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https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#1
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28647870/prothrombotic-genetic-risk-factors-in-patients-with-very-early-st-segment-elevation-myocardial-infarction
#2
Loukianos S Rallidis, Argyri Gialeraki, Georgios Tsirebolos, Stylianos Tsalavoutas, Maria Rallidi, Efstathios Iliodromitis
The contribution of prothrombotic genetic risk factors in the pathogenesis of premature acute myocardial infarction (MI) is controversial. We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). We recruited 255 consecutive patients who had survived a STEMI ≤ 35 years of age (224 men)...
June 24, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28647784/replacing-single-frozen-thawed-euploid-embryos-in-a-natural-cycle-in-ovulatory-women-may-increase-live-birth-rates-compared-to-medicated-cycles-in-anovulatory-women
#3
Alexis P Melnick, Robert Setton, Logan D Stone, Nigel Pereira, Kangpu Xu, Zev Rosenwaks, Steven D Spandorfer
PURPOSE: The goal of this study was to compare pregnancy outcomes between natural frozen embryo transfer (FET) cycles in ovulatory women and programmed FET cycles in anovulatory women after undergoing in vitro fertilization with preimplantation genetic screening (IVF-PGS). METHODS: This was a retrospective cohort study performed at an academic medical center. Patients undergoing single FET IVF-PGS cycles between October 2011 and December 2014 were included. Patients were stratified by type of endometrial replacement: programmed cycles with estrogen/progesterone replacement and natural cycles...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28647780/analysis-of-newly-identified-and-rare-synonymous-genetic-variants-in-the-ret-gene-in-patients-with-medullary-thyroid-carcinoma-in-polish-population
#4
Maria Sromek, Małgorzata Czetwertyńska, Magdalena Tarasińska, Aneta Janiec-Jankowska, Renata Zub, Maria Ćwikła, Dorota Nowakowska, Magdalena Chechlińska
Gain-of-function germline mutations of the RET proto-oncogene are responsible for initiation of carcinogenesis within the thyroid gland and development of hereditary form of medullary thyroid carcinoma and MEN2 syndrome. Genotype-phenotype correlations are established for most RET mutations, but the importance of the synonymous changes in this gene remains debatable. We aimed to analyze RET gene variants in Polish population. Genetic testing for the RET gene variants was performed with standard methods in 585 people aged 1-85, including 448 patients with medullary thyroid carcinoma and 131 of their first- and second-degree relatives, as well as six patients suspected of MTC/MEN2...
June 24, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#5
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28647561/identification-of-a-novel-splicing-mutation-within-slc17a8-in-a-korean-family-with-hearing-loss-by-whole-exome-sequencing
#6
Nari Ryu, Seokwon Lee, Hong-Joon Park, Byeonghyeon Lee, Tae-Jun Kwon, Jinwoong Bok, Chan Ik Park, Kyu-Yup Lee, Jeong-In Baek, Un-Kyung Kim
Hereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans. Because of this heterogeneity, the identification of the causative gene of HHL by linkage analysis or Sanger sequencing have shown economic and temporal limitations. With recent advances in next-generation sequencing (NGS) techniques, rapid identification of a causative gene via massively parallel sequencing is now possible. We recruited a Korean family with three generations exhibiting autosomal dominant inheritance of HL, and the clinical information about this family revealed that there are no other symptoms accompanied with HL...
June 21, 2017: Gene
https://www.readbyqxmd.com/read/28647110/success-of-tardive-electroconvulsive-therapy-sessions-after-loxapine-induced-malignant-syndrome-in-the-context-of-very-poor-metabolisation
#7
Juliette Descoeur, Laurent Philibert, Kevin Chalard, Jérôme Attal, Pierre Petit, Kada Klouche, Mathieu Olivier
We report the success of tardive electroconvulsive therapy in a case of loxapine malignant syndrome with catatonia. Loxapine and its metabolites were measured in biological samples by liquid chromatography coupled to tandem mass spectrometry. Genes were studied by sequencing and quantitative polymerase chain reaction (PCR). Plasmatic drug concentrations showed a supratherapeutic concentration of loxapine with a very low 8-hydroxyloxapine/loxapine ratio (range from 0.32 to 0.66, normal value>2 for 100mg) and a very long elimination half-life of loxapine (half-life>140h, normal value from 1 to 4hours)...
May 29, 2017: Thérapie
https://www.readbyqxmd.com/read/28646840/screening-for-lynch-syndrome-in-cases-with-colorectal-carcinoma-from-mashhad
#8
Ladan Goshayeshi, Alireza Khooiee, Kamran Ghaffarzadegan, Mahla Rahmani Khorram, Faraz Bishehsari, Benyamin Hoseini, Kambiz Akhavan Rezayat, Abbas Esmaeilzadeh, Hooman Mosannen Mozaffari, Omid Ghanayee, S Lari, Ali Bahari, Abolghasem Allahyari, Alireza Bari, Azita Ganji, Lena Goshayeshi, Farnood Rajabzadeh, Jaleh Esmaeili
INTRODUCTION: Lynch Syndrome (LS) is a genetically inherited autosomal disorder that increases the risk of many types of cancer, especially colorectal cancer (CRC). Identifying these subjects improves morbidity and mortality. We aimed to assess the prevalence of LS with both clinical criteria and universal strategy in Mashhad, Iran. METHODS: In this retrospective study, we screened 322 patients with CRC between 2013 and 2016 in Mashhad, Iran. CRCs were screened based on Amsterdam II criteria, revised Bethesda guideline, and universal strategy...
June 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28645806/brugada-syndrome-a-general-cardiologist-s-perspective
#9
REVIEW
Marija M Polovina, Milica Vukicevic, Bojan Banko, Gregory Y H Lip, Tatjana S Potpara
Brugada syndrome (BrS) is one of the commonest inherited primary arrhythmia syndromes typically presenting with arrhythmic syncope or sudden cardiac death (SCD) due to polymorphic ventricular tachycardia and ventricular fibrillation precipitated by vagotonia or fever in apparently healthy adults, less frequently in children. The prevalence of the syndrome (0.01%-0.3%) varies among regions and ethnicities, being the highest in Southeast Asia. BrS is diagnosed by the "coved type" ST-segment elevation≥2mm followed by a negative T-wave in ≥1 of the right precordial leads V1-V2...
June 20, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#10
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#11
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644851/comorbidities-in-the-diseasome-are-more-apparent-than-real-what-bayesian-filtering-reveals-about-the-comorbidities-of-depression
#12
Peter Marx, Peter Antal, Bence Bolgar, Gyorgy Bagdy, Bill Deakin, Gabriella Juhasz
Comorbidity patterns have become a major source of information to explore shared mechanisms of pathogenesis between disorders. In hypothesis-free exploration of comorbid conditions, disease-disease networks are usually identified by pairwise methods. However, interpretation of the results is hindered by several confounders. In particular a very large number of pairwise associations can arise indirectly through other comorbidity associations and they increase exponentially with the increasing breadth of the investigated diseases...
June 23, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#13
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28642604/turning-the-tide-in-myelodysplastic-myeloproliferative-neoplasms
#14
REVIEW
Michael W N Deininger, Jeffrey W Tyner, Eric Solary
Myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) are aggressive myeloid malignancies recognized as a distinct category owing to their unique combination of dysplastic and proliferative features. Although current classification schemes still emphasize morphology and exclusionary criteria, disease-defining somatic mutations and/or germline predisposition alleles are increasingly incorporated into diagnostic algorithms. The developing picture suggests that phenotypes are driven mostly by epigenetic mechanisms that reflect a complex interplay between genotype, physiological processes such as ageing and interactions between malignant haematopoietic cells and the stromal microenvironment of the bone marrow...
June 23, 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28642303/molecular-analysis-of-myelodysplastic-syndrome-with-isolated-del-5q-reveals-a-specific-spectrum-of-molecular-mutations-with-prognostic-impact-a-study-on-123-patients-and-27-genes
#15
Manja Meggendorfer, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach
The only cytogenetic aberration defining a myelodysplastic syndrome subtype is the deletion of the long arm of chromosome 5, giving with morphological features the diagnosis of myelodysplastic syndrome with isolated del(5q). These patients show a good prognosis and respond to treatment such as lenalidomide, but some cases progress to acute myeloid leukemia. However, the molecular mutation pattern is rarely characterized. Therefore, we investigated a large cohort of 123 myelodysplastic syndrome patients with isolated del(5q) diagnosed following the World Health Organization classifications 2008 and 2016 by sequencing 27 genes...
June 22, 2017: Haematologica
https://www.readbyqxmd.com/read/28642162/ngs-panel-analysis-in-24-ectopia-lentis-patients-a-clinically-relevant-test-with-a-high-diagnostic-yield
#16
E Overwater, K Floor, D van Beek, K de Boer, T van Dijk, Y Hilhorst-Hofstee, A J M Hoogeboom, K J van Kaam, J M van de Kamp, M Kempers, I P C Krapels, H Y Kroes, B Loeys, S Salemink, C T R M Stumpel, V J M Verhoeven, E Wijnands-van den Berg, J M Cobben, J P van Tintelen, M M Weiss, A C Houweling, A Maugeri
BACKGROUND: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relatives. Next generation sequencing (NGS) is a powerful tool enabling the simultaneous, highly-sensitive analysis of multiple target genes. OBJECTIVE: The aim of this study was to evaluate the diagnostic yield of our NGS panel in EL patients...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28642064/the-genetic-basis-of-deafness-in-populations-of-african-descent
#17
REVIEW
Jason R Rudman, Rosemary I Kabahuma, Sara E Bressler, Yong Feng, Susan H Blanton, Denise Yan, Xue-Zhong Liu
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations...
May 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28641928/bmpr1a-is-a-major-type-1-bmp-receptor-for-bmp-smad-signaling-during-skull-development
#18
Haichun Pan, Honghao Zhang, Ponnu Abraham, Yoshihiro Komatsu, Karen Lyons, Vesa Kaartinen, Yuji Mishina
Craniosynostosis is caused by premature fusion of one or more sutures in an infant skull, resulting in abnormal facial features. The molecular and cellular mechanisms by which genetic mutations cause craniosynostosis are incompletely characterized, and many of the causative genes for diverse types of syndromic craniosynostosis have not yet been identified. We previously demonstrated that augmentation of BMP signaling mediated by a constitutively active BMP type IA receptor (ca-BmpR1A) in neural crest cells (ca1A hereafter) causes craniosynostosis and superimposition of heterozygous null mutation of Bmpr1a rescues premature suture fusion (ca1A;1aH hereafter)...
June 19, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28641519/neural-stem-cells-and-human-induced-pluripotent-stem-cells-to-model-rare-cns-diseases
#19
Lidia De Filippis, Cristina Zalfa, Daniela Ferrari
Despite the great effort spent over the last decades to unravel the pathological mechanisms underpinning the development of central nervous system disorders, most of them remain still unclear. In particular, the study of rare brain diseases is hurdled by the lack of post-mortem samples and of reliable epidemiological studies, thus the setting of in vitro modeling systems appears essential to dissect the puzzle of genetic and environmental alterations affecting neural cells viability and functionality The isolation and expansion in vitro of embryonic (ESC) and fetal neural stem cells (NSC) from human tissue has efficiently allowed to model several neurological diseases "in a dish" and has also provided a novel platform to test potential therapeutic strategies in a pre-clinical setting...
June 15, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28641515/the-development-of-stem-cell-based-treatment-for-liver-failure
#20
Tiantian Zhu, Yuwen Li, Yusheng Guo, Chuanlong Zhu
Liver failure is a devastating clinical syndrome with a persistently mortality rate despite advanced care. According to the pathological histology, hepatic failure was divided into four categories: acute liver failure (ALF), subacute liver failure (SALF), acute - on - chronic liver failure (ACLF) and chronic liver failure (CLF). Orthotopic liver transplantation protected patients from hepatic failure. Yet, limitations including postoperative complications, high costs, and shortages of donor organs defect its application...
June 15, 2017: Current Stem Cell Research & Therapy
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