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 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 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.

scholarly journals Effect of noisy galvanic vestibular stimulation on dynamic posture sway under visual deprivation in patients with bilateral vestibular hypofunction

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Po-Yin Chen ◽  
Ying-Chun Jheng ◽  
Chien-Chih Wang ◽  
Shih-En Huang ◽  
Ting-Hua Yang ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Light Exposure ◽  
Light Condition ◽  
Vestibular Stimulation ◽  
Galvanic Vestibular Stimulation ◽  
Lateral Deviation ◽  
Clinical Trial Registration ◽  
Vestibular Hypofunction ◽  
Dark Conditions ◽  
Bilateral Vestibular Hypofunction

AbstractA single-blind study to investigate the effects of noisy galvanic vestibular stimulation (nGVS) in straight walking and 2 Hz head yaw walking for healthy and bilateral vestibular hypofunction (BVH) participants in light and dark conditions. The optimal stimulation intensity for each participant was determined by calculating standing stability on a force plate while randomly applying six graded nGVS intensities (0–1000 µA). The chest–pelvic (C/P) ratio and lateral deviation of the center of mass (COM) were measured by motion capture during straight and 2 Hz head yaw walking in light and dark conditions. Participants were blinded to nGVS served randomly and imperceivably. Ten BVH patients and 16 healthy participants completed all trials. In the light condition, the COM lateral deviation significantly decreased only in straight walking (p = 0.037) with nGVS for the BVH. In the dark condition, both healthy (p = 0.026) and BVH (p = 0.017) exhibited decreased lateral deviation during nGVS. The C/P ratio decreased significantly in BVH for 2 Hz head yaw walking with nGVS (p = 0.005) in light conditions. This study demonstrated that nGVS effectively reduced walking deviations, especially in visual deprived condition for the BVH. Applying nGVS with different head rotation frequencies and light exposure levels may accelerate the rehabilitation process for patients with BVH.Clinical Trial Registration This clinical trial was prospectively registered at www.clinicaltrials.gov with the Unique identifier: NCT03554941. Date of registration: (13/06/2018).

scholarly journals MEBO versus topical Diltiazem versus a combination of both ointments in the treatment of acute anal fissure: a randomized clinical trial protocol

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mohamad Hadi El Charif ◽  
Samer Doughan ◽  
Rawya Kredly ◽  
Sara Kassas ◽  
Rayan Azab ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Wound Healing ◽  
Anal Fissure ◽  
Topical Therapy ◽  
Trial Registration ◽  
Clinical Trial Registration ◽  
Anal Fissures ◽  
Link Type ◽  
Anorectal Region ◽  
Registration Date

Abstract Background Anal fissure is a common complication of the anorectal region and one of the most reported causes of anal pain. Acute anal fissure can be cured by surgery or medical treatment. There is an increase in the use of topical therapy for the treatment of anal fissures. A common topical drug used is Diltiazem (DTZ), a calcium-channel blocker, which relaxes the anal sphincter and thus promotes healing of the anal fissure. Moist exposed burn ointment (MEBO) is an ointment that is effective for the treatment of burns and wound healing and is becoming popular in the treatment of anal fissures. Methods This is a 1:1:1 randomized, controlled, parallel design, with endpoint measures of change in pain score, wound healing, defecation strain score and patient’s global impression of improvement. The study will be conducted at AUBMC over a 10-week period. Patients will be randomized to three treatment arms: MEBO, Diltiazem, and a combination of MEBO and Diltiazem ointments. Discussion The results of this study will allow physicians to assess the efficacy and safety of MEBO in the treatment of acute anal fissure, and also in comparison to Diltiazem. This trial will generate evidence-based conclusions regarding the use of a herbal/natural-based product (MEBO ointment) for the treatment of anal fissures. Trial registration ClinicalTrials.gov Identifier NCT04153032. Clinical Trial Registration Date: 06-NOVEMBER-2019.

scholarly journals Expression of inflammatory mediators in biofilm samples and clinical association in inflammatory bowel disease patients—a preliminary study

2021 ◽  
Author(s):  
Mayte Buchbender ◽  
Jakob Fehlhofer ◽  
Peter Proff ◽  
Tobias Möst ◽  
Jutta Ries ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Inflammatory Bowel Disease ◽  
Oral Cavity ◽  
Bowel Disease ◽  
Trial Registry ◽  
Clinical Trial Registry ◽  
Clinical Trial Registration ◽  
Expression Levels ◽  
Inflammatory Bowel ◽  
Group 2

Abstract Objectives Inflammatory bowel disease (IBD) has multiple impacts on soft and hard tissues in the oral cavity. The aim of this study was to analyze the expression of cytokines in biofilm samples from patients suffering from IBD and compare them to healthy patients. It was hypothesized that different cytokine expression levels and clinical associations might be drawn. Material and methods A total of 56 biofilm samples from three different patient cohorts (group 0 = healthy, HC n = 30; group 1 = Crohn’s disease, CD, n = 19; group 2 = ulcerative colitis, UC, n = 7) were examined for the expression levels of the cytokine interleukins IL-2, -6, and -10; matrix metalloproteinases 7 and 9; and surface antigens CD90/CD11a by quantitative real-time PCR and according to clinical parameters (plaque index, BOP, PD, DMFT, CAL). Relative gene expression was determined using the ∆∆CT method. Results The mean BOP values (p = 0.001) and PD (p = 0.000) were significantly higher in the CD group compared to controls. Expression of IL-10 was significantly higher in the CD (p = 0.004) and UC groups (p = 0.022). Expression of MMP-7 was significantly higher in the CD group (p = 0.032). IBD patients treated with TNF inhibitors (p = 0.007) or other immunosuppressants (p = 0.014) showed significant overexpression of IL-10 compared to controls. Conclusion Different expression levels of IL-10 and MMP-7 were detected in plaque samples from IBD patients. As only BOP was significantly increased, we conclude that no clinical impairment of periodontal tissue occurred in IBD patients. Clinical relevance With the worldwide increasing incidence of IBD, it is important to obtain insights into the effects of the disease on the oral cavity. The study was registered (01.09.2020) at the German clinical trial registry (DRKS00022956). Clinical trial registration The study is registered at the German clinical trial registry (DRKS00022956).

Clinical Trial Registration: The Time Has Come…

PM&R ◽  
2015 ◽  
Vol 7 (12) ◽  
pp. 1203-1204 ◽  
Author(s):  
Leighton Chan ◽  
Allen W. Heinemann
Keyword(s):  
Clinical Trial ◽  
Trial Registration ◽  
Clinical Trial Registration

scholarly journals Postural differences in the immediate effects of active exercise with compression therapy on lower limb lymphedema

2021 ◽  
Author(s):  
Kiriko Abe ◽  
Tetsuya Tsuji ◽  
Asako Oka ◽  
Junichi Shoji ◽  
Michiyo Kamisako ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Supine Position ◽  
Lower Limb ◽  
Gynecological Cancer ◽  
Compression Therapy ◽  
Bicycle Ergometer ◽  
Therapeutic Effects ◽  
Clinical Trial Registration ◽  
Mixed Effect ◽  
Compression Bandages

Abstract Purpose Although regarded as an important treatment for lymphedema, the therapeutic effects of active exercise with compression therapy (AECT) are supported by little evidence. The purpose of this study was to determine the relative benefits of AECT with different postures for patients with lower limb lymphedema (LLL). Methods Eighteen women with LLL secondary to surgical treatment of gynecological cancer, completed (1) AECT in a seated position (seated AECT), (2) AECT in a supine position (supine AECT), and (3) compression-only therapy in a supine position (CT) in this randomized, controlled, crossover trial. AECT was performed on a bicycle ergometer while wearing elastic compression bandages. Each intervention was performed for 15 min, and the three conditions were separated by a 1-week washout period. Lower-limb volumes were evaluated using a PerometerTM sensor (Pero-system, Wuppertal, Germany), and symptom severity was assessed before and after each intervention using a visual analog scale (pain, heaviness) and palpation (pitting, stiffness). The effects of the interventions were estimated using linear mixed-effect models. Results The magnitude of limb volume decreases differed significantly among the interventions, with a greater decrease after supine AECT than after CT. Pre-intervention pitting severity and skin stiffness were significantly correlated with the magnitude of volume decrease after all interventions and after AECT in the supine position, respectively. Conclusions Supine AECT using a bicycle ergometer has marked immediate effects to decrease the fluid volume of severe LLL. Clinical trial registration UMIN clinical trial registry (UMIN-CTR; ID000020129) by CONSORT 2010, TRN R000023253, December 9, 2015

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