Hospital de Santa Maria
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Changes in the thickness and stiffness of palmo-plantar soft tissues in people with systemic sclerosis quantification
No full textDoes minimally invasive also stand for minimal patient risk? Lessons from an upper gastrointestinal endoscopy
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Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras
Get PDFPrimary familial and congenital polycythaemia (PFCP) is a disease characterized by increased red blood cell mass, and can be associated with mutations in the intracellular region of the erythropoietin (EPO) receptor (EPOR). Here we explore the mechanisms by which EPOR mutations induce PFCP, using an experimental system based on chimeric receptors between epidermal growth factor receptor (EGFR) and EPOR. The design of the chimeras enabled EPOR signalling to be triggered by EGF binding. Using this system we analysed three novel EPOR mutations discovered in PFCP patients: a deletion mutation (Del1377-1411), a nonsense mutation (C1370A) and a missense mutation (G1445A). Three different chimeras, bearing these mutations in the cytosolic, EPOR region were generated; Hence, the differences in the chimera-related effects are specifically attributed to the mutations. The results show that the different mutations affect various aspects related to the signalling and metabolism of the chimeric receptors. These include slower degradation rate, higher levels of glycan-mature chimeric receptors, increased sensitivity to low levels of EGF (replacing EPO in this system) and extended signalling cascades. This study provides a novel experimental system to study polycythaemia-inducing mutations in the EPOR, and sheds new light on underlying mechanisms of EPOR over-activation in PFCP patients
Progression of myopic maculopathy after treatment of choroidal neovascularization
Get PDFPurpose: To evaluate the long-term progression of myopic maculopathy and functional outcome after treatment of myopic choroidal neovascularization (CNV) with photodynamic therapy (PDT) and/or intravitreal ranibizumab (IVR). Methods: Retrospective study with a cross-sectional evaluation. Eyes were assigned to 4 groups (PDT, IVR, PDT + IVR, dry myopic maculopathy) and evaluated with best-corrected visual acuity, color fundus photography and spectral-domain optical coherence tomography. Chorioretinal atrophy progression was quantified. Results: Fifty-four eyes were included with a mean follow-up of 80.6 ± 28.0 months. The prevalence of diffuse, patchy and macular atrophy increased during the follow-up, in contrast with tessellated fundus, lacquer cracks and active CNV. Progression of macular atrophy was significant in the 3 treatment groups (p < 0.05) and predictive of visual acuity. It depended on age, degree of myopia and presence of staphyloma, but not on the type of treatment. Conclusions: The long-term functional outcome of eyes with myopic CNV is more dependent on the progression of macular atrophy, and not on the type of treatment
Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings.
Get PDFBACKGROUND:
Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.
METHODS:
Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions.
RESULTS:
The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile.
CONCLUSION:
The aims of this work are to perform a systematic review of Erdheim-Chester disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement-the pericardium, right atrium and auriculoventricular sulcus-worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this disease
Endometriosis-induced intussusception of the caecal appendix
No full textAppendicular intussusception is an uncommon entity, with a reported incidence of 0.01%. The diagnosis is difficult and often only performed at the time of surgery. Intussusception has multiple causes including tumours, foreign bodies and polyps. The definitive treatment is surgical, and the extent of resection is determined by the underlying pathology and degree of invagination. Endometriosis is a rare cause of appendicular intussusception, with 194 cases described in the English literature. We report a case of a 42-year-old woman who presented with chronic abdominal pain in the lower right quadrant. A mass at the caecum was identified during investigations for renal stones by CT. Colonoscopy showed a polypoid lesion, with presumed origin in the appendix. Ileocaecal resection was performed because an appendicular tumour was suspected. Pathological examination identified endometriosis of the appendix and associated peritoneum with invagination of the caecum. The patient was discharged 7 days after surgery and is currently asymptomatic
MÓDULO 3 - 2º Curso de Formação para Internos 2013 - 2014: Neonatologia e Cuidados Intensivos Pediátricos
No full textHorizontal Resorption of Fresh-Frozen Corticocancellous Bone Blocks in the Reconstruction of the Atrophic Maxilla at 5 Months
No full textBACKGROUND:
Reliable implant-supported rehabilitation of an alveolar ridge needs sufficient volume of bone. In order to achieve a prosthetic-driven positioning, bone graft techniques may be required.
PURPOSE:
This prospective cohort study aims to clinically evaluate the amount of resorption of corticocancellous fresh-frozen allografts bone blocks used in the reconstruction of the severe atrophic maxilla.
MATERIALS AND METHODS:
Twenty-two partial and totally edentulous patients underwent bone augmentation procedures with fresh-frozen allogenous blocks from the iliac crest under local anesthesia. Implants were inserted into the grafted sites after a healing period of 5 months. Final fixed prosthesis was delivered ± 4 months later. Ridge width analysis and measurements were performed with a caliper before and after grafting and at implant insertion. Bone biopsies were performed in 16 patients.
RESULTS:
A total of 98 onlay block allografts were used in 22 patients with an initial mean alveolar ridge width of 3.41 ± 1.36 mm. Early exposure of blocks was observed in four situations and one of these completely resorbed. Mean horizontal bone gain was 3.63 ± 1.28 mm (p < .01). Mean buccal bone resorption between allograph placement and the reopening stage was 0.49 ± 0.54 mm, meaning approximately 7.1% (95% confidence interval: [5.6%, 8.6%]) of total ridge width loss during the integration period. One hundred thirty dental implants were placed with good primary stability (≥ 30 Ncm). Four implants presented early failure before the prosthetic delivery (96.7% implant survival). All patients were successfully rehabilitated. Histomorphometric analysis revealed 20.9 ± 5.8% of vital bone in close contact to the remaining grafted bone. A positive strong correlation (adjusted R2 = 0.44, p = .003) was found between healing time and vital bone percentage.
CONCLUSIONS:
Augmentation procedures performed using fresh-frozen allografts from the iliac crest are a suitable alternative in the reconstruction of the atrophic maxilla with low resorption rate at 5 months, allowing proper stability of dental implants followed by fixed prosthetic rehabilitation
Cardiovascular magnetic resonance imaging assessment of diastolic dysfunction in a population without heart disease: a gender-based study
No full textOBJECTIVES:
Asymptomatic left ventricular (LV) diastolic dysfunction is increasingly recognised as an important diagnosis. Our goal was to study the prevalence and gender differences in subclinical LV diastolic dysfunction, using cardiovascular magnetic resonance imaging (CMR) at 3 T.
METHODS:
We prospectively studied 48 volunteers (19 male and 29 female, mean age 49 ± 7 years) with no evidence of cardiovascular disease. We used CMR to measure left atrium (LA) and LV volumes, LV peak filling rate and transmitral flow.
RESULTS:
The overall prevalence of LV diastolic dysfunction in our cohort varied between 20 % (based on evaluation of LV filing profiles) and 24 % (based on the evaluation of the transmitral flow). The prevalence of diastolic dysfunction was higher in men than in women, independently of the criteria used (P between 0.004 and 0.022). Indexed LV end-diastolic volume, indexed LV stroke volume, indexed LV mass, indexed LA minimum volume and indexed LA maximum volume were significantly greater in men than in women (P < 0.05). All the subjects had LV ejection fractions within the normal range.
CONCLUSIONS:
It is clinically feasible to study diastolic flow and LV filling with CMR. CMR detected diastolic dysfunction in asymptomatic men and women.
KEY POINTS:
• CMR imaging offers new possibilities in assessing left ventricular diastolic function. • The prevalence of diastolic dysfunction is higher in men than in women. • The prevalence of some diastolic dysfunction in a normal population is 24 %