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1.
BMJ Case Rep ; 12(7)2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31308188

RESUMO

A term girl infant delivered following foetal distress presented with early respiratory distress syndrome and lactic acidaemia. She subsequently underwent detailed investigation for primary lactic acidaemia and was identified as homozygous for the c.515A>G,p.(Tyr172Cys) missense variant in the LRPPRC gene. Variants in this gene are known to cause French-Canadian type Leigh syndrome. Both parents were confirmed to be heterozygous for this mutation. This is the first case report of mitochondrial respiratory chain complex IV deficiency presenting as foetal distress and neonatal respiratory distress syndrome.


Assuntos
Deficiência de Citocromo-c Oxidase/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Acidose Láctica/etiologia , Consanguinidade , Deficiência de Citocromo-c Oxidase/genética , Evolução Fatal , Feminino , Homozigoto , Humanos , Recém-Nascido , Doença de Leigh/genética , Mutação/genética , Proteínas de Neoplasias/genética , Doenças Raras
2.
Curr Urol ; 9(4): 216-218, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28413384

RESUMO

We present the case of a 37-year-old man who presented with a penile lesion that engorged on erection. Ultrasound examination demonstrated vascularity of the lesion and the decision was made to perform a complete excision. Histological analysis confirmed the diagnosis of a pyogenic granuloma of the penis. Follow-up demonstrated no recurrence at 3 months.

3.
Prim Health Care Res Dev ; 17(2): 166-74, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25864374

RESUMO

UNLABELLED: Introduction Waterpipe tobacco smoking (WTS), known in the United Kingdom as shisha, is popular among adolescents worldwide. Some electronic cigarettes are marketed in the United Kingdom as 'electronic shisha' (e-shisha). This study aimed to understand how WTS users view e-shisha and whether it could be used as a harm-reduction or cessation aid. METHOD: In-depth face-to-face interviews were conducted with 16 young adults recruited by snowball sampling in London, UK. Recurrent themes were derived iteratively through thematic analysis. RESULTS: WTS is a socially acceptable activity, carried out at home or in a café. Peer influence and flavour play a key role in its use. Participants were aware of some health risks of WTS, although many accepted this risk and reported a need for more health-related WTS information. Although participants were familiar with e-shisha, there was no evidence of its use as a harm-reduction or cessation product. E-shisha tasted different to flavoured waterpipe tobacco and removed the positive social attributes typically ascribed to WTS. Waterpipe users felt e-shisha may encourage non-users to initiate cigarettes or WTS. CONCLUSION: Opinions of reduced risk in using WTS may be due to the lack of available information, misconceptions and its easy accessibility. E-shisha does not appear to play a role in WTS harm reduction or cessation. On-going research efforts should test educational interventions addressing the adverse health impacts of WTS in this population group.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Fumar/psicologia , Água , Adolescente , Feminino , Humanos , Entrevistas como Assunto , Londres , Masculino , Pesquisa Qualitativa , Nicotiana , Adulto Jovem
4.
Artigo em Inglês | MEDLINE | ID: mdl-27335642

RESUMO

Previous qualitative studies suggest a lack of maternal confidence in care of their newborn child upon discharge into the community. This observation was supported by discussion with healthcare professionals and mothers at University College London Hospital (UCLH), highlighting specific areas of concern, in particular identifying and managing common neonatal presentations. The aim of this study was to design and introduce a checklist, addressing concerns, to increase maternal confidence in care of their newborn child. Based on market research, an 8-question checklist was designed, assessing maternal confidence in: feeding, jaundice, nappy care, rashes and dry skin, umbilical cord care, choking, bowel movements, and vomiting. Mothers were assessed as per the checklist, and received a score representative of their confidence in neonatal care. Mothers were followed up with a telephone call, and were assessed after a 7-day-period. Checklist scores before as compared to after the follow-up period were analysed. This process was repeated for three study cycles, with the placement of information posters on the ward prior to the second study cycle, and the stapling of the checklist to the mother's personal child health record (PCHR) prior to the third study cycle. A total of 99 mothers on the Maternity Care Unit at UCLH were enrolled in the study, and 92 were contactable after a 7-day period. During all study cycles, a significant increase in median checklist score was observed after, as compared to before, the 7-day follow up period (p < 0.001). The median difference in checklist score from baseline was greatest for the third cycle. These results suggest that introduction of a simple checklist can be successfully utilised to improve confidence of mothers in being able to care for their newborn child. Further investigation is indicated, but this intervention has the potential for routine application in postnatal care.

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