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2.
BMJ Case Rep ; 17(1)2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38195193

RESUMO

We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.


Assuntos
Exoftalmia , Microftalmia , Neoplasias Orbitárias , Vítreo Primário Hiperplásico Persistente , Tumor Rabdoide , Humanos , Diagnóstico Diferencial , Exoftalmia/etiologia , Hifema , Neoplasias Orbitárias/diagnóstico , Tumor Rabdoide/diagnóstico , Lactente
3.
Eur J Paediatr Neurol ; 33: 106-111, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34133990

RESUMO

Incontinentia Pigmenti (IP) is a neurocutaneous syndrome, with malformations of cortical development and neurodevelopmental delay in some patients. Neonates with IP may develop acute encephalopathy with multifocal ischemic brain lesions with a speckled pattern on diffusion-weighted magnetic resonance imaging (MRI). We observed a similar MRI pattern in 4 female patients with IP who presented with childhood acute encephalopathy syndromes. These patients, aged 9 days to 13 years old, had acute neonatal encephalitis, Influenza A virus related acute necrotizing encephalopathy (ANE) of childhood, Influenza B virus related acute encephalopathy with biphasic seizures and late restricted diffusion (AESD) and acute disseminated encephalitis (ADEM) with transverse myelitis (TM). These lesions could possibly reflect the white matter changes in IP patients with encephalopathy.


Assuntos
Encefalopatias , Incontinência Pigmentar , Adolescente , Encéfalo/diagnóstico por imagem , Encefalopatias/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Incontinência Pigmentar/complicações , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Convulsões
4.
BMJ Case Rep ; 20182018 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-29437734

RESUMO

The familial occurrence of multiple-level intestinal atresia in newborn is extremely uncommon, with very sporadic similar cases reported in the literature. We present a case of multiple intestinal atresia in two consecutive siblings who successfully underwent surgical repair.


Assuntos
Anastomose Cirúrgica , Atresia Intestinal/cirurgia , Intestino Delgado/anormalidades , Jejunostomia , Laparotomia , Nutrição Enteral , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Atresia Intestinal/diagnóstico por imagem , Masculino , Poli-Hidrâmnios , Gravidez , Irmãos , Resultado do Tratamento
5.
Front Immunol ; 5: 507, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25431572

RESUMO

OBJECTIVES: To investigate changing nutritional demographics of treated HIV-1-infected patients and explore causes of obesity, particularly in women of African origin. METHODS: We prospectively reviewed nutritional demographics of clinic attenders at an urban European HIV clinic during four one-month periods at three-yearly intervals (2001, 2004, 2007, and 2010) and in two consecutive whole-year reviews (2010-2011 and 2011-2012). Risk-factors for obesity were assessed by multiple linear regression. A sub-study of 50 HIV-positive African female patients investigated body-size/shape perception using numerical, verbal, and pictorial cues. RESULTS: We found a dramatic rise in the prevalence of obesity (BMI > 30 kg/m(2)), from 8.5 (2001) to 28% (2011-2012) for all clinic attenders, of whom 86% were on antiretroviral treatment. Women of African origin were most affected, 49% being obese, with a further 32% overweight (BMI 25-30 kg/m(2)) in 2012. Clinical factors strongly associated with obesity included female gender, black African ethnicity, non-smoking, age, and CD4 count (all P < 0.001); greater duration of cART did not predict obesity. Individual weight-time trends mostly showed slow long-term progressive weight gain. Investigating body-weight perception, we found that weight and adiposity were underestimated by obese subjects, who showed a greater disparity between perceived and actual adiposity (P < 0.001). Obese subjects targeted more obese target "ideal" body shapes (P < 0.01), but were less satisfied with their body shape overall (P = 0.02). CONCLUSION: Seropositive African women on antiretroviral treatment are at heightened risk of obesity. Although multifactorial, body-weight perception represents a potential target for intervention.

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