Pediatrics
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Fibrodysplasia ossificans progressiva is a rare and disabling genetic condition characterized by congenital malformation of the great toes and by progressive heterotopic ossification in specific anatomic patterns. Most patients with fibrodysplasia ossificans progressiva are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures that can cause lifelong disability. Recently, the genetic cause of fibrodysplasia ossificans progressiva was identified, and definitive genetic testing for fibrodysplasia ossificans progressiva is now available before the appearance of heterotopic ossification. ⋯ Clinical suspicion of fibrodysplasia ossificans progressiva early in life on the basis of malformed great toes can lead to early clinical diagnosis, confirmatory diagnostic genetic testing, and the avoidance of additional harmful diagnostic and treatment procedures. This is the first report of genetic confirmation of fibrodysplasia ossificans progressiva before the appearance of heterotopic ossification. Pediatricians should be aware of the early diagnostic features of fibrodysplasia ossificans progressiva, even before the appearance of heterotopic ossification. This awareness should prompt early genetic consultation and testing and the institution of assiduous precautions to prevent iatrogenic harm.
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Many cancers that present in children and adolescents are curable with surgery, chemotherapy, and/or radiation therapy. Potential adverse consequences of treatment include sterility, infertility, or subfertility as a result of either gonad removal or damage to germ cells from adjuvant therapy. ⋯ Simultaneously, advances in assisted reproductive techniques have led to new possibilities for the prevention and treatment of infertility. This technical report reviews the topic of fertility preservation in pediatric and adolescent patients with cancer, including ethical considerations.
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Randomized Controlled Trial
Achievement of targeted saturation values in extremely low gestational age neonates resuscitated with low or high oxygen concentrations: a prospective, randomized trial.
Extremely low gestational age neonates have very low oxygen saturation in utero and an immature antioxidant defense system. Abrupt increases in oxygen saturation after birth may cause oxidative stress. We compared achievement of a targeted oxygen saturation of 85% at 10 minutes of life when resuscitation was initiated with low or high fractions of inspired oxygen and levels were adjusted according to preductal pulse oxygen saturation values. ⋯ Resuscitation can be safely initiated for extremely low gestational age neonates with a low fraction of inspired oxygen (approximately 30%), which then should be adjusted to the infant's needs, reducing the oxygen load to the neonate.
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Habitual snoring and obstructive sleep apnea have been associated with bed-wetting in children, and effective obstructive sleep apnea treatment may improve enuresis. ⋯ Habitual snoring is associated with increased prevalence of enuresis, and brain natriuretic peptide levels are increased in enuretic children with further increases with obstructive sleep apnea. However, the prevalence of enuresis is not modified by severity of sleep disturbance. Even mild increases in sleep pressure because of habitual snoring may raise the arousal threshold and promote enuresis, particularly among prone children, that is, those with elevated brain natriuretic peptide levels.
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Studies of symptoms in children dying a cancer-related death typically rely on medical chart reviews or parental responses to symptom checklists. However, the mere presence of a symptom does not necessarily correspond with the distress it can cause the child's parents. The purpose of this study was to identify the cancer-related symptoms that most concerned parents during the last days of their child's life and the strategies parents identified as helpful with their child's care. ⋯ This knowledge can guide professionals in preparing parents for the symptoms that a child imminently dying of cancer is likely to experience and in providing care that will be helpful to parents.