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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

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https://www.readbyqxmd.com/read/27860216/somatic-overgrowth-disorders-of-the-pi3k-akt-mtor-pathway-therapeutic-strategies
#1
Kim M Keppler-Noreuil, Victoria E R Parker, Thomas N Darling, Julian A Martinez-Agosto
The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis...
November 18, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27862920/alternative-designs-for-clinical-trials-in-rare-diseases
#2
Lusine Abrahamyan, Brian M Feldman, George Tomlinson, Marie E Faughnan, Sindhu R Johnson, Ivan R Diamond, Samir Gupta
Evidence-based medicine requires strong scientific evidence upon which to base treatment. In rare diseases, study populations are often small, and thus this evidence is difficult to accrue. Investigators, though, should be creative and develop a flexible toolkit of methods to deal with the problems inherent in the study of rare disease. This narrative review presents alternative clinical trial designs for studying treatments of rare diseases, including cross-over and n-of-1 trials, randomized placebo-phase design, enriched enrollment, randomized withdrawal design, and classes of adaptive designs...
November 14, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#3
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860204/angelman-syndrome-current-and-emerging-therapies-in-2016
#4
REVIEW
Wen-Hann Tan, Lynne M Bird
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally-inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS) at the unmethylated paternal locus. We reviewed all published information on the clinical trials that have been completed as well as the publicly available information on ongoing trials of therapies in AS. To date, all clinical trials that strove to improve neurodevelopment in AS have been unsuccessful...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27813341/pharmacological-and-biological-therapeutic-strategies-for-osteogenesis-imperfecta
#5
Ronit Marom, Yi-Chien Lee, Ingo Grafe, Brendan Lee
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility, low bone mass, and bone deformities. The majority of cases are caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes that encode type I collagen, the major component of the bone matrix. The remaining cases are caused by autosomal recessively or dominantly inherited mutations in genes that are involved in the post-translational modification of type I collagen, act as type I collagen chaperones, or are members of the signaling pathways that regulate bone homeostasis...
November 3, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27813320/treatment-of-genetic-disorders-a-vision-coming-into-focus
#6
Lynne M Bird, Wen-Hann Tan
This issue of the Seminar Series is devoted to reviewing the state-of-the-art for treatment of non-metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy, gene therapy, strategies for gene regulation with exon skipping and anti-sense oligonucleotides, stem cell modification and reintroduction, and use of genetic editing tools...
November 3, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27813255/chromosome-therapy-potential-strategies-for-the-correction-of-severe-chromosome-aberrations
#7
Kathleen Plona, Taehyun Kim, Katherine Halloran, Anthony Wynshaw-Boris
Large chromosomal aberrations occur commonly during development, resulting in complex and multisystem diseases. In spite of this high frequency, there are currently no means for correcting these disorders due to their complexity and involvement of multiple genes. Recently, several new approaches have been devised that target whole chromosomes in vitro, which are collectively referred to as "Chromosome Therapies." These include silencing and selection for loss of the extra chromosome in trisomies, promotion of euploidy in an aneuploid culture, and forced loss and replacement of a chromosome...
November 3, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27792859/emerging-cellular-and-gene-therapies-for-congenital-anemias
#8
REVIEW
Leif S Ludwig, Rajiv K Khajuria, Vijay G Sankaran
Congenital anemias comprise a group of blood disorders characterized by a reduction in the number of peripherally circulating erythrocytes. Various genetic etiologies have been identified that affect diverse aspects of erythroid physiology and broadly fall into two main categories: impaired production or increased destruction of mature erythrocytes. Current therapies are largely focused on symptomatic treatment and are often based on transfusion of donor-derived erythrocytes and management of complications...
October 28, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27643593/cover-image-volume-172c-number-3-september-2016
#9
(no author information available yet)
The cover photographs were all taken by Rick Guidotti, famous photographer and founder of Positive Exposure, at the 2016 SOFT Conference in Tacoma, WA. The children have full trisomy 13 or 18 with the exception of one girl with trisomy 13 mosaicism.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27643592/perspectives-on-the-care-and-advances-in-the-management-of-children-with-trisomy-13-and-18
#10
John C Carey, Tomoki Kosho
The trisomy 13 and trisomy 18 syndromes are important and relatively common chromosome conditions each consisting of a recognizable pattern of multiple congenital anomalies, an increased neonatal and infant mortality, and a marked cognitive and motor disability in older children. Because of the medically serious nature of the outcomes, the traditional approach to management in the newborn and early infancy periods has been to withhold technological support and surgery. In the last decade a rich dialogue has emerged in the literature; one view makes the case for pure comfort care for the benefit of the child while the other view supports full intervention in appropriate situations...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27643591/publication-schedule-for-2016
#11
(no author information available yet)
No abstract text is available yet for this article.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27643590/table-of-contents-volume-172c-number-3-september-2016
#12
(no author information available yet)
No abstract text is available yet for this article.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27566680/wilms-tumor-and-trisomy-18-is-there-an-association
#13
John C Carey, Ann M Barnes
No abstract text is available yet for this article.
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27557275/shared-decision-making-and-the-pathways-approach-in-the-prenatal-and-postnatal-management-of-the-trisomy-13-and-trisomy-18-syndromes
#14
Sasha E Andrews, Ann G Downey, David Scott Showalter, Heather Fitzgerald, Vivian P Showalter, John C Carey, Peter Hulac
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during the prenatal, perinatal, and postnatal periods...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27550159/parental-hopes-interventions-and-survival-of-neonates-with-trisomy-13-and-trisomy-18
#15
Annie Janvier, Barbara Farlow, Keith J Barrington
Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27545023/procedures-in-the-1st-year-of-life-for-children-with-trisomy-13-and-trisomy-18-a-25-year-single-center-review
#16
Justin B Josephsen, Eric S Armbrecht, Stephen R Braddock, Catherine C Cibulskis
Care of the child born with trisomy 13 or 18 has evolved over the past few decades, leading to increased healthcare utilization. We hypothesized that there has been an increase in procedures across all intensity types, including major, invasive procedures. We performed a retrospective-cohort study of children with trisomy 13 or 18 from 1990 to 2014 in a quaternary, free-standing children's hospital. Children were identified using ICD-9 billing diagnoses. Procedures were identified during these encounters and categorized by intensity (major, intermediate, or minor)...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27530709/medical-interventions-and-survival-by-gender-of-children-with-trisomy-18
#17
Jennifer H Donovan, Genomary Krigbaum, Deborah A Bruns
Research has typically shown limited aggressive medical interventions and low survival rates for children with full trisomy 18. Recent studies provide more positive results. This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: "hospice or no intervention" (n = 5, 6.1%), "necessary interventions (enteral feeding, ventilator use)" (n = 46, 56...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27519909/epilepsy-in-the-setting-of-full-trisomy-18-a-multicenter-study-on-18-affected-children-with-and-without-structural-brain-abnormalities
#18
Sara Matricardi, Alberto Spalice, Vincenzo Salpietro, Gabriella Di Rosa, Maria Cristina Balistreri, Salvatore Grosso, Pasquale Parisi, Maurizio Elia, Pasquale Striano, Patrizia Accorsi, Raffaella Cusmai, Nicola Specchio, Giangennaro Coppola, Salvatore Savasta, Marco Carotenuto, Elisabetta Tozzi, Pietro Ferrara, Martino Ruggieri, Alberto Verrotti
This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with normal brain images...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27519759/trisomy-13-and-18-selecting-the-road-previously-not-taken
#19
Martin J McCaffrey
The care of patients with trisomy 13 and 18 is a source of significant controversy. While these conditions are life limiting, indisputable data refutes the notion that these conditions are lethal or incompatible with life. Despite such evidence, arguments of beneficence, quality of life and limited resources are invoked to make the case to limit care to trisomy children. Lessons learned in our ignominious history with Down syndrome should guide us as we explore care for patients with trisomy 13 and 18. As clinicians we should strive with equipoise to carefully examine available data, the current status of practices related to care from palliation to intensive interventions, rise above our personal prejudices and listen to the voices of families imploring us to consider their opinions regarding the value of the life of a child with trisomy 13 or 18...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27474103/a-tumor-profile-in-edwards-syndrome-trisomy-18
#20
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans
Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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