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Espectro clínico, imagiológico e etiológico da síndrome de encefalopatia posterior reversível
Get PDFObjective Analyze the cases of posterior reversible encephalopathy syndrome (PRES) admitted in a Neurology Department during an 8-year period. Method Retrospective observational study in a central hospital in the north of Portugal. Results 14 patients were identified, mean age 52.3 years. Precipitating factors included: eclampsia, isolated arterial hypertension, spinal trauma and autonomic dysreflexia, Guillain-Barré syndrome, sepsis, sarcoidosis and pulmonary cryptococcosis and drugs. Most patients presented posterior-predominant vasogenic edema lesions, however 64.2% presented frontal lesions and in 42.8% cerebellum was involved. Four patients also had acute ischemic lesions and 1 had hemorrhagic lesions. During follow-up 10 patients recovered fully, 2 recovered partially, 1 suffered a recurrence and 2 died in hospital. Conclusion PRES has many etiological factors. The terms posterior and reversible should be revised because PRES frequently involves other brain regions and it is not always reversible. PRES patients may develop life-threatening complications and mortality is not negligible
A Case of IFAP Syndrome with Severe Atopic Dermatitis
Get PDFIntroduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis. The chromosomal study showed a karyotype 46, XY. Total IgE was 374 IU/mL. One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome. Conclusions. We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations. A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed. The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis. It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier. However, no correlation phenotype/genotype could be established
Valores de Referência da Tomografia de Coerência Óptica na Idade Pediátrica
Get PDFINTRODUCTION:
Optical coherence tomography is a technology that allows obtaining high resolution images of tissues in vivo, enabling the measurement of ocular structures, including the retinal nerve fiber layer and macular thickness. As a noninvasive test itâÄôs particularly useful in children, but its applicability is limited by the existence of normative values for adults only.
PURPOSE:
To establish the pediatric normative values of retinal nerve fiber layer thickness and macular thickness and to investigate its relationship with sex, age, refraction, eye side and ocular dominance.
MATERIAL AND METHODS:
Ophthalmologic examination and Cirrus HD-optical coherence tomography (Carl Zeiss Meditec) were carried out on 153 children aged 4 to 17 years old.
RESULTS:
We obtained a mean retinal nerve fiber layer average thickness of 97.90 μm. No significant differences were detected between genders, however the eye side and ocular dominance had significant influence on retinal nerve fiber layer thickness. Retinal nerve fiber layer thickness increased significantly with more positive refraction. With the Macular Cube 512 x 128 protocol we found that the average central subfield showed the smallest thickness (250.35 μm) and boys had higher macular thickness.
DISCUSSION:
The values of the retinal nerve fiber layer thickness and macular thickness obtained are comparable to recent studies. The distribution of retinal nerve fiber layer thickness in quadrants is in agreement with the normal distribution of retinal nerve fiber layer. Macular thickness proved to be higher in males (center field and inner ring), data consistent with previous studies.
CONCLUSION:
We establish the normative retinal nerve fiber layer thickness and macular thickness in healthy Portuguese children. These data enhance the evaluation and interpretation of parameters obtained by optical coherence tomography in the diagnosis of pediatric disorders in clinical practice
High-grade atrioventricular block in ST-segment elevation myocardial infarction patients: insights of a terciary centre
Get PDFBackground: High-grade atrioventricular block (HABV) is associated with poorer outcomes in the setting of acute coronary syndromes. Limited information is available on the incidence and death associated with HABV in STEMI patients (pts) receiving contemporary treatment.
Aim: To evaluate the incidence of HABV and its impact on outcome of STEMI patients, in primary percutaneous coronary intervention era.
Methods: We analysed retrospectively 1149 STEMI pts admitted, consecutively, in our coronary care unit, from July of 2009 to June 2014. They were divided in two groups: group 1 – pts without HABV, n=1057, 92%); group 2 – pts with HABV (n=92, 8%). For each group we compared clinical features and adverse events. Primary endpoint was the occurrence of death at 6 months; follow-up was completed in 99,8% of patients.
Results: Patients of group 2 were older (62±13 vs 69±15;p1 (18.0 % vs 42.4%;p1 (71.4% vs 37,2%;p<0.001), left ventricular dysfunction (100% vs 34.8%;p<0.001), but less right ventricular dysfunction (7.1% vs 28.4%;p<0.001). Compared with IMI pts, AMI pts had higher risk of in hospital [OR 9.04, 95% CI (2.87-28.50);p<0.001] and 6-month mortality [OR 10.88; 95% CI (3.33 – 35.53);p<0.001]. After adjusting for different baseline characteristics in multivariate analysis, HABV patients had higher risk of overall 6-month mortality compared to those without HABV [OR 2.18, 95% CI (1.25-3.79),p=0.006].
Conclusion: Besides low incidence of HABV, this complication continues to have a high risk of in-hospital and 6-month mortality and occurring with AMI the risk increases significantly
Temporal trends of risk profile among patients admitted with acute coronary syndrome
Get PDFBackground: Clinical practice focuses on the primary prevention of cardiovascular (CVD) disease through the modification and pharmacological treatment of elevated risk factors, in order to minimize long-term CVD risk.
Aim: To determine if there are differences in risk profile of patients admitted with acute coronary syndrome over time.
Methods: We analysed 4871 patients admitted consecutively in our coronary care unit with a diagnosis of ACS and included in a prospective registry, from January 2002 to October 2013. Patients were divided in 3 groups of 4 consecutive years: group 1 – from 2002 to 2005 (n=1245, 25.6%); group 2 – from 2006 to 2009 (n=1562, 32%); group 3 - from 2010 to 2013 (n=2064, 42.4%). For each group we studied the prevalence of conventional risk factors (CRF) including diabetes, hypertension, smoking and dyslipidaemia over time and compared findings according to sex and type of acute coronary syndrome:
Results: Women were less prevalent in group 3 (26.2% vs 26.9% vs 22.6%, p=0.006). Temporal trends of age and diabetes didn’t show statistic signify. Group 2 and 3 evidenced higher body mass index (26.48±4.0 vs 27.13±5.8 vs 27.15±4.67 kg/m2; p<0.001), had higher prevalence of dyslipidaemia (43.1% vs 49.2% vs 56.3%; p<0.001), smoking (39.4% vs 65.0% vs 64.4%; p<0.001) and hypertension (55.7% vs 65.0% vs 64.4%; p<0.001). We found at least 1 CRF in 92,4% of patients. The first temporal period had higher prevalence of 1 or 2 CRF, on the contrary two thirds of patients in group 3 had 2 or 3 CRF.
Over time, hypertension was more prevalent in women (69.3% vs 77,4% vs 78.6%; p=0,007), on the other hand, smoking and dyslipidaemia occurred more often in men. It was observed an increasing tendency of smoking (44% vs 41.6% vs 54%; p100 mg/dl more often (66% vs 57% vs 68.8%; p=0.022), but higher control of systolic blood pressure below 140mmHg (54.2% vs 59.6% vs 65.7%, p<0.001.
Conclusion: We found that the risk profile of patients presenting with acute coronary syndrome worsened over the years. In recent time, patients had more CRF, being smoking and hypertension the leaders
Ten-year follow-up of a giant prolactinoma
Get PDFGiant prolactinomas are rare pituitary tumours of which management can be a challenge. A 28-year-old man presented with headaches, visual impairment and behavioural changes. Clinically, the patient was found to have hypogonadism and bitemporal hemianopsia. A MRI demonstrated a pituitary tumour 76 mm in diameter and blood tests revealed a serum prolactin of 158 700 µU/mL (reference range 58-254). Initially, a craniotomy was performed. Immunohistochemistry of the tumour identified a prolactinoma with a high proliferative index and the patient was started on treatment with a dopamine agonist. A year later, neurological symptoms worsened due to regrowth of the lesion's cystic component, and so further surgery was performed. After 10 years of treatment with dopamine agonists, the prolactin levels decreased by 96.8%, there was an effective reduction in tumour size, and the neurological signs and symptoms resolved
