scholarly journals Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study

2020 ◽  
Author(s):  
Ummusen Kaya Akca ◽  
Pelin Ozlem Simsek Kiper ◽  
Gizem Urel Demir ◽  
Erdal Sag ◽  
Erdal Atalay ◽  
...  
Keyword(s):  
Pediatric Rheumatology ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Musculoskeletal Symptoms ◽  
Coxa Vara ◽  
Musculoskeletal Complaints ◽  
Connective Tissue Disorders ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
Rheumatologic Diseases ◽  
Trichorhinophalangeal Syndrome

Abstract BackgroundMusculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department.MethodsPatients who presented to the Department of Pediatric Rheumatology and were referred to the pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 ± 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the pediatric genetics department. The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8).ConclusionsIn the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.

scholarly journals Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases

2020 ◽  
Author(s):  
Ummusen Kaya Akca ◽  
Pelin Ozlem Simsek Kiper ◽  
Gizem Urel Demir ◽  
Erdal Sag ◽  
Erdal Atalay ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Pediatric Rheumatology ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Musculoskeletal Symptoms ◽  
Musculoskeletal Complaints ◽  
Clinical Trial Registration ◽  
Rheumatologic Diseases ◽  
Trichorhinophalangeal Syndrome ◽  
Ethics Commission

Abstract BackgroundMusculoskeletal symptoms may be due to non-inflammatory causes including genetic disorders. We aimed to examine the final genetic diagnosis in patients who had presented with musculoskeletal complaints to rheumatology department.MethodsPatients presenting to the department of pediatric rheumatology and consulted to the genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age 12.46 ± 1.41 years were included in the study. Total consanguinity rate was 25%. The most common (29.5%) cause of referral to the genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one third of the patients (n: 19) were diagnosed and followed up by the genetic department. The diagnoses of patients were as follows; CACP syndrome (n:3), trichorhinophalangeal syndrome (n:1), progressive pseudoromatoid dysplasia (n:2), LIG4 syndrome (n:1), H syndrome (n:1), SPENCD syndrome (n:3), and nonspecific connective tissue disease (n:8).ConclusionsIn the differential diagnosis of patients who are referred to the department of pediatric rheumatology with complaints of the musculoskeletal system, genetic disorders should also be taken into consideration.Clinical Trial Registration: Hacettepe University Ethics Commission (Approval number: GO 19/781)

scholarly journals Epidemiology of musculoskeletal symptoms, rheumatologic disorders, and disability in the Zoroastrian population in Yazd, Iran: a WHO-ILAR COPCORD study (stage 1)

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Ali Dehghan ◽  
Hossein Soleimani Salehabadi ◽  
Ahmadreza Jamshidi ◽  
Zohre Kamali ◽  
Mojgan Mali ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Musculoskeletal Symptoms ◽  
Treatment Programs ◽  
Cluster Sampling ◽  
Musculoskeletal Complaints ◽  
Rheumatologic Diseases ◽  
The Mean ◽  
University Level ◽  
Stage 1 ◽  
The City

Abstract Background The purpose of this study was to determine the prevalence of musculoskeletal complaints, rheumatologic diseases, and disability among the Zoroastrian population in Iran. Methods The city of Yazd, in central Iran was selected for this study, with the highest population of Zoroastrians in Iran. Subjects were selected by cluster sampling of 9 neighborhoods populated with Zoroastrians. Subjects ≥15 years old were interviewed by trained interviewers in their houses. The validated Farsi translation of Community Oriented Program for the Control of Rheumatic Disease (COPCORD) Core Questionnaire (CCQ) was used for this study. Subjects with musculoskeletal complaints (pain, stiffness and/or swelling) were examined by a rheumatologist. Laboratory tests and radiographic exams were performed when deemed necessary. Results Two-thousand subjects were interviewed during a 12-month period, of which 956 were male, and 1044 were female. The mean age was 41.1 ± 18.3 years (95%CI: 40.3–41.9). 36.9% of the subjects had university-level education. In the 7 days prior to the interview, 27.6% of the subjects had musculoskeletal complaints, with the knee, dorsolumbar spine, and shoulder being the most common sites of complaints. The most common rheumatologic diagnoses were osteoarthritis (21.5%) and low back pain (10.3%). Rheumatoid arthritis was diagnosed in 1.2% of the subjects. Conclusions The epidemiology of musculoskeletal complaints and rheumatologic disorders was inconsistent with previous COPCORD studies in Iran, with a lower prevalence of musculoskeletal complaints in general, lower rates of Behçet and lupus, and a higher prevalence of rheumatoid arthritis. The findings of this study can be for development of better prevention, screening, and treatment programs for the vulnerable population of Zoroastrians in Iran.

Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia

2015 ◽  
Vol 22 (1) ◽  
pp. 133-146 ◽  
Author(s):  
Angelina Patrick Olesen ◽  
Siti Nurani Mohd Nor ◽  
Latifah Amin
Keyword(s):  
Genetic Disorders ◽  
Genetic Diagnosis

scholarly journals Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study

2021 ◽  
pp. 104185
Author(s):  
Ummusen Kaya Akca ◽  
Pelin Ozlem Simsek Kiper ◽  
Gizem Urel Demir ◽  
Erdal Sag ◽  
Erdal Atalay ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Disorders ◽  
Single Center ◽  
Rheumatologic Diseases

The current state and legal framework of preimplantation genetic diagnosis (PGD) in Japan

2004 ◽  
Vol 1 (3) ◽  
Author(s):  
Mariko Nishizawa
Keyword(s):  
High Risk ◽  
Preimplantation Genetic Diagnosis ◽  
Reproductive Medicine ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Legal Framework ◽  
Reproductive Technology ◽  
Current State ◽  
Reproductive Technique ◽  
Policy Discussion

AbstractBecause of the rapid advances currently taking place in reproductive technology, Japan is being pressed to adjust its conventional approach to reproductive medicine. One example of the innovations in the technology is the reproductive technique known as preimplantation genetic diagnosis, or PGD (PGD is seen by some as a reproductive technique that can help couples who are at high risk of passing on serious genetic disorders to their offspring. However, it is a contested technology. Concerns are increasingly being raised about the lack of sufficient public debate and policy discussion concerning the test's ethical and social implications. The need for policy discussions and a comprehensive legal system to control all areas of reproductive medicine, including PGD, should be more widely addressed.

scholarly journals Whole exome analysis of primary immunodeficiency

2018 ◽  
Vol 22 (5) ◽  
pp. 620-626
Author(s):  
E. S. Rahmani ◽  
Н. Azarpara ◽  
M. Karimipoor ◽  
Н. Rahimi
Keyword(s):  
Primary Immunodeficiency ◽  
Genetic Disorders ◽  
Single Gene ◽  
Correct Diagnosis ◽  
Severe Combined Immunodeficiency ◽  
Genetic Diagnosis ◽  
Cost Effective ◽  
Mendelian Disease ◽  
Inherited Disorders ◽  
Whole Exome

The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. The presented study used WES to investigate two infants with symptoms of primary immunodeficiency including hemophagocytic lymphohistio­cytosis (HLH) and severe combined immunodeficiency (SCID). It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). It has been demonstrated that WES is a fast and cost-effective method facilitating genetic diagnosis in PID sufferers.

scholarly journals MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Rong Yu ◽  
Lv Liu ◽  
Ya-Li Li ◽  
Liang-Liang Fan
Keyword(s):  
Hearing Loss ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Han Chinese ◽  
White Hair ◽  
Chinese Family ◽  
Waardenburg Syndrome ◽  
Genetic Lesion

Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndrome often present with pale blue eyes, albino skin, and distinctive hair coloring, such as a patch of white hair or hair that prematurely turns gray. At present, more than six candidate genes are responsible for four types of Waardenburg syndrome and Tietz syndrome. This study is aimed at identifying the pathogenic gene variants in a three-generation Han Chinese family with hearing loss, blue-gray iris, albino skin, and white hair. In order to discover the molecular genetic lesion underlying the disease phenotype, whole exome sequencing in the proband, with Tietz/Waardenburg syndrome phenotypes, of a Han Chinese family from HeBei, China, was conducted. A novel heterozygous c.650G>C/p.Arg217Thr variant in melanocyte inducing transcription factor (MITF) was identified. Sanger sequencing further validated that this mutation existed in three affected individuals and absent in healthy family members. Bioinformatics analysis predicted that this mutation was deleterious. Our study further identified the genetic lesion of the family. Simultaneously, our study may also contribute to genetic counseling, embryonic screening of in vitro fertilized embryos, and prenatal genetic diagnosis of patients with Tietz/Waardenburg syndrome, especially for the proband, unmarried and unpregnant women, to reduce familial transmission in this Han Chinese family.

scholarly journals Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge

2019 ◽  
Author(s):  
Lipika R. Pal ◽  
Kunal Kundu ◽  
Yizhou Yin ◽  
John Moult
Keyword(s):  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Whole Genome Sequencing Data ◽  
Whole Genome ◽  
Sequencing Data ◽  
Disease Class ◽  
Phenotypic Profile ◽  
Whole Genomes ◽  
Matching Score ◽  
Coding Variants

ABSTRACTPrecise identification of causative variants from whole-genome sequencing data, including both coding and non-coding variants, is challenging. The CAGI5 SickKids clinical genome challenge provided an opportunity to assess our ability to extract such information. Participants in the challenge were required to match each of 24 whole-genome sequences to the correct phenotypic profile and to identify the disease class of each genome. These are all rare disease cases that have resisted genetic diagnosis in a state-of-the-art pipeline. The patients have a range of eye, neurological, and connective-tissue disorders. We used a gene-centric approach to address this problem, assigning each gene a multi-phenotype-matching score. Mutations in the top scoring genes for each phenotype profile were ranked on a six-point scale of pathogenicity probability, resulting in an approximately equal number of top ranked coding and non-coding candidate variants overall. We were able to assign the correct disease class for 12 cases and the correct genome to a clinical profile for five cases. The challenge assessor found genes in three of these five cases as likely appropriate. In the post-submission phase, after careful screening of the genes in the correct genome we identified additional potential diagnostic variants, a high proportion of which are non-coding.

scholarly journals Prevalence of musculoskeletal complaints and quality of life among administrative technicians

2020 ◽  
Vol 18 (1) ◽  
pp. 45-50
Author(s):  
Thiago Bezerra Wanderley e Lima ◽  
Jéssica Rodrigues Albuquerque ◽  
Marina Gomes Fagundes ◽  
Carina Carvalho Correia Coutinho
Keyword(s):  
Quality Of Life ◽  
The Body ◽  
Public Institution ◽  
Musculoskeletal Symptoms ◽  
Musculoskeletal Complaints ◽  
Significance Level ◽  
Work Related ◽  
Sf 36 ◽  
Prevalence Of Pain

Background: Work-related musculoskeletal disorders comprise muscle, tendon, synovial, nerve, fascial and ligament injuries alone or combined, with a proven or not relationship with work. They manifest as pain, paresthesia, feeling of heaviness and fatigue, and may cause temporary or permanent incapacity for work. Objective: To establish the prevalence of musculoskeletal symptoms and quality of life of administrative technicians at a public institution who used computers at work for 5 years. Methods: The sample comprised 70 administrative technicians aged 20 to 69 who used computers at work for 5 years. We analyzed the prevalence of musculoskeletal complaints by means of the Nordic Musculoskeletal Questionnaire and quality of life with SF-36. Interviews were performed in the workplace. The data were analyzed with SPSS 20.0 and the significance level was set to 5%. Results: SF-36 domain scores were considered satisfactory for all the participants. Prevalence of pain in the past 7 days (70%) and past 12 months (77.1%) was high. The lower back was the body site most frequently involved (38.6%). Conclusion: The prevalence of pain in several body sites was high among the analyzed administrative technicians. Pain might interfere with their work and lead to sick leave spells. Clinical assessments and interventions are needed to minimize this problem.

Sign in / Sign up

Export Citation Format

Share Document