4940 research outputs found
Sort by
Do GnRH Agonists Really Increase Body Weight Gain? Evaluation of a Multicentric Portuguese Cohort of Patients With Central Precocious Puberty
No full textIntroduction: There are several concerns associated with gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP), such as obesity and changes in body mass index (BMI). We aimed to investigate whether any anthropometric differences exist and if they persist over time.
Methods: We conducted an observational study of Portuguese children (both sexes) diagnosed with CPP between January 2000 and December 2017, using a digital platform, in order to analyze the influence of GnRHa treatment on BMI-SD score (BMI-SDS).
Results: Of the 241 patients diagnosed with CPP, we assessed 92 patients (8% boys) in this study. At baseline, 39% of the patients were overweight. BMI-SDS increased with treatment for girls but then diminished 1 year after stopping GnRHa therapy (p = 0.018). BMI-SDS variation at the end of treatment was negatively correlated with BMI-SDS at baseline (p < 0.001). Boys grew taller and faster during treatment than did girls (p < 0.001), and therefore, their BMI-SDS trajectory might be different.
Conclusions: This study showed an increase of body weight gain during GnRHa treatment only in girls, which reversed just 1 year after stopping treatment. The overall gain in BMI-SDS with treatment is associated with baseline BMI-SDS.info:eu-repo/semantics/publishedVersio
Avaliação Retrospetiva da Reconstrução Oncológica da Cabeça e Pescoço com 114 Retalhos Livres num Centro Oncológico Terciário Português
No full textIntroduction: The Portuguese experience in microsurgical reconstruction of the head and neck after oncological surgery is scantly described. The primary aim of this study was to characterize the use of microvascular reconstruction after head and neck tumor resection in a Portuguese tertiary oncological centerMaterial and Methods: The authors retrospectively evaluated 114 microvascular free flap procedures performed for head and neck reconstruction after oncological resection in a department of Head and Neck Surgery of a Portuguese tertiary oncological center. Patients were operated on from January 2012 to May 2018. Data on patient demographic features, tumour characteristics, perioperative complications, postoperative aesthetic and functional results, survival time and time to recurrence were extracted.
Results: Most tumours mandating microsurgical reconstruction were mucosal squamous cell carcinomas (85%) and were located in the oral region (95.6%). Around 45% of the patients had a T4a tumour and 30% a T2 tumour. Cervical metastases were present in 45.6% of the cases. The radial forearm flap and the fibular flap were the most commonly used microsurgical reconstructive options (58% and 41%, respectively). More than 80% of patients had no post-operative complications. Partial necrosis of the flap occurred in 6.1% of patients, while total flap necrosis occurred in 3.5% of cases. Aesthetic and functional results were considered at least satisfactory in all patients in which the flaps survived.
Discussion: This study is by far the largest series of microsurgical head and neck reconstruction after oncological surgery reported by a single tertiary centre in Portugal. Survival and functional benefits are similar to those reported in other large oncological centres in the world.
Conclusion: Microvascular reconstruction seems like a reliable treatment option in head and neck oncological surgery at our institution.info:eu-repo/semantics/publishedVersio
Code of Practice for Medical Autopsies: a Minimum Standard Position Paper for Pathology Departments Performing Medical (Hospital) Autopsies in Adults
No full textThe medical autopsy (also called hospital or clinical autopsy) is a highly specialised medical procedure, which requires professional expertise and suitably equipped facilities. To ensure high standards of performance, the Working Group of Autopsy Pathology of the European Society of Pathology (ESP) suggests a code of practice as a minimum standard for centres performing medical autopsies. The proposed standards exclusively address autopsies in adults, and not forensic autopsies, perinatal/or paediatric examinations. Minimum standards for organisation, standard of premises, and staffing conditions, as well as minimum requirements for level of expertise of the postmortem performing specialists, documentation, and turnaround times of the medical procedure, are presented. Medical autopsies should be performed by specialists in pathology, or by trainees under the supervision of such specialists. To maintain the required level of expertise, autopsies should be performed regularly and in a number that ensures the maintenance of good practice of all participating physicians. A minimum number of autopsies per dedicated pathologist in a centre should be at least 50, or as an average, at least one autopsy per working week. Forensic autopsies, but not paediatric/perinatal autopsies may be included in this number. Turnaround time for final reports should not exceed 3 weeks (14 working days) for autopsies without fixation of brain/spinal cord or other time-consuming additional examinations, and 6 weeks (30 working days) for those with fixation of brain/spinal cord or additional examinations.info:eu-repo/semantics/publishedVersio
A Novel Variant of DeSanto-Shinawi Syndrome with Joint Manifestations
No full textvariable degrees of developmental delay and intellectual disability that were recently delineated as DeSanto-
Shinawi syndrome (OMIM 616708). We describe a patient with DeSanto-Shinawi syndrome caused by a novel
frameshift variant in WAC gene (NM_016628.4(WAC):c.1689del (p.Phe563Leufs*6)). As noted in cases previously reported, our patient phenotype included facial dysmorphism, intellectual disability, behavioral problems, feeding difficulties, hirsutism, constipation and astigmatism. She also had limited range of motion of joints since birth and Juvenile Idiopathic Arthritis diagnosed at eleven years old. Although in the last years some additional features were reported in DeSanto-Shinawi syndrome, joint manifestations have not been previously described. As limited range of motion of joints was reported since birth with no correlation with arthritis onset, it could be a new clinical feature. Polyarthritis in this patient can be only a coincidence, since there is a first degree relative with psoriasis, or might be related to WAC mutation. Indeed, WAC encodes a protein that plays a vital role in autophagy. It has already been demonstrated that WAC haploinsufficiency leads to increased autophagy and, according to different authors, increased autophagy may display a pathogenic role in several autoimmune disorders such as Rheumatoid Arthritis and Juvenile Idiopathic Arthritis. Thus, WAC haploinsufficiency may have contributed to autoimmune disorder in this patient.info:eu-repo/semantics/publishedVersio
Rehabilitation of a Child with Neonatal Brachial Plexus Palsy: Case Report Described by Parents
No full textThis paper presents a case report of a child with Neonatal Brachial Plexus Palsy on the right arm, with C5, C6, and C7 nerve injuries. The symptoms presented at birth and at the time of diagnosis were absence of movement in the right arm but with mobility of the fingers; internal rotation of the injured limb with elbow extension; active flexion of the wrist and fingers; and ulnar deviation of the hand. The rehabilitation plan followed the conservative approach and included different intervention strategies (passive and active mobilisation, kinesio tape, use of splints, bimanual stimulation, etc.) carried out by the occupational therapist and the physical therapist. The rehabilitation allowed the child to have a functional limb for daily activities, with bimanual motor integration and coordination; passive and active range of motion in the different joints except for pronation, sensibility, and maintained strength. In conclusion, it can be said that this case report describes a set of rehabilitation strategies that were used in the conservative treatment of a child with NBPP and the functional gains they allowed. Early intervention, parental involvement in the rehabilitation process, and continuous follow-up of the child favoured the prognosis and allowed the prevention of functional sequelae of the limb.info:eu-repo/semantics/publishedVersio
Adolescent Pregnancy: A Case-Series Study of 112 Adolescent Mothers and Their Newborns
No full textBackground Although declining, adolescent pregnancy remains an important health concern and is associated with adverse maternal and fetal outcomes. We aimed to characterize adolescent pregnancy in a level II hospital and the observed maternal, fetal, and perinatal complications. Methods We conducted a case-series study of five-years duration with adolescent mothers and their newborns. We collected sociodemographic, obstetric, and neonatal data through chart review and conducted a comparison analysis between newborns who needed hospitalization and those who did not. Results We identified 112 newborns with adolescent mothers. Most pregnancies were unplanned (89.3%) and the start of pregnancy surveillance was late. The most frequent complications were intrauterine growth restriction, oligohydramnios, and threatened preterm labor. Prematurity was found in 9.8% of the newborns and 0.9% had less than 32 weeks at the time of birth. Thirteen newborns (11.6%) needed hospitalization in the neonatal intensive care unit, with three (23%) needing invasive ventilation. The main diagnoses of admission were prematurity, social risk, low birth weight, feeding difficulties, and newborn respiratory distress syndrome. Hospitalization seemed associated with less frequent breastfeeding. Among the hospitalized newborns, there was a high rate of discharge at the care of a relative or an institution (30.8%). Surprisingly, surveillance during pregnancy did not seem to differ between newborns that needed hospitalization and those that did not. Discussion Adolescent pregnancy is associated with poor surveillance as well as obstetric and neonatal complications. Newborns of adolescent mothers have a high hospitalization rate, but further investigations are needed to fully understand the contributing factors. The creation of multidisciplinary teams is fundamental for reducing complications, and appropriate reproductive health programs should focus on reducing adolescent pregnancy through better access to education and contraception.info:eu-repo/semantics/publishedVersio
Acute Haematogenous Osteomyelitis in Lisbon: An Unexpectedly High Association with Myositis and Arthritis
No full textIntroduction: Despite the current trend toward less aggressive therapeutic approaches, acute haematogenous osteomyelitis (AHO) continues to be a challenge and is associated with significant morbidity worldwide. Our aim was to assess whether compliance with the current protocol was achieved in 80% of cases, to identify complications and the associated risk factors, and to analyse trends in the aetiology and management of AHO in the paediatric population.
Methods: We conducted a longitudinal, observational, single-centre study in patients with AHO aged less than 18 years admitted to a paediatric hospital between 2008 and 2018 divided in 2 cohorts (before and after 2014). We analysed data concerning demographic and clinical characteristics and outcomes.
Results: The study included 71 children with AHO, 56% male, with a median age of 3 years (interquartile range, 1-11). We found a 1.8-fold increase of cases in the last 5 years. The causative agent was identified in 37% of cases: MSSA (54%), MRSA (4%), S. pyogenes (19%), K. kingae (12%), S. pneumoniae (8%), and N. meningitidis (4%). Complications were identified in 45% of patients and sequelae in 3.6%. In recent years, there was an increase in myositis (30% vs 7%; P=.02), septic arthritis (68 vs 37.2%; p=0.012) and in the proportion of patients treated for less than 4 weeks (37 vs 3.5%; p=0.012), with a similar sequelae rates. The risk factors associated with complications were age 3 or more years, C-reactive protein levels of 20mg/L or higher, time elapsed between onset and admission of 5 or more days and positive culture, although the only factor that continued to be significantly associated in the multivariate analysis was positive culture. The presence of complications was a risk factor for sequelae at 6 months.
Conclusions: Our study confirms that AHO can be aggressive. The identification of risk factors for complications is essential for management.info:eu-repo/semantics/publishedVersio
COVID-19 Infection Triggered Juvenile Systemic Lupus Erythematosus-Like Disease
No full textinfo:eu-repo/semantics/publishedVersio
Poluição do Ar e Doenças Cardiovasculares: Documento de Posição
No full textAir pollution is one of the main environmental risk factors for health and is linked to cardiovascular diseases, which are the leading cause of mortality worldwide. In this position paper, we discuss the main air pollutants and how they can promote the development of cardiovascular disease or cardiovascular events. We also summarise the main evidence supporting the association between air pollution and cardiovascular events, such as coronary events (acute coronary syndromes/myocardial infarction; chronic coronary syndromes), stroke, heart failure and mortality. Some recommendations are made based on these data and the European Society of Cardiology guidelines on cardiovascular disease prevention, acknowledging that it is important to increase awareness and literacy on this topic in Portugal.info:eu-repo/semantics/publishedVersio
Síndrome Inflamatória Multissistémica em Crianças Associada a COVID-19 num Hospital de Nível III em Portugal
No full textIntroduction: Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe manifestation of coronavirus disease 2019 (COVID-19). The aim of this study was to describe the characteristics of children with MIS-C admitted to a pediatric tertiary hospital in Portugal.
Material and methods: Observational descriptive study of MIS-C patients admitted between April 2020 and April 2021. Demographic and clinical characteristics, diagnostic tests, and treatment data were collected. The diagnosis of MIS-C was based on the World Health Organization and Centers for Disease Control and Prevention criteria.
Results: We reported 45 children with MIS-C. The median age was seven years (IQR 4 - 10 years) and 60.0% were previously healthy. SARS-CoV-2 infection was confirmed in 77.8% by RT-PCR or antibody testing for SARS-CoV-2, and in 73.3%, an epidemiological link was confirmed. All the patients had a fever and organ system involvement: hematologic (100%), cardiovascular (97.8%), gastrointestinal (97.8%), mucocutaneous (86.7%), respiratory (26.7%), neurologic (15.6%), and renal (13.3%) system. Neurological (p = 0.035) and respiratory (p = 0.035) involvement were observed in patients with a more severe presentation. There was a significant difference of medians when comparing disease severity groups, namely in the values of hemoglobin (p = 0.015), lymphocytes (p = 0.030), D-dimer (p = 0.019), albumin (p < 0.001), NT-proBNP (p = 0.005), ferritin (p = 0.048), CRP (p = 0.006), procalcitonin (p = 0.005) and IL-6 (p = 0.002). From the total number of children, 93.3% received intravenous immunoglobulin, 91.1% methylprednisolone, and one patient (2.2%) received anakinra. Thirteen patients (28.8%) required intensive care and there were no deaths. Of the 21 patients evaluated, 90.4% had reduction of exercise capacity and of the 15 patients who underwent cardiac magnetic resonance, 53.3% had sequelae of cardiac injury.
Conclusion: We observed a large spectrum of disease presentation in a group of patients where most were previously healthy. A small percentage of patients (28.9%) had a severe presentation of the disease. MIS-C is a challenge in current clinical practice and its diagnosis requires a high level of clinical suspicion as the timely initiation of therapy is essential to prevent complications. However, there is no scientific consensus on the treatment and follow-up of these patients.info:eu-repo/semantics/publishedVersio