Hospital de Santa Maria
Repositório Institucional dos Hospitais da Universidade de CoimbraNot a member yet
2133 research outputs found
Sort by
Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos
No full textINTRODUCTION:
Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
OBJECTIVE:
To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children.
MATERIAL AND METHODS:
Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology.
RESULTS:
From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNA depletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defects of glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) and citrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestive sign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) was observed in 67% of the cases. The most common physical signs at admission included: hepatomegaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were: mean international normalizad ratio 4.5, median lactate 5mmol/L, mean bilirubin 201μmol/L, median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177μmol/L. One patient was submitted to liver transplant in ALF context (MSD). The mortality rate was 44%.
DISCUSSION:
The identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion.info:eu-repo/semantics/publishedVersio
Intra-articular calcaneus fractures. Classification and treatment.
No full textDisplaced, intra-articular fractures of the calcaneus represent a surgical challenge and the ideal choice of treatment remains a subject of continued debate. The posterior facet of the subtalar joint is involved in almost 90% of all intra-articular calcaneal fractures. Several studies have shown that only anatomic reconstruction of the calcaneal anatomy and meticulous restoration of joint geometry will lead to acceptable functional results.
Sanders classification is based on the amount of displaced fracture lines in the posterior facet of the subtalar joint in the coronal CT scans which has been shown to be of prognostic relevance.
Open reduction and stable internal fixation has been established as the standard treatment for most of these fractures. Good to excellent results in more than two thirds of patients in larger clinical series. Prognostic factors that can be influenced by the surgeon are anatomical reduction of the overall shape of the calcaneus and congruity of the subtalar joint
Systemic contraindications to open reduction and internal fixation include severe neurovascular insufficiency, poorly controlled insulin-dependent diabetes mellitus, non-compliance and severe systemic disorders with immunodeficiency and/or a poor overall prognosis.info:eu-repo/semantics/publishedVersio
The ups and downs of cellular stress: the “MAM hypothesis” for Bipolar Disorder pathophysiology
Get PDFinfo:eu-repo/semantics/publishedVersio
Psychiatric Hospitalizations in Young Adults: An Observational Study in 2006-2016
Get PDFinfo:eu-repo/semantics/publishedVersio
Why are Diverticula of the Rectum Uncommon? Angiomorphological Hypothesis
Get PDFinfo:eu-repo/semantics/publishedVersio
Manual de Cuidados Pós-Anestésicos II
Get PDFApós um ano, cá estamos mais uma vez, continuando o NOSSO projeto de
trabalho, com o Manual de Cuidados Pós-Anestésicos II.
Muitas coisas aconteceram neste ano, muitas dificuldades e obstáculos se
interpuseram pelo caminho, mas conseguimos superá-los e com orgulho construímos
um manual com 23 novos temas da área de Cuidados Pós-Anestésicos.
Este manual, que é a continuidade do Manual Cuidados Pós-Anestésicos I,
reúne temas de cuidados pós-operatórios mais específicos e com caráter mais
prático. Está organizado em 4 secções: o pós-operatório de procedimentos
cirúrgicos específicos, o pós-operatório de doentes com patologia específica,
complicações específicas e inerentes à anestesia e anexos.
O rigor científico foi uma preocupação no processo de elaboração deste manual.
Todos os capítulos foram submetidos a avaliação e processo de revisão
por pares (à semelhança do que aconteceu no primeiro, publicado em 2016),
sendo aceites para publicação 85% dos trabalhos submetidos.
Mais uma vez, este manual não tem a ambição de ser um compêndio, mas
sim um livro de bolso útil, prático e de leitura rápida. Esperamos que gostem!
Temos a ambição de melhorar e continuar este projeto que começa sempre com
pequenos feitos e se corrige com muitos erros que inevitavelmente surgem...
Faz parte da essência humana e só assim é que se evolui!info:eu-repo/semantics/publishedVersio
Hip disarticulation - case series analysis and literature review
No full textOBJECTIVE:
To present a retrospective study of 16 patients submitted to hip disarticulation.
METHODS:
During the period of 16 years, 16 patients who underwent hip disarticulation were identified. All of them were studied based on clinical records regarding the gender, age at surgery, disarticulation cause, postoperative complications, mortality rates and functional status after hip disarticulation.
RESULTS:
Hip disarticulation was performed electively in most cases and urgently in only three cases. The indications had the following origins: infection (n = 6), tumor (n = 6), trauma (n = 3), and ischemia (n = 2). The mean post-surgery survival was 200.5 days. The survival rates were 6875% after six months, 5625% after one year, and 50% after three years. The mortality rates were higher in disarticulations with traumatic (66.7%) and tumoral (60%) causes. Regarding the eight patients who survived, half of them ambulate with crutches and without prosthesis, 25% walk with limb prosthesis, and 25% are bedridden. Complications and mortality were higher in the cases of urgent surgery, and in those with traumatic and tumoral causes.
CONCLUSION:
Hip disarticulation is a major ablative surgery with obvious implications for limb functionality, as well as high rates of complications and mortality. However, when performed at the correct time and with proper indication, this procedure can be life-saving and can ensure the return to the home environment with a certain degree of quality of life.info:eu-repo/semantics/publishedVersio
Galactose Epimerase Deficiency: Expanding the Phenotype
No full textGalactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG). Follow-up disclosed psychomotor disability, deafness, and nuclear cataracts.Patient 2: The sibling of patient 1 was born with short limbs and hip dysplasia. She is deceased in the neonatal period due to intraventricular hemorrhage in the context of liver failure. Investigation disclosed galactosuria and normal transferrin glycosylation.Next-generation sequence panel analysis for CDG syndrome revealed the previously reported c.280G>A (p.[V94M]) homozygous mutation in the GALE gene. Enzymatic studies in erythrocytes (patient 1) and fibroblasts (patients 1 and 2) revealed markedly reduced GALE activity confirming generalized GALE deficiency. This report describes the fourth family with generalized GALE deficiency, expanding the clinical spectrum of this disorder, since major cardiac involvement has not been reported before.info:eu-repo/semantics/publishedVersio