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Klinefelter Syndrome

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https://www.readbyqxmd.com/read/29211371/-primary-lymphedema
#1
Michèle Depairon, Claudia Lessert, Didier Tomson, Lucia Mazzolai
Characterized by an aplasia, hypoplasia or dysplasia of the lymphatic network, the primary lymphedema takes part of rare diseases. If 10 % of cases are congenital, the majority of them are detected before 35 years, most of the time due to an intercurrent event suh as a sprain or an infection. Although rarer, some primaries lymphedemas are family forms such the syndromes of Milroy and Meige. The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29195081/corrigendum-to-klinefelter-s-syndrome-47-xxy-is-in-excess-among-men-with-sj%C3%A3-gren-s-syndrome-clin-immunol-168-2016-25-29
#2
Valerie M Harris, Rohan Sharma, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Astrid Rasmussen, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Marta E Alarcon-Riquelme, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Katherine A Siminovitch, Wan-Fai Ng, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, TorstenWitte, Xavier Mariette, Christopher J Lessard, John B Harley, Kathy L Sivils, R Hal Scofield
No abstract text is available yet for this article.
November 28, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29192217/decreased-mirna-expression-in-klinefelter-syndrome
#3
Laura Cimino, Michele Salemi, Rossella Cannarella, Rosita A Condorelli, Giorgio Giurato, Giovanna Marchese, Sandro La Vignera, Aldo E Calogero
The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29186436/transcriptome-profiling-of-fetal-klinefelter-testis-tissue-reveals-a-possible-involvement-of-long-non-coding-rnas-in-gonocyte-maturation
#4
Sofia B Winge, Marlene D Dalgaard, Jacob M Jensen, Niels Graem, Mikkel H Schierup, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. KS patients display a varying adult phenotype but usually present with azoospermia due to testicular degeneration, which accelerates at puberty. The timing of the germ cell loss and whether it is caused by dysgenetic fetal development of the testes is not known.We investigated 8 fetal KS testes and found a marked reduction in MAGE-A4-positive pre-spermatogonia compared to testes from 15 age-matched controls, indicating a failure of the gonocytes to differentiate into pre-spermatogonia...
November 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29170104/unraveling-unusual-x-chromosome-patterns-during-fragile-x-syndrome-genetic-testing
#5
Gabriella Esposito, Maria Roberta Tremolaterra, Maria Savarese, Michele Spiniello, Maria Pia Patrizio, Barbara Lombardo, Lucio Pastore, Francesco Salvatore, Antonella Carsana
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), depends on dysfunctional expression of the FMR1 gene on Xq27.3. In most cases, FXS is caused by a >200 CGG repeats in FMR1 5'-untranslated region (UTR) and by promoter hypermethylation that results in gene silencing. Males and females with unmethylated premutated alleles (repeats between 55 and 200) are at risk for FXTAS and POF/POI...
November 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#6
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29142768/a-rare-double-aneuploidy-case-down-klinefelter
#7
Sevcan Tug Bozdogan, Atil Bisgin
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#8
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29040537/chromosomal-abnormalities-in-1663-infertile-men-with-azoospermia-the-clinical-consequences
#9
R B Donker, V Vloeberghs, H Groen, H Tournaye, C M A van Ravenswaaij-Arts, J A Land
STUDY QUESTION: What is the prevalence of chromosomal abnormalities in azoospermic men and what are the clinical consequences in terms of increased risk for absent spermatogenesis, miscarriages and offspring with congenital malformations? SUMMARY ANSWER: The prevalence of chromosomal abnormalities in azoospermia was 14.4%, and the number of azoospermic men needed to be screened (NNS) to identify one man with a chromosomal abnormality with increased risk for absence of spermatogenesis was 72, to prevent one miscarriage 370-739 and to prevent one child with congenital malformations 4751-23 757...
October 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29035110/early-communicative-skills-of-children-with-klinefelter-syndrome
#10
Laura Zampini, Tiziana Burla, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Faustina Lalatta, Paola Vizziello
Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size...
October 16, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29030589/aberrant-ocular-architecture-and-function-in-patients-with-klinefelter-syndrome
#11
Cristin Brand, Michael Zitzmann, Nicole Eter, Sabine Kliesch, Joachim Wistuba, Maged Alnawaiseh, Peter Heiduschka
Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography)...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#12
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29021279/long-term-fragility-of-y-chromosomes-is-dominated-by-short-term-resolution-of-sexual-antagonism
#13
Heath Blackmon, Yaniv Brandvain
The evolution of heteromorphic sex chromosomes has fascinated biologists, inspiring theoretical models, experimental studies, and studies of genome structure. This work has produced a clear model, in which heteromorphic sex chromosomes result from repeated fixations of inversions (or other recombination suppression mechanisms) that tether sexually antagonistic alleles to sex-determining regions, followed by the degeneration of these regions induced by the lack of sex chromosome recombination in the heterogametic sex...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/28990672/microdissection-testicular-sperm-extraction-in-finland-results-of-the-first-100-patients
#14
Rauni Klami, Harri Mankonen, Antti Perheentupa
INTRODUCTION: Testicular microdissection sperm extraction (MD-TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non-obstructive azoospermia. MD-TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non-obstructive azoospermia have been operated on. MATERIAL AND METHODS: The average age was 33 years at the time of surgery. Forty-eight had a needle biopsy previously, 56% had testicular size less than 15ml...
October 9, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28973759/down-klinefelter-syndrome-48-xxy-21-in-a-neonate-associated-with-congenital-heart-disease
#15
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28960039/hypogonadism-makes-dyslipidemia-in-klinefelter-s-syndrome
#16
Hyo Serk Lee, Chan Woo Park, Joong Shik Lee, Ju Tae Seo
Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28937389/incontinentia-pigmenti-an-x-linked-dominant-disorder-in-a-2-year-old-boy-with-klinefelter-syndrome
#17
Abhilasha Williams, Laxmisha Chandrashekar, Vivi M Srivastava, Meera Thomas, Saban Horo, Renu George
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28902077/hematopoietic-stem-cell-transplantation-for-myelodysplastic-syndrome-in-a-child-with-klinefelter-syndrome
#18
Esra Serdaroğlu, Baris Kuskonmaz, Yasemin Alanay, Selin Aytac, Mualla Cetin, Duygu U Cetinkaya
No abstract text is available yet for this article.
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#19
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#20
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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