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1.
Eur Spine J ; 33(1): 198-204, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38006474

RESUMO

PURPOSE: This study aims to demonstrate a correlation between cervical spine injury and location and severity of facial trauma. METHODS: We did a 10-year retrospective analysis of prospectively collected patients with at least one facial and/or cervical spine injury. We classified facial injuries using the Comprehensive Facial Injury (CFI) score, and stratified patients into mild (CFI < 4), moderate (4 ≤ CFI < 10) and severe facial trauma (CFI ≥ 10). The primary outcome was to recognize the severity and topography of the facial trauma which predict the probability of associated cervical spine injuries. RESULTS: We included 1197 patients: 78% with facial injuries, 16% with spine injuries and 6% with both. According to the CFI score, 48% of patients sustained a mild facial trauma, 35% a moderate one and 17% a severe one. The midface was involved in 45% of cases, then the upper facial third (13%) and the lower one (10%). The multivariate analysis showed multiple independent risk factors for associated facial and cervical spine injuries, among them an injury of the middle facial third (OR 1.11 p 0.004) and the facial trauma severity, having every increasing point of CFI score a 6% increasing risk (OR 1.06 p 0.004). CONCLUSIONS: Facial trauma is a risk factor for a concomitant cervical spine injury. Among multiple risk factors, severe midfacial trauma is an important red flag. The stratification of facial injuries based on the CFI score through CT-scan images could be a turning point in the management of patients at risk for cervical spine injuries before imaging is available.


Assuntos
Traumatismos Faciais , Lesões do Pescoço , Traumatismos da Coluna Vertebral , Humanos , Estudos Retrospectivos , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/lesões , Traumatismos Faciais/diagnóstico por imagem , Traumatismos Faciais/epidemiologia , Traumatismos Faciais/complicações , Traumatismos da Coluna Vertebral/diagnóstico por imagem , Traumatismos da Coluna Vertebral/epidemiologia , Traumatismos da Coluna Vertebral/etiologia , Lesões do Pescoço/complicações , Fatores de Risco , Escala de Gravidade do Ferimento
2.
J Chem Phys ; 158(6): 064505, 2023 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-36792521

RESUMO

Among the ice mixtures that can be found in our universe, those involving ethylene are poorly studied even though ethylene reportedly exists in the presence of water in several astrochemical domains. Here, we report on the chemistry of ethylene and water mixtures in both pressure (0-15 GPa) and temperature (300-370 K) ranges relevant to celestial bodies conditions. The behavior of the binary mixture has been tracked, starting from the ethylene clathrate hydrate and following its evolution through two different crystalline phases up to 2.10 GPa, where it decomposes into a solid mixture of water ice and crystalline ethylene. The pressure and temperature evolution of this mixture has been studied up to the complete transformation of ethylene into polyethylene and compared with that of the pure hydrocarbon, reporting here for the first time its spectroscopic features upon compression. The spectroscopic analysis of the recovered polymers from the ice mixtures provided hints about the reactivity of the monomer under the environmental stress exerted by the water network. The results of this study are expected to be significant in a variety of fields ranging from astrochemistry to material science and also to fundamental chemistry, particularly regarding the study and modelization of the behavior of complex mixtures.

3.
J Chem Phys ; 158(3): 034505, 2023 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-36681651

RESUMO

Carbon nanothreads are the most exciting carbon based nanomaterials recently discovered. Obtained by compressing aromatics around 20 GPa, they are characterized by potentially exceptional mechanical properties. The reaction mechanisms have been partly elucidated through computational studies and x-ray diffraction experiments. However, in all these studies, the electronic modifications to which the molecule is subjected with increasing pressure are neglected as also if, and to which extent, the electronic excited states are involved in the high-pressure reactivity. In fact, the pressure increase induces remarkable changes in the electronic properties of molecular crystals, which are often directly related to the reaction's onset and path. We report the pressure evolution of the two-photon induced emission spectrum of crystalline stilbene, the archetype of a class of molecules from which double-core nanothreads are obtained, with the twofold purpose of gaining insight into the reaction mechanism and monitoring if the structural changes observed in x-ray diffraction studies have a detectable counterpart in the electronic properties of the system. The freezing of the spectral diffusion observed on rising pressure is ascribed to a hampered conformational rearrangement because of the larger stiffness of the local environment. The transition to the high pressure phase where the nanothreads form is revealed by the slope change of the pressure shift of all spectral components, while the progressive intensification with pressure of the 0-0 transition suggests a strengthening of the ethylenic bond favoring the charge delocalization on the benzene moieties, which is likely the trigger of the chemical instability.


Assuntos
Estilbenos , Conformação Molecular , Análise Espectral Raman , Difração de Raios X
4.
Chem Commun (Camb) ; 58(87): 12200-12203, 2022 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-36239130

RESUMO

We have created sequenced phosphoester-linked trimers of aromatic donor/acceptors which participate in charge-transfer interactions. Each sequence displays characteristic self-assembly, and complementary sequences interact with each other to produce new nanostructures and thermochromism. This paves the way towards new functional nanomaterials which make bio-analogous use of sequence to tune structure.


Assuntos
Nanoestruturas , Nanoestruturas/química
5.
Gait Posture ; 58: 59-65, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28738226

RESUMO

Musculoskeletal injuries are related to the cushioning properties of boots in military populations. This study aimed to compare ground reaction force (GRF) and subjective perceived comfort from two different military boots supplied by the Brazilian Army with a commercial boot. Twenty army recruits volunteered for a GRF assessment during walking on a 10-m walkway and a perceived comfort test after 20min walking on a treadmill. Both experiments were conducted with three different military boots: CC10 (styrene-butadiene rubber - SBR - midsole 30mm thickness, 65 Shore A; 631.8g weight; supplied by the Brazilian Army); CC13 (SBR midsole 20.6mm thickness, 66 Shore A; 530.3g weight; supplied by the Brazilian Army) and CAT (polyurethane - PU - midsole 31.7mm thickness, 55 Shore A; 423g weight; commercially available). GRF was analyzed in the time (principal component analysis - PCA) and frequency (Blackman-Tukey) domains. No difference was found for the first and second peak forces or loading rate; however, significant influence from the military boots' design on GRF was found by PCA and frequency analysis. Loading factor presented higher values at early stance with lower force for CC10 compared to CC13 at these epochs. CC13 also presented higher power spectral density compared to CC10 at higher frequency bands. However, CAT was significantly more comfortable than CC10. These results suggest that the thicker SBR midsole boot was more effective in reducing impact, while the lightest boot with softer midsole hardness made with PU was the most comfortable.


Assuntos
Marcha/fisiologia , Sapatos/estatística & dados numéricos , Caminhada/fisiologia , Adolescente , Adulto , Fenômenos Biomecânicos , Teste de Esforço , Dureza , Humanos , Masculino , Militares , Análise de Componente Principal , Adulto Jovem
6.
J Sports Med Phys Fitness ; 55(9): 892-8, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26470634

RESUMO

AIM: It remains unclear if cyclists with better performance have less asymmetry. Therefore, this study aimed at assessing the relationship between cycling time trial performance and bilateral asymmetries in pedal forces. METHODS: Ten cyclists/triathletes performed an incremental cycling test to exhaustion to measure maximal oxygen uptake and power output. In a second session, bilateral pedal forces were acquired during a 4-km cycling time trial on the stationary cycle ergometer. Resultant and effective forces were computed along with the index of effectiveness at 500 m sections of the time trial using instrumented pedals. Intra-limb variability and the asymmetry index were calculated for each force variable. RESULTS: Multivariate analysis assessed bilateral differences in pedal forces accounting for power output, pedalling cadence and oxygen uptake of each cyclist. Force variables did not change throughout the test (effective - P=0.98, resultant - P=0.90 and index of effectiveness - P=0.99) with larger force applied by the dominant limb (11-21%). The relationship between asymmetries and performances was strong for the effective force (r=-0.72) but weak for the resultant force (r = 0.01) and for the index of effectiveness (r=-0.29). Substantial asymmetries were observed for the effective force (36-54%), resultant force (11-21%) and for the index of effectiveness (21-32%) at greater range than intra-limb variability (effective force =8-22%, resultant force =5-10% and index of effectiveness =1-3%). CONCLUSION: Larger asymmetries in effective force were related to better performances during the 4-km time trial with low intra-limb variability for force measures suggesting consistence in asymmetries for individual cyclists.


Assuntos
Desempenho Atlético/fisiologia , Ciclismo/fisiologia , Pé/fisiologia , Adulto , Fenômenos Biomecânicos , Estudos Transversais , Feminino , Humanos , Masculino
7.
Ann R Coll Surg Engl ; 96(5): e31-3, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24992411

RESUMO

Mucormycosis is a life threatening condition caused by invasion of fungi of the order Mucorales. Gastrointestinal invasion is very rare and often lethal, particularly in disseminated mucormycosis. We present the case of a 26-year-old woman from North Africa with type 2 diabetes who, after a cholecystectomy, developed unexplained septic shock and haematemesis due to gastric necrosis. Computed tomography (CT) revealed a disseminated fungal invasion of the lungs, kidney and paranasal sinuses. A gastrectomy and subsequent amphotericin B treatment resolved her condition. The number of patients with mucormycosis is increasing. Early diagnosis of high risk patients with CT and biopsies from which fungi are directly isolated must be followed by surgery and systemic amphotericin B infusion.


Assuntos
Hematemese/microbiologia , Mucormicose/cirurgia , Gastropatias/cirurgia , Estômago/patologia , Adulto , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Feminino , Gastrectomia/métodos , Humanos , Nefropatias/tratamento farmacológico , Pneumopatias Fúngicas/tratamento farmacológico , Mucormicose/tratamento farmacológico , Necrose/cirurgia , Doenças dos Seios Paranasais/tratamento farmacológico , Choque Séptico/microbiologia , Gastropatias/tratamento farmacológico , Tomografia Computadorizada por Raios X
8.
Int J Surg Case Rep ; 4(8): 648-50, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23774333

RESUMO

INTRODUCTION: Myotonic dystrophy of Steinert, DM1, is the most common adult muscular dystrophy and generally is not associated to development on multiple site neoplasm. Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome that is associated to tumors such as hemangioblastoma of the retina or central nervous system, clear-cell renal carcinoma (RCC) and endocrine tumors, most commonly pheochromocytoma and non-secretory pancreatic islet cell cancers. No data exist in literature describing the coexistence of both DM1 and VHL. PRESENTATION OF CASE: Herein we report a case of renal and pancreatic neoplasm in a young adult female affected by DM1 and VHL simultaneously. DISCUSSION: DM1 is due to an unstable trinucleotide (CTG) expansion in the 30 antranslated region of the dystrophia myotonica-protein kinase (DMPK) gene, located on chromosome 19q13.3. Several molecular mechanisms thought to be determining the classical DM phenotype have been shown. VHL disease is characterized by marked phenotypic variability and the most common tumors are hemangioblastomas of the retina or central nervous system, clear-cell renal carcinoma (RCC) and endocrine tumors, most commonly pheochromocytoma and non-secretory pancreatic islet cell cancers. The pancreatic manifestations seen in patients with VHL disease are divided into 2 categories: pancreatic neuroendocrine tumor (PNET) as solid tumors, and cystic lesions, including a simple cyst and serous cystadenoma. The surgical approach for these cistic lesions is to consider as golden standard. Blansfield has proposed 3 criteria to predict metastatic disease of PNET in patients with VHL disease: (1) tumor size greater than or equal to 3cm; (2) presence of a mutation in exon 3; and (3) tumor doubling time less than 500d. If the patient has none of these criteria the patient could be followed with physical examination and radiological surveillance on a 2/3 years base.(4) If the patient has 1 criterion, the patient should be followed more closely every 6 months to 1 year. If the patient has 2 or 3 criteria, the patient should be considered for surgery given the high risk of future malignancy. Our patient owned only one criterion but in presence of a second malignant tumor. Our hypothesis for this rare findings is that both DM and VHL might be derived from genetic aberration and these might be linked to a major cancer susceptibility. As far as we know this is the first confirmed case of RCC and neuroendocrine pancreatic cancer occurring concurrently with VHL and, at the same time, DM1. According to this case report and the literature data a VHL should be ruled out in the presence of RCC presenting along with pancreatic cysts/tumor. CONCLUSION: As far as we know this is the first confirmed case of RCC and neuroendocrine pancreatic cancer occurring concurrently with VHL and, at the same time, DM1. Our hypothesis for the unusual findings is that both DM and VHL derived from genetic aberration and these are linked to a major cancer susceptibility.

9.
Biosens Bioelectron ; 26(12): 4785-90, 2011 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-21719269

RESUMO

Development of nucleic acid-based sensing attracts the interest of many researchers in the field of both basic and applied research in chemistry. Major factors for the fabrication of a successful nucleic acid sensor include the design of probes for target sequence hybridization and their immobilization on the chip surface. Here we demonstrate that a rational choice of bioprobes has important impact on the sensor's analytical performances. Computational evaluations, by a simple and freely available program, successfully led to the design of the best probes for a given target, with direct application to nucleic acid-based sensing. We developed here an optimized and reproducible strategy for in silico probe design supported by optical transduction experiments. In particular Surface Plasmon Resonance imaging (SPRi), at the forefront of optical sensing, was used here as proof of principle. Five probes were selected, immobilized on gold chip surfaces by widely consolidated thiol chemistry and tested to validate the computational model. Using SPRi as the transducting component, real-time and label free analysis was performed, taking the Homo sapiens actin beta (ACTB) gene fragment as model system in nucleic acid detection. The experimental sensor behavior was further studied by evaluating the strength of the secondary structure of probes using melting experiments. Dedicated software was also used to evaluate probes' folding, to support our criteria. The SPRi experimental results fully validate the computational evaluations, revealing this approach highly promising as a useful tool to design biosensor probes with optimized performances.


Assuntos
Actinas/genética , Sondas de DNA/química , Ácidos Nucleicos/análise , Software , Ressonância de Plasmônio de Superfície/métodos , Sequência de Bases , Sondas de DNA/genética , Humanos , Dados de Sequência Molecular , Conformação de Ácido Nucleico , Desnaturação de Ácido Nucleico , Ácidos Nucleicos/genética , Reprodutibilidade dos Testes
10.
Appl Opt ; 48(32): 6381-91, 2009 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-19904340

RESUMO

The performance of high voltage gas circuit breakers depends on the temperature distribution of hot gas or plasma from the arc zone mixed with cold gas that is present, for example, in the exhausts and mixing volume. Understanding the details of the mixing process is imperative to estimate the temperature distribution within the entire breaker volume. Design studies rely on computational fluid dynamics (CFD) simulations to search for the best way to achieve satisfactory mixing. One key uncertainty in the CFD simulations is the role of turbulence in this process and how to properly account for it. To gain knowledge of the mixing process between hot and cold gases, we have constructed a simplified breaker geometry that is flexible and accessible to diagnostics. Apart from standard measurements of current and arc voltage, we measure pressure in the arc zone and the mixing volume. Further, the mixing volume is specially designed to be transparent, allowing us to make shadowgraphy measurements of the turbulent mixing during and after the arcing phase. We report on experiments performed in air at atmospheric pressure.

11.
Int J Sports Med ; 29(9): 746-52, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18302076

RESUMO

This study investigated the effects of changing cadence and workload on pedaling technique. Eight cyclists were evaluated during an incremental maximal cycling and two 30-minute submaximal trials at 60% and 80% of maximal power output (W(60%) and W(80%), respectively). During submaximal 30-minute trials, they cycled for 10 minutes at a freely chosen cadence (FCC), 10 minutes at a cadence 20% above FCC (FCC+20%), and 10 minutes at a cadence 20% below FCC (FCC-20%). Pedal forces and kinematics were evaluated. The resultant force (RF), effective force (EF), index of effectiveness (IE) and IE during propulsive and recovery phase (IEprop and IErec, respectively) were computed. For W(60%), FCC-20% and FCC presented higher EFmean (69+/-9 N and 66+/-14 N, respectively) than FCC+20% (52+/-14 N). FCC presented the highest IEprop (81+/-4%) among the cadences (74+/-4 and 78+/-5% for FCC-20% and FCC+20%, respectively). For W(80%), FCC presented higher EFmean (81+/-5 N) than FCC+20% (72 +/- 10 N). The FCC-20% presented the lower IEprop (71+/-7%) among the cadences. The EFmin was higher for W(80%) than W(60%) for all cadences. The IE was higher at W (80%) (61+/-5%) than W (60%) (54+/-9%) for FCC+20% (all p<0.05). Lower cadences were more effective during the recovery phase for both intensities and FCC was the best technique during the propulsive phase.


Assuntos
Adaptação Fisiológica , Ciclismo/fisiologia , Tolerância ao Exercício/fisiologia , Contração Muscular/fisiologia , Músculo Esquelético/fisiologia , Carga de Trabalho , Adulto , Fenômenos Biomecânicos , Comportamento Competitivo , Teste de Esforço , Humanos , Masculino , Consumo de Oxigênio , Projetos Piloto
12.
Minerva Gastroenterol Dietol ; 52(4): 437-40, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17108873

RESUMO

The rare association between Von Recklin-ghausen's disease (VRD) and tumours other than in central nervous system is well recognized. However, the concomitance of VRD, a carcinoid of the ampulla of Vater, and a pheochromocytoma has been described very rarely in literature. Furthermore, the possible role of the genes usually involved in multiple endocrine neoplasia (MEN) syndromes, in this association, is unclear. We report the case of a patient affected by VRD and extra-adrenal pheochromocytoma, operated on in the past for a carcinoid of the ampulla of Vater. To determine if genes involved in MEN syndromes might play a role in this particular triad, we investigated the presence of somatic or germline mutations in the RET proto-oncogene and menin gene by non isotopic polymerase chain reaction single stranded conformation polymorphism (PCR-SSCP) and heteroduplex gel electro-phoresis. The results demonstrated that no somatic or germline mutations in the MEN-1 and MEN-2 genes were involved in the pathogenesis of these tumours.


Assuntos
Ampola Hepatopancreática , Tumor Carcinoide/complicações , Neoplasias do Ducto Colédoco/complicações , Neoplasia Endócrina Múltipla/genética , Neurofibromatose 1/complicações , Feocromocitoma/complicações , Adulto , Tumor Carcinoide/patologia , Tumor Carcinoide/secundário , Endossonografia , Feminino , Mutação em Linhagem Germinativa , Humanos , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/secundário , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/genética , Neurofibroma/complicações , Neurofibroma/genética , Neurofibromatose 1/genética , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/genética , Feocromocitoma/genética , Proto-Oncogene Mas
13.
Pediatr Cardiol ; 23(1): 32-5, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11922504

RESUMO

The objective of this study was to evaluate growth in infants with d-transposition of the great arteries (d-TGA) who underwent switch operation (anatomical correction) in the early neonatal period. Growth data (at birth and 1, 3, 6, 12, and 24 months of age) were retrieved in 23 infants with d-TGA who survived the operation without major complications. Measures were transformed into z scores and compared with normative data for age. Following surgery, infants showed low z scores for weight, height, and head circumference. Weight and height showed a trend to reach normal ranges between 6 and 12 months of age, and the z scores were positive at 24 months. z scores for head circumference were still negative at 24 months of age. No dietary interventions were implemented during this period, and the infants were fed their own mothers' milk or, before discharge, high-calorie, preterm formula. Following anatomical correction for d-TGA in the early neonatal period, infant growth shows a characteristic pattern, with parameters normalized by 12 months of age in most cases. Head growth shows a different pattern, although gross motor development seems unaffected.


Assuntos
Crescimento/fisiologia , Transposição dos Grandes Vasos/fisiopatologia , Peso ao Nascer , Estatura , Peso Corporal , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Crânio/anatomia & histologia , Crânio/crescimento & desenvolvimento , Transposição dos Grandes Vasos/cirurgia , Função Ventricular/fisiologia
14.
Ital Heart J ; 2(11): 854-7, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11770872

RESUMO

Stroke in children is a rare condition and has a multifactorial etiology. The association between ischemic stroke in young adults and some minor cardiac abnormalities such as atrial septal aneurysm with or without interatrial shunting has recently been reported: however, the pathogenetic mechanism still remains unclear. Genetic and acquired prothrombotic disorders are also risk factors for cerebral ischemic events in children. We report a case of ischemic stroke in a 10-year-old female child who was heterozygous for the prothrombin G20210A variant and who presented with an atrial septal aneurysm associated with an interatrial shunt. We hypothesize that these risk factors play a synergic role but their relative importance and whether alone they can determine cerebral embolism remain to be determined.


Assuntos
Transtornos Herdados da Coagulação Sanguínea/complicações , Aneurisma Cardíaco/diagnóstico por imagem , Protrombina/genética , Acidente Vascular Cerebral/etiologia , Transtornos Herdados da Coagulação Sanguínea/genética , Criança , Feminino , Aneurisma Cardíaco/complicações , Átrios do Coração/diagnóstico por imagem , Septos Cardíacos/diagnóstico por imagem , Humanos , Angiografia por Ressonância Magnética , Ultrassonografia
15.
J Interv Cardiol ; 14(3): 319-24, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12053391

RESUMO

BACKGROUND: The STARFlex (SF) device is a CardioSEAL (CS) double-umbrella device that has been modified by the addition of a self-centering mechanism comprised of nitinol springs connected between the two umbrellas and a flexible core wire with a pin-pivoting connection. This paper compares the results of atrial septal defect (ASD) closure with CardioSEAL and STARFlex devices. PATIENTS AND METHODS: Between December 1996 and March 2000, 117 patients underwent ASD closure with CardioSEAL (n = 79) and STARFlex (n = 38). The mean age (17 years), weight (49 kg), and ASD size (15 mm) were similar in the two groups. The procedures were performed under general anesthesia with both fluoroscopic and transesophageal echocardiographic monitoring. IMMEDIATE RESULTS: The devices were successfully implanted in all patients. Ten patients had multiple ASDs. A single device was used in four patients (CardioSEAL in three, STARFlex in one), while a simultaneous placement of two CardioSEAL (one patient) or two STARFlex (five patients) were performed in six patients. The results are summarized as follows: [table: see text] Follow-Up Results: On follow-up clinical exam, electrocardiograms, chest X-rays, and echocardiograms were obtained at 1, 6, and 12 months. [table: see text] During follow-up there were no deaths, endocarditis, rhythm disturbances, or other complications. Arm fractures were observed almost exclusively with large CardioSEAL devices (40 mm, less frequently with 33 mm), and only in one 33-mm STARFlex device. There were no clinical complications related to fractures. CONCLUSIONS: The STARFlex device seems to offer better results than the CardioSEAL, with significantly lower rates of residual shunts and arm fractures.


Assuntos
Cateterismo Cardíaco , Embolização Terapêutica/instrumentação , Comunicação Interatrial/terapia , Adolescente , Seguimentos , Humanos , Resultado do Tratamento
17.
Minerva Ginecol ; 51(5): 197-201, 1999 May.
Artigo em Italiano | MEDLINE | ID: mdl-10431530

RESUMO

Patency of the ductus arteriosus (DA) is maintained during gestation by locally produced and circulating prostaglandins (PGE's). As gestation proceeds, the ductus becomes less sensitive to dilating prostaglandins and more sensitive to constricting factors such as PGE's synthetase inhibitors. This case report describes a fetus at term (38 weeks) with signs of severe right ventricular failure due to constriction of DA. Maternal history documented 5 day assumption of a non-steroid antiinflammatory agent to relieve skeletal-muscle pain. Careful echocardiogram ruled out a structural heart disease, such as coarctation of the aorta. A gradient of 41 mmHg across the ductus was recorded. A cesarean section delivery was immediately undertaken. The 3.5 kg newborn delivered appeared to be in good health, with Apgar score of 8/9 at 1 and 5'. There were no signs of congestive heart failure and mild respiratory distress. An echocardiogram showed a dilated, well contractile right ventricle, with a pressure of 50 mmHg. DA was already closed. The fetal echocardiogram was the most relevant investigation in the decision-making process of this case treatment. Any different evaluation of this fetal heart, delaying the delivery would have very seriously compromised the survival of the fetus. Fetal echocardiography is the most important diagnostic tool in the evaluation of the fetal heart; non steroid antiinflammatory drugs to mother at term should be avoided or given with close echocardiographic assessment of DA patency.


Assuntos
Permeabilidade do Canal Arterial/diagnóstico por imagem , Ecocardiografia , Complicações na Gravidez/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Cesárea , Feminino , Coração Fetal/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Gravidez
18.
Am J Hum Genet ; 64(2): 586-93, 1999 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9973297

RESUMO

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 10 , Sequência de Bases , Neurite do Plexo Braquial/genética , Catarata/genética , Mapeamento Cromossômico , Feminino , Refluxo Gastroesofágico/genética , Haplótipos , Humanos , Itália , Masculino , Dados de Sequência Molecular , Paraparesia Espástica Tropical/genética , Linhagem , Síndrome
19.
J Auton Nerv Syst ; 71(2-3): 159-66, 1998 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-9760052

RESUMO

There is no general agreement regarding several aspects of the role of the sympathetic system on cerebral haemodynamics such as extent of effectiveness, operational range and site of action. This study was planned to identify the effect of a generalised sympathetic activation on the cerebral haemodynamics in healthy humans before it is masked by secondary corrections, metabolic or myogenic in nature. A total of 35 healthy volunteers aged 20-35 underwent a 5 min lasting cold pressor test (CPT) performed on their left hand. The cerebral blood flow (CBF) velocity in the middle cerebral arteries and arterial blood pressure were recorded with transcranial Doppler sonography and with a non-invasive finger-cuff method, respectively. The ratio of arterial blood pressure to mean blood velocity (ABP/Vm) and Pulsatility Index (PI) were calculated throughout each trial. CPT induced an increase in mean ABP (range 2-54 mmHg depending on the subject) and only a slight, though significant, increase in blood velocity in the middle cerebral artery (+2.4 and +4.4% on ipsi- and contralateral side, respectively). During CPT, the ratio ABP/Vm increased and PI decreased in all subjects on both sides. These changes began simultaneously with the increase in blood pressure. The increase in ABP/Vm ratio is attributed to an increase in the cerebrovascular resistance, while the concomitant reduction in PI is interpreted as due to the reduction in the compliance of the middle cerebral artery. The results suggest that generalised increases in the sympathetic discharge, causing increases in ABP, can prevent concomitant increases in CBF by acting on both small resistance and large compliant vessels. This effect is also present when a slight increase in blood pressure occurs, which suggests a moderate increase in the sympathetic discharge, i.e. when ABP remains far below the upper limit of CBF autoregulation.


Assuntos
Encéfalo/irrigação sanguínea , Circulação Cerebrovascular/fisiologia , Temperatura Baixa , Sistema Nervoso Simpático/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo/fisiologia , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/fisiologia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Ultrassonografia Doppler Transcraniana , Resistência Vascular/fisiologia
20.
G Ital Cardiol ; 27(2): 168-72, 1997 Feb.
Artigo em Italiano | MEDLINE | ID: mdl-9244720

RESUMO

A 16 year old girl underwent percutaneous balloon dilation of the pulmonary valve. The procedure was carried out in the catheterization laboratory under transesophageal echocardiographic guidance with the patient anesthetized (ketamine) without endotracheal intubation. A 64 elements phased array "omniplane" TEE probe connected to a Sonos 1500 Hewlett-Packard system was used. The transducer assembly encased within the tip of the endoscope can be rotated through a 180 degrees arc counterclockwise and clockwise, thus obtaining a multitude of imaging planes. The right ventricular outflow tract and pulmonary valve could be visualized very well and therefore monitored accurately during all phases of the procedure. In the future this technique will be able to reduce the need for X-ray exposure and dye injection during percutaneous pulmonary valvuloplasty especially in cases in which their use could be contraindicated.


Assuntos
Angioplastia Coronária com Balão , Ecocardiografia Transesofagiana , Monitorização Intraoperatória/instrumentação , Insuficiência da Valva Pulmonar/terapia , Valva Pulmonar , Adolescente , Feminino , Humanos , Monitorização Intraoperatória/métodos
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