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)

Even in the absence of gallstones, the hepatobiliary system should be suspected as a possible cause of pruritus in a patient with sickle cell disease. A case is presented in which a sickle cell patient had severe pruritus relieved by cholestyramine therapy.
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PMID:Pruritus in sickle cell disease: response to cholestyramine. 86 72

Otorhinolaryngological manifestations of 13 patients with von Recklinghausen's disease appearing at Lagos University Teaching Hospital over a five-year period have been studied. Among patients with ENT manifestations of the disease, the most common general features exhibited were cutaneous neurofibromas (100 per cent), headache (69.23 per cent) and pruritus (46.15 per cent). But the head and neck findings included external meatal canal stenosis (30.77 per cent), conductive deafness (30.77 per cent), nasal discharge (30.77 per cent), cranial nerve involvement (30.77 per cent) and disfigurement of the soft tissues of the face (30.77 per cent). Involvement of pinna (23.31 per cent), rhinolalia aperta (15.38 per cent), mental retardation (15.38 per cent) and pharyngeal swelling (7.69 per cent) also featured. Clinically detectable bilateral acoustic neurofibromas in adults or astrocytomas in children were not found in this series. Involvement of the frontoparietal bone (7.65 per cent) presented with skull bossing which had to be differentiated from that due to sickle cell disease in the African. There was also a singular case of phrenic nerve involvement. However, malignancy occurred in one (7.69 per cent) of these patients. Thus, it is important always to follow-up these patients closely so as to detect malignant transformation in time.
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PMID:Otorhinolaryngological manifestations of von Recklinghausen's disease in Nigerians. 308 May 40

Sickle cell disease has varied manifestations in all systems of the body, ocular manifestations can be severe and sudden blindness may result amidst other complications. The study aims at determining the ocular findings in patients with sickle cell anaemia (HbSS) and sickle cell haemoglobin C disease (HbSC). 99 subjects were recruited into the study carried out at the Lagos University Teaching Hospital over a 2 year period. A structured interview questionnaire was administered and physical examination was carried out at the Medical Out Patients' Sickle Cell Clinics. Subsequently in the (Guinness) Eye centre, examination for ocular manifestations was carried out using Snellen's chart, Slit light microscopy, direct and indirect ophthalmoscopy under mydriasis (with Gutt Tropicamide 1% , epinephrine 10% ) as well as tonometry and gonioscopy. The age of the 99 (51 males, 48 females) patients ranged from 13 to 43 years with a mean +/-SD of 20.42 +/- 6.13. There were 88 (88.9% ) SS and 11 (11.1% ) SC patients. The male to female ratio was 1.1: 1. Normal vision was present in 95 (96% ) of the patients [86 (97.8% ) SS and 9 (81.8% ) SC] while 4 (4.0% ) of the patients [2 (2.2% ) SS and 2 (18.2% ) SC] had impaired vision. Of the complaints, blurred vision was found in 12 (13.6% ) SS and one (9.0% ) SC patients. Itching of the eyes was found in 15 (17.0% ) SS and 3 (27.3% ) SC patients. Icterus was found in 50 (50.5% ), conjunctival signs were found in 49 (49.5% ), retinal vascular tortuosity was in 12 (12 .10% ), peripheral retinal degeneration was in 5 (5% ), iridescent spots was in 3 (3% ) and optic atrophy in 2 (2% ) patients. The tortuosity of major fundus vessels were graded into 4 according to Hook and Cooper's criteria 87 (87.9% ) of the patients were in grade 0. The conjunctival vessels anomalies were classified into 5 grades (criteria of Sergeant). 37 (37.5% ) were in grade 0, 35 (35.3% ) in grade 1, 8 (8.1% ) in grade 2, 7 (7.1% ) in grade 3 and 12 (12.1% ) in grade 4. Conjunctival abnormalities occur commonly while proliferative retinopathy and optic atrophy were uncommon in sickle cell disease patients in Lagos. Further studies are required with a larger number of subjects to investigate the low incidence of proliferative retinopathy and optic atrophy in Lagos.
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PMID:Ocular findings in sickle cell disease patients in Lagos. 1550 51

A 38-year-old Ghanaian man presented with a 6-month history of worsening pruritus, jaundice, and ascites. He was previously fit and well and rarely drank alcohol. Screening tests for chronic liver disease including viral, autoimmune, and other metabolic causes including iron overload were unremarkable. A liver biopsy performed at the referring hospital demonstrated intralobular cholestasis and cirrhosis. He was listed for liver transplantation but subsequently developed sepsis with multiple organ failure and died. The sickle solubility test was positive. Blood smear showed cells consistent with liver failure and no sickle cells. Hemoglobin electrophoresis revealed HbA2 2.8%, HbF 0.5%, and HbS greater than HbA (49.6% vs. 41.3%) in the absence of blood transfusion. Sequence analysis of the beta-globin genes showed he was a compound heterozygote for the Hbs mutation at codon 6 (CAG --> GTG) and a novel mutation at position 844 of intron 2 (betaIVS2-844 C --> A). A diagnosis of sickle hepatopathy causing decompensated cirrhosis was made. This case is unusual insomuch as this patient was asymptomatic for over 35 years and represents a novel presentation of sickle cell disease. Sickle cell disease should be considered in appropriate patients when unusual presentations of liver disease arise.
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PMID:Sickle liver disease--an unusual presentation in a compound heterozygote for HbS and a novel beta-thalassemia mutation. 1756 24

Patients with sickle cell disease experience painful crises that often require hospitalization for a continuous infusion of morphine that may cause significant pruritus. We conducted a pilot study to determine the feasibility of simultaneous continuous co-infusion of naloxone with morphine, test novel assessment instruments for pruritus, and explore whether pruritus could be reduced while maintaining effective analgesia. Patients with sickle cell disease and painful crisis requiring continuous infusion morphine received continuous co-infusion of naloxone at 0.25 (low dose) or 1.0 mcg/kg x hr (high dose). Pain scores were obtained using the FACES scale and a 100-mm visual analog scale (VAS). Itching was quantified by a modified VAS score. Evaluable data were obtained on 16 patients. Simultaneous co-infusion of naloxone and morphine was feasible, did not seem to reduce the analgesic efficacy of morphine, and was associated with no adverse effects. The high dose group reported a lower median "VAS worst itch" score than the low dose group (4.8 vs. 7.3, P = 0.08). Simultaneous continuous infusion of naloxone with morphine in pediatric patients with sickle cell disease and pain crisis was feasible and well tolerated. A quantitative pruritus score allowed us to systematically measure pruritus. Further evaluation by randomized, placebo-controlled study of 1 mcg/kg x hr naloxone in this setting is required.
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PMID:Pilot study of continuous co-infusion of morphine and naloxone in children with sickle cell pain crisis. 1854 45

Sclerosing cholangitis is a rare progressive cholestatic liver disease affecting the biliary tract. It may be associated with other diseases including autoimmune hepatitis, immunodeficiencies, cystic fibrosis, and sickle cell disease. Sclerosing cholangitis not associated with other diseases is termed "primary sclerosing cholangitis," which has a strong association with male gender, Caucasian race, and inflammatory bowel disease. Diagnosis is based on typical biochemical, radiologic, and histologic features. Medical management is directed mainly at managing complications (pruritus, cholangitis, strictures, and nutritional deficiencies). Administration of ursodeoxycholic acid results in biochemical improvement, but has not been proven to prolong transplant-free survival. Patients with autoimmune overlap respond to immunosuppression. The disease is typically progressive and evolves to biliary cirrhosis and possibly cholangiocarcinoma. Orthotopic liver transplantation remains the only life-extending alternative for patients with sclerosing cholangitis, with good long-term patient and graft survival, and recurrent graft primary sclerosing cholangitis in about 10% of children.
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PMID:Sclerosing cholangitis: pediatric perspective. 2042 75

Sickle-cell disease (SCD) patients are at high risk of developing malaria which is a major contributor to morbidity and mortality in this disease. In Senegal, malaria transmission is high during rainy season, between July and October, and it was noted that sickle-cell crisis are frequent during this period. Then we carried out a double-blind randomized controlled trial to compare the impact of monthly sulfadoxine-pyrimethamine (SP) during the high-transmission season versus placebo on malaria incidence and morbidity of sickle-cell anemia. Sixty (60) SCD patients were randomized either to receive three intermittent preventive treatment (ITP) with SP or placebo using the random permutation table with nine elements. The drug was administrated as follows: sulfadoxine 25 mg/kg and pyrimethamine 1.25 mg/kg and this treatment was given once during the following months: September, October, and November. Overall four episodes of malaria disease were diagnosed, all these cases in the placebo arm. Thus, overall prevalence was 6.6% and there was no other case of malaria in the SP arm during the study period. Parasitological diagnosis confirmed the presence of Plasmodium falciparum in all four cases. No patient death was encountered during the study. SP treatment was well tolerated as only one patient (1.6%) in the SP arm reported pruritus. A significant reduction of patients' complaints (p = 002) and blood requirements (p = 0.001) was noted in the SP group; whereas, no impact was observed on vaso-occlusive crisis and hospitalization occurrence. Malaria prophylaxis by monthly intake of SP during the transmission period of the parasite reduced the prevalence of malaria and was safe in SCD patients leaving in malaria endemic area.
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PMID:Sickle-cell disease and malaria: evaluation of seasonal intermittent preventive treatment with sulfadoxine-pyrimethamine in Senegalese patients-a randomized placebo-controlled trial. 2069 69

Mast cells are best recognized for their role in allergy and anaphylaxis, but increasing evidence supports their role in neurogenic inflammation leading to pain and itch. Mast cells act as a "power house" by releasing algogenic and pruritogenic mediators, which initiate a reciprocal communication with specific nociceptors on sensory nerve fibers. Consequently, nerve fibers release inflammatory and vasoactive neuropeptides, which in turn activate mast cells in a feedback mechanism, thus promoting a vicious cycle of mast cell and nociceptor activation leading to neurogenic inflammation and pain/pruritus. Mechanisms underlying mast cell differentiation, activation, and intercellular interactions with inflammatory, vascular, and neural systems are deeply influenced by their microenvironment, imparting enormous heterogeneity and complexity in understanding their contribution to pain and pruritus. Neurogenic inflammation is central to both pain and pruritus, but specific mediators released by mast cells to promote this process may vary depending upon their location, stimuli, underlying pathology, gender, and species. Therefore, in this review, we present the contribution of mast cells in pathological conditions, including distressing pruritus exacerbated by psychologic stress and experienced by the majority of patients with psoriasis and atopic dermatitis and in different pain syndromes due to mastocytosis, sickle cell disease, and cancer.
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PMID:Mast cell-neural interactions contribute to pain and itch. 2943 Dec 16

The chronic use of hydroxyurea (HU) in some oncologic and non-oncologic diseases (psoriasis, sickle cell anemia) can be accompanied by side effects, both systemic and mucocutaneous. The most severe adverse events known in HU therapy are leg ulcers and cutaneous carcinomas. At skin level may also appear: xerosis, persistent pruritus, skin color changes (erythema, hyperpigmentation), cutaneous atrophy. Likewise, oral ulcerations and stomatitis may occur at mucosal level. Hair damage can be expressed through alopecia and nail damage through melanonychia and oncycholysis. First case, a 63-year-old woman with severe psoriasis vulgaris and chronic granulocytic leukemia, with 5 years of HU therapy, was admitted to hospital for submammary and palmoplantar ulcers, superinfected with methicillin-resistant Staphylococcus aureus and Proteus mirabilis. Clinical exam showed that the patient had also cutaneous atrophy, marked palmoplantar xerosis and melanonychia. The second case, a 72-year-old woman with primary thrombocytemia, treated with HU for 3 years, presented with necrotic leg ulcers that were superinfected with Pseudomonas aeruginosa, Enterobacter and E. Coli. The patient associates cellulitis, microbial eczema and xeroderma. In both cases, after HU discontinuation, systemic antibiotics, topical epithelizing agents and emollients, the ulcers had a slow favorable evolution. In our cases, the ulcers appeared after 5, respectively 3 years of HU therapy. It is stressed that in the first case, which had associated psoriasis, after 1 year of 1 g of HU/day, the psoriatic lesions completely disappeared. The severe progression of the ulcers was also favored by the superinfection of the ulcers with 2, respectively, 3 identified germs for which appropriate systemic antibiotics was required.
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PMID:Hydroxyurea-induced superinfected ulcerations: Two case reports and review of the literature. 3310 81