scholarly journals Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

2014 ◽  
Vol 34 (12) ◽  
pp. 951-953 ◽  
Author(s):  
J Malý ◽  
M Navrátilová ◽  
H Hornychová ◽  
A C Looman
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Compound Heterozygous ◽  
Term Newborn

scholarly journals A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report

2020 ◽  
Vol 11 ◽  
Author(s):  
Martin Jouza ◽  
Tomas Jimramovsky ◽  
Eva Sloukova ◽  
Jakub Pecl ◽  
Anna Seehofnerova ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Full Term ◽  
Term Newborn

scholarly journals Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report

2010 ◽  
Vol 31 (1) ◽  
pp. 70-72 ◽  
Author(s):  
M Ciantelli ◽  
P Ghirri ◽  
S Presi ◽  
E Sigali ◽  
M Vuerich ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Gene Mutations ◽  
Full Term ◽  
Term Newborn

Case Report: Hemoptysis localization – hearing with your eyes

POCUS Journal ◽  
2016 ◽  
Vol 1 (2) ◽  
pp. 7
Author(s):  
Barry Chan, MD
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Hemodynamic Instability ◽  
Clinical Vignette ◽  
Massive Hemoptysis ◽  
Airway Patency ◽  
Peripheral Site ◽  
Adventitious Sound

Clinical Vignette: 45 year old was transferred from a peripheral facility for acute massive hemoptysis though maintained sufficient airway patency with no evidence of hemodynamic instability or respiratory failure. Thoracic auscultation revealed vesicular breathing with no adventitious sound. CXR from the peripheral site was normal.

scholarly journals Asymptomatic mediastinal extra-adrenal paraganglioma as a cause of sudden death: a case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 564-567
Author(s):  
Qiancheng Xu ◽  
Yingya Cao ◽  
Hongzhen Yin ◽  
Rongrong Wu ◽  
Tao Yu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
Respiratory Failure ◽  
Pressure Drop ◽  
Thoracic Cavity ◽  
Severe Hypotension ◽  
Life Threatening ◽  
History Of ◽  
Posterior Mediastinal ◽  
Extra Adrenal Paraganglioma

AbstractA 23-year-old female patient was referred for treatment of a posterior mediastinal tumour. There was no history of hypertension or headache and no other complaints. The patient’s blood pressure increased to 210/125 mmHg after surgically manipulating the tumour, subsequently reversing to severe hypotension (25/15 mmHg) immediately after the tumour was removed. The life-threatening and irreversible blood pressure drop was difficult to treat with fluid and vasopressors, and the patient ultimately died of cardio-respiratory failure. Asymptomatic paraganglioma can be non-functional but can also be fatal. For any lump in the thoracic cavity, paraganglioma should be ruled out.

scholarly journals Early Lethal Noncompaction Cardiomyopathy in siblings with compound heterozygous RYR2 variants: A Case Report

2021 ◽  
Author(s):  
Jantiene C. Duvekot ◽  
Annette F. Baas ◽  
Catharina M.L. Volker-Touw ◽  
Hennie Bikker ◽  
Christian Schroer ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Noncompaction Cardiomyopathy

scholarly journals Prolonged respiratory failure due to pulmonary embolism in a young woman: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Daniel Tuchscherer ◽  
Alexa Hollinger ◽  
Jens Bremerich ◽  
Martin Siegemund
Keyword(s):  
Pulmonary Embolism ◽  
Case Report ◽  
Respiratory Failure ◽  
Young Woman

scholarly journals Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

2015 ◽  
Vol 14 (2) ◽  
pp. 4757-4766 ◽  
Author(s):  
D.H. Cao ◽  
K. Mu ◽  
D.N. Liu ◽  
J.L. Sun ◽  
X.Z. Bai ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Compound Heterozygous
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