Is this the right test?

My dr ordered a genetic test it says Cystic fibrosis DNA mutation analysis with reflex to polymorphisms. Is this the appropriate test to check for milder mutations? And does it test for all the mutations?
Source: Cystic Fibrosis CFTR Modulation and Gene Therapy Forum - Category: Respiratory Medicine Authors: Tags: CFTR Modulation and Gene Therapy Talk Source Type: forums

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ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Gastro-oesophageal reflux disease (GORD) and obesity are associated with frequent exacerbations and poor quality of life in people living with asthma. Multiple mechanisms have been proposed for the effect of obesity, including modification of inflammation affecting epithelial cell proliferation and wound repair, while the role of GORD is poorly understood and proton pump inhibitors (PPIs) are of variable efficacy. GORD might exert a deleterious effect by inducing vagal reflex, neuroinflammation and directly triggering airway inflammation (via microaspiration). Studies of reflux in animal models and human bronchial epitheli...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Original Articles: Research letters Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Orals Sessions Source Type: research
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Authors: Skoczyński S, Minarowski Ł, Tobiczyk E, Oraczewska A, Glinka K, Ficek K, Mróz R, Barczyk A Abstract Respiratory failure is one of the most important risk factors for diagnostic bronchofiberoscopy (BF), whereas therapeutic bronchoscopies are typically performed in intubated patients. Only a few published studies analyzed the outcomes of noninvasive mechanical ventilation (NIV)-facilitated BF. In this case series, we present our experiences with NIV-facilitated diagnostic and therapeutic BF performed in patients with respiratory failure that was associated with acute interstitial pulmonary disease, ...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
AbstractPurpose of ReviewCough becomes a pathologic reflex when the airways are inflamed and overwhelmed with excessive mucus. The goal of this review is to discuss acute and chronic cough syndromes caused by non-asthmatic airway diseases.Recent FindingsAcute cough syndrome is short-lived and self-limited. Acute bronchitis and diffuse acute infectious bronchiolitis (DAIB) are examples. The former is usually caused by a viral illness; the latter byMycoplasma pneumoniae, influenza, andHaemophilus influenzae. Causes of chronic cough in the adult include chronic bronchitis, non-infectious bronchiolitis, and non-cystic fibrosis...
Source: Current Otorhinolaryngology Reports - Category: ENT & OMF Source Type: research
In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research
A Chinese scientist shocked the scientific community a couple of days ago with the announcement of having modified the very blueprint of life. If his claims are true, he tried to bestow two baby girls the ability to resist possible future infections with HIV. The outrage shows that humanity is not prepared to utilize the power of gene editing on embryos yet. We have no idea about the biological consequences, and we haven’t tackled the necessary legal and ethical issues. Genes to become toys of the “Gods”? Humanity has come a long way since Aldous Huxley pinned down how methods of genetic engineering, bio...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Future of Medicine Genomics designer babies designer baby Gene gene editing genes Genome genome sequencing Health Healthcare healthcare system Innovation technology Source Type: blogs
Conclusion: In childhood age group, pulmonary emboli should be considered as a differential diagnosis of acute chest pain and diagnostic examinations should be planned.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric bronchology Source Type: research
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