RN&C: Ano de 2023
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Percorrer RN&C: Ano de 2023 por Domínios Científicos e Tecnológicos (FOS) "Ciências Médicas"
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- Anaphylaxis in the Pediatric Emergency Department of a central hospitalCoelho, Cristina; Pereira, Liliana Patrícia; Santa, Cátia; Pedrosa, CláudiaAnaphylaxis is a potentially life-threatening medical emergency. Early diagnosis and treatment are crucial. In children, the diagnosis is complicated by some unique features of the pediatric population. Food is the most common etiology in pediatric patients.The aim of this study was to characterize the episodes of anaphylaxis identified in the Pediatric Emergency Department (ED) of a central hospital between 2012 and 2021 according to the 2014 EAACI guidelines. Seventy-eight anaphylaxis episodes were included, 44 of which were first episodes. Children’s median age was 9.5 years (range 6 months-17 years) and 62.8% were male. A history of atopy was present in 52.6% of cases and asthma and/or allergic rhinitis in 50.9%.The most common trigger was food (74.4%) and the most common food was milk (27.6%).Mucocutaneous manifestations occurred in 94.9%, respiratory manifestations in 80.8%, gastrointestinal manifestations in 38.5%, and cardiovascular manifestations in 21.8%.Epinephrine treatment was administered in 83.3% of episodes. Patients with an epinephrine autoinjector (EAI) used it in 52.9% of episodes. The median (range) monitoring time was 13 (3-26) hours.At discharge, EAI was prescribed in 84.1% of first episodes, and 95.5% were referred for specialty consultation.As reported in the literature, food etiology prevailed in the described anaphylaxis cases. Epinephrine was the first-line treatment in most cases. EAI was used in approximately half of patients. Despite growing awareness, it is essential to alert patients and health professionals to the importance of epinephrine in the management of these cases.
- Caffeine for preterm infants: a narrative reviewRocha, GustavoCaffeine is an adenosine receptor antagonist used to prevent or treat apnea of prematurity in the neonatal period and is now the standard of care for very low birth weight infants. Caffeine is a widely used stimulant that has been shown to reduce the duration of assisted ventilation and oxygen therapy in the short term, as well as the rate of treatment for patent ductus arteriosus and bronchopulmonary dysplasia. In the longer term, it improves expiratory airflow in children and has benefits for respiratory health. These results are due to several effects of caffeine. It stimulates the respiratory center in the brain stem and improves diaphragm contractility. In addition, caffeine protects against lung inflammation caused by lipopolysaccharide-induced pro-inflammatory amnionitis and has direct effects on pneumocytes and pulmonary angiogenesis, thereby reducing hyperoxia-induced lung injury. It also has antifibrotic activity in lung tissue. Caffeine improves survival without neurodevelopmental disability at 18 months and has demonstrated long-term safety up to 11 years of age.The present article is a non-exhaustive review of useful information about one of the most commonly used drugs in neonatal medicine.
- Childhood neglect: Another perspective on childhood obesityAzevedo, Inês Alexandra; Aguiar, Benedita Bianchi; Silva, Joana; Marques, Elizabeth; Silva, Maria José; Monteiro, Virgínia; Gomes, Lúcia; Costa, MiguelChildhood obesity is a multifactorial condition. Extreme cases are often associated with the inability of caregivers to follow the recommended diet plan, despite prior warnings of the potential risks associated of non-compliance.A seven-year-old girl with a body mass index (BMI) of 38.6 kg/m2 (z-score +7.3) and multiple comorbidities was seen in a Pediatric Nutrition outpatient consultation. After several attempts to educate her guardians about the potential risks of obesity, the girl was referred for a multidisciplinary evaluation and placed in a children’s home. With adequate nutrition and regular exercise, significant improvements were achieved in BMI (23.5 kg/m2; z-score +2.06). After three years, the girl was returned to her family home by court order, with subsequent worsening of her BMI (maximum 40.7 kg/m2; z-score +4.07), despite information provided by the medical team to social services and the court. Given that caregivers play an essential role in the prevention of childhood obesity, persistent refusal to follow therapeutic recommendations coupled with indifference in the face of red flags meets the criteria for abuse.
- Classic pertussis infection in a two-year-old child with complete primary immunizationGaspar, Mariana; Sutre, Filipe; Couto, Celina; Gavino, Alexandra; Vilarinho, Filipa; Lopes, AldinaPertussis infection, or "whooping cough," is a highly contagious but vaccine-preventable respiratory disease caused by Bordetella pertus-sis. It can affect people of all ages, but is usually more severe in young infants. Despite high vaccination coverage worldwide, this infection remains a problem. Pertussis infection is spread by aerosolized droplets and the clinical presentation can vary with age and immunity. The classic presentation includes cough paroxysms, inspiratory whoop, and post-tussive vomiting. Laboratory confirmation is not necessary for diagnosis and should not delay treatment.The authors present the case of a healthy two-year-old girl with a one-month history of dry paroxysmal cough with inspiratory whoop who was admitted to the Emergency Department for loss of consciousness during a coughing episode.This case is intended to raise awareness of severe, life-threatening pertussis infection in children with complete primary immunization who present with respiratory symptoms consistent with this infection.
- Decoding the Human GenomeRocha, Diogo Fernandes de; Rocha, Gustavo; Louro, PedroThe neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?
- Dent disease: A cause of proteinuria against all oddsRosinha, Inês; Machado, Marta; Cordinhã, Carolina; do Carmo, Carmen; Gomes, ClaraDent disease is a rare X-linked progressive renal disease characterized by hypercalciuria and low molecular weight proteinuria. In early childhood, patients may manifest only proteinuria and/or hypercalciuria, both of which are generally asymptomatic. The authors report three cases of male patients with asymptomatic, non-orthostatic nephrotic proteinuria first detected during screening for an acute condition. All had intermittent hypercalciuria, one had nephrocalcinosis, and one had mild hypotonia and some learning difficulties. Genetic testing identified pathogenic variants in all patients, two in the OCRL gene and one in the CLCN5 gene. To date, none have developed chronic kidney disease.The diagnosis of Dent disease can be challenging, but it should be considered in all men with unexplained proteinuria. This approach may not only allow for earlier diagnosis, but also avoid unnecessary testing and potentially harmful treatments.
- Dermatology clinical caseGonçalves, Vera; Costa e Silva, André; Azevedo, André; Martinho, Isabel; Martins, Sandrina; Teixeira, VeraThe authors report the case of an eight-year-old boy who presented o the Pediatric Emergency Department for severe oral mucositis, fever, purulent conjunctivitis, and skin rash. The diagnosis of Mycoplasma pneumoniae-induced rash and mucositis (MIRM) was established. Extrapulmonary complications of Mycoplasma pneumoniae infections are increasingly recognized. Over the years, patients with mucocutaneous manifestations have been misdiagnosed with erythema multiforme spectrum disease. In 2015, MIRM was proposed as a distinct clinical entity with unique pathophysiology, clinical manifestations, and prognosis.
- Feeding and eating difficulties in early childhood – Characterization of a child psychiatry consultationCarvalho e Marques, Pedro; Monteiro, Maria do Rosário; Rodrigues, Márcia; Fernandes, Graça; Martins, VâniaIntroduction: Feeding difficulties in early childhood are among the most common problems reported by parents and may reflect the child’s own characteristics or a relational problem. They are associated with problems in later life, such as behavioral disorders, cognitive deficits, and eating disorders. Materials and Methods: This study was a retrospective, descriptive analysis of sociodemographic and clinical data of children under six years of age with feeding or eating problems evaluated at a first consultation in a child psychiatry unit of a tertiary hospital between January 2019 and May 2021. Children with a diagnosis or suspected diagnosis of autism spectrum disorder were excluded. Results: Of a total of 647 children evaluated, 57 (8.81%) were classified as having feeding difficulties. Their median age was 24.5 months. Food selectivity was the most frequently reported problem (45.6%), followed by difficulties in self-regulation at mealtimes (43.9%) and decreased appetite (33.3%). Among the mothers, 21% had a history of depressive disorders and 7% had a history of anxiety disorders.Forty-nine percent of children had patterns of interaction with their primary caregiver that were considered worrisome or disruptive. Fifty-four percent of the therapeutic interventions provided were child-parent psychotherapy.Conclusions: Early identification and intervention are needed for children with feeding problems. Feeding problems are common in early childhood and a multidisciplinary approach must always be considered as they can affect several domains of the child’s health and development.
- Five years of universal newborn hearing screening: An incidence studyLeal, Bárbara; Lopes, Ana Cristina; Peixoto, Daniela; Correia, Laura; Almiro, Maria Miguel; Vilar, João; Azevedo, Maria Luísa; Bicho, Maria AdelaideIntroduction: Universal newborn hearing screening (UNHS) is an essential tool for early diagnosis and prognosis of hearing loss. The aims of this study were to estimate the incidence of sensorineural hearing loss (SNHL) in the Baixo Vouga region, to evaluate the importance of first-degree parental consanguinity (FDPC) as a risk factor for hearing loss in the UNHS program of Centro Hospitalar do Baixo Vouga (CHBV), and to determine the quality of hearing screening program and the main difficulties experienced in its implementation. Methods: Retrospective incidence study of all newborns born in a level II hospital between 2014 and 2018. According to the presence or absence of risk factors (RF) for early childhood hearing loss, each newborn was included in one of two groups: with RF and without RF. FDPC was included in addition to the recommended RF. All newborns underwent hearing screening. Those with abnormal screening or with RF also performed diagnostic audiologic evaluation.Results: Eight thousand seven hundred and twenty-seven newborns were evaluated, of whom 90.88% had no RF. The incidence rate of SNHL was 2.4/1000 infants without RF and 27.6/1000 infants with RF. Screening had an effectiveness of 99.86%, a false positive rate of 0.34%, and a referral rate to an otolaryngologist of 1.24%. FDPC was the third most common RF and the first in infants with SNHL. The missed diagnostic evaluation rate was 44.56%.Discussion: The reported incidence of SNHL is similar to that reported in the literature. The CHBV UNHS program meets national guidelines for quality screening. FDPC is an important RF in this population. The rate of missed diagnostic evaluations was identified as a priority area for improvement.
- Growing through grief. Bereavement after parental suicide in a child with autism spectrum disorder: A clinical casede LIz, Mariana Ferraz; Lopes, Ana Filipa; Antunes, Marta Pereira; Falcão, Mariana Lima; Araújo, Sara; Santos, Maria do CarmoThe impact of suicide on children remains unclear. Herein is reported the case of a seven-year-old boy who was referred for consultation for behavioral changes after witnessing his mother’s suicide. The main complaints were constant questions about death, emotional lability, and motor agitation. During bereavement-focused psychotherapy, some particularities in social functioning were noted, leading to the diagnosis of autism spectrum disorder (ASD). The bereavement process following parental suicide is modulated by several factors. Understanding these factors in the context of the particularities of the ASD population has allowed for a better understanding of the individual challenges of children that warrant specific interventions.Much remains to be understood about suicide imprinting in surviving offspring, particularly in children with ASD for whom the bereave-ment process may be overlooked.