by Paul Scriven

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]

by Maud Gits-Muselli  , Stéphane Bretagne  and Alexandre Alanio

Received: 04 December 2018;  Published: 17 January 2019;  doi: 10.21926/obm.genet.1901060

Pneumocystis jirovecii is an atypical fungus transmitted via interhuman airborn contact. This fungus is exclusively associated with humans and almost each individual has encountered it at least once before reaching the age of two. Pneumocystis jirovecii can be responsible for spontaneously resolutive symptoms in infants and for severe pneumocystis pneumonia (PCP) in immunocompromised patients. The increase of the population of immunocompromised patients would probably lead to rising of PCP infections in the next de [...]

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 [...]