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Parathyroid carcinoma: From a case report to a review of the literature
No full textParathyroid carcinoma is a rare endocrine malignancy. The reported incidence is from 0.5 to 5% of primary hyperparathyroidism cases in various series. Consideration of parathyroid carcinoma in the differential diagnosis of hypercalcaemic disorders is important because the morbidity and mortality are substantial and the best prognosis is associated with early recognition and surgical resection.info:eu-repo/semantics/publishedVersio
Perinatal clinical case
No full textA 16-day-old male was observed at the Emergency Department for a right cervical mass noticed on the same day by the parents, with no other associated symptoms. He was a fullterm child, delivered by vacuum extraction, with an uneventful perinatal period.
At the time of physical examination, a cervical mass was palpable in the inferior portion of the right sternocleidomastoid muscle, in association with ipsilateral torticollis.
Cervical ultrasound revealed a fusiform thickening of the sternocleidomastoid muscle, with well-defined, hypoechoic margins, confirming the diagnosis of fibromatosis colli.
Parents were instructed to adopt positioning measures and physical therapy was initiated, with clinical resolution by seven months of age.
Fibromatosis colli is the most severe presentation of congenital muscular torticollis. Although typical clinical findings usually enable the diagnosis, cervical ultrasound is useful to confirm muscular origin of the mass.
Torticollis in the opposite direction of the mass, spinal deformities, abnormal eye movements, or other abnormal neurological findingsUm recém-nascido de 16 dias, do sexo masculino, foi observado no Serviço de Urgência devido a uma tumefação cervical direita, observada no próprio dia pelos pais. Tratava-se de um recém-nascido de termo, nascido de parto por ventosa, sem intercorrências no período perinatal.
Ao exame físico, apresentava uma tumefação na porção inferior do músculo esternocleidomastoideu direito, associada a torcicolo ipsilateral.
A ecografia cervical revelou um espessamento fusiforme do músculo esternocleidomastoideu, com margens bem delimitadas, hipoecóicas, confirmando o diagnóstico de fibromatose coli.
A instituição de medidas posturais foi recomendada aos pais e iniciado tratamento fisiátrico, com resolução clínica aos sete meses de idade.
A fibromatose coli constitui a apresentação mais grave de torcicolo muscular congénito. Embora os achados clínicos típicos geralmente possibilitem o diagnóstico, a ecografia cervical é útil na confirmação da origem muscular da massa.
Torcicolo na direção oposta à massa, deformidades da coluna vertebral ou alterações ao exame neurológico devem motivar a investigação de etiologias alternativas
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
Get PDFSIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.info:eu-repo/semantics/publishedVersio
Health-Related Quality of Life in Pulmonary Hypertension and Its Clinical Correlates: A Cross-Sectional Study
Get PDFBACKGROUND:
Health-related quality of life (HRQoL) impairment is common in pulmonary hypertension (PH), but its clinical predictors are not well established. This study aims to characterize the HRQoL of patients with pulmonary arterial hypertension (PAH) and other precapillary forms of PH (pcPH) and to explore its clinical correlates.
MATERIALS AND METHODS:
A cross-sectional, observational study of patients with documented PAH and other forms of pcPH. Patients completed two patient-reported outcome measures (PROM): Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) and Nottingham Health Profile (NHP). Clinical characteristics were retrieved from electronic medical records.
RESULTS:
Mean CAMPHOR and NHP scores for the study population were indicative of a moderate HRQoL impairment. Patients in World Health Organisation Functional Classes (WHO FC) III/IV showed significantly worse HRQoL. The main clinical correlates of HRQoL were WHO FC, 6-minute walking distance (6MWD), and Borg dyspnoea index. Overall quality of life (QoL), assessed through CAMPHOR's QoL domain, showed patterns comparable to HRQoL measured by both instruments.
CONCLUSIONS:
HRQoL, measured by two different PROMs, is impaired in Portuguese patients with PAH and other forms of pcPH, particularly in patients with increased disease severity. WHO FC, 6MWD, and Borg dyspnoea index are highly correlated with HRQoL and QoL.info:eu-repo/semantics/publishedVersio
Atypical pathogens in hospitalized patients with community-acquired pneumonia: a worldwide perspective
Get PDFBACKGROUND:
Empirical antibiotic coverage for atypical pathogens in community-acquired pneumonia (CAP) has long been debated, mainly because of a lack of epidemiological data. We aimed to assess both testing for atypical pathogens and their prevalence in hospitalized patients with CAP worldwide, especially in relation with disease severity.
METHODS:
A secondary analysis of the GLIMP database, an international, multicentre, point-prevalence study of adult patients admitted for CAP in 222 hospitals across 6 continents in 2015, was performed. The study evaluated frequency of testing for atypical pathogens, including L. pneumophila, M. pneumoniae, C. pneumoniae, and their prevalence. Risk factors for testing and prevalence for atypical pathogens were assessed through univariate analysis.
RESULTS:
Among 3702 CAP patients 1250 (33.8%) underwent at least one test for atypical pathogens. Testing varies greatly among countries and its frequency was higher in Europe than elsewhere (46.0% vs. 12.7%, respectively, p < 0.0001). Detection of L. pneumophila urinary antigen was the most common test performed worldwide (32.0%). Patients with severe CAP were less likely to be tested for both atypical pathogens considered together (30.5% vs. 35.0%, p = 0.009) and specifically for legionellosis (28.3% vs. 33.5%, p = 0.003) than the rest of the population. Similarly, L. pneumophila testing was lower in ICU patients. At least one atypical pathogen was isolated in 62 patients (4.7%), including M. pneumoniae (26/251 patients, 10.3%), L. pneumophila (30/1186 patients, 2.5%), and C. pneumoniae (8/228 patients, 3.5%). Patients with CAP due to atypical pathogens were significantly younger, showed less cardiovascular, renal, and metabolic comorbidities in comparison to adult patients hospitalized due to non-atypical pathogen CAP.
CONCLUSIONS:
Testing for atypical pathogens in patients admitted for CAP in poorly standardized in real life and does not mirror atypical prevalence in different settings. Further evidence on the impact of atypical pathogens, expecially in the low-income countries, is needed to guidelines implementation.info:eu-repo/semantics/publishedVersio
Visceral Obesity and Metabolic Syndrome Are Associated with Well-Differentiated Gastroenteropancreatic Neuroendocrine Tumors
Get PDFThe determinants for gastroenteropancreatic neuroendocrine tumors (GEP-NET) recent burden are matters of debate. Obesity and metabolic syndrome (MetS) are well established risks for several cancers even though no link with GEP-NETs was yet established. Our aim in this study was to investigate whether well-differentiated GEP-NETs were associated with obesity and MetS. Patients with well-differentiated GEP-NETs (n = 96) were cross-matched for age, gender, and district of residence with a control group (n = 96) derived from the general population in a case-control study. Patients presented gastro-intestinal (75.0%) or pancreatic (22.9%) tumors, grade G1 (66.7%) or G2 (27.1%) with localized disease (31.3%), regional metastasis (16.7%) or distant metastasis (43.8%) at diagnosis, and 45.8% had clinical hormonal syndromes. MetS was defined according to Joint Interim Statement (JIS) criteria. Well-differentiated GEP-NETs were associated with MetS criteria as well as the individual components' waist circumference, fasting triglycerides, and fasting plasma glucose (p = 0.003, p = 0.002, p = 0.011 and p < 0.001, respectively). The likelihood of the association was higher when the number of individual MetS components was greater than four. MetS and some individual MetS components including visceral obesity, dyslipidemia, and increased fasting glucose are associated with well-differentiated GEP-NET. This data provides a novel insight in unraveling the mechanisms leading to GEP-NET disease.This project was funded by a grant from Research Center of IPO-Porto (CI-IPOP 32-2015)info:eu-repo/semantics/publishedVersio
Horner Syndrome After Anterior Revision Surgery for Cervical Spondylotic Myelopathy: A Very Rare Complication: A Case Report
Get PDFWe report a case of postoperative left-sided Horner syndrome (blepharoptosis, miosis, and anhidrosis) after revision surgery for cervical spondylotic myelopathy. A C4 corpectomy and an anterior cervical fusion from C3 to C5 were performed through a left longitudinal approach in a patient with a surgical history of an anterior discectomy and a fusion from C5 to C6. One year after the revision surgery, the patient had recovered from the anhidrosis and the miosis, but the blepharoptosis was not fully resolved.
CONCLUSION:
Horner syndrome resulting from surgical injury to the ipsilateral cervical sympathetic chain is a very rare complication of anterior spine surgery that has been reported when the lower cervical levels have been approached. Awareness of this important cervical structure may help to avoid this complication.info:eu-repo/semantics/publishedVersio
Transitions of care management in CKD: critical thinking and improving strategies
Get PDFChronic kidney disease (CKD) has a high clinical and socioeconomic impact and is often associated with multimorbidity. Improved treatment has allowed an increase in patient survival, but patient life expectancy remains limited. The disease course has a continuum of lesion, stage and treatment transitions. The focus is often placed on treatment modality, disregarding the course of a CKD patient’s disease. In addition, patient management in transitions of modalities of renal replacement therapy (RRT) can also be a vector for improving clinical outcomes.
The transition between different types of CKD treatment and the transition of care from paediatric to adult team are critical processes throughout the life of a CKD patient. In the therapeutic transition, there is the need to identify better predictors of success in allocating patients with stage 5 CKD to their first dialytic modality in. There is a risk of early mortality in the induction period of dialysis, particularly of the elderly in extracorporeal dialysis regimens. Doubt remains in decision making about the ideal timing to establish the transition to renal replacement therapy and its most appropriate type. Transfer between dialytic modalities also calls for opportune and integrated policies protecting vascular resources. Renal transplantation is considered the optimal renal replacement therapy; however, transplant failure or the side effects of immunosuppression are threats to consider, which may redirect these patients back to dialysis and involves a re‑evaluation of the patient’s status. Also, end‑of‑life care and decision making between initiating renal replacement therapy or maintaining conservative management are a challenge in the elderly.
This review identifies the main challenges in these transitional processes, raising awareness of areas in need of improvement in patient care. The aim should be to achieve a more comprehensive and appropriate health management than a limited focus on CKD modality treatment.info:eu-repo/semantics/publishedVersio
Alterações oftalmológicas na gravidez
Get PDFPregnancy is needed for the perpetuation of the human species, and it leads to physiological adaptations of the various maternal organs and systems. The eye, although a closed space, also undergoes some modifications, most of which are relatively innocuous, but they may occasionally become pathological. For women, pregnancy is a susceptibility period; however, for many obstetricians, their knowledge of the ocular changes that occur during pregnancy tends to be limited. For this reason, this is a important area of study as is necessary the development of guidelines to approach those changes. Of equal importance are the knowledge of the possible therapies for ophthalmological problems in this period and the evaluation of the mode of delivery in particular conditions. For this article, an extensive review of the literature was performed, and a summary of the findings is presented.A gravidez é necessária à perpetuação da espécie humana, levando a adaptações fisiológicas dos diversos órgãos e sistemas maternos. O olho, apesar de uma cavidade fechada, sofre também algumas modificações, a maioria relativamente inócuas, que pontualmente poderão se tornar patológicas. A gravidez assume-se como um período particular de suscetibilidade para a mulher; no entanto, muitos obstetras têm conhecimento limitado sobre as alterações oftalmológicas na gravidez. Por conseguinte, impõe-se o seu estudo, bem como a elaboração de diretrizes para lidar com essas mudanças. De igual importância são o conhecimento da eventual terapêutica para problemas oftalmológicos neste período e a avaliação do tipo do parto em condições particulares. Desta forma, foi efetuada uma revisão bibliográfica extensa e apresentada uma síntese do tema.info:eu-repo/semantics/publishedVersio
Human notochordal cell transcriptome unveils potential regulators of cell function in the developing intervertebral disc
Get PDFThe adult nucleus pulposus originates from the embryonic notochord, but loss of notochordal cells with skeletal maturity in humans is thought to contribute to the onset of intervertebral disc degeneration. Thus, defining the phenotype of human embryonic/fetal notochordal cells is essential for understanding their roles and for development of novel therapies. However, a detailed transcriptomic profiling of human notochordal cells has never been achieved. In this study, the notochord-specific marker CD24 was used to specifically label and isolate (using FACS) notochordal cells from human embryonic and fetal spines (7.5-14 weeks post-conception). Microarray analysis and qPCR validation identified CD24, STMN2, RTN1, PRPH, CXCL12, IGF1, MAP1B, ISL1, CLDN1 and THBS2 as notochord-specific markers. Expression of these markers was confirmed in nucleus pulposus cells from aged and degenerate discs. Ingenuity pathway analysis revealed molecules involved in inhibition of vascularisation (WISP2, Noggin and EDN2) and inflammation (IL1-RN) to be master regulators of notochordal genes. Importantly, this study has, for the first time, defined the human notochordal cell transcriptome and suggests inhibition of inflammation and vascularisation may be key roles for notochordal cells during intervertebral disc development. The molecules and pathways identified in this study have potential for use in developing strategies to retard/prevent disc degeneration, or regenerate tissue.This research was funded by Arthritis Research UK (reference 21165 to SMR/JAH/LW) and the Henry Smith Charity (to JAH/SMR/MH). RRP was supported by a grant from the Programme for Advanced Medical Education, sponsored by Fundacão Calouste Gulbenkian, fundação Champalimaud, Ministério da Saúde, Fundação para a Ciência e Tecnologia and Apifarma, Portugal. Support was also received from the UK Medical Research Council (MR/J003352/1 to KPH), the Wellcome Trust (NAH was a senior fellow in clinical science, 088566; additional support from grant, 097820), and the British Council (14BX15NHBG to NAH). Consumable and technical support for this project (Sonal Patel) was funded by the National Institute for Health Research Manchester Musculoskeletal Biomedical Research Unit. The views expressed in this publication are those of the authors and not necessarily those of the NHS, the National Institute for Health Research, or the Department of Health. We are very grateful to all women who consented to take part in our research programme and for the assistance of research nurses and clinical colleagues at Manchester University NHS Foundation Trust. The authors would like to thank Prof Kathy Cheah and group for advice regarding the identification of sex-specific markers within microarray datasets.info:eu-repo/semantics/publishedVersio