854 research outputs found
Involuntary Rhythmic Leg Movements Time-Locked With the Respiratory Cycle
Involuntary rhythmic leg movements in childhood is an uncommon condition, the generators of which remain unknown. We report on a male 3 years of age with distinct features providing important clues concerning the location of one of these generators. At the age of 7 months, the previously healthy young male started with low frequency, rhythmic, and continuous
(both during wakefulness and sleep) flexion/extension movements of the lower limbs. Movements interfered significantly with gait acquisition, and, despite normal
cognitive development, he was able to walk only at age 2 years, 4 months. The neurologic examination revealed the absence of automatic stepping in the neonatal
period, but was otherwise normal. A polygraphic electroencephalogram/electromyogram EEG/EMG)
recording, at the age of 2 years, 9 months, revealed rhythmic and synchronous legs with EMG activity at 0.5 Hz. A more complete polygraphic recording at the age of 3 years, 10 months, showed a lower frequency (0.35 Hz) for the movements, which were time-locked
with the respiratory cycle. Magnetic resonance imaging (MRI) of the brain revealed an increased T2 signal in the upper medulla-lower pons regions. The generator
of the rhythmic legs movements is postulated to be the respiratory center, connecting with the reticulospinal projecting neurons through an aberrant pathway
Primary and hospitalar health care: Building a happy marriage
A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and EconomicsWe address the potential integration of the Hospital Dr. Fernando Fonseca E.P.E.
with the Primary Care Units in its geographical coverage area in a Local Health Unit.
We apply semi-structured interviews in order to understand how to best implement
this model of local organization in the referred case. We classify the interviews of
each unit according to pre-determined criteria and suggest measures to be
implemented. Results demonstrate that the hospital is more able to promptly assume
a change process towards the new organizational model when compared to the
primary care units. Moreover, we reached the conclusion that the achievement of the
expected benefits to the whole depends heavily on local characteristics and
implementation process. There is the need to invest in key elements such as the
maintenance and renewal of infrastructures and in a common information system.
Albeit these investments do not assure the achievement of the benefits of an
integrated management system per se, they are essential in the process of
constructing an unique entity
Neuroleptic Malignant Syndrome - Diagnostic Challenges in the Emergency Room
Introdução - Síndroma maligna dos neurolépticos (SMN) é um efeito secundário raro potencialmente fatal destes fármacos.
Relato de caso - Sexo masculino, 18 anos, encefalopatia não progressiva, atraso global do desenvolvimento, epilepsia, perturbação
do comportamento (medicada com haloperidol).
Iniciou febre elevada, desidratação, hematemeses e hematúria. Apresentava hipertermia, taquicardia, polipneia, tensão
arterial instável, hipertonia generalizada e deterioração da consciência. Laboratorialmente destacava-se neutrofilia,
trom bocitopénia, proteína C reactiva ligeiramente aumentada, elevação da creatina-cinase, alterações hepáticas e renais.
Sépsis e SMN foram hipóteses de diagnóstico. Apesar da suspensão do haloperidol e início da terapêutica de suporte, ocorreu
agravamento progressivo e óbito.
Conclusão – Os antipsicóticos são frequentemente utilizados no atraso do desenvolvimento com alterações do comportamento.
Os efeitos adversos graves exigem elevado grau de suspeição e início rápido de terapêutica
Problemas Ginecológicos em Adolescentes com Patologia Neurológica
Introdução: A contracepção e os problemas ginecológicos em adolescentes com patologia neurológica tem uma abordagem geral comum ao grupo etário. Contudo, algumas patologias como a epilepsia e o défice cognitivo (DC) profundo determinam necessidades e desafios adicionais emalguns casos.
Objectivos: Caracterizar as necessidades e os problemas ginecológicos e respectivas opções terapêuticas em dois grupos
de adolescentes com doença neurológica, com e sem DC.
População e Métodos: Revisão casuística das adolescentes referenciadas da Consulta de Neuropediatria para a Consulta de Ginecologia de um hospital materno-infantil entre Janeiro de 1998 e Maio de 2007.
Resultados: Foram identificadas 57 referenciações de adolescentes,37 com défice cognitivo (65%) e 20 sem défice cognitivo (DC). O DC foi classificado como “limiar” (1),ligeiro (7), moderado (8) ou grave/profundo (21). O segundo diagnóstico mais frequente foi a epilepsia (54% no grupo
com DC e 60% no grupo sem DC). A contracepção foi motivo de consulta em 65% dos casos de cada grupo. Em doze
adolescentes, foi utilizado o implante hormonal subcutâneo(10 com DC), e dez iniciaram contracepção oral (4 com DC).
Não houve diferenças na opção por método hormonal em função da existência ou não de epilepsia (p=0,54). A dismenorreia foi a queixa ginecológica mais frequente em ambos
os grupos (N=12). Seis adolescentes com DC profundo foram esterilizadas por necessidade de contracepção e/ou dismenorreia intensa, menorragia ou dificuldades com a
higiene menstrual, incluindo quatro laqueações tubárias laparoscópicas,
duas histerectomias supracervicais e duas histerectomias totais.
Conclusões: A epilepsia não impede a contracepção hormonal em grande parte dos casos. O implante subcutâneo ultrapassa
a dificuldade na adesão à contracepção oral em jovens com DC. Existem questões éticas e legais associadas à esterilização de adolescentes com DC profundo
Osteoporosis in Paediatric Patients with Spina Bifida
The prevalence andmorbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified.
Objective: To review the literature concerning fracture risks and low bone density in paediatric patients with SB.
We looked for studies describing state-of-the-art treatments and for prevention of secondary osteoporosis.
Methods: Articles were identified through a search in the electronic database (PUBMED) supplemented with reviews of the reference lists of selected papers. The main outcome measures were incidence of fractures
and risk factors for fracture, an association between bone mineral density (BMD) and occurrence of fracture,
risk factors of low BMD, and effects of pharmacological and non-pharmacological treatments on BMD and on the incidence of fractures. We considered as a secondary outcome the occurrence of fractures in relation to the mechanism of injury.
Results: Results indicated that patients with SB are at increased risk for fractures and low BMD. Risk factors that may predispose patients to fractures include higher levels of neurological involvement, non-ambulatory status, physical inactivity, hypercalciuria, higher body fat levels, contractures, and a previous spontaneous fracture.
Limitations were observed in the number and quality of studies concerning osteoporosis prevention and treatment in paediatric patients with SB. The safety and efficiency of drugs to treat osteoporosis in adults
have not been evaluated satisfactorily in children with SB
Efficient C-Phase gate for single-spin qubits in quantum dots
Two-qubit interactions are at the heart of quantum information processing.
For single-spin qubits in semiconductor quantum dots, the exchange gate has
always been considered the natural two-qubit gate. The recent integration of
magnetic field or g-factor gradients in coupled quantum dot systems allows for
a one-step, robust realization of the controlled phase (C-Phase) gate instead.
We analyze the C-Phase gate durations and fidelities that can be obtained under
realistic conditions, including the effects of charge and nuclear field
fluctuations, and find gate error probabilities of below 10-4, possibly
allowing fault-tolerant quantum computation.Comment: 5 pages, 3 figure
Molybdenum Cofactor Deficiency. A Differential Diagnosis in a Newborn with Seizures
Descrevemos um lactente com doença neurológica grave caracterizada
por convulsões mioclónicas e tónicas, com início no período neonatal, refractárias a vários anticonvulsivantes, assim como,
tetraparésia espástica. A tomografia computorizada e a ressonância magnética cerebrais evidenciaram imagens de leucomalácia periventricular e, posteriormente, de atrofia cerebral progressiva e encefalomalácia quística.
Os exames bioquímicos e o estudo da actividade enzimática permitiram
o diagnóstico de défice do cofactor molibdénio. O défice do cofactor molibdénio é uma doença rara, autossómica
recessiva, que se comporta como um défice combinado da sulfito oxidase e da xantina desidrogenase (ou xantina oxidase) alterando o metabolismo das purinas e da cisteína. A terapêutica é controversa
e o prognóstico reservado. O nosso objectivo é relembrar esta patologia no diagnóstico diferencial das convulsões neonatais e da encefalopatia hipóxico-
-isquémica, sobretudo quando os exames imagiológicos sugerem lesões de leucomalácia no recém-nascido de termo.
Salientamos a importância deste diagnóstico diferencial, apesar
do prognóstico pobre, devido à possibilidade de aconselhamento genético adequado e diagnóstico pré-natal
Thermal inactivation of Byssochlamys nivea in pineapple nectar combined with preliminary high pressure treatments
Byssochlamys nivea is a thermal resistant filamentous fungi and potential micotoxin producer. Recent studies have verified the presence of ascospores of such microorganism in samples of pineapple nectars. Although the majority of filamentous fungi have limited heat resistance and are easily destroyed by heat, Byssochlamys nivea ascospores have shown high thermal resistance. The aim of this work was to evaluate the application of linear and Weibull models on thermal inactivation (70, 80 and 90ºC) of Byssochlamys nivea ascospores in pineapple nectar after pretreatment with high pressure (550MPa or 650MPa during 15min). Following the treatments, survival curves were built up for each processing temperature and adjusted for both models. It was observed that survival curves at 90°C after high pressure pretreatment at 550 MPa/15 min did not fit well to linear and Weibull models. For all the other treatments, the Weibull model presented a better fit. At 90ºC without pressure treatment, the Weibull model also showed a better adjustment, having a larger R2 and a smaller RMSE. Regarding the process effectiveness, a 5-log reduction (t5), as recommended for pasteurization, was only achieved for Byssochlamys nivea ascospores presented in pineapple nectar at 90ºC/10.7 min with previous high pressure treatment of 650 MPa for 15 min. Considering the high intensity and energy demanding process with possibly product damage, other preventive and alternative treatments are being investigated
Mechanical cleaning of graphene
Contamination of graphene due to residues from nanofabrication often
introduces background doping and reduces charge carrier mobility. For samples
of high electronic quality, post-lithography cleaning treatments are therefore
needed. We report that mechanical cleaning based on contact mode AFM removes
residues and significantly improves the electronic properties. A mechanically
cleaned dual-gated bilayer graphene transistor with hBN dielectrics exhibited a
mobility of ~36,000 cm2/Vs at low temperature.Comment: 4 pages, 4 figure
Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center
Neurotransmitter diseases are a group of inherited disorders attributable
to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain.
Given the multiple functions of monoamines, disorders of their metabolism comprise a
wide spectrum of manifestations, with motor dysfunction being the most prominent
clinical feature.
Methods: Case review of 12 patients from 4 families, with primary disorders of
biogenic amine metabolism.
Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families),
and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified.
Age at first symptoms varied between 2 months and 6 years. Developmental delay was
present in all cases except 2 patients with GTP cyclohydrolase deficiency. The
combination of axial hypotonia and limb dystonia was also frequent. Children with
aromatic L-amino acid decarboxylase deficiency exhibited temperature instability,
oculogyric crisis and disturbances of sleep. The index case of one family with GTP
cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and
hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for
the identification of index cases. Response to therapy was variable but in general
unsatisfactory except in a family with GTP cyclohydrolase deficiency.
Conclusions: These disorders should be considered in the differential diagnosis of
paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial
that can favor prognosis
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