Nederlands tijdschrift voor geneeskunde最新文献

Objective: The death of a child is (one of) the most devastating life events for parents. A natural order of life is that children outlive their parents. In the Netherlands, parents can choose for investigation into the cause of death using the standardized Postmortem Evaluation of Sudden Unexplained Death in Youth (PESUDY) procedure. Parents' experiences with this procedure have not been well investigated.

Design and methods: A qualitative semi structured interview study focusing on the experiences and expectations of parents during a postmortem PESUDY-procedure after the sudden death of their child.

Results: A total of 9 interviews were conducted, in which 16 parents were interviewed. The deceased children were between 0 and 17 years old. Seven of the nine deceased children had been diagnosed with a cause of death after completion of the PESUDY-procedure. Various themes were identified in the interviews such as, core values in decision-making, guilt and grief. Advice for improvement of the procedure were given by the parents.

Conclusion: Parents generally experience the PESUDY-procedure as positive. Participation is experienced as voluntary, designed for parents. The interaction between medical professionals and parents is an important factor for parental satisfaction with the procedure. Wishes regarding communication were very diverse, which makes individual coordination important. In addition, participation in the PESUDY-procedure can reduce feelings of guilt and provide some comfort, regardless of the medical outcomes of the procedure.

A 32-year-old man presented with axillary and inguinal freckling, 13 café-au-lait macules (> 15 mm), and multiple neurofibromas, consistent with the clinical diagnosis Neurofibromatosis type 1 (NF1). DNA analysis confirmed this diagnosis by identifying a pathogenic NF1 variant, enabling monitoring for complications, genetic counselling and screening for family members.

Medication adherence refers to the extent to which patients follow their treatment as agreed with their healthcare provider. Approximately 30-50% of patients are non-adherent, due to intentional or practical reasons. High-risk groups include those with chronic illnesses, cognitive impairments, or limited understanding of their condition. Detection and monitoring of non-adherence require open non-judgmental communication to the patient, and collaboration among healthcare disciplines. Effective strategies to improve adherence combine education, personal support, and digital tools, tailored to individual needs. Simple interventions - for instance linking medication to daily routines or involving caregivers - can also improve adherence. Personalization, trust, and effective communication are key to enhancing long-term treatment success.

A toddler with upper airway obstruction was admitted to a peripheral hospital, with a differential diagnosis of laryngitis subglottica, unresponsive to treatments and deteriorating. The child was brought to theatre for airway management. After induction, the glottic opening was not visible. Several attempts using different techniques, adjuncts and staff were not successful and a cannot intubate cannot oxygenate scenario, severe hypoxemia and cardiac arrest occurred. After minutes, a scalpel tracheotomy led to reoxygenation and return of circulation. After transfer to a tertiary center, rigid laryngoscopy showed an almost complete obstruction of the airway by laryngeal papillomatosis. After debulking, the child went to the PICU where he passed away due to irreversible neurological damage. Our patient brought together two teams from two hospitals. We share learning points for healthcare workers and policy makers responsible for pediatric airway care and how emergency front of neck airway differs from (young) adult airway management.

This case report describes a newborn with clinical and radiological features compatible with Moebius syndrome following first-trimester maternal use of misoprostol intended for medical abortion. Despite early vaginal bleeding, the pregnancy continued and the parents opted to proceed. Prenatal ultrasound showed bilateral clubfeet, and postnatal examination revealed cranial nerve dysfunction, hypotonia, and feeding difficulties. An MRI of the cerebrum demonstrated hypoplasia of the pons, thalamic fusion, and absence of the nervus abducens and nervus facialis, findings that support a diagnosis of Moebius syndrome. The report highlights the association between early gestational misoprostol exposure and congenital anomalies, which may not be detectable via prenatal imaging. Counseling and multidisciplinary follow-up are essential. Although the absolute risk is low, clinicians should remain aware of the teratogenic risks after misoprostol exposure.

The increasing use of comprehensive genomic testing raises the likelihood of encountering unsolicited findings. These are (likely) pathogenic variants that predispose to a disease unrelated to the clinical question, but might be of relevantceto the patient and/or their family members. Any healthcare professional requesting genomic testing may encounter unsolicited findings. It is generally recommended to report unsolicited findings only if it is considered medically actionable, unless the patient has explicitly opted out of receiving such information. Ultimately, the healthcare professional requesting the genetic test, is responsible for deciding whether to communicate the finding to the patient. In this paper, we present two fictional case studies to illustrate the dilemmas that may arise in the context of unsolicited findings. This will help doctors when choosing genomic testing and weighing the expected benefits against potential harms. It also enables them to better inform patients about the possibility and implications of unsolicited findings.

A home kit test to rapidly assess a woman's fertility status sounds ideal and is in line with the current health trends. However, these commercially offered home tests are expensive and provide very limited and potentially unreliable information, leaving room for uncertainty and if falsely interpreted may lead to drastic life choices. The only certainty is that postponing childbearing until after age 30 leads to decreased chances of pregnancy and an increased risk of birth defects, and unwanted childlessness. In an unselected population, fertility tests offer little added value. If women or couples are having concerns or questions about their fertility or family planning, the advised route would be to contact their general practitioner who can determine whether it's indicated to perform specific additional tests or refer to a fertility clinic or hospital. These consultations are covered by the Dutch health insurance. The only correct advice for women with questions about their fertility is: monitor your cycle, live a healthy lifestyle, don't wait too long and contact your general practitioner with concerns or questions.

A 67-year-old female on hemodialysis presented with persistent hand pain and swelling. She had been using voriconazole for pulmonary aspergillosis. Elevated alkaline phosphatase and periosteal reactions on imaging suggested voriconazole-induced periostitis, confirmed by high serum fluoride. Symptoms resolved within 3 days after switching to posaconazole.

An 11-month-old boy growing up in a vulnerable family environment is not thriving well. The youth healthcare physician provides nutritional advice and refers to a pediatrician. The pediatrician rules out physical causes, gives further nutritional advice, and refers to a dietitian, social worker, and eventually back to youth health care. We wonder whether this referral spiral and unnecessary healthcare costs could have been avoided by using a health-oriented analytical reasoning approach. The method of Health-oriented Analytical Reasoning results in a broad diagnosis that includes contextual factors and appropriate interventions. In this case, we would have focused on building trust with the family, improving nutrition, and reducing stress. There was sufficient reason not to refer to the pediatrician, as no clear signs of physical illness were present. Furthermore, this case highlights the importance of strong collaboration in child health care.

Patients with advanced Parkinson's disease may experience episodes of decreased consciousness, which can be as severe as a coma lasting several hours. Because no clear guidelines exist for managing self-limiting decreased consciousness in Parkinson's disease, these episodes may lead to unnecessary invasive investigations and anxiety. If a person with Parkinson's disease experiences a first episode of decreased consciousness, it is crucial to rule out both treatable and serious non-treatable causes. Furthermore, the potential for recurrence and appropriate management strategies should be discussed. We propose that if such episodes become recurrent, a more conservative treatment approach is justified.