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Alpha 1 antitrypsin deficiency

Manuela Brisot Felisbino, Frederico Leon Arrabal Fernandes, Maria Cecília Nieves Maiorano de Nucci, Regina Maria de Carvalho Pinto, Emilio Pizzichini, Alberto Cukier
OBJECTIVE: The clinical, functional, radiological and genotypic descriptions of patients with an alpha-1 antitrypsin (A1AT) gene mutation in a referral center for COPD in Brazil. METHODS: A cross-sectional study of patients with an A1AT gene mutation compatible with deficiency. We evaluated the A1AT dosage and genotypic, demographic, clinical, tomographic, and functional characteristics of these patients. RESULTS: Among the 43 patients suspected of A1AT deficiency (A1ATD), the disease was confirmed by genotyping in 27 of them...
September 2018: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
Thomas Amann, Anders Holmgaard Hansen, Stefan Kol, Henning Gram Hansen, Johnny Arnsdorf, Saranya Nallapareddy, Bjørn Voldborg, Gyun Min Lee, Mikael Rørdam Andersen, Helene Faustrup Kildegaard
Recombinant Chinese hamster ovary (CHO) cells are able to provide biopharmaceuticals that are essentially free of human viruses and have N-glycosylation profiles similar, but not identical, to humans. Due to differences in N-glycan moieties, two members of the serpin superfamily, alpha-1-antitrypsin (A1AT) and plasma protease C1 inhibitor (C1INH), are currently derived from human plasma for treating A1AT and C1INH deficiency. Deriving therapeutic proteins from human plasma is generally a cost-intensive process and also harbors a risk of transmitting infectious particles...
December 1, 2018: Metabolic Engineering
Behrouz Mostafavi, Sandra Diaz, Eeva Piitulainen, Berend C Stoel, Per Wollmer, Hanan A Tanash
Background: Alpha-1-antitrypsin (AAT) deficiency is a hereditary disorder that predisposes to emphysema. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening program in 1972-1974 and has been followed-up since birth. Our aim was to study whether the cohort has signs of emphysema in pulmonary function tests (PFTs) and computed tomography (CT) densitometry at 38 years of age in comparison with an age-matched control group, randomly selected from the population registry...
2018: International Journal of Chronic Obstructive Pulmonary Disease
Faisal Inayat, Waqas Ullah, Hanan T Lodhi, Zarak H Khan, Ghulam Ilyas, Nouman Safdar Ali, Hafez Mohammad A Abdullah
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with elevated liver enzymes. Neurological examination was unremarkable. The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive...
August 24, 2018: Curēus
A P Lopes, M A Mineiro, F Costa, J Gomes, C Santos, C Antunes, D Maia, R Melo, M Canotilho, E Magalhães, I Vicente, C Valente, B G Gonçalves, B Conde, C Guimarães, C Sousa, J Amado, M E Brandão, M Sucena, M J Oliveira, S Seixas, V Teixeira, L Telo
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD...
December 2018: Pulmonology
Jeanne Marie Perotin, Sylvie Leroy, Charles Hugo Marquette, Hervé Mal, Hervé Dutau, Arnaud Bourdin, Jean Michel Vergnon, Christophe Pison, Coralie Barbe, Gaëtan Deslee
Endobronchial coil treatment (ECT) is a minimally invasive procedure developed for palliative care of patients with severe emphysema. ECT has demonstrated a decrease in hyperinflation, an improvement in quality of life, and an acceptable safety profile in randomized controlled trials (RCTs). Because alpha-1 antitrypsin deficiency (AATD) is a classical exclusion criterion in RCTs, there is no available data for ECT in AATD. In this post hoc analysis of the REVOLENS study (Réduction volumique endobronchique par spirales; ClinicalTrials...
2018: International Journal of Chronic Obstructive Pulmonary Disease
M Odish, M Chen, A Kim, T Floreth
This case report describes a patient who acquired a donor peanut allergy after lung transplantation. A 53-year-old woman with alpha-1 antitrypsin deficiency underwent left-sided lung transplant from a donor with a history of anaphylaxis to peanut. Two weeks after the transplant, the patient developed acute respiratory failure immediately after consuming a peanut butter and jelly sandwich. The donor's serum confirmed high titers of peanut-specific immunoglobulin E (IgE). The recipient patient had never had allergies to peanuts or other nuts before her transplant...
August 9, 2018: Transplantation Proceedings
Kuniaki Seyama, Toshihiro Nukiwa, Tadashi Sato, Masaru Suzuki, Satoshi Konno, Kazuhisa Takahashi, Masaharu Nishimura, Kimberly Steinmann, Susan Sorrells, Junliang Chen, Ken-Ichi Hayashi
BACKGROUND: Alpha1 -Proteinase Inhibitor, Modified Process (Alpha-1 MP) is used for augmentation therapy in alpha1-antitrypsin deficiency (AATD), an extremely rare disease in Japan. Weekly doses of 60 mg/kg Alpha-1 MP have been shown to be safe and well tolerated in non-Japanese subjects, but the safety and pharmacokinetics (PK) have not been evaluated in Japanese subjects. The objectives of this study were to evaluate the safety and PK of 60 mg/kg Alpha-1 MP administered by weekly IV infusions over 8 weeks in Japanese subjects with AATD...
November 8, 2018: Respiratory Investigation
I Suárez-Lorenzo, F Rodríguez de Castro, D Cruz-Niesvaara, E Herrera-Ramos, C Rodríguez-Gallego, T Carrillo-Diaz
Background and objective: Severe alpha1 antitrypsin deficiency has been clearly associated with pulmonary emphysema, but its relationship with bronchial asthma remains controversial. Some deficient alpha 1 antitrypsin (AAT) genotypes seem to be associated with asthma development. The objective of this study was to analyze the distribution of AAT genotypes in asthmatic patients allergic to house dust mites (HDM), and to asses a possible association between these genotypes and severe asthma...
2018: Clinical and Translational Allergy
José María Hernández Pérez, José Antonio Pérez Pérez
No abstract text is available yet for this article.
November 5, 2018: Archivos de Bronconeumología
James J Tasch, Ann T McLaughlan, Asad A Nasir
Chronic obstructive pulmonary disease (COPD) currently affects more than 16 million Americans and it is estimated that roughly 100,000 Americans have undiagnosed, severe alpha-1 antitrypsin deficiency (AATD) ( Chest . 2005;128[3]:1179-1186) ( Chest . 2002;122[5]:1818-1829). Patients with AATD have an accelerated rate of decline of lung function caused by proteolytic enzymes. The morbidity associated with this inherited disorder is preventable due to the availability of augmentation therapy. Appropriate inpatient screening of patients with COPD for AATD is lacking and most screening is exclusively limited to outpatient pulmonary clinics...
April 1, 2018: Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation
Michelle C Nguyen, Sylvester Black, Ken Washburn, Ashraf El-Hinnawi
INTRODUCTION: En bloc liver-kidney transplantation can be difficult with renal artery variations for which the risk of multiple anastomoses can outweigh the benefits. PRESENTATION OF CASE: This report is the first to describe an en bloc liver-kidney transplantation using a donor kidney with double renal arteries. The indication for a combined liver-kidney transplant was non-alcoholic steatohepatitis (NASH) cirrhosis with chronic kidney disease secondary to hypertension and diabetes compounded by hepato-renal syndrome...
October 8, 2018: International Journal of Surgery Case Reports
Martin Zamora
BACKGROUND: Alpha 1 Antitrypsin Deficiency (AATD) is a genetic cause of emphysema/chronic obstructive pulmonary disease (COPD) and liver disease, making AATD patients a high-risk surgical group. Additionally, patients may eventually require lung and/or liver transplantation or lung volume reduction surgery (LVRS). This narrative review discusses perioperative considerations for elective procedures in AATD patients, and reviews patient outcomes in AATD-related transplantation and LVRS...
October 17, 2018: American Journal of Surgery
Wei Zhu, Lanfen Li, Mingjing Deng, Bo Wang, Mengfei Li, Guofang Ding, Zuisu Yang, Dan Medynski, Xiaotao Lin, Ying Ouyang, Jirui Lin, Luyuan Li, Xinli Lin
Native α1-antitrypsin (AAT) is a 52-kDa glycoprotein that acts as an antiprotease and is the physiological inhibitor of neutrophil serine proteases. The main function of AAT is to protect the lung from proteolytic damage induced by inflammation. AAT deficiency (AATD) is a codominant autosomal disorder caused by pathogenic mutations in SERPINA1 gene, leading to reduced levels of serum AAT. The deficiency is known to increase the risk of pulmonary emphysema and chronic obstructive pulmonary disease as a consequence of proteolytic imbalance induced by inflammation, associated in many instances with cigarette smoking and other environmental hazards...
October 2018: FEBS Open Bio
Andrea Gramegna, Stefano Aliberti, Marco Confalonieri, Angelo Corsico, Luca Richeldi, Carlo Vancheri, Francesco Blasi
Background: The European Respiratory Society recently published an important statement reviewing available evidence on diagnosis and treatment of lung disease associated to alpha-1 antitrypsin deficiency (AATD). Several issues on this topic still remain unresolved and subject of interpretation according to different standard procedures and healthcare systems worldwide. The purpose of this commentary is to offer a critical contribution to most of these controversial issues in light of an Italian perspective for the management of this disease...
2018: Multidisciplinary Respiratory Medicine
Pius Ochieng, Sridesh Nath, Reane Macarulay, Edward Eden, Abdoulaye Dabo, Michael Campos, Xian-Cheng Jiang, Robert F Foronjy, Patrick Geraghty
Excessive neutrophil degranulation is a common feature of many inflammatory disorders, including alpha-1 antitrypsin (AAT) deficiency. Our group has demonstrated that phospholipid transfer protein (PLTP) prevents neutrophil degranulation but serine proteases, which AAT inhibits, cleave PLTP in diseased airways. We propose to identify if airway PLTP activity can be restored by AAT augmentation therapy and how PLTP subdues degranulation of neutrophils in AAT deficient subjects. Airway PLTP activity was lower in AAT deficient patients but elevated in the airways of patients on augmentation therapy...
October 18, 2018: Scientific Reports
Minsun Kim, Qing Cai, Youngman Oh
Alpha-1 antitrypsin (AAT), an alpha globulin glycoprotein, is a member of the serine protease inhibitor (serpin) superfamily. The clinical significance of AAT is highlighted by AAT deficiency. Genetic deficiency of AAT can present as several neutrophilic diseases associated with emphysema, liver cirrhosis, panniculitis, and systemic vasculitis. Recently, animal and human studies have shown that AAT can control inflammatory, immunological, and tissue-protective responses. In addition, AAT treatment can prevent overt hyperglycemia, increase insulin secretion, and reduce cytokine-mediated apoptosis of pancreatic β-cells in diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
Catherine A Chapin, Lee M Bass
Cirrhosis is a complex process in which the architecture of the liver is replaced by structurally abnormal nodules due to cirrhosis. Cirrhosis frequently leads to the development of portal hypertension. In children, portal hypertension may be caused by a wide range of etiologies, including extrahepatic portal vein obstruction, biliary atresia, alpha 1 antitrypsin deficiency, and autoimmune hepatitis. Gastroesophageal varices and ascites are two of the complications of portal hypertension likely to cause morbidity and mortality...
November 2018: Clinics in Liver Disease
Dhiren Patel, Jeffrey H Teckman
In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency, the liver synthesizes large quantities of AAT mutant Z, which folds improperly during biogenesis and is retained within the hepatocytes and directed into intracellular proteolysis pathways. These intracellular polymers trigger an injury cascade, which can lead to liver injury. This is highly variable and not all patients develop liver disease. Although not fully described, there is likely a strong influence of genetic and environmental modifiers of the injury cascade and of the fibrotic response...
November 2018: Clinics in Liver Disease
Kristen E Holm, David M Mannino, Radmila Choate, Robert A Sandhaus
OBJECTIVE: To examine the association of genotype with smoking and other key health behaviors among individuals with alpha-1 antitrypsin deficiency (AATD) associated lung disease. METHODS: Self-reported data were analyzed from 3506 individuals with AATD-associated lung disease. All data were collected upon enrollment in a disease management program designed for individuals who have been prescribed augmentation therapy. Multivariate logistic regression was utilized to examine the extent to which genotype was associated with smoking and other key health behaviors (i...
October 2018: Respiratory Medicine
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