Centro Hospitalar do Porto
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Hospitalization Costs Due to Hypoglycemia in Patients with Diabetes: A Microcosting Approach
Get PDFIntroduction: Hypoglycemia leading to hospitalization is associated with adverse economic outcomes, although the real burden is unknown. The HIPOS-WARD (Hypoglycemia In Portugal Observational Study-Ward) aimed to characterize ward admissions due to hypoglycemia episodes in treated patients with diabetes and assess their economic impact to the National Health System.
Methods: Observational, cross-sectional study, conducted in 16 Portuguese centers for 22 months. The applied microcosting approach was based on healthcare resource data, collected from patients' charts upon ward admission until discharge, and unitary costs from official/public data sources. Absenteeism was also estimated for active workers on the basis of the human capital approach.
Results: Of the 176 patients with diabetes mellitus enrolled, 86% had type 2 diabetes. Half of the patients (50.0%) were on insulin-based therapy, followed by 30.1% on a secretagogue-based regimen, 9.7% on non-secretagogue therapy, and 10.2% on a combination of insulin and secretagogue. Overall mean costs per patient were medication, 45.45 €; laboratory analysis, 218.14 €; examinations, 64.91 €; physician and nurse time, 268.55 € and 673.39 €, respectively. Bed occupancy was the main cost driver (772.09 €) and indirect cost averaged 140.44 €. Overall, the cost per hypoglycemia episode leading to hospitalization averaged 2042.52 € (range 194.76-16,762.87 €). Patients treated with insulin-based regimens (2267.76 €) and type 2 diabetes (2051.29 €) had the highest mean costs. The mean cost increased with repeated hypoglycemic events (2191.67 €), correlated complications (2109.26 €), and death (5253.38 €).
Conclusion: HIPOS-WARD's findings confirm and support both the substantial clinical and economic impact of hospitalization due to hypoglycemia in Portugal.info:eu-repo/semantics/publishedVersio
Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy
Get PDFCo-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.info:eu-repo/semantics/publishedVersio
Viscous Leptomeningeal Pseudotumoural Masses and Multiple Cranial Neuropathy – Severe Presentation of Neurosarcoidosis
Get PDFWe present a case of a 56-year-old man with a history of episcleritis (left) and cluster headache (left) who had a penetrating trauma of the left eye leading to amaurosis 1 month previously. Since then, he developed multiple cranial neuropathy of the right side (V, VII, VIII, IX, X, XI and XII cranial pairs). Magnetic resonance imaging (MRI) revealed an infiltrative lesion of the base of the skull which extended to the retropharyngeal and jugular space, which progressed to multiple leptomeningeal masses extending to the clivus, despite aggressive immunosuppression. Rebiopsy of 1 meningeal mass supported the diagnosis of neurosarcoidosis. The patient finally responded to high-dose prolonged infliximab therapy, with complete remission.
Learning points: Neurosarcoidosis can present as multiple cranial neuropathy, with extensive nerve involvement depending on the brain and meningeal lesions.Large leptomeningeal pseudotumoural granulomatous masses should be promptly biopsied and lead to aggressive immunosuppressive treatment.Immunosuppressant weaning should be carried out cautiously to avoid rebound worsening.info:eu-repo/semantics/publishedVersio
Hipoxemia num adolescente: quando a causa está nas entrelinhas
Get PDFSpontaneous pneumomediastinum is a rare entity in pediatric age, with multifactorial etiology.
A 16-year-old male with multiple allergies (mites, dogs, cats, and grasses), daily smoker (one pack/day for one year), and regular cannabis, cocaine, and amphetamine consumer went to the Emergency Department of the local hospital with cough, dyspnea, chest pain, and fever with 12 hours of evolution. On physical examination, the boy presented facies complaints, polypnea, shortness of breath, extensive subcutaneous emphysema in the cervical region and right hemithorax, and diminished vesicular murmur bilaterally with expiratory wheezing. Chest x-ray was performed, revealing alterations compatible with pneumomediastinum and subcutaneous emphysema in the cervical region. Urine test was positive for tetrahydrocannabinoids. Atopy (IgE levels) study was performed, with positive result, and serological testing was performed for Mycoplasma pneumoniae, showing IgM of 33U/mL and IgG of 25U/mL.
In this clinical case, multiple pneumomediastinum triggering/predisposing factors can be identified, including marked smoking habits, acute mycoplasma infection, and inhaled and smoked drug consumption.
The aim of this study was to review the pathophysiology/semiology of pneumomediastinum and emphasize the importance of clinical suspicion.info:eu-repo/semantics/publishedVersio
The international European Academy of Neurology survey on neurological symptoms in patients with COVID‐19 infection
Get PDFBackground and purpose: Although the main clinical features of COVID-19 infection are pulmonary, several associated neurological signs, symptoms and diseases are emerging. The incidence and characteristics of neurological complications are unclear. For this reason, the European Academy of Neurology (EAN) core COVID-19 Task Force initiated a survey on neurological symptoms observed in patients with COVID-19 infection.
Methods: A 17-question online survey was made available on the EAN website and distributed to EAN members and other worldwide physicians starting on 9 April 2020.
Results: By 27 April 2020, proper data were collected from 2343 responders (out of 4199), of whom 82.0% were neurologists, mostly from Europe. Most responders (74.7%) consulted patients with COVID-19 mainly in emergency rooms and in COVID-19 units. The majority (67.0%) had evaluated fewer than 10 patients with neurological manifestations of COVID-19 (neuro COVID-19). The most frequently reported neurological findings were headache (61.9%), myalgia (50.4%), anosmia (49.2%), ageusia (39.8%), impaired consciousness (29.3%) and psychomotor agitation (26.7%). Encephalopathy and acute cerebrovascular disorders were reported at 21.0%. Neurological manifestations were generally interpreted as being possibly related to COVID-19; they were most commonly recognized in patients with multiple general symptoms and occurred at any time during infection.
Conclusion: Neurologists are currently and actively involved in the management of neurological issues related to the COVID-19 pandemic. This survey justifies setting up a prospective registry to better capture the prevalence of patients with neuro COVID-19, neurological disease characteristics and the contribution of neurological manifestations to outcome.info:eu-repo/semantics/publishedVersio
Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis
Get PDFIntroduction: Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, fatal, multisystem disease leading to deteriorating quality of life (QOL). The impact of patisiran on QOL in patients with hATTR amyloidosis with polyneuropathy from the phase 3 APOLLO study (NCT01960348) is evaluated.Methods: Patients received either patisiran 0.3 mg/kg (n = 148) or placebo (n = 77) intravenously once every three weeks for 18 months. Multiple measures were used to assess varying aspects of QOL.Results: At 18 months, compared with placebo, patisiran improved Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) score; (least squares [LS] mean difference: -21.1; p = 1.10 × 10-10; improved across all domains), EuroQoL 5-dimensions 5-levels (LS mean difference: 0.2; p = 1.4 × 10-12), EuroQoL-visual analog scale (LS mean difference: 9.5; p=.0004), Rasch-built Overall Disability Scale (LS mean difference: 9.0; p = 4.07 × 10-16) and Composite Autonomic Symptom Score-31(COMPASS-31; LS mean difference: -7.5; p=.0008). Placebo-treated patients experienced rapid QOL deterioration; treatment effects for patisiran were observed as early as 9 months. At 18 months, patisiran improved Norfolk QOL-DN total score and three individual domains as well as COMPASS-31 total scores relative to baseline. Consistent benefits were also observed in the cardiac subpopulation.Conclusion: The benefits of patisiran across all QOL measures and the rapid deterioration observed with placebo, highlight the urgency in early treatment for patients with hATTR amyloidosis with polyneuropathy.This study was funded by Alnylam Pharmaceuticalsinfo:eu-repo/semantics/publishedVersio
Cardiovascular rehabilitation in patients aged 70-year-old or older: benefits on functional capacity, physical activity and metabolic profile in younger vs. older patients
Get PDFBackground: The benefits of exercise-based cardiac rehabilitation (EBCR) programs in post-acute myocardial infarction (AMI) patients have been demonstrated. Our aim was to assess the impact of EBCR in ≥ 70-years-old vs. younger post-AMI patients.
Methods: We retrospectively evaluated patients who underwent a supervised EBCR protocol, twice a week during 6-12 weeks. We evaluated changes in several outcomes based on pre- and post-CRP assessments.
Results: Of a total of 1607 patients, 333 (21%) were ≥ 70-years-old. After the EBCR, an overall improvement on functional capacity, daily physical activity, lipid profile, body mass index, glycated hemoglobin (HbA1c), N-terminal pro-brain natriuretic peptide (NT-pro-BNP) and C-reactive protein was observed in both younger and older patients (P < 0.05). Older patients showed a smaller benefit on the increment of daily physical activity and lipid profile improvement, but a larger reduction in NT-pro-BNP. In the multivariate analysis, only improvements on daily physical activity and HbA1c were dependent on age.
Conclusion: As their younger counterparts, older patients, significantly improved functional capacity, metabolic parameters and level of daily physical activity after EBCR.info:eu-repo/semantics/publishedVersio
Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis
Get PDFHereditary transthyretin-mediated (hATTR) amyloidosis is a progressive, debilitating disease often resulting in early-onset, life-impacting autonomic dysfunction. The effect of the RNAi therapeutic, patisiran, on autonomic neuropathy manifestations in patients with hATTR amyloidosis with polyneuropathy in the phase III APOLLO study is reported. Patients received patisiran 0.3 mg/kg intravenously (n = 148) or placebo (n = 77) once every 3 weeks for 18 months. Patisiran halted or reversed polyneuropathy and improved quality of life from baseline in the majority of patients. At baseline, patients in APOLLO had notable autonomic impairment, as demonstrated by the Composite Autonomic Symptom Score-31 (COMPASS-31) questionnaire and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire autonomic neuropathy domain. At 18 months, patisiran improved autonomic neuropathy symptoms compared with placebo [COMPASS-31, least squares (LS) mean difference, - 7.5; 95% CI: - 11.9, - 3.2; Norfolk QOL-DN autonomic neuropathy domain, LS mean difference, - 1.1; - 1.8, - 0.5], nutritional status (modified body mass index, LS mean difference, 115.7; - 82.4, 149.0), and vasomotor function (postural blood pressure, LS mean difference, - 0.3; - 0.5, - 0.1). Patisiran treatment also led to improvement from baseline at 18 months for COMPASS-31 (LS mean change from baseline, - 5.3; 95% CI: - 7.9, - 2.7) and individual domains, orthostatic intolerance (- 4.6; - 6.3, - 2.9) and gastrointestinal symptoms (- 0.8; - 1.5, - 0.2). Rapid worsening of all study measures was observed with placebo, while patisiran treatment resulted in stable or improved scores compared with baseline. Patisiran demonstrates benefit across a range of burdensome autonomic neuropathy manifestations that deteriorate rapidly without early and continued treatment.The study was funded by Alnylam Pharmaceuticals, Inc. Medical writing services provided by Kristen Brown (PhD) of Adelphi Communications Ltd, Macclesfeld, UK were funded by Alnylam Pharmaceuticals, Inc. in accordance with Good Publication Practice (GPP3) guidelines. We would like to thank Anastasia McManus (Alnylam Pharmaceuticals, Inc.) for her assistance during preparation of this manuscript.info:eu-repo/semantics/publishedVersio
A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis
Get PDFDespite much effort to improve treatments, patients with malignant glioma still present a very poor prognosis that has not changed significantly in the last decades. In this context, it is crucial to better understand glioma pathogenesis to identify new molecular prognostic subgroups and therapeutic targets. WNT6 was recently identified as a new oncogenic molecule in glioblastoma (GBM), with prognostic value in patients, but the mechanisms underlying WNT6 aberrant expression in glioma are still unknown. WNT6 was overexpressed in a subset of gliomas independently of IDH mutations, 1p/19q codeletion status, and WNT6 gene copy number. Interestingly, WNT6 expression is associated with the DNA methylation levels of particular CpG regions at both the WNT6 promoter and the gene body in glioma patient samples. HOXA9, a transcription factor previously associated with poorer clinical outcome in GBM, was identified as a novel transcriptional regulator of WNT6, activating the WNT/β-catenin pathway in vitro and in vivo. In various cohorts of glioma patients, mRNA levels of WNT6 and HOXA9 were significantly correlated, extending our in vitro and in vivo findings into the clinical setting. Interestingly, this novel molecular link between WNT6 and HOXA9 was not limited to glioma, as they were co-expressed also in patients with other tumor types. Clinically, WNT6 was a prognostic biomarker of shorter survival in GBM, independently of HOXA9 expression. Concomitant high expression of both WNT6 and HOXA9 identified a subgroup of patients with particularly dismal survival. These findings describe novel WNT6 regulatory mechanisms in GBM, establishing particular DNA methylation patterns and HOXA9 as critical regulators of WNT6 expression in glioma. This HOXA9-WNT6 molecular link supports WNT signaling in GBM cells and is a powerful prognostic biomarker, highlighting the clinical relevance of this axis in patients. Novel therapies targeting WNT6-HOXA9 signaling may thus be useful for this deadly disease.info:eu-repo/semantics/publishedVersio
Anuário Científico do CHUP 2019
No full textO Anuário Científico de 2019 é um documento integrador da produção científica do Centro Hospitalar Universitário do Porto (CHUP). O Serviço de Investigação Clínica do Departamento de Ensino, Formação e Investigação (DEFI), com a edição deste anuário, pretende partilhar a atividade científica hospitalar com a comunidade e os seus profissionaisinfo:eu-repo/semantics/publishedVersio