App-based supplemental exercise in rehabilitation, adherence, and effect on outcomes: a randomized controlled trial.

QUESTION: To determine the uptake of an app-based supplemental exercise programme in a rehabilitation setting and the effect of such a programme on length of stay and function compared to usual care physiotherapy. DESIGN: Randomized controlled trial with random allocation and assessor blinding. PARTICIPANTS: A total of 144 individuals with mixed diagnoses (orthopaedic, neurological, reconditioning) admitted for inpatient sub-acute rehabilitation. INTERVENTIONS: Participants were randomly allocated to usual care physiotherapy (control group) or usual care physiotherapy with the addition of an app-based supplemental exercise programme (intervention group). OUTCOME MEASURES: The primary measure of interest was total supplementary exercise dosage completed by the intervention group. The primary between-group outcome measure was length of stay with secondary measures including walking endurance (Six-Minute Walk Test), walking speed (10-Metre Walk Test), functional mobility (Timed Up and Go Test) and level of disability (Functional Independence Measure). RESULTS: Participants in the intervention group performed 7 minutes (SD: 9) or 49 repetitions (SD: 48) of supplementary exercise using the app each day. There were no differences between the groups for length of stay (mean difference (MD): -0.5 days, 95% confidence interval (CI): -3.2 to 2.2) or change in any secondary functional outcome measures, including walking speed (MD: -0.1 m/s, 95% CI: -0.2 to 0.0) and disability (MD: -0.9, 95% CI: -3.6 to 1.8). CONCLUSION: A small supplementary exercise dose was achieved by participants in the intervention group. However, such a programme did not affect length of stay or functional outcomes when compared to usual care.

Nailfold capillaroscopy and autoimmune connective tissue diseases in patients from a Portuguese nailfold capillaroscopy clinic.

Raynaud's phenomenon (RP) is frequent in autoimmune connective tissue diseases (AICTD) and its approach includes nailfold capillaroscopy (NFC), as it is a non-invasive technique that permits direct visualization of the microcirculation. The aim of this study is to analyze and establish clinical correlations between NFC findings and particular aspects of autoimmune disorders. This is a retrospective study. Clinical data from patients attending our NFC clinic were reviewed. Inclusion criteria included AICTD previous diagnosis, which included systemic sclerosis (SSc), mixed connective tissue disease (MCTD), systemic lupus erythematosus (SLE), Sjögren syndrome, inflammatory idiopathic myopathies (IIM), rheumatoid arthritis, undifferentiated connective tissue disease and antiphospholipid syndrome (APS). Videocap® version 3.0 biomicroscope was used. NFC score was determined. For statistics, SPSS software was utilized. 384 patients were included; most of them were women, with mean age of 47 years. RP was present in 91% of the patients, with greater prevalence in SSc and MCTD. Scleroderma pattern was the most prevalent NFC pattern, mainly in SSc, MCTD and IIM. Mean capillary density was reduced in IIM, SSc and MCTD. NFC score was worse in SSc, IIM and MCTD. In patients with AICTD, RP is related to microvascular damage and worse NFC score. NFC scleroderma pattern correlates with SSc classification criteria score. In MCTD, scleroderma pattern relates to myositis. SLE and APS reveal significant hemorrhages, but not related to APS antibodies. This study highlights the possible role of NFC as biomarker of AICTD, particularly in SSc and IIM.

App-based supplemental exercise during inpatient orthopaedic rehabilitation increases activity levels: a pilot randomised control trial.

BACKGROUND: There is a known positive relationship between time in therapy and therapy outcomes. Effective rehabilitation should therefore include larger doses of therapy. However, individuals participating in inpatient rehabilitation have low levels of activity throughout the day. This level of inactivity may limit rehabilitation potential. New technologies which deliver personalised exercise programs and track time spent on exercises may lead to greater activity levels and therefore improve functional outcomes in rehabilitation. This pilot randomised control trial aimed to investigate whether an app-based supplemental exercise program in orthopaedic rehabilitation will be feasible and acceptable to participants, increase activity levels and improve functional outcomes. METHODS: Participants were randomised to receive supplemental exercise via an app (PTPal™) on a tablet device additional to usual care or usual care alone. Primary outcome measures were participant satisfaction with app-based supplemental exercise, total repetitions of each activity and time in supplemental exercise programs. Secondary measures were 10-m walk test (10MWT), 6-min walk test (6MWT), Timed Up and Go (TUG), Functional Independence Measure and length of stay assessed by a blinded assessor. RESULTS: Twenty individuals admitted into an inpatient private general rehabilitation unit for orthopaedic rehabilitation over a 4-week duration were included in this study. High acceptance of the app-based supplemental exercise program was demonstrated. Those using the app completed an additional 549 exercise repetitions during their admission (694 supplemental app-based repetitions vs 146 supplemental paper-based repetitions in the control group, mean difference [MD] 549, 95% CI 95 to 1002, p = 0.02) and an additional 157 min in supplemental exercise throughout their admission (195.3 min vs 38.7 min, MD 157 min, 95% CI 0.9-312.3 min, p = 0.05). There was insufficient power to demonstrate statistical significance in functional outcomes, but a trend towards improved functional outcomes was observed in the intervention group. CONCLUSION: An app-based exercise program increases activity levels, is feasible and is a safe intervention with the potential to improve functional outcomes. This pilot study should be followed with a larger study powered to demonstrate functional effects with more participants having greater impairment. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry (ANZCTR); trial number ACTRN12617000817347. This study was retrospectively registered (registration date 05/06/2017).

Systemic lupus erythematosus: state of the art on clinical practice guidelines.

Systemic lupus erythematosus (SLE) is the paradigm of systemic autoimmune diseases characterised by a wide spectrum of clinical manifestations with an unpredictable relapsing-remitting course. The aim of the present work was to identify current available clinical practice guidelines (CPGs) for SLE, to provide their review and to identify physicians' and patients' unmet needs. Twenty-three original guidelines published between 2004 and 2017 were identified. Many aspects of disease management are covered, including global disease management, lupus nephritis and neuropsychiatric involvement, management of pregnancies, vaccinations and comorbidities monitoring. Unmet needs relate with disease management of some clinical manifestations and adherence to treatment. Many patient's unmet needs have been identified starting with faster diagnosis, need for more therapeutic options, guidelines on lifestyle issues, attention to quality of life and adequate education.

Clinical Presentation and Long-Term Outcomes of Systemic Sclerosis Portuguese Patients from a Single Centre Cohort: A EUSTAR Registration Initiative.

INTRODUCTION: Systemic sclerosis is a complex disorder that requires systematic screening. Our objective is to report the European Scleroderma Trials and Research group centre affiliation and its impact in our clinical practice. MATERIAL AND METHODS: The European Scleroderma Trials and Research group affiliation process, database update and current patient evaluation, with respect to demographic and clinical features. Cumulative mortality was analysed. RESULTS: We identified 19 female patients (which met all the American College of Rheumatology/ European League Against Rheumatism 2013 criteria for systemic sclerosis) under current follow-up, divided according to the LeRoy classification into diffuse cutaneous (n = 5), limited cutaneous (n = 11) and limited (n = 3) types, followed for a median period of 5, 12 and 6 years, respectively. Raynaud´s phenomenon and abnormal nailfold capillaries were universally present. Interstitial lung disease was absent in the limited cutaneous form but present in 100% of the diffuse subtype. Pitting scars were more common in the diffuse form. Active disease was also more frequent in the diffuse form, and most patients with active disease were treated with anti-endothelin receptor antagonists. Over 21 years (from 1994 to 2015) the mortality rate was 55% (n = 23/42). Age at time of death was significantly lower in the diffuse subtype. DISCUSSION: Our single centre cohort shares many features with larger and international reports and more specifically is in accordance with patient characteristics described in the European Scleroderma Trials and Research group registries. CONCLUSION: The European Scleroderma Trials and Research group registration motivated our systematic patient characterization and may be used as a tool for homogenous disease registries.

Introdução: A esclerose sistémica é uma doença complexa que requer uma vigilância regular e sistemática. Este estudo teve como objetivo divulgar a afiliação da nossa Unidade no registo Europeu Scleroderma Trials and Research group e o seu impacto na prática clínica. Material e Métodos: Processo de afiliação Scleroderma Trials and Research group, atualização da base de dados, avaliação sistemática das características demográficas e clínicas dos doentes em seguimento e análise da mortalidade cumulativa. Resultados: Foram identificados 19 doentes do sexo feminino (com preenchimento completo dos critérios de classificação de esclerose sistémica do American College of Rheumatology/ European League Against Rheumatism 2013), seguidas no momento atual e divididas pela classificação de LeRoy em três formas: cutânea difusa (n = 5), cutânea limitada (n = 11) e limitada (n = 3), com um período de seguimento com uma duração mediana de 5, 12 e 6 anos, respetivamente. O fenómeno de Raynaud e as anomalias nos capilares peri-ungueais estavam presentes em todas as doentes. Todas as doentes com a forma difusa apresentavam doença intersticial pulmonar, ausente na forma cutânea limitada. As pitting scars foram mais frequentes na forma difusa. A doença ativa foi mais frequente na forma difusa, na sua maioria tratada com antagonistas dos recetores da endotelina. Num período de 21 anos (de 1994 a 2015), a mortalidade foi de 55% (n = 23/42). A expectativa de vida nos doentes com a forma difusa estava significativamente reduzida quando comparada com a forma localizada. Discussão: O nosso grupo de doentes é semelhante a outros de maiores dimensões e cariz internacional e, mais especificamente, enquadra-se nas características dos doentes registados nos registos Scleroderma Trials and Research group. Conclusão: O registo Scleroderma Trials and Research group incentivou uma caracterização sistemática e pode revelar-se um veículo para a criação de registos mais homogéneos.

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.

Hepatosplenic T-cell lymphoma: a rare cause of hepatosplenomegaly.

We report a case of a man presenting with an unexplained fever, pancytopenia and hepatosplenomegaly without lymphadenopathy. Bone marrow flow cytometry strongly suggested hepatosplenic γδ T-cell lymphoma and infiltration of bone marrow samples by pathological T-lymphocytes confirmed the diagnosis. Despite chemotherapy the patient died 1 year after diagnosis. This is a rare disease that should be considered in the differential diagnosis of hepatosplenomegaly especially when it presents with B-symptoms and no lymph node enlargement. There is no standard therapy and the prognosis is poor.

Systemic mastocytosis - a diagnostic challenge.

Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included.

Systemic mastocytosis - a diagnostic challenge

Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included.

Eosinophilic enteritis: a rare cause of diarrhoea.

We report a case of a healthy young man presenting with 1-week history of diarrhoea, acute abdominal pain and weight loss. Laboratory investigation showed very high peripheral eosinophils levels. After exclusion of the other causes of eosinophilia, a histological bowel sample analysis revealed marked eosinophilic infiltration of a small bowel mucosal layer which confirmed the suspicion of eosinophilic enteritis. Unlike most of the described cases, this patient did not require any specific treatment. Eosinophilic gastroenteritis is a rare and heterogeneous disease that is probably underdiagnosed in clinical practice because it requires a high degree of suspicion and an endoscopic biopsy for definite diagnosis.