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Wolf-Hirschhorn Syndrome

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https://www.readbyqxmd.com/read/28228401/wolf-hirschhorn-syndrome-candidate-1-like-1-epigenetically-regulates-nephrin-gene-expression
#1
Yugo Ito, Kan Katayama, Yukino Nishibori, Yoshihiro Akimoto, Akihiko Kudo, Ryota Kurayama, Ichiro Hada, Shohei Takahashi, Toru Kimura, Toshiyuki Fukutomi, Tomohisa Katada, Junichi Suehiro, Olga Beltcheva, Karl Tryggvason, Kunimasa Yan
Altered expression of nephrin underlies the pathophysiology of proteinuria in both congenital and acquired nephrotic syndrome. However, the epigenetic mechanisms of nephrin gene regulation remain elusive. Here, we show that Wolf-Hirschhorn syndrome candidate 1-like 1 long form (WHSC1L1-L) is a novel epigenetic modifier of nephrin gene regulation. WHSC1L1-L was associated with histone H3K4 and H3K36 in human embryonic kidney cells. WHSC1L1-L gene was expressed in the podocytes and functional protein product was detected in these cells...
February 22, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#2
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28148777/sabotaging-of-the-oxidative-stress-response-by-an-oncogenic-noncoding-rna
#3
Nitin Mahajan, Hua-Jun Wu, Richard L Bennett, Catalina Troche, Jonathan D Licht, Jason D Weber, Leonard B Maggi, Michael H Tomasson
Overexpression of the multiple myeloma set domain (MMSET) Wolf-Hirschhorn syndrome candidate 1 gene, which contains an orphan box H/ACA class small nucleolar RNA, ACA11, in an intron, is associated with several cancer types, including multiple myeloma (MM). ACA11 and MMSET are overexpressed cotranscriptionally as a result of the t(4;14) chromosomal translocation in a subset of patients with MM. RNA sequencing of CD138(+) tumor cells from t(4;14)-positive and -negative MM patient bone marrow samples revealed an enhanced oxidative phosphorylation mRNA signature...
February 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#4
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28000649/single-port-laparoscopic-splenectomy-for-wandering-spleen-with-splenomegaly-in-a-patient-with-wolf-hirschhorn-syndrome
#5
Ricardo Zorron, Silvio Henriques Cunha, Mariana Caetano Barreto, Henrique Neubarth Phillips
Wolf-Hirschhorn syndrome is a rare genetic condition characterized by typical facial appearance, growth delay, psychomotor retardation and seizures, with a mosaic of other abnormalities reported in the literature. The occurrence of symptomatic wandering spleen with massive splenomegaly and with an indication for splenectomy has not been yet described for this disease. This study reports the first case in the literature of single port splenectomy for this rare condition. In a 21-year-old female patient with Wolf-Hirschhorn syndrome, with abdominal pain and the diagnosis of wandering spleen with splenomegaly (25 cm diameter) led to an indication of elective splenectomy...
December 21, 2016: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/27994945/early-postnatal-seizures-in-a-neonate-with-wolf-hirschhorn-syndrome
#6
Hayato Go, Kentaro Haneda, Hajime Maeda, Kei Ogasawara, Takashi Imamura, Nobuo Momoi, Mitsuaki Hosoya
Background Wolf-Hirschhorn syndrome (WHS), which is characterized by a typical facial appearance, growth retardation, mental retardation, seizures, and congenital cardiac defects, has an estimated incidence of 1 per 50,000 births. Case We report a case of a low birth weight neonate with WHS and seizures, as well as persistent pulmonary hypertension in the early neonatal period. Apgar scores were 6 (1 minute) and 8 (5 minutes) with evident retraction. After admission to the neonatal intensive care unit, the patient had tonic-clonic seizures with epilepticus 30 minute after birth...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27777068/exploring-the-developmental-mechanisms-underlying-wolf-hirschhorn-syndrome-evidence-for-defects-in-neural-crest-cell-migration
#7
REVIEW
Erin L Rutherford, Laura Anne Lowery
Wolf-Hirschhorn Syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying sizes and microduplications. Many of these genotypic aberrations in humans have been correlated with the classic WHS phenotype, and animal models have provided a context for mapping these genetic irregularities to specific phenotypes; however, there remains a significant knowledge gap concerning the cell biological mechanisms underlying these phenotypes...
December 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27752382/airway-management-in-a-patient-with-wolf-hirschhorn-syndrome
#8
John F Gamble, Dinesh J Kurian, Andrea G Udani, Nathaniel H Greene
We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27669901/leucine-zipper-ef-hand-containing-transmembrane-protein-1-letm1-forms-a-ca-2-h-antiporter
#9
Juan Shao, Zhenglin Fu, Yanli Ji, Xiangchen Guan, Shang Guo, Zhanyu Ding, Xue Yang, Yao Cong, Yuequan Shen
Leucine zipper-EF-hand-containing transmembrane protein1 (LETM1) is located in the mitochondrial inner membrane and is defective in Wolf-Hirschhorn syndrome. LETM1 contains only one transmembrane helix, but it behaves as a putative transporter. Our data shows that LETM1 knockdown or overexpression robustly increases or decreases mitochondrial Ca(2+) level in HeLa cells, respectively. Also the residue Glu221 of mouse LETM1 is identified to be necessary for Ca(2+) flux. The mutation of Glu221 to glutamine abolishes the Ca(2+)-transport activity of LETM1 in cells...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27645370/ep10-23-application-of-3d-ultrasonography-in-analysis-of-fetal-anomalies-in-wolf-hirschhorn-syndrome
#10
Z Jurisic, A Jurisic, D Dinic, S Jankovic Raznatovic
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27610251/ring-chromosome-4-in-a-child-with-multiple-congenital-abnormalities-a-case-report-and-review-of-the-literature
#11
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27504263/wolf-hirschhorn-4p-syndrome-with-west-syndrome
#12
Hirotaka Motoi, Tohru Okanishi, Sotaro Kanai, Takuya Yokota, Tomohiro Yamazoe, Mitsuyo Nishimura, Ayataka Fujimoto, Takamichi Yamamoto, Hideo Enoki
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27501084/a-genotype-phenotype-correlation-study-reveals-that-a-non-coding-rna-might-be-associated-with-cardiovascular-anomalies-in-fetuses-with-whs
#13
Yi Wu, Jiong Tao, Yan-Lin Wang, Wen-Jing Hu, Xu Han, Wei-Wei Cheng
No abstract text is available yet for this article.
October 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27455007/-a-case-of-wolf-hirschhorn-syndrome-diagnosed-by-single-nucleotide-polymorphism-array
#14
Yuxia Jin, Xia Liu, Suping Li, Chiyan Zhou, Xiaodan Liu, Qinhao Song, Luming Wang, Zhengyou Miao
OBJECTIVE: To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype. METHODS: G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH). RESULTS: G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27256438/-prenatal-diagnosis-of-chromosome-abnormalities-and-nine-microdeletion-syndromes-using-both-traditional-karyotyping-and-bobs
#15
X H Tang, B C Yang, S Zhu, J Su, J M Zhang, Y F Yin, Y Feng, D M Li, Q F Zhao, R Yu, B S Zhu
OBJECTIVE: To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. METHODS: From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis...
May 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/27203859/-the-wolf-hirschhorn-syndrome
#16
U Friebe-Hoffmann, F Reister, H Gaspar, H Hummler, W Lindner, K Lato
Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/26960370/analyses-of-genotypes-and-phenotypes-of-ten-chinese-patients-with-wolf-hirschhorn-syndrome-by-multiplex-ligation-dependent-probe-amplification-and-array-comparative-genomic-hybridization
#17
Wen-Xu Yang, Hong Pan, Lin Li, Hai-Rong Wu, Song-Tao Wang, Xin-Hua Bao, Yu-Wu Jiang, Yu Qi
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). METHODS: Clinical information was collected from ten patients with WHS...
March 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/26937776/diagnostics-of-common-microdeletion-syndromes-using-fluorescence-in-situ-hybridization-single-center-experience-in-a-developing-country
#18
Amina Kurtovic-Kozaric, Lejla Mehinovic, Meliha Stomornjak-Vukadin, Ilvana Kurtovic-Basic, Feriha Catibusic, Mirza Kozaric, Senka Mesihovic-Dinarevic, Mensuda Hasanhodzic, Darinka Glamuzina
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period...
March 3, 2016: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/26927259/detection-of-recurrent-4p16-3-microdeletion-with-2p25-3-microduplication-by-multiplex-ligation-dependent-probe-amplification-and-array-comparative-genomic-hybridization-in-a-fetus-from-a-family-with-wolf-hirschhorn-syndrome
#19
Wen-Xu Yang, Hong Pan, Song-Tao Wang, Lin Li, Hai-Rong Wu, Yu Qi
OBJECTIVE: We present prenatal diagnosis, genetic counseling, and molecular cytogenetic features of familial recurrence of Wolf-Hirschhorn syndrome (WHS). MATERIALS AND METHODS: A 31-year-old woman was referred to a hospital at 24 weeks of gestation because of abnormal ultrasound findings in the fetus. Her first child was a boy who had growth retardation, mental defect, and a distinctive facial appearance. Based on the conventional cytogenetic analysis, the combined use of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH) facilitated the prenatal diagnosis and genetic counseling in the fetus...
February 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26833920/identification-of-copy-number-variations-associated-with-congenital-heart-disease-by-chromosomal-microarray-analysis-and-next-generation-sequencing
#20
Xiangyu Zhu, Jie Li, Tong Ru, Yaping Wang, Yan Xu, Ying Yang, Xing Wu, David S Cram, Yali Hu
OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD: Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq)...
April 2016: Prenatal Diagnosis
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