention on, a vascular malformation that would not have necessarily caused any consequence in later life should be stated explicitly. We consider this nuanced Position Statement provides a helpful, evidence-based framework for informed discussions between healthcare providers and patients in an emotionally charged area.noneEker O.F.; Boccardi E.; Sure U.; Patel M.C.; Alicante S.; Alsafi A.; Coote N.; Droege F.; Dupuis O.; Fialla A.D.; Jones B.; Kariholu U.; Kjeldsen A.D.; Lefroy D.; Lenato G.M.; Mager H.J.; Manfredi G.; Nielsen T.H.; Pagella F.; Post M.C.; Rennie C.; Sabba C.; Suppressa P.; Toerring P.M.; Ugolini S.; Buscarini E.; Dupuis-Girod S.; Shovlin C.L.Eker, O. F.; Boccardi, E.; Sure, U.; Patel, M. C.; Alicante, S.; Alsafi, A.; Coote, N.; Droege, F.; Dupuis, O.; Fialla, A. D.; Jones, B.; Kariholu, U.; Kjeldsen, A. D.; Lefroy, D.; Lenato, G. M.; Mager, H. J.; Manfredi, G.; Nielsen, T. H.; Pagella, F.; Post, M. C.; Rennie, C.; Sabba, C.; Suppressa, P.; Toerring, P. M.; Ugolini, S.; Buscarini, E.; Dupuis-Girod, S.; Shovlin, C. L

A theoretical study of the gas-phase chemiionization reactions La+O and La+O2

The La + O and La + O2 chemiionization reactions have been investigated with quantum chemical methods. For La + O2(X3?g) and La + O2(a1?g), the chemiionization reaction La + O2 ? LaO2+ + e? has been shown to be endothermic and does not contribute to the experimental chemielectron spectra. For the La + O2(X3?g) reaction conditions, chemielectrons are produced by La + O2 ? LaO + O, followed by La + O ? LaO+ + e?. This is supported by the same chemielectron band, arising from La + O ? LaO+ + e?, being observed from both the La + O(3P) and La + O2(X3?g) reaction conditions. For La + O2(a1?g), a chemielectron band with higher electron kinetic energy than that obtained from La + O2(X3?g) is observed. This is attributed to production of O(1D) from the reaction La + O2(a1?g) ? LaO + O(1D), followed by chemiionization via the reaction La + O(1D) ? LaO+ + e?. Potential energy curves are computed for a number of states of LaO, LaO* and LaO+ to establish mechanisms for the observed La + O ? LaO+ + e? chemiionization reactions