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Polydactyly

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https://www.readbyqxmd.com/read/28521800/immunogenicity-and-immunomodulatory-effects-of-the-human-chondrocytes-hchonj
#1
Chae-Lyul Lim, Yeon-Ju Lee, Jong-Ho Cho, Heonsik Choi, Bumsup Lee, Myung Chul Lee, Sujeong Kim
BACKGROUND: Invossa™ (TissueGene-C) is a cell and gene therapy for osteoarthritis. It is composed of primary human chondrocytes (hChonJ cells) and irradiated human chondrocytes modified to express TGF-β1 (hChonJb#7 cells). The hChonJ cells were isolated from a polydactyly donor, and TGF-β1 cDNA was delivered to the cells, generating hChonJb#7 cells. Since the cells are allogeneic, the concern of immune response against cells has been raised. In this study, we investigated the immunogenicity of allogenic human chondrocyte, hChonJ cells...
May 18, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28511523/achondroplasia-with-polydactyly-a-case-report
#2
Caroline Frank, Sameeya Shariff, Muddepalle Pavani, Balasubramanian Karthika, Sridhar Thathekalva
An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#3
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#4
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28489934/genetic-pattern-and-gene-localization-of-polydactyly-in-beijing-fatty-chicken
#5
Chuan He, Yongcan Chen, Kaixuan Yang, Zhengxiao Zhai, Wenjing Zhao, Shuyun Liu, Jinmei Ding, Ronghua Dai, Lingyu Yang, Ke Xu, Zhenxiang Zhou, Caiju Gu, Qizhong Huang, He Meng
Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and the determinant gene remain obscure. In this study, different types of polydactylism were classified by the numbers and the shapes of toes, including the newly defined subtypes of B' and G, for the Beijing fatty chicken, a native breed of chicken from China...
2017: PloS One
https://www.readbyqxmd.com/read/28488682/exome-sequencing-revealed-a-splice-site-variant-in-the-iqce-gene-underlying-post-axial-polydactyly-type-a-restricted-to-lower-limb
#6
Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B Haack, Elisabeth Graf, Tim M Strom, Thomas Meitinger, Wasim Ahmad
Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. DNA of two affected members in the family was subjected to exome sequencing. Sanger sequencing was then followed to validate segregation of the variants in the family members...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28487520/an-ovine-hepatorenal-fibrocystic-model-of-a-meckel-like-syndrome-associated-with-dysmorphic-primary-cilia-and-tmem67-mutations
#7
C Stayner, C A Poole, S R McGlashan, M Pilanthananond, R Brauning, D Markie, B Lett, L Slobbe, A Chae, A C Johnstone, C G Jensen, J C McEwan, K Dittmer, K Parker, A Wiles, W Blackburne, A Leichter, M Leask, A Pinnapureddy, M Jennings, J A Horsfield, R J Walker, M R Eccles
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#8
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28400947/mutations-in-ift-a-satellite-core-component-genes-ift43-and-ift121-produce-short-rib-polydactyly-syndrome-with-distinctive-campomelia
#9
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M Jacques, Robert Wallerstein, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow
BACKGROUND: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function...
2017: Cilia
https://www.readbyqxmd.com/read/28396767/prenatal-diagnosis-of-bardet-biedl-syndrome-in-a-case-of-hyperechogenic-kidneys-clinical-use-of-dna-sequencing
#10
Santiago Garcia-Tizon Larroca, Vangeliya Blagoeva Atanasova, Maria Orera Clemente, Anna Aluja Mendez, Virginia Ortega Abad, Ricardo Perez Fernandez-Pacheco, Juan De León Luis, Francisco Gamez Alderete
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28391260/self-amputation-of-the-extra-digit-in-a-fetus-with-polydactyly-first-ultrasound-demonstration
#11
Nicola Volpe, Laura Franchi, Eleonora Mazzone, Costanza Migliavacca, Stefano Raboni, Antonio Percesepe, Christine Tita Kaihura, Tiziana Frusca, Tullio Ghi
We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We demonstrate that there is the detachment of part of the digit, leading to the evidence of a neonatal bump on the site of the prenatal extra digit. This demonstration has been possible by the direct visualization of the remnant by ultrasound...
April 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28379358/loss-of-dynein-2-intermediate-chain-wdr34-results-in-defects-in-retrograde-ciliary-protein-trafficking-and-hedgehog-signaling-in-the-mouse
#12
Chuanqing Wu, Jia Li, Andrew Peterson, Kaixiong Tao, Baolin Wang
The Wdr34 gene encodes an intermediate chain of cytoplasmic dynein 2, the motor for retrograde intraflagellar transport (IFT) in primary cilia. Although mutations in human WDR34 have recently been reported, the association of WDR34 function with Hedgehog (Hh) signaling has not been established, and actual cilia defects in the WDR34 mutant cells have also not been completely characterized. In the present study, we show that Wdr34 mutant mice die in midgestation and exhibit open brain and polydactyly phenotypes...
March 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28374938/diagnostic-use-of-computational-retrotransposon-detection-successful-definition-of-pathogenetic-mechanism-in-a-ciliopathy-phenotype
#13
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency
#14
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In ~30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11-year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28371402/mortality-in-joubert-syndrome
#15
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, Ian A Glass, Hannah M Tully, Dan Doherty
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. We evaluated information on 40 deceased individuals with JS to characterize age and cause of death. We compared this population with 525 living individuals with JS to estimate associations between risk of death and extra-neurological features...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28370949/beemer-langer-syndrome-is-a-ciliopathy-due-to-biallelic-mutations-in-ift122
#16
Karina C Silveira, Carolina A Moreno, Denise P Cavalcanti
Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. IFT122 is a gene that encodes a protein responsible for the retrograde transport along the cilium; it has been associated with this group of skeletal dysplasias...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28370861/girl-with-polydactyly-and-pigmentary-retinopathy
#17
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28370859/girl-with-polydactyly-and-pigmentary-retinopathy
#18
Koushik Tripathy, Rohan Chawla, Subhankar Sarkar
No abstract text is available yet for this article.
April 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28352024/anesthetic-management-of-two-cases-of-bardet-biedl-syndrome-for-renal-transplantation
#19
Kalpana S Vora, Manisha P Modi, Bina P Butala, Veena R Shah
Bardet-Biedl syndrome (BBS) is a multisystem autosomal recessive disorder with clinical and genetic heterogeneity. It is a type of ciliopathy characterized by retinal dystrophy, central obesity, polydactyly, cognitive impairment, and gonadal and renal dysgenesis. It has been suggested that the involved proteins attach to the basal body of ciliated cells making this a disorder of ciliary dysfunction. We report two cases of typical BBS in a 17-year-old female and 29-year-old male patient, who presented for live-related renal transplant...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#20
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
June 15, 2017: Gene
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