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) has been defined in livestock species as impaired gestational development of a fetus or its parts [1]. This broad category of ailments described by low fetal weight is accompanied by susceptibility to adult onset of chronic disease through fetal programming of numerous organ systems and their functions. This concern affects humans [...]

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 (CF). In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV-infected patients and non-HIV immunocompromised populations, and the barriers to prophylaxis and treatment in these patients. Trimethoprim sulfame [...]

by Ameya Patil  , William E Sweeney  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

Epigenetic dysregulation is present in both myeloid and lymphoid disorders, with important differences reported between myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), on one hand, and chronic lymphocytic leukemia (CLL), on the other. Qualitative differences are reported in MDS/AML with gene fusions (e.g. TET1/LCX) and somatic mutations in epigenetic regulators (e.g. DNMT3A, TET2, IDH1/2), while differences in CLL are predominantly quantitative (e.g. DNMT3A, TET2). Indeed, and as supported by studies [...]

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 change that is not only important in normal cell development, but also plays a significant role in human health and disease. Therefore, studies of DNA methylation have been actively pursued to clarify the precise role of this modification in disease etiology and its potential as a biomarker of disease. One key issue in analyzing DNA methylation data is the detection of significant differences in methylation levels between diseased individuals and healthy controls. In recent years, m [...]

by Walter Hughes

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

My experiences with the identification and development of the anti-Pneumocystis drugs trimethoprim-sulfamethoxazole, dapsone and atovaquone are recounted. Attention is drawn to certain often-overlooked aspects of these drugs, including their concomitant effects against infections other than Pneumocystis, matters of dosing and adverse effects. During the past four decades several million people worldwide received chemoprophylaxis and treatment with these drugs for Pneumocystis jirovecii pneumonia. The population of [...]

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 with a cobalt source (137 TBq) that was used to sterilize equipment. Five people received doses exceeding 1Gy, which led to the development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the average acute whole-body doses estimated for the five patients ranged from 1.2 to 5.6 Gy. The purpose of this study was to evaluate induced chromosome aberrations in vivo four months af [...]

by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , Martijn J. de Groot  , 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 1 in 20,000 newborns. Although it usually occurs de novo with a low recurrence risk, an increased recurrence risk is observed in some families. In this paper, we provide an overview of the underlying causes of increased recurrence risk in families with PMS and present a workflow aimed at identifying an increased recurrence risk. Methods: First, we report clinical [...]

by Ana Luísa Tomás  and Olga Matos

Received: 21 August 2018;  Published: 13 November 2018;  doi: 10.21926/obm.genet.1804049

Pneumocystis jirovecii pneumonia (PcP) remains a major cause of respiratory illness among immunocompromised patients. PcP is difficult to diagnose, in particular in non-HIV-infected patients, due to the lack of associated specific clinical data. Since P. jirovecii could not be cultivated for many years, microscopic visualization of cystic or trophic forms in respiratory specimens based on cytochemical or immunofluorescence staining are the standard procedure to identify this fungus. Polymerase chain reaction (PCR)- [...]