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Consensus Recommendations of the Multiple Sclerosis Study Group and Portuguese Neuroradiological Society for the Use of the Magnetic Resonance Imaging in Multiple Sclerosis in Clinical Practice: Part 1
Full text linkINTRODUCTION:
Magnetic resonance imaging is established as a recognizable tool in the diagnosis and monitoring of multiple sclerosis patients. In the present, among multiple sclerosis centers, there are different magnetic resonance imaging sequences and protocols used to study multiple sclerosis that may hamper the optimal use of magnetic resonance imaging in multiple sclerosis. In this context, the Group of Studies of Multiple Sclerosis and the Portuguese Society of Neuroradiology, after a joint discussion, appointed a committee of experts to create recommendations adapted to the national reality on the use of magnetic resonance imaging in multiple sclerosis. The purpose of this document is to publish the first Portuguese consensus recommendations on the use of magnetic resonance imaging in multiple sclerosis in clinical practice.
MATERIAL AND METHODS:
The Group of Studies of Multiple Sclerosis and the Portuguese Society of Neuroradiology, after discussion of the topic in national meetings and after a working group meeting held in Figueira da Foz on May 2017, have appointed a committee of experts that have developed by consensus several standard protocols on the use of magnetic resonance imaging in the diagnosis and follow-up of multiple sclerosis. The document obtained was based on the best scientific evidence and expert opinion. Subsequently, the majority of Portuguese multiple sclerosis consultants and departments of neuroradiology scrutinized and reviewed the consensus paper; comments and suggestions were considered. Technical magnetic resonance imaging protocols regarding diagnostic, monitoring and the recommended information to be included in the magnetic resonance imaging report will be published in a separate paper.
RESULTS:
We provide some practical guidelines to promote standardized strategies to be applied in the clinical practice setting of Portuguese healthcare professionals regarding the use of magnetic resonance imaging in multiple sclerosis.
CONCLUSION:
We hope that these first Portuguese magnetic resonance imaging guidelines, based in the best available clinical evidence and practices, will serve to optimize multiple sclerosis management and improve multiple sclerosis patient care across Portugal.info:eu-repo/semantics/publishedVersio
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
Full text linkINTRODUCTION:
Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype.
MATERIALS AND METHODS:
DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.
RESULTS:
We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del).
CONCLUSION:
Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously.info:eu-repo/semantics/publishedVersio
Laparoscopic colorectal resection for a giant colonic diverticulum - video vignette
Full text linkA giant colonic diverticulum (GCD) is a rare disease with less than 200 cases reported in the literature. By definition, a GCD is larger than 4cm in diameter with close sigmoid colon relationship in more than 90% of the cases. En bloc resection of the diverticulum with anterior sigmoid-rectal segment with primary anastomosis is the best treatment approach. The authors present a case of laparoscopic colorectal resection with partial cystectomy for a giant colonic diverticulum. A 62-years-old man with sigmoid colon diverticulosis and several episodes of diverticulitis presented at the office with a painless hypogastric/left iliac abdominal mass. CT scan showed a round 11 cm smooth walled structure filled with gas, adjacent to the sigmoid anti-mesenteric border and the urinary bladder. Four trocars were used for the laparoscopic approach. Step-by-step as follows: i. complete mobilization of colon splenic flexure. ii. Giant diverticulum dissection with partial bladder resection. iii. Bladder closure. iv. Sigmoid colon and intra-peritoneal rectum resection with primary anastomosis. The post-operative course was uneventful and the patient was discharged home on post-operative day 4. Vesical catheter was removed on post-operative day 10. Pathological specimen analysis confirmed the pre-operative diagnosis of a GCD. There is a consensus that this extremely rare diverticular disease complication should be approached with prompt standard resection due to high risk of diverticulum rupture. Laparoscopic approach seems to be feasible and safe despite of dissection higher complexity owing to the mega diverticulum. This article is protected by copyright. All rights reserved.info:eu-repo/semantics/publishedVersio
Cervical Ganglioneuroma in Pediatric Age: A Case Report
Full text linkGanglioneuroma is a rare, benign, non-invasive tumor emerging from the sympathetic system. Of these tumors, only 8% occur in the neck. In this report, we present a case of a 13-year-old girl with a 2-year history of enlarging neck mass. Her only complaint, aside from neck swelling, was dysphagia. Physical and radiological examinations revealed a large mass centered in the right carotid space. A transcervical approach was used to excise the tumor emerging from the sympathetic ganglia. The patient developed temporary Horner's syndrome postoperatively. In a few weeks, she was completely asymptomatic. Histological examination was compatible with ganglioneuroma. Surgical excision is the only definite treatment of cervical ganglioneuroma and is also the only way to confirm the diagnosis. Injury during surgery may result in significant morbidity.info:eu-repo/semantics/publishedVersio
Drugs Involved in Dyslipidemia and Obesity Treatment: Focus on Adipose Tissue
Full text linkMetabolic syndrome can be defined as a state of disturbed metabolic homeostasis characterized by visceral obesity, atherogenic dyslipidemia, arterial hypertension, and insulin resistance. The growing prevalence of metabolic syndrome will certainly contribute to the burden of cardiovascular disease. Obesity and dyslipidemia are main features of metabolic syndrome, and both can present with adipose tissue dysfunction, involved in the pathogenic mechanisms underlying this syndrome. We revised the effects, and underlying mechanisms, of the current approved drugs for dyslipidemia and obesity (fibrates, statins, niacin, resins, ezetimibe, and orlistat; sibutramine; and diethylpropion, phentermine/topiramate, bupropion and naltrexone, and liraglutide) on adipose tissue. Specifically, we explored how these drugs can modulate the complex pathways involved in metabolism, inflammation, atherogenesis, insulin sensitivity, and adipogenesis. The clinical outcomes of adipose tissue modulation by these drugs, as well as differences of major importance for clinical practice between drugs of the same class, were identified. Whether solutions to these issues will be found in further adjustments and combinations between drugs already in use or necessarily in new advances in pharmacology is not known. To better understand the effect of drugs used in dyslipidemia and obesity on adipose tissue not only is challenging for physicians but could also be the next step to tackle cardiovascular disease.info:eu-repo/semantics/publishedVersio
Pulmonary aspergillomas management: A 26-years case series of surgical therapy
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Prospective Observational Study on acute Appendicitis Worldwide (POSAW)
Full text linkBACKGROUND:
Acute appendicitis (AA) is the most common surgical disease, and appendectomy is the treatment of choice in the majority of cases. A correct diagnosis is key for decreasing the negative appendectomy rate. The management can become difficult in case of complicated appendicitis. The aim of this study is to describe the worldwide clinical and diagnostic work-up and management of AA in surgical departments.
METHODS:
This prospective multicenter observational study was performed in 116 worldwide surgical departments from 44 countries over a 6-month period (April 1, 2016-September 30, 2016). All consecutive patients admitted to surgical departments with a clinical diagnosis of AA were included in the study.
RESULTS:
A total of 4282 patients were enrolled in the POSAW study, 1928 (45%) women and 2354 (55%) men, with a median age of 29 years. Nine hundred and seven (21.2%) patients underwent an abdominal CT scan, 1856 (43.3%) patients an US, and 285 (6.7%) patients both CT scan and US. A total of 4097 (95.7%) patients underwent surgery; 1809 (42.2%) underwent open appendectomy and 2215 (51.7%) had laparoscopic appendectomy. One hundred eighty-five (4.3%) patients were managed conservatively. Major complications occurred in 199 patients (4.6%). The overall mortality rate was 0.28%.
CONCLUSIONS:
The results of the present study confirm the clinical value of imaging techniques and prognostic scores. Appendectomy remains the most effective treatment of acute appendicitis. Mortality rate is low.info:eu-repo/semantics/publishedVersio
Iron Deficiency and Obesity - Are we Diagnosing with Appropriate Indicators?
Full text linkINTRODUCTION:
We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome.
MATERIAL AND METHODS:
Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL.
EXCLUSION CRITERIA:
prior bariatric surgery; lack of ferritin or hemoglobin determinations.
RESULTS:
We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency.
DISCUSSION:
The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity.
CONCLUSION:
Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.info:eu-repo/semantics/publishedVersio
WNT6 is a novel oncogenic prognostic biomarker in human glioblastoma
Full text linkGlioblastoma (GBM) is a universally fatal brain cancer, for which novel therapies targeting specific underlying oncogenic events are urgently needed. While the WNT pathway has been shown to be frequently activated in GBM, constituting a potential therapeutic target, the relevance of WNT6, an activator of this pathway, remains unknown. Methods: WNT6 protein and mRNA levels were evaluated in GBM. WNT6 levels were silenced or overexpressed in GBM cells to assess functional effects in vitro and in vivo. Phospho-kinase arrays and TCF/LEF reporter assays were used to identify WNT6-signaling pathways, and significant associations with stem cell features and cancer-related pathways were validated in patients. Survival analyses were performed with Cox regression and Log-rank tests. Meta-analyses were used to calculate the estimated pooled effect. Results: We show that WNT6 is significantly overexpressed in GBMs, as compared to lower-grade gliomas and normal brain, at mRNA and protein levels. Functionally, WNT6 increases typical oncogenic activities in GBM cells, including viability, proliferation, glioma stem cell capacity, invasion, migration, and resistance to temozolomide chemotherapy. Concordantly, in in vivo orthotopic GBM mice models, using both overexpressing and silencing models, WNT6 expression was associated with shorter overall survival, and increased features of tumor aggressiveness. Mechanistically, WNT6 contributes to activate typical oncogenic pathways, including Src and STAT, which intertwined with the WNT pathway may be critical effectors of WNT6-associated aggressiveness in GBM. Clinically, we establish WNT6 as an independent prognostic biomarker of shorter survival in GBM patients from several independent cohorts. Conclusion: Our findings establish WNT6 as a novel oncogene in GBM, opening opportunities to develop more rational therapies to treat this highly aggressive tumor.info:eu-repo/semantics/publishedVersio