Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Objective: To describe electroclinical features and outcome of 6 patients harboring mutations.

Methods: Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.

Mechanisms of endothelial cell dysfunction in cystic fibrosis.

Although cystic fibrosis (CF) patients exhibit signs of endothelial perturbation, the functions of the cystic fibrosis conductance regulator (CFTR) in vascular endothelial cells (EC) are poorly defined. We sought to uncover biological activities of endothelial CFTR, relevant for vascular homeostasis and inflammation. We examined cells from human umbilical cords (HUVEC) and pulmonary artery isolated from non-cystic fibrosis (PAEC) and CF human lungs (CF-PAEC), under static conditions or physiological shear.

3-MeO-PCP intoxication in two young men: First in vivo detection in Italy.

3-MeO-PCP or 3-methoxyphencyclidine is a derivative of phencyclidine. It acts as a dissociative anesthetic and it has allegedly hallucinogenic and sedative effects. There are almost no documented intoxication cases and references about its pharmacology and toxicity in literature.

Use of noninvasive and invasive mechanical ventilation in cardiogenic shock: A prospective multicenter study.

Background: Despite scarce data, invasive mechanical ventilation (MV) is widely recommended over non-invasive ventilation (NIV) for ventilatory support in cardiogenic shock (CS). We assessed the real-life use of different ventilation strategies in CS and their influence on outcome focusing on the use of NIV and MV.

Methods: 219 CS patients were categorized by the maximum intensity of ventilatory support they needed during the first 24h into MV (n=137; 63%) , NIV (n=26; 12%), and supplementary oxygen (n=56; 26%) groups.

Puncture Versus Surgical Cutdown Complications of Transfemoral Aortic Valve Implantation (from the Spanish TAVI Registry).

Vascular complications in transcatheter aortic valve implantation using transfemoral approach are related to higher mortality. Complete percutaneous approach is currently the preferred technique for vascular access. However, some centers still perform surgical cutdown.

Risk Factors for Spontaneously Self-Reported Postprandial Hypoglycemia After Bariatric Surgery.

Context: Postprandial hypoglycemia (PPHG) is a recognized complication of Roux-en-Y gastric bypass (RYGB) surgery. Data on PPHG after laparoscopic sleeve gastrectomy (LSG) are scant.

Objective: The objective of the study was to identify preoperative predictors of PPHG in subjects spontaneously self-reporting PPHG after RYGB or LSG.

An international observational study suggests that artificial intelligence for clinical decision support optimizes anemia management in hemodialysis patients.

Managing anemia in hemodialysis patients can be challenging because of competing therapeutic targets and individual variability. Because therapy recommendations provided by a decision support system can benefit both patients and doctors, we evaluated the impact of an artificial intelligence decision support system, the Anemia Control Model (ACM), on anemia outcomes. Based on patient profiles, the ACM was built to recommend suitable erythropoietic-stimulating agent doses.

Immunohistochemical expression of ornithine decarboxylase, diamine oxidase, putrescine, and spermine in normal canine enterocolic mucosa, in chronic colitis, and in colorectal cancer.

We compared the immunohistochemical expression of putrescine (PUT), spermine (SPM), ornithine decarboxylase (ODC), and diamine oxidase (DAO) in bioptic samples of canine colonic mucosa with chronic inflammation (i.e., granulomatous colitis and lymphoplasmacytic colitis) or neoplasia.

Symptomatic internal carotid artery thrombosis in acute carbon monoxide intoxication.

Stroke has been rarely associated with carbon monoxide (CO) intoxication. We report a symptomatic internal carotid artery (ICA) thrombosis in a patient with acute CO intoxication.

Prognosis of patients with unstable angina and low-risk exercise test: significance of ST-segment depression on the admission ECG.

The presence of ST-segment depression on the admission electrocardiogram (ECG) is an important predictor of poor outcome in patients with unstable angina. On the other hand, patients with unstable angina who undergo a low-risk exercise test are supposed to have a favorable prognosis. The objective of the study was to determine the prognostic significance of ST-segment depression on the admission ECG in patients with unstable angina who undergo an exercise test that indicates a low risk of events.

Evaluation of renal graft haemodynamia by 51Cr-EDTA and o-[131I]iodohippurate: its use in the early diagnosis of glomerular hyperfiltration.

Chronic rejection is the most important cause of renal graft dysfunction. Non-immunological mechanisms have been suggested as a probable origin of chronic graft rejection, provoking a decrease in renal mass function, followed by glomerular hyperfiltration in the remnant nephrons, which could cause progressive glomerulosclerosis and functional loss. Early, or preclinical, identification of patients with glomerular hyperfiltration, defined as an increase in glomerular filtration fraction (GFF) and in glomerular capillary pressure (GCP), could prolong graft life.

Cerebral perfusion and haemodynamics measured by SPET in symptom-free patients with transient ischaemic attack: clinical implications.

Transient ischaemic attacks (TIAs) are heterogeneous from the clinical, physiopathological, aetiological and prognostic points of view. Single-photon emission tomography (SPET) may influence patient management by helping to define the vascular topography and by suggesting the probable mechanism (embolic or haemodynamic). However, the variables predicting focal regional cerebral blood flow (rCBF) and cerebrovascular reserve (CVR) abnormalities on SPET and their clinical correlation are poorly known.

Concordance between rest MIBG and exercise tetrofosmin defects: possible use of rest MIBG imaging as a marker of reversible ischaemia.

Perfusion imaging combined with pharmacological stress is the study of choice in patients with ischaemic heart disease who are incapable of exercising. Some medical conditions, however, can preclude the use of pharmacological stress. In these particular situations, availability of a diagnostic test which allows for the assessment of ischaemic territory at rest would be desirable.

[67 Ga-citrate scintigraphy as a determiner in the diagnosis of a subacute thyroiditis].

We present the case of a 41-year-old man admitted to the hospital with fever and toxic syndrome possibly having an oncological or infectious origin. A whole body scan with 67Ga-citrate showed an intense and diffuse radiotracer accumulation in the thyroid gland. The patient was re-evaluated and studied with other diagnostic tests including a thyroid 99mTc-pertechnetate scintigraphy and a thyroidal radioiodine uptake.

Myocardial sympathetic innervation in the athlete's sinus bradycardia: is there selective inferior myocardial wall denervation?

Background: Sinus bradycardia in trained athletes is predominantly a manifestation of increased vagal tone, but it is not known whether an alteration in the cardiac sympathetic system can contribute to blunted chronotropic response. This study assessed the integrity of the sympathetic system in trained athletes with sinus bradycardia by means of the iodine-123-metaiodobenzylguanidine (123I-MIBG) procedure.

Methods And Results: Fourteen athletes with sinus bradycardia and 8 athletes with a normal heart rate were explored by means of planar and single photon emission computed tomography MIBG studies.

[Epidemiology of sporotrichosis in the central region of Rio Grande do Sul].

Thirty-one cases of sporotrichosis diagnosed in the central region of Rio Grande do Sul from 1988 to 1997 were studied. Clinical data were compared with a study concerning three past decades, clearly showing a decrease in the incidence of the mycosis, and an alteration in the profile of the infection, with a decrease of sporotrichosis in rural patients, children, women and farmers. In the past decade the mycosis was most frequent among urban adults with different professions, with the onset of the disease being associated with rural leisure activities such as fishing and hunting.

Influence of exercise rehabilitation on myocardial perfusion and sympathetic heart innervation in ischaemic heart disease.

Exercise rehabilitation improves the clinical status in ischaemic heart disease. The purpose of this study was to assess the influence of exercise rehabilitation on myocardial perfusion and sympathetic heart innervation. Sixteen patients with ischaemic heart disease and previous myocardial infarction were investigated by means of exercise/rest tetrofosmin and metaiodobenzylguanidine (MIBG) exercise/rest single-photon emission tomography (SPET) studies, before and 6 months after starting an exercise rehabilitation programme.

A ten-year survey of onychomycosis in the central region of the rio grande do sul, brazil.

Onychomycosis is a common infection of the nail plate caused by fungal microrganisms, and represents approximately 50% of nails disorders and 30% of all superficial mycotic infections. We present a study of the frequency, epidemiology and clinical aspects of onychomycosis in the central region of Rio Grande do Sul during the period 1988-1997.

Sympathetic reinnervation of cardiac allografts evaluated by 123I-MIBG imaging.

Unlabelled: Some heart-transplant patients present with improved heart rate response to exercise and anginal pain suggesting reinnervation of allografts. Studies performed up to 5 y post-transplantation have suggested that reinnervation is a slow process that occurs only after 1 y post-transplantation. The purpose of this study was to evaluate the extent of sympathetic reinnervation in heart-transplant patients and its relation to cardiac function.

A ten-year survey of Tinea pedis in the central region of the Rio Grande do Sul, Brazil.

Tinea pedis in the most common type of dermatophytosis, but can mimic many cutaneous diseases and tend to be chronic. We present a study of the frequency, epidemiology and clinical aspects of tinea pedis in the central region of Rio Grande do Sul during the period 1988-1997.

Use of somatostatin analogue scintigraphy in the localization of recurrent medullary thyroid carcinoma.

Detection of recurrence of medullary thyroid carcinoma (MTC) remains a diagnostic problem. Increased serum tumour marker levels frequently indicate recurrence while conventional imaging techniques (CIT) are non-diagnostic. In this study, we performed indium-111 octreotide scintigraphy and CIT in a series of 20 patients with MTC presenting with elevated serum tumour markers after surgery.

Nitrate administration to enhance the detection of myocardial viability by technetium-99m tetrofosmin single-photon emission tomography.

A comparison was performed between technetium-99m tetrofosmin myocardial perfusion tomography at baseline and after nitrate administration, using a 2-day protocol, and rest-reinjection thallium-201 single-photon emission tomography (SPET) studies in order to assess whether nitrates enhance the detection of viable myocardium with 99mTc-tetrofosmin. Fifteen patients with coronary artery disease, previous myocardial infarction and a left ventricular ejection fraction <40% underwent 201Tl rest-injection and 99mTc-tetrofosmin baseline-postnitroglycerin (0.4 mg sublingually) SPET studies, within 48 h.

Minor psychiatric disorder in primary care in Brazil: a pilot study.

The General Health Questionnaire (GHQ) and the Clinical Interview Schedule (CIS) were translated into Portuguese and were used in a pilot study of psychiatric morbidity in primary care at 'The Health Centre Barra Funda/Bom Retiro' of the Faculty of Medicine of Santa Casa Hospital at Sao Paulo, Brazil. The Portuguese translation of the CIS was found to be a feasible instrument for community studies in Brazil, but the Portuguese translation of the GHQ-30 was shown to be of limited use in this particular setting. The extent of minor psychiatric morbidity was very high (46%); 33% was regarded as conspicuous (CPM) and 13% as hidden (HPM).