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"Chromosomal disorders"

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https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#1
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29193652/decisions-about-aneuploidy-screening-why-women-s-reasons-are-important
#2
Dafina Petrova, Rocio Garcia-Retamero
Several tests exist that can help detect Down syndrome and other chromosomal disorders during the first weeks of pregnancy. Non-invasive prenatal testing (NIPT) is gaining popularity because of its improved accuracy over traditional screening methods and its improved safety compared to invasive tests that carry some risk of miscarriage. In a recent study conducted in Hong Kong, Cheng et al. recruited women at high or intermediate risk of Down syndrome according to their 1st or 2nd trimester screening. This article is protected by copyright...
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29193639/oligonephronia-and-wolf-hirschhorn-syndrome-a-further-observation
#3
Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m2 , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (UP /UCr ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids...
November 28, 2017: American Journal of Medical Genetics. Part A
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/29174080/patterns-of-care-at-the-end-of-life-for-children-and-young-adults-with-life-threatening-complex-chronic-conditions
#5
Danielle D DeCourcey, Melanie Silverman, Adeolu Oladunjoye, Emily M Balkin, Joanne Wolfe
OBJECTIVE: To characterize patterns of care at the end of life for children and young adults with life-threatening complex chronic conditions (LT-CCCs) and to compare them by LT-CCC type. STUDY DESIGN: Cross-sectional survey of bereaved parents (n = 114; response rate of 54%) of children with noncancer, noncardiac LT-CCCs who received care at a quaternary care children's hospital and medical record abstraction. RESULTS: The majority of children with LT-CCCs died in the hospital (62...
November 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29128491/screening-for-fetal-chromosomal-and-subchromosomal-disorders
#6
REVIEW
Sarah Harris, Dallas Reed, Neeta L Vora
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders...
November 8, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29107344/faithful-artificial-chromosome-propagation-using-spermatogonial-stem-cells
#7
M Yamada, M Seandel
Artificial chromosomes are useful in making functional vectors for very large genes, studying chromosome physiology, and modeling chromosomal disorders. Shinohara et al. have succeeded for the first time in creating transchromosomic mice by manipulating spermatogonial stem cells (SSCs), which exhibited superior chromosomal stability compared with embryonic stem cells (ESCs).
October 26, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29046733/mosaic-genome-wide-maternal-isodiploidy-an-extreme-form-of-imprinting-disorder-presenting-as-prenatal-diagnostic-challenge
#8
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F Barth, Reiner Siebert
BACKGROUND: Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. RESULTS: We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29037562/dandy-walker-syndrome-with-duplex-kidney-abnormalities-in-trisomy-18-a-rare-case-report
#9
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29030589/aberrant-ocular-architecture-and-function-in-patients-with-klinefelter-syndrome
#10
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
#11
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/28993310/rodent-models-in-down-syndrome-research-impact-and-future-opportunities
#12
REVIEW
Yann Herault, Jean M Delabar, Elizabeth M C Fisher, Victor L J Tybulewicz, Eugene Yu, Veronique Brault
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse models with Down-syndrome-related features has been developed to understand this complex human chromosomal disorder. These mouse models have been important for determining genotype-phenotype relationships and identification of dosage-sensitive genes involved in the pathophysiology of the condition, and in exploring the impact of the additional chromosome on the whole genome. Mouse models of Down syndrome have also been used to test therapeutic strategies...
October 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28982711/sudden-death-after-febrile-seizure-case-report-cerebral-suppression-precedes-severe-bradycardia
#13
Kenneth A Myers, Robyn E McPherson, Robin Clegg, Jeffrey Buchhalter
A 20-month-old girl with a complex chromosomal disorder had first presentation of febrile status epilepticus and was admitted to the hospital. Two days after her initial seizure, she died suddenly and unexpectedly during a video EEG monitoring study. An advanced analysis of the physiologic changes in the hours and minutes leading up to death was undertaken. The electrocardiography over the last 19 minutes of life was reviewed, and the R-R intervals were manually measured. Heart rate variability was assessed through calculation of the SD of the R-R intervals and the root mean square of successive differences over successive 100 beat periods...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/28965985/dysfunctions-of-mitochondria-in-close-association-with-strong-perturbation-of-long-noncoding-rnas-expression-in-down-syndrome
#14
Jia-Jun Qiu, Yan-Na Liu, Zhao-Rui Ren, Jing-Bin Yan
Trisomy 21 is the most common chromosomal disorder and underlies Down syndrome. Epigenetics, such as DNA methylation and post-translational histone modifications, plays a vital role in Down syndrome. However, the functions of epigenetics-related long noncoding RNAs (lncRNAs), found to have an impact on neural diseases such as Alzheimer's disease, remain unknown in Down syndrome. In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs...
November 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28948513/chromosomal-disorders-estimating-baseline-birth-prevalence-and-pregnancy-outcomes-worldwide
#15
Sowmiya Moorthie, Hannah Blencowe, Matthew W Darlison, Stephen Gibbons, Joy E Lawn, Pierpaolo Mastroiacovo, Joan K Morris, Bernadette Modell
Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide...
September 26, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28937887/characteristics-and-associated-comorbidities-of-pediatric-dental-patients-treated-under-general-anesthesia
#16
Alexandra Delfiner, Aaron Myers, Christie Lumsden, Steve Chussid, Richard Yoon
OBJECTIVE: To describe characteristics and identify common comorbidities of children receiving dental treatment under general anesthesia at Children's Hospital of New York-Presbyterian. STUDY DESIGN: Electronic medical records of all children that received dental treatment under general anesthesia through the Division of Pediatric Dentistry from 2012-2014 were reviewed. Data describing patient characteristics (age, sex, race/ethnicity, insurance carrier, and American Society of Anesthesiologists physical status classification system), medical history, and justification for treatment were collected...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#17
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
https://www.readbyqxmd.com/read/28874128/relationship-of-genetic-causes-and-inhibin-b-in-non-obstructive-azoospermia-spermatogenic-failure
#18
Qing-Jun Chu, Rui Hua, Chen Luo, Qing-Jie Chen, Biao Wu, Song Quan, Yong-Tong Zhu
BACKGROUND: Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA. METHODS: In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. The level of follicle stimulating hormone (FSH), inhibin B, Y chromosome microdeletion test (YCMD) and karyotype were measured...
September 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28858551/the-anesthetic-management-for-a-patient-with-trisomy-13
#19
Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama
Trisomy 13 is a chromosomal disorder that occurs in complete or partial mosaic forms. It is characterized by central apnea, mental retardation, seizure and congenital heart disease. The survival of the patients with trisomy 13 is the majority dying before one month. Trisomy 13 is the worst life prognosis among all trisomy syndromes. It is reported the cause of death is central apnea. Special needs patients with mental retardation are recognized to have poorer oral health condition. Oral health related quality of life reflects daily activity and well-being...
December 0: Anesthesia Progress
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#20
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
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