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Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, Hart G Lidov
INTRODUCTION: The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function, and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumors, however no systematic evaluation of CNS embryonal tumors was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumor, and we hypothesized that PHOX2B immunostain would be helpful establishing the diagnosis...
May 14, 2018: Histopathology
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
Asuka Morikawa, Tomoatsu Hayashi, Mana Kobayashi, Yuki Kato, Katsuhiko Shirahige, Takehiko Itoh, Mitsuyoshi Urashima, Aikou Okamoto, Tetsu Akiyama
Ovarian clear cell carcinoma (OCCC) is a chemotherapy‑resistant epithelial ovarian cancer with poor prognosis. To identify genomic alterations involved in the development of OCCC, we analyzed somatic copy number alterations in OCCC using comparative genomic hybridization (CGH). Here we showed that the chromosomal regions 8p11.21, 8p11.22, 12p13.31 and 20q13.2 were amplified in OCCC. We also demonstrated that small segments in the chromosomal regions 3q26.1, 4q13.2 and 22q11.23 were deleted. Kaplan‑Meier survival analyses revealed that patients with amplification within 8p11...
May 8, 2018: Oncology Reports
A Orsini, A Bonuccelli, P Striano, A Azzara, G Costagliola, R Consolini, D G Peroni, A Valetto, V Bertini
Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
April 26, 2018: Seizure: the Journal of the British Epilepsy Association
Dong-Wook Kim, Yoon-Hyuk Lee, Young-Ho Seo
A huge amount of computation is required to generate a hologram using a computer. In order to speed up the computer-generated-hologram (CGH) operation, we use a parallel programming technique using a general purpose graphic processing unit (GPGPU). In this paper, we propose three techniques to improve CGH performance in the condition using GPU. The first is to remove the memory bottleneck by allocating shared memory and a dedicated thread for this process, and the second is to optimize the block allocation within the GPU using a hologram pixel-based method...
May 1, 2018: Applied Optics
Ivan H Yoshida, Monise Santos, Caroline Z Berton, Caroline L Chiarella, Michelli S Tanada, Emerson BCordts, Waldemar P de Carvalho, Caio P Barbosa
OBJECTIVE: Euploid embryo transfers yield better implantation rates. In Brazil, morphological evaluation is performed to select the best embryos, since genetic analysis is still an expensive procedure. This study aimed to evaluate whether there is an association between trophectoderm morphology and ploidy status. METHODS: The study included 113 blastocysts formed in D5/D6 from 58 in vitro fertilization cycles held from January/2016 to May/2017. All patients with indication for PGD/PGS were included in the study...
May 3, 2018: JBRA Assisted Reproduction
Jacob S Ankeny, Brian Labadie, Jason Luke, Eddy Hsueh, Jane Messina, Jonathan S Zager
Melanoma is an aggressive cutaneous malignancy with rapidly rising incidence. Diagnosis of controversial melanocytic lesions, correct prognostication of patients, selection of appropriate adjuvant and systemic therapies, and prediction of response to a given therapy remain very real challenges. Despite these challenges, multiple high throughput, nucleic-acid based biomarkers have been developed that can be assayed from histologic tissue specimens. FISH, CGH, Decision-Dx, and other multi-marker assays have been combined to improve overall predictability...
May 2, 2018: Clinical & Experimental Metastasis
Ioannis A Sfontouris, George T Lainas, Tryfon G Lainas, Efthimios Faros, Maria Banti, Katerina Kardara, Katerina Anagnostopoulou, Harris Kontos, George K Petsas, Efstratios M Kolibianakis
The presence of smooth endoplasmic reticulum aggregates (SERa) in the ooplasm is considered as the most severe oocyte dysmorphism due to its serious and potentially lethal outcomes in offspring. In the present case report, a couple underwent their first intracytoplasmic sperm injection (ICSI) cycle using a gonadotrophin releasing hormone (GnRH) antagonist protocol, followed by fetal ultrasound scanning and amniocentesis. SERa were observed in all oocytes retrieved. A singleton pregnancy was established. The second trimester fetal ultrasound scan revealed a female fetus with overlapping fingers in both hands, and amniocentesis was performed for the detection of chromosomal abnormalities...
May 2, 2018: Systems Biology in Reproductive Medicine
Peng Sun, Shengqian Chang, Siqi Liu, Xiao Tao, Chang Wang, Zhenrong Zheng
In this paper, a method is proposed to implement noises reduced three-dimensional (3D) holographic near-eye display by phase-only computer-generated hologram (CGH). The CGH is calculated from a double-convergence light Gerchberg-Saxton (GS) algorithm, in which the phases of two virtual convergence lights are introduced into GS algorithm simultaneously. The first phase of convergence light is a replacement of random phase as the iterative initial value and the second phase of convergence light will modulate the phase distribution calculated by GS algorithm...
April 16, 2018: Optics Express
Boaz Jessie Jackin, Shinpei Watanabe, Kanemitsu Ootsu, Takeshi Ohkawa, Takashi Yokota, Yoshio Hayasaki, Toyohiko Yatagai, Takanobu Baba
A parallel computation method for large-size Fresnel computer-generated hologram (CGH) is reported. The method was introduced by us in an earlier report as a technique for calculating Fourier CGH from 2D object data. In this paper we extend the method to compute Fresnel CGH from 3D object data. The scale of the computation problem is also expanded to 2 gigapixels, making it closer to real application requirements. The significant feature of the reported method is its ability to avoid communication overhead and thereby fully utilize the computing power of parallel devices...
April 20, 2018: Applied Optics
Mark A Rubin, Francesca Demichelis
The genomics of prostate cancer (PCA) has been difficult to study compared with some other cancer types for a multitude of reasons, despite significant efforts since the early 1980s. Overcoming some of these obstacles has paved the way for greater insight into the genomics of PCA. The advent of high-throughput technologies coming from the initial use of microsatellite and oligonucleotide probes gave rise to techniques like comparative genomic hybridization (CGH). With the introduction of massively parallel genomic sequencing, referred to as next-generation sequencing (NGS), a deeper understanding of cancer genomics in general has occurred...
April 30, 2018: Cold Spring Harbor Perspectives in Medicine
Schaida Schirwani, Emma Wakeling, Kath Smith, Meena Balasubramanian
Pathogenic variants in Zinc Finger DHHC-Type Containing 9 (ZDHHC9) gene have been identified as the cause of X-linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in ZDHHC9 in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in ZDHHC9, and one family with intragenic deletion within ZDHHC9 detected by array CGH. Although initial reports of families with ZDHHC9 pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism...
May 2018: American Journal of Medical Genetics. Part A
Marcela Cavalcante de Andrade Silva, Ana Cristina Victorino Krepischi, Leslie Domenici Kulikowski, Evelin Aline Zanardo, Luciana Nardinelli, Aline Medeiros Leal, Silvia Souza Costa, Nair Hideki Muto, Vanderson Rocha, Elvira Deolinda Rodrigues Pereira Velloso
Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding...
April 2018: Cancer Genetics
Elisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel H Elcioglu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli, Cristina Gervasini, Vanna Pecile, Lidia Larizza
Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic RECQL4 variants by in silico predictions and transcripts analyses. Complete phenotype of patients #39 and #42 whose affected siblings developed osteosarcoma correlates with their c.[1048_1049del], c.[1878+32_1878+55del] and c...
April 6, 2018: International Journal of Molecular Sciences
Samara Arkani, Jia Cao, Johanna Lundin, Daniel Nilsson, Thomas Källman, Gillian Barker, Gundela Holmdahl, Christina Clementsson Kockum, Hans Matsson, Agneta Nordenskjöld
Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concordance rates in monozygotic twins and several associated chromosomal aberrations. Recently, the ISL1 gene was presented as a candidate gene for bladder exstrophy and epispadias complex (BEEC) development in two different studies. In our study, we screened for genetic variants in the ISL1 gene in DNA from 125 Swedish patients using Sanger sequencing and array-CGH analysis...
2018: Human Genome Variation
Kousei Miura, Masao Koda, Hideki Kadone, Shigeki Kubota, Yukiyo Shimizu, Hiroshi Kumagai, Katsuya Nagashima, Kentaro Mataki, Kengo Fujii, Hiroshi Noguchi, Toru Funayama, Tetsuya Abe, Yoshiyuki Sankai, Masashi Yamazaki
Dropped head syndrome (DHS) is characterized by a chin-on-chest deformity, which can severely interfere with forward vision and impair activities of daily living. A standardized treatment strategy for DHS has not been established. To our knowledge, this is the first case report describing the efficacy of gait training using a hybrid assistive limb (HAL) for DHS. A 75-year-old man showed apparent head drop in a standing position, resulting in passively reducible chin-on-chest deformity. A radiograph image showed apparent cervical kyphosis...
March 31, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Qinglian Tang, Jinchang Lu, Changye Zou, Yang Shao, Yan Chen, Swami Narala, Hui Fang, Huaiyuan Xu, Jin Wang, Jingnan Shen, Rama Khokha
The era of cancer genomics now provides an opportunity to discover novel determinants of osteosarcoma (OS), the most common primary bone cancer in children and adolescents known for its poor prognosis due to lung metastasis. Here, we identify CDH4 amplification in 43.6% of human osteosarcoma using array CGH and demonstrate its critical role in osteosarcoma development and progression. Gain or loss-of-function of CDH4, which encodes R-cadherin, causally impacts multiple features of human OS cells including cell migration and invasion, osteogenic differentiation, and stemness...
April 3, 2018: Oncogene
Natália Lourenço de Freitas, Ahmed Basheer Hamid Al-Rikabi, Luiz Antonio Carlos Bertollo, Tariq Ezaz, Cassia Fernanda Yano, Ezequiel Aguiar de Oliveira, Terumi Hatanaka, Marcelo de Bello Cioffi
Background: Species with 'young' or nascent sex chromosomes provide unique opportunities to understand early evolutionary mechanisms (e.g. accumulation of repetitive sequences, cessation of recombination and gene loss) that drive the evolution of sex chromosomes. Among vertebrates, fishes exhibit highly diverse and a wide spectrum of sex-determining mechanisms and sex chromosomes, ranging from cryptic to highly differentiated ones, as well as, from simple to multiple sex chromosome systems...
April 2018: Current Genomics
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