Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemangiomas are the most common benign neoplasm in the neonatal period. While most small hemangiomas involute spontaneously, up to 20% may grow to a massive size and never completely involute. Massive hemangiomas are also frequently associated with life-threatening complications, such as airway obstruction, platelet trapping (Kasabach-Merritt syndrome), and high-output heart failure. The use of interferon alfa-2a for the treatment of massive hemangiomas not responsive to traditional therapy has recently been reported. We present the successful use of interferon alfa-2a in a series of five patients with massive hemangiomas complicated by airway compromise, congestive heart failure, need for tracheotomy, Kasabach-Merritt syndrome, and failure to thrive, despite traditional therapy.
 ...
PMID:The use of interferon alfa-2a for life-threatening hemangiomas. 777 25

The presentation, pattern of acute illness, and incidence of learning difficulties are described in 63 (33 boys, 30 girls) children with salt wasting 21-hydroxylase deficiency, drawn from a cohort study of congenital adrenal hyperplasia in the South West Region of England between 1968 and 1988. Thirty boys presented with a salt losing crisis from birth whereas the other three boys presented between 2 and 14 months of age with failure to thrive and hyponatraemia. Diagnostic uncertainty led to 13 (43%) of 30 girls developing a salt losing crisis. Five girls were misassigned as boys at birth. There were four deaths in the group, two due to salt losing crisis, one to complications of prematurity possibly compounded by 21-hydroxylase deficiency, and one from heart failure probably related to an excess of steroids. Acute admissions were common, especially during the first year of life, with convulsions in 7% of admissions. The 9% incidence of hypoglycaemia was considered to be an underestimate as blood glucose was measured in only 56 (22%) of 254 admissions. No convulsions occurred in the 38 (15%) admissions where the parents had given intramuscular hydrocortisone before bringing the child to hospital. A high incidence of learning difficulties was found among the 59 surviving children (9/30 (30%) boys and 6/29 (21%) girls), and in only two children could any factor other than 21-hydroxylase deficiency be invoked. Analysis of the subgroup with learning difficulties indicated that they were more ill at presentation with a significantly higher incidence of hypoglycaemia, and that growth in the first year was significantly worse. It is concluded that congenital adrenal hyperplasia remains a formidable disorder with an appreciable mortality and morbidity. The high incidence of learning difficulties seen in salt wasting 21-hydroxylase deficiency needs further attention. A prospective study is indicated to examine the effect of neonatal screening on morbidity from congenital adrenal hyperplasia, particularly the intellectual impairment seen in this study.
 ...
PMID:Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. 813 66

The present Swedish health surveillance programme includes 15 examinations by a nurse, 5 examinations by a physician, 7 assessments of development, 2 assessments of hearing and 1 assessment of visual acuity. The WHO criteria for evaluation of screening programmes can be applied to the Swedish health surveillance programme. These criteria state that the health problem must be important, that there should be an early phase during which the condition is only detectable by medical professionals and that treatment at an early phase should favourably affect the prognosis. The quality of evidence for fulfilment of these criteria has been graded I-III. Grade II-2 refers to evidence obtained from well-designed cohort or case-control analytical studies. The following disorders might be affected by health surveillance at child health centres: amblyopia, ADHD/DAMP, failure to thrive, cerebral palsy, congenital heart failure, congenital luxation of hip, hearing impairment (severe or moderate), mental retardation, retentio testis and hydrocephalus. None of these conditions fulfils the WHO criteria with quality of evidence grade II-2 or better. Thus the evidence for the present Swedish health surveillance programmed is problematic.
 ...
PMID:Quality of evidence for the present Swedish child health surveillance programme. 1105 11

A female neonate with diffuse hemangiomatosis and hepatic hemangiomas had cardiac insufficiency develop and had failure to thrive. Her disease was unresponsive to prednisone. She received two courses of cyclophosphamide 10 days apart and a final course 2.5 weeks later. Twelve days after the second course of cyclophosphamide, her liver was significantly smaller. She is now 6-years-old, well-developed, and has no signs of hepatomegaly, malnourishment, or heart failure. Cyclophosphamide appears to be a safe, effective, and rapid treatment of life-threatening hemangiomas of infancy.
 ...
PMID:Successful treatment with cyclophosphamide of life-threatening diffuse hemangiomatosis involving the liver. 1113 22

Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes. We report on a colony of domestic shorthair cats with ML II that was established from a half-sibling male of an affected cat. Ten male and 9 female kittens out of 89 kittens in 26 litters born to clinically normal parents were affected; this is consistent with an autosomal recessive mode of inheritance. The activities of three lysosomal enzymes from affected kittens, compared to normal adult control cats, were high in serum (11-73 times normal) but low in cultured fibroblasts (9-56% of normal range) that contained inclusion bodies (I-cells), reflecting the unique enzyme defect in ML II. Serum lysosomal enzyme activities of adult obligate carriers were intermediate between normal and affected values. Clinical features in affected kittens were observed from birth and included failure to thrive, behavioral dullness, facial dysmorphia, and ataxia. Radiographic lesions included metaphyseal flaring, radial bowing, joint laxity, and vertebral fusion. In contrast to human ML II, diffuse retinal degeneration leading to blindness by 4 months of age was seen in affected kittens. All clinical signs were progressive and euthanasia or death invariably occurred within the first few days to 7 months of life, often due to upper respiratory disease or cardiac failure. The clinical and radiographic features, lysosomal enzyme activities, and mode of inheritance are homologous with ML II in humans. Feline ML II is currently the only animal model in which to study the pathogenesis of and therapeutic interventions for this unique storage disease.
 ...
PMID:Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. 1455 88

Obstructive sleep apnoea (OSA) is a common entity in children, most present with sleep disturbances such as snoring, choking during sleep, enuresis, restless sleep, or apnoeic spells. Other symptoms include poor school performance, hyperactivity, failure to thrive, heart failure and cor pulmonale. Most authors would concur that the polysomnogram (PSG) is the gold standard for the diagnosis of OSA, and that adenotonsillectomy is the surgical procedure of choice, with high curative rates and relatively low morbidity. Close post-operative monitoring of all children with OSA cannot be over-emphasized. The focus has been, traditionally, to anticipate post-operative airway and respiratory complications in this group of children. We present 73 children with clinical OSA and 36 children with proven OSA on PSG, with only one child having respiratory complications (mixed apnoea), and all with uneventful recovery. In view of our low complication rates, low post-operative morbidity, cost and facility factor, the need for a mandatory overnight PSG pre-operatively is questioned, and clinical criteria for performing a PSG preoperatively are suggested.
 ...
PMID:Paediatric obstructive sleep apnoea: is a polysomnogram always necessary? 1511 65

Total anomalous pulmonary venous connection (TAPVC) is a congenital cardiac malformation that requires surgical therapy. The majority of patients will present either in the neonatal period or early infancy, with cyanosis and signs of cardiac failure (eg, tachypnea, feeding difficulties, diaphoresis, failure to thrive). Surgical repair is best carried out on diagnosis, as an elective procedure, to avoid potential long-term problems associated with right heart volume and pressure overload, or long-standing cyanosis. Occasionally, in severely sick patients with obstructed forms of pulmonary venous drainage, emergency surgical repair may be required. The operative mortality for isolated TAPVC using current management techniques is less than 10%, and the long-term outlook for the majority of patients is excellent. In contrast, patients with associated complex cardiac malformations have a less favorable prognosis, determined both by the need to palliate the associated defects and the often underdeveloped pulmonary vascular bed. The major long-term complication is pulmonary venous obstruction, which may be recurrent in up to 10% of patients. This requires aggressive management strategies, involving reoperation, and balloon angioplasty or stent implantation. The prognosis for these patients is determined by the number of vessels involved and the degree of stenosis, which can often be recurrent and progressive. Late tachy- and bradyarrhythmias have also been described, requiring antiarrhythmic drug therapy or pacemaker implantation, emphasizing the need for continued long-term follow-up of all patients with TAPVC.
 ...
PMID:Total Anomalous Pulmonary Vein Connection: Diagnosis, Management, and Outcome. 1532 18

Palivizumab is now authorized in France for prophylaxis of respiratory syncytial virus (RSV) infections in infants with haemodynamically significant congenital cardiac disease. A multicentre randomised trial was shown that treatment was safe and effective for such children. The therapeutic protocol is similar to that used in preterm infants and consists of five, monthly, intramuscular injections of palivizumab, at a dose of 15 mg/kg, started 2 months before the onset of epidemic season. To guide clinicians to identify children most likely to benefit from prophylaxis, the Pediatric Cardiac Group of French Cardiac Society has proposed recommendations. Prophylaxis with palivizumab is recommended in high-risk infants for respiratory complications after RSV infection: infants under I year old; left to right shunt with cardiac failure, failure to thrive, pulmonary hypertension or bronchial compression; cyanotic heart disease with oxygen saturation lower than 0.8 at rest; congenital cardiac disease expected to need admission for surgery or catheterization during the epidemic season; cardiomyopathy with cardiac failure; primary or secondary pulmonary hypertension; symptomatic children aged over I year with complex cardiac disease. Decisions regarding prophylaxis with palivizumab should be made in collaboration with the pediatric cardiologist in order to optimize the cost-benefice ratio, on the basis of the degree of physiologic cardiovascular compromise.
 ...
PMID:[Use of palivizumab for the prevention of respiratory syncytial virus infections in children with congenital heart disease. Recommendations from the French Paediatric Cardiac Society]. 1551 44

Partial trisomy of the distal third of the long arm of chromosome 10 is a well defined but rare syndrome. Most cases result from an unbalanced translocation. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. This report includes 2 Egyptian cases with partial 10q trisomy involving different breakpoints. Cases were subjected to full clinical examination and detailed cytogenetic analysis using conventional and FISH studies. Results showed that the karyotype of case 1 was 46,XX,der(7)t(7;10)(p22;q23).ish(wcp7+;wcpl0+) and the karyotype of case 2 was 46,XX,der(7)t(7;10)(p22;q25).ish(wcp7+;wcp 10+). The chromosomal abnormalities in case 1 resulted from a paternal balanced translocation while case 2 resulted from a maternal balanced translocation involving chromosomes 10 and 7 in both cases. The probands' phenotypes were correlated to the breakpoints and compared to previously reported cases with partial trisomy 10q. Both cases had the well characterized phenotype of the distal trisomy of 10q in the form of mental retardation, microcephaly, characteristic dysmorphic facies and limb anomalies as trisomy in both cases involved the 10q25-->qter region. However, case 1 with 10q23-->qter duplication showed more severe clinical manifestations than case 2 with less extensive 10q25-->qter trisomy. These included severe failure to thrive, cardiac involvement and death from respiratory and heart failure. This study confirmed that unbalanced chromosome regions of the long arm of chromosome 10 play an important role in developmental malformations and that a more severe form is associated with involvement of 10q23. It also emphasizes the importance of increasing public awareness regarding these chromosomal rearrangements and the importance of genetic counseling and prenatal diagnosis to avoid recurrences and associated family stress. This was clearly demonstrated in the second family in this study as the couple refused any follow up or further investigations due to religious beliefs despite their social and educational level.
 ...
PMID:Partial trisomy of the distal part of 10q: a report of two Egyptian cases. 1861 95

Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most patients are asymptomatic when the duct is small. With a moderate-to-large duct, a characteristic continuous heart murmur (loudest in the left upper chest or infraclavicular area) is typical. The precordium may be hyperactive and peripheral pulses are bounding with a wide pulse pressure. Tachycardia, exertional dyspnoea, laboured breathing, fatigue or poor growth are common. Large shunts may lead to failure to thrive, recurrent infection of the upper respiratory tract and congestive heart failure. In the majority of cases of PAD there is no identifiable cause. Persistence of the duct is associated with chromosomal aberrations, asphyxia at birth, birth at high altitude and congenital rubella. Occasional cases are associated with specific genetic defects (trisomy 21 and 18, and the Rubinstein-Taybi and CHARGE syndromes). Familial occurrence of PAD is uncommon and the usual mechanism of inheritance is considered to be polygenic with a recurrence risk of 3%. Rare families with isolated PAD have been described in which the mode of inheritance appears to be dominant or recessive. Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities. Diagnosis is based on clinical examination and confirmed with transthoracic echocardiography. Assessment of ductal blood flow can be made using colour flow mapping and pulsed wave Doppler. Antenatal diagnosis is not possible, as PAD is a normal structure during antenatal life. Conditions with signs and symptoms of pulmonary overcirculation secondary to a left-to-right shunt must be excluded. Coronary, systemic and pulmonary arteriovenous fistula, peripheral pulmonary stenosis and ventricular septal defect with aortic regurgitation and collateral vessels must be differentiated from PAD on echocardiogram. In preterm infants with symptomatic heart failure secondary to PAD, treatment may be achieved by surgical ligation or with medical therapy blocking prostaglandin synthesis (indomethacin or ibuprofen). Transcatheter closure of the duct is usually indicated in older children. PAD in preterm and low birth weight infants is associated with significant co-morbidity and mortality due to haemodynamic instability. Asymptomatic patients with a small duct have a normal vital prognosis but have a lifetime risk of endocarditis. Patients with moderate-to-large ducts with significant haemodynamic alterations may develop irreversible changes to pulmonary vascularity and pulmonary hypertension.
 ...
PMID:Patent arterial duct. 1959 90


<< Previous 1 2 3 4 5 Next >>