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

Since June 1990, five girls and one boy have been evaluated for biliary colic. Gallstones were documented by sonography. Two girls, ages 8 and 14 years, had hereditary spherocytosis, and a 9-year-old boy had sickle cell disease. The other three girls, ages 13, 13, and 15 years, developed cholelithiasis and biliary colic without a history of hematological disease. Three children weighed less than 90 lb, with the smallest weighing 45 lb. All patients underwent laparoscopic cholecystectomy without complications. Operative cholangiography was performed in five of the six children. The KTP-532 laser was used for dissection of the gallbladder from the liver bed in two patients, and electrocautery was used in the remaining four. The average operating time was 1 hour 45 minutes. This is a report of the use of laparoscopic cholecystectomy in pediatric patients. The advantages of its use include a shorter hospitalization, decreased postoperative discomfort, and a much shorter interval between the surgical procedure and return to normal activities such as school and play. At this time, it is recommended for those children without complications from their cholelithiasis such as common duct obstruction and gallstone pancreatitis.
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PMID:Laparoscopic cholecystectomy in the pediatric patient. 183 14

Continuous-flow blood fraction separators facilitate the efficient exchange of large volumes of plasma or red cells and therefore have clinical application in the rapid correction of abnormalities located predominantly in either of these compartments. Plasmapheresis has been successfully used in managing 2 patients with previously refractory myasthenia gravis, in reducing the antibody titre in a rhesus-sensitized woman, and in diminishing anti-A titre in a patient requiring bone marrow transplantation from an ABO-incompatible but HLA- and MLC-identical sibling. Continuous-flow red cell exchange effectively reduced the haemoglobin S concentration in an individual with sickle cell disease prior to general anaesthesia and abdominal surgery. Complications were not encountered although the procedures were carried out repetitively over prolonged periods of time. All 5 patients tolerated their exchanges without discomfort. As with any new and expensive technique, caution should attend the introduction of continuous-flow plasma or red cell exchange into clinical medicine. Careful evaluation of the safety and the benefits is needed to establish perspective and to distinguish between established and developmental indications.
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PMID:The role of continuous-flow blood fraction separators in clinical practice. 677 86

Butyrate analogues have been shown to increase fetal hemoglobin (HbF) production in vitro and in vivo. Sodium phenylbutyrate (SPB), an oral agent used to treat individuals with urea-cycle disorders, has been shown to increase HbF in nonanemic individuals and in individuals with sickle cell disease. We have treated eleven patients with homozygous beta thalassemia (three transfusion dependent) and one sickle-beta-thalassemia patient with 20 g/d (forty 500-mg tablets) of SPB for 41 to 460 days. All patients showed an increase in the percent of F reticulocytes associated with treatment, but only four patients responded by increasing their Hb levels by greater than 1 g/dL (mean increase, 2.1 g/dL; range, 1.2 to 2.8 g/dL). None of the transfusion-dependent thalassemia subjects responded. Increase in Hb was associated with an increase in red blood cell number (mean increase, 0.62 x 10(12)/L), and mean corpuscular volume (mean increase, 6 fL). Changes in percent HbF, absolute HbF levels, or alpha- to non-alpha-globin ratios as measured by levels of mRNA and globin protein in peripheral blood did not correlate with response to treatment. Response to treatment was not associated with the type of beta-globin mutation, but baseline erythropoietin levels of greater than 120 mU/mL was seen in all responders and only two of eight nonresponders to SPB. Compliance with treatment was greater than 90% as measured by pill counts. Side effects of the drug included weight gain and/or edema caused by increase salt load in 2/12, transient epigastric discomfort in 7/12, and abnormal body odor in 3/12 subjects. Two splenectomized patients who were not on prophylactic antibiotics developed sepsis while on treatment. We conclude that SPB increases Hb in some patients with thalassemia, but the precise mechanism of action is unknown.
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PMID:Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. 752 72

We have studied responses evoked in the forearm vasculature of twelve subjects with homozygous sickle cell disease (SS) and in eight dark-skinned controls of West Indian ancestry (AA) by mild cooling of the contralateral hand in water at 16 degrees C for 2 min; this stimulus was repeated six times at randomized time intervals. Total forearm blood flow was measured by venous occlusion plethysmography, cutaneous red cell flux was monitored by a laser Doppler flowmeter and arterial pressure was recorded by semi-automatic sphygmomanometry. Of the AA subjects, three showed a decrease in total forearm vascular resistance (FVR, of -10%) in response to the first immersion and this reversed to an increase in FVR (+7%) by the sixth immersion. The remaining five showed an increase in FVR (+65%) which persisted until the sixth immersion (26%). By contrast, all SS subjects showed an increase in FVR (+32%) which persisted to the sixth stimulus (+27%). Further, on a scale of discomfort of 0-10, none of the AA subjects rated the cool stimulus higher than 0, whereas SS subjects gave a rating of 7 for the first stimulus which decreased to 5 by the sixth stimulus. Both AA and SS subjects showed an increase in arterial pressure and a tendency towards vasoconstriction in forearm skin. We propose that, as in Caucasian AA subjects, dark-skinned AA subjects showed a primary reflex vasoconstriction in forearm muscle in response to mild, indirect cooling which was overcome in some individuals by muscle vasodilation of the alerting response that is evoked by novel or noxious stimuli.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:A comparative study in subjects with homozygous sickle cell disease and in normal subjects of responses evoked in forearm vasculature by mild, indirect cooling. 805 35

Medical and surgical advances have improved the treatment of cholelithiasis (ie, gallstones) in children with sickle cell disease (SCD). Children with SCD have an increased risk of developing pigment gallstones that initially may be asymptomatic but that can lead to acute symptoms of cholelithiasis. An elective laparoscopic cholecystectomy procedure is recommended for pediatric patients with SCD to prevent the risk of requiring an emergency cholecystectomy procedure. The primary benefits of this approach include a shorter hospital stay after surgery, decreased postoperative discomfort, decreased risk of complications, and a quicker return to normal activities.
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PMID:Treatment of cholelithiasis in children with sickle cell disease. 1281 41

We reviewed several cost-effectiveness analyses that modelled the costs and yield of newborn screening for sickle cell disease (SCD) in the US and the UK and discuss the ways in which newborn screening policies in each country evolved with regard to the results of the analyses. Each of the reviewed studies compared the projected cost of universal screening with that of selective screening of children from specific ethnic groups. Despite variability in assumptions, the studies concurred that universal screening in areas with low SCD prevalence would result in a higher cost per case detected, compared with selective screening of children in high-risk ethnic groups. Investigators expressed differing opinions about the economic justification of universal screening, which reflected differences in the understanding of cost effectiveness and in how study questions were framed. Ultimately, policy makers in both countries decided in favour of universal screening, which appears to reflect a growing consensus that ethnically targeted newborn screening is not an acceptable public health strategy. One way to interpret this outcome is that considerations of equity and logistics, including potential stigmatisation, missed cases, and the perceived difficulty and discomfort in ascertaining ethnicity or in separating specimens, trumped economic calculations regarding the relative efficiency of targeted screening. It is not the case that policy makers explicitly favoured equity over economic optimisation; rather, they appear to have given more credence and value to the expert opinion of screening specialists than to the results of economic analyses.
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PMID:The cost effectiveness of universal versus selective newborn screening for sickle cell disease in the US and the UK: a critique. 1646 75

The objective of this study was to determine the feasibility of protocol-driven human recombinant hyaluronidase (rHuPH20)-enhanced subcutaneous (SC) hydration and opioid administration in adults presenting to the emergency department (ED) with sickle cell disease acute pain episodes (SCDAPE). Adults with SCDAPE were given 150 U of rHuPH20 and normal saline subcutaneously. Opioids were administered SC every 15 minutes for 4 hours until numerical rating scale (NRS) pain intensity scores fell to <5, or Ramsay Sedation Scores were >4. Pain intensity and pain relief were recorded hourly. Total morphine equivalents and fluid volume, total pain relief (TOTPAR), patient- and physician-perceived global efficacy, patient-perceived global SC needle discomfort, physician-rated ease of needle placement, and adverse effects were noted. Ten patients (6 males, 4 females), mean age 32.9 years (23-56 years) completed the trial. Mean pain intensity scores fell 25% (from 9.2 to 6.9) from baseline and mean 4-hour TOTPAR score was 4 (maximum: 16). A mean total of 119 mg (70-170 mg) morphine equivalents and 846 mL (200-1650 mL) normal saline were administered. Mean patient and physician global perceived efficacy ratings were 3.4 and 4.2 (of 5). Patient global discomfort of SC needle presence was 2.7 (of 10), and ease of needle placement was physician rated at 4 (of 4; easiest). Patients experienced mild swelling and stinging at the SC site, and no infusion required discontinuation. The authors conclude that rHuPH20-enhanced subcutaneous hydration and opioid administration appear feasible from this pilot study. These results need confirmation in a controlled clinical trial.
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PMID:Pilot study of human recombinant hyaluronidase-enhanced subcutaneous hydration and opioid administration for sickle cell disease acute pain episodes. 2352 66

Salter-Harris type I fractures of the distal tibia are commonly seen in paediatrics and management of such fractures follows an algorithm established in the literature. Despite this, osteonecrosis of the distal tibia can subsequently develop. Osteonecrosis or avascular necrosis is cell death that occurs secondary to trauma, metabolic disturbances, sickle cell disease, or medication side effect. It most frequently affects the femur, talus, or humerus, and rarely the tibia. Radiographs and MRI are pivotal in making a timely diagnosis in order to minimize patient discomfort. To the best of our knowledge, there has only been one previous documented case of osteonecrosis following a Salter Harris Type I distal tibial fracture. Here, we present the second such case.
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PMID:Pathogenesis And Radiological Findings In Rare Case Of Salter Harris Type I Distal Tibial Fracture With Associated Osteonecrosis In The Paediatric Population. 3046 86

Safety lancets are used to collect capillary blood samples to test if neonates have rare but serious congenital conditions, such as sickle cell disease, cystic fibrosis, congenital hypothyroidism and inherited metabolic diseases. Blood samples are taken from the heel, but the procedure can cause the neonate pain or discomfort, as well as a risk of local trauma to the nerves and blood vessels, bleeding, infection and scarring. This article explores the need for blood sampling in neonates, discusses the procedure and outlines the types of lancets available. It describes the Neoheel Safety Lancet (Smiths Medical), whose features are designed to avoid pain and trauma during the procedure. Three case studies are included to describe its use in clinical practice.
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PMID:A safety lancet for neonatal blood spot tests: a design that facilitates pain-free, atraumatic samples. 3067 11

BACKGROUND Priapism is rarely reported as a potential complication after the cardiac ablation procedure. We report the case of a teenager admitted for atrial flutter ablation who developed priapism following the procedure. CASE REPORT A 16-year-old male with episodic atrial flutter came to our hospital for an electrophysiological study and catheter ablation. During the procedure, he was given IV propofol for anesthesia and IV heparin for anticoagulation. After the procedure, nursing noted that he had an erection, which persisted for 5 h, with complaints of discomfort. There was no known history of sickle cell disease or trauma to the perineum, nor did he endorse any prior prolonged erections. On physical examination, he had a circumcised phallus with rigid and non-tender corpora cavernosa. He was given 5 mg terbutaline PO, without improvement. Three hours later, a second dose of terbutaline was given. In addition, a penis corporal venous blood gas was taken, and the result was consistent with an ischemic priapism. He had detumescence 1-2 min later. The total duration of his priapism was 8 h. There was no swelling, pain, or any sequelae after detumescence. CONCLUSIONS Although priapism rarely occurs as a complication following catheter ablation procedures due to propofol use, prolonged priapism can result in corporal fibrosis and cause future erectile dysfunction. Recognition and treatment of priapism in the postoperative period may be delayed due to a patient's hesitance to express concerns. To prevent future erectile dysfunction, signs of priapism should be included in routine postoperative evaluation in male patients.
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PMID:Possible Propofol-Induced Priapism Following Cardiac Catheter Ablation in a Teenager. 3224 1


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