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Approach to Massive Bleeding in Obstetrics: Changing Management Paradigms Oriented by Early Goals [Early Goal Therapy in Postpartum Hemorrhage]

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Open Journal of Obstetrics and Gynecology 2021年第4期11卷 369-380页

作者： Sandra Ximena Olaya-Garay Juan david Hernandez david ricardo murillo-garcia Manuel Andrés Garay-Fernández Obstetrics Gynecology and Critical Care Universidad de Manizales Manizales Colombia Critical Care E.S.E. Hospital Universitario San Jorge Pereira Colombia The Jewish Hospital Cincinnati OH USA Pulmonary and Critical Care Hospital Santa Clara Bogotá D.C. Colombia

Recent findings: Approximately 830 women die every day worldwide as a result of complications related to pregnancy or childbirth with obstetric hemorrhage that remains a major cause of maternal morbidity and mortality. A systematic analysis by the World Health Organization [WHO] on the global causes of maternal deaths from 2003 to 2009 found that bleeding was the leading direct cause of maternal mortality followed by hypertensive disorders and sepsis. Overall, bleeding accounted for 27.1% of all maternal deaths worldwide. The need to implement strategies that mitigate the impact of bleeding in this clinical scenario is increasingly growing. Purpose of review: The purpose of this review is to propose a management strategy based on goals established through dynamic coagulation assessment. Summary: Effective management of obstetric hemorrhage requires rapid recognition, rapid response and mobilization of the multidisciplinary team. Volumetric resuscitation, hemodynamic stability, as well as the simultaneous identification and treatment of the source of bleeding and the resolution of coagulopathy in the shortest possible time remain the cornerstones of the management of Postpartum Hemorrhage (PPH).

关键词： Bleeding Coagulopathy Postpartum Fibrinogen

Induced pluripotent stem cells from Huntington's disease patients:a promising approach to define and correct disease-related alterations

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Neural Regeneration Research 2019年第5期14卷 769-770页

作者： Azra Fatima ricardo Gutiérrez-garcia david Vilchez Institute for Genetics and Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases(CECAD) University of Cologne

Adult somatic cells such as skin or blood cells from either health donors or patients can be reprogrammed into induced pluripotent stem cells(iPSCs).Given their unlimited self-renewal and differentiation capacities,iPSCs are an invaluable resource to generate terminally differentiated ***,iPSCs can facilitate the study of human diseases and drug screening,holding great promise for regenerative *** significant advantage of iPSC disease-modeling is that normal and mutant proteins are expressed at endogenous *** addition,subtle phenotypes and the effects of genetic background variations can be assessed by comparison between iPSC lines obtained from different patients and healthy donors as well as isogenic lines,in which disease-related mutations are corrected.

关键词： Adult somatic cells skin or blood cells Huntington’s disease patients

Minimally invasive surgery and transsulcal parafascicular approach in the evacuation of intracerebral haemorrhage

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Stroke & Vascular Neurology 2020年第1期5卷 40-49页

作者： Lina Marenco-Hillembrand Paola Suarez-Meade Henry Ruiz garcia ricardo Murguia-Fuentes Erik H Middlebrooks Lindsey Kangas W david Freeman Kaisorn L Chaichana Neurological Surgery Mayo ClinicJacksonvilleFloridaUSA Radiology Neurological SurgeryMayo ClinicJacksonvilleFloridaUSA

Intracerebral haemorrhage(ICH)describes haemorrhage into the brain parenchyma that may result in a decline of the patient’s neurological *** is a common cause of morbidity and mortality *** surgical treatment for ICH has remained controversial as clinical trials have failed to demonstrate substantial improvement in patient outcome and ***,promising mechanical and pharmacological minimally invasive surgery(MIS)techniques for the treatment of ICH have been *** was designed with the objective of reducing morbidity due to complications of surgical *** MIS includes the use of tubular retractors and small diameter instruments for ICH *** methods consist of catheter placement inside the haematoma cavity for the passive drainage of the haematoma over the course of several *** of the most favourable approaches for MIS is the use of natural corridors for reaching the lesion,such as the transsulcal parafascicular *** approach provides an anatomical dissection of the subjacent white matter tracts,causing the least amount of damage while evacuating the haematoma.A detailed description of the currently known MIS techniques and devices is presented in this *** attention is given to the transsulcal parafascicular approach,which has particular benefits to provide a less traumatic MIS with promising overall patient outcome.

关键词： approach surgery cavity

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

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Open Journal of Genetics 2018年第4期8卷 91-100页

作者： Filipa Ferreira Ines Leal david Sousa Teresa Costa Conceicao Mota Ana Marta Gomes Daniela Lopes Maria do Carmo Macario Isabel Tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona Sonia Ramos Raquel Neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de Nefrologia do Hospital garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion