scholarly journals Mutation in the Codon V180i in Familial Creutzfeldt-Jakob Disease with Diffuse Cortical Hyperintensity, in Brazil

2021 ◽  
Author(s):  
Fernando de Paiva Melo Neto ◽  
Artêmio José Araruna Dias ◽  
Marinna Karla da Cunha Lima Viana ◽  
Maurício Vasconcelos Valadares Neto ◽  
Paulo Francisco Lucena de Araújo Espínola ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Memory Loss ◽  
Therapeutic Management ◽  
Presenting Symptoms ◽  
Slow Progression ◽  
Patient Reported ◽  
History Of ◽  
Jakob Disease ◽  
Proper Diagnosis

Context: Familial Creutzfeldt-Jakob Disease (fCJD) represents 10 to 15% of CJD. Among its subtypes there is a mutation in codon V180I, in which, in complementary exams are observed an absence of specific findings in the electroencephalogram, low concentration of proteins in the CSF and a pattern of diffuse cortical hyperintensity (DCH) in the diffusion sequence identified by MRI. The fCJD with mutation in the V180I codon is predominant in females, presenting symptoms at an advanced age, slow progression, marked by important cognitive decline and low presence of myoclonus. Regarding therapeutic management, there is still no curative or modifying treatment, although the multidisciplinary approach plays a fundamental role in control and quality of life. Case report: A 72 years old male patient reported a history of recent progressive memory loss for three months. It evolved with difficulty in recognizing family members, repetitive behavior, global aphasia, instability when walking until reaching akinetic mutism. The diffusion sequence of MRI revealed areas of diffuse hyperintensity throughout the cerebral cortex. In view of this and after ruling out other etiologies, a mutation in the V180I codon related to fCJD was found. Conclusion: Given the rarity of this form of the disease, a rapid suspicion is essential, with imaging tests, especially skull MRI, and genetic tests, aiming at the proper diagnosis of CJD and its genetic form, with its correct therapeutic management.

Patients With a History of Oronasal Fistula Repair Exhibit Lower Oral Health Measured With Patient-Centric Outcomes Measures

2020 ◽  
pp. 105566562098133
Author(s):  
Alyssa Fritz ◽  
Diana S. Jodeh ◽  
Fatima Qamar ◽  
James J. Cray ◽  
S. Alex Rottgers
Keyword(s):  
Quality Of Life ◽  
Oral Health ◽  
Cleft Palate ◽  
Fistula Repair ◽  
Old Patients ◽  
Oronasal Fistula ◽  
Patient Reported ◽  
History Of ◽  
The Impact

Introduction: Oronasal fistulae following palatoplasty may affect patients’ quality of life by impacting their ability to eat, speak, and maintain oral hygiene. We aimed to quantify the impact of previous oronasal fistula repair on patients’ quality of life using patient-reported outcome psychometric tools. Methods: A cross-sectional study of 8- to 9-year-old patients with cleft palate and/or lip was completed. Patients who had a cleft team clinic between September 2018 and August 2019 were recruited. Participants were divided into 2 groups (no fistula, prior fistula repair). Differences in the individual CLEFT-Q and Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19) Oral Health scores between the 2 groups were evaluated using a multivariate analysis controlling for Veau classification and syndromic diagnosis. Results: Sixty patients with a history of cleft palate were included. Forty-two (70%) patients had an associated cleft lip. Thirty-two (53.3%) patients had no history of fistula and 28 (46.7%) patients had undergone a fistula repair. CLEFT-Q Dental, Jaw, and Speech Function were all higher in patients without a history of a fistula repair; however, none of these differences were statistically significant. The COHIP-SF 19 Oral Health score demonstrated a significantly lower score in the fistula group, indicating poorer oral health ( P = .05). Conclusions: One would expect that successful repair of a fistula would result in improved function and patient satisfaction, but the consistent trend toward lower CLEFT-Q scores and significantly increased COHIP-SF 19 Oral Health scores in our study group suggests that residual effects linger and that the morbidity of a fistula may not be completely treated with a secondary correction.

scholarly journals Hypertrophic Osteoarthropathy: A Secondary Manifestation of Malignant Melanoma

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Shiva Malaty ◽  
Aditya Gupta
Keyword(s):  
Metastatic Melanoma ◽  
Plain Film ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Studies ◽  
Case Presentation ◽  
Rare Finding ◽  
Presenting Symptoms ◽  
Lung Malignancies ◽  
History Of

Background. Hypertrophic osteoarthropathy (HOA) is a rare finding in the setting of metastatic melanoma. A majority of cases of secondary HOA involve lung malignancies. Evaluation of presenting symptoms such as polyarthralgia and clubbing followed by review of imaging studies are diagnostic steps for HOA. Case Presentation. We present a 60-year-old female with a history of metastatic melanoma who presented with bilateral and symmetric polyarthralgia and clubbing. A plain film radiograph demonstrated periosteal thickening involving the metacarpals and proximal phalanges as well as the distal radius and ulna, consistent with HOA. The patient was treated with nonsteroidal anti-inflammatory agents for supported care. Conclusion. HOA may be a secondary manifestation of metastatic melanoma. Recognition and supportive care of this condition may lead to improved quality of life for patients.

scholarly journals Capsaicin in the Treatment of Refractory Neuropathic Pain after Mastectomy Surgery: A Case Report

2020 ◽  
Vol 13 (2) ◽  
pp. 997-1001
Author(s):  
Lilit Flöther ◽  
David Avila-Castillo ◽  
Anna-Maria Burgdorff ◽  
Ralf Benndorf
Keyword(s):  
Neuropathic Pain ◽  
Pain Relief ◽  
Anxiety And Depression ◽  
Pain Medications ◽  
Oral Pain ◽  
Patient Reported ◽  
History Of ◽  
Oral Pain Medication ◽  
Pain Symptoms

A 62-year-old female patient with a history of mastectomy surgery and sentinel lymphadenectomy in the context of breast cancer therapy was referred to our clinic for the treatment of refractory neuropathic pain. She reported a complex set of symptoms including burning and electrical-like sensations as well as profound hyperesthesia, hyperalgesia, and allodynia. The symptoms persisted chronically over months with a strong intensity and did not sufficiently respond to oral pain medication and co-analgetics, that is, tapentadol and pregabalin. As the patient could hardly move her right upper arm due to the pain, the quality of life was greatly reduced. In addition, the patient reported pain-related anxiety and depression. Therefore, a therapy with capsaicin 8% patch was initiated. Treatment with capsaicin 8% led to pain relief without tolerance development and improved flexibility in the affected body area. Despite significant pain relief, previous oral pain medications (tapentadol, pregabalin) as well as the anti-depressant amitriptyline were maintained to fully resolve pain symptoms, anxiety, and depression. In conclusion, capsaicin 8% may represent an effective therapeutic alternative for patients suffering from refractory neuropathic pain.

scholarly journals Quality of life and mental health in breast cancer survivors compared with non-cancer controls: a study of patient-reported outcomes in the United Kingdom

2020 ◽  
Author(s):  
Helena Carreira ◽  
Rachael Williams ◽  
Harley Dempsey ◽  
Susannah Stanway ◽  
Liam Smeeth ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Quality Of Life ◽  
Primary Care ◽  
Cancer Survivors ◽  
Patient Reported Outcomes ◽  
Breast Cancer Survivors ◽  
Patient Reported ◽  
History Of ◽  
History Of Cancer

Abstract Purpose There is limited high-quality evidence on quality of life, anxiety, and depressive symptoms in breast cancer survivors and women with no history of cancer. We aimed to address this by comparing patient-reported outcomes between breast cancer survivors and women with no history of breast cancer. Methods Breast cancer survivors and women with no prior cancer were selected from the UK Clinical Practice Research Datalink GOLD primary care database, which includes population-based primary care electronic health record data. Breast cancer survivors and controls were frequency matched by age and primary care practice. Outcomes were assessed with validated instruments via postal questionnaire. Linear and logistic regression models were fitted to estimate adjusted associations between breast cancer survivorship and outcomes. Results A total of 356 breast cancer survivors (8.1 years post diagnosis) and 252 women with no prior cancer participated in the study. Compared with non-cancer controls, breast cancer survivors had poorer QoL in the domains of cognitive problems (adjusted β (aβ) = 1.4, p = 0.01), sexual function (aβ = 1.7, p = 0.02) and fatigue (aβ = 1.3, p = 0.01), but no difference in negative feelings, positive feelings, pain, or social avoidance. Breast cancer survivors had higher odds of borderline-probable anxiety (score ≥ 8) (adjusted OR = 1.47, 95%CI:1.15–1.87), but no differences in depression. Advanced stage at diagnosis and chemotherapy treatment were associated with poorer QoL. Conclusions Compared with women with no history of cancer, breast cancer survivors report more problems with cognition, sexual function, fatigue, and anxiety, particularly where their cancer was advanced and/or treated with chemotherapy. Implications for Cancer Survivors Breast cancer survivors with more advanced disease and/or treated with chemotherapy should be closely monitored and, when possible, offered evidence-based intervention for fatigue, cognitive dysfunction, and sexual problems.

scholarly journals A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Pragya Shrestha ◽  
Geetika Sabharwal ◽  
Gisoo Ghaffari
Keyword(s):  
Hidradenitis Suppurativa ◽  
Novel Mutation ◽  
Young Female ◽  
Skin Infections ◽  
Presenting Symptoms ◽  
Hyper Ige Syndrome ◽  
Immunodeficiency Disorder ◽  
History Of ◽  
Lung Infections

Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.

Baseline Characteristics of a National French E-Cohort of Hidradenitis Suppurativa in ComPaRe and Comparison with Other Large Hidradenitis Suppurativa Cohorts

Dermatology ◽  
2021 ◽  
pp. 1-11
Author(s):  
Morgane Condamina ◽  
Laetitia Penso ◽  
Viet-Thi Tran ◽  
Claire Hotz ◽  
Philippe Guillem ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hidradenitis Suppurativa ◽  
Real Life ◽  
Epidemiological Studies ◽  
Scientific Data ◽  
Disease Stage ◽  
Treatment History ◽  
Patient Reported ◽  
History Of

<b><i>Background:</i></b> Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition substantially impacting patients’ quality of life; the pathogenesis remains unclear, and treatment is complex and not yet standardized. Observational data are increasingly being used to evaluate therapeutics in “real-life” interventions, and the development of e-cohorts is offering new tools for epidemiological studies at the population level. <b><i>Objective:</i></b> The aim of this study was to describe the clinical characteristics and treatment history of HS participants in the Community of Patients for Research (ComPaRe) cohort and to compare these to other cohorts. <b><i>Methods:</i></b> We performed a cross-sectional study of the baseline data of HS participants in ComPaRe, an e-cohort of patients with chronic diseases. Data were collected using patient-reported questionnaires about clinical-dem­ographic aspects, quality of life, and treatment history. <b><i>Results:</i></b> A total of 396 participants (339 females, 57 males) were included (mean age 38 years); 83 (21%) had a family history of HS, 227 (57.3%) were current smokers, and 241 (60.9%) were overweight or obese. Most of the participants declared a Hurley stage II (<i>n</i> = 263, 66.4%) or III (<i>n</i> = 76, 20.3%). The breast was more frequently affected in women than men (37.5 vs. 5.3%, <i>p</i> &#x3c; 0.0001), whereas the dorsal region was more frequently affected in men (39.5 vs. 10.9%, <i>p</i> &#x3c; 0.0001). Increased disease stage was associated with obesity (25.9 vs. 33.8 vs. 51.3%, <i>p</i> = 0.02) and some HS localizations (genital [<i>p</i> &#x3c; 0.005], pubis [<i>p</i> &#x3c; 0.007], gluteal fold [<i>p</i> = 0.02], and groin [<i>p</i> &#x3c; 0.0001]). The most frequently prescribed treatments were oral antibiotics (<i>n</i> = 362, 91.4%), especially amoxicillin-clavulanic acid and cyclins. Less than 10% of participants received biologics. Most of these results were consistent with previously published cohorts. <b><i>Conclusion:</i></b> Recruitment of participants by such a web platform can be a faster way to get relevant scientific data for a wide variety of patients that could be used for epidemiological studies and to evaluate therapeutics in “real-life” interventions.

Natural History of Arteriovenous Malformations

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P41-P42
Author(s):  
James Y Suen ◽  
Lisa M Buckmiller ◽  
Chun-Yang Fan ◽  
Gal Shafirstein ◽  
Robert Glade
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Surgical Resection ◽  
Healthcare Providers ◽  
Previous Treatment ◽  
Insurance Companies ◽  
Preoperative Embolization ◽  
Presenting Symptoms ◽  
History Of

Objective 1) To demonstrate the natural history of arteriovenous malformation (AVMs) when left untreated or inadequately managed. 2) To demonstrate the need for major treatment to patients, families, healthcare providers, and insurance companies. Methods Records from 10 of 50 representative patients treated at University of Arkansas for Medical Sciences (UAMS) for advanced AVMs were reviewed for age at presentation, gender, presenting symptoms, previous treatment, disease course, and post-presentation management. Patients were asked if quality of life had improved after treatment at UAMS Facial photos from childhood were obtained and compared with photos taken at time of presentation. Results 10 patients (7 male, 3 female, range 21–46 years) received treatment. All patients presented with bleeding, pain and/or facial destruction. 6 of 10 patients received previous embolization. No patients had undergone previous surgical resection. All were informed by a previous physician that the disease was incurable or treatment options had been exhausted. All patients experienced subsequent worsening of symptoMS All patients were treated at UAMS with preoperative embolization followed by surgical resection and required multiple surgeries to remove persistent AVM. All patients indicated quality of life improved after embolization/surgical resection. Comparison of photos revealed progression of disease in all cases marked by facial destruction and deformity. Conclusions AVMs display a progressive and destructive nature when left untreated or inadequately managed. Natural history can be used to demonstrate to patients, families, and healthcare providers the seriousness of disease and convince insurance companies that radical treatment is typically necessary to obtain control or cure.

Outcome assessment after varicose veins treatment

Phlebologie ◽  
2008 ◽  
Vol 37 (04) ◽  
pp. 205-209 ◽  
Author(s):  
J.-J. Guex
Keyword(s):  
Patient Reported Outcomes ◽  
Varicose Veins ◽  
Clinical Status ◽  
Simple Manner ◽  
Instrumental Assessment ◽  
Patient Reported ◽  
History Of ◽  
Severity Of The Disease ◽  
Venous Disorders

SummaryIt is a general problem in chronic venous disorders (CVD) that there are very few solid outcomes, and that there is no simple manner to evaluate the severity of the disease. Many items must be taken into account: clinical status, anatomy, haemodynamics, prevention of complications, risk of recurrence, patients’ preferences, cost effectiveness, and most of all, patients’ main concerns relief.Assessment through physician reported outcomes has been the most common for decades but a fundamental progress has been made when patient reported outcomes have been described, validated and used. We consider that evaluation–not only of results, but also of the natural history of CVD–cannot be done by a single, physician driven, tool, and that it must include: clinical assessment, instrumental assessment and most of all patient reported outcomes such as quality of life scales. The SQOR-V, developed and validated by our team, serves specifically this latter goal. Use of such an instrument, specifically designed for CVD reduces biases in clinical studies and improves the value of evidences.

Results of the interprofessional and interdisciplinary Berlin round table on patient-reported outcomes, quality of life, and treatment expectations of patients with gynecological cancer under maintenance treatment

2020 ◽  
Vol 30 (10) ◽  
pp. 1603-1607
Author(s):  
Robert Armbrust ◽  
Sara Alavi ◽  
Adak Pirmorady ◽  
Frank Chen ◽  
Nicoletta Colombo ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Decision Making ◽  
Clinical Trials ◽  
Maintenance Treatment ◽  
Gynecological Cancer ◽  
Round Table ◽  
Second Opinion ◽  
Therapeutic Management ◽  
Patient Reported

BackgroundPatients’ reported outcomes and their perspectives around their therapeutic management is a field of continuously increasing relevance in gynecological oncology. We report the results of the Berlin dialog on seven patient-reported parameters and outcomes concerning chemotherapy and maintenance treatment in patients with gynecological cancer.MethodsKey opinion leaders in gynecological oncology from different European counties and representatives of leading patients’ advocate groups in Berlin held a consensus meeting in Berlin on April 6, 2019. Seven topics of interest were identified in advance around quality of life, iatrogenic toxicity, treatment decision-making processes, sexuality, participation in clinical trials, second opinion, and long-term survivors with the the following standard operating procedure for processing and discussion: (1) agreement on its relevance; (2) literature review, and (3) discussion and consensus statements.ResultsAll main topics reached a consensus approval. The defined statements emphasized the importance of patients’ role in incorporating and establishing quality of life as an outcome parameter in clinical trials. Furthermore, discussants raised the importance of identifying new tools for reflecting patient-reported iatrogenic toxicity as well as emphasizing patients’ rights in providing personal information, access to second opinion in the decision-making process, and their participation in clinical trials.ConclusionThe results of this round table meeting could help redefine perspectives on the discussed topics and the importance for therapeutic management as well as for trial designs.

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