CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia

This study was supported by the Fundação para a Ciência e a Tecnologia (PTDC/BEXBID/1411/ 2014 research grant). S.S. Lopes was funded by FCT Investigator IF/00951/2012, by NOVA Medical School and by FCT CEEC-IND 2018. P. Sampaio was funded by the PhD fellowship FCT: SFRH/BD/111611/2015. M. Roxo-Rosa was funded by the UID/Multi/04462/2013-LISBOA-01-0145-FEDER-007344 grant (iNOVA4Health). C.M. Quintão was funded by Fundação para a Ciência e Tecnologia (UID/FIS/04559/2013). S.S. Lopes participates in and acknowledge financial support from the COST Action BEAT-PCD (BM1407). S.S. Lopes received funding from project LysoCil funded by the European Union Horizon 2020 research and innovation under grant agreement No 811087. Funding information for this article has been deposited with the Crossref Funder Registry.Evaluation of ciliary beat frequency (CBF) performed by high-speed videomicroscopy analysis (HVMA) is one of the techniques required for the correct diagnosis of primary ciliary dyskinesia (PCD). Currently, due to lack of open-source software, this technique is widely performed by visually counting the ciliary beatings per a given time-window. Our aim was to generate open-source, fast and intuitive software for evaluating CBF, validated in Portuguese PCD patients and healthy volunteers. Nasal brushings collected from 17 adult healthy volunteers and 34 PCD-referred subjects were recorded using HVMA. Evaluation of CBF was compared by two different methodologies: the new semi-automated computer software CiliarMove and the manual observation method using slow-motion movies. Clinical history, nasal nitric oxide and transmission electron microscopy were performed for diagnosis of PCD in the patient group. Genetic analysis was performed in a subset (n=8) of suspected PCD patients. The correlation coefficient between the two methods was R-2=0.9895. The interval of CBF values obtained from the healthy control group (n=17) was 6.18-9.17 Hz at 25 degrees C. In the PCD-excluded group (n=16), CBF ranged from 6.84 to 10.93 Hz and in the PCD group (n=18), CBF ranged from 0 to 14.30 Hz. We offer an automated open-source programme named CiliarMove, validated by the manual observation method in a healthy volunteer control group, a PCD-excluded group and a PCD-confirmed group. In our hands, comparisons between CBF intervals alone could discern between healthy and PCD groups in 78% of the cases.publishersversionpublishe

Efeito Agudo da Pressao Positiva Continua sobre a Pressao de Pulso na Insuficiencia Cardiaca Cronica

Fundamento: Pacientes com insufici&#234;ncia card&#237;aca (IC) apresentam disfun&#231;&#227;o ventricular esquerda e redu&#231;&#227;o da press&#227;o arterial m&#233;dia (PAM). O aumento do est&#237;mulo adren&#233;rgico causa vasoconstri&#231;&#227;o e resist&#234;ncia dos vasos, mantendo a PAM, enquanto aumenta a resist&#234;ncia vascular perif&#233;rica e a rigidez dos vasos condutores. O aumento da press&#227;o de pulso (PP) reflete a complexa intera&#231;&#227;o do cora&#231;&#227;o com os sistemas arteriais e venosos. O aumento da PP &#233; um importante marcador de risco em pacientes com insufici&#234;ncia card&#237;aca cr&#244;nica (ICC). A ventila&#231;&#227;o n&#227;o invasiva (VNI) tem sido utilizada para IC aguda descompensada para melhorar a congest&#227;o e a ventila&#231;&#227;o pelos efeitos respirat&#243;rios e hemodin&#226;micos. No entanto, nenhum desses estudos relatou o efeito da VNI na PP. Objetivo: O objetivo deste estudo foi determinar os efeitos agudos da VNI com CPAP (press&#227;o positiva cont&#237;nua nas vias a&#233;reas) sobre a PP em pacientes ambulatoriais com ICC. M&#233;todos: Seguindo um protocolo randomizado, duplo-cego, cruzado e controlado com placebo, 23 pacientes com ICC (17 homens, 60 &#177; 11 anos, IMC 29 &#177; 5 kg/cm2, classes II e III da NYHA) foram submetidos &#224; CPAP via m&#225;scara nasal durante 30 minutos na posi&#231;&#227;o reclinada. A press&#227;o da m&#225;scara foi de 6 cmH2O, enquanto o placebo foi fixado em 0-1 cmH2O. PP e outras vari&#225;veis hemodin&#226;micas n&#227;o invasivas foram avaliadas antes, durante e depois do placebo e do modo CPAP. Resultados: A CPAP diminuiu a frequ&#234;ncia card&#237;aca de repouso (pr&#233;: 72 &#177; 9; p&#243;s 5 min: 67 &#177; 10 bpm , p < 0,01) e PAM (CPAP: 87 &#177; 11; controle 96 &#177; 11 mmHg , p < 0,05 p&#243;s 5 min). A CPAP diminuiu a PP (CPAP: 47 &#177; 20 pr&#233; para 38 &#177; 19 mmHg p&#243;s; controle: 42 &#177; 12 mmHg, pr&#233; para 41 &#177; 18 p&#243;s p < 0,05 p&#243;s 5 min). Conclus&#227;o: A VNI com CPAP diminuiu a press&#227;o de pulso em pacientes com ICC est&#225;vel. Ensaios cl&#237;nicos futuros devem investigar se esse efeito est&#225; associado com melhora no desfecho cl&#237;nico