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https://www.readbyqxmd.com/read/30244537/is-pnpt1-related-hearing-loss-ever-non-syndromic-whole-exome-sequencing-of-adult-siblings-expands-the-natural-history-of-pnpt1-related-disorders
#1
Alison Eaton, Francois P Bernier, Caitlin Goedhart, Oana Caluseriu, Ryan E Lamont, Kym M Boycott, Jillian S Parboosingh, A Micheil Innes
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined oxidative phosphorylation deficiency (OMIM 614932). The latter has been described in multiple families presenting with complex neurologic manifestations in childhood. We describe adult siblings with biallelic PNPT1 variants identified through WES who presented with isolated severe congenital sensorineural hearing loss (SNHL). In their 40s, they each developed and then followed a nearly identical neurodegenerative course with ataxia, dystonia, and cognitive decline...
September 23, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30241883/non-compaction-cardiomyopathy-and-early-respiratory-failure-in-an-adult-symptomatic-female-carrier-of-centronuclear-myopathy-caused-by-a-mtm1-mutation
#2
J García-García, M A Fernández-García, P Blanco-Arias, M I Díaz-Maroto-Cicuendez, F Salmerón-Martínez, V M Hidalgo-Olivares, M Olivé
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. The neurological examination identified mild proximal leg weakness and her cardiac evaluation showed a non-compaction cardiomyopathy with normal left ventricle function...
August 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30239653/predictors-of-quality-of-life-in-young-adults-with-congenital-heart-disease
#3
Sarah Rometsch, Matthias Greutmann, Beatrice Latal, Ivana Bernaschina, Walter Knirsch, Christina Schaefer, Angela Oxenius, Markus A Landolt
Aims: The aim of this study was to identify medical and psychosocial risk factors for impaired health-related quality of life (HRQoL) and poor psychological adjustment (PA) in young adults with congenital heart disease (CHD). Methods and Results: A group of 188 patients (43% females, ages 18-30 years) with various types of CHD and 139 age-matched healthy controls (57% females) completed questionnaires assessing HRQoL, PA, social support, significant life events in the past year, education level, civil status, and employment status...
September 19, 2018: European Heart Journal. Quality of Care & Clinical Outcomes
https://www.readbyqxmd.com/read/30239160/adverse-effects-of-amiodarone-therapy-in-adults-with-congenital-heart-disease
#4
Benjamin M Moore, Rachael L Cordina, Mark A McGuire, David S Celermajer
OBJECTIVE: Amiodarone is a highly effective antiarrhythmic therapy, however its toxicity profile often limits treatment. This is particularly relevant in adults with congenital heart disease (CHD), who are often young and in whom other antiarrhythmic agents commonly fail or are contraindicated. We sought to determine incidence and predictors of adverse effects caused by amiodarone in adult CHD (ACHD). DESIGN: A retrospective review of patients with moderate to complex ACHD treated with amiodarone at our center between 2000 and 2017 was performed...
September 21, 2018: Congenital Heart Disease
https://www.readbyqxmd.com/read/30238432/congenital-hypophosphataemia-in-adults-determinants-of-bone-turnover-markers-and-amelioration-of-renal-phosphate-wasting-following-total-parathyroidectomy
#5
Malachi J McKenna, Julie Martin-Grace, Rachel Crowley, Patrick J Twomey, Mark T Kilbane
Congenital hypophosphataemia (CH) is a collection of disorders that cause defective bone mineralisation manifesting with rickets in childhood and osteomalacia in adulthood. Bone turnover markers (BTMs) are surrogate measures of metabolic bone disease severity. We explored the utility of BTMs in 27 adults with CH: 23 had X-linked hypophosphataemia (XLH), of whom 2 were hypoparathyroid post-total parathyroidectomy (PTx); 2 had autosomal dominant hypophosphataemic rickets (ADHR), and 2 had none of the known mutations...
September 20, 2018: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/30237885/congenital-cystic-adenomatoid-malformation-in-adults-detected-after-infection
#6
Hiroyuki Kagawa, Keisuke Miki, Mari Miki, Koji Urasaki, Seigo Kitada
Congenital cystic adenomatoid malformation (CCAM) is a benign congenital tumour in which a part of the lung becomes polycystic. Case 1 was a 64-year-old male who was diagnosed with pneumonia, with multiple cysts in the right lower lung lobe, using chest computed tomography (CT). After treatment of the pneumonia, including Mycobacterium abscessus , a right lower lobectomy was performed. Case 2 was a 41-year-old male who had suffered from pneumonia many times since his youth. Polycystic and infiltrative shadows were observed on chest CT...
November 2018: Respirology Case Reports
https://www.readbyqxmd.com/read/30236979/mechanical-and-structural-analysis-of-the-pulmonary-valve-in-congenital-heart-defects-a-presentation-of-two-case-studies
#7
Fatiesa Sulejmani, Anastassia Pokutta-Paskaleva, Olga Salazar, Mohsen Karimi, Wei Sun
OBJECTIVE: Congenital Heart Disease (CHD) is the leading cause of pediatric mortality, with many cases affecting the right ventricular outflow tract (RVOT) or pulmonary valve (PV). Understanding the mechanics of the disease condition can provide insight into development of durable repair techniques and bioengineered replacement devices. This work presents a mechanical and structural analysis of the pulmonary valve of two pediatric cases. METHODS: Two PV tissues were excised as part of the operative procedure...
August 31, 2018: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/30236623/disparities-in-wait-list-outcomes-for-adults-with-congenital-heart-disease-listed-for-heart-transplantation-before-and-since-revision-of-status-i-listing
#8
Laith Alshawabkeh, Alexander R Opotowsky, Knute D Carter, Michael M Givertz, Michael J Landzberg, Marcus A Urey, Heather Bartlett
Medical and surgical advances in the late 20th century that allowed the majority of children born with congenital heart disease (CHD) to survive have resulted in a shift of the burden of morbidity and mortality into adulthood. Heart failure is the leading cause of death in adults with CHD. This study aimed to address the gap in understanding of outcomes of adults with CHD who have heart failure and are listed for heart transplantation compared with those without CHD. The study analyzed data from the US Scientific Registry of Transplant Recipients database, categorized by the listing era (on/before or after January 19, 1999)...
August 21, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/30236382/association-between-male-genital-anomalies-and-adult-male-reproductive-disorders-a-population-based-data-linkage-study-spanning-more-than-40-years
#9
Francisco J Schneuer, Elizabeth Milne, Sarra E Jamieson, Gavin Pereira, Michele Hansen, Andrew Barker, Andrew J A Holland, Carol Bower, Natasha Nassar
BACKGROUND: The male genital anomalies hypospadias and undescended testes have been linked to adult male reproductive disorders, testicular cancer, and decreased fertility. Few population-based studies have evaluated their effects on adult fertility outcomes and, in the case of undescended testes, the importance of early corrective surgery (orchidopexy). METHODS: We did a population-based cohort study of all liveborn boys in Western Australia in 1970-99, and followed them up until 2016 via data linkage to registries for hospital admissions, congenital anomalies, cancer, and assisted reproductive technologies (ART)...
October 2018: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/30230232/hospital-resource-utilization-and-presence-of-advance-directives-at-the-end-of-life-for-adults-with-congenital-heart-disease
#10
Jill M Steiner, James N Kirkpatrick, Susan R Heckbert, James Sibley, James A Fausto, Ruth A Engelberg, J Randall Curtis
OBJECTIVE: Overall health care resource utilization by adults with congenital heart disease has increased dramatically in the past two decades, yet little is known about utilization patterns at the end of life. The objective of this study is to better understand the patterns and influences on end-of-life care intensity for adults with congenital heart disease. METHODS: We identified a sample of adults with congenital heart disease (n = 65), cancer (n = 10 784), or heart failure (n = 3809) who died between January 2010 and December 2015, cared for in one multi-hospital health care system...
September 19, 2018: Congenital Heart Disease
https://www.readbyqxmd.com/read/30228018/subclinical-atherosclerosis-in-patients-with-cyanotic-congenital-heart-disease
#11
Julie Bjerre Tarp, Mathias Holm Sørgaard, Christina Christoffersen, Annette Schophuus Jensen, Henrik Sillesen, David Celermajer, Peter Eriksson, Mette-Elise Estensen, Edit Nagy, Niels-Henrik Holstein-Rathlou, Thomas Engstrøm, Lars Søndergaard
INTRODUCTION: Survival in patients with cyanotic congenital heart disease (CCHD) has improved dramatically. The result is an ageing population with risk of acquired heart disease. Previous small uncontrolled studies suggested that these patients are protected against the development of atherosclerosis. To test this hypothesis, we sought to determine the prevalence of subclinical atherosclerosis in a larger population of patients with CCHD. METHOD: We compared the prevalence of subclinical atherosclerosis in adult CCHD patients from Denmark, Sweden, Norway and Australia, with that in age-, sex-, smoking status-, and body mass index matched controls...
September 3, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/30227188/when-should-adult-congenital-heart-disease-patients-be-considered-for-transplant-and-deciding-which-organs-to-transplant
#12
REVIEW
Matthew Lewis, Marlon Rosenbaum
The number of adult congenital heart disease (ACHD) patients continues to increase. Because of multiple related factors such as aging, residual cardiac lesions and prior palliative procedures, advanced heart failure (HF) is increasingly prevalent in this population. Consequently, there is an emerging need to determine which patients are best suited for advanced cardiac therapies, including heart transplantation (HT) and mechanical circulatory support. Unfortunately, optimizing patient selection for these therapies is complicated by patient heterogeneity, variable HF presentation across lesion-type, and a paucity of outcome data...
September 15, 2018: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/30227186/long-term-outcomes-of-the-arterial-switch-operation-for-d-transposition-of-the-great-arteries
#13
REVIEW
Tabitha G Moe, Dianna M E Bardo
Dextrotransposition of the great arteries (d-TGA) is a relatively rare form of complex childhood congenital heart disease, which occurs in approximately 0.2 in 1000 live births1 . The most common palliative procedure for this anatomy has become the arterial switch operation (ASO). We will review in this paper the evidence that is currently available regarding the clinical management following the ASO. Individuals with d-TGA who undergo ASO at a young age thus far have excellent long-term outcomes. Long-term complications for the ASO should be monitored for and patients should have routine follow-up with specialists in adult congenital heart disease ...
September 15, 2018: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/30227127/development-of-a-congenital-heart-surgery-composite-quality-metric-part-1-conceptual-framework
#14
Sara K Pasquali, David M Shahian, Sean M O'Brien, Marshall L Jacobs, J William Gaynor, Jennifer C Romano, Michael G Gaies, Kevin D Hill, John E Mayer, Jeffrey P Jacobs
BACKGROUND: Current pediatric and congenital heart surgery quality measures focus on operative mortality, and numerous stakeholders are interested in more comprehensive measures. This report describes the background, rationale, and conceptual framework related to the development of the first composite quality metric in the field. METHODS: A multidisciplinary panel reviewed methodology and framework related to quality measurement and several composite quality measures across adult cardiac surgery other fields...
September 15, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/30225148/coronary-artery-ectasia-presenting-as-a-non-st-elevation-myocardial-infarction-in-a-young-adult-case-presentation-and-literature-review
#15
Kareem Genena, Mir Ali, Donald Christmas, Henry Siu
While acute coronary syndromes most commonly occur secondary to unstable atherosclerotic plaque, coronary aneurysms, also known as coronary artery ectasia (CAE), represent a less common etiology. Whereas coronary atherosclerosis accounts for about 50% of CAE, the remaining 50% are either congenital or secondary to a host of inflammatory and connective tissue disorders, with Kawasaki disease being a well-known association. Patients with CAE have worse outcomes than the general population regardless of the presence of associated atherosclerotic coronary artery disease...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/30224258/depression-and-anxiety-are-associated-with-high-health-care-utilization-and-mortality-among-adults-with-congenital-heart-disease
#16
Michal Benderly, Ofra Kalter-Leibovici, Dahlia Weitzman, Leonard Blieden, Jonathan Buber, Alexander Dadashev, Efrat Mazor-Dray, Avraham Lorber, Amiram Nir, Sergei Yalonetsky, Yaron Razon, Gabriel Chodick, Rafael Hirsch
BACKGROUND: The significance of depression/anxiety among ACHD patients in terms of health care utilization is unknown and data on the association with mortality are scarce. METHODS: Analyses comprised 8334 ACHD patients, age ≥ 18 years, insured by a large healthcare organization (2007-2011). Depression/anxiety were determined by diagnoses and treatments recorded in the organization database. Adjusted utilization relative rates (RRs) were estimated with negative binomial models and mortality hazard ratios (HRs) with the Cox proportional hazard model...
September 12, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/30223363/venous-congestion-and-pulmonary-vascular-function-in-fontan-circulation-implications-for-prognosis-and-treatment
#17
Alexander C Egbe, Yogesh N V Reddy, Arooj R Khan, Mohamad Al-Otaibi, Emmanuel Akintoye, Masaru Obokata, Barry A Borlaug
BACKGROUND: Elevation in central venous pressure (CVP) plays a fundamental pathophysiologic role in Fontan circulation. Because there is no sub-pulmonary ventricle in this system, CVP also provides the driving force for pulmonary blood flow. We hypothesized that this would make Fontan patients more susceptible to even low-level elevation in pulmonary vascular resistance index (PVRI), resulting in greater systemic venous congestion and adverse outcomes. METHODS: Adult Fontan patients and controls without congenital heart disease undergoing clinical evaluation that included cardiac catheterization and echocardiography were examined retrospectively...
November 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/30220883/treatment-of-chagas-disease-in-the-united-states
#18
REVIEW
Sheba Meymandi, Salvador Hernandez, Sandy Park, Daniel R Sanchez, Colin Forsyth
Purpose of Review: Chagas disease (CD) is endemic to much of Latin America, but also present in the United States (U.S.). Following a lengthy asymptomatic period, CD produces serious cardiac or gastrointestinal complications in 30-40% of people. Less than 1% of the estimated six million cases in the Americas, including 326,000-347,000 in the U.S., are diagnosed. Infected persons are typically unaware and the bulk of clinicians are unfamiliar with current treatment guidelines. This review provides U...
2018: Current Treatment Options in Infectious Diseases
https://www.readbyqxmd.com/read/30219978/stool-filling-of-an-intestinal-duplication-cyst-at-the-ileocecal-valve-triggers-colonic-intussusception-a-case-report
#19
Sota Kimura, Hiroyuki Iida, Naoto Gunji, Takeshi Gohongi, Takesaburo Ogata
BACKGROUND: Intestinal duplication, a congenital malformation, is considered a rare condition, particularly in adults. Although it affects young children, a minority of patients remains asymptomatic until adulthood. Here, we describe a case of an intestinal duplication cyst that caused intussusception by a unique mechanism. CASE PRESENTATION: A 19-year-old man was admitted to our hospital for intermittent abdominal pain. Computed tomography revealed colonic intussusception induced by a nodular mass in the ileocecal region...
September 15, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/30218808/seizure-like-episodes-and-eeg-abnormalities-in-patients-with-long-qt-syndrome
#20
Alba González, Dag Aurlien, Pål G Larsson, Ketil Berg Olsen, Iselin T Dahl, Thor Edvardsen, Kristina H Haugaa, Erik Taubøll
PURPOSE: The congenital long QT-syndrome (cLQTS) is characterized by ventricular arrhythmias, syncope and sudden cardiac death. Many LQTS genes are also expressed in the brain and emerging evidence suggest that cardiac channelopathies can also cause epilepsy. The aim of the study is to explore evidence of epilepsy and/or EEG abnormalities in a cohort with a genotyped diagnosis of LQT1 or LQT2. METHODS: Adult patients were randomly selected from the outpatient clinic and a random sample of healthy controls were recruited from the general population...
August 27, 2018: Seizure: the Journal of the British Epilepsy Association
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