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https://www.readbyqxmd.com/read/28544750/unexpected-ethical-dilemmas-in-sex-assignment-in-46-xy-dsd-due-to-5-alpha-reductase-type-2-deficiency
#1
Heather M Byers, Lauren H Mohnach, Patricia Y Fechner, Ming Chen, Inas H Thomas, Linda A Ramsdell, Margarett Shnorhavorian, Elizabeth A McCauley, Anne-Marie E Amies Oelschlager, John M Park, David E Sandberg, Margaret P Adam, Catherine E Keegan
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28544631/spermatozoa-from-males-with-reduced-fecundity-exhibit-differential-dna-methylation-patterns
#2
M Laqqan, S Tierling, Y Alkhaled, C Lo Porto, E F Solomayer, M Hammadeh
Infertility affects 10-15% of couples, and approximately 50% of cases are linked to male factor infertility. The purpose of this study was to evaluate the DNA methylation patterns in spermatozoa from males who are suffering from a reduction in fecundity. Thirty samples were subjected to 450K arrays as a screening study to evaluate the variation in sperm DNA methylation levels between cases and controls groups, and then four CpG sites (cg05799088, cg07227024, cg16338278, and cg08408433) underwent to deep bisulfite sequencing to validate the observed methylation differences in 111 samples (56 proven fertile males as 'controls' and 55 males suffering from a reduction in fecundity as 'cases')...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28543743/detection-and-localization-of-regucalcin-in-spermatozoa-of-water-buffalo-bubalus-bubalis-a-calcium-regulating-multifunctional-protein
#3
H Pillai, A M Shende, M S Parmar, J Thomas, H S Kartha, G Taru Sharma, S K Ghosh, S K Bhure
Regucalcin (RGN) is a calcium-regulating, anti-apoptotic, antioxidative and antiproliferative multifunctional protein predominantly seen in liver and kidney. All these functions are very crucial during spermatogenesis and sperm maturation process until fertilization of the ovum. Although many studies have reported the wide distribution of regucalcin in the male reproductive tract of the rat, human and bovine, its presence in spermatozoa is yet to be demonstrated wherein calcium has a pivotal role in the transport, capacitation, acrosomal reaction and further fusion with ova...
May 24, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28543445/psoriasis-in-those-planning-a-family-pregnant-or-breast-feeding-the-australasian-psoriasis-collaboration
#4
REVIEW
Marius Rademaker, Karen Agnew, Megan Andrews, Katherine Armour, Chris Baker, Peter Foley, John Frew, Kurt Gebauer, Monisha Gupta, Debra Kennedy, Gillian Marshman, John Sullivan
The Australasian Psoriasis Collaboration has reviewed the evidence for managing moderate to severe psoriasis in those who are pregnant or are breast-feeding, or planning a family. The severity of the psoriasis, associated comorbidities and specific anti-psoriasis treatment, along with other exposures, can have a deleterious effect on pregnancy outcomes. Psoriasis itself increases the risk of preterm and low birthweight babies, along with spontaneous and induced abortions, but no specific birth defects have been otherwise demonstrated...
May 23, 2017: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/28542403/ghrelin-modulates-testicular-damage-in-a-cryptorchid-mouse-model
#5
Enrica Bianchi, Kim Boekelheide, Mark Sigman, Susan J Hall, Kathleen Hwang
Cryptorchidism or undescended testis (UDT) is a common congenital abnormality associated with increased risk for developing male infertility and testicular cancer. This study elucidated the effects of endogenous ghrelin or growth hormone secretagogue receptor (GHSR) deletion on mouse reproductive performance and evaluated the ability of ghrelin to prevent testicular damage in a surgical cryptorchid mouse model. Reciprocal matings with heterozygous/homozygous ghrelin and GHSR knockout mice were performed. Litter size and germ cell apoptosis were recorded and testicular histological evaluations were performed...
2017: PloS One
https://www.readbyqxmd.com/read/28541603/comparison-of-first-line-chemotherapy-including-escalated-beacopp-versus-chemotherapy-including-abvd-for-people-with-early-unfavourable-or-advanced-stage-hodgkin-lymphoma
#6
REVIEW
Nicole Skoetz, Andrea Will, Ina Monsef, Corinne Brillant, Andreas Engert, Bastian von Tresckow
BACKGROUND: There are two different international standards for the treatment of early unfavourable and advanced stage Hodgkin lymphoma (HL): chemotherapy with escalated BEACOPP (bleomycin/etoposide/doxorubicin/cyclophosphamide/vincristine/procarbazine/prednisone) regimen and chemotherapy with ABVD (doxorubicin/bleomycin/vinblastine/dacarbazine) regimen. OBJECTIVES: To determine the advantages and disadvantages of chemotherapy including escalated BEACOPP compared to chemotherapy including ABVD in the treatment of early unfavourable or advanced stage HL as first-line treatment...
May 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28541576/rapidly-evolving-toll-3-4-genes-encode-male-specific-toll-like-receptors-in-drosophila
#7
Tera C Levin, Harmit S Malik
Animal Toll-like receptors (TLRs) have evolved through a pattern of duplication and divergence. Whereas mammalian TLRs directly recognize microbial ligands, Drosophila Tolls bind endogenous ligands downstream of both developmental and immune signaling cascades. Here, we find that most Toll genes in Drosophila evolve slowly with little gene turnover (gains/losses), consistent with their important roles in development and indirect roles in microbial recognition. In contrast, we find that the Toll-3/4 genes have experienced an unusually rapid rate of gene gains and losses, resulting in lineage-specific Toll-3/4s and vastly different gene repertoires among Drosophila species, from zero copies (e...
May 25, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28541472/homozygous-deletion-of-sun5-in-three-men-with-decapitated-spermatozoa
#8
Razan A Elkhatib, Marine Paci, Guy Longepied, Jacqueline Saias-Magnan, Blandine Courbiere, Marie-Roberte Guichaoua, Nicolas Levy, Catherine Metzler-Guillemain, Michael J Mitchell
A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes acephalic spermatozoa syndrome. Consistent with this, the SUN5 protein localises to the head-tail junction in normal spermatozoa, and SUN proteins are known to form links between the cytoskeleton and the nucleus. However, six of the ten SUN5 variants reported were missense with an unknown effect on function, and only one man carried two certain loss-of-function (LOF) alleles: p...
May 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28541460/seminal-plasma-pro-inflammatory-cytokines-interferon-%C3%AE-ifng-and-c-x-c-motif-chemokine-ligand-8-cxcl8-fluctuate-over-time-within-men
#9
David J Sharkey, Kelton P Tremellen, Nancy E Briggs, Gustaaf A Dekker, Sarah A Robertson
STUDY QUESTION: Do seminal plasma pro-inflammatory cytokines interferon-γ (IFNG) and C-X-C motif chemokine ligand 8 (CXCL8) vary within individual men over time? SUMMARY ANSWER: IFNG exhibits substantial variation that is independent of duration of abstinence but correlates with lipopolysaccharide (LPS) content, while CXCL8 varies moderately in association with duration of abstinence. WHAT IS KNOWN ALREADY: Pro-inflammatory cytokines IFNG and CXCL8 in seminal fluid can adversely impact male and female fertility...
May 25, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28541378/what-does-a-single-semen-sample-tell-you-implications-for-male-factor-infertility-research
#10
Yu-Han Chiu, Regina Edifor, Bernard A Rosner, Feiby L Nassan, Audrey J Gaskins, Lidia Minguez-Alarcon, Paige L Williams, Cigdem Tanrikut, Russ Hauser, Jorge E Chavarro
Semen parameters are variable within-man but it is unclear whether one sample could represent a man's long-term average in epidemiologic studies. Between 2005 and 2014, 329 men from a fertility clinic provided 768 semen samples in the EARTH study in Boston, Massachusetts.Total sperm count, concentration, morphology, motility, and ejaculate volume were assessed. We used linear mixed models to compare men's first samples to their long-term averages, and calculate intraclass correlation coefficients for each parameter...
May 24, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28538689/reticulate-evolution-of-the-rock-lizards-meiotic-chromosome-dynamics-and-spermatogenesis-in-diploid-and-triploid-males-of-the-genus-darevskia
#11
Victor Spangenberg, Marine Arakelyan, Eduard Galoyan, Sergey Matveevsky, Ruzanna Petrosyan, Yuri Bogdanov, Felix Danielyan, Oxana Kolomiets
Knowing whether triploid hybrids resulting from natural hybridization of parthenogenetic and bisexual species are fertile is crucial for understanding the mechanisms of reticulate evolution in rock lizards. Here, using males of the bisexual diploid rock lizard species Darevskia raddei nairensis and Darevskia valentini and a triploid hybrid male Darevskia unisexualis × Darevskia valentini, we performed karyotyping and comparative immunocytochemistry of chromosome synapsis and investigated the distribution of RAD51 and MLH1 foci in spread spermatocyte nuclei in meiotic prophase I...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28537489/hydrogen-sulfide-as-a-potential-target-in-preventing-spermatogenic-failure-and-testicular-dysfunction
#12
Jing Wang, Wan Wang, Shuangyue Li, Yi Han, Ping Zhang, Guoliang Meng, Yujiao Xiao, Liping Xie, Xin Wang, Jiahao Sha, Qi Chen, Philip K Moore, Rui Wang, Wenpei Xiang, Yong Ji
AIMS: Testis and sperm are particularly susceptible to inflammation and oxidative stress. Although Hydrogen sulfide (H2S) has been considered as an important biological signaling molecule in inflammatory and oxidative stress processes, its role in male reproductive system was poorly understood. The aim of this study was to investigate the role of H2S in the regulation of male reproductive system. RESULTS: We found that both sub-fertile and infertile patients, especially asthenospermic patients, exhibited a decreased concentration of H2S in their seminal plasma and diminished expression of H2S-generating enzyme (cystathionine β-synthase, CBS) in sperm...
May 24, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28537047/comparison-of-the-ratio-of-the-lenght-of-the-second-and-fourth-digits-in-subgroups-of-fertile-and-infertile-cases
#13
Emre Can Akinsal, Abdullah Demirtas, Oguz Ekmekcioglu
PURPOSE: To identify any relationship between known reasons of male infertility and 2D:4D ratio. MATERIALS AND METHODS: A total of 371 males were included in the study. The cases were grouped into 6 groups including sperm count < 5 million/mL, sperm count ≥ 5 million/mL, Klinefelter Syndrome, hypogonadotropic hypogonadism, vasal agenesis and control. Groups were compared with each other in terms of 2D:4D ratios and groups with a 2D:4D ratios below 1 and equal/above 1 were compared...
May 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/28536242/mutation-in-tdrd9-causes-non-obstructive-azoospermia-in-infertile-men
#14
Maram Arafat, Iris Har-Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Maram Abofoul-Azab, Victor Dyomin, Val C Sheffield, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
BACKGROUND: Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%-20% of infertile males. Non-obstructive azoospermia (NOA) is characterised by the absence of sperm due to either a Sertoli cell-only pattern, maturation arrest, hypospermatogenesis or mixed patterns. NOA is a severe form of male infertility, with limited treatment options and low fertility success rates. In the majority of patients, the cause for NOA is not known and mutations in only a few genes were shown to be causative...
May 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28534271/optic-disc-granuloma-with-epididymitis-a-diagnostic-challenge
#15
Parthopratim Dutta Majumder, Sowkath Ali, Jyotirmay Biswas
BACKGROUND: Sarcoidosis and tuberculosis (TB) share epidemiological, immunological, and molecular features common to both, and often, it becomes difficult to differentiate them especially in a highly TB-endemic country like India. We report a case of optic disc granuloma along with epididymitis and infertility in a male who showed a response to treatment with anti-tuberculosis therapy and steroids. RESULTS: A 35-year-old Indian male who presented with complaints of blurring vision in the right eye for 6 months and treated elsewhere with two intravitreal injections of anti-VEGF was found to have optic disc granuloma in the right eye...
December 2017: Journal of Ophthalmic Inflammation and Infection
https://www.readbyqxmd.com/read/28534180/the-c-terminal-kinesin-motor-kifc1-may-participate-in-nuclear-reshaping-and-flagellum-formation-during-spermiogenesis-of-larimichthys-crocea
#16
Dan-Dan Zhang, Xin-Ming Gao, Yong-Qiang Zhao, Cong-Cong Hou, Jun-Quan Zhu
Spermatogenesis is a highly ordered process in the differentiation of male germ cells. Nuclear morphogenesis is one of the most fundamental cellular transformations to take place during spermatogenesis. These striking transformations from spermatogonia to spermatozoa are a result of phase-specific adaption of the cytoskeleton and its association with molecular motor proteins. KIFC1 is a C-terminal kinesin motor protein that plays an essential role in acrosome formation and nuclear reshaping during spermiogenesis in mammals...
May 23, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28533904/-this-is-where-it-all-started-the-pivotal-role-of-plc%C3%AE-within-the-sophisticated-process-of-mammalian-reproduction-a-systemic-review
#17
Itai Gat, Raoul Orvieto
Mammalian reproduction is one of the most complex and fascinating biological phenomenon, which aims to transfer maternal and paternal genetic material to the next generation. At the end of oogenesis and spermatogenesis, both haploid gametes contain a single set of chromosomes ready to form the zygote, the first cell of the newly developing individual. The mature oocyte and spermatozoa remain in a quiescent state, during which the oocyte is characterized by nuclear and cytoplasmic arrest, while the spermatozoa necessitates further maturation within the epididymis and female reproductive track prior to egg fertilization...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28533361/healthy-offspring-from-freeze-dried-mouse-spermatozoa-held-on-the-international-space-station-for-9-months
#18
Sayaka Wakayama, Yuko Kamada, Kaori Yamanaka, Takashi Kohda, Hiromi Suzuki, Toru Shimazu, Motoki N Tada, Ikuko Osada, Aiko Nagamatsu, Satoshi Kamimura, Hiroaki Nagatomo, Eiji Mizutani, Fumitoshi Ishino, Sachiko Yano, Teruhiko Wakayama
If humans ever start to live permanently in space, assisted reproductive technology using preserved spermatozoa will be important for producing offspring; however, radiation on the International Space Station (ISS) is more than 100 times stronger than that on Earth, and irradiation causes DNA damage in cells and gametes. Here we examined the effect of space radiation on freeze-dried mouse spermatozoa held on the ISS for 9 mo at -95 °C, with launch and recovery at room temperature. DNA damage to the spermatozoa and male pronuclei was slightly increased, but the fertilization and birth rates were similar to those of controls...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28531319/improved-sperm-kinematics-in-semen-samples-collected-after-2-h-versus-4-7-days-of-ejaculation-abstinence
#19
H Alipour, G Van Der Horst, O B Christiansen, F Dardmeh, N Jørgensen, H I Nielsen, C Hnida
STUDY QUESTION: Does a short abstinence period of only 2 h yield spermatozoa with better motility characteristics than samples collected after 4-7 days? SUMMARY ANSWER: Despite lower semen volume, sperm concentration, total sperm counts and total motile counts, higher percentages of motile spermatozoa with higher velocity and progressiveness were detected in samples obtained after 2 h. WHAT IS KNOWN ALREADY: Most studies that have assessed the effect of abstinence periods on sperm motility parameters in men with a sperm concentration below 15 million/ml have detected a higher percentage of motile spermatozoa in samples obtained after short abstinence periods...
May 22, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#20
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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