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)

Using the recent developments of molecular biology techniques, our laboratory is offering carrier and prenatal diagnosis for a variety of genetic disorders including cystic fibrosis, phenylketonuria, thalassaemia alpha and beta, sickle cell anaemia, myotonic dystrophy, von Recklinghausen's disease, autosomal polycystic kidney disease, haemophilia A and B, Martin-Bell syndrome (fragile X), Becker and Duchenne muscular dystrophy, etc. It is likely that the rapid advances made in the establishment of the human genetic map will considerably expand the spectrum of diseases for which diagnosis by molecular genetics will become available.
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PMID:[Molecular and diagnostic genetics]. 219 51

Hyphema (blood in the anterior chamber) can occur after blunt or lacerating trauma, after intraocular surgery, spontaneously (e.g., in conditions such as rubeosis iridis, juvenile xanthogranuloma, iris melanoma, myotonic dystrophy, keratouveitis (e.g., herpes zoster), leukemia, hemophilia, von Willebrand disease, and in association with the use of substances that alter platelet or thrombin function (e.g., ethanol, aspirin, warfarin). The purpose of this review is to consider the management of hyphemas that occur after closed globe trauma. Complications of traumatic hyphema include increased intraocular pressure, peripheral anterior synechiae, optic atrophy, corneal bloodstaining, secondary hemorrhage, and accommodative impairment. The reported incidence of secondary anterior chamber hemorrhage, that is, rebleeding, in the setting of traumatic hyphema ranges from 0% to 38%. The risk of secondary hemorrhage may be higher in African-Americans than in whites. Secondary hemorrhage is generally thought to convey a worse visual prognosis, although the outcome may depend more directly on the size of the hyphema and the severity of associated ocular injuries. Some issues involved in managing a patient with hyphema are: use of various medications (e.g., cycloplegics, systemic or topical steroids, antifibrinolytic agents, analgesics, and antiglaucoma medications); the patient's activity level; use of a patch and shield; outpatient vs. inpatient management; and medical vs. surgical management. Special considerations obtain in managing children, patients with hemoglobin S, and patients with hemophilia. It is important to identify and treat associated ocular injuries, which often accompany traumatic hyphema. We consider each of these management issues and refer to the pertinent literature in formulating the following recommendations. We advise routine use of topical cycloplegics and corticosteroids, systemic antifibrinolytic agents or corticosteroids, and a rigid shield. We recommend activity restriction (quiet ambulation) and interdiction of non-steroidal anti-inflammatory agents. If there is no concern regarding compliance (with medication use or activity restrictions), follow-up, or increased risk for complications (e.g., history of sickle cell disease, hemophilia), outpatient management can be offered. Indications for surgical intervention include the presence of corneal blood staining or dangerously increased intraocular pressure despite maximum tolerated medical therapy, among others.
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PMID:Management of traumatic hyphema. 1268 17

Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening, hereditary disease. The prevalence of ADPKD is more common than Huntington disease, haemophilia, sickle cell disease, cystic fibrosis, myotonic dystrophy and Down syndrome combined. In recent years there have not only been advances in the understanding of the genetic and molecular events involved in ADPKD, but some diagnostic and therapeutic advances have also emerged. In the genetics area, the gene for PKD1 was localised to chromosome 16, is associated with polycystin-2 protein, and found to account for approximately 85% of patients with ADPKD. The gene for PKD2, found in chromosome 4, accounts for approximately 15% of ADPKD, and is associated with the polycystin-2 protein. While these genetic and molecular biology findings have stimulated a great deal of exciting basic research in ADPKD, therapies to decrease morbidity and mortality in ADPKD patients have yet to emerge from these findings. In contrast, the early diagnosis and treatment of hypertension with inhibitors of the renin-angiotensin-aldosterone system have the potential to decrease or prevent left ventricular hypertrophy cardiac complications and slow the progression of the renal disease.
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PMID:Optimal care of autosomal dominant polycystic kidney disease patients. 1688 82

Polycystic kidney diseases (autosomal dominant and autosomal recessive) are progressive renal tubular cystic diseases, which are characterised by cyst expansion and loss of normal kidney structure and function. Autosomal dominant polycystic kidney disease (ADPKD) is the most common life- threatening, hereditary disease. ADPKD is more prevalent than Huntington's disease, haemophilia, sickle cell disease, cystic fibrosis, myotonic dystrophy and Down's syndrome combined. Early diagnosis and treatment of hypertension with inhibitors of the renin-angiotensin-aldosterone system (RAAS) and its potential protective effect on left ventricular hypertrophy has been one of the major therapeutic goals to decrease cardiac complications and contribute to improved prognosis of the disease. Advances in the understanding of the genetics, molecular biology and pathophysiology of the disease are likely to facilitate the improvement of treatments for these diseases. Developments in describing the role of intracellular calcium ([Ca(2+)](i)) and its correlation with cellular signalling systems, Ras/Raf/mitogen extracellular kinase (MEK)/extracellular signal-regulated protein kinase (ERK), and interaction of these pathways with cyclic adenosine monophosphate (cAMP) levels, provide new insights on treatment strategies. Blocking the vasopressin V(2) receptor, a major adenylyl cyclase agonist, demonstrated significant improvements in inhibiting cytogenesis in animal models. Because of activation of the mammalian target of rapamycin (mTOR) pathway, the use of sirolimus (rapamycin) an mTOR inhibitor, markedly reduced cyst formation and decreased polycystic kidney size in several animal models. Caspase inhibitors have been shown to decrease cytogenesis and renal failure in rats with cystic disease. Cystic fluid secretion results in cyst enlargement and somatostatin analogues have been shown to decrease renal cyst progression in patients with ADPKD. The safety and efficacy of these classes of drugs provide potential interventions for experimental and clinical trials.
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PMID:Potential pharmacological interventions in polycystic kidney disease. 1803 88

The current status of predictive genetic testing for late-onset hereditary neurological diseases in Japan is largely unknown. In this study, we analyzed data from 73 clients who visited the Division of Clinical and Molecular Genetics, Shinshu University Hospital, for the purpose of predictive genetic testing. The clients consisted of individuals with family histories of familial amyloid polyneuropathy (FAP; n=30), Huntington's disease (HD; n=16), spinocerebellar degeneration (SCD; n=14), myotonic dystrophy type 1 (DM1; n=9), familial amyotrophic lateral sclerosis type 1 (ALS1; n=3), and Alzheimer's disease (AD; n=1). Forty-nine of the 73 (67.1%) clients were in their twenties or thirties. Twenty-seven of the 73 (37.0%) clients visited a medical institution within 3 months after becoming aware of predictive genetic testing. The most common reason for requesting predictive genetic testing was a need for certainty or to reduce uncertainty and anxiety. The decision-making about marriage and having a child was also a main reason in clients in the twenties and thirties. The numbers of clients who actually underwent predictive genetic testing was 22 of 30 (73.3%) in FAP, 3 of 16 (18.8%) in HD, 6 of 10 (60.0%) in SCD, 7 of 9 (77.8%) in DM1, and 0 of 3 (0%) in ALS1 (responsible gene of the disease was unknown in 4 SCD patients and an AD patient). The percentage of test usage was lower in untreatable diseases such as HD and SCD than that in FAP, suggesting that many clients changed their way of thinking on the significance of testing through multiple genetic counseling sessions. In addition, it was obvious that existence of disease-modifying therapy promoted usage of predictive genetic testing in FAP. Improvement of genetic counseling system to manage predictive genetic testing is necessary, as consultation concerning predictive genetic testing is the main motivation to visit genetic counseling clinic in many at-risk clients.
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PMID:[Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital]. 2352 99

A follow-up nationwide survey on predictive genetic testing for late-onset neurological diseases in Japan was conducted. A questionnaire was sent to 89 institutional members of the Japan's National Liaison Council for Clinical Sections of Medical Genetics, and was returned by 60 (67.4%). A total of 301 clients with an interest in predictive testing were accumulated from April 2006 to March 2011. The greatest interest was shown for spinocerebellar degeneration (SCD, n=110), followed by myotonic dystrophy type 1 (DM1, n=69), Huntington's disease (HD, n=52) and familial amyloid polyneuropathy (FAP, n=35). The ratios of clients who actually underwent predictive testing were: SCD, 21.8%; DM1, 39.1%; HD, 26.9%; and FAP, 74.3%, indicating that predictive testing was conducted very cautiously for untreatable neurological diseases in Japan. Clinical geneticists were predominantly involved in genetic counseling, whereas the participation of non-medical doctor (non-MD) staff, including nurses, clinical psychologists and genetic counselors, was not common. Lack of non-MD counseling staff was one of the most serious issues in conducting predictive testing, which has not been improved since the previous survey performed in 2006. Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue.
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PMID:Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan. 2363 52

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.
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PMID:Maternal genetic disorders and fetal development. 3201 Sep 84