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1.
Postgrad Med J ; 98(1161): 533-538, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37066507

RESUMO

BACKGROUND: Telephone consultations are already employed in specific neurological settings. At Cambridge University Hospitals, the COVID-19 pandemic initially prompted almost all face-to-face appointments to be delivered by telephone, providing a uniquely unselected population to assess. OBJECTIVES: We explored patient and clinician experience of telephone consultations; and whether telephone consultations might be preferable for preidentifiable subgroups of patients after the pandemic. METHODS: Clinicians delivering neurological consultations converted to telephone between April and July 2020 were invited to complete a questionnaire following each consult (430 respondents) and the corresponding patients were subsequently surveyed (290 respondents). The questionnaires assessed clinician and patient goal achievement (and the reasons for any dissatisfaction). Clinicians also described consultation duration (in comparison to face to face) while patients detailed comparative convenience and preference. RESULTS: The majority of clinicians (335/430, 78%) and patients (227/290, 78%) achieved their consultation goals by telephone, particularly during follow-up consultations (clinicians 272/329, 83%, patients 176/216, 81%) and in some disease subgroups (eg, seizures/epilepsy (clinicians 114/122 (93%), patients 71/81 (88%)). 95% of telephone consultations were estimated to take the same or less time than an equivalent face-to-face consultation. Most patients found telephone consultations convenient (69%) with 149/211 (71%) indicating they would like telephone or video consultations to play some role in their future follow-up. CONCLUSION: Telephone consultations appear effective, convenient and popular in prespecified subgroups of neurological outpatients. Further work comparing telephone, video and face-to-face consultations across multiple centres is now needed.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , Encaminhamento e Consulta , Pandemias , Telefone , Avaliação de Resultados da Assistência ao Paciente
2.
Nat Neurosci ; 24(11): 1542-1554, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34675437

RESUMO

Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal and currently untreatable disease characterized by rapid cognitive decline and paralysis. Elucidating initial cellular pathologies is central to therapeutic target development, but obtaining samples from presymptomatic patients is not feasible. Here, we report the development of a cerebral organoid slice model derived from human induced pluripotent stem cells (iPSCs) that recapitulates mature cortical architecture and displays early molecular pathology of C9ORF72 ALS/FTD. Using a combination of single-cell RNA sequencing and biological assays, we reveal distinct transcriptional, proteostasis and DNA repair disturbances in astroglia and neurons. We show that astroglia display increased levels of the autophagy signaling protein P62 and that deep layer neurons accumulate dipeptide repeat protein poly(GA), DNA damage and undergo nuclear pyknosis that could be pharmacologically rescued by GSK2606414. Thus, patient-specific iPSC-derived cortical organoid slice cultures are a reproducible translational platform to investigate preclinical ALS/FTD mechanisms as well as novel therapeutic approaches.


Assuntos
Esclerose Lateral Amiotrófica/patologia , Astrócitos/patologia , Demência Frontotemporal/patologia , Neurônios/patologia , Organoides/patologia , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/metabolismo , Astrócitos/metabolismo , Proteína C9orf72/genética , Proteína C9orf72/metabolismo , Demência Frontotemporal/genética , Demência Frontotemporal/metabolismo , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Células-Tronco Pluripotentes Induzidas/patologia , Neurônios/metabolismo , Técnicas de Cultura de Órgãos/métodos , Organoides/metabolismo
3.
J Plast Reconstr Aesthet Surg ; 70(11): 1505-1513, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28684286

RESUMO

BACKGROUND: The use of abdominal tissue in post-mastectomy autologous breast reconstruction is a popular choice among reconstructive surgeons. This is the first study to evaluate donor complications comparing unilateral, bilateral, and bipedicled DIEP breast reconstructions. METHODS: A retrospective chart review was conducted of all women undergoing rib-preserving DIEP free flap breast reconstruction at a University Hospital between 2008 and 2015 by the senior surgeon (CMM). RESULTS: A total of 130 patients were included in this study and were divided into three groups: unipedicled unilateral (n = 93), unipedicled bilateral (n = 19), and bipedicled unilateral (n = 18). Relative to the unipedicled unilateral group, the age and BMI-adjusted odds of complication were almost two-fold higher in the bilateral group [Odds ratio (95% CI): 1.97 (0.63, 6.19)] and approximately halved in the bipedicled group [Odds ratio (95% CI): 0.59 (0.22, 1.61)]; however, these associations were not statistically significant. Overall, 75% of complications were managed conservatively. The majority of Clavien-Dindo grade 3 complications were observed in participants from the unipedicled unilateral group (84%), whereas no patients in the bipedicled group developed morbidity that required recourse to surgery or readmission to hospital. CONCLUSIONS: Although further research with greater statistical power will be valuable, the results of this investigation provide evidence that donor site morbidity of bipedicled DIEP free flap breast reconstructions does not increase when compared with those of unipedicled unilateral and unipedicled bilateral surgical procedure types.


Assuntos
Retalhos de Tecido Biológico , Mamoplastia/métodos , Complicações Pós-Operatórias/epidemiologia , Reto do Abdome/transplante , Doadores de Tecidos , Adulto , Feminino , Seguimentos , Sobrevivência de Enxerto , Humanos , Incidência , Mastectomia , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Reino Unido/epidemiologia
4.
Cell Metab ; 23(5): 893-900, 2016 05 10.
Artigo em Inglês | MEDLINE | ID: mdl-27157046

RESUMO

Sequencing of candidate genes for obesity in Labrador retriever dogs identified a 14 bp deletion in pro-opiomelanocortin (POMC) with an allele frequency of 12%. The deletion disrupts the ß-MSH and ß-endorphin coding sequences and is associated with body weight (per allele effect of 0.33 SD), adiposity, and greater food motivation. Among other dog breeds, the deletion was only found in the closely related flat-coat retriever (FCR), where it is similarly associated with body weight and food motivation. The mutation is significantly more common in Labrador retrievers selected to become assistance dogs than pets. In conclusion, the deletion in POMC is a significant modifier of weight and appetite in Labrador retrievers and FCRs and may influence other behavioral traits.


Assuntos
Apetite/genética , Peso Corporal/genética , Deleção de Genes , Obesidade/genética , Pró-Opiomelanocortina/genética , Adiposidade/genética , Sequência de Aminoácidos , Animais , Pareamento de Bases , Sequência de Bases , Células COS , Chlorocebus aethiops , Cães , Comportamento Alimentar , Genótipo , Pró-Opiomelanocortina/química , Pró-Opiomelanocortina/metabolismo , Receptores de Melanocortina/metabolismo , beta-MSH/metabolismo
5.
Psychiatr Danub ; 27 Suppl 1: S273-8, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26417779

RESUMO

This short paper is an attempt to integrate what we know about the biological development of schizophrenia. It attempts to integrate Neurodevelomental, Dopamine, Glutamate, Salience and Psychological theories of the development of schizophrenia into a unitary whole, and thus to illustrate how these theories relate together. It is a summary of a much larger work, presently in preparation, done for the purposes of the present coference. It attempts to describe the biological development of schizophrenia, and thence the delusions and hallucinations which play a part in it symptomatically.


Assuntos
Encéfalo/fisiopatologia , Delusões/fisiopatologia , Delusões/psicologia , Psicologia do Esquizofrênico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/fisiopatologia , Transtornos Cognitivos/psicologia , Delusões/diagnóstico , Dopamina/fisiologia , Ácido Glutâmico/fisiologia , Humanos , Rede Nervosa/fisiopatologia , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/fisiopatologia , Transtornos do Neurodesenvolvimento/psicologia , Teoria Psicológica
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