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3.
BMJ Case Rep ; 12(12)2019 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-31796460

RESUMO

This case of chronic inflammatory demyelinating polyneuropathy (CIDP) shows that a patient's condition can evolve from the point of admission, gradually manifesting its underlying cause. Our patient's initial presentation of backpain and lower limb weakness prompted investigations which ruled out compressive myelopathy and neuropathy. As upper limb weakness developed later, along with a more proximal and symmetrical pattern of lower limb weakness, the clinical picture suggested polyneuropathy. The diagnosis of CIDP became apparent only after numerous negative tests and nerve conduction studies which identified demyelination. Diagnosing CIDP enabled the commencement of definitive treatment which led to a good recovery.


Assuntos
Acidentes por Quedas , Debilidade Muscular/etiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Idoso , Dor nas Costas/etiologia , Diagnóstico Diferencial , Extremidades/inervação , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Masculino , Metilprednisolona/uso terapêutico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/tratamento farmacológico
4.
BMJ ; 365: l1914, 2019 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-31048314
5.
Epilepsia ; 60(5): 818-829, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30977115

RESUMO

OBJECTIVE: The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. METHODS: The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. RESULTS: Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty-seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio [OR] 0.96, P = 0.018), attention-deficit/hyperactivity disorder (ADHD) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021). SIGNIFICANCE: Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be "true" epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.


Assuntos
Síndrome de DiGeorge/complicações , Epilepsia/genética , Transtornos do Neurodesenvolvimento/genética , Convulsões/genética , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Criança , Síndrome de DiGeorge/epidemiologia , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Transtornos das Habilidades Motoras/epidemiologia , Transtornos das Habilidades Motoras/genética , Transtornos do Neurodesenvolvimento/epidemiologia , Prevalência , Convulsões/epidemiologia , Convulsões/fisiopatologia , Convulsões Febris/epidemiologia , Convulsões Febris/genética , Convulsões Febris/fisiopatologia , Sensibilidade e Especificidade , Inquéritos e Questionários , Reino Unido/epidemiologia , Escalas de Wechsler , Adulto Jovem
6.
Scott Med J ; 61(3): 155-159, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26246524

RESUMO

We write to report a rare case of unilateral cancer-associated retinopathy previously undocumented in the literature. Cancer-associated retinopathy is an uncommon paraneoplastic syndrome. It is characterised by retinal antigen autoantibodies causing rod and cone dysfunction and abnormal electroretinography findings with consequent progressive visual loss.Our patient, known to have a primary cervical intraepithelial neoplasia, presented with unilateral blurred vision as well as a disturbance in colour and night vision. Electroretinography findings of reduced a and b waves in the right eye, together with a fundoscopic appearance of a mottled retinal pigment epithelium, attenuated blood vessels and optic disc pallor were consistent with unilateral cancer-associated retinopathy. Posterior subtenon injections of triamcinolone were administered to control active disease. With periocular steroid injections, at 4 years, our patient's visual acuity remained relatively stable and her condition persisted strictly unilaterally. Cancer-associated retinopathy may be the first presenting sign of an underlying malignancy or may indicate its recurrence. Moreover, in patients with a diagnosed gynaecological malignancy, visual symptoms could reflect cancer-associated retinopathy. In our patient visual symptoms came secondary to the diagnosis of cancer.


Assuntos
Síndromes Paraneoplásicas Oculares/patologia , Retina/patologia , Doenças Retinianas/patologia , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Transtornos da Visão/patologia , Adulto , Autoantígenos/imunologia , Feminino , Humanos , Injeções Intraoculares , Recidiva Local de Neoplasia , Síndromes Paraneoplásicas Oculares/etiologia , Doenças Retinianas/etiologia , Esteroides/administração & dosagem , Resultado do Tratamento , Neoplasias do Colo do Útero/complicações , Transtornos da Visão/etiologia , Displasia do Colo do Útero/complicações
7.
Colloids Surf B Biointerfaces ; 116: 88-92, 2014 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-24448176

RESUMO

Neutral-lipids within oilseeds are most commonly stored in oil bodies, small spherical organelles with oleosin proteins inserted through a phospholipid monolayer. Oil bodies extracted from Echium plantagineum are highly enriched in polyunsaturated fatty acids and are stable to coalescence and oxidation. This stability has been attributed to the strong association between the phospholipid monolayer and oleosin proteins. To better understand this association the phospholipid fatty acyl groups of E. Plantagineum oil bodies were determined for the first time; a large proportion (≈70%) of saturated fatty acids were present, and this may aid in oleosin anchorage and thus contributes to oil body stability. The effect of oil body washing on surface charge was also observed (using turbidity, zeta and streaming potentials), and dependent on the washing protocol, E. Plantagineum oil bodies had an isoelectric point of pH 4-5. This is significantly different to pI values for oil bodies from a range of other seeds reported in the literature using isoelectric focusing; a possible explanation for this discrepancy is discussed.


Assuntos
Echium/química , Gotículas Lipídicas/química , Concentração de Íons de Hidrogênio , Propriedades de Superfície
8.
BMJ ; 337: a2768, 2008 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-19091757

RESUMO

OBJECTIVE: To explore the perceived wisdom that papal mortality is related to the success of the Welsh rugby union team. DESIGN: Retrospective observational study of historical Vatican and sporting data. MAIN OUTCOME MEASURE: Papal deaths between 1883 and the present day. RESULTS: There is no evidence of a link between papal deaths and any home nation grand slams (when one nation succeeds in beating all other competing teams in every match). There was, however, weak statistical evidence to support an association between Welsh performance and the number of papal deaths. CONCLUSION: Given the dominant Welsh performances of 2008, the Vatican medical team should take special care of the pontiff this Christmas.


Assuntos
Catolicismo , Clero/estatística & dados numéricos , Futebol Americano/estatística & dados numéricos , Mortalidade , Humanos , Masculino , Análise de Regressão , País de Gales
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