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Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees
Get PDFBackground: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.
Objective: Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD.
Methods: Clinical screening for PD in 229 FD patients belonging to 31 families, harbouring GLA gene mutation p.F113L, and subsequent pedigree analysis. Gender-stratified comparison of FD+/PD+ patients with their family members with FD but without PD (FD+/PD-) regarding Mainz scores, plasma & leukocytes α-GAL A enzymatic activity, urinary Gb3 and plasma Lyso-Gb3, vascular brain neuroimaging.
Results: Prevalence of PD in FD was 1.3% (3/229) (3% in patients aged ≥50 years). Three FD patients, one female (73 years old) (P1) and two males (60 and 65 years old) (P2 and P3), three different pedigrees, presented akinetic-rigid PD, with weak response to levodopa (16% - 36%), and dopaminergic deficiency on 18F-DOPA PET. No pathogenic mutations were found in a PD gene panel. FD+/PD+ patients had worse clinical severity of FD (above upper 75% IQR in Mainz scores), and cortico-subcortical white matter/small vessel lesions. P3 patient was under enzyme therapy, started 1 year before PD diagnosis. P2-P3 patients had higher leucocyte α-GAL A activity (2,2-3 vs.1,0 (median)(nmol/h/mg)).
Conclusion: We have shown a high prevalence of PD in a late-onset phenotype of FD, presenting high cerebrovascular burden and weak response to levodopa. Further studies will untangle how much of this PD phenotype is due to Gb3 deposition versus cerebrovascular lesions in the nigro-striatal network.info:eu-repo/semantics/publishedVersio
Vedolizumab-associated psoriasis: until where does gut selectivity go?
Get PDFInflammatory Bowel Disease and Psoriasis are chronic inflammatory diseases that share common genotype, clinical course, and immunological features, although its relationship is still unclear. We report a 34-year-old woman with ileal Crohn's disease diagnosed 14 years ago, with the development of extensive, exudative scalp lesions after adalimumab therapy. Biopsies from skin lesions were compatible with vulgar psoriasis. The patient reports no personal or family history of psoriasis. Due to persistence and further worsening of skin lesions, paradoxical etiology to adalimumab was presumed and the drug was stopped with complete resolution of skin lesions and intestinal disease in remission under methotrexate. Due to pregnancy-planification methotrexate was stopped and, 8 months-after, systemic steroid-therapy was introduced due to moderate-to-severe intestinal flare. Vedolizumab was started and at the second infusion patient reported hair loss with no other complaints. Twelve months after vedolizumab initiation the patient reported reappearance of the extensive scalp and peri-fistula psoriatic lesions. Topical therapy was started but unsuccessfully and given the progressive worsening of the lesions, vedolizumab was suspended, with skin improvement seen 1 month after discontinuation. There are few case-reports of vedolizumab acting as a trigger to some dermatological conditions in IBD-patients, including psoriasis. The molecular mechanism behind it isn't fully understood. We present and discuss, to our knowledge, the first case in the literature of psoriasis triggered by vedolizumab in Crohn's disease.info:eu-repo/semantics/publishedVersio
Recommendations for genetic testing in cardiology: Review of major international guidelines
Get PDFIn recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.Resumo
Nos últimos anos, tem sido crescente o reconhecimento das causas genéticas das doenças cardiovasculares resultado dos significativos progressos das técnicas laboratoriais. Este conhecimento tem permitido a identificação de «novos» fenótipos e a subclassificação das síndromes clínicas, tendo impacto nas decisões terapêuticas e no aconselhamento genético que é facultado às famílias.
No presente documento descreve‐se o «estado da arte» relativamente às principais recomendações para testes genéticos nas doenças cardiovasculares, pretendendo‐se providenciar uma ferramenta útil de consulta para cardiologistas e outros profissionais envolvidos na prestação nos cuidados de saúde a doentes com cardiopatias hereditárias e respetivas famílias.info:eu-repo/semantics/publishedVersio
Evidência Associada ao Uso de Oxazolidinonas no Tratamento de Infecções da Pele e das Estruturas da Pele: Estudo Retrospectivo
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A temporary corneal ectasia following airbag trauma
Get PDFPurpose: To report a case of a temporary corneal ectasia induced by airbag trauma.
Observations: A patient who suffered a road traffic accident with deployment of the frontal airbag and presented a corneal ectasia in both eyes after 3 months, without changes in visual acuity. After 9 months, he presented a significantly improvement, achieving his basal parameters in pentacam.
Conclusions and importance: This is a rare case of corneal ectasia induced by airbag trauma that spontaneously reverted and it can emphasize the viscoelastic properties of the human cornea.info:eu-repo/semantics/publishedVersio
β3 Adrenoceptor-induced cholinergic inhibition in human and rat urinary bladders involves the exchange protein directly activated by cyclic AMP 1 favoring adenosine release
Get PDFBackground and purpose: The mechanism by which β3 receptor agonists (e.g. mirabegron) control bladder overactivity may involve adenosine release from human and rat detrusor smooth muscle. Retrograde activation of adenosine A1 receptors reduces ACh release from cholinergic bladder nerves. β3 -Adrenoceptors usually couple to adenylyl cyclase. Here we investigated, which of the cAMP targets, protein kinase A or the exchange protein directly activated by cAMP (EPAC) could be involved in this cholinergic inhibition of the bladder.
Experimental approach: [3 H]ACh and adenosine release from urothelium-denuded detrusor strips of cadaveric human organ donors and rats were measured by liquid scintillation spectrometry and HPLC, respectively. In vivo cystometry was also performed in urethane-anaesthetized rats.
Key results: The exchange protein directly activated by cAMP (EPAC) inhibitor, ESI-09, prevented mirabegron- and isoprenaline-induced adenosine release from human and rat detrusor strips respectively. ESI-09, but not the PKA inhibitor, H-89, attenuated inhibition of [3 H]ACh release from stimulated (10 Hz) detrusor strips caused by activating β3 -adrenoceptors, AC (forskolin) and EPAC1 (8-CTP-2Me-cAMP). Isoprenaline-induced inhibition of [3 H]ACh release was also prevented by inhibitors of PKC (chelerythrine and Go6976) and of the equilibrative nucleoside transporter 1 (ENT1; dipyridamole and NBTI), but not by PLC inhibition with U73122. Pretreatment with ESI-09, but not with H-89, prevented the reduction of the voiding frequency caused by isoprenaline and forskolin in vivo.
Conclusion and implications: Data suggest that β3 -adrenoceptor-induced inhibition of cholinergic neurotransmission in human and rat urinary bladders involves activation of an EPAC1/PKC pathway downstream cAMP production resulting in adenosine outflow via ENT1.This research was partially supported by Fundação para a Ciência e a Tecnologia (FCT, FEDER funding, projects Grants PTDC/SAU-OSM/104369/2008, REEQ/1168/SAU/2005, REEQ/1264/SAU/2005, Pest-OE/SAU/UI215/2014, UID/BIM/4308/2016, and UID/BIM/4308/2019), Associação Portuguesa de Urologia (APU), and University of Porto/Caixa Geral de Depósitos (Investigação Científica na Pré-Graduação). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. I.S. was in receipt for a PhD Studentship from FCT (Grant SFRH/BD/88855/2012). The authors wish to thank Mrs. Helena Costa e Silva and Belmira Silva for their valuable technical assistance.info:eu-repo/semantics/publishedVersio
Loss of Awareness after Continuous Apomorphine Infusion Withdrawal in Parkinson’s Disease
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Caso clínico imagiológico
Get PDFHere in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.
VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.info:eu-repo/semantics/publishedVersio
The effects of topical antibiotics on eradication and acquisition of third-generation cephalosporin and carbapenem-resistant Gram-negative bacteria in ICU patients; a post hoc analysis from a multicentre cluster-randomized trial
Get PDFObjectives: The aim was to quantify the effects of selective digestive tract decontamination (SDD) consisting of a mouth paste and gastro-enteral suspension, selective oropharyngeal decontamination with a mouth paste (SOD) and 1-2% chlorhexidine (CHX) mouthwash on eradication and acquisition of carriage of third-generation cephalosporin-resistant Enterobacterales (3GCR-E) and carbapenem-resistant Gram-negative bacteria (CR-GNB) in Intensive Care Unit (ICU) patients.
Methods: This was a nested cohort study within a cluster-randomized cross-over trial in six European countries and 13 ICUs with 8665 patients. Eradication and acquisition during ICU stay of 3GCR-E and CR-GNB were investigated separately in the rectum and respiratory tract for the three interventions and compared with standard care (SC) using Cox-regression competing events analyses.
Results: Adjusted cause specific hazard ratios (CSHR) for eradication of rectal carriage for SDD were 1.76 (95% CI 1.31-2.36) for 3GCR-E and 3.17 (95% CI 1.60-6.29) for CR-GNB compared with SC. For the respiratory tract, adjusted CSHR for eradication of 3GCR-E were 1.47 (0.98-2.20) for SDD and 1.38 (0.92-2.06) for SOD compared with SC, and for eradication of CR-GNB these were 0.77 (0.41- 1.45) for SDD and 0.81 (0.44-1.51) for SOD, compared with SC. Adjusted CSHRs for acquisition of rectal carriage during SDD (compared with SC) were 0.51 (0.40-0.64) for 3GCR-E and of 0.56 (0.40-0.78) for CR-GNB. Adjusted CSHRs for acquiring respiratory tract carriage with 3GCR-E compared with SC were 0.38 (0.28-0.50) for SDD and 0.55 (0.42-0.71) for SOD, and for CR-GNB 0.46 (0.33-0.64) during SDD and 0.60 (0.44-0.81) during SOD, respectively. SOD was not associated with eradication or acquisition of 3GCR-E and CR-GNB in the rectum. Conclusions: Among mechanically ventilated ICU patients, SDD was associated with more eradication and less acquisition of 3GCR-E and CR-GNB in the rectum than SC. SDD and SOD were associated with less acquisition of both 3GCR-E and CR-GNB than SC in the respiratory tract.info:eu-repo/semantics/publishedVersio
Primary cutaneous adenoid cystic carcinoma of the abdomen: a rare entity
Get PDFAdenoid cystic carcinoma is a rare neoplasm that arises from secretory glands, most frequently from the salivary glands. Primary cutaneous adenoid cystic carcinoma is microscopically identical to adenoid cystic carcinoma developing at other tissues. Therefore, differentiating between a primary cutaneous adenoid cystic carcinoma and an extracutaneous adenoid cystic carcinoma with cutaneous metastases is pivotal to determine its prognosis and management. We describe a case of primary cutaneous adenoid cystic carcinoma on the abdomen that was successfully treated with wide excisioninfo:eu-repo/semantics/publishedVersio