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> Disorders > Congenital Abnormality > Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome is a rare genetic disorder characterized by a combination of craniofacial abnormalities, polydactyly (extra fingers or toes), and syndactyly (fused digits).
It is caused by mutations in the GLI3 gene and is inherited in an autosomal dominant pattern.
Individuals with this syndrome may have a broad, high forehead, hypertelorism (widely spaced eyes), and other facial features.
The extra digits and fused fingers or toes can affect both the hands and feet.
Thorough clinical evaluation and genetic testing are important for accurate diagnosis.
Managment typically involves surgical intervention to correct the limb abnormalities and ongoing multidisciplinary care to address the various manifestations of this complex condition.

Most cited protocols related to «Greig cephalopolysyndactyly syndrome»

1
Gastric Cancer Prognostic Signature Development
From September 1994 to December 2005, 1,557 GC patients underwent curative gastrectomy at Samsung Medical Center. Among those, 1,107 patients were selected based on following criteria: histologically confirmed adenocarcinoma of the stomach; surgical resection of tumour without macroscopic or microscopic residual disease; age ≥18; pathology stage IB (T2bN0, T1N1 but not T2aN0) to IV, according to the American Joint Committee on Cancer (AJCC) staging system (6th Ed); complete surgical record and treatment record, and patients receiving the INT-0116 regimen as adjuvant treatment [7] (link). The study was approved by the institutional review board of the Samsung Medical Center, Seoul, South Korea (IRB approval number: SMC 2010-10-025). All study participants provided written informed consent form recommended by the IRB. In the patients who have deceased at the time of study entry, written informed consent forms were waived by the IRB. Study design and patient cohorts are provided according to REMARK guideline (Figure 1A, 1B, File S1, Section 1). Of the cohort of 1,107 patients, a discovery set of 520 patients and a validation set of 587 patients were randomly assigned and allocated to 6 batches stratified by tumor size and year of surgery for WG-DASL assay.
To avoid false-positive conclusions due to over-fitting, prognostic algorithms and their predefined cut-points were tested in independent cohorts that were not used for prognostic gene discovery and algorithm building. A 4-phase study was designed, with 4 pre-defined independent cohorts recruited from the Samsung Medical Center. The first 3 cohorts include patients with similar clinical and pathological features from chemoradiotherapy-treated study cohorts (File S1, Section 2). The first phase (discovery phase) of the study included GC patients from all clinical stages who were treated with chemo-radiotherapy (N = 520) [8] (link). Tumor blocks from these patients were subjected to prognostic gene discovery using the WG-DASL (Illumina, San Diego, CA), a microarray gene expression profiling method for FFPE [7] (link). An ad-hoc external validation of the gene set was performed to minimize any bias from single institutional cohort. The second phase (algorithm development) was to translate findings from the first phase into a clinically applicable test format. We chose the nCounter platform (Nanostring Technologies, Seattle, WA), because of its ability to interrogate the expression levels of up to 800 genes using total RNA extracted from FFPE in a single-tube reaction [8] (link). We screened stage II patients from the first phase (N = 186) for de novo discovery of prognostic genes, selected ideal combinations of genes using the gradient least absolute shrinkage and selection operator (LASSO) algorithm [10] (link), and then built a first-generation GCPS (GCPS-g1) by adding the products of normalized gene expression and coefficients from the Cox model for DFS. In the third cohort of stage II patients (N = 216). In the fourth phase (testing of clinical utility in a surgery-only setting), we tested the potential clinical utility of GCPS in stage II patients treated with surgery only. A time stamp protocol (Figure S12) was developed before processing of this final cohort. We subsequently developed a refined second-generation GCPS (GCPS-g2) (the final gene set) by analyzing the combined stage II cohorts from the second and third phases of the study.
Lee J., Sohn I., Do I.G., Kim K.M., Park S.H., Park J.O., Park Y.S., Lim H.Y., Sohn T.S., Bae J.M., Choi M.G., Lim D.H., Min B.H., Lee J.H., Rhee P.L., Kim J.J., Choi D.I., Tan I.B., Das K., Tan P., Jung S.H., Kang W.K, & Kim S. (2014). Nanostring-Based Multigene Assay to Predict Recurrence for Gastric Cancer Patients after Surgery. PLoS ONE, 9(3), e90133.
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Publication 2014
Adenocarcinoma Biological Assay Candidate Gene Identification Cardiac Arrest Chemoradiotherapy Gastrectomy Genes Greig cephalopolysyndactyly syndrome Joints Microscopy Neoplasms Operative Surgical Procedures Patients Pharmaceutical Adjuvants Proteins Radiotherapy Residual Tumor Stomach Treatment Protocols
2
Axis II Protocol for Chronic Pain Assessment
The RDC/TMD Axis II includes measures from the GCPS 6 (link),27 and the Symptom CheckList-90 (SCL-90).28 The GCPS assesses pain intensity and interference with daily activities. It has been validated and has exhibited good psychometric properties in a large population survey and in large samples of primary care patients with pain. 6 (link),27 On the GCPS, study participants rated on scales from 0 = “no pain” to 10 = “pain as bad as could be” their current pain and average and worst facial pain in the past six months. The mean of these three ratings, multiplied by 10, is the characteristic pain intensity (CPI) score. 6 (link),25 ,27 Participants also rated on scales from 0 = “no interference” to 10 = “unable to carry on any activities” the degree of facial pain interference with daily activities, recreational/social/family activities, and work/housework activities in the past six months. The mean of these three ratings, multiplied by 10, is the pain-related activity interference score. 27 The GCPS also assesses the number of days of significant activity limitation due to pain in the past six months. Based on all three variables, the GCPS can be used to classify individuals into chronic pain grades: 0 = no pain, I = low pain intensity and low pain-related disability, II = high pain intensity and low pain-related disability, III = moderate pain-related disability, and IV = severe pain-related disability.
The Axis II Depression instrument includes the 13 SCL-90 depression scale items plus 7 SCL-90 “additional items” intended to assess vegetative symptoms of depression. The 7 additional items were included in the Axis II Depression instrument due to their content validity as part of the DSM construct of depression.1 ,15 The Nonspecific Physical Symptoms instrument (see Discussion for rationale for renaming this instrument) consists of the 12 items in the SCL-90 somatization scale. These SCL-90 items for both Depression and Nonspecific Physical Symptoms are identical to the corresponding items in the SCL-90-Revised (SCL-90R).29
Ohrbach R., Turner J.A., Sherman J.J., Mancl L.A., Truelove E.L., Schiffman E.L, & Dworkin S.F. (2010). Research Diagnostic Criteria for Temporomandibular Disorders: Evaluation of Psychometric Properties of the Axis II Measures. Journal of orofacial pain, 24(1), 48-62.
Publication 2010
BAD protein, human Chronic Pain Depressive Symptoms Disabled Persons Epistropheus Facial Pain Greig cephalopolysyndactyly syndrome Physical Examination Psychometrics Severity, Pain
3
Assessing Neuropathic Pain and Depression
The study was approved by the Ethics Committees of the Universities of Bochum and Würzburg. After providing informed consent, the patients were required to complete four questionnaires: the NPSI-G, the German version of the NPS (NPS-D), the graded chronic pain scale (GCPS, [12 (link)]), and the German version of the Center for Epidemiologic Studies Depression Scale (CES-D) [13 ]. Patients diagnosed with neuropathic pain were instructed to complete a 2nd NPSI-G as well as the patient global impression of change (PGIC) scale [14 (link)] 24 hours later. The entire set of questionnaires was repeated at 4 weeks. Since most of these patients were inpatients, their 24 hour questionnaire was readily distributed and collected. Outpatients with neuropathic pain were given both the 24 hour and 4 week questionnaires with dates for completion clearly marked and prepaid postal envelopes addressed to the investigators. Patients who did not return the questionnaires at the specified time intervals received telephone reminders. During the 4-week period, patients underwent medical treatment as required. Patients with headache (mostly outpatients) or osteoarthritis pain (mostly inpatients) received all of the above questionnaires only once and were instructed to complete their questionnaires while at the hospital.
Depressive symptoms were assessed using the CES-D questionnaire. Scores above 23 points were considered indicative of depressive states. Pain intensities were graded using the 11-point numerical scales (0 - 10) of the GCPS.
Sommer C., Richter H., Rogausch J.P., Frettlöh J., Lungenhausen M, & Maier C. (2011). A modified score to identify and discriminate neuropathic pain: a study on the German version of the neuropathic pain symptom inventory (NPSI). BMC Neurology, 11, 104.
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Publication 2011
Chronic Pain Degenerative Arthritides Depressive Symptoms Ethics Committees Greig cephalopolysyndactyly syndrome Headache Inpatient Neuralgia Outpatients Pain Patients Severity, Pain
4
Assessing Chronic Low Back Pain Outcomes
Pre-specified measures for primary- and secondary outcomes were assessed by self-administered standardized questionnaires to be completed by the patients. At baseline, questionnaires were handed out by the clinical investigators (DUF, TRT) and completed via paper-pencil at our medical center on the day of inclusion. For 6- and 12-week follow-ups, questionnaires were sent to patients 1 week in advance via postal service. The completed questionnaires were resubmitted via postal service as well. Subsequently, data were entered electronically (DUF). Data sheets were double-checked by JAP.
We attempted to remind patients to complete the assessments via email requests and phone calls and to verify if they properly received our surveys when submission was overdue. Patients were not contacted further.
Pain intensity was assessed on a 11-points numeric ratings scale (NRS; 0 = no pain, 10 = unbearable pain) for current pain, as well as for maximum and average pain over the last 4 weeks. Pain intensity is a recommended core outcome domain for clinical trials in non-specific LBP and chronic pain.44 (link),45 (link) NRS is a reliable and valid method of rating pain intensity.45 (link),46 In addition, a pain index was calculated as the mean of current, maximum and average pain intensity. The primary outcome was defined as the pain index at the 12-week follow-up.
Functional and behavioral measures were assessed at the 12-week follow-up as secondary outcomes. Functional ability was measured using the pain-specific German version of The HFAQ (FFbH-r “Funktionsfragebogen Hannover Rücken”). The HFAQ has been acknowledged to be well suited for measuring functional ability in patients with back pain.47 ,48 The questionnaire contains 12 questions about the ability to perform daily activities, rated on a Likert-scale. A functional ability score is calculated. Scores below 80% are considered as impairment, whereby scores around 70% equal a moderately, scores below 60% a severely limited function.
The GCPS has been widely used to collect data on both mental and physical aspects of chronic pain disorders, including chronic LBP.49 (link) Thus, our analysis of GCPS was carried out in the subgroup of chronic LBP patients. A translated German version was tested in primary care back pain patients and found to be valid and reliable.50 Pain severity is graded into four hierarchical classes, according to simple scoring rules: Grade I, low disability-low intensity; Grade II, low disability-high intensity; Grade III, high disability-moderately limiting; and Grade IV, high disability-severely limiting.
Impairment of health-related quality of life was assessed using the German version of the Veterans RAND 12-Item Health Survey (VR-12).51 The VR-12 was derived from the Veterans RAND 36 Item Health Survey (VR-36) and contains 12 items relating to quality of life, including physical and mental health. Physical and Mental Health Component Scores are calculated.52 (link) Both scores are t-transformed (M = 50, SD = 10). The VR-12 has been validated and is widely applied as a metric for tracking health-related quality of life
Data entered by Kaia App users as part of their self-test or app diaries stored on company servers in Frankfurt, Germany, were analyzed. Only pseudonymized data were extracted from the user database via reporting criteria and no personal data were submitted for scientific evaluation.
As part of the questionnaires, concomitant pain medication was assessed and quantified by the MQS.53 (link)The number of completed physiotherapy sessions was assessed as part of the questionnaires at follow-up (“How many physiotherapy sessions did you attend?”). Regarding online education, patients were also asked at follow-up if they used the provided links meanwhile and if they found the content useful.
Toelle T.R., Utpadel-Fischler D.A., Haas K.K, & Priebe J.A. (2019). App-based multidisciplinary back pain treatment versus combined physiotherapy plus online education: a randomized controlled trial. NPJ Digital Medicine, 2, 34.
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Publication 2019
Back Pain Chronic Pain Clinical Investigators Disabled Persons Disease, Chronic Greig cephalopolysyndactyly syndrome Mental Health Outpatients Pain Patients Pharmaceutical Preparations Physical Examination Primary Health Care Severity, Pain Therapy, Physical Veterans
5
Modulating Hedgehog Signaling Pathways

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Publication 2015
A 769662 Arsenic Trioxide Cells Cycloheximide Eflornithine Greig cephalopolysyndactyly syndrome Medulloblastoma MG 132 NIH 3T3 Cells Peptides Polyamines Protein Synthesis Inhibitors PTCH1 protein, human Putrescine Serum

Most recents protocols related to «Greig cephalopolysyndactyly syndrome»

1
High-Resolution Terrain Mapping with Satellite Imagery
In this study, GF-7 image Sharpening and nDSM generation are performed by PCI Geomatica. Image Sharpening mainly includes ground control point (GCP) and tie point (TP) collection, orthorectification, and panchromatic sharpening. The 0.5 m resolution orthophoto from the Map World (TianDiTu) is used as the geographic reference image. The fast Fourier transform phase matching algorithm (FFTP) collects the GCPs between the rear-view panchromatic, multispectral image and the georeferenced image. GCPs with residual values greater than three are removed, and TPs are gathered to match panchromatic and multispectral images. Afterward, the points with larger errors are removed based on the residual report to complete the collection of GCPs and TPs. Finally, the backward panchromatic, multispectral images are orthorectified based on the rational functional model, and then the multi-resolution analysis algorithm is used for image sharpening. nDSM generation mainly includes the collection of GCPs and TPs, creating epipolar images, extracting DSM, and image filtering. The GCPs and TPs of the front-view panchromatic and forward panchromatic images are collected using FFTP. Then, the forward panchromatic image and the backward panchromatic image are determined as the left epipolar image and the right epipolar image to complete the creation of the epipolar images. The semi-global matching algorithm is used to generate DSM data [43 (link)]. Finally, a variety of filtering strategies are used to obtain digital elevation model (DEM) data, DEM data is subtracted from DSM data to obtain nDSM data, and the nDSM values of water bodies and buildings with missing height information are corrected by calculating the average value in the region or reassigning them.
Li P., Sun Z., Duan G., Wang D., Meng Q, & Sun Y. (2023). DMU-Net: A Dual-Stream Multi-Scale U-Net Network Using Multi-Dimensional Spatial Information for Urban Building Extraction. Sensors (Basel, Switzerland), 23(4), 1991.
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Publication 2023
Fingers Greig cephalopolysyndactyly syndrome Strains Water, Body
2
TLS Data Orientation and Coordinate Transformation
The acquired scans were recorded in local coordinate systems. The first step in processing the TLS data was to orient the scans. This process was performed based on reference spheres and points homologously located on adjacent scans using Faro Scene software. The accuracy of the scan orientation results is affected by (i) the incidence angle of the laser beam; (ii) surface color; (iii) the type of surface material; and (iv) the number and geometry of overlapping points on several scans.
Based on the measured GCPs, the resulting point cloud was transformed into the coordinate system in which the other measurements were made (EPSG:2178) and was filtered to remove vegetation from the image.
Pasternak G., Zaczek-Peplinska J., Pasternak K., Jóźwiak J., Pasik M., Koda E, & Vaverková M.D. (2023). Surface Monitoring of an MSW Landfill Based on Linear and Angular Measurements, TLS, and LIDAR UAV. Sensors (Basel, Switzerland), 23(4), 1847.
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Publication 2023
Greig cephalopolysyndactyly syndrome Radionuclide Imaging
3
Identifying Sex-Specific Genomic Associations in Schizophrenia
The meQTLs from Jaffe et al. [28 (link)] and Ng et al. [42 (link)] were used to search for female- and male-related SNP-DMP pairs (fSDPs and mSDPs). We only used the reproducible meQTLs that were significant in both two datasets, which contained 434,312 meQTLs (253,471 SNPs and 45,049 CpGs, with FDR < 0.05). We searched for our sex-stratified DMPs of p < 1e-04 in these reproducible meQTLs for fSDPs and mSDPs. The partitioned linkage disequilibrium score regression (pLDSR) was applied to measure the enrichment of genome-wide association studies (GWAS) risk variants in SNPs of the fSDPs and mSDPs (within a 200kb window around the CpG site) [43 (link)]. LD scores were calculated for each SNPs in the SDPs using an LD window of 1cM in 1000 Genomes European Phase 3. The latest GWAS summary statistic (PGC3) was downloaded from the PGC websites (https://www.med.unc.edu/pgc/downloads).
The GCPs in DLPFC samples from Wang et al.[44 (link)] were used to define female- and male-related DMP-gene pairs (fDGPs and mDGPs). Furthermore, we identified DGP genes that were reported to be differentially expressed in SCZ based on the PsychENCODE results [45 ].
Chen C., Zhou J., Xia Y., Li M., Chen Y., Dai J, & Liu C. (2023). A Higher Dysregulation Burden of Brain DNA Methylation in Female Patients Implicated in the Sex Bias of Schizophrenia. Research Square.
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Publication Preprint 2023
Dorsolateral Prefrontal Cortex Europeans Females Genes Genome Genome-Wide Association Study Greig cephalopolysyndactyly syndrome Males Single Nucleotide Polymorphism Unithiol
4
Chromatin Preparation from Fixed Nuclei
Fixed GCPs were thawed on ice, resuspended in Cell Lysis Buffer (50 mM HEPES-KOH pH 7.5, 140 mM NaCl, 1 mM EDTA, 10% glycerol, 0.5% NP-40, and 0.25% Triton X-100, supplemented with 0.5 mM DTT, 0.2 mM PMSF, and protease and phosphatase inhibitors; 1 ml per 10 × 106 cells) and incubated for 10 minutes at 4 °C using end-over-end rotation. Nuclei were isolated by centrifugation at 1350g for 5 minutes at 4 °C. Fixed and sorted nuclei from P12 and P21 mice were thawed on ice. GCP nuclei and nuclei isolated with FACS were subsequently resuspended in Nuclei Lysis Buffer (50 mM Tris-HCl pH 8, 10 mM EDTA, and 1% SDS, supplemented with 0.5 mM DTT, 0.2 mM PMSF, and protease and phosphatase inhibitors; 140 μl per 10 × 106 nuclei) and incubated for 10 minutes at RT using end-over-end rotation. Lysates were passed through a 27G needle 2–3 times and sonicated using a Covaris E220 focused ultrasonicator in an AFA Fiber Pre-Slit Snap-Cap microTUBE at 140W peak power, 10% duty factor, and 200 cycles/burst for 1 min 50 s (P7 GCP nuclei) or 2 min 10 s (P12 and P21 GC nuclei). Triton X-100 was added at a final concentration of 1% and insoluble chromatin was pelleted by centrifugation at 13,000 rpm for 10 minutes at 4 °C. 5% of chromatin was used for determining sonication efficiency. Samples were stored at −80 °C until processing.
Mätlik K., Govek E.E., Paul M.R., Allis C.D, & Hatten M.E. (2023). Histone bivalency regulates the timing of cerebellar granule cell development. bioRxiv.
Publication Preprint 2023
Buffers Cell Nucleus Cells Centrifugation Chromatin Edetic Acid Endopeptidases Fibrosis Glycerin Greig cephalopolysyndactyly syndrome HEPES inhibitors Mus Needles Nonidet P-40 Phosphoric Monoester Hydrolases Sodium Chloride Triton X-100 Tromethamine
5
Isolation and Enrichment of Granule Cell Precursors
GCPs from P7 Tg(Atoh1-Egfp-L10a) mice were isolated using Percoll gradient centrifugation as described above. Pooled GCPs from 2 to 3 mice were homogenized in TRAP Lysis Buffer and processed in parallel to brain lysates described above. Since the isolated cells were enriched for GCPs, input was not collected.
Mätlik K., Govek E.E., Paul M.R., Allis C.D, & Hatten M.E. (2023). Histone bivalency regulates the timing of cerebellar granule cell development. bioRxiv.
Publication Preprint 2023
Brain Buffers Cells Centrifugation CXCL6 protein, human Greig cephalopolysyndactyly syndrome Mice, Laboratory Percoll

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More about "Greig cephalopolysyndactyly syndrome"

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by a combination of craniofacial abnormalities, polydactyly (extra fingers or toes), and syndactyly (fused digits).
This condition is caused by mutations in the GLI3 gene and is inherited in an autosomal dominant pattern.
Individuals with GCPS may have a broad, high forehead, hypertelorism (widely spaced eyes), and other distinctive facial features.
The extra digits and fused fingers or toes can affect both the hands and feet.
Thorough clinical evaluation and genetic testing are crucial for accurate diagnosis.
Management of GCPS typically involves surgical intervention to correct the limb abnormalities, as well as ongoing multidisciplinary care to address the various manifestations of this complex condition.
The condition is sometimes referred to as Greig syndrome or Greig cephalopolysyndactyly.
Related terms and concepts include L-glutamine, a common cell culture supplement, UNC1999, a small-molecule inhibitor, Poly-D-lysine, a cell adhesion promoter, the Click-IT EdU cell proliferation assay, Poly-D-lysine solution, Penicillin/streptomycin, a common antibiotic mixture, Metashape Pro, a 3D modeling software, the PrimeScript™ II 1st Strand cDNA Synthesis Kit, a tool for reverse transcription, FuGENE HD transfection reagent, a lipid-based transfection agent, and BrdU, a synthetic nucleoside analog used to label dividing cells.
While these terms may not be directly related to GCPS, they represent the broader context of genetic research, cell biology, and diagnostic tools that can be relevant to understanding and managing this rare condition.