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Trials Mar 2024Pulmonary rehabilitation (PR) is a programme of exercise and education and the most effective treatment for the symptoms and disability associated with chronic...
The IMPROVE trial: study protocol for a pragmatic cluster randomised controlled trial to assess the effectiveness of using lay health workers to improve uptake and completion of pulmonary rehabilitation in patients with chronic obstructive pulmonary disease.
BACKGROUND
Pulmonary rehabilitation (PR) is a programme of exercise and education and the most effective treatment for the symptoms and disability associated with chronic obstructive pulmonary disease. However, the benefits of PR are limited by poor uptake and completion. This trial will determine whether using trained volunteer lay health workers, called "PR buddies," improves uptake and completion of PR and is cost-effective. This trial protocol outlines the methods for evaluating effectiveness, cost-effectiveness, and acceptability.
METHODS
The IMPROVE trial is a pragmatic, open, cluster randomised controlled trial planned in 38 PR services across England and Wales. PR services will be randomised to either intervention arm-offering support from PR buddies to patients with chronic obstructive pulmonary disease-or to usual care as the control arm. PR staff in trial sites randomised to the intervention arm will receive training in recruiting and training PR buddies. They will deliver training to volunteers, recruited from among people who have recently completed PR in their service. The 3-day PR-buddy training programme covers communication skills, confidentiality, boundaries of the PR-buddy role and behaviour change techniques to help patients overcome obstacles to attending PR. An internal pilot will test the implementation of the trial in eight sites (four intervention sites and four in control arm). The primary outcome of the trial is the uptake and completion of PR. A process evaluation will investigate the acceptability of the intervention to patients, PR staff and the volunteer PR buddies, and intervention fidelity. We will also conduct a cost-effectiveness analysis.
DISCUSSION
Improving outcomes for chronic obstructive pulmonary disease and access to PR are priorities for the UK National Health Service (NHS) in its long-term plan. The trial hypothesis is that volunteer PR buddies, who are recruited and trained by local PR teams, are an effective and cost-effective way to improve the uptake and completion rates of PR. The trial is pragmatic, since it will test whether the intervention can be incorporated into NHS PR services. Information obtained in this trial may be used to influence policy on the use of PR buddies in PR and other similar services in the NHS.
TRIAL REGISTRATION
ISRCTN12658458. Registered on 23/01/2023.
Topics: Humans; Cost-Benefit Analysis; England; Exercise; Pulmonary Disease, Chronic Obstructive; Quality of Life; Randomized Controlled Trials as Topic; State Medicine; Treatment Outcome; Pragmatic Clinical Trials as Topic
PubMed: 38500191
DOI: 10.1186/s13063-024-07998-x -
Journal of Surgical Case Reports Mar 2024Pneumomediastinum and subcutaneous emphysema usually result from alveolar rupture and rarely from colonic perforation. Although steroid use has been shown to increase...
Pneumomediastinum and subcutaneous emphysema usually result from alveolar rupture and rarely from colonic perforation. Although steroid use has been shown to increase the risk of complicated diverticulitis, there is limited data on the role Addison's disease may play in the development of colonic perforation. We present a rare case of a patient with Addison's disease who presented with hoarseness and was found to have massive subcutaneous emphysema, pneumomediastinum, and pneumoretroperitoneum secondary to complicated diverticulitis.
PubMed: 38495049
DOI: 10.1093/jscr/rjad566 -
Annals of Medicine and Surgery (2012) Mar 2024Allgrove syndrome (AS) (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for...
INTRODUCTION AND IMPORTANCE
Allgrove syndrome (AS) (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (alacrima, achalasia, adrenal insufficiency, neurologic disorder). AS can manifest with a plethora of symptoms. Early recognition of the syndrome remains challenging due to its rarity and progressive nature. This report presents an unusual case of triple-A syndrome (TAS) with concurrent neuromuscular manifestations. Understanding the atypical presentation of this syndrome is vital for early diagnosis and appropriate management.
CASE PRESENTATION
We report a 16-year-old boy with severe malnutrition presented with painful swallowing, fatigue, and bilateral congenital ptosis. Barium swallow, upper gastrointestinal endoscopy, and Shimmer test were performed, which led to the diagnosis of TAS. Treatment included laparoscopic Heller's procedure, artificial tears, hydrocortisone.
CLINICAL DISCUSSION
TAS, also known as AS, is a rare multisystem disorder characterized by achalasia, Addison's disease, and alacrima. This syndrome is occasionally referred to as 4A syndrome due to the inclusion of autonomic dysfunction. There is no treatment for AS. Management includes artificial tears for alacrima, glucocorticoid replacement therapy to treat adrenal insufficiency, and treatment of achalasia.
CONCLUSION
This case emphasizes the importance of considering atypical presentations of TAS. Early diagnosis and treatment are paramount in addressing the varied components of this rare disorder. Understanding the clinical complexities of this syndrome aids in improved patient care and underscores the necessity for comprehensive evaluation and management in similar cases.
PubMed: 38463068
DOI: 10.1097/MS9.0000000000001779 -
Cureus Feb 2024Pheochromocytoma or paraganglioma (PPGL) originating from chromaffin cells can produce diverse hormones in addition to catecholamines, including adrenocorticotropic...
Pheochromocytoma or paraganglioma (PPGL) originating from chromaffin cells can produce diverse hormones in addition to catecholamines, including adrenocorticotropic hormone (ACTH). In pheochromocytoma, high levels of ACTH might not result in pigmentation as typically observed in Addison's disease, and patients might not exhibit the symptoms of Cushing's syndrome, despite ACTH-dependent hypercortisolism. A 63-year-old male patient with hypertension was admitted to our facility, and computed tomography (CT) revealed a large right adrenal tumor. Despite high plasma ACTH (700-1300 pg/mL) and serum cortisol (90-100 µg/dL) levels, no physical pigmentation or Cushingoid symptoms were observed. Urinary metanephrine and normetanephrine levels reached as high as 16.0 mg and 3.2 mg, respectively. I-metaiodobenzylguanidine (MIBG) scintigraphy was negative. Low-dose dexamethasone paradoxically increased ACTH and cortisol levels, indicating the potential positive feedback regulation of both hormones by glucocorticoids. The patient was diagnosed with an ACTH-producing pheochromocytoma and underwent successful laparoscopic surgery to remove the adrenal tumor under the intravenous administration of a high-dose α-blocker and hydrocortisone. The levels of ACTH, cortisol, and urinary metanephrine/normetanephrine returned close to normal after tumor removal. We report a rare case of pheochromocytoma with extremely high ACTH/cortisol production but without pigmentation or Cushingoid symptoms. We also reviewed previous reports of ACTH-producing PPGL regarding the paradoxical regulation of ACTH/cortisol by glucocorticoids, pigmentation, Cushingoid symptoms, and negativity of I-MIBG scintigraphy.
PubMed: 38435205
DOI: 10.7759/cureus.53358 -
Journal of Cardiovascular Magnetic...Identification of risk factors for biventricular (BiV) repair in children with hypoplastic left ventricles (HLV) has been challenging. We sought to identify preoperative...
BACKGROUND
Identification of risk factors for biventricular (BiV) repair in children with hypoplastic left ventricles (HLV) has been challenging. We sought to identify preoperative cardiovascular magnetic resonance (CMR) predictors of outcome in patients with HLVs who underwent BiV repair, with a focus on the mitral valve (MV).
METHODS
Single-center retrospective analysis of preoperative CMRs on patients with HLV (≤50 mL/m) and no endocardial fibroelastosis who underwent BiV repair from 2005-2022. CMR measurements included MV orifice area in diastole. The primary composite outcome included time to death, transplant, BiV takedown, heart failure admission, left atrial decompression, or unexpected reoperation; and the secondary outcome included more than or equal to moderate mitral stenosis and/or regurgitation.
RESULTS
Median follow-up was 0.7 (interquartile range 0.1, 2.2) years. Of 122 patients [59 atrioventricular canal (AVC) and 63 non-AVC] age 3 ± 2.8 years at the time of BiV repair, freedom from the primary outcome at 2 years was 53% for AVC and 69% for non-AVC (log rank p = 0.12), and freedom from the secondary outcome at 2 years was 49% for AVC and 79% for non-AVC (log rank p < 0.01). Independent predictors of primary outcome for AVC patients included MV orifice area z-score <-2 and transitional AVC; for non-AVC patients, predictors included MV orifice area z-score <-2, abnormal MV anatomy, and conal-septal ventricular septal defect. Independent predictors of secondary outcome for AVC patients included older age at surgery, transitional AVC, and transposition of the great arteries.
CONCLUSION
In children with HLV, low MV orifice area and pre-existing MV pathology are risk factors for adverse outcome after BiV repair.
Topics: Humans; Retrospective Studies; Female; Male; Mitral Valve; Hypoplastic Left Heart Syndrome; Risk Factors; Child, Preschool; Time Factors; Infant; Cardiac Surgical Procedures; Predictive Value of Tests; Risk Assessment; Treatment Outcome; Child; Mitral Valve Insufficiency; Ventricular Function, Left
PubMed: 38403073
DOI: 10.1016/j.jocmr.2024.101029 -
Cureus Jan 2024Autoimmune polyglandular syndrome II (APS-II), also known as Schmidt syndrome, is a rare endocrine disorder characterized by endocrine and non-endocrine illnesses....
Autoimmune polyglandular syndrome II (APS-II), also known as Schmidt syndrome, is a rare endocrine disorder characterized by endocrine and non-endocrine illnesses. Addison's disease and at least one additional autoimmune condition, such as autoimmune thyroid disease or type 1 diabetes mellitus (T1DM), are features of APS-II. It can result from genetic and non-genetic factors. We present a case of a 60-year-old female patient with a history of T1DM and a recent diagnosis of Hashimoto's thyroiditis who was admitted to the nephrology department for hyponatremia. Investigations showed the presence of adrenal insufficiency (AI), so she was diagnosed with APS-II and had the full triad of this syndrome. Thus, it is important to think about the diagnosis of AI or other autoimmune conditions in a patient who already has one or more autoimmune diseases.
PubMed: 38361732
DOI: 10.7759/cureus.52372 -
Cureus Jan 2024This case study delves into the unusual presentation of non-small cell lung carcinoma (NSCLC), where bilateral hemorrhagic adrenal metastasis served as the primary...
This case study delves into the unusual presentation of non-small cell lung carcinoma (NSCLC), where bilateral hemorrhagic adrenal metastasis served as the primary indication of an underlying malignancy. Our patient, a 58-year-old male, sought medical attention due to acute abdominal pain and lower back discomfort, leading to an in-depth diagnostic exploration. Radiological examinations revealed bilateral adrenal masses exhibiting hemorrhagic characteristics, a distinctive feature not commonly associated with NSCLC. The subsequent biopsy and histopathological analysis definitively identified metastatic NSCLC as the culprit. The uniqueness of this case lies in the bilateral nature of the metastasis and the presence of hemorrhagic elements, challenging traditional diagnostic expectations. This report emphasizes the necessity for a nuanced approach to diagnostic investigations when confronted with atypical presentations, especially considering the rarity of bilateral involvement and hemorrhagic features in adrenal metastases from NSCLC. It highlights the importance of interdisciplinary collaboration between radiologists, pathologists, and oncologists to ensure accurate and timely diagnosis. The overarching significance of this case extends beyond its rarity; it underscores the imperative for healthcare practitioners to broaden their diagnostic considerations in the absence of conventional symptoms. By presenting this distinctive case, we contribute to the evolving understanding of the diverse clinical manifestations of NSCLC, advocating for heightened vigilance and comprehensive diagnostic approaches in the pursuit of early intervention and optimal patient care.
PubMed: 38347972
DOI: 10.7759/cureus.52109 -
World Journal of Clinical Cases Jan 2024Addison's disease (AD) is a rare but potentially fatal disease in Western countries, which can easily be misdiagnosed at an early stage. Severe adrenal tuberculosis (TB)...
BACKGROUND
Addison's disease (AD) is a rare but potentially fatal disease in Western countries, which can easily be misdiagnosed at an early stage. Severe adrenal tuberculosis (TB) may lead to depression in patients.
CASE SUMMARY
We report a case of primary adrenal insufficiency secondary to adrenal TB with TB in the lungs and skin in a 48-year-old woman. The patient was misdiagnosed with depression because of her depressed mood. She had hyperpigmentation of the skin, nails, mouth, and lips. The final diagnosis was adrenal TB that resulted in the insufficient secretion of adrenocortical hormone. Adrenocortical hormone test, skin biopsy, T cell spot test of TB, and adrenal computed tomography scan were used to confirm the diagnosis. The patient's condition improved after hormone replacement therapy and TB treatment.
CONCLUSION
Given the current status of TB in high-burden countries, outpatient doctors should be aware of and pay attention to TB and understand the early symptoms of AD.
PubMed: 38292640
DOI: 10.12998/wjcc.v12.i1.217