Adolescents and School Asthma Knowledge and Attitudes

Introduction: bronchial asthma is a chronic disease that affects a high percentage of adolescents, with a significant restriction of daily activities, and is a cause of school absenteeism. The relationships between adolescents and asthma disease in school were assessed, with a view to improving knowledge about the asthmatic adolescent. Methods: a survey was conducted in the Lisbon metropolitan area, covering urban (Lisbon) and rural (Lourinh˜a ) zones and including 1879 students and 81 teachers from the 7th to 9th high school years. The study groups were asthmatic students, their peers, and teachers. A self-administered questionnaire was applied to collect information. The results were compared with a reference group of 91 asthmatic students attending our Department of Immunoallergy-Hospital Dona Estefânia. Cotinine urinary measurements were made in a sample of asthmatics and a control group. Results: the prevalence of current asthma among students was 10%. Estimates of asthma annual burden among 7th to 9th year students from Lisbon and Lourinh˜a high schools included 4,307 days missed from school, 4,148 medical consultations and a minimum of 351 hospital emergency care and 80 hospital admissions. Exposure to passive smoking was not significantly different between asthmatic students and theirs peers. Cotinine urinary measurements did not discriminate between exposed and non-exposed individuals. Cigarette smoking was almost as common among adolescent asthmatics (5.4%) as it was in non-asthmatic subjects (6.7%). However, 55% of asthmatics mentioned active and passive smoking as an asthma exacerbating factor. Asthmatic students, theirs peers and teachers showed a deficient knowledge about asthma (mean group scores: 17.6; 14.2 and 17.7 of a possible 30), particularly in the areas related to asthma recognition and its management. Asthmatics attending our Allergy Department had the highest scores. All groups showed tolerance in the sense of a positive and understanding attitude toward a person with asthma. However, traditional beliefs about asthma disease (dependence, inferiority...) were confirmed. A positive correlation between knowledge levels and tolerance attitudes was found. Conclusion: in view of the dimension of the asthma problem in adolescence and its social and economic impact, it is justifiable to assess the need for the implementation of asthma education programs in schools in order to improve asthma management by the adolescents and their schools.

Lesões Inalatórias no Doente Queimado

Inhalation injuries are currently the factor most responsible for mortality in thermally injured patients. Inhalation injuries may occur independently, but generally occur together with skin burn. Smoke inhalation affects all levels of the respiratory system and the extent of the inhalation injury depends on the duration, exposure, amount and toxicity of the fume temperature, concentration and solubility of toxic gases, the occurrence of the accident in a closed space and pre-existing diseases. Smoke inhalation also induces changes in the systemic organs with the need for more fluid for resuscitation. Systemic vasoconstriction, with an elevation in systemic vascular resistance, a fall in myocardial contractility and a great increase in lymphatic flow in soft tissue are the most important changes in systemic organs. On admission of a burn patient there is a high suspicion of inhalation injury when there are signs and symptoms such as hoarseness, strides, dyspnea, carbonaceous sputum, anxiety or disorientation, with or without face burns. The patient with these findings has partial airway obstruction and there is substantial risk complete airway obstruction occurring of secondary to the edema. Patients with suspected inhalation injury should be intubated so as to maintain airway patency and avoid a total obstruction. This group of patients frequently develop respiratory failure with the need for mechanical ventilatory support. Nosocomial infections, sepsis and multiple organ system failure may occur. Late complications of inhalation injury are tracheitis, tracheal stenosis or tracheomalacia and chronic airway disease, which is relatively rare. Early diagnosis of inhalation injury and treatment in a Burn Unit by a group of highly motivated clinicians and a good team of nurses is essential in order to decrease the morbidity and mortality related to inhalation injury.

Summer Vacations not Only a Memory for Life, but Also a Rare Infection

Introduction: Rhinoscleroma is a rare, chronic, granulomatous disease that most frequently affects the upper respiratory tract, especially the nasal cavity and sometimes extends through the lower respiratory tract. Is associated with Klebsiella rhinoscleromatis, which is endemic in certain geographic regions namely Central America. The pathogenesis and risk factors remain unclear. Clinical case: We report a five years Old Portuguese boy, previously healthy, brought to the Emergency Department with epistaxis, without other accompanying signs or symptoms. The Otorhinolaryngologist (ORL) performed rhinoscopy and identified an intranasal bleeding mass. The MRI revealed an intranasal mass with extension to the ethmoid bone sinus, and performed biopsy. The histopathology was vital, making the diagnosis of Rhinoscleroma. The child had traveled abroad for the first time on vacations a year before to Dominican Republic. The bacteriologic exam identified a Klebsiella spp. sensible to the association of amoxicillin and clavulanic acid. Blood test performed excluded association of immunodeficiency. Since it’s a rare disease genetic study are under course. Monthly evaluation by ORL and pediatrician was performed which documented progressive reduction until total disappearing of the macro and microscopic lesion, and negative bacteriologic exam. Six months of antibiotic therapy were completed without any known secondary effects. The child remained asymptomatic up to the last visit, 3 months following treatment and has shown no evidence of recurrence. Conclusion: Globalization and free transit of people to areas far from origin countries here some rare diseases are endemic brings a new challenge to modern medicine. Sometimes vacations bring more than memories.

Restrição do Crescimento Fetal - Casuística de 4 Anos

Overview and aims: Fetal growth restriction (FGR) affects 15% of pregnancies and is associated with both increased perinatal and neonatal morbidity and mortality and long-term effects in adult life. Our aim was to describe cases and outcomes of FGR from a tertiary perinatal care centre and identify the predictors of neonatal morbidity and mortality. Study design: retrospective cohort. Population: pregnancies with early or late FGR caused by placental factors followed from 2006 to 2009 in a tertiary perinatal care centre. Methods: we collected data from clinical records on demographics, clinical history and fetal ultrasound parameters. Perinatal and neonatal outcomes were stratiied according to gestational age (above or below 28 weeks) and we used bivariate analysis to identify any associations with clinical and imaging indings. Results: we included 246 pregnancies; hypertension was the most prevalent maternal risk factor (16%). There were 15 cases of early FGR, 11 of which had cesarean delivery due to deterioration of fetal Doppler parameters. Outcomes in this group included one fetal and three neonatal deaths. Of 231 cases of late FGR, 64% were delivered early given a non-reassuring fetal status i.e. due to changes in Doppler evaluation or altered Manning biophysical proile. There were four cases of perinatal death in this group, three of which delivered at 28 weeks. Neonatal morbidity was associated with lower gestational age, lower birthweight and progressive placental dysfunction (p<0.01). Conclusion: there was an association between neonatal morbidity and gestational age, birthweight and Doppler deterioration, particularly for deliveries below 28 weeks. The assessment of vascular changes through Doppler analysis allows anticipation of fetal deterioration and is a helpful tool in deciding the optimum timing of delivery.

Calciphylaxis: a Literature Review Based in Two Case Reports

Calciphylaxis is a rare and devastating obliterative vasculopathy, leading to ischemia and subcutaneous necrosis. In most cases it affects patients with renal disease and is associated with high morbidity and mortality. We present two case reports followed recently in our department, and a literature review on this topic. Case one refers to an 80 -year -old Caucasian woman with chronic kidney disease stage 5 and primary hyperparathyroidism with secondary brown tumour and calciphylaxis. Case two refers to a 59 -year -old Caucasian woman admitted with severe nephrotic syndrome associated with amyloidosis, that developed a catastrophic picture of calciphylaxis, ending in the patient’s death. There is a critical need to understand the pathogenesis of calciphylaxis. Its comprehension is the only way to improve the survival of these patients, and may help to elucidate the pathophysiology of vascular calcification in general. Educating physicians in the prevention and early detection of calciphylaxis is crucial. Only by increasing the knowledge about risk factors, pathophysiology, response to treatment and outcome, will we be able to improve prophylaxis and therapy of patients with calciphylaxis, decreasing the high mortality of this entity.

Systemic Mastocytosis - a Diagnostic Challenge

Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included.

Miocardiopatia Periparto. Paragem Cardiorespiratória Pós-Parto Complicada por Acretismo Placentar

Peripartum cardiomiopathy is a rare and life-threatening cardiac disease that affects young women previously healthy, during the peripartum period. It is a form of dilated cardiomyopathy with left-sided systolic dysfunction, which may lead to symptoms and signs of congestive heart failure. The exclusion diagnosis is based essentially on clinical presentation and initial symptoms may mimic physiologic alterations of pregnancy. The authors present a case of a 34 week multiple gestation with a growth restriction of one of the fetus and with a suspicion of a mild pre-eclampsia, motive by which we decided labour induction. During placental expulsion, in which we noticed difficulty in finding placental cleavage, the patient presented an assistoly, recovering after cardiorespiratory reanimation. However, the profuse bleeding after labour leaded to a life saving hysterectomy. Histological examination revealed placenta accreta. The echocardiography performed post-operatively diagnosed a dilated cardiomyopathy.

The Management of the Allergic Child at School: EAACI/GA2LEN Task Force on the Allergic Child at School

Allergy affects at least one-quarter of European schoolchildren, it reduces quality of life and may impair school performance; there is a risk of severe reactions and, in rare cases, death. Allergy is a multi-system disorder, and children often have several co-existing diseases, i.e. allergic rhinitis, asthma, eczema and food allergy. Severe food allergy reactions may occur for the first time at school, and overall 20% of food allergy reactions occur in schools. Up to two-thirds of schools have at least one child at risk of anaphylaxis but many are poorly prepared. A cooperative partnership between doctors, community and school nurses, school staff, parents and the child is necessary to ensure allergic children are protected. Schools and doctors should adopt a comprehensive approach to allergy training, ensuring that all staff can prevent, recognize and initiate treatment of allergic reactions.

Novel FGFR1 Mutations in Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism: Evidence for the Involvement of an Alternatively Spliced Isoform

OBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patients were screened for mutations in FGFR1. The functional consequences of mutations were predicted by in silico structural and conservation analysis. RESULT(S): Heterozygous FGFR1 mutations were identified in six (12%) kindreds. These consisted of frameshift mutations (p.Pro33-Alafs*17 and p.Tyr654*) and missense mutations in the signal peptide (p.Trp4Cys), in the D1 extracellular domain (p.Ser96Cys) and in the cytoplasmic tyrosine kinase domain (p.Met719Val). A missense mutation was identified in the alternatively spliced exon 8A (p.Ala353Thr) that exclusively affects the D3 extracellular domain of FGFR1 isoform IIIb. Structure-based and sequence-based prediction methods and the absence of these variants in 200 normal controls were all consistent with a critical role for the mutations in the activity of the receptor. Oligogenic inheritance (FGFR1/CHD7/PROKR2) was found in one patient. CONCLUSION(S): Two FGFR1 isoforms, IIIb and IIIc, result from alternative splicing of exons 8A and 8B, respectively. Loss-of-function of isoform IIIc is a cause of IHH, whereas isoform IIIb is thought to be redundant. Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms.