A5037149614- Protease and Inhibitor Mechanisms
- Metabolism and Genetic Disorders
- Peptidase Inhibition and Analysis
- Neonatal Health and Biochemistry
- Pneumonia and Respiratory Infections
- Emergency and Acute Care Studies
- Nosocomial Infections in ICU
- Streptococcal Infections and Treatments
- Male Reproductive Health Studies
- Transplantation: Methods and Outcomes
- Platelet Disorders and Treatments
- Helicobacter pylori-related gastroenterology studies
- Sleep and Wakefulness Research
- Actinomycetales infections and treatment
- Pulmonary Hypertension Research and Treatments
- Amoebic Infections and Treatments
- Salivary Gland Tumors Diagnosis and Treatment
- Diet and metabolism studies
- Restless Legs Syndrome Research
- Hydrogen's biological and therapeutic effects
- Vitamin D Research Studies
- Oral and gingival health research
- Tuberculosis Research and Epidemiology
- Neonatal and Maternal Infections
- Infective Endocarditis Diagnosis and Management
University of Coimbra
2024
Centro Hospitalar do Porto
2024
Hospitais da Universidade de Coimbra
2011-2023
Celulose Beira Industrial (Portugal)
2015
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It one of the most prevalent disorders, although it remains underdiagnosed. Whereas at international level there are several areas consensus on this disorder, Portugal, inter-hospital heterogeneity clinical practice and resources available have been adding difficulties reaching diagnosis making therapeutic decisions group patients. This raised need to draft document...
Diet is currently recognized as a major modifiable agent of human health. In particular, dietary nitrate has been increasingly explored strategy to modulate different physiological mechanisms with demonstrated benefits in multiple organs, including gastrointestinal, cardiovascular, metabolic, and endocrine systems. An intriguing exception this scenario the brain, for which evidence remains controversial. Upon consumption, can undergo sequential reduction reactions vivo produce nitric oxide...
Acute neonatal parotitis (ANP) is a rare condition, characterised by parotid swelling and other local inflammatory signs. The most common pathogen Staphylococcus aureus, but organisms can be implicated. We describe the case of 13-day-old term newborn, previously healthy, with late-onset group B Streptococcus (GBS) bacteraemia ANP, who presented irritability, reduced feeding tender right parotid. Laboratory evaluation showed neutrophilia, elevated C reactive protein procalcitonin, normal...
Galactose 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 a dysmorphic syndrome. Failure thrive noticed during year. Episodes heart failure dilated cardiomyopathy, followed by liver failure, occurred between 12 42 months. finding serum transferrin isoelectrofocusing...
Narcolepsy, a chronic disorder of the sleep-wake cycle multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion therapeutic approach are essential for promotion cognitive development social integration these children. The authors present descriptive retrospective study series eight children in whom symptoms first started between 6.8 10.5 years age....
Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with poor prognosis. Early intervention may be lifesaving. To describe clinical presentation, investigation and outcomes of ALF related IMD in young children. Retrospective review the medical records children aged up 24 months, admitted tertiary pediatric neonatal Intensive Care Unit during 27-year period, fulfilling criteria, documented etiology. From 34 cases, 18 were IMD:...
El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Describir la presentación clínica, investigación y evolución FHA asociado EMH en niños pequeños. Estudio retrospectivo realizado unidad terciaria cuidados intensivos neonatales pediátricos, por un período 27 años. Se analizaron los registros médicos todos hasta 2 años edad, hospitalizados con etiología...
Bone fractures are not uncommon in paediatric age. However, when recurrent, an underlying clinical condition must be excluded. We describe the case of a boy aged 7 years, referred for investigation recurrent bone fractures. Personal and family histories were unremarkable. Physical examination was normal. Almost all primary disorders Additional laboratory investigations ruled out majority secondary causes fragility. Coeliac disease (CD) serologies, however, positive, duodenal biopsies...
A Pneumonia associada a cuidados de saúde (PACS) está identificada como uma entidade única que difere da pneumonia adquirida na comunidade (PAC) e que, em muitos aspectos, se assemelha à nosocomial (PN). Os autores apresentam um estudo retrospectivo, inclui doentes internados no Serviço Pneumologia do Centro Hospitalar Coimbra com o diagnóstico PAC PACS, durante período ano, cujo objectivo foi comparar as características abordagem destas duas entidades. Foram incluídos 197 pacientes, 144 53...
Seizures are the most common neurological disorder in pediatrics, and their initial approach aims at clinical stabilization. A thorough patient evaluation may provide important clues for etiological diagnosis. 12-month-old female child was observed emergency department after experiencing her first apyretic seizure. She had a history of congenital alopecia and, on physical examination, presented subtotal milia. Initial investigation revealed hypocalcemia; therefore, intravenous calcium...
A incontinência urinária (IU) é uma condição comum entre mulheres, especialmente aquelas que pratica esporte de alto impacto como o Crossfit, afetando 25% a 45% das mulheres acima 30 anos. Os objetivos foram em analisar material disponível na literatura sobre prevalência da praticam CrossFit, também identificar os principais fatores risco associados. Foi realizada revisão integrativa literatura, com foco artigos publicados nos últimos dez anos nas bases dados Scientific Electronic Library...
Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 (also known as proteinase inhibitor) and predisposes affected individuals to early onset lung liver disease. There currently no cure for deficiency. However, appropriate treatment a high standard clinical care can prevent patients from being seriously having undergo major medical interventions, such organ transplantation. Beyond managing the symptoms...
A 6-month-old female infant was referred with a 3-day history of low-grade fever, slight nasal congestion and rhinorrhoea. On admission, the clinical findings were unremarkable she discharged home. However, became progressively more listless decreased urine output once again seen in emergency department. Analytically found to have metabolic acidosis, hyperkalaemia, thrombocytopaenia, anaemia schistocytes peripheral blood smear. Based on these findings, diagnosis haemolyticâ-uremic syndrome...
We describe the clinical evolution of first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by rare null allele (Q0Ourém), over past 18 years. highlight course disease as well pulmonary function tests from initial diagnosis and benefits augmentation therapy for this specific condition. report case 43-year-old man exertion dyspnoea who was observed in our pulmonology unit. The unexpected findings complementary examinations led us to diagnose AAT discovery new mutation...
Abstract BACKGROUNG: Community-acquired pneumonia (CAP) is one of the most frequent causes hospital admission and it associated with acute cardiac events. The goal was to assess incidence, risk factors impact events on stay mortality in patients hospitalized due CAP 2018. METHODS: Cardiac complications were defined as: new or worsening heart failure, arrhythmia, myocardial infarction. Statistical analysis performed using SPSS. Factors a univariate significance level p < 0.10 included...
A 15-year-old boy was admitted to a local hospital with high fever, generalised rash and mild sore throat. He started on intravenous flucloxacillin 12 hours later develops sustained low diastolic blood pressure (DBP), unresponsive fluid volume expansion cardiovascular support dopamine. Intravenous clindamycin added transportation paediatric intensive care unit arranged. Dopamine dosing increased norepinephrine infusion subsequently immediate stabilisation of DBP. sacrococcygeal pilonidal...
<b>Introductions:</b> Intravenous Alpha<sub>1</sub> antitrypsin (AAT) replacement therapy is licenced for administration at a weekly dose of 60 mg/kg, regimen that inconvenient and costly to patients. In order improve patient convenience, biweekly doses 120 mg/kg can be administered. Pharmacokinetic studies have shown this feasible but there are no showing its effect on disease progression. <b>Aims:</b> The goal case series evaluate progression nine patients AAT therapy. <b>Methods:</b> Data...