1194 research outputs found
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High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Full text linkCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH. The aim of this study was to identify CHD7 mutations in patients with CHH. Fifty Portuguese patients with CHH were screened for mutations in the CHD7 gene by DNA sequencing. Eight (16%) patients had CHD7 rare sequence variants that consisted of six missense (p.Gly388Glu, p.His903Pro, p.Thr1082Ile, p.Val1452Leu, p.Asp1854Gly, and p.Arg2065His) and two synonymous (p.Ser559Ser, and p.Ala2785Ala) mutations. Five of these mutations have never been reported before. Three CHD7 mutations occurred in patients that had mutations in additional CHH-genes. This study uncovered novel genetic variants that expand the known spectrum of mutations associated with CHH. The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features.info:eu-repo/semantics/publishedVersio
Endoscopic Submucosal Dissection for the Treatment of Superficial Epithelial Gastric Neoplasia in a Portuguese Centre
Full text linkBACKGROUND:
The emergence of endoscopic submucosal dissection (ESD) made possible en bloc resection of neoplastic gastric lesions, regardless of lesion size, with reduced rates of complications and recurrence. This technique has become the preferred method for curative resection, instead of conventional endoscopic mucosal resection and surgery, when distant metastases have negligible risk. In Western countries experience with this technique has evolved quickly, with an increasing number of case series reported in the literature. This study aims to report the short- and long-term outcomes of ESD in gastric epithelial neoplastic lesions by a single operator in a Portuguese centre.
METHODS:
A retrospective analysis of all gastric ESDs in a tertiary specialised unit during a 5-year period, between May 2012 and September 2017, was performed.
RESULTS:
A total of 114 ESDs of gastric epithelial lesions were performed during this period; 96.5% of them were removed en bloc and 87.6% with R0 resection. A curative treatment was achieved in 83.2% of the cases. Complications occurred in 13.2% of the procedures, including early and delayed bleeding in 12 patients (10.5%) and one perforation (0.9%). With a median follow-up period of 12 months (interquartile range [IQR] = 18), 6 cases of recurrence at the previous ESD site were diagnosed: 4 residual lesions and 2 local recurrences in previous R0 resections. Residual lesions occurred more often in patients with larger lesions (median = 40.0 mm, IQR = 26 vs. median = 20.0 mm, IQR = 15, p = 0.008) and with positive horizontal margins (HMs) after resection (50.0 vs. 0.0%, Fisher exact test, p < 0.001). The cumulative incidence of metachronous gastric lesions at 34 months was 16.1%. All new lesions were effectively treated using an endoscopic technique. The disease-specific survival at 12 months was 100%.
CONCLUSION:
This study showed that ESD is an effective resection technique for gastric lesions with a good safety profile, confirming other European series. Regardless, high en bloc resection positive HM is still a problem in some specimens resected by ESD. Endoscopic surveillance can detect local recurrence and new lesions during early stages, potentially treatable by endoscopy.info:eu-repo/semantics/publishedVersio
Characterization of a large cluster of HIV-1 A1 infections detected in Portugal and connected to several Western European countries
Full text linkHIV-1 subtypes associate with differences in transmission and disease progression. Thus, the existence of geographic hotspots of subtype diversity deepens the complexity of HIV-1/AIDS control. The already high subtype diversity in Portugal seems to be increasing due to infections with sub-subtype A1 virus. We performed phylogenetic analysis of 65 A1 sequences newly obtained from 14 Portuguese hospitals and 425 closely related database sequences. 80% of the A1 Portuguese isolates gathered in a main phylogenetic clade (MA1). Six transmission clusters were identified in MA1, encompassing isolates from Portugal, Spain, France, and United Kingdom. The most common transmission route identified was men who have sex with men. The origin of the MA1 was linked to Greece, with the first introduction to Portugal dating back to 1996 (95% HPD: 1993.6-1999.2). Individuals infected with MA1 virus revealed lower viral loads and higher CD4+ T-cell counts in comparison with those infected by subtype B. The expanding A1 clusters in Portugal are connected to other European countries and share a recent common ancestor with the Greek A1 outbreak. The recent expansion of this HIV-1 subtype might be related to a slower disease progression leading to a population level delay in its diagnostic.info:eu-repo/semantics/publishedVersio
Easy resolution of severe obstructive kidney injury
Full text linkChronic constipation is a common diagnosis with a high prevalence in the elderly. Constipation affects the quality of life of sick individuals, bringing several clinical complications.info:eu-repo/semantics/publishedVersio
International consensus on natural orifice specimen extraction surgery (NOSES) for colorectal cancer
Full text linkIn recent years, natural orifice specimen extraction surgery (NOSES) in the treatment of colorectal cancer has attracted widespread attention. The potential benefits of NOSES including reduction in postoperative pain and wound complications, less use of postoperative analgesic, faster recovery of bowel function, shorter length of hospital stay, better cosmetic and psychological effect have been described in colorectal surgery. Despite significant decrease in surgical trauma of NOSES have been observed, the potential pitfalls of this technique have been demonstrated. Particularly, several issues including bacteriological concerns, oncological outcomes and patient selection are raised with this new technique. Therefore, it is urgent and necessary to reach a consensus as an industry guideline to standardize the implementation of NOSES in colorectal surgery. After three rounds of discussion by all members of the International Alliance of NOSES, the consensus is finally completed, which is also of great significance to the long-term progress of NOSES worldwide.info:eu-repo/semantics/publishedVersio
Quality of life in elderly Portuguese war veterans with post-traumatic stress symptoms
Full text linkBACKGROUND:
Studies show that post-traumatic stress symptoms among Portuguese veterans who participated in Colonial War (1961-75) are high, even though 43 years have gone by since the end of the war.
AIMS:
This study analyzed the role of family type, personality traits, and social support as predictors of post-traumatic stress symptoms and quality of life in war veterans, and whether satisfaction with social support was a mediator between neuroticism/post-traumatic stress symptoms and quality of life.
METHOD:
A cross-sectional study was conducted including 230 war veterans with a mean age of 60 years (SD=3.82).
RESULTS:
Results indicated a high prevalence of post-traumatic stress symptoms as well as high neuroticism, 16.5 (SD=4.41); 81% of veterans presented high psychological distress, suggesting emotional disturbance and 71% belonged to extreme families (families with cohesion and adaptability problems). Results showed that age (β=-0.166, p<0.05), social support (β=-0.184, p<0.01), and neuroticism (β=0.325, p<0.001) predicted post-traumatic stress symptoms. Age, professional status, social support, post-traumatic stress symptoms, family type, neuroticism, and extroversion predicted different dimensions of quality of life. Finally, a path analysis showed that satisfaction with social support was a mediator in the relationship between neuroticism and quality of life (β=-0.066; p<0.01) and between post-traumatic stress symptoms and quality of life (β=-0.108; p<0.01).
CONCLUSION:
Four decades after the Colonial War have passed, there is still a high prevalence of post-traumatic stress symptoms. Screening elderly veterans who present post-traumatic stress symptoms, for the presence of neuroticism traits, and assessing family type and social support, should be a standard practice in health care services, especially in the oldest and those who are retired. Social support should be promoted in order to enhance quality of life in this population.info:eu-repo/semantics/publishedVersio
Brain functional connectivity is altered in patients with Takotsubo Syndrome
Full text linkTakotsubo syndrome (TTS) is an acute, reversible cardiomyopathy. The central autonomic nervous system (ANS) is believed to play a role in this disease. The aim of the present study was to investigate the patterns of brain functional connectivity in a sample of patients who had experienced a previous episode of TTS. Brain functional connectivity, both at rest and in response to the stressful stimulus of topical cold stimulation, was explored using functional magnetic resonance imaging (fMRI), network-based statistics (NBS) and graph theory analysis (GTA) in a population consisting of eight patients with a previous episode of TTS and eight sex- and age-matched controls. At rest, a network characterized by increased connectivity in the TTS group compared to controls and comprising elements of the central ANS was identified. GTA revealed increased local efficiency, clustering and strength in regions of the bilateral hippocampus in subjects with a previous episode of TTS. When stressed by local exposure to cold, the TTS group differed significantly from both a pre-stress baseline interval and from the control group, showing increased connectivity in a network that included the left amygdala and the right insula. Based on the results, patients with TTS display a reorganization of cortical and subcortical networks, including areas associated with the emotional response and autonomic regulation. The findings tend to support the hypothesis that a deregulation of autonomic control at the central level plays a significant role in this syndrome.info:eu-repo/semantics/publishedVersio
Eosinophilic fasciitis: an atypical presentation of a rare disease
Full text linkEosinophilic fasciitis, or Shulman's disease, is a rare disease of unknown etiology. It is characterized by peripheral eosinophilia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. The diagnosis is confirmed by a deep biopsy of the skin. The first line of treatment is corticotherapy. We present a rare case of eosinophilic fasciitis in a 27-year-old woman with an atypical presentation with symmetrical peripheral edema and a Groove sign. The patient responded well to treatment with corticosteroids at high doses and, in this context, was associated with hydroxychloroquine and azathioprine. After two and a half years, peripheral eosinophilia had increased, and more of her skin had hardened. At that time, the therapy was modified to include corticoids, methotrexate, and penicillamine. It is of great importance to publicize these cases that allow us to gather experience and better treat our patients.info:eu-repo/semantics/publishedVersio
The correlation between serum vascular endothelial growth factor (VEGF) and tumor VEGF receptor 3 in colorectal cancer
Full text linkPURPOSE:
Despite plasma biomarkers offering a number of advantages over tissue-based markers, the relationship between serum vascular endothelial growth factor (VEGF) and VEGF receptor (VEGF-R) tumor expression in colorectal cancer (CRC) is still unclear. This study was designed to establish the relationship between the concentration of serum VEGF and tumor VEGF-R expression in patients with CRC.
METHODS:
A prospective study of consecutive patients undergoing elective colorectal surgery during 1 year. Preoperative VEGF was determined by enzyme-linked immunosorbent assay and VEGF-R3 by immunochemistry.
RESULTS:
The initial sample included 134 patients with CRC diagnosis. Results showed significant association of serum values of VEGF with VEGF-R3 expression (P < 0.001), even in the presence of confounders (sex, age, body mass index, tumor location, and surgical approach). The estimated effect size was high (η2 = 0.35).
CONCLUSION:
Serum VEGF has a significant correlation with tumoral VEGF-R3 expression in CRC.info:eu-repo/semantics/publishedVersio
Magnetic resonance imaging of cerebellar cysts in a neonate with congenital cytomegalovirus infection
Full text linkCongenital cytomegalovirus infection is one of the most common congenital viral infections in the world. Brain magnetic resonance imaging plays a key role in evaluating brain involvement and establishing prognosis; several characteristic features have been described. We present a description of cerebellar cysts in a neonate with polymerase chain reaction-confirmed cytomegalovirus congenital infection, and discuss the differential diagnosis and potential pathophysiological mechanisms.info:eu-repo/semantics/publishedVersio