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The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases. According to the recommendations of the Swiss National Ethical Commission, we shall use the term « Variation of Sex Development ¼ rather than « Disorder of Sex Development ¼ in this publication. This article addresses the care of DSD patients throughout development from the point of view of specialists in complementary fields.
La prise en charge des personnes avec une variation du développement sexuel (VDS) (disorder of sex development, DSD) est un défi tant sur le plan médical, psychologique que social. L'amélioration des connaissances étiologiques et génétiques, les nouvelles approches chirurgicales et l'influence tant des groupes de patients que de la Commission d'éthique suisse ont considérablement modifié la vision de la prise en charge de ces personnes durant ces dernières décennies. Une approche pluridisciplinaire et spécialisée est cruciale pour appréhender ces situations rares et souvent complexes. Le point de vue des différents spécialistes impliqués au long de la vie dans la prise en charge d'une VDS est abordé dans cet article.
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Trastornos del Desarrollo Sexual/terapia , Comunicación Interdisciplinaria , Especialización , Trastornos del Desarrollo Sexual/fisiopatología , Ética Médica , Humanos , Masculino , SuizaRESUMEN
BACKGROUND: Non-pharmaceutical interventions during the COVID-19 pandemic caused an unusual epidemiology in bronchiolitis hospitalisations, with a peak in the summer seasons of 2020 and 2021. AIM: The aim of this study was to analyse data from a 5-year period (2018-2022) at Hôpital du Jura in Delémont, Switzerland, regarding bronchiolitis hospitalisations before, during and towards the end of the COVID-19 pandemic in order to prepare for future changes in bronchiolitis epidemiology. MATERIALS AND METHODS: Anonymous retrospective data on bronchiolitis hospitalisations for children under 2 years of age with hospital admission date from 1 January 2018 to 31 December 2022 was obtained from the Health Records Coding Unit of our hospital. RESULTS: A clear shift in the peak of bronchiolitis is seen in 2021 compared to the three previous years. Starting in spring 2022, the trend begins to mimic pre-pandemic years. For respiratory syncytial virus (RSV) bronchiolitis hospitalisations specifically, an important peak in hospitalisations is seen in the summer months of 2021, with over 20 admissions, compared to zero admissions in the previous years. This peak shifts to the winter months in 2022. CONCLUSIONS: The non-pharmacological interventions implemented during 2020 and early 2021 did not cause a long-lasting seasonal shift in bronchiolitis. In 2022, when the non-pharmacological interventions were no longer in place in the non-hospital setting, the peak of bronchiolitis hospitalisations is seen once again in the winter months. We predict that hospitalisation patterns will gradually revert to those of pre-pandemic years.
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Bronquiolitis , COVID-19 , Hospitalización , Humanos , Suiza/epidemiología , COVID-19/epidemiología , Estudios Retrospectivos , Lactante , Hospitalización/estadística & datos numéricos , Bronquiolitis/epidemiología , Femenino , Masculino , Estaciones del Año , SARS-CoV-2 , Infecciones por Virus Sincitial Respiratorio/epidemiología , Recién Nacido , PandemiasRESUMEN
AIMS: As growing concerns exist regarding phthalate exposure, which could be teratogenic, carcinogenic or induce reproductive toxicity, we aimed to review the evidence of the risks due to the use of medical devices containing di(2-ethylhexyl)phthalate in hospitalized neonates. METHODS: We reviewed the literature, searching through medical literature databases (Pubmed, MEDLINE, EBM reviews, Cochrane database, Embase and Google Scholar) using the following keywords: phthalate, di(2-ethylhexyl)phthalate, newborn and neonate. RESULTS: We identified several associations with short and long term health dangers, mainly subfertility, broncho-pulmonary dysplasia, necrotising enterocolitis, parenteral nutrition associated cholestasis and neuro-developmental disorders. These data are based mainly on animal or observational human studies. CONCLUSION: Clinicians must be aware of the potential risks due to phthalate exposure in the NICU. Di(2-ethylhexyl)phthalate containing materials should be identified and alternative devices should be considered. There is a need to improve knowledge in this area.
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Dietilhexil Ftalato/toxicidad , Exposición a Riesgos Ambientales/efectos adversos , Unidades de Cuidado Intensivo Neonatal , Plastificantes/toxicidad , Animales , Monitoreo del Ambiente , Femenino , Humanos , Recién Nacido , Guías de Práctica Clínica como Asunto , Embarazo , Efectos Tardíos de la Exposición Prenatal/inducido químicamenteRESUMEN
To determine the separate and interactive effects of fetal inflammation and neonatal hyperoxia on the developing lung, we hypothesized that: 1) antenatal endotoxin (ETX) causes sustained abnormalities of infant lung structure; and 2) postnatal hyperoxia augments the adverse effects of antenatal ETX on infant lung growth. Escherichia coli ETX or saline (SA) was injected into amniotic sacs in pregnant Sprague-Dawley rats at 20 days of gestation. Pups were delivered 2 days later and raised in room air (RA) or moderate hyperoxia (O2, 80% O2 at Denver's altitude, â¼65% O2 at sea level) from birth through 14 days of age. Heart and lung tissues were harvested for measurements. Intra-amniotic ETX caused right ventricular hypertrophy (RVH) and decreased lung vascular endothelial growth factor (VEGF) and VEGF receptor-2 (VEGFR-2) protein contents at birth. In ETX-exposed rats (ETX-RA), alveolarization and vessel density were decreased, pulmonary vascular wall thickness percentage was increased, and RVH was persistent throughout the study period compared with controls (SA-RA). After antenatal ETX, moderate hyperoxia increased lung VEGF and VEGFR-2 protein contents in ETX-O2 rats and improved their alveolar and vascular structure and RVH compared with ETX-RA rats. In contrast, severe hyperoxia (≥95% O2 at Denver's altitude) further reduced lung vessel density after intra-amniotic ETX exposure. We conclude that intra-amniotic ETX induces fetal pulmonary hypertension and causes persistent abnormalities of lung structure with sustained pulmonary hypertension in infant rats. Moreover, moderate postnatal hyperoxia after antenatal ETX restores lung growth and prevents pulmonary hypertension during infancy.
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Animales Recién Nacidos , Endotoxinas/farmacología , Feto/efectos de los fármacos , Hiperoxia , Hipertensión Pulmonar/inducido químicamente , Pulmón/efectos de los fármacos , Pulmón/crecimiento & desarrollo , Animales , Femenino , Feto/anatomía & histología , Edad Gestacional , Humanos , Hipertensión Pulmonar/fisiopatología , Hipertrofia Ventricular Derecha/inducido químicamente , Lactante , Pulmón/anatomía & histología , Pulmón/fisiopatología , Oxígeno/metabolismo , Embarazo , Efectos Tardíos de la Exposición Prenatal , Ratas , Ratas Sprague-DawleyRESUMEN
Functional echocardiography has become an invaluable tool in the pediatric and neonatal intensive care unit. "Point-of-care," "target," or "focus" echocardiography allows bedside cardiac ultrasound evaluation of the hemodynamic status of the patient, helps in directing treatment, thus improves patients care. In order to be able to perform functional echocardiography, it is essential to understand the principles of ultrasound, to know the echocardiographic equipment and settings necessary to acquire the images. This article focuses therefore on the basics of cardiac ultrasound. It is meant to give an overview of two-dimensional echocardiographic views, M-mode imaging and Doppler echocardiography for neonatologists and pediatric intensivists. It is richly illustrated for better understanding with some examples of clinical applications of functional echocardiography in the intensive care setting.
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BACKGROUND: The aetiology of perinatal arterial ischemic stroke remains speculative. It is however widely accepted that the aetiology is multifactorial, involving various maternal, placental, foetal and neonatal risk factors. A resulting thromboembolic process is hypothesized and the placenta identified as the most plausible source. An arteriopathy, as observed in a significant proportion of childhood ischemic stroke, is thought to be rare. METHODS: We report here five cases of perinatal stroke that differ from the vast majority by documented carotid occlusion, and add eleven other similar cases from the literature. RESULTS: In the majority, an intraluminal thrombus of placental origin is the most probable hypothesis, while in the remaining ones, one can reasonably presume a direct vessel wall injury related to a traumatic delivery, yet generally unproven by imaging. CONCLUSION: We hypothesize that most of these cases share similar pathophysiology with the more common perinatal arterial ischemic stroke but differ by a persistent identified thrombus in the carotid artery at the time of first imaging, leading to a more severe and extended ischemic damage responsible for an adverse neurological outcome.
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Arteriopatías Oclusivas/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Arterias Carótidas/diagnóstico por imagen , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Arteriopatías Oclusivas/complicaciones , Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/etiología , Enfermedades de las Arterias Carótidas/complicaciones , Angiografía Cerebral , Parálisis Cerebral/etiología , Discapacidades del Desarrollo/etiología , Epilepsias Parciales/etiología , Femenino , Humanos , Recién Nacido , Discapacidad Intelectual/etiología , Angiografía por Resonancia Magnética , Masculino , Placenta/patología , Embarazo , Factores de Riesgo , Accidente Cerebrovascular/etiologíaRESUMEN
We hypothesized that abnormal fetal lung growth in experimental congenital diaphragmatic hernia after maternal nitrofen exposure alters lung structure due to impaired VEGF signaling, which can be reversed with VEGF or nitric oxide (NO) treatment. Timed-pregnant Sprague-Dawley rats were treated with nitrofen on embryonic day 9 (E9), and fetal lungs were harvested for explant culture on E15. Explants were maintained in 3% O2 for 3 days and were treated with NO gas or recombinant human VEGF protein for 3 days. To determine the effects of VEGF inhibition on lung structure, normal fetal lung explants were treated with SU-5416, a VEGF receptor inhibitor, with or without exogenous NO or VEGF. We found that nitrofen treatment impaired lung structure, as evidenced by decreased branching at day 0, but lung structure was not different from controls after 3 days in culture. Nitrofen reduced lung VEGF but not endothelial NO synthase protein level. Treatment with NO enhanced lung growth in control and nitrofen-exposed lungs; however, the response to NO in the nitrofen-treated lungs was reduced when compared with controls. VEGF treatment did not cause a further increase in lung complexity after nitrofen exposure. SU-5416 treatment altered lung structure, which improved with NO but not VEGF treatment. Both nitrofen and SU-5416 treatment increased apoptosis in the mesenchyme of fetal lung explants. We conclude that nitrofen exposure increased apoptosis, decreased lung growth and reduced VEGF expression, and that exogenous NO but not VEGF treatment enhances lung growth. Disruption of lung architecture after VEGF receptor blockade was similar to nitrofen-induced changes but was more responsive to NO.
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Pulmón/embriología , Óxido Nítrico/fisiología , Éteres Fenílicos/farmacología , Receptores de Factores de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Transducción de Señal/efectos de los fármacos , Factor A de Crecimiento Endotelial Vascular/fisiología , Animales , Feto , Indoles/farmacología , Pulmón/efectos de los fármacos , Modelos Animales , Inhibidores de Proteínas Quinasas/farmacología , Pirroles/farmacología , RatasRESUMEN
Perinatal adverse events such as limitation of nutrients or oxygen supply are associated with the occurrence of diseases in adulthood, like cardiovascular diseases and diabetes. We investigated the long-term effects of perinatal hypoxia on the lung circulation, with particular attention to the nitric oxide (NO)/cGMP pathway. Mice were placed under hypoxia in utero 5 days before delivery and for 5 days after birth. Pups were then bred in normoxia until adulthood. Adults born in hypoxia displayed an altered regulation of pulmonary vascular tone with higher right ventricular pressure in normoxia and increased sensitivity to acute hypoxia compared with controls. Perinatal hypoxia dramatically decreased endothelium-dependent relaxation induced by ACh in adult pulmonary arteries (PAs) but did not influence NO-mediated endothelium-independent relaxation. The M(3) muscarinic receptor was implicated in the relaxing action of ACh and M(1) muscarinic receptor (M(1)AChR) in its vasoconstrictive effects. Pirenzepine or telenzepine, two preferential inhibitors of M(1)AChR, abolished the adverse effects of perinatal hypoxia on ACh-induced relaxation. M(1)AChR mRNA expression was increased in lungs and PAs of mice born in hypoxia. The phosphodiesterase 1 (PDE1) inhibitor vinpocetine also reversed the decrease in ACh-induced relaxation following perinatal hypoxia, suggesting that M(1)AChR-mediated alteration of ACh-induced relaxation is due to the activation of calcium-dependent PDE1. Therefore, perinatal hypoxia leads to an altered pulmonary circulation in adulthood with vascular dysfunction characterized by impaired endothelium-dependent relaxation and M(1)AChR plays a predominant role. This raises the possibility that muscarinic receptors could be key determinants in pulmonary vascular diseases in relation to "perinatal imprinting."