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Congenital lung disorder

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https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#1
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28718185/congenital-pulmonary-lymphangiectasia-a-disorder-not-only-of-fetoneonates
#2
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder of the lung, characterized by dilation of pulmonary subpleural, interlobar, perivascular and peribronchial lymphatics. The incidence of CPL among stillborn and neonates was estimated to be <1%. The etiology of CPL is unknown. However, it has been suspected to be of a genetic background. Recent basic studies revealed that it might be caused by the FOXC2, Vegfr-3 and integrin α9β1gene mutations. A clinical diagnosis of CPL can be made much easier in full-term neonates who present with respiratory distress, pleural (especially chylous) effusions with or without generalized edema...
July 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28690992/diabetes-mellitus-due-to-agenesis-of-the-dorsal-pancreas-in-a-patient-with-heterotaxy-syndrome
#3
Jo Eun Jung, Jin Ho Hur, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#4
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28651900/potential-clinical-applications-of-placental-stem-cells-for-use-in-fetal-therapy-of-birth-defects
#5
Melissa Vanover, Aijun Wang, Diana Farmer
Placental stem cells are of growing interest for a variety of clinical applications due to their multipotency and ready availability from otherwise frequently discarded biomaterial. Stem cells derived from the placenta have been investigated in a number of disease processes, including wound healing, ischemic heart disease, autoimmune disorders, and chronic lung or liver injury. Fetal intervention for structural congenital defects, such as spina bifida, has rapidly progressed as a field due to advances in maternal-fetal medicine and improving surgical techniques...
May 18, 2017: Placenta
https://www.readbyqxmd.com/read/28606676/burden-and-impact-of-congenital-syndromes-and-comorbidities-among-adults-with-congenital-heart-disease
#6
Isabelle Bracher, Maria Padrutt, Francesca Bonassin, Bruno Santos Lopes, Christiane Gruner, Simon F Stämpfli, Angela Oxenius, Gabriella De Pasquale, Theresa Seeliger, Thomas F Lüscher, Christine Attenhofer Jost, Matthias Greutmann
BACKGROUND: Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. METHODS: Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed...
August 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#7
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bouron-Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28535027/arsenite-binds-to-the-ring-finger-domain-of-fancl-e3-ubiquitin-ligase-and-inhibits-dna-interstrand-crosslink-repair
#8
Ji Jiang, Marina Bellani, Lin Li, Pengcheng Wang, Michael M Seidman, Yinsheng Wang
Human exposure to arsenic in drinking water is known to be associated with the development of bladder, lung, kidney, and skin cancers. The molecular mechanisms underlying the carcinogenic effects of arsenic species remain incompletely understood. DNA interstrand cross-links (ICLs) are among the most cytotoxic type of DNA lesions that block DNA replication and transcription, and these lesions can be induced by endogenous metabolism and by exposure to exogenous agents. Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair...
June 1, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28448861/congenital-unilateral-diaphragmatic-eventration-in-an-adult-a-rare-case-presentation
#9
Johann Paulo S Guzman, Nilo C Delos Santos, Edgar A Baltazar, Allan Troy D Baquir
We present a rare case of 32year old female with congenital diaphragmatic eventeration female presenting in an adult. She had symptoms of intermittent dyspnea and occasional epigastric discomfort. Patient had no previous history of trauma. Physical examination showed bowel sound involving the left hemithorax. Imaging modalities confirmed the diagnosis of a congenital left diaphragmatic eventeration. Patient underwent plication of the diaphragm using the abdominal approach. Intra-operatively, the left diaphragm was attenuated...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28371509/retrocardiac-lung-lobe-in-a-neonate-with-scimitar-syndrome
#10
Natalia Rivero Jiménez, Carlos Labrandero de Lera, Montserrat Bret-Zurita
Scimitar syndrome is a rare congenital disorder which is associated with right lung developmental abnormalities, mainly hypoplastic right lung. We present the case of a neonate with a retrocardiac lung lobe that, to the best of our knowledge, has not been described yet. Multimodality imaging can establish the diagnosis and enable a correct description of this anomaly and its anatomical varieties.
September 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28348949/impact-of-advanced-medical-therapy-for-the-outcome-of-an-adult-patient-with-eisenmenger-syndrome
#11
Eglė Ereminienė, Marija Kinderytė, Skaidrius Miliauskas
Eisenmenger syndrome (ES) is the most severe form of pulmonary arterial hypertension (PAH) associated with congenital heart disease. It is an extremely devastating condition with a serious impact on patients' life. Classical therapy of ES remains directed to avoid complications, such as erythrocytosis, treatment of congestive heart failure, prevention of infection, and secondary haematological abnormalities such as iron deficiency and coagulation disorders. However, the only effective treatment is heart-lung transplantation; still, morbidity and mortality after transplantation remain substantially high...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#12
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28195247/type-ii-congenital-pulmonary-airway-malformation-associated-with-intralobar-pulmonary-sequestration-report-of-a-case-and-review-of-classification-criteria
#13
M G Mastrogiulio, A Barone, M G Disanto, A Ginori, M R Ambrosio, S F Carbone, D Spina
Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels...
March 2016: Pathologica
https://www.readbyqxmd.com/read/28144070/perpetual-dilemma-pleural-or-parenchymal-congenital-or-acquired-solitary-cystic-lesion-with-fluid-level
#14
Deepak Talwar, Onkar Jha, Rahul Kumar Sharma, Rajat Saxena
Congenital cystic adenomatoid malformations (CCAMs) are rare congenital, nonhereditary developmental anomalies of the lung with unknown etiology. CCAM is predominantly a disorder of infancy with the majority of the cases being diagnosed within the first 2 years of life. When CCAM presents in adults, it represents a diagnostic dilemma and requires careful evaluation. We here report a case of large solitary congenital pulmonary cystic adenomatoid malformation with infection and hemorrhage, which was diagnosed as encysted hydropneumothorax on computerized tomography scans but turned out to be infected pulmonary cystic adenomatoid malformation after surgical excision...
January 2017: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/28120278/long-term-management-challenges-in-esophageal-atresia
#15
REVIEW
Abby White, Raphael Bueno
Esophageal atresia is a rare congenital anomaly, but improved surgical and critical care has resulted in survival rates exceeding 90%. Long-term survival is associated with numerous management challenges including chronic motility disorders, dysphagia, strictures, reflux, esophagitis and attendant complications, tracheomalacia and chronic restrictive lung disease, and recurrent pulmonary infections. No guidelines for adolescents and younger or older adults exist for the treatment and monitoring of this specialized patient population...
March 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28094013/pulmonary-outcome-of-esophageal-atresia-patients-and-its-potential-causes-in-early-childhood
#16
René Dittrich, Philippe Stock, Karin Rothe, Petra Degenhardt
INTRODUCTION: The aim of this study was to illustrate the pulmonary long term outcome of patients with repaired esophageal atresia and to further examine causes and correlations that might have led to this outcome. METHODS: Twenty-seven of 62 possible patients (43%) aged 5-20years, with repaired esophageal atresia were recruited. Body plethysmography and spirometry were performed to evaluate lung function, and the Bruce protocol treadmill exercise test to assess physical fitness...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28029591/cardiorespiratory-interactions-in-paediatrics-it-s-almost-always-the-circulation-stupid
#17
REVIEW
M L Rigby, M Rosenthal
The interaction of the heart and lungs is probably the most important aspect of life and survival. Fortunately, it is not difficult to understand the fundamentals. The purpose of the lungs and their ventilation is to present oxygen to the circulation via the alveoli and to receive carbon dioxide from the circulation and then expel it. The relations of the heart and lungs and the matching of blood flow to the various organs with ventilation and lung perfusion may be disrupted by a variety of congenital or acquired heart malformations...
March 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28012500/familial-diffuse-pulmonary-ossification-a-possible-genetic-disorder
#18
Yoshiaki Kinoshita, Ichiko Mizuguchi, Kouko Hidaka, Hiroshi Ishii, Kentaro Watanabe
Diffuse pulmonary ossification (DPO) is an uncommon disease that is characterized by the widespread formation of ectopic bone in the lungs. Herein, we describe two familial cases of DPO. The patients were a 47-year-old woman and her 76-year-old father. Both patients had a history of recurrent cough, and their chest images showed multiple nodules with ossification. No underlying diseases that might have caused DPO were evident; however, the female patient also had congenital finger hypoplasia and deformity. The present cases indicate the possibility that DPO might be partly associated with genetic disorders...
January 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/27993326/interventional-treatment-of-pulmonary-lymphatic-anomalies
#19
REVIEW
Maxim Itkin
Pulmonary lymphatic diseases have been recognized for many years and have been referred as pulmonary lymphangiectasia, pulmonary lymphangiomatosis, plastic bronchitis, and idiopathic chylothorax or chylopericardium. The lymphatic etiology of these conditions has been determined by detection of cystic lymphatic structures on biopsy or postmortem examination. Development of new imaging techniques such as dynamic contrast-enhanced magnetic resonance lymphangiography has allowed better understanding of pathophysiology of these conditions...
December 2016: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#20
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
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