Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion

ConclusionTo the best of our knowledge, this report is the first case of a de novo gonosomal mosaic of chromosome 22q11 deletion just associated with male infertility.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Copper oxide nanoparticles (CuO NPs) use has exponentially increased in various applications (such as industrial catalyst, gas sensors, electronic materials, biomedicines, environmental remediation) due to their flexible properties, i.e. large surface area to volume ratio. These broad applications, however, have increased human exposure and thus the potential risk related to their short- and long-term toxicity. Their release in environment has drawn considerable attention which has become an eminent area of research and development. To understand the toxicological impact of CuO NPs, this review summarises the in-vitro and ...
Source: IET Nanobiotechnology - Category: Nanotechnology Source Type: research
Ureaplasma urealyticum (uu) is one of the most common agents of urogenital infections and is associated with complications such as infertility, spontaneous abortion and other sexually transmitted diseases. Here, a DNA sensor based on oligonucleotide target-specific gold nanoparticles (AuNPs) was developed, in which the dispersed and aggregated states of oligonucleotide-functionalised AuNPs were optimised for the colorimetric detection of a polymerase chain reaction (PCR) amplicon of U. urealyticum DNA. A non-cross-linking approach utilising a single Au-nanoprobe specific of the urease gene was utilised and the effect of a ...
Source: IET Nanobiotechnology - Category: Nanotechnology Source Type: research
Publication date: Available online 16 January 2020Source: Journal of Food Composition and AnalysisAuthor(s): Tereza Slámová, Anna Sadowska-Rociek, Adéla Fraňková, Magdalena Surma, Jan BanoutAbstractThe aim of this study was to develop an effective sample preparation procedure for the determination of polycyclic aromatic hydrocarbons (PAHs) in smoked fatty products of animal origin (fish, cheese and sausage). Two different approaches were tested: classical QuEChERS and procedure with the use of Enhanced Matrix Removal (EMR)-Lipid material. Two techniques of extract preconcentration: under nitrog...
Source: Journal of Food Composition and Analysis - Category: Food Science Source Type: research
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Source: Critical Reviews in Toxicology - Category: Toxicology Authors: Source Type: research
Publication date: Available online 16 January 2020Source: Journal of Hazardous MaterialsAuthor(s): Yaoping Hu, Zhijin GaoABSTRACTCrystal violet (CV), a hazardous dye, poses a serious threat to the environment and human health. This motivates us to develop a facile method for its sensitive detection. Herein, we demonstrate a rapid sensing of CV using a novel fluorescent nanomaterial, yellow emissive Se,N-codoped carbon dots (CDs). CDs with an intense photoluminescence peak at 566 nm are synthesized by a hydrothermal technique using selenourea and o-phenylenediamine as precursors. This material shows a high quantum yi...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
In this study, a targeted metabolomics approach was used to investigate the toxic mechanisms of endosulfan sulfate in adult zebrafish using the multiple reaction monitoring mode of a GC-MS/MS. The LC50 of endosulfan sulfate in adult zebrafish was determined and then zebrafish were exposed to endosulfan sulfate at one-tenth the LC50 (0.1LC50) or the LC50 for 24 and 48 hours. After exposure, the fish were extracted, derivatized and analyzed by GC-MS/MS for 379 metabolites to identify 170 metabolites. Three experimental groups (control, 0.1LC50 and LC50) were clearly separated in PLS-DA score plots. Based on the VIP, A...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
Publication date: Available online 16 January 2020Source: PharmaNutritionAuthor(s): Mohammad Mehdi Ommati, Omid Farshad, Khadijeh Mousavi, Akram Jamshidzadeh, Mohammadreza Azmoon, Sirus Heidari, Negar Azarpira, Hossein Niknahad, Reza HeidariAbstractGut barrier disintegrity and high serum bacterial endotoxin (Lipopolysaccharide; LPS) level is a prominent clinical challenge in cirrhotic patients. Several investigations mentioned the pivotal role of oxidative stress in this complication. Betaine (BET) is widely investigated for its physio/pharmacological properties. It has been found that BET mitigates oxidative stress in dif...
Source: PharmaNutrition - Category: Nutrition Source Type: research
Conclusion: These findings suggest that MAP-positive cows could be more resistant to E. coli infection, but when infected, could rapidly translocate E. coli to the subepithelial region. PMID: 31939335 [PubMed - as supplied by publisher]
Source: Veterinary Quarterly - Category: Veterinary Research Tags: Vet Q Source Type: research
Alla S. Koltsova1,2, Anna A. Pendina1, Olga A. Efimova1*, Olga G. Chiryaeva1, Tatyana V. Kuznetzova1 and Vladislav S. Baranov1,2 1D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia 2Department of Genetics and Biotechnology, Saint Petersburg State University, Saint Petersburg, Russia In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introdu...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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 o...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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