Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of nocturnal enuresis (wet at least two nights a week) was investigated in children, aged 8, who were being followed up as part of a prospective cohort study. There were 175 children with homozygous sickle cell disease, 106 with sickle cell haemoglobin C disease, and 150 controls with a normal haemoglobin genotype. In homozygous sickle cell disease, 48 boys (52%) and 31 girls (38%) were enuretic, a significantly higher prevalence than in those with sickle cell haemoglobin C disease--five boys (10%) and 11 girls (20%)--or in normal children--16 boys (22%) and 13 girls (17%). There was no significant difference between children with sickle cell haemoglobin C disease and the normal genotype. Boys with homozygous sickle cell disease were significantly more likely to be enuretic if they came from large families; there was a similar trend for girls with homozygous sickle cell disease, although it did not reach significance. Enuresis was more common in boys with homozygous sickle cell disease who had low concentrations of fetal haemoglobin and in girls with sickle cell haemoglobin C disease who had high mean corpuscular haemoglobin concentrations. Similar associations were not shown for girls with homozygous sickle cell disease or boys with sickle cell haemoglobin C disease.
 ...
PMID:Nocturnal enuresis in sickle cell haemoglobinopathies. 233 6

The clinical, haematological and biochemical features of 50 Sudanese patients with sickle cell disease (SCD) were determined. Of 23 patients with complete family data, 21 had sickle cell anaemia (homozygous HbSS), 2 had sickle-cell/beta+thalassaemia but none had sickle cell/beta Othalassaemia. The remaining 27 patients had HbSS phenotype. 84% of patients were from the Baggara tribe in western Sudan, where HbS is a natural extension of the west African HbS belt. 21 patients were children under 2 years old; 19 were 3-10 years old; and the remaining 10 were over 10 years old. Young patients presented mainly with painful vaso-occlusive crisis, severe anaemia, hand and foot syndrome, fever, underweight, malnutrition and various infectious diseases. All patients had mild to moderate cardiac enlargment; 42% had a moderately enlarged spleen but only 10% had an enlarged liver; 20% had infarctive lesions of long bones and another 8% had Salmonella osteomyelitis. Leg ulcers, priapism, enuresis and cholelithiasis were not observed. Patients had a mean haemoglobin concentration of 7.3 g/dl; reticulocyte count of 15.1%; serum bilirubin of 2.1 mg/dl; HbA2 level of 2.8% and HbF of 7%. Thus, the observed pattern of SCD in Sudan is comparable to the severe type described for Africans and not comparable to the benign form found in Shiite Moslem Arabs of Saudi Arabia. 6 adults with mild SCD had HbF levels below 5%. Amelioration of the disease, therefore, does not seem to be related to HbF levels; nor was it possible to relate it to high levels of erythrocyte 2,3-diphosphoglycerate.
 ...
PMID:Sickle cell disease in Sudan. 245 19

The prevalence of enuresis was determined by parental interview in Nigerian children with sickle cell anaemia and in age-matched controls without sickle haemoglobinopathy. There were a total of 209 subjects with sickle cell anaemia (SCA) in steady state and 200 controls of both sexes aged from 2 to 20 years. The prevalence of enuresis was 41.6 per cent in those with SCA and 18.5 per cent in the controls. In subjects who were 4 years or more the prevalences were 36.8 and 21 per cent, respectively. These differences were highly significant (P less than 0.001). There was a significant preponderance of males among enuretic control subjects (2.6 to 1) who were aged 4 years or more (P less than 0.05) which was not apparent in the sickle cell subjects at any age or in the controls below the age of 4 years.
 ...
PMID:Enuresis in sickle cell disease. I. Prevalence studies. 278 17

Forty-eight children, aged 5 to 15 years, were tested for their ability to raise and lower their index finger temperature with self-hypnosis and/or biofeedback. Group A (self-hypnosis only) and group B (self-hypnosis with biofeedback) were children who had previous successful experience with self-hypnosis (eg, for the treatment of enuresis, pain, asthma, or obesity). Group C (biofeedback only) were children with no experience with hypnosis. All three groups showed significant success with warming and cooling. The range of warming for the three groups was 0 to 3.7 F, and for cooling, 0 to 7.3 F or 0 to 8.8 F for attempts exceeding the ten-minute trial period. No significant difference in ability to warm or cool was noted when the children were compared by group, age, or sex. Some of the children in group A who had little or no success with hypnosis only were very successful with the addition of biofeedback monitoring, suggesting a synergistic effect between biofeedback and hypnosis. A significant temperature rise was also noted in groups A and B accompanying a neutral hypnotic induction relaxation-imagery exercise in which no mention of temperature change was made. This rise varied from 0 to 6 F, averaging 1.7 F. Possible therapeutic implications include the treatment of migraine headaches, Raynaud's syndrome, sickle cell anemia, and the use of temperature monitoring as a diagnostic and therapeutic adjunct to clinical hypnosis.
 ...
PMID:Self-hypnosis, biofeedback, and voluntary peripheral temperature control in children. 742 23

The prevalence of enuresis and management options for this condition were studied in our population of sickle cell patients. A total of 91 active patients (6 to 21 years old) followed at our regional sickle cell center was surveyed for the symptoms of primary nocturnal enuresis. Of the 91 patients 27 (29.6%) had primary nocturnal enuresis. Of those with enuresis 17 had homozygous sickle cell anemia, 5 had hemoglobin sickle cell disease, 4 had sickle cell beta + thalassemia and 1 had sickle cell beta zero-thalassemia. Of 10 patients who elected to receive intranasal desmopressin acetate 6 (60%) had complete or partial resolution of nocturnal enuresis. Our data confirm the high prevalence of nocturnal enuresis in patients with sickle cell disease and support the role of desmopressin acetate in the treatment of these patients.
 ...
PMID:Enuresis in sickle cell disease. 775 79

To assess the prevalence of nocturnal enuresis in children and adolescents with sickle cell disease (SCD) and associated factors, structured telephone interviews were conducted with primary caregivers of 217 children and adolescents with SCD aged 5 years or older. Prevalence, perceived causes, interventions undertaken, and emotional impact were assessed. Nocturnal enuresis was significantly higher for males (28.2% of males) than for females (11% of females), p = .002, and compared with cited population prevalence rates, nocturnal enuresis was significantly higher for children with SCD, p < .01. SCD was the most common reason given by primary caregivers for enuresis. Primary caregivers used a wide range of interventions for nocturnal enuresis, but few used empirically supported treatments for enuresis or spoke with their health care team about the enuresis. These data suggest that systematic assessment and intervention for nocturnal enuresis must be implemented in the follow-up care of children and adolescents with SCD.
 ...
PMID:Nocturnal enuresis in pediatric sickle cell disease. 1171 33

To evaluate current and lifetime prevalence rates of nocturnal enuresis and psychosocial problems among children with sickle cell disease (SCD) in comparison with sibling controls, a structured interview and the Pediatric Symptom Checklist were administered to primary caretakers regarding 126 of their children aged 5 to 17 with SCD and 47 sibling controls. Lifetime rates of enuresis among children with SCD were comparable to similar studies, and exceeded population prevalence and sibling control rates. In addition, enuretic children had higher levels of total psychosocial problems on the Pediatric Symptom Checklist regardless of group status, although patterns of subscale differences varied by group and enuresis history after controlling for child age. These findings replicate and extend previous findings and provide further evidence to support a need for monitoring of hydration levels and screening for psychosocial problems among children with SCD and enuresis, as well as evaluation of the psychometric properties of psychosocial screening measures and identification of efficacious treatments for enuresis in children with SCD.
 ...
PMID:Nocturnal enuresis and psychosocial problems in pediatric sickle cell disease and sibling controls. 1634 56

This review explores the current model of sickle cell nephropathy and the limitations of the model. Renal abnormalities are common complications of sickle cell disease (SCD). Beginning in childhood, patients with SCD develop a urinary concentrating defect resulting in polyuria and a predisposition to nocturnal enuresis and dehydration. The current model of sickle cell nephropathy suggests that destruction of the renal medulla induces production of renal vasodilating substances that feedback to the glomerulus causing hyperfiltration. Hyperfiltration leads to glomerulosclerosis and proteinuria, with eventual reduction in kidney function. The crucial steps of vasodilating substance production and hyperfiltration in children with SCD have not been proven. Treatment of sickle cell nephropathy is aimed at the reduction of proteinuria with angiotensin converting enzyme inhibitors or angiotensin receptor blockers. Hydroxyurea and chronic transfusion therapy may also alter the progression of sickle cell nephropathy in children. Further studies are needed to identify an accurate model and effective treatments for sickle cell nephropathy.
 ...
PMID:Sickle cell nephropathy: challenging the conventional wisdom. 2120 78

Sickle cell anemia is one of the best studied inherited diseases, and despite being caused by a single point mutation in the HBB gene, multiple pleiotropic effects of the abnormal hemoglobin S production range from vaso-occlusive crisis, stroke, and pulmonary hypertension to osteonecrosis and leg ulcers. Urogenital function is not spared, and although priapism is most frequently remembered, other related clinical manifestations have been described, such as nocturia, enuresis, increased frequence of lower urinary tract infections, urinary incontinence, hypogonadism, and testicular infarction. Studies on sickle cell vaso-occlusion and priapism using both in vitro and in vivo models have shed light on the pathogenesis of some of these events. The authors review what is known about the deleterious effects of sickling on the genitourinary tract and how the role of cyclic nucleotides signaling and protein kinases may help understand the pathophysiology underlying these manifestations and develop novel therapies in the setting of urogenital disorders in sickle cell disease.
 ...
PMID:Sickling cells, cyclic nucleotides, and protein kinases: the pathophysiology of urogenital disorders in sickle cell anemia. 2274 2

In this study, we aimed to investigate the prevalence and associated factors of nocturnal enuresis in sickle cell disease (SCD) and thalassemia major (TM) patients in a single center from Turkey. One hundred and six patients, 51 (48.1 %) with TM and 55 (51.9 %) with SCD, and 80 age-matched healthy controls were included in the study. Semi-structured interviews were conducted with the caregivers of pediatric and adult patients. The interview included questions on nocturnal enuresis and psychosocial variables. Patients' hospital files were reviewed to search for disease-related factors. Twenty-eight of the patients (26.4 %) and three (3.7 %) of the controls had nocturnal enuresis. Younger age, TM diagnosis, family history of nocturnal enuresis and family problems were found to be more frequent in patients with nocturnal enuresis. Among the patients with SCD, frequencies of hospitalization and painful crises were found to be higher in those with enuresis. According to the binary logistic regression analysis, diagnosis of TM (p = 0.031, OR = 0.262) and younger age (p = 0.005, OR = 0.869) were found to be independent risk factors for nocturnal enuresis in the patient group. Nocturnal enuresis is a common problem in children and young adults with TM and SCD. Associated factors in both conditions will be clarified with future studies.
 ...
PMID:Nocturnal enuresis in sickle cell disease and thalassemia major: associated factors in a clinical sample. 2401 63


1 2 Next >>