RN&C: Ano de 2023
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- Nijmegen breakage syndrome: The importance of follow-upLeite, Sara; Lemos, Cláudia; Dias, Rita; Faria, Raquel; Marques, LauraNijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.
- Immunoglobulin A vasculitis (Henoch-Schönlein purpura) in children - A Literature ReviewSousa, Patrícia; de Oliveira, Susana Correia; Dias, Ângela; Tavares, CláudiaImmunoglobulin A vasculitis (IgAV) is a small-vessel vasculitis that primarily affects children. Major manifestations include purpuric rash, proteinuria/hematuria, arthralgia, and abdominal pain. In this article, the authors review data on the epidemiology, diagnosis, and treatment of IgAV in children. IgAV affects 10 to 56 children per 100,000 per year. The mean age at presentation is six years. Both genetic and environmental factors contribute to its pathogenesis, but the deposition of immune complexes containing abnormal glycosylated immunoglobulin (Ig) A1 plays a predominant role. The course of the disease is usually benign and supportive care is sufficient. Short-term complications are mostly related to gastrointestinal involvement, including the risk of perforation and bleeding. Long-term morbidity is due to chronic kidney disease and hypertension. Corticosteroids are not recommended for prevention of renal involvement, but may be useful as a treatment strategy, as well as more aggressive immunosuppressive drugs.
- 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?
- Serotonin selective reuptake inhibitors and suicide risk in a Portuguese adolescent sampleDuarte, Nuno; Amaral, Sarah; Abrantes, MartaBackground: The adolescent population is at high risk for depressive disorders, and suicide is a leading cause of death in this age group worldwide. Selective serotonin reuptake inhibitors (SSRIs) remain the only approved pharmacological approach, despite concerns about suicidality.Objectives: This study aimed to understand the relationship between antidepressant use and suicidality in an adolescent population from an Adolescent Psychiatric unit in Lisbon, Portugal. Methods: A total of 296 medical reports of adolescent patients with depressive symptoms in psychiatric follow-up at the considered unit were reviewed. Two demographically and clinically similar samples were obtained, one exposed to SSRI treatment and one control group. Results: A risk of suicide attempt of 0.006 was found in the group exposed to SSRIs versus 0.025 in the control group, corresponding to a relative risk of suicidality of 0.248. This difference did not reach statistical significance, despite a Bayes factor of 4.57 and a Pearson’s r of -0.078. Conclusions: The study results suggest that SSRIs do not increase the risk of suicide attempt in adolescents with depressive symptoms.
- 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.
- 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.
- Two adolescents with unilateral cutaneous lesionsMarinho, Pedro; Teixeira, Susana Cláudia; Nogueira, Miguel; Machado, SusanaThe authors report two cases of previously healthy male adolescents who presented with multiple unilateral telangiectatic macules without other associated cutaneous lesions. In one case, the telangiectasias had appeared 12 months earlier; in the other, they had been present since birth. The morphology and distribution pattern were consistent with unilateral nevoid telangiectasia, which is characterized by multiple unilateral telangiectasias arranged linearly by dermatome. The congenital form is rare, persists into adulthood, and is not associated with other vascular malformations. The acquired form resolves spontaneously after exclusion of the precipitating factor. Laser therapy is effective for unesthetic and/or persistent lesions.
- 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.
- 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.
- 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.