Results 11 to 20 of about 17,077 (138)

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum. [PDF]

Clin Genet
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Miranda-Alcaraz L, Carbonera S, Mora-Gómez M, Gallego-Zazo N, Guillén I, Padilla E, Visani G, Asaro A, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Silván C, Arias P, Jiménez-Estrada JA, Valle T, Cruz-Utrilla A, Escribano-Subías P, Parra NO, Del Cerro Marín MJ, Nevado J, Spanish PAH Consortium, Lapunzina P, Sirchia F, Tenorio-Castano J.   +23 more
europepmc   +2 more sources

Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties

Diagnostics, 2021
Pulmonary veno-occlusive disease (PVOD) is a very infrequent form of pulmonary arterial hypertension with an aggressive clinical course, poor response to specific vasodilator treatment, and low survival.
Marta Pérez Núñez, Sergio Alonso Charterina, Carmen Pérez-Olivares, Yolanda Revilla Ostolaza, Rafael Morales Ruiz, Ana Belén Enguita Valls, Jair Antonio Tenorio, Natalia Gallego Zazo, Alicia De Pablo Gafas, Pablo Lapunzina, Adriana Rodríguez Chaverri, Pilar Escribano Subías   +11 more
doaj   +1 more source

Dissociação clinicorradiológica em lactente com tuberculose pulmonar: relato de caso [PDF]

Residência Pediátrica
Pulmonary tuberculosis (TB) is a preventable treatable and infectious disease caused by Mycobacterium tuberculosis (Mtb). The infection occurs through the inhalation of droplets expelled by an individual with the active disease. Most cases develop latent
Débora Elisabeth Sales Vieira, Rafael José Souza Filho, Rebecca da Silva Sales Vieira, Ana Carolina Gonçalves Galeano Arco, Juliènne Martins Araújo, Clarissa Netto dos Reys Laia Franco Prillwitz, Christiane Mello Schmidt, Claudete Araújo Cardoso   +7 more
doaj   +1 more source

Enfermedad pulmonar intersticial asociada a vasculitis sistémica ANCA positiva. Monografía 2018

Revista Argentina de Reumatología, 2018
Las vasculitis sistémicas son un grupo heterogéneo de enfermedades poco frecuentes que cursan con inflamación de los vasos sanguíneos y que pueden afectar potencialmente cualquier órgano y sistema del cuerpo.
Nicolás Martín Lloves Schenone
doaj   +1 more source

Criptococose pulmonar isolada em paciente imunocompetente Isolated pulmonary cryptococcosis in an immunocompetent patient

Jornal Brasileiro de Pneumologia, 2006
O presente trabalho relata um caso de criptococose pulmonar isolada em paciente com sintomas respiratórios, sem imunossupressão e sorologia negativa para o vírus da imunodeficiência humana, com massa pulmonar no radiograma de tórax.
Ana Teresa Fernandes Barbosa, Fernando Antônio Colares, Edson da Silva Gusmão, Amanda Araújo Barros, Cristiane Gonçalves Cordeiro, Maria Cecília Tolentino Andrade   +5 more
doaj   +1 more source

Visualización de edema pulmonar mediante ecografía en una paciente con preeclampsia

Revista Electrónica de AnestesiaR, 2015
La preeclampsia grave es un síndrome de afectación multiorgánica que generalmente se diagnostica por HTA de reciente comienzo y proteinuria en la segunda mitad del embarazo.
Sara López Palanca, Pablo Cuesta Montero   +1 more
doaj   +1 more source

El dilema de la anticoagulación en pacientes con fibrilación auricular y enfermedad renal crónica de grado 5

Revista Colombiana de Cardiología, 2022
No hay evidencia sólida acerca de la eficacia y la seguridad de la anticoagulación en pacientes con fibrilación auricular no valvular y enfermedad renal crónica de grado 5, porque esta población ha sido excluida de los grandes ensayos clínicos ...
Jairo A. Gándara-Ricardo, Elsy C. Sierra-Vargas, Maribel Plaza-Tenorio, Joaquín Rodelo-Ceballos   +3 more
doaj   +1 more source

Risk assessment validation in patients with pulmonary arterial hypertension: Data from a Southern Brazil registry (RESPHIRAR study)

Pulmonary Circulation, 2023
Pulmonary arterial hypertension (PAH) is a severe and progressive disease characterized by increased pulmonary vascular resistance, ultimately leading to right heart failure and death.
Fernanda Brum Spilimbergo, Roger Pirath Rodrigues, Marcelo Credidio Dias‐Pinto, Daniela Cavalet Blanco, Gláucia Maria Barbieri, Marina Andrade‐Lima, Ariovaldo Leal Fagundes, Marcelo Basso Gazzana, Gabriela Roncato, Marcelo Martins Mello, Guilherme Watte, Taís Silveira Assmann, Cássia Ferreira Braz Caurio, Rogerio Souza, Gisela Martina Bohns Meyer   +14 more
doaj   +1 more source

Analysis of the nursing diagnosis of [ineffective breathing pattern (00032)] in patients hospitalized with COVID‐19: A cross‐sectional study

International Journal of Nursing Knowledge, EarlyView.
Abstract Purpose To analyze the prevalence, accuracy of clinical indicators and related factors of the nursing diagnosis of ineffective breathing pattern (00032) in patients hospitalized due to COVID‐19. Methods This is a cross‐sectional study conducted in a public hospital, involving 250 adult hospitalizations between 2020 and 2021.
Caio Rodrigo Menezes dos Santos, Thiago de Jesus Santos, Andreia Centenaro Vaez, Damião da Conceição Araújo   +3 more
wiley   +1 more source

Partners in crime: The feedback loop between metabolic reprogramming and immune checkpoints in the tumor microenvironment

Frontiers in Oncology, 2023
The tumor microenvironment (TME) is a complex and constantly changing cellular system composed of heterogeneous populations of tumor cells and non-transformed stromal cells, such as stem cells, fibroblasts, endothelial cells, pericytes, adipocytes, and ...
Jesus J. Benito-Lopez, Jesus J. Benito-Lopez, Mario Marroquin-Muciño, Mario Marroquin-Muciño, Mario Perez-Medina, Mario Perez-Medina, Rodolfo Chavez-Dominguez, Rodolfo Chavez-Dominguez, Dolores Aguilar-Cazares, Miriam Galicia-Velasco, Jose S. Lopez-Gonzalez   +10 more
doaj   +1 more source