RN&C: Ano de 2021
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- Findings in physical examination of the external genitalia In pediatric age − different is not always pathological - Part II (female)Publication . Teles-Pinto, Nuno; Morais-Costa, Diana; Marinho, Ana Sofia; Moreira-Pinto, JoãoIntroduction: Findings in the physical examination of the external genitalia in children are often a source of concern and anxiety for parents and caregivers. Due to the proximity and role in child’s periodic surveillance, the family physician is in a privileged position to identify and initially provide guidance on these situations, key for the success of future interventions. Objectives: To review available evidence on the main variations and anomalies of the external female genitalia in pediatric age, focusing on diagnosis and clinical approach in primary health care. Results: In most cases, anomalies of the prepubertal female external genitalia are only variants of normal and/or do not significantly affect function, hence not requiring intervention other than clinical surveillance – e.g., fusion of labia minora. However, others require referral to secondary health care − like congenital vaginal obstruction or clitoral hypertrophy –, with early intervention being crucial for the success of implemented measures in some cases. Conclusion: Genital pathology in prepubertal children is most often diagnosed by systematic and careful physical examination and usually has a favorable outcome. It is important to distinguish variants of normal from situations requiring more specialized assessment, in order to optimize health care system resources without overloading it and decrease parental anxiety.
- Preconceptional immunity and congenital cytomegalovirus infection – A serologic pitfallPublication . Ferreira, Joana; Fonseca, José Luís; Vieira, Maria JoãoCongenital cytomegalovirus infections are the most prevalent intrauterine infections worldwide and result from maternal primary or non-primary infections. Diagnosis of primary cytomegalovirus infection during pregnancy is considered reliable and mainly relies on maternal serology. However, diagnosis of non-primary cytomegalovirus infection is more questionable. Herein is reported the case of a 34-week-old male newborn with congenital cytomegalovirus infection of a mother with preconceptional immunity. The organism was identified in urine by polymerase chain reaction in the first week of life. Maternal peripartum serology was the same as prior to conception. This case highlights the pitfalls of cytomegalovirus serology interpretation in non-primary infection during pregnancy. Clinicians should be aware of this and consider congenital cytomegalovirus infection, particularly when suggestive signs are present.
- Dermatology clinical casePublication . Leitão, Cátia; Pereira, Isabel; Tenente, Joana; Vila-Real, Marta; Oliveira, Ana; Leite, Ana LuísaIncontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.
- Castleman disease. A rare diagnosis in childhoodPublication . Monteiro-Cunha, Sara; Vasconcelos, Sofia; Neto, Cláudia; Oliva, Tereza; Salgado, MiguelIntroduction: Castleman Disease (CD) is a rare polyclonal lymphoproliferative disorder characterized by massive growth of lymphoid tissue. The most common sites of disease are the chest, abdomen, neck, and axilla. Excisional biopsy is mandatory for diagnosis, and complete surgical resection the gold-standard treatment in unicentric CD. Case report: A ten-year-old girl was observed at the Emergency Department with sore throat and fever. Oropharynx examination revealed inflamed tonsils, with no exudates. Enlarged lymphadenopathy was palpable in the right supraclavicular fossa. Ultrasound revealed right supraclavicular lymphadenopathy with loss of adipose hilum and histopathologic assessment established CD diagnosis. Discussion/Conclusion: Lymphadenopathy is a common presentation in children, usually benign and self-limited. But it may also be a sign of underlying malignancy. Any lymphadenopathy in the supraclavicular fossa is worrisome and requires prompt investigation. CD diagnosis may be challenging, due its rare nature in childhood and nonspecific symptoms.
- Suspecting classical homocystinuria in an adolescent born before the newborn screening programPublication . Carvalho, Fábia; Campos, Teresa; Reis, Joana; Portela, Mariana; Vasconcelos, Carla; Ferreira, Carla; Cerqueira, Arnaldo; Oliveira, Ângela; Vilarinho, Laura; Leão-Teles, Elisa; Rodrigues, EsmeraldaIntroduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
- Shared decisions in neonatal intensive care − bioethical approachPublication . Carvalho, Carmen; Freitas, Ana Cristina; Pinho, Liliana; Novo, AnaTechnological and therapeutic advances in neonatal intensive care have led to a decrease in neonatal morbidity and mortality in recent decades. Along with technical and scientific expertise, it is important to provide a holistic and comprehensive approach to the care of the newborn and family. The purpose of this review is to describe and analyze strategies to improve decision-making within a shared process between health professionals and caregivers at neonatal intensive care setting. The decision-making process is not linear or immutable over time and there is no consensus on the definition of ‘shared decision’. More unanimous is the role of communication as a atherapeutic relationship pillar. Professional ethics, bioethics, and narrative medicine should be used as tools to address the vulnerabilities of families and professionals and as a way to consolidate and structure the human relational dimension intrinsic to medical practice.
- Imaging clinical casePublication . Cristina, Catarina; Serras, Inês; Santos, Ema; Alves, Rui; Serrano, DulceHirschsprung disease is the most common congenital gut motility disorder and usually diagnosed in the neonatal period. It is caused by an aganglionic bowel segment resulting in absence of intestinal peristalsis and functional obstruction. Diagnosis should be considered in all patients with constipation that does not respond to conventional treatment. Radiography and contrast enema are important diagnostic exams, but the definitive diagnosis is established through histochemical analysis of aganglionic segment biopsy. Treatment is surgical and early recognition is important to avoid complications and improve prognosis. Herein is reported the clinical case of a young infant presenting to the Pediatric Emergency Department with nausea, vomiting, constipation, refusal to feed, and important abdominal distension. Abdominal radiograph and contrast enema were compatible with Hirschsprung disease. Biopsy histochemical analysis confirmed the diagnosis and surgical treatment was performed.
- Pica and attention deficit hyperactivity disorder: is there a link?Publication . Cardoso, Daniela; Duarte, Luísa; Fonseca-Pinto, Vanessa; Cartaxo, TeresaIntroduction: Pica is the persistent ingestion of non-nutritive substances. It is common during childhood and may be related to nutritional deficits, intellectual disability, stress, and psychosis. However, no causative biological condition is identified in most cases and there is limited evidence to support pharmacological intervention. As several authors describe pica as an impulse control disorder and impulsive symptoms are a core aspect of the diagnostic criteria of attention deficit hyperactivity disorder (ADHD), this study reviews literature data on pica, ADHD, and treatment response during childhood and adolescence and adds two case reports to this body of evidence. Methods: Systematic literature review using the key terms “pica”, “attention deficit”, “hyperactivity”, “child”, and “adolescent”. A retrospective analysis of clinical data of two patients with pica and ADHD followed at the Child and Adolescent Psychiatry Department of Hospital Pediátrico was also conducted. Results: As far as the authors are aware, only three cases are currently reported in the literature describing comorbid pica and ADHD in children. Of these, two reported complete pica symptom remission after methylphenidate treatment. Two other cases of children with pica and ADHD observed at the Child and Adolescent Psychiatry Department of our institution were reported in this study, one of which had complete symptom remission after psychostimulant treatment optimization. Discussion: The suggested association between pica and ADHD may have underlying etiology in poor impulse control and dopaminergic system dysfunctions. Therefore, a pharmacological approach capable of improving dopaminergic functioning may be an alternative treatment for pica. Psychostimulants may improve pica by eliciting an increase in brain dopamine levels and a decrease in impulsivity.
- Minimally invasive surfactant therapy in preterm infants: towards less invasive managementPublication . Meireles, Daniel; Neiva-Araújo, Luísa; Nascimento, Marta; Pinho, Liliana; Freitas, Ana Cristina; Almeida, Alexandra; Carvalho, Carmen; Proença, ElisaIntroduction: Minimally invasive surfactant therapy (MIST) is a surfactant administration procedure that intends to reduce intubations and associated risks. The aim of this study was to compare MIST with INtubation-SURfactant-Extubation (INSURE) technique. Material and methods: Retrospective analysis (from January 2015 to June 2019) of preterm infants on nasal continuous positive airway pressure (nCPAP) treated with surfactant. Results: Fifty-four preterm infants were included and divided in two groups: MIST (n=34) and INSURE (n=20). No significant differences were found between groups regarding gestational age (p=0.480), birth weight (p=0.299), fraction of inspired oxygen (FiO2) prior to surfactant (p=0.220), oxygen therapy duration (p=0.306), progression to intubation (p=0.712), or length of Neonatal Intensive Care Unit stay (p=0.778). FiO2 variation before and after surfactant administration was higher in MIST group (14% vs 9%, p=0.078). No significant complications were reported with either technique. Conclusions: MIST is a safe technique in preterm infants on nCPAP. This study shows similar outcomes with MIST and INSURE procedures, with a greater reduction in FiO2 requirements with MIST. Overall, MIST is less invasive and as effective as INSURE in preterm infants.
- Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)Publication . Morais-Costa, Diana; Teles-Pinto, Nuno; Marinho, Ana Sofia; Moreira-Pinto, JoãoIntroduction: Findings in the physical examination of the external genitalia in children are often a source of concern for parents and caregivers, not only for the emotional significance that people unconsciously attribute to these structures (partly due to their reproductive function), but also for the physical and psychological impact in the child. Due to the child’s close monitoring and periodic surveillance, the family physician has a key role in the identification and initial guidance of these cases. Objectives: To review the evidence about main variations and anomalies of the external male genitalia in pediatric age regarding diagnosis and clinical approach in primary health care. Results: In most cases, anomalies in the external male genitalia represent variants of normal and/or do not significantly affect function, thus only requiring clinical surveillance and no intervention. However, some cases − as epispadias, hypospadias, and urethral duplication − require surgical intervention and early action is crucial for the success of implemented measures. Conclusion: Physical examination is a key aspect of child assessment. Although changes in physical examination of the external male genitalia mostly represent normality variants, clinicians should be able to recognize pathological changes and properly refer those cases without overloading health services or causing unnecessary anxiety to children and caregivers.