scholarly journals Neurofibromatosis Clinic: A Report on Patient Demographics and Evaluation of the Clinic

2016 ◽  
Vol 44 (5) ◽  
pp. 577-588
Author(s):  
Alireza Mansouri ◽  
Saber Ghadakzadeh ◽  
Talha Maqbool ◽  
Carolina Barnett ◽  
Karolyn Au ◽  
...  
Keyword(s):  
Immune System ◽  
Clinical Data ◽  
Single Gene ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Cross Sectional ◽  
Canadian Population ◽  
Patient Reported ◽  
One Year ◽  
Reported Data

AbstractBackground: Neurofibromatosis type 1 (NF1) is a common single-gene disorder. A multidisciplinary approach to the management of NF1 patients is necessitated by the heterogeneity of clinical manifestations. Although multidisciplinary paediatric clinics have been well established, there is a dearth of such resources for adults with NF1. Herein we report our one-year institutional experience with a multidisciplinary adult NF1 clinic. Methods: A multidisciplinary team was assembled, and an NF Patient Registry Initiative questionnaire was adapted to collect patient-reported data during clinics. Multiple databases were searched to identify publications pertaining to the experience of other multidisciplinary NF1 clinics focusing on adult patients. Data on patient epidemiology and clinical staff were compared to our data. Results: A total of 77 patients were scheduled, and 68 attended the clinic, of whom 66 completed the intake questionnaire. The demographic and clinical data from this Canadian population are mostly consistent with previous reports, with some exceptions. Clinical data related to immune system involvement such as asthma, airway/breathing-related difficulties or allergies were striking in our NF1 population. Six relevant published reports of other NF1 clinics were identified. Reports from these studies pertained to periods ranging from 10 to 38 months, and the number of adults assessed ranged from 19 to 177 patients. Conclusions: The structure of our clinic and the patient volume are comparable to those of other established centres found in the literature. Our data offer valuable cross-sectional prevalence statistics in the Canadian population. The patient-reported data concerning involvement of the immune system contribute to an emerging recognized medical concern within the NF1 population and warrant further clinical and basic investigation.

The Development and Initial Findings of A Study of a Prospective Adult Research Cohort with Inflammatory Bowel Disease (SPARC IBD)

2021 ◽  
Author(s):  
Laura E Raffals ◽  
Sumona Saha ◽  
Meenakshi Bewtra ◽  
Cecile Norris ◽  
Angela Dobes ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Clinical Data ◽  
Bowel Disease ◽  
Patient Reported Outcomes ◽  
Data Entry ◽  
The United States ◽  
Predictors Of Response ◽  
Patient Reported ◽  
Inflammatory Bowel ◽  
Reported Data

Abstract Background Clinical and molecular subcategories of inflammatory bowel disease (IBD) are needed to discover mechanisms of disease and predictors of response and disease relapse. We aimed to develop a study of a prospective adult research cohort with IBD (SPARC IBD) including longitudinal clinical and patient-reported data and biosamples. Methods We established a cohort of adults with IBD from a geographically diverse sample of patients across the United States with standardized data and biosample collection methods and sample processing techniques. At enrollment and at time of lower endoscopy, patient-reported outcomes (PRO), clinical data, and endoscopy scoring indices are captured. Patient-reported outcomes are collected quarterly. The quality of clinical data entry after the first year of the study was assessed. Results Through January 2020, 3029 patients were enrolled in SPARC, of whom 66.1% have Crohn’s disease (CD), 32.2% have ulcerative colitis (UC), and 1.7% have IBD-unclassified. Among patients enrolled, 990 underwent colonoscopy. Remission rates were 63.9% in the CD group and 80.6% in the UC group. In the quality study of the cohort, there was 96% agreement on year of diagnosis and 97% agreement on IBD subtype. There was 91% overall agreement describing UC extent as left-sided vs extensive or pancolitis. The overall agreement for CD behavior was 83%. Conclusion The SPARC IBD is an ongoing large prospective cohort with longitudinal standardized collection of clinical data, biosamples, and PROs representing a unique resource aimed to drive discovery of clinical and molecular markers that will meet the needs of precision medicine in IBD.

scholarly journals Food intolerances and associated symptoms in patients undergoing Fobi-Capella technique without gastric ring

2015 ◽  
Vol 28 (1) ◽  
pp. 36-39 ◽  
Author(s):  
Marcella de Arruda MOREIRA ◽  
Patrícia Ramos Maciel ESPÍNOLA ◽  
Camila Wanderley de AZEVEDO ◽  
Cinthia Karla Rodrigues do Monte GUEDES
Keyword(s):  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Food Intolerance ◽  
World Health ◽  
Cross Sectional ◽  
Significant Difference ◽  
One Year ◽  
Health Organization ◽  
Nutritional Monitoring ◽  
Height Data

BACKGROUND: Bariatric surgery is considered the only effective method to treat refractory obesity, and especially for those in which clinical treatment was not successful. However, the appearance of food intolerances and clinical manifestations are quite common. AIM: To identify food intolerances and associated them to symptoms in patients undergoing Fobi-Capella technique without gastric ring. METHODS: This was a cross-sectional study of adult patients who had more than one year after surgery. Demographic, anthropometric, weight and preoperative height data were investigated. Nutritional status was classified according to the criteria established by the World Health Organization. It was considered food intolerance the presence of nausea, vomiting, diarrhea or bloating after eating a particular food. RESULTS: The sample consisted of 61 patients who attended the nutritional consultation of which 26 (42.6%) had food intolerance, mostly related to red meat (n=12; 34.3%) during the first six months of operation; there was a significant difference between the periods between 0 and 6 months, and 7 to 12 (p=0.02). Among the symptoms reported by patients, nausea was the most recurrent until the 6th month, but without significant differences between the two periods (p=0.06). CONCLUSION: The Fobi-Capella procedure without gastric ring promoted high frequency of intolerance to meat in general, especially for the red, chicken and fish, on this sequence; nausea was the most frequent symptom. These data suggest the need for adequate nutritional monitoring throughout the postoperative period.

scholarly journals Differentiation of Clinical Patterns Associated With Rhinologic Disease

2020 ◽  
pp. 194589242094170
Author(s):  
Sean M. Parsel ◽  
Charles A. Riley ◽  
Cameron A. Todd ◽  
Andrew J. Thomas ◽  
Edward D. McCoul
Keyword(s):  
Chronic Rhinosinusitis ◽  
Clinical Data ◽  
Nasal Polyposis ◽  
Hierarchical Cluster ◽  
Patient Data ◽  
Diagnostic Efficiency ◽  
Cross Sectional ◽  
Low Frequencies ◽  
Patient Reported ◽  
Snot 22

Background Common rhinologic diagnoses have similar presentations with a varying degree of overlap. Patterns may exist within clinical data that can be useful for early diagnosis and predicting outcomes. Objective To explore the feasibility of artificial intelligence to differentiate patterns in patient data in order to develop clinically-meaningful diagnostic groups. Methods A cross-sectional study of prospectively-acquired patient data at a tertiary rhinology clinic was performed. Data extracted included objective findings on nasal endoscopy, patient reported quality of life (PRQOL) instrument ratings, peripheral eosinophil fraction, and past medical history. Unsupervised non-hierarchical cluster analysis was performed to discover patterns in the data using 22 input variables. Results A total of 545 patients were analyzed after application of inclusion and exclusion criteria yielding 7 unique patient clusters, highly dependent on PRQOL scores and demographics. The clusters were clinically-relevant with distinct characteristics. Chronic rhinosinusitis without nasal polyposis (CRSsNP) was associated with two clusters having low frequencies of asthma and low eosinophil fractions. Chronic rhinosinusitis with nasal polyposis (CRSwNP) was associated with high frequency of asthma, mean (standard deviation [SD]) NOSE scores of 66 (19) and SNOT-22 scores of 41 (15), and high eosinophil fractions. AR was present in multiple clusters. RARS was associated with the youngest population with mean (SD) NOSE score of 54 (23) and SNOT-22 score of 41 (19). Conclusion Broader consideration of initially available clinical data may improve diagnostic efficiency for rhinologic conditions without ancillary studies, using computer-driven algorithms. PRQOL scores and demographic information appeared to be useful adjuncts, with associations to diagnoses in this pilot study.

scholarly journals Investigating Respondents and Nonrespondents of a Postal Breast Cancer Questionnaire Survey Regarding Differences in Age, Medical Conditions, and Therapy

Breast Care ◽  
2016 ◽  
Vol 11 (2) ◽  
pp. 139-143 ◽  
Author(s):  
Anna L. Frobeen ◽  
Christoph Kowalski ◽  
Verena Weiß ◽  
Holger Pfaff
Keyword(s):  
Breast Cancer ◽  
Selection Bias ◽  
Questionnaire Survey ◽  
Cancer Control ◽  
Hospital Staff ◽  
Postal Questionnaire ◽  
Cross Sectional ◽  
Old Patients ◽  
Patient Reported ◽  
Reported Data

Background: Collecting patient-reported data via postal questionnaires is a common and frequently used technique. Selection bias may occur through lost data from nonrespondents. This study investigated differences in characteristics between respondents and nonrespondents of a postal breast cancer survey. Patients and Methods: The investigation was based on a cross-sectional postal questionnaire survey for the mandatory annual routine (re-)certification of accredited breast centers in North Rhine-Westphalia in 2010. Out of 4,444 patients meeting the inclusion criteria who gave their consent to participate, 3,856 respondents sent back a questionnaire and 588 nonrespondents did not. Using logistic regression, differences between respondents and nonrespondents regarding information gathered through hospital staff concerning age, affected breast, UICC (Union for International Cancer Control) staging and grading, ASA (American Society of Anesthesiologists) classification, neoadjuvant chemotherapy, and type of surgery were assessed. Results: Very young and very old patients sent back their questionnaire significantly less frequently, as did patients who showed a later cancer stage and poorer general health and those who underwent mastectomy. Conclusion: Differences exist between respondents and nonrespondents with regard to age, disease, and therapy characteristics that need to be considered for the interpretation and generalizability of survey results due to selection bias.

Comparison of patient self-reported data to physician-reported data in eosinophilic granulomatosis with polyangiitis (Preprint)

2021 ◽  
Author(s):  
Irena Doubelt ◽  
Jason M. Springer ◽  
Tanaz A. Kermani ◽  
Antoine G. Sreih ◽  
Cristina Burroughs ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Clinical Manifestations ◽  
The United States ◽  
Research Network ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
American College Of Rheumatology ◽  
Organ Systems ◽  
Patient Reported ◽  
Reported Data ◽  
Eosinophilic Granulomatosis

BACKGROUND Patient-based registries can help advance research in rare diseases such as eosinophilic granulomatosis with polyangiitis (EGPA), a complex, multi-organ form of anti-cytoplasm neutrophil antibody (ANCA)-associated vasculitis. OBJECTIVE To compare patient-reported vs. physician-reported manifestations, treatments, and outcomes for patients with EGPA. METHODS Comparative analysis of patients ≥18 years with EGPA in Canada or the United States from two separate cohorts: i) The Vasculitis Patient-Powered Research Network (VPPRN), a self-enrolled, secure portal with patient-entered data updated quarterly (2013-2019), vs. ii) The Vasculitis Clinical Research Consortium (VCRC) observational studies, a physician-entered database (2003-2019) of patients who fulfilled the 1990 American College of Rheumatology classification criteria for EGPA. Studied parameters included demographics, clinical manifestations, ANCA status, treatments, and relapses. RESULTS Data from 195 patients with a validated diagnosis of EGPA in the VPPRN and 354 patients enrolled in the VCRC were analyzed. Compared to the VCRC cohort, the patients in the VPPRN cohort were more commonly female (69.2% vs. 59.0% in the VCRC cohort; P =.02), younger at diagnosis (47.3 vs. 50.0 years; P =.03), reported similar frequencies of asthma (96.2% vs 92.9% in VCRC; P =.13), cardiac manifestations (28.8% vs 21.2%; P =.06), but less frequent lung manifestations other than asthma, and more frequent disease manifestations in all other organ systems. ANCA positivity was 48.9% in the VPPRN patients vs. 38.9% (P=.05) in the VCRC cohort. Relapsing disease after study enrollment was reported in 32.3% patients in the VPPRN compared 35.7% of patients in the VCRC. Most therapies (glucocorticoids, cyclophosphamide, mepolizumab) were used at similar frequencies in both groups, except for rituximab with VPPRN patients reporting more use than VCRC cohort (24.1% vs. 10.5%; P =<.001). CONCLUSIONS Patients with EGPA generally report having more manifestations of disease than physicians report for patients with EGPA. These differences imply the need to reconsider how patient- and physician-reported data are collected for the study of EGPA, and reevaluate disease specific definitions. CLINICALTRIAL ClinicalTrials.gov: (1) VCRC Longitudinal Study (LS) NCT00315380 https://clinicaltrials.gov/ct2/show/NCT00315380 and (2) One-Time DNA (OT) study NCT01241305 https://clinicaltrials.gov/ct2/show/NCT01241305

scholarly journals Prevalence of Neuropathic Pain and Related Characteristics in Hidradenitis Suppurativa: A Cross-Sectional Study

2020 ◽  
Vol 9 (12) ◽  
pp. 4046
Author(s):  
Simone Garcovich ◽  
Simona Muratori ◽  
Chiara Moltrasio ◽  
Agata Alba Buscemi ◽  
Giulia Giovanardi ◽  
...  
Keyword(s):  
Neuropathic Pain ◽  
Pain Management ◽  
Hidradenitis Suppurativa ◽  
Specific Treatment ◽  
Cross Sectional Study ◽  
Pain Severity ◽  
Sectional Study ◽  
Cross Sectional ◽  
Patient Reported ◽  
Reported Data

Background: Pain is a core symptom of hidradenitis suppurativa (HS) and is of complex, multifactorial origin. HS patients frequently report typical neuropathic pain qualities, but its prevalence has been poorly described. Methods: In this cross-sectional study, we examine the prevalence of neuropathic pain (NP) component and related pain-characteristics of a hospital-based cohort of patients with symptomatic HS. We administered the pain-DETECT tool (PDQ), a validated screening tool for NP, collecting clinical and patient-reported data on pain, pruritus and pain-management. We obtained 110 complete datasets from symptomatic HS patients (49.1% females; Hurley I (27.3%])–II (45.5%)–III (27.3%)). According to the PDQ tool, 30% of patients were classified with a high probability (>90%) of neuropathic pain (LNP). LNP status was significantly associated with increased pain severity, disease activity, pruritus intensity and use of pain medication. Regression analysis showed a significant impact of the PDQ score on patient-reported outcomes, including pain severity and the dimensions of activity and affective pain interference. HS patients may present a mixed chronic pain phenotype with a neuropathic component, thus requiring additional pain-assessments. A multi-modal approach to pain management, in combination with disease-specific treatment, should be implemented in future interventional studies.

scholarly journals Clinical Manifestations of Herpes Zoster, Its Comorbidities, and Its Complications in North of Iran from 2007 to 2013

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Farhang Babamahmoodi ◽  
Ahmad Alikhani ◽  
Fatemeh Ahangarkani ◽  
Leila Delavarian ◽  
Hamidreza Barani ◽  
...  
Keyword(s):  
Herpes Zoster ◽  
Postherpetic Neuralgia ◽  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Delayed Treatment ◽  
Male Head ◽  
North Of Iran ◽  
Opium Addiction ◽  
One Year

Background. Herpes zoster infection is a painful worldwide disease. Inappropriate and delayed treatment causes prolongation of the disease with debilitating symptoms and postherpetic neuralgia.Method. A cross-sectional study evaluated shingles cases admitted in a teaching hospital with one-year followup in north of Iran from 2007 to 2013.Results. From 132 patients, 60.4% were male. Head and neck involvement occurred in 78 people (59.1%), thoracoabdominal region in 37 cases (28%), and extremities in 16 cases (12.1%), and one case (0.8%) got multisites involvement. 54 cases (40.9%) had predisposing factors including diabetes mellitus in 26 cases (19.7%), malignancy in 15 (11.4%), immunosuppressive medication in 7 (5.03%), HIV infection in 3 (2.3%), radiotherapy in 2 (1.5%), and tuberculosis in one patient (0.8%). The most common symptoms were pain (95.5%), weakness (56%), fever (31.1%), headache (30.3%), ocular complaints (27.3%), itching (24.2%), and dizziness (5.3%). 21 cases (15.9%) had bacterial superinfection on blistering areas and overall 18 cases (13.6%) had opium addiction. 4 cases (3.03%) died during admission because of comorbidities. Postherpetic neuralgia was reported in 56 patients (42.5%) after three months and seven cases (5%) in one-year followup.Conclusion.Shortening interval between skin lesion manifestation and starting medication can accelerate lesion improvement and decrease disease course, extension, and complication.

Prevalence of neck pain in migraine and tension-type headache: A population study

Cephalalgia ◽  
2014 ◽  
Vol 35 (3) ◽  
pp. 211-219 ◽  
Author(s):  
Sait Ashina ◽  
Lars Bendtsen ◽  
Ann C Lyngberg ◽  
Richard B Lipton ◽  
Nazrin Hajiyeva ◽  
...  
Keyword(s):  
Neck Pain ◽  
Primary Headache ◽  
Cross Sectional Study ◽  
Tension Type Headache ◽  
Primary Headaches ◽  
Cross Sectional ◽  
Type Headache ◽  
One Year ◽  
The One ◽  
Reported Data

Background We assessed the prevalence of neck pain in the population in relation to headache. Methods In a cross-sectional study, a total of 797 individuals completed a headache interview and provided self-reported data on neck pain. We identified migraine, TTH or both migraine and TTH (M+TTH) groups. Pericranial tenderness was recorded in 496 individuals. A total tenderness score (TTS) was calculated as the sum of local scores with a maximum score of 48. Results The one-year prevalence of neck pain was 68.4% and higher in those with vs. without primary headache (85.7% vs. 56.7%; adjusted OR 3.0, 95% CI 2.0–4.4, p < 0.001). Adjusting for age, gender, education and poor self-rated health, in comparison with those without headaches, the prevalence of neck pain (56.7%) was significantly higher in those with M+TTH (89.3%), pure TTH (88.4%) and pure migraine (76.2%) ( p < 0.05 for all three group comparisons). Individuals with neck pain had higher TTS than individuals without neck pain (15.1 ± 10.5 vs. 8.4 ± 8.0, p < 0.001). Conclusions Neck pain is highly prevalent in the general population and even more prevalent in individuals with primary headaches. Prevalence is highest in coexistent M+TTH, followed by pure TTH and migraine. Myofascial tenderness is significantly increased in individuals with neck pain.

scholarly journals Malignant tumors in children with neurofibromatosis Type 1

2021 ◽  
Vol 67 (3) ◽  
pp. 421-429
Author(s):  
Svetlana Mikhailova ◽  
Valentina Kozlova ◽  
Tatiana Kazubskay ◽  
Elena Sharapova ◽  
Mariia Iurchenko ◽  
...  
Keyword(s):  
Clinical Data ◽  
Malignant Tumors ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Clinical Aspects ◽  
Benign Tumors ◽  
Type I ◽  
Embryonal Tumors ◽  
Peripheral Nerve Sheath Tumors

Neurofibromatosis type I (NF1) is the monogenic inherited syndrome with established variability of clinical manifestations and the predisposition to the development of malignant tumors. Studying NF1 association with different types of cancers in children is necessary to understand the risk of their occurrence and the prognosis of the disease as well as subsequent studies of this predisposition. Aim. Analysis the clinical data of patients with NF1 and malignant and benign tumors arisen in them. Methods. A retrospective analysis of clinical data of 19 patients from 0 to 18 years old with a malignant tumor, carried out in N.N. Blokhin NMRCO from 1997 to 2018. Results. The clinical signs of NF1 showed an age-dependent timing of their onset. Embryonal tumors were the most common and occurred in 11 out of 19 patients (57.9%), embryonal rhabdomyosarcoma predominated (42.1%), more often affecting the urogenital tract. Familial NF1 was found in 31.6% of patients. NF1 disease of the parents of these children (in four mothers and two fathers) was limited to pigmented skin lesions and multiple neurofibromas. Genetic testing of NF1 gene in three families of children with embryonal tumors revealed 2 de novo mutations — p.V2635FS & p.W1314X and one inherited from father to son (p.2363_2365del). Malignant peripheral nerve sheath tumors developed in 15.8% of patients by puberty. Soft tissue sarcomas and hematopoietic tumors occurred in 10.5% of patients, respectively. Melanoma was found in one patient (5.3%). Conclusion. The data obtained make it possible to supplement the diapason of types of malignant tumors in children associated with NF1 and the possibility of their use in clinical practice for a more rational and targeted observation for patients. Further study of the molecular genetics and clinical aspects of NF1 is necessary for the development of promising therapies for NF1.

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