119 results match your criteria SEMD

Successful metabolic control in diabetes type 1 depends on individual neuroeconomic and health risk-taking decision endophenotypes: a new target in personalized care.

Psychol Med 2021 Mar 18:1-9. Epub 2021 Mar 18.

Coimbra Institute for Biomedical Imaging and Translational Research, CIBIT/ICNAS, University of Coimbra, Portugal.

Background: Neurobehavioral decision profiles have often been neglected in chronic diseases despite their direct impact on major public health issues such as treatment adherence. This remains a major concern in diabetes, despite intensive efforts and public awareness initiatives regarding its complications. We hypothesized that high rates of low adherence are related to risk-taking profiles associated with decision-making phenotypes. Read More

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

J Bone Miner Res 2021 Feb 13;36(2):283-297. Epub 2020 Oct 13.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses. Here we report on four unrelated families with SEMD in which we identified two monoallelic missense variants and one monoallelic splice site variant in RPL13, encoding the ribosomal protein eL13. In two out of four families, we observed autosomal dominant inheritance with incomplete penetrance and variable clinical expressivity; the phenotypes of the mutation-positive subjects ranged from normal height with or without hip dysplasia to severe SEMD with severe short stature and marked skeletal dysplasia. Read More

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February 2021

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Mol Biol Rep 2020 Sep 4;47(9):7083-7088. Epub 2020 Sep 4.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation. It is characterized by a progressive spondyloepimetaphyseal dysplasia (SEMD) with disproportionate short stature, generalized platyspondyly and lacy iliac crest. Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner. Read More

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September 2020

Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report.

Spine Surg Relat Res 2020 3;4(3):284-286. Epub 2019 Dec 3.

Department of Orthopaedic Surgery, Dokkyo Medical University School of Medicine, Shimotsuga, Japan.

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December 2019

Long-term Outcomes of Per-oral Endoscopic Myotomy in Spastic Esophageal Motility Disorders: A Large, Single-Center Study.

J Clin Gastroenterol 2020 Jul 10. Epub 2020 Jul 10.

Asian Institute of Gastroenterology, Hyderabad, India.

Background And Aims: Spastic esophageal motility disorders (SEMD) are a rare group of motility disorders including type III achalasia, distal esophageal spasm (DES), and Jackhammer esophagus (JHE). Limited data suggest that per-oral endoscopic myotomy (POEM) may be effective in these disorders. In this study, we aimed to evaluate the long-term outcomes of POEM in SEMD. Read More

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A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.

Eur J Med Genet 2020 Aug 26;63(8):103958. Epub 2020 May 26.

School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan. Electronic address:

Spondylo-epimetaphyseal dysplasia Matrilin 3 type (SEMD) is a rare autosomal recessive skeletal dysplasia characterized by short stature, abnormalities in the vertebral bodies and long bones, especially the lower limbs. We enrolled a consanguineous family from Pakistan in which multiple siblings suffered from severe skeletal dysplasia. The six affected subjects ranged in heights from 100 to 136 cm (~-6 standard deviation). Read More

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Event-Based Eccentric Motion Detection Exploiting Time Difference Encoding.

Front Neurosci 2020 8;14:451. Epub 2020 May 8.

Event Driven Perception for Robotics, Italian Institute of Technology, iCub Facility, Genoa, Italy.

Attentional selectivity tends to follow events considered as interesting stimuli. Indeed, the motion of visual stimuli present in the environment attract our attention and allow us to react and interact with our surroundings. Extracting relevant motion information from the environment presents a challenge with regards to the high information content of the visual input. Read More

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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Bone Rep 2020 Jun 11;12:100245. Epub 2020 Jan 11.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.

Introduction: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms.

Methodology And Results: Two relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD. Read More

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Accuracy of cardiac ablation catheter guidance by means of a single equivalent moving dipole inverse algorithm to identify sites of origin of cardiac electrical activation.

J Interv Card Electrophysiol 2020 Sep 27;58(3):323-331. Epub 2019 Aug 27.

Institute for Medical Engineering and Science, Massachusetts Institute of Technology, 45 Carleton Street, Room E25-324, Cambridge, MA, 02142, USA.

We have developed a system that could potentially be used to identify the site of origin of ventricular tachycardia (VT) and to guide a catheter to that site to deliver radio-frequency ablation therapy. This system employs the Inverse Solution Guidance Algorithm based upon Single Equivalent Moving Dipole (SEMD) localization method. The system was evaluated in in vivo swine experiments. Read More

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September 2020

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Hum Mutat 2019 03 21;40(3):299-309. Epub 2018 Dec 21.

Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium.

Spondyloepimetaphyseal dysplasias (SEMD) are a group of genetically heterogeneous skeletal disorders characterized by abnormal vertebral bodies and epimetaphyseal abnormalities. We investigated two families with a new SEMD type with one proband each. They showed mild facial dysmorphism, flat vertebral bodies (platyspondyly), large epiphyses, metaphyseal dysplasia, and hallux valgus as common clinical features. Read More

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Spiking Elementary Motion Detector in Neuromorphic Systems.

Neural Comput 2018 09 18;30(9):2384-2417. Epub 2018 Jul 18.

Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany, and Cognitive Interaction Technology, Center of Excellence, Bielefeld University, 33501 Bielefeld, Germany

Apparent motion of the surroundings on an agent's retina can be used to navigate through cluttered environments, avoid collisions with obstacles, or track targets of interest. The pattern of apparent motion of objects, (i.e. Read More

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September 2018

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Hum Mol Genet 2018 10;27(20):3475-3487

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Proteoglycans are among the most abundant and structurally complex biomacromolecules and play critical roles in connective tissues. They are composed of a core protein onto which glycosaminoglycan (GAG) side chains are attached via a linker region. Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either spondyloepimetaphyseal dysplasia (SEMD) or a severe pleiotropic form of Ehlers-Danlos syndromes (EDS). Read More

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October 2018

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.

Clin Genet 2018 06 15;93(6):1148-1158. Epub 2018 Mar 15.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Read More

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Epidemiology from Tweets: Estimating Misuse of Prescription Opioids in the USA from Social Media.

J Med Toxicol 2017 12 22;13(4):278-286. Epub 2017 Aug 22.

Division of Medical Toxicology, The Icahn School of Medicine, New York, NY, USA.

Background: The misuse of prescription opioids (MUPO) is a leading public health concern. Social media are playing an expanded role in public health research, but there are few methods for estimating established epidemiological metrics from social media. The purpose of this study was to demonstrate that the geographic variation of social media posts mentioning prescription opioid misuse strongly correlates with government estimates of MUPO in the last month. Read More

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December 2017

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

J Hum Genet 2017 Aug 23;62(8):797-801. Epub 2017 Mar 23.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Read More

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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Am J Med Genet A 2017 Apr;173(4):1102-1108

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p. Read More

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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

J Clin Invest 2017 Apr 6;127(4):1475-1484. Epub 2017 Mar 6.

Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c. Read More

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A Signal Processing Approach with a Smooth Empirical Mode Decomposition to Reveal Hidden Trace of Corrosion in Highly Contaminated Guided Wave Signals for Concrete-Covered Pipes.

Sensors (Basel) 2017 Feb 7;17(2). Epub 2017 Feb 7.

Department of Systems Engineering and Engineering Management, City University of Hong Kong, Tat Chee Avenue, Kowloon, Hong Kong, China.

Ultrasonic guided waves have been extensively applied for non-destructive testing of plate-like structures particularly pipes in past two decades. In this regard, if a structure has a simple geometry, obtained guided waves' signals are easy to explain. However, any small degree of complexity in the geometry such as contacting with other materials may cause an extra amount of complication in the interpretation of guided wave signals. Read More

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February 2017

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Am J Med Genet A 2017 Mar 26;173(3):733-739. Epub 2016 Nov 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. Read More

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Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis.

Ethiop J Health Sci 2016 Jul;26(4):397-400

Department of Pyhisical Therapy and Rehabilitation, Cinarcik State Hospital, Yalova, Turkey.

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo-epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions. Read More

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Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.

E M Honey

S Afr Med J 2016 May 25;106(6 Suppl 1):S54-6. Epub 2016 May 25.

Department of Genetics, Faculty of Agriculture and Natural Science, University of Pretoria, South Africa.

Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in the B3GALT6 gene have been incriminated. Read More

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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Am J Hum Genet 2016 06 26;98(6):1243-1248. Epub 2016 May 26.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Electronic address:

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Read More

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Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Clin Genet 2017 01 2;91(1):30-37. Epub 2016 Jun 2.

Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.

In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel syndrome with probably X-linked recessive inheritance and unknown molecular defect (MIM 300232). Our purpose was to search for the causative defect in the originally described family and in an independently ascertained second family. All patients had slowly progressive neurodegeneration with central and peripheral involvement and identical skeletal dysplasia. Read More

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January 2017

On the efficiency and accuracy of the single equivalent moving dipole method to identify sites of cardiac electrical activation.

Med Biol Eng Comput 2016 Oct 22;54(10):1611-9. Epub 2016 Jan 22.

Cardiovascular Research Center, Massachusetts General Hospital, 149 13th Street, Charlestown, Boston, MA, 02129, USA.

We have proposed an algorithm to guide radiofrequency catheter ablation procedures. This algorithm employs the single equivalent moving dipole (SEMD) to model cardiac electrical activity. The aim of this study is to investigate the optimal time instant during the cardiac cycle as well as the number of beats needed to accurately estimate the location of a pacing site. Read More

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October 2016

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Eur J Hum Genet 2016 08 16;24(8):1206-10. Epub 2015 Dec 16.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncharacterized SEMD with laxity and dislocations. This condition has clinical overlap with autosomal dominantly inherited SEMD with joint laxity, leptodactylic type caused by recurrent missense variants in the kinesin family member 22 gene (KIF22). Single-nucleotide polymorphism array analysis and whole-exome sequencing in the two affected siblings revealed a shared homozygous nonsense variant [c. Read More

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Semiempirical Molecular Dynamics (SEMD) I: Midpoint-Based Parallel Sparse Matrix-Matrix Multiplication Algorithm for Matrices with Decay.

J Chem Theory Comput 2015 Jul 17;11(7):3145-52. Epub 2015 Jun 17.

IBM Research-Zurich, Säumerstrasse 4, 8803 Rüschlikon, Switzerland.

In this paper, we present a novel, highly efficient, and massively parallel implementation of the sparse matrix-matrix multiplication algorithm inspired by the midpoint method that is suitable for matrices with decay. Compared with the state of the art in sparse matrix-matrix multiplications, the new algorithm heavily exploits data locality, yielding better performance and scalability, approaching a perfect linear scaling up to a process box size equal to a characteristic length that is intrinsic to the matrices. Moreover, the method is able to scale linearly with system size reaching constant time with proportional resources, also regarding memory consumption. Read More

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Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.

Int J Mol Med 2015 Dec 15;36(6):1648-56. Epub 2015 Oct 15.

Department of Pathology, Qinghai People's Provincial Hospital, Xining, Qinghai 810007, P.R. China.

Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). In the present study, we constructed the mutations R116W [at the von Willebrand factor, type A (vWFA) domain], T298M [at the first epidermal growth factor (EGF) domain] and C299S (at the first EGF domain), according to the mouse sequence, which are associated with human MED, HOA and SEMD, respectively, by overlap extension PCR and inserted them into an expression vector (pcDNA3.1/v5-His). Read More

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December 2015

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

Am J Med Genet A 2015 Dec 6;167A(12):3103-7. Epub 2015 Aug 6.

North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.

Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. Two recent cases have highlighted the genetic heterogeneity of DSC, one demonstrating the presence and, the other, the absence of a COL2A1 mutation. Read More

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December 2015

[Clinical analysis of multiple myeloma patients with bone-related extramedullary disease: a longitudinal study on 834 consecutive patients in a single center of China].

Zhonghua Xue Ye Xue Za Zhi 2015 Jun;36(6):501-6

State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

Objective: To analyse the incidence, clinical features, prognosis of bone-related extramedullary disease (bEMD) and its relationship with strict EMD (sEMD) in MM patients.

Methods: The records of 834 consecutive newly diagnosed patients with MM in our hospital between 1993 and 2013 were retrospectively reviewed.

Results: ①Among 834 patients at diagnosis, 32 cases (3. Read More

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