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https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#1
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29331597/variation-of-genes-involved-in-oxidative-and-nitrosative-stresses-in-depression
#2
Paulina Wigner, Piotr Czarny, Ewelina Synowiec, Michał Bijak, Katarzyna Białek, Monika Talarowska, Piotr Galecki, Janusz Szemraj, Tomasz Sliwinski
The dominating hypothesis among numerous hypotheses explaining the pathogenesis of depressive disorders (DD) is the one involving oxidative and nitrosative stress. In this study, we examined the association between single-nucleotide polymorphisms of the genes encoding SOD2 (superoxide dismutase 2), CAT (catalase), GPx4 (glutathione peroxidase 4), NOS1 (nitric oxide synthase 1), NOS2 (nitric oxide synthase 2), and the development of depressive disorders. Our study was carried out on the DNA isolated from peripheral blood collected from 281 depressed patients and 229 controls...
December 9, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29331151/the-impact-of-parental-mental-illness-across-the-full-diagnostic-spectrum-on-externalising-and-internalising-vulnerabilities-in-young-offspring
#3
Kimberlie Dean, Melissa J Green, Kristin R Laurens, Maina Kariuki, Stacy Tzoumakis, Titia Sprague, Rhoshel Lenroot, Vaughan J Carr
BACKGROUND: The intergenerational risk for mental illness is well established within diagnostic categories, but the risk is unlikely to respect diagnostic boundaries and may be reflected more broadly in early life vulnerabilities. We aimed to establish patterns of association between externalising and internalising vulnerabilities in early childhood and parental mental disorder across the full spectrum of diagnoses. METHODS: A cohort of Australian children (n = 69 116) entering the first year of school in 2009 were assessed using the Australian Early Development Census, providing measures of externalising and internalising vulnerability...
January 14, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29330774/a-collection-of-xy-female-cell-lines
#4
Fumio Kasai, Malcolm A Ferguson-Smith
Discordance between sexual phenotype and the 46,XY sex chromosome complement may be found in certain disorders of sexual development (DSD). Many of these DSD patients with female external genitalia and secondary sex characteristics have undescended testes and male internal genitalia. Causative mutations involving genes of the sex determining pathway, including the androgen receptor, SRY and the 5-alpha-reductase genes, are well-known, but the origin of other cases remain unresolved. In this report, we introduce our collection of lymphoblastoid lines derived from female patients with a 46,XY karyotype...
January 12, 2018: Human Cell
https://www.readbyqxmd.com/read/29330720/dialysis-increases-the-risk-of-bladder-recurrence-in-patients-with-upper-tract-urothelial%C3%A2-cancer-a-population-based-study
#5
Ming-Yen Lin, Wei-Ming Li, Chun-Nung Huang, Huei-Lan Lee, Sheng-Wen Niu, Li-Tzong Chen, Wen-Jeng Wu, Shang-Jyh Hwang
BACKGROUND: The relation of dialysis to tumor recurrence in patients with upper tract urothelial cancer (UTUC) is unknown; however, a limited number of small-scale studies suggest that patients with renal diseases prior to UTUC are more likely to exhibit bladder recurrence. We performed a population-based analysis to determine the effect of dialysis on bladder recurrence for patients with UTUC. METHODS: This retrospective cohort study included patients diagnosed with UTUC (2002-2007) from the Taiwan National Cancer Registry and divided them into two groups-dialysis and non-dialysis groups...
January 12, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29329750/women-and-the-experience-of-pain-and-opioid-use-disorder-a-literature-based-commentary
#6
Andrew L Koons, Marna Rayl Greenberg, Robert D Cannon, Gillian A Beauchamp
It is generally understood that pain experience and opioid abuse have relied on male-dominated models. However, sex and gender play a role in both pain experience and opioid use disorder. Using the previously validated Texas Tech University Health Sciences Center Sex and Gender Specific Health PubMed Advanced Search Tool, the authors used pertinent literature to develop this literature-based commentary on sex and gender differences in pain experience and opioid use disorder. Women report their experience of pain more frequently, have increased rates of diagnoses related to pain, have increased pain sensitivity, and have a variable response to pain and analgesia...
January 9, 2018: Clinical Therapeutics
https://www.readbyqxmd.com/read/29328024/endometrial-polyps-in-women-of-reproductive-age-clinical-and-pathogene-tic-variations
#7
N Kosei, N Zakharenko, D Herman
The aim of the study was to study the relationship between the morphofunctional characteristics of the endometrium, hormonal homeostasis and microbiocenosis of the reproductive system in patients with endometrial polyps. The study involved 130 patients aged 18-35 years: 34 patients with endometrial polyps, 30 patients with micropolyps, 36 patients with endometrial polyps and micropolyps, 30 healthy women of the control group. Hysteroscopy was performed for women who had been suspected for endometrial polyps and who had infertility or repeated recurrent miscarriages...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#8
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325437/the-prevalence-and-burden-of-mental-and-substance-use-disorders-in-australia-findings-from-the-global-burden-of-disease-study-2015
#9
Liliana G Ciobanu, Alize J Ferrari, Holly E Erskine, Damian F Santomauro, Fiona J Charlson, Janni Leung, Azmeraw T Amare, Andrew T Olagunju, Harvey A Whiteford, Bernhard T Baune
OBJECTIVES: Timely and accurate assessments of disease burden are essential for developing effective national health policies. We used the Global Burden of Disease Study 2015 to examine burden due to mental and substance use disorders in Australia. METHODS: For each of the 20 mental and substance use disorders included in Global Burden of Disease Study 2015, systematic reviews of epidemiological data were conducted, and data modelled using a Bayesian meta-regression tool to produce prevalence estimates by age, sex, geography and year...
January 1, 2018: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#10
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29323926/investigating-effects-of-sex-differences-and-prior-concussions-on-symptom-reporting-and-cognition-among-adolescent-soccer-players
#11
Brian L Brooks, Noah Silverberg, Bruce Maxwell, Rebekah Mannix, Ross Zafonte, Paul D Berkner, Grant L Iverson
BACKGROUND: There has been increasing concern regarding the possible effect of multiple concussions on the developing brain, especially for adolescent females. Hypothesis/Purpose: The objectives were to determine if there are differences in cognitive functioning, symptom reporting, and/or sex effects from prior concussions. In a very large sample of youth soccer players, it was hypothesized that (1) there would be no differences in cognitive test performance between those with and without prior concussions, (2) baseline preseason symptoms would be better predicted by noninjury factors than concussion history, and (3) males and females with prior concussions would not have differences in cognition or symptoms...
January 1, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29323513/the-five-factor-borderline-inventory-behavioral-outcomes-across-time
#12
Ashley C Helle, Hilary L DeShong, Amanda N Baraldi, Stephanie N Mullins-Sweatt
The Five-Factor Borderline Inventory Short Form (FFBI-SF) is a 48-item dimensional measure of borderline personality disorder (BPD) that was developed from the Five-factor model (FFM). Previous research has examined the relationships of the FFBI-SF to the FFM and BPD. The purpose of the current study was to investigate the relationship of FFBI-SF scales with behavioral outcomes, such as self-injury, physical fights, panic symptoms, promiscuous sex, theft, attempted suicide, reckless driving, and binge eating...
January 2018: Psychological Assessment
https://www.readbyqxmd.com/read/29321702/carpal-tunnel-syndrome-in-obstructive-sleep-apnea-patients
#13
Özgür Bilgin Topçuoğlu, Özlem Oruç, Sema Saraç, Gülgün Çetintaş Afşar, Kayıhan Uluç
Introduction: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy of the upper extremity. It is usually associated with the compression of the median nerve in the median groove. Because the main symptoms of CTS pain and numbness worsen at night, sleep disorders in CTS patients and the impact of preferred sleeping position on CTS development have been formerly studied. However, to the best of our knowledge, this is the first study assessing the frequency of CTS in obstructive sleep apnea (OSA) patients...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29321614/effects-on-metabolic-parameters-in-young-rats-born-with-low-birth-weight-after-exposure-to-a-mixture-of-pesticides
#14
Terje Svingen, Louise Ramhøj, Karen Mandrup, Sofie Christiansen, Marta Axelstad, Anne Marie Vinggaard, Ulla Hass
Pesticide exposure during fetal life can lead to low birth weight and is commonly observed in reproductive toxicology studies. Associations have also been found in low birth weight babies born from pesticide-exposed gardeners. Since low birth weight is also linked to metabolic disorders, it can be speculated that early life exposure to pesticides could increase the risk of becoming obese or developing diabetes later in life. We have analyzed potential long-term effects of gestational and lactational exposure to a low dose mixture of six pesticides that individually can cause low birth weight: Cyromazine, MCPB, Pirimicarb, Quinoclamine, Thiram, and Ziram...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321232/hypermyelination-of-the-left-auditory-cortex-in-developmental-dyslexia
#15
Michael A Skeide, Pierre-Louis Bazin, Robert Trampel, Andreas Schäfer, Claudia Männel, Katharina von Kriegstein, Angela D Friederici
OBJECTIVE: Cortical malformations are documented postmortem in speech processing areas of the dyslexic human brain. The goal of this pilot study was to find out if such anatomic anomalies can be detected noninvasively and in vivo. METHODS: We developed a reconstruction of left perisylvian cortex profiles at a resolution of 400 μm using T1 data acquired with ultra-high-field MRI at 7T. Cortical thickness, myelinated cortical thickness, and layer-wise myelination were then compared in 6 men with developmental dyslexia and 6 healthy controls matched for age, sex, handedness, education level, and nonverbal IQ...
January 10, 2018: Neurology
https://www.readbyqxmd.com/read/29320756/generation-of-an-induced-pluripotent-stem-cell-line-from-an-adult-male-with-45-x-46-xy-mosaicism
#16
Yumei Luo, Detu Zhu, Xiangye Xu, Lingxia Ge, Xiaofang Sun, Guokai Chen, Yaoyong Chen
Turner syndrome (TS) with 45,X/46,XY mosaic karyotype is a rare sex chromosome disorder with an occurrence of 0.15‰ at birth. We report the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese adult male with 45,X/46,XY mosaicism. The iPSC line retains the original 45,X/46,XY mosaic karyotype, expresses pluripotency markers and undergoes trilineage differentiation. Therefore, it offers an unprecedented cellular model to investigate the profound symptoms like infertility of TS in the male, and serve as a useful tool to develop therapies for the disease...
January 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29320669/comorbidities-in-australian-women-with-hormone-dependent-breast-cancer-a-population-based-analysis
#17
Huah Shin Ng, Bogda Koczwara, David M Roder, Theo Niyonsenga, Agnes I Vitry
OBJECTIVE: To compare how frequently selected chronic diseases developed in women with breast cancer receiving endocrine therapy, and in women without cancer. DESIGN, SETTING AND PARTICIPANTS: Retrospective, rolling cohort study, analysing a random 10% sample of Pharmaceutical Benefits Scheme (PBS) data for the period 1 January 2003 - 31 December 2014. Women with breast cancer who first commenced endocrine therapy between January 2004 and December 2011 were identified, and age- and sex-matched (1:10) by comorbidity with control groups of women who did not have a dispensing record for antineoplastic agents during the study period or the comorbidity of interest at baseline...
January 15, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29316205/autophosphorylation-of-%C3%AE-camkii-affects-social-interactions-in-mice
#18
Zofia Harda, Jakub Mateusz Dzik, Maria Nalberczak-Skóra, Ksenia Meyza, Kacper Łukasiewicz, Szymon Łęski, Kasia Radwanska
The α-Ca2+ /calmodulin-dependent protein kinase II (αCaMKII), a key regulator of the glutamatergic synapse, has been implicated in many psychiatric disorders characterized by social impairments. Here we tested whether autophosphorylation of αCaMKII at threonine 286, which prolongs the activity of the enzyme, affects social behaviors in mice. We observed that autophosphorylation-deficient (αCaMKII-T286A) mutant female mice showed abnormal social behaviors characterized by decreased social preference and interest in conspecifics of the same sex, as compared to their wild-type littermates...
January 9, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29315158/increased-incidence-of-obstructive-sleep-apnea-in-hospitalized-children-following-enterovirus-infection-a-nationwide-population-based-cohort-study
#19
Vincent Chin-Hung Chen, Yao-Hsu Yang, Ting-Yu Kuo, Kuo-You Huang, Yin-Cheng Huang, Yena Lee, Roger S McIntyre, Yu-Shu Huang, Chung-Yao Hsu
BACKGROUND: We report the first nationwide population-based cohort study using Taiwan's National Health Insurance Research Database on the association between enterovirus infection and the incidence of sleep disorders in a pediatric population. METHODS: Two matched groups of children under 18 years of age were included in the analyses for non-apneic sleep disorder and obstructive sleep apnea (OSA). Among them, 316 subjects were diagnosed with OSA during the surveillance period, including 182 in the EV infection group and 134 in the non-EV infection group...
January 8, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29311011/-screening-for-nephropathy-in-major-sickle-cell-syndromes-in-patients-monitored-at-the-national-reference-center-for-sickle-cell-disease-in-niamey-niger
#20
Moumouni Garba, Zeinabou Maiga Moussa Tondi, Hassan Diongoule, Samaila Aboubacar, Abdou Ide, Nadège Ruddy Biyao-Nelson, Illiassou Soumaila, Soumana Alido
BACKGROUND: Sickle cell anemia is the most common hereditary hemopathy in the world. It is a disease that attacks all the systems of the organism. The kidneys are among the most sensitive organs of this disease. The main objective of this study is to detect sickle cell nephropathy in patients followed at the National Reference Center for Sickle Cell Disease in Niamey. METHODS: It is a prospective study carried out over a period of one year (January to December 2016)...
January 5, 2018: Néphrologie & Thérapeutique
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