Search results for " and neonatal diseases and abnormalities"
showing 10 items of 344 documents
Photoplethysmography Analysis of Artery Properties in Patients with Cardiovascular Diseases
2008
In this study arterial parameters of healthy subjects were compared to those of patients with cardiovascular diseases. The photoplethysmography (PPG) measurements of blood volume pulsations have been performed. Using a novel algorithm for analysis of simultaneously measured ear and finger PPG signals, arterial parameters were evaluated in representative groups of healthy subjects and patients with cardiovascular diseases. Digital volume pulse (DVP), pulse cycle duration (T), augmentation index (AIx), reflection index (RI) and transit time of reflected wave (RTT) were evaluated in every heartbeat cycle. Correlations between the AIx and RI, T and RTT, AIx and standard deviation of AIx, RTT an…
Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotoni…
2018
ABSTRACT Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats. Pathogenic DMPK RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations in metabolism of various RNAs. Cardiac dysfunction represents the second most common cause of death in DM type 1 (DM1) patients. However, the contribution of MBNL sequestration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), the Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resem…
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency vi…
2018
In this study we compared the neuropsychological profile of phenylketonuria (PKU) and human immunodeficiency virus (HIV) to examine the specificity of the executive function (EF) impairment reported in these two patologies. A total of 55 age-matched children and adolescents were assessed, including 11 patients with PKU, 16 patients with HIV and 28 healthy controls, underwent a neuropsychological assessment. Although neither the PKU nor the HIV group scored below the normative ranges, both groups showed lower scores in neuropsychological tests engaging EFs than controls. In addition, compared to patients with PKU the HIV group performed significantly worse in the Trail-Making Test A, Corsi S…
Efficacy and safety of Wilate in paediatric VWD patients under 6 years of age - results of a prospective multicentre clinical study including recover…
2013
Treatment with exogenous von Willebrand factor (VWF) is indicated in patients with von Willebrand disease (VWD) in whom treatment with 1-deamino-8-d-arginine vasopressin/desmopressin is contraindicated. Wilate is a new generation plasma-derived concentrate of native VWF and coagulation factor VIII (FVIII) (in a physiological 1:1 ratio) developed for the treatment of VWD. This is the first study to report safety, efficacy and in vivo recovery (IVR) data from 15 paediatric patients less than 6 years of age who received Wilate for either prophylaxis, on-demand treatment or for treatment in surgical procedures during a prospective open-label trial (VWD type 1: 5, type 2A: 1, type 2B: 2, type 3:…
Abnormal Somatosensory Evoked Potentials Indicate Compressive Cervical Myelopathy in Mucopolysaccharidoses
2000
Compressive myelopathy at the cranio-cervical junction is a complication of mucopolysaccharidoses (MPS). To detect cervical myelopathy we recorded median and posterior tibial nerve SEPs in 15 patients aged 2.4 - 33.4 years (median 8.8 years) with MPS I-S (n = 3), MPS IVA (n = 8) and MPS VI (n = 4). In addition to the cortical waveforms we recorded the subcortical median nerve SEPs N13b and P13 generated near the cranio-cervical junction and the lemniscal P30 after posterior tibial nerve stimulation. MRI studies in 13 subjects revealed spinal cord compression at the cranio-cervical junction in 10 patients; 5 patients had an increased signal intensity on the T2-weighted initial MRI indicating…
Novel <b><i>VANGL1</i></b> Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
2012
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human <i>VANGL1</i> gene have been described in a small subset of patients with NTDs. We performed a <i>VANGL1</i> mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613…
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70.
2017
International audience; Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal protein (RP) gene. Additional cases have been associated with mutations in GATA1. We have previously established that the RPL11+/Mut phenotype is more severe than RPS19+/Mut phenotype because of delayed erythroid differentiation and increased apoptosis of RPL11+/Mut erythroid progenitors. The HSP70 protein is known to protect GATA1, the major erythroid transcription factor, from caspase-3 mediated cleavage during normal erythroid differentiation.…
Methionine in a protein hydrophobic core drives tight interactions required for assembly of spider silk
2019
Web spiders connect silk proteins, so-called spidroins, into fibers of extraordinary toughness. The spidroin N-terminal domain (NTD) plays a pivotal role in this process: it polymerizes spidroins through a complex mechanism of dimerization. Here we analyze sequences of spidroin NTDs and find an unusually high content of the amino acid methionine. We simultaneously mutate all methionines present in the hydrophobic core of a spidroin NTD from a nursery web spider’s dragline silk to leucine. The mutated NTD is strongly stabilized and folds at the theoretical speed limit. The structure of the mutant is preserved, yet its ability to dimerize is substantially impaired. We find that side chains of…
Aneurysma des Ductus arteriosus Botalli
2000
A congenital aneurysm of the ductus arteriosus Botalli was detected by chest X-ray as an intrathoracic mass in a 7-day-old infant. Following confirmation of the diagnosis by echocardiography and MRI the aneurysm was successfully resected via left lateral thoracotomy without cardiopulmonary bypass. The postoperative course was uneventful. Six years after operation the patient is asymptomatic and growing normally. An intrathoracic mass may be considered in the differential diagnosis especially in infants and children. Aneurysms of ductus arteriosus potentially are associated with serious complications. Timely diagnosis and early surgical intervention are decisive for prevention of serious com…
Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction
2015
Up to 80% of individuals with myotonic dystrophy type 1 (DM1) will develop cardiac abnormalities at some point during the progression of their disease, the most common of which is heart blockage of varying degrees. Such blockage is characterized by conduction defects and supraventricular and ventricular tachycardia, and carries a high risk of sudden cardiac death. Despite its importance, very few animal model studies have focused on the heart dysfunction in DM1. Here, we describe the characterization of the heart phenotype in a Drosophila model expressing pure expanded CUG repeats under the control of the cardiomyocyte-specific driver GMH5-Gal4. Morphologically, expression of 250 CUG repeat…