by Joep Geraedts

Received: 15 January 2019;  Published: 15 January 2019;  doi: 10.21926/obm.genet.1901059

A healthy and happy 2019

by Camila Sandoval  , Colleen A Lambo  and Michael Carey Satterfield

Received: 01 June 2018;  Published: 28 December 2018;  doi: 10.21926/obm.genet.1804058

Understanding the pathophysiology of disease can be an essential step to determining where and how to intervene for preventive or corrective health. Intrauterine growth restriction (IUGR) is a broad category of ailments described by low fetal weight and accompanying susceptibility to adult onset of chronic disease through fetal programming for a thrifty phenotype. This concern affects humans and animals alike, representing a large sum of healthcare costs worldwide, and a substantial loss in animal agricultural yiel [...]

by Whitney Rabacal  , Emily Rayens  and Karen Norris

Received: 02 November 2018;  Published: 27 December 2018;  doi: 10.21926/obm.genet.1804057

Pneumocystis causes life-threatening pneumonia in immunocompromised populations. More recently it has been implicated as a co-factor in a number of chronic lung diseases including chronic obstructive pulmonary disease (COPD), severe asthma, and cystic fibrosis. In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV and non-HIV immunocompromised populations, and the barriers to prophylaxis and treatment in these patients. Trimethoprim sulfamethoxazole (TMP-SMX) is [...]

by William E Sweeney  , Ameya Patil  and Ellis D. Avner

Received: 07 August 2018;  Published: 23 December 2018;  doi: 10.21926/obm.genet.1804056

Renal cysts are present in a wide variety of hereditary renal diseases in children. The term polycystic kidney disease (PKD) refers to two specific hereditary diseases, distinguished by the usual age of onset and genetic cause: autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF, MIM *606702) and autosomal dominant polycystic disease (ADPKD-OMIM *601313 and OMIM *173910). ARPKD/CHF is characterized by cystic dilations of the renal collecting ducts and developmental defects of biliar [...]

by Taylor Lawrence  and Therese M. Murphy

Received: 29 October 2018;  Published: 19 December 2018;  doi: 10.21926/obm.genet.1804055

Telomeres are TTAGGG repeats located at the end of chromosomes that maintain DNA stability. Telomere length (TL) has been widely implicated as a marker of biological age, and is associated with several human diseases, including depression, cardiovascular disease and cancer. Twin studies and cohort studies estimate heritability of TL between 78-82%. Moreover, several genomic loci which influence TL have been identified. Despite the success of genetic studies in furthering our understanding of telomere biology, ident [...]

by Cristina Bagacean  , Anne Bordron  , Tempescul Adrian  , Jean Christophe Ianotto  , Gaelle Guillerm  , Wesley H Brooks  , Marie-Anne Couturier  , Mihnea Zdrenghea  , Christian Berthou  and Yves Renaudineau

Received: 05 June 2018;  Published: 14 December 2018;  doi: 10.21926/obm.genet.1804054

Myelodysplastic syndromes (MDS) represent malignant myeloid disorders characterized by ineffective hematopoiesis, peripheral cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). AML is a highly heterogeneous disease characterized by the presence of large chromosomal translocations, gene fusions as well as mutations in the genes involved in hematopoietic proliferation and differentiation resulting in the accumulation of poorly differentiated myeloid cells. Chronic lymphocytic leukemia (C [...]

by Shili Lin  and Hengrui Luo

Received: 23 May 2018;  Published: 10 December 2018;  doi: 10.21926/obm.genet.1804053

DNA methylation is an epigenetic mark that is not only important in normal cell development, but also plays a significant role in human health and diseases. As such, studies of DNA methylation to understand its precise role in disease etiology and its potential as disease biomarkers have been actively pursued. One key issue in analyzing DNA methylation data is detection of significant differences in methylation levels between two diseased individuals and normal controls. In recent years, molecular technology has be [...]

by Walter Hughes

Received: 12 September 2018;  Published: 06 December 2018;  doi: 10.21926/obm.genet.1804052

Experiences with Pneumocystis carinii and Pneumocystis jirovecii over the past one-half century are recounted. Circumstances threatening the lives of children with fatal Pneumocystis pneumonia (PCP) in 1969 led to discovery of the anti-P. carinii activity of trimethoprim-sulfamethoxazole in the laboratory. This was followed by clinical trials that culminated in a scheme of chemoprophylaxis and treatment of PCP that has served as the standard of practice for over 40 years. Two additional drugs, dapsone and atovaquo [...]

by Rositsa Hristova  , Dimka Georgieva  , Albena Staynova  and Valeria Hadjidekova

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051

Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria whit Co source (137 TBq) used to sterilise equipment. Five people received doses exceed 1Gy and led to development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the averaged acute whole-body doses estimated for the five patients were from 1.2 to 5.6 Gy. The purpose of this study was to evaluate in vivo induced chromosome aberrations four months after accident in the most [...]

by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , Sheela Nampoothiri  , Marjolein H. Willemsen  , Eelco Dulfer  , Madhavan V. Thampi  , Nicole de Leeuw  and Conny M.A. van Ravenswaaij-Arts

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed in some families. Our aim is to provide an overview of the underlying causes of recurrence in families with PMS and to summarize the available detection methods used to assess increased recurrence risk. Methods: We report clinical and (cyto)genetic data for five famili [...]