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Chondrodysplasia

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https://www.readbyqxmd.com/read/29581481/linked-homozygous-bmpr1b-and-pdha2-variants-in-a-consanguineous-family-with-complex-digit-malformation-and-male-infertility
#1
Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant affecting multiple traits. We detected six sibs afflicted with a unique combination of digit malformation that includes brachydactyly, symphalangism and zygodactyly plus infertility in males owing to azoospermia, sperm immotility or necrospermia, which we hypothesised to have arisen from a defect in a single gene...
March 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29572747/severe-nasomaxillary-hypoplasia-binder-phenotype-on-prenatal-us-mri-an-important-marker-for-the-prenatal-diagnosis-of-chondrodysplasia-punctata
#2
Anna R Blask, Eva I Rubio, Kimberly A Chapman, Anne K Lawrence, Dorothy I Bulas
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017...
March 23, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29534284/displacement-of-an-ununited-medial-humeral-condylar-ossification-centre-in-the-cat
#3
Andy Morris, Kerstin Erles, Thomas W Maddox
A 2-year-old cat was presented with the complaint of acute-onset non-weight-bearing lameness of the right forelimb. When examined, the cat was of short stature and had multiple joint and cartilaginous abnormalities suggestive of chondrodysplasia. The cause of the acute lameness was radiographically identified as a displaced osseous fragment from the medial portion of the right humeral condyle. The features of the osseous fragment were consistent with an ununited medial condylar ossification centre of the distal humerus...
February 2018: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/29522813/paradoxical-roles-of-atf6%C3%AE-and-atf6%C3%AE-in-modulating-disease-severity-caused-by-mutations-in-collagen-x
#4
M Forouhan, K Mori, R P Boot-Handford
Whilst the role of ATF6α in modulating the unfolded protein response (UPR) has been well documented, the function of its paralogue ATF6β is less well understood. Using knockdown in cell culture and gene ablation in mice we have directly compared the roles of ATF6α & β in responding to the increased ER stress induced by mutant forms of type X collagen that cause the ER stress-associated metaphyseal chondrodysplasia type Schmid (MCDS). ATF6α more efficiently deals with the disease-associated ER stress in the absence of ATF6β and conversely, ATF6β is less effective in the absence of ATF6α...
March 6, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29514872/homozygous-chst11-mutation-in-chondrodysplasia-brachydactyly-overriding-digits-clino-symphalangism-and-synpolydactyly
#5
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29511023/loss-of-mob1a-b-in-mice-results-in-chondrodysplasia-due-to-yap1-taz-teads-dependent-repression-of-sox9
#6
Hiroki Goto, Miki Nishio, Yoko To, Tatsuya Oishi, Yosuke Miyachi, Tomohiko Maehama, Hiroshi Nishina, Haruhiko Akiyama, Tak Wah Mak, Yuma Makii, Taku Saito, Akihiro Yasoda, Noriyuki Tsumaki, Akira Suzuki
Hippo signaling is modulated in response to cell density, external mechanical forces, or rigidity of the extracellular matrix (ECM). The Mps one binder kinase activator (MOB) adaptor proteins are core components of Hippo signaling and have important effects on Yes-associated protein-1 (YAP1) and transcriptional co-activator with PDZ-binding motif (TAZ), which are potent transcriptional regulators. YAP1/TAZ are key contributors to cartilage and bone development but the molecular mechanisms by which the Hippo pathway controls chondrogenesis are largely unknown...
March 6, 2018: Development
https://www.readbyqxmd.com/read/29462708/diversity-of-pubertal-development-in-cartilage-hair-hypoplasia-two-illustrative-cases
#7
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Absent pubertal growth spurt and absent pubic hair complicate monitoring of pubertal development in these patients. CASES: Two CHH patients with delayed puberty and excessive growth failure are described. One of the girls had hypogonadotropic hypogonadism while the other had hypo-normogonadotropic hypogonadism with no spontaneous pubertal development and slow response to estrogen therapy, both requiring permanent replacement therapy...
February 17, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29457563/novel-use-of-the-cochlear-%C3%A2-hybrid-ci24reh-cochlear-implant
#8
Yahya Atiya, Mohamed Razwi Ahmed, Dani Schlesinger-Michelow
Cochlear implantation is becoming more widespread. From its early days to date, huge strides have been made in the technology and surgical technique. However, one challenge remains: implanting malformed or abnormal cochleae. Even more challenging is a cochlea that appears normal at first glance, but is not. We present a case of a child with chondrodysplasia punctata, who had apparently morphologically normal inner ears, but with one major obstacle: the cochlea was smaller than normal in all dimensions. To the best of our knowledge, this is the first case described, and the solution is a novel one as well...
May 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/29397290/complex-care-of-individuals-with-multiple-sulfatase-deficiency-clinical-cases-and-consensus-statement
#9
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29354277/a-novel-de-novo-mutation-in-col2a1-leading-to-spondyloepiphyseal-dysplasia-congenita-in-a-chinese-family
#10
Qiuhong Xiong, Yi Liu, Yu Xue, Shichao Liu, Jing Wang, Ping Li, Changxin Wu, Yanling Yang, Han Xiao
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutation in the COL2A1 gene, c.1150G>A (p.Gly384Ser), which may impair protein stability and lead to dysfunction of type II collagen.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29341424/fetal-ultrasonographic-findings-including-cerebral-hyperechogenicity-in-a-patient-with-non-lethal-form-of-raine-syndrome
#11
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29310791/matrilins
#12
Mats Paulsson, Raimund Wagener
Marilins mediate interactions between macromolecular components of the extracellular matrix, e.g., collagens and proteoglycans. They are composed of von Willebrand factor type A and epidermal growth factor-like domains and the subunits oligomerize via coiled-coil domains. Matrilin-1 and -3 are abundant in hyaline cartilage, whereas matrilin-2 and -4 are widespread but less abundant. Mutations in matrilin genes have been linked to chondrodysplasias and osteoarthritis and recently characterization of matrilin-deficient mice revealed novel functions in mechanotransduction, regeneration, or inflammation...
2018: Methods in Cell Biology
https://www.readbyqxmd.com/read/29287114/postnatal-lethality-and-chondrodysplasia-in-mice-lacking-both-chondroitin-sulfate-n-acetylgalactosaminyltransferase-1-and-2
#13
Miki Shimbo, Riku Suzuki, Sayaka Fuseya, Takashi Sato, Katsue Kiyohara, Kozue Hagiwara, Risa Okada, Hiromasa Wakui, Yuki Tsunakawa, Hideto Watanabe, Koji Kimata, Hisashi Narimatsu, Takashi Kudo, Satoru Takahashi
Chondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG) chain. In cartilage, CS plays important roles as the main component of the extracellular matrix (ECM), existing as side chains of the major cartilage proteoglycan, aggrecan. Six glycosyltransferases are known to coordinately synthesize the backbone structure of CS; however, their in vivo synthetic mechanism remains unknown. Previous studies have suggested that two glycosyltransferases, Csgalnact1 (t1) and Csgalnact2 (t2), are critical for initiation of CS synthesis in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/29248929/familial-x-y-translocation-encompassing-arse-in-two-moroccan-siblings-with-sensorineural-deafness
#14
Saadia Amasdl, Wiam Smaili, Abdelhafid Natiq, Amale Hassani, Aziza Sbiti, Aomar Agadr, Damien Sanlaville, Abdelaziz Sefiani
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29244697/occipitocervical-fusion-for-severe-atlantoaxial-dislocation-in-an-underdeveloped-child-with-chondrodysplasia-punctata-a-case-report
#15
Yuki Tanaka, Kei Watanabe, Keiichi Katsumi, Masayuki Ohashi, Keisuke Nagasaki, Toru Hirano
CASE: We present a case of brachytelephalangic chondrodysplasia punctata with a severe atlantoaxial dislocation in an underdeveloped child. The patient underwent halo jacket application using 10 halo pins with <1 lb/in of torque, followed by posterior occipitocervical fusion with onlay rib and iliac autografts. After bone grafts and replacement of the halo ring multiple times, successful osseous fusion had been achieved by the 2-year follow-up. CONCLUSION: Although simple bone-grafting with a halo jacket is useful in underdeveloped patients with skeletal dysplasia, the complications related to halo fixation, including cranial bone perforation, and the patient's neurological status must be carefully monitored...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#16
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29121203/functional-characterization-of-tektin-1-in-motile-cilia-and-evidence-for-tekt1-as-a-new-candidate-gene-for-motile-ciliopathies
#17
Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29068853/neonatal-rhizomelic-chondrodysplasia-punctata-type-1-weaving-evidence-into-clinical-practice
#18
Jessica Landino, Amy J Jnah, Desi M Newberry, Sabine C Iben
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate cartilaginous changes, is essential to guide an appropriate postnatal plan of care. Management strategies are focused toward associated clinical manifestations and require an interdisciplinary approach including ophthalmology, cardiovascular, endocrine, physical and occupational therapy, and neurology...
October 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/29017490/germline-mutation-within-col2a1-associated-with-lethal-chondrodysplasia-in-a-polled-holstein-family
#19
Sina Reinartz, Hartmut Mohwinkel, Christian Sürie, Maren Hellige, Karsten Feige, Deborah Eikelberg, Andreas Beineke, Julia Metzger, Ottmar Distl
BACKGROUND: The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. RESULTS: All three malformed calves were examined using necropsy, histopathology and computed tomography scanning...
October 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28983104/shp2-regulates-the-osteogenic-fate-of-growth-plate-hypertrophic-chondrocytes
#20
Lijun Wang, Jiahui Huang, Douglas C Moore, Chunlin Zuo, Qian Wu, Liqin Xie, Klaus von der Mark, Xin Yuan, Di Chen, Matthew L Warman, Michael G Ehrlich, Wentian Yang
Transdifferentiation of hypertrophic chondrocytes into bone-forming osteoblasts has been reported, yet the underlying molecular mechanism remains incompletely understood. SHP2 is an ubiquitously expressed cytoplasmic protein tyrosine phosphatase. SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. However, the specific role of SHP2 in skeletal cells has not been elucidated. To approach this question, we ablated SHP2 in collagen 2α1(Col2α1)-Cre- and collagen 10α1(Col10α1)-Cre-expressing cells, predominantly proliferating and hypertrophic chondrocytes, using "Cre-loxP"-mediated gene excision...
October 5, 2017: Scientific Reports
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