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Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination and reproductive traits for both men and women. This paper provides a review of the most common sex chromosomes-linked single-gene disorders involved in human infertility and their corresponding phenotypes. In addition to the Y-linked SRY gene, which mutations may cause XY gonadal dysgenesis and sex reversal, the deletions of genes present in AZF regions of the Y chromosome (DAZ, RBMY, DBY and USP9Y genes) are implicated in varying degrees of spermatogenic dysfunction. Furthermore, a list of X-linked genes (KAL1, NR0B1, AR, TEX11, FMR1, PGRMC1, BMP15 and POF1 and 2 regions genes (XPNPEP2, POF1B, DACH2, CHM and DIAPH2)) were reported to have critical roles in pubertal and reproductive deficiencies in humans, affecting only men, only women or both sexes. Mutations in these genes may be transmitted to the offspring by a dominant or a recessive inheritance. 相似文献
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Gastón Meza Denisse Urrejola Nicole Saint Jean Carolina Inostroza Valentina López Maroun Khoury Claudia Brizuela 《Journal of endodontics》2019,45(2):144-149
Introduction
Regenerative endodontic procedures have emerged as a new treatment. The aim of this case report was to describe a regenerative autologous cellular therapy using mesenchymal stem cells from inflamed dental pulp and leukocyte platelet-rich fibrin (L-PRF) in a mature tooth.Methods
A healthy 50-year-old man consulting for spontaneous dental pain was referred for endodontic treatment in tooth #28, which was diagnosed with symptomatic irreversible pulpitis. Inflamed dental pulp was extracted and transported to a good manufacturing practice laboratory for the isolation and culture of dental pulp stem cells (DPSCs). L-PRF was obtained from the patient's blood and was introduced into the instrumented and disinfected root canal, and expanded DPSCs were inoculated into the clot. The cervical part of the root canal was sealed with Biodentine (Septodont, Saint-Maur-des-Fosses, France) and a composite resin.Results
Follow-up examinations were performed 6 months and 3 years later. The examinations included periapical radiographs (to measure the periapical index [PAI]), cone-beam computed tomographic (CBCT) imaging, sensitivity, and vitality tests. Clinical evaluations revealed normal responses to percussion and palpation tests. The tooth had a delayed response to cold, and the electric pulp test was responsive. The PAI and CBCT imaging revealed that the periapical area remained normal with a PAI score of 1 and a CBCT PAI score of 0. The vitality test performed indicated low blood perfusion units.Conclusions
This case study reveals the potential use of a patient's own DPSCs and L-PRF as an alternative procedure for the treatment of pulpitis in mature permanent teeth. It also paves the way for the design of personalized cell-based clinical trials in regenerative endodontics. 相似文献6.
Singh Simron Dey Chris Kennecke Hagen Kocha Walter Maroun Jean Metrakos Peter Mukhtar Tariq Pasieka Janice Rayson Daniel Rowsell Corwyn Sideris Lucas Wong Ralph Law Calvin 《Annals of surgical oncology》2015,22(8):2685-2699
Annals of Surgical Oncology - Pancreatic neuroendocrine tumors (pNETs) are rare heterogeneous tumors that have been steadily increasing in both incidence and prevalence during the past few decades.... 相似文献
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Souhir Chaabane Meriam Messedi Rim Akrout Mariem Ben Hamad Mouna Turki Sameh Marzouk Leila Keskes Zouheir Bahloul Ahmed Rebai Fatma Ayedi Abdellatif Maalej 《Inflammation research》2018,67(8):703-710
Objectives
The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) patients.Methods
A total of 185 patients with RA were included. Homocysteine (Hcy) was assessed by fluorescence polarization immunoassay, and folate and vitamin B12 were measured by chemiluminescence immunoassays. The genetic polymorphisms were analyzed by PCR or PCR-RFLP. Hyperhomocysteinemia (HHC) was considered for Hcy?>?15 µmol/L.Results
MTHFR C677T polymorphism was associated with HHC in RA patients (multi-adjusted OR, 95% CI 2.18, [1.07–4.57]; p?=?0.031). No association was detected with the remaining polymorphisms. Plasma Hcy, folate, and vitamin B12 did not differ according to each polymorphism, or with MTX treatment or toxicity. However, HHC was more prevalent in patients with than those without MTX toxicity (32.7 vs. 16.7%; p?=?0.035).Conclusions
The MTHFR 677TT genotype is an independent risk factor for HHC in Tunisians RA patients. HHC could be a useful marker of MTX toxicity in RA patients.8.
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Medial prefrontal circuits have been reported to undergo a major reorganization over time and gradually take a more important role for remote emotional memories such as contextual fear memory or food aversion memory. The medial prefrontal cortex, and specifically its ventral subregion, the infralimbic cortex (IL), was also reported to be critical for recent memory extinction of contextual fear conditioning and conditioned odor aversion. However, its exact role in the extinction of remotely acquired information is still not clear. Using postretrieval blockade of protein synthesis or inactivation of the IL, we showed that the IL is similarly required for extinction consolidation of recent and remote fear memory. However, in odor aversion memory, the IL was only involved in extinction consolidation of recent, but not remote, memory. In contrast, only remote retrieval of aversion memory induced c-Fos activation in the IL and preretrieval inactivation of the IL with lidocaine impaired subsequent extinction of remote but not recent memory, indicating IL is necessary for extinction learning of remote aversion memory. In contrast to the effects in odor aversion, our data show that the involvement of the IL in the consolidation of fear extinction does not depend on the memory age. More importantly, our data indicate that the IL is implicated in the extinction of fear and nonfear-based associations and suggest dissociation in the engagement of the IL in the learning and consolidation of food aversion extinction over time. 相似文献