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1.
Acta Neurochir (Wien) ; 160(5): 913-917, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29445965

RESUMO

We present a case of ophthalmic artery (OA) traumatic avulsion, leading to a post-traumatic subarachnoid hemorrhage (SAH) with ventricular blood invasion and hydrocephalus, mimicking an internal carotid aneurysm rupture. This is the third case of such an event reported in literature and the first without orbital fractures and optic nerve avulsion. Conservative treatment was sufficient for the avulsion, but surgery was needed for the coexisting eye luxation. Traumatic OA avulsion is a rare but possible event and should be suspected in case of basal cisterns SAH, evidence of orbital trauma and CT angiogram or angiographic absence of opacification of the OA.


Assuntos
Hidrocefalia/diagnóstico por imagem , Aneurisma Intracraniano/diagnóstico por imagem , Artéria Oftálmica/lesões , Hemorragia Subaracnoídea Traumática/diagnóstico por imagem , Idoso , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Humanos , Hidrocefalia/etiologia , Hidrocefalia/patologia , Aneurisma Intracraniano/etiologia , Aneurisma Intracraniano/patologia , Masculino , Hemorragia Subaracnoídea Traumática/etiologia , Hemorragia Subaracnoídea Traumática/patologia
2.
Eur J Clin Invest ; 44(4): 341-9, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24397419

RESUMO

BACKGROUND: The clinical history of heart failure (HF) is usually characterized by frequent hospitalizations for decompensation. Therefore, several markers of subclinical hemodynamic congestion are under investigation for predicting early rehospitalization. In this field, the potential of ultrasound inferior vena cava (IVC) assessment has been recently investigated in HF but not yet assessed in the different aetiological categories. MATERIAL AND METHODS: Forty-eight patients admitted for decompensated HF (n = 25 with ischaemic heart disease [IHD] and n = 23 non-IHD) underwent biochemical examination (including NT-proBNP), echocardiography and IVC assessment by hand-carried ultrasound (HCU). During 60-day follow-up after discharge, the re-hospitalization rate for HF was recorded to investigate the predictive power of NT-proBNP and IVC assessment among the two study groups. RESULTS: IHD and non-IHD patients with HF were similar except for gender distribution. During follow-up, 16·7% of patients were rehospitalized for decompensated HF, with higher prevalence in IHD group (28% vs. 4·3% P = 0·031). IVC assessment at discharge significantly predicted re-admission in the overall population and in IHD group, whereas NT-proBNP failed to predict rehospitalization in IHD group. In adjusted hazard ratio, only IVC min and the changes of IVC from admission significantly predicted re-admission. ROC analysis confirmed the change in IVC min as the best predictor of rehospitalization in patients with IHD. CONCLUSION: This pilot study showed a higher early re-admission rate in patients with HF due to IHD. In addition, the change in IVC min diameter from admission to discharge was the best predictor of re-admission in patients with IHD.


Assuntos
Insuficiência Cardíaca/diagnóstico por imagem , Isquemia Miocárdica/diagnóstico por imagem , Veia Cava Inferior/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Seguimentos , Insuficiência Cardíaca/patologia , Humanos , Masculino , Isquemia Miocárdica/patologia , Peptídeo Natriurético Encefálico/sangue , Readmissão do Paciente , Fragmentos de Peptídeos/sangue , Projetos Piloto , Ultrassonografia , Veia Cava Inferior/patologia
3.
Am J Med Genet A ; 155A(11): 2750-3, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21915987

RESUMO

Currarino syndrome (CS) is an autosomal dominant disorder of embryonic development characterized by the triad of anorectal abnormalities, partial sacral agenesis, and presacral mass. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. We report the clinical case of a 44-year-old Caucasian woman with malignant neuroendocrine transformation of a pre-sacrococcygeal mass combined with bicornuate uterus, dermoid cyst of the ovaries, and chronic constipation. After the patient died, a sacrococcygeal malformation and anterior meningocele were diagnosed in her 22-year-old son. CS diagnosis was then retrospectively confirmed by molecular analysis of normal and pathological tissue specimens of the mother, with identification of a HLXB9 mutation (c.727C>T; p.R243W). CS should be considered, and genetic counseling recommended, to all patients with presacral masses. Since malignant neuroendocrine transformation of presacral mass in CS is a possible complication, even thought rare, close follow up in these patients is advisable.


Assuntos
Carcinoma Neuroendócrino/diagnóstico , Anormalidades do Sistema Digestório/diagnóstico , Testes Genéticos , Pelve/patologia , Siringomielia/diagnóstico , Adulto , Canal Anal/anormalidades , Canal Anal/patologia , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/patologia , Constipação Intestinal/patologia , Cisto Dermoide/patologia , Anormalidades do Sistema Digestório/genética , Anormalidades do Sistema Digestório/patologia , Evolução Fatal , Feminino , Estudos de Associação Genética , Heterozigoto , Proteínas de Homeodomínio/genética , Humanos , Imageamento por Ressonância Magnética , Mutação de Sentido Incorreto , Reto/anormalidades , Reto/patologia , Sacro/anormalidades , Sacro/patologia , Siringomielia/genética , Siringomielia/patologia , Fatores de Transcrição/genética , Útero/anormalidades , Útero/patologia , População Branca/genética
4.
AJR Am J Roentgenol ; 194(3): 728-34, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20173152

RESUMO

OBJECTIVE: The purpose of this study was to study the relationship between fatty degeneration of thigh muscles and vitamin D status in elderly adults. SUBJECTS AND METHODS: For six months, 121 patients 65 years old or older were evaluated. Myopathy, muscular impairment, and conditions influencing vitamin D status other than diet and sunlight were exclusion criteria. Twenty patients (10 men and 10 women; mean age, 77.6 years) underwent MRI. Thigh muscles were scanned from the hip to the knee with T1- and T2-weighted spin-echo sequences. Skeletal muscles were evaluated for fatty degeneration and atrophy from grade 0 to 3 (grade 0 = normal appearance, grade 3 = severe changes). The relationship between muscular fatty degeneration, 25-hydroxyvitamin D (25-OHD) levels, and scores on Tinetti scales for balance and gait were examined. RESULTS: In the evaluation of the extensor muscles for fatty degeneration and atrophy, grade 0 was present in three patients (15%), grade 1 in 11 (55%), and grade 2 in six (30%). In the flexor muscles, grade 0 was found in one patient (5%), grade 1 in five (25%), and grade 2 in 14 (70%); grade 3 changes were not seen. Muscular fatty degeneration negatively correlated with 25-OHD levels (r = -0.50, p < 0.01) and the Tinetti scores (balance: r = -0.40, p < 0.05; gait: r = -0.50, p < 0.05). In 11 vitamin D-deficient patients (55%), there was selective complete atrophy of at least one thigh muscle. The gracilis and sartorius muscles were spared. CONCLUSION: In elderly adults, fatty degeneration of thigh muscles was associated with vitamin D deficiency and impaired balance and gait. Selective complete fatty degeneration of single muscles was observed.


Assuntos
Tecido Adiposo/patologia , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/patologia , Coxa da Perna , Deficiência de Vitamina D/complicações , Vitamina D/sangue , Idoso , Análise de Variância , Feminino , Marcha , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Atrofia Muscular/patologia , Equilíbrio Postural , Software , Estatísticas não Paramétricas
6.
Eur J Endocrinol ; 169(6): 767-72, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24005315

RESUMO

OBJECTIVES: Previous studies suggested that vitamin D modulates circulating IGF1. We investigated this effect in adults and its clinical relevance in the management of GH deficiency (GHD). DESIGN AND METHODS: IGF1 levels were prospectively measured before and after 12 weeks of treatment with oral vitamin D3 (5000 or 7000 IU/week) vs no intervention in 39 subjects 61.9±7.9 years old. The frequency of IGF1 values ≥50th age- and sex-specific percentile in relation to vitamin D status, as determined by the concentration of 25-hydroxyvitamin D (25(OH)D), was retrospectively assessed in 69 GHD patients (57.4±16.6 years) on stable hormone replacement and with 25(OH)D and IGF1 concurrently measured. RESULTS: Treatment with 5000 and 7000 IU vitamin D3/week significantly raised 25(OH)D by 12.7±8.4 and 13.1±6.5 ng/ml respectively (both P<0.001 vs baseline). In the 7000 IU group, IGF1 levels also significantly increased by 31.3±36.7 ng/ml (P=0.01). Neither 25(OH)D nor IGF1 significantly varied in controls. IGF1 was ≥50th percentile more frequently in GHD patients with 25(OH)D levels ≥15 than <15 ng/ml (65.9 vs 40.0%, P<0.05). Logistic regression with adjustment for recombinant human GH (rhGH) dose, vitamin D supplements, gender, use of thyroid hormones, corticosteroids or estrogen/testosterone, and season revealed a significant positive association between ≥15 ng/ml 25(OH)D and IGF1 ≥50th percentile (OR 4.4, 95% CI 1.0-18.8, P<0.05). A significant negative correlation between 25(OH)D concentrations and rhGH dose was found after correcting for age and IGF1 (ß -0.042, P<0.01), but not after further adjusting for sex, thyroid, adrenal or gonadal replacement, and season (ß -0.037, P=0.06). CONCLUSIONS: Vitamin D increases circulating IGF1 in adults. As a result, a better vitamin D status may ease the achievement of normal IGF1 values in GHD.


Assuntos
Hormônio do Crescimento Humano/sangue , Hormônio do Crescimento Humano/deficiência , Fator de Crescimento Insulin-Like I/metabolismo , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/uso terapêutico , Vitaminas/uso terapêutico , Idoso , Feminino , Terapia de Reposição Hormonal , Humanos , Itália , Modelos Lineares , Modelos Logísticos , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento , Vitamina D/administração & dosagem , Vitamina D/análogos & derivados , Vitamina D/sangue , Vitaminas/administração & dosagem , Vitaminas/sangue
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