Centro Hospitalar do Porto
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Managing Musculoskeletal Pain in Older Adults Through a Digital Care Solution: Secondary Analysis of a Prospective Clinical Study
Get PDFBackground: Aging is closely associated with an increased prevalence of musculoskeletal conditions. Digital musculoskeletal care interventions emerged to deliver timely and proper rehabilitation; however, older adults frequently face specific barriers and concerns with digital care programs (DCPs).
Objective: This study aims to investigate whether known barriers and concerns of older adults impacted their participation in or engagement with a DCP or the observed clinical outcomes in comparison with younger individuals.
Methods: We conducted a secondary analysis of a single-arm investigation assessing the recovery of patients with musculoskeletal conditions following a DCP for up to 12 weeks. Patients were categorized according to age: ≤44 years old (young adults), 45-64 years old (middle-aged adults), and ≥65 years old (older adults). DCP access and engagement were evaluated by assessing starting proportions, completion rates, ability to perform exercises autonomously, assistance requests, communication with their physical therapist, and program satisfaction. Clinical outcomes included change between baseline and program end for pain (including response rate to a minimal clinically important difference of 30%), analgesic usage, mental health, work productivity, and non-work-related activity impairment.
Results: Of 16,229 patients, 12,082 started the program: 38.3% (n=4629) were young adults, 55.7% (n=6726) were middle-aged adults, and 6% (n=727) were older adults. Older patients were more likely to start the intervention and to complete the program compared to young adults (odds ratio [OR] 1.72, 95% CI 1.45-2.06; P<.001 and OR 2.40, 95% CI 1.97-2.92; P<.001, respectively) and middle-aged adults (OR 1.22, 95% CI 1.03-1.45; P=.03 and OR 1.38, 95% CI 1.14-1.68; P=.001, respectively). Whereas older patients requested more technical assistance and exhibited a slower learning curve in exercise performance, their engagement was higher, as reflected by higher adherence to both exercise and education pieces. Older patients interacted more with the physical therapist (mean 12.6, SD 18.4 vs mean 10.7, SD 14.7 of young adults) and showed higher satisfaction scores (mean 8.7, SD 1.9). Significant improvements were observed in all clinical outcomes and were similar between groups, including pain response rates (young adults: 949/1516, 62.6%; middle-aged adults: 1848/2834, 65.2%; and older adults: 241/387, 62.3%; P=.17).
Conclusions: Older adults showed high adherence, engagement, and satisfaction with the DCP, which were greater than in their younger counterparts, together with significant clinical improvements in all studied outcomes. This suggests DCPs can successfully address and overcome some of the barriers surrounding the participation and adequacy of digital models in the older adult population.info:eu-repo/semantics/publishedVersio
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era
Get PDFMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.info:eu-repo/semantics/publishedVersio
Acute total occlusion of the unprotected left main coronary artery: Patient characteristics and outcomes
No full textIntroduction and objectives: Acute total occlusion of the unprotected left main coronary artery (LMCA) is a dramatic event. There are limited data regarding this population. We aimed to describe the clinical presentation and outcomes of patients and to determine predictors of in-hospital mortality.
Methods: This retrospective study included patients presenting with acute (<12 h) myocardial infarction due to total occlusion of the LMCA (TIMI flow 0) between January 2008 and December 2020 in three tertiary hospitals.
Results: During this period, 11036 emergent coronary angiographies were performed, 59 (0.5%) of which revealed acute total occlusion of the LMCA. Patients' mean age was 61.2 (SD±12.2) years and 73% were male. No patients had left dominance. At presentation, 73% were in cardiogenic shock, aborted cardiac arrest occurred in 27% and 97% underwent myocardial revascularization. Primary percutaneous coronary intervention was performed in 90% of cases and angiographic success was achieved in 56% of procedures, while 7% of patients underwent surgical revascularization. In-hospital mortality was 58%. Among survivors, 92% and 67% were alive after one and five years, respectively. After multivariate analysis, only cardiogenic shock and angiographic success were independent predictors of in-hospital mortality. Use of mechanical circulatory support and presence of well-developed collateral circulation were not predictive of short-term prognosis.
Conclusion: Acute total occlusion of the LMCA is associated with a dismal prognosis. Cardiogenic shock and angiographic success play a major role in predicting the prognosis of these patients. The effect of mechanical circulatory support on patient prognosis remains to be determined.info:eu-repo/semantics/publishedVersio
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
Get PDFntellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient's phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.info:eu-repo/semantics/publishedVersio
Blunt Trauma and Right Diaphragmatic Rupture: Unveiling the Impact
Get PDFTraumatic diaphragmatic ruptures are rare, yet blunt injuries tend to be more easily overlooked compared to penetrating trauma. The minimal evidence of external injuries makes a high index of suspicion key for diagnosis. We report the case of a right-sided thoracoabdominal blunt trauma that resulted in a diaphragmatic rupture and fractured rib. Although often approached through a midline laparotomy, a definitive right thoracotomy repair was exceptionally performed since the adjacent peritoneum remained uninjured.info:eu-repo/semantics/publishedVersio
Iatrogenic Cushing’s Syndrome: The Result of Cobicistat and Glucocorticoid Interaction in an HIV Patient After Bariatric Surgery
Get PDFCobicistat, used as a pharmacokinetic booster in therapeutic combination with human immunodeficiency virus (HIV) protease inhibitors and integrase inhibitors, is a strong inhibitor of cytochrome P450 3A4 (CYP3A4). Since most glucocorticoids are metabolized by the isoenzyme of the cytochrome P450 pathway, their plasma concentrations can be highly increased in the presence of cobicistat-boosted darunavir, with subsequent risk of iatrogenic Cushing's syndrome (ICS) and secondary adrenal insufficiency. We report a case of a 45-year-old man with HIV-hepatitis C virus co-infection treated with raltegravir and darunavir/cobicistat since 2019. In May 2021, he underwent a sleeve gastrectomy due to morbid obesity (BMI: 50.9 kg/m2) with multiple comorbidities. Four months after surgery, he was diagnosed with asthma and was started on inhaled budesonide, which was later changed to fluticasone propionate. At the 12-month postoperative visit, the patient referred proximal muscle weakness and asthenia, and suboptimal weight loss (excess weight loss of 39%) and high blood pressure were documented. Moon facies, buffalo hump, and abdominal large vinous striae were evident on physical examination. Laboratory studies showed impaired glucose metabolism and hypokalemia. Cushing's syndrome was suspected and further investigation confirmed its iatrogenic origin. The diagnosis of ICS and consequent secondary adrenal insufficiency due to an interaction between the darunavir/cobicistat combination and budesonide/fluticasone was established. Darunavir/cobicistat therapy was replaced by dolutegravir/doravirine dual therapy, inhaled corticoid was switched to beclomethasone, and glucocorticoid substitutive therapy was introduced. This is a particular case of overt ICS due to cobicistat-inhaled corticosteroid interaction in a superobese patient, developed after he underwent bariatric surgery. The presence of morbid obesity, combined with the rarity of this pharmacological complication in individuals taking cobicistat, made the correct diagnosis even more challenging. A meticulous review of pharmacologic habits and potential interactions is essential to avoid serious harm to patients.info:eu-repo/semantics/publishedVersio
Evaluation of Probable Sarcopenia’s Prevalence in Hospitalized Geriatric Patients Using Ishii’s Score
Get PDFBackground: Sarcopenia is defined as a progressive loss of skeletal muscle mass and strength related to age and comorbidities. Worldwide sarcopenia's prevalence varies between 10-40%, being associated with functional impairment, lower quality of life, and higher mortality. Sarcopenia can be estimated based on age, calf circumference, and handgrip strength (Ishii's formula). Early diagnosis is essential because treatment with nutritional support and rehabilitation programs can prevent complications. The aim of the study was to assess the prevalence of probable sarcopenia in hospitalized patients using Ishii's score and possible associated risk factors.
Methods: We developed an observational prospective study in a medicine inpatient ward of a Central Hospital. We applied Ishii's formula to the patients admitted to the medical ward in December 2021 and January 2022. Patients should be aged 60 or above and able to collaborate with the tests. One year later, we analyzed re-hospitalization and mortality rates. Patients with edema of the lower limbs, who were not able to follow instructions, and who were admitted exclusively for symptomatic treatment were excluded.
Results: Our final sample was 49 patients (55% males, mean age 78 ± 8.88 years). Only one patient had a previous diagnosis of sarcopenia. Estimated sarcopenia´s prevalence was 73.5% N=36), higher in men and people with three or more comorbidities. In the sarcopenic group, 77% had some degree of functional dependency and positive markers for malnutrition. After one year of follow-up, we found a higher mortality rate in the sarcopenic group (44.4% against 7.6%) and a higher number of re-hospitalizations (1.03 hospitalizations per patient, against 0.31).
Conclusions: Our data showed that the prevalence of probable sarcopenia is high, but this pathology is still underdiagnosed. Traditional diagnosis is complex in some hospital settings and a simple tool such as Ishii's score can help to improve diagnostic rates. We suggest screening all patients at admission to provide early rehabilitation and nutritional support.info:eu-repo/semantics/publishedVersio
Methadone Withdrawal-Related Psychosis in a Patient With Hormone-Dependent Breast Cancer: A Case Report
Get PDFMethadone withdrawal usually presents as a classical opiate withdrawal syndrome, including symptoms such as restlessness, pupillary dilation, sweating, insomnia, irritability, sneezing, nausea, vomiting, and diarrhea. It rarely manifests as psychosis. Here, we discuss the case of a 43-year-old female with a history of long-term methadone use who presented with first-episode psychosis during methadone down-titration. She exhibited persecutory delusions and auditory hallucinations, unrelated to classical opiate withdrawal symptoms. Medical tests were unremarkable. The patient was diagnosed with first-episode psychosis and was involuntarily admitted to our psychiatric hospital. As she suffered from hormone-dependent breast cancer and presented paliperidone-induced hyperprolactinemia, we switched this drug to aripiprazole, a prolactin-sparing antipsychotic. Her psychotic symptoms remitted in six weeks, with no reintroduction of methadone. It remains unclear whether this presentation is attributable to a rare manifestation of withdrawal or methadone's antipsychotic properties, masking an underlying psychotic disorder. This case contributes to understanding psychosis emergence post-opioid withdrawal, underscoring the need for further investigation into withdrawal-related psychosis and opioid antipsychotic properties. It also prompts the discussion of antipsychotic treatment in patients with comorbid breast cancer, while evidence about hyperprolactinemia as a risk factor for breast cancer remains conflictinginfo:eu-repo/semantics/publishedVersio
Ewing Sarcoma Developed at the Site of Previous Mast Cell Proliferation
Get PDFKIT gene mutations in Ewing sarcomas are rare; however, they are much more frequent in other neoplasms, namely mastocytosis. We describe a case of an adult male with a one-year duration of recurrent episodes of pain, swelling, and redness on the proximal phalanx of the third finger of his right hand. A core biopsy suggested a possible mastocytosis. After four years of recurrent episodes and worsening symptoms, an incisional biopsy revealed an Ewing sarcoma with a KIT gene mutation (M541L, on exon 10). KIT gene mutations with gain-of-function were identified in 2.6% of Ewing sarcomas. In this case, the detection of a KIT mutation in an Ewing sarcoma developed at the site of previous mast cell proliferation raises the hypothesis of a possible sarcomatous evolution of the original lesion. To the best of our knowledge, similar cases are not described in the current literature. This is also the first report describing the KIT M541L mutation (exon 10) in Ewing sarcomainfo:eu-repo/semantics/publishedVersio
Uma Apresentação Atípica e Não-Cardíaca de Cardiomiopatia Hipertrófica
Get PDFinfo:eu-repo/semantics/publishedVersio