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Open AccessCorrection to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
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Open AccessIncidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited.
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Open AccessGene expression profiling at birth characterizing the preterm infant with early onset infection
Early onset infection (EOI) in preterm infants <32 weeks gestational age (GA) is associated with a high mortality rate and the development of severe acute and long-term complications. The pathophysiology of EO...
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Congenital CLN disease in two siblings
Neuronal ceroid lipofuscinoses (NCL) is characterized by a combination of retinopathy, dementia, and epilepsy. As a group, they encompass ten distinct biological and clinical entities and are the most common t...
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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We de...
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Recurrent Severe Ulcers Due to Seizures
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Open AccessSimulation-based neonatal resuscitation training of medical students: is Peyton’s 4-stage approach more effective than traditional 2-stage technique?
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Open AccessMitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants
The mitochondrial m.1555A>G mutation is associated with a high rate of permanent hearing loss, if aminoglycosides are given. Preterm infants have an increased risk of permanent hearing loss and are frequently ...
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Subgaleal Hematoma
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A 2-month-old infant with vomiting, seizures, and progressive apathy
A 2-month-old infant was admitted to hospital because of recurrent vomiting for 1 week, progressive apathy, and focal seizures. The cranial MRI showed a noticeable result.
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Melatonin does not influence sleep deprivation electroencephalogram recordings in children
The electroencephalogram (EEG) is an essential diagnostic tool in children with epilepsy. The recording of a sleep EEG can increase the yield of EEG recordings in certain epileptic syndromes. The primary aim o...
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Heavy alcohol consumption in children and adolescents: characteristics and gender differences
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The role of milrinone in children with cardiovascular compromise: review of the literature
GRUNDLAGEN: Kardiovaskuläre Funktionsstörungen treten bei Kindern gehäuft nach herzchirurgischen Operationen unter Verwendung der Herz-Lungen-Maschine und im Rahmen eines Schockgeschehens auf. METHODIK: System...
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The role of vasopressin and terlipressin in catecholamine-resistant shock and cardio-circulatory arrest in children: Review of the literature
GRUNDLAGEN: Der katecholamin-refraktäre Schock und das Herz-Kreislaufversagen im Kindesalter sind mit einer hohen Morbidität und Mortalität assoziiert. In den letzten Jahren wird zunehmend Vasopressin und Terl...
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Open AccessDifferential cell reaction upon Toll-like receptor 4 and 9 activation in human alveolar and lung interstitial macrophages
Investigations on pulmonary macrophages (MΦ) mostly focus on alveolar MΦ (AM) as a well-defined cell population. Characteristics of MΦ in the interstitium, referred to as lung interstitial MΦ (IM), are rather ...
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Smoking and smoking cessation during pregnancy
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Mechanisms of disease/hypothesis: Neurogenic left ventricular dysfunction and neurogenic pulmonary oedema
GRUNDLAGEN: Das Auftreten kardiovaskulärer Funktionsstörungen kann durch eine akute Störung des zentralen autonomen Nervensystems verursacht werden. Die Inselregion, der laterale Hypothalamus sowie der Hirnsta...
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Iatrogenic ventricular tachycardia
Cardiac arrhythmias may complicate the clinical course in infants and children following cardiac surgery. Here, we report on a 6-week-old neonate who developed life-threatening ventricular tachycardia with car...
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Comment on “Impact of recent intravenous chemotherapy on outcome in severe sepsis and septic shock patients with haematological malignancies” by Vandijck et al.
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Evidence-based medicine in neonatology: time to re-think