Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation: A case report

Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes of this diagnosis. Several methods included semen analysis, hormone measurements, cytogenetic analysis, and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing. Interventions: The patient underwent detailed genetic counseling. Cytogenetic analysis was advised for his father. Preimplantation genetic diagnosis was performed to improve potential pregnancy success rate. Outcomes: Semen analysis revealed oligoasthenozoospermia. Hormone levels were within the normal limits. The karyotype of the patient and his father was 45,X,der(Y;22). Sequencing results indicated the presence of the sex-determining region on the Y chromosome gene. Y-chromosome microdeletion detection showed the presence of AZF (azoospermic factor)a, AZFb, and AZFc regions, but deletion of b2/b3 and duplication of b3/b4 regions. Lessons: A clinical ka...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Related Links:

Cells sense the extracellular environment and mechanical stimuli and translate these signals into intracellular responses through mechanotransduction, which alters cell maintenance, proliferation, and differentiation. Here we use a mouse model of trauma-induced heterotopic ossification (HO) to examine how cell-extrinsic forces impact mesenchymal progenitor cell (MPC) fate. After injury, single-cell (sc) RNA sequencing of the injury site reveals an early increase in MPC genes associated with pathways of cell adhesion and ECM-receptor interactions, and MPC trajectories to cartilage and bone. Immunostaining uncovers active me...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Contributors : Saniya Rattan ; Hannah K Beers ; Athilakshmi Kannan ; Anujaianthi Ramakrishnan ; Emily Brehm ; Indrani Bagchi ; Joseph M Irudayaraj ; Jodi A Flaws ; Mary J LawsSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusDi(2-ethylhexyl) phthalate (DEHP) is a commonly used plasticizer and known endocrine disrupting chemical, which causes transgenerational reproductive toxicity in female rodents. However, the mechanisms of action underlying the transgenerational toxicity of DEHP are not understood. Therefore, this study determined the effects of prenatal and ancestral DEHP exposure o...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Publication date: Available online 21 September 2020Source: Pregnancy HypertensionAuthor(s): Karen Jiménez, Adrien Morel, Laura Parada-Niño, María Alejandra González-Rodriguez, Stephanie Flórez, David Bolívar-Salazar, Silvia Becerra-Barona, Angel Aguirre-García, Tatiana Murcia, Luisa Fernanda Castillo, Carolina Carlosama, Javier Ardila, Daniel Vaiman, Norma Serrano, Paul Laissue
Source: Pregnancy Hypertension: An International Journal of Womens Cardiovascular Health - Category: OBGYN Source Type: research
SUMMARY Since the outbreak of a cluster of patients with pneumonia of unknown cause in Wuhan, Hubei Province, China, in December 2019, the disease was later officially named coronavirus disease 2019 (COVID-19) caused by the novel severe acute respiratory syndrome coronavirus (SARS-CoV-2), quickly spreading globally. Pregnant women and children are particularly vulnerable during disasters and emergencies. Comprehensive and applicable emergency preparedness and response are definitely important methods to prevent and contain the COVID-19 pandemic. The rational allocation of pharmaceutical resources plays an important role in...
Source: Revista da Associacao Medica Brasileira - Category: General Medicine Source Type: research
CONCLUSION Further studies with a great number of cases are warranted to elucidate whether the virus may be vertically transmitted to the fetus and if any maternal conditions can influence that. Our findings seem to demonstrate that vertical transmission is possible but quite unusual.RESUMO OBJETIVO Revisar as evid ências científicas atuais sobre a transmissão vertical relacionada à infecção pelo novo coronavírus 2019 (COVID-19). MÉTODOS Uma revisão integrativa foi realizada por dois pesquisadores independentes, com base na literatura disponível nas bases...
Source: Revista da Associacao Medica Brasileira - Category: General Medicine Source Type: research
Publication date: October 2020Source: Canadian Journal of Diabetes, Volume 44, Issue 7Author(s): Taylor S. Morriseau, Brandy A. Wicklow, Barry Lavallee
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
Source: Journal of Maternal-Fetal and Neonatal Medicine - Category: Perinatology & Neonatology Authors: Source Type: research
ConclusionThe findings declare that inhibition ofPVT1 could be a new target in the treatment of AML-M0 and help to approach more to treatments with fewer side effects.
Source: Clinical and Translational Oncology - Category: Cancer & Oncology Source Type: research
Today's open access paper discusses the impact of mitochondrial DNA damage on female reproductive capabilities. Mitochondria are the power plants of the cell, a herd of hundreds of organelles responsible for packaging the chemical energy store molecule ATP, used to power cellular processes. They are additionally deeply integrated into many core cellular processes. Mitochondria are the evolved descendants of ancient symbiotic bacteria: they carry their own small genome, the mitochondrial DNA, and replicate like bacteria. Unfortunately this mitochondrial DNA is more vulnerable and less proficiently repaired than the nuclear ...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
By Mabingue Ngom and Shoko ArakakiNEW YORK, Sep 21 2020 (IPS) The countries of Central Sahel—Burkina Faso, Mali, and Niger—face an unprecedented crisis, marked by violent extremism, forced displacement, and rising insecurity. The sharp increase in armed attacks on communities, health centres, schools and other public institutions and infrastructure has disrupted livelihoods and access to social services. The impact on affected people is devastating. As the international community responds to the crisis, we must meet immediate needs, and invest in long-term development. We must also work on shaping peace togeth...
Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Africa Armed Conflicts Crime & Justice Development & Aid Economy & Trade Education Gender Gender Violence Headlines Health Human Rights Humanitarian Emergencies Inequity Peace Sustainability TerraViva United Nations Source Type: news
More News: Azoospermia | Genetics | Hormones | Infertility | Internal Medicine | Lessons | Microdeletion Syndromes | Pregnancy | Reproduction Medicine | Translocation