Ahead of Print

  • Deleção Parcial do Gene CUL4B: Relato de Caso

    Partial Deletion in CUL4B Gene: A Case Report

    João Mário Marques, Gisela Pereira Pinto

    Disturbances in intellectual development cause great morbidity and pose a demanding challenge in the dimensions of the individual, family, and community. CUL4B is a gene involved in several cellular processes and in the control of the cell cycle. Mutations in this are associated with changes such as intellectual disability, macrocephaly, and dysmorphia, among others.
    The reported case refers to a 12-year-old girl, with early identification of dysmorphia (elongated face with bitemporal narrowing and long forehead, deep-set eyes, large mouth, low-set ear pinna and indentations on the earlobe, nose with a hooked-looking tip) and delays in intellectual and psychomotor development, having identified, after genetic study, a rare disease associated with the X chromosome (deletion in Xq24 partially involving the gene CUL4B). Given its association with the X chromosome, this pathology is rare in females and its approach requires a multidisciplinary team and efficient coordination between health services. Analyzing this case, we can infer the importance of General and Family Medicine, given its characteristics and skills, in its management.

    Date: 2024-05-29
  • Fenómeno Harlequin: um Recém-Nascido com Duas cores

    Harlequin Phenomenon: a Newborn with Two Colours

    Gustavo Teixeira, Mariana Domingues, Diana Simão Raimundo, Ana Laura Esteves
    Date: 2024-05-07
  • Efeitos do Uso de Chupeta no Sucesso e Duração da Amamentação

    Effects of Pacifier Use on the Success and Duration of Breastfeeding

    João Nunes Sousa, Raquel Peixoto, Maria Inês Ferreira

    Pacifiers are an integral part of homes around the world, when a newborn is present. Its use has become a culturally rooted habit, followed by most parents/caregivers, but fears have arisen that the use of this object could have a negative influence on the success of breastfeeding.
    This review article presents the most recent results from the literature on the influence of pacifiers on breastfeeding, addressing the importance of breastfeeding and the main advantages and disadvantages of pacifier use. Observational studies show a possible correlation between pacifier use and breastfeeding failure, but this association has not been confirmed in more robust studies such as randomized clinical trials.
    In view of the scientific evidence presented, the authors consider that pacifier should be used, if that is the parents’ will, making a shared and informed decision.

    Date: 2024-05-07
  • Incumprimento Terapêutico: O Grande Fator de Risco

    Non-Adherence to Treatment: The Great Risk Factor

    Dina Isabel Campos

    Non-adherence to treatment it is quite common and underestimated in an increasingly aging population and hand in hand with multimorbidity, compromising outcomes and increasing healthcare costs. Adherence is a dynamic process simultaneously influenced by multiple factors, related or not to the patient, that must be considered before and after prescription and subject to continuous monitoring over time. Addressing these factors and adapting them individually, with reinforcement of intrinsic motivation and involvement of the patient in the therapeutic strategy can be one of the most effective measures in combating chronic diseases and, consequently, improving health outcomes.

    Date: 2024-05-07
  • Dilemas Éticos no Idoso em Cuidados Paliativos

    Ethical Dilemmas in the Elderly in Palliative Care

    Gonçalo Soares
    Date: 2024-03-04
  • Hipocalcemia Sintomática Tardia: Um Relato de Caso

    Late Symptomatic Hypocalcemia: A Case Report

    Sofia Machado, Jéssica Tavares

    Secondary hypoparathyroidism is a possible consequence after total thyroidectomy. This leads to the risk of hypocalcemia and the consequent associated symptoms that fluctuate from mild cases such as paresthesias and cramps, to severe cases such as laryngospasm or arrhythmias. Usually, the symptoms appear in the post-operative period, and its late manifestation is not frequent.
    We present a case of an 86-year-old patient with a history of thyroid dysfunction, with a presentation of late hypocalcemia, whose motor manifestations triggered etiological investigation and subsequent articulation with secondary health care.
    When faced with a patient with suspected hypocalcemia, it is important to perform a complete physical examination, along with an analytical study and subsequent ion replacement. In acute situations, the patient should be evaluated in a hospital emergency room. Due to the longitudinally of care, the family physician is responsible
    for clinical suspicion and management of late presentations of uncommon clinical cases.

    Date: 2024-02-21
  • Um Caso Bicudo: Um Relato sobre um Pneumotórax

    A Sharp Case: A Report of a Pneumothorax

    Pedro Pereira, Iolanda Silva, Joana Alves, Mélanie Magalhães, Inês Francisco, Lídia Gomes

    Acupuncture is a therapy that is over 2000 years old, having recently become popular as a practice in Western culture. This therapy consists of inserting fine needles to alleviate symptoms such as pain or nausea. This article focuses on a pneumothorax secondary to acupuncture case. A 20-year-old man came to the Emergency Department with pleuritic pain in the right scapular region. The pain appeared after an acupuncture session performed for low back pain. On physical examination, a eupneic patient was observed, but with some difficulty in completing sentences, with O2 saturation of 98% in room air, with a slight decrease in vesicular murmur on auscultation of the upper right hemithorax and hypertympanism on percussion of the same area, with notorious pain facies, pain on right intercostal palpation and two dorsal punctiform wounds compatible with the insertion of needles.
    Chest X-ray revealed a right pneumothorax, so a chest drain was placed. After resolution, the user was discharged with indication for control in primary health care.

    Date: 2023-11-10
  • Montelucaste e Eventos Neuropsiquiátricos em Idade Pediátrica: Qual a Evidência?

    Montelukast and Neuropsychiatric Events in Children: What is the Evidence?

    Raquel Lima, Mafalda Sá Moreira, Leonor Rocha, João Nuno Carneiro, José Miguel Azevedo

    Childhood asthma is a prevalent chronic illness, and the medication montelukast is frequently used as treatment. However, this drug has been linked to neuropsychiatric events that have potentially fatal outcomes. The objective of this review paper was to evaluate the available evidence on this association between montelukast and neuropsychiatric events in children. From an analysis of 17 articles and 1 clinical guidance standard identified by a bibliographic search method, only 5 fulfilled the previously defined inclusion criteria. These selected studies provide support for the existence of possible occurrences of montelukast-induced neuropsychiatric symptoms among asthmatic pediatric patients administered with the medication. Therefore, healthcare providers need to be informed about these risks while making prescribing decisions for young patients who are taking montelukast or undergoing follow-up care subsequently. More multicenter studies are needed, with robust samples, longer follow-up period and well-defined methodology, to clarify the association of montelukast with neuropsychiatric events in children.

    Date: 2023-11-08