Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 63-year-old male complained of palpitation and dyspnea. ECG showed paroxysmal supraventricular tachycardia. Echocardiogram revealed asymmetrical thickening of the cardiac septum, and by other clinico-pathological observations, nephrotic syndrome and colon adenoma were detected. For these diseases, steroid therapy and operation were performed, respectively. Ten months later, chest X-ray revealed diffuse abnormal shadow in the bilateral lung fields, and the patient expired due to respiratory distress syndrome. The patient's heart weighted 300g and showed extensive myofibril disarray in bilateral ventricles involving the septal region of the heart. Degeneration and atrophy of the atrioventricular node was seen. In the lungs, organizing pneumonia, old pleuritis, diffuse septal fibrosis and cytomegalovirus infection were demonstrated in the alveolar walls. Kidneys showed slightly sclelotic changes in glomeruli and edema-fibrosis in the interstitium. In this rare case, hypertrophic cardiomyopathy was combined with nephrotic syndrome due to glomerular change, and colon adenoma. The patient died of cytomegalovirus infection in the lungs. The histogenesis of myofibril disarray was discussed in these diseases.
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PMID:[An autopsy case of cardiomyopathy combined with nephrotic syndrome and pulmonary cytomegalic inclusion disease]. 164 80

We compared umbilical Doppler velocimetry with biophysical parameters, obstetrical management, and neonatal morbidity. The study of 85 pregnancies was prospective and blind both to the obstetric and pediatric staff. Our results show that under the same biophysical diagnosis, ie, abnormal fetal growth, oligohydramnios, and nonreactive cardiotocographics, the prevalence of neonatal morbidity was significantly higher in fetuses with associated abnormal umbilical pulsatility index (PI) in utero. Newborns with abnormal PI were delivered earlier, mostly for fetal indication, and were smaller and more asymmetrical than newborns with a normal PI in utero. The analysis of morbidity for homogeneous classes of weight showed that in the group of newborns between 1500 and 2500 g, newborns with normal umbilical PI did show only metabolic disturbances and one respiratory distress syndrome. On the contrary, newborns of the same gestational age and of the same weight with abnormal PI had more severe morbid episodes. In the class of weight between 1500 and 1000 g not only the severity but also the prevalence of neonatal morbidity was significantly higher in newborns with an abnormal PI in utero. None of the newborns delivered below 1000 g had a normal umbilical PI. Five died in the early neonatal period. Three suffered from mild neuromotor sequelae. Practical consequences of these findings on fetal management are the scheduled frequency of biophysical examinations, which must be closer and on an inpatient basis whenever abnormal, and the interpretation of other abnormal biophysical parameters, which must be considered as more severe whenever associated with an abnormal umbilical velocimetry.
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PMID:Role of umbilical Doppler velocimetry in the biophysical assessment of the growth-retarded fetus. Answers from neonatal morbidity and mortality. 189 71

Echocardiographic M-mode examinations were performed in 30 infants of diabetic mothers (IDM). Twelve of them had severe symptoms with hyperbilirubinemia, respiratory distress syndrome, septicemia and hypoglycemia in the neonatal period. The gestational age ranged from the 34th week to the 40th week, the birth weight ranging between 2280 g and 5820 g (mean 3455 g). Fifteen patients were restudied at different ages. In group A (age 1-14 days) out of 23, in group B (age 14 days-6 months) 5 from 13 IDM and in group C (older than 6 months, (n=10) no IDM had an increased ratio of intraventricular septal thickness (IVS) to left ventricular posterior wall thickness (LVPW). One patient showed a systolic anterior motion of the mitral valve (SAM) without having other symptoms for a left ventricular outflow tract obstruction. All measured dimensions normalized within 6 months. It is concluded that a form of prematurity may be responsible for the transient, asymmetrical, septal hypertrophy.
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PMID:Echocardiographic profile of infants of diabetic mothers. 622 28

The aims of this study were to determine the incidence of typical chest radiography findings - (1) uniform improvement, (2) asymmetrical improvement, (3) no improvement or (4) interstitial emphysema - after therapeutic use of surfactant and to analyse clinical course and outcome. Chest radiographs of 138 infants of very low birth weight treated with surfactant were analysed. Twenty-eight infants with a diagnosis other than typical respiratory distress syndrome (RDS), i. e., sepsis, congenital pneumonia and congenital malformation, were excluded. In 110 patients with clinical and radiological evidence of typical RDS (median gestational age 28 weeks, median birth weight 1070 g) adequate chest radiographs from before and within 72 h after surfactant treatment were available. The time of surfactant application ranged between 1 and 12 h after birth. The most common finding after surfactant treatment was uniform or asymmetrical improvement of pulmonary aeration (80 of 110 patients). Patients with uniform clearing had the best long-term outcome. Asymmetrical clearance was often localised on the right side or in central regions of the lung, and usually disappeared after retreatment with surfactant without clinical significance. In 11 patients no change in aeration was found and retreatment was absolutely ineffective. Development of pulmonary inter- stitial emphysema after surfactant treatment was a grave prognostic sign: 73 % of these infants died within the first 2 weeks of life compared with 10 % of those with uniform or asymmetrical improvement of ventilation.
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PMID:Radiological changes after therapeutic use of surfactant in infants with respiratory distress syndrome. 899 63

There is currently little evidence available concerning the risks of foetal exposure to new anti-epileptic drugs such as lamotrigine, vigabatrin, gabapentine, topiramate. A small number of malformations without organ specificity have been described and are not easy to interpret because of the existence of concomitant treatments. We have reported a series of 12 pregnancies with exposure to recent anti-epilepticdrugs and that were reported to the Post-marketing Surveillance office in Tours, France. Five concerned Lamictal of which 2 related to monotherapy, one concerned Epitomax used in monotherapy and there were 6 cases of polytherapy including Sabril. Associated drug therapies were Depakine, Tegretol, Rivotril and Urbanyl. Six of the patients were on folic acid supplements. The average age of the women was 26.5 years. In each case, treatment had been initiated before conception and was continued for at least 3 months. Of the 12 babies born, only one presented with a malformation (aplasia of the muscle of the left lower lip and asymmetrical abduction of the hips) following exposure to Lamictal and Depakine. Four infants, two of whom were premature, showed signs of neonatal stress: transient respiratory distress and difficulty in taking feeding-bottles following exposure throughout the pregnancy to Epitomax; suction disorders, hypotonia and vomiting were observed after exposure to Sabril, Tegretol and Rivotril throughout the pregnancy; respiratory distress and apnoea--bradycardia were observed after exposure throughout the pregnancy to Lamictal and Urbanyl; respiratory distress and thrombocytopaenia were observed after exposure throughout the pregnancy to Lamictal". This small series confirms that the current data concerning the teratogenicity of new anti-epileptic drugs are as yet insufficient to exclude any teratogenic risk. Consequently, strict adherence to current recommendations relating to drug use during pregnancy is essential. The treatment of all patients wishing to become pregnant should be discussed.
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PMID:[New antiepileptic drugs in pregnancy: outcome of 12 exposed pregnancies]. 1242 60

Intrauterine growth restriction (IUGR) is characterized by fetal growth less than normal for the population and growth potential of a given infant. IUGR can be symmetrical with low weight, length and head circumference indicative usually of a process with its origin early in pregnancy or asymmetrical with sparing of head circumference and length due to processes occurring later in gestation. The acute neonatal consequences of IUGR are perinatal asphyxia and neonatal adaptive problems. These adaptive problems that include respiratory distress due to meconium aspiration, persistent pulmonary hypertension or pulmonary hemorrhage, abnormalities of glucose regulation, temperature instability, and polycythemia are reviewed in this article. Issues specific to the IUGR preterm infant are reviewed as well including an increased incidence of chronic lung disease, necrotizing enterocolitis, retinopathy of prematurity and postnatal growth failure.
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PMID:The IUGR newborn. 1848 25

The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c.2362C > T (p.Arg788*) and a novel frameshift mutation c.2048delG (p.Gly683A1afs*50). Serial nerve conduction study and electromyography confirmed progressive sensorimotor polyneuropathy and neuronopathy. In summary, this case report describes a child with spinal muscular atrophy with respiratory distress type 1 also with congenital cardiac disease and endocrine dysfunction, expanding the phenotypic spectrum of this condition. A high index of suspicion is needed in diagnosing this rare condition to guide the management and genetic counseling.
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PMID:Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation. 2976 Nov 30