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Find sources: "Legg–Calvé–Perthes disease" – news · newspapers · books · scholar · JSTOR ( July 2014 ) ( Learn how and when to remove this template message ) Legg–Calvé–Perthes syndrome Other names Perthes disease or Legg–Perthes disease Radiograph of a person with Legg–Calvé–Perthes disease Pronunciation / ˈ l ɛ ɡ k æ l ˈ v eɪ ˈ p ɜːr t iː z , k ɑː l -, - t ɪ z / Specialty Orthopedics Symptoms Pain in the hip, knee, ankle (hip pathology can refer pain to a normal knee or ankle), or groin.
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it.
A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. Epidemiology Reported annual incidences vary greatly, from 1/250,000 in Hong Kong and 1/18,000 in the UK, to 1/3,500 in the Faroe Islands. Legg-Calvé-Perthes disease (LCPD) affects children between 2 and 12 years of age, but it is more prevalent among children of 5-6 years, and more common in boys. Clinical description The initial symptoms are usually a limping gait, pain in the hip, thigh or knee, and a reduced range of hip motion. Later in the disease course, leg length discrepancy, as well as atrophy of musculature around the hip can be observed.
A number sign (#) is used with this entry because of evidence that Legg-Calve-Perthes disease (LCPD), a form of avascular necrosis of the femoral head (ANFH; see 608805) in growing children, is caused by heterozygous mutation in the COL2A1 (120140) on chromosome 12q13. Description Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
Overview Legg-Calve-Perthes (LEG-kahl-VAY-PER-tuz) disease is a childhood condition that occurs when blood supply to the ball part (femoral head) of the hip joint is temporarily interrupted and the bone begins to die. This weakened bone gradually breaks apart and can lose its round shape. The body eventually restores blood supply to the ball, and the ball heals. But if the ball is no longer round after it heals, it can cause pain and stiffness. The complete process of bone death, fracture and renewal can take several years.
Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die. LCPD usually occurs in children between the ages of 4 and 10. Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of hip motion. Later in the disease course, there may be leg length discrepancy (one leg longer than the other) and wasting of the muscles around the hip. The condition can last for several years before new bone formation (re-ossification) and eventual healing occurs.
Dependence Concepts Physical dependence Psychological dependence Withdrawal Disorders Drugs Alcoholism Amphetamine Barbiturate Benzodiazepine Caffeine Cannabis Cocaine Nicotine Opioid Non-drug stimuli Tanning dependence Treatment and management Detoxification Alcohol detoxification Drug detoxification Behavioral therapies Cognitive behavioral therapy Relapse prevention Contingency management Community reinforcement approach and family training Motivational enhancement therapy Motivational interviewing Motivational therapy Physical exercise Treatment programs Drug rehab Residential treatment center Heroin-assisted treatment Intensive outpatient program Methadone maintenance Smoking cessation Nicotine replacement therapy Tobacco cessation clinics in India Twelve-step program Support groups Addiction recovery groups List of twelve-step groups Harm reduction Category:Harm reduction Drug checking Reagent testing Low-threshold treatment programs Managed alcohol program Moderation Management Needle exchange program Responsible drug use Stimulant maintenance Supervised injection site Tobacco harm reduction See also Addiction medicine Allen Carr Category:Addiction Discrimination against drug addicts Dopamine dysregulation syndrome Cognitive control Inhibitory control Motivational salience Incentive salience Sober companion Category Authority control GND : 4227475-8
ICD 10 however regards them as non-dependence producing. [4] Anabolic steroids are not physically addictive but users can develop a psychological dependence on the physical result. [5] Diagnostic Statistical Manual [ edit ] For DSM-IV, anabolic-androgenic steroid dependency is found in the “other substance-related disorder” (which includes inhalants, anabolic steroids, medications) section and can be coded, depending on which diagnostic criteria are met. [6] International Classification of Diseases [ edit ] ICD–10 criteria for dependence include experience of at least three of the following during the past year: [7] a strong desire to take steroids difficulty in controlling use withdrawal syndrome when use is reduced evidence of tolerance neglect of other interests and persistent use despite harmful consequences However, the following ICD-10-CM Index entries contain back-references to ICD-10-CM F55.3: [8] Abuse hormones F55.5 steroids F55.5 drug NEC (non-dependent) F19.10 hormones F55.5 steroids F55.5 non-psychoactive substance NEC F55.8 hormones F55.5 steroids F55.5 ICD-10 goes on to state that “although it is usually clear that the patient has a strong motivation to take the substance, there is no development of dependence or withdrawal symptoms as in the case of the psychoactive substances.” [6] National Institute on Drug Abuse [ edit ] The National Institute on Drug Abuse (NIDA) says that "even though anabolic steroids do not cause the same high as other drugs, steroids are reinforcing and can lead to addiction.
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For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping Miyagawa et al. (2008) conducted a genomewide association study in 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent, and 184 African Americans. A T-to-C SNP (rs5770917) located between the CPT1B (601987) and CHKB (612395) genes on chromosome 22q13 was significantly associated with narcolepsy in Japanese (odds ratio (OR) = 1.79, p = 4.4 x 10(-7)). A metaanalysis in the 4 populations yielded an OR of 1.63 (p = 5.9 x 10(-8)). Real-time quantitative PCR assays in white blood cells indicated decreased CPT1B and CHKB expression in individuals with the C allele, suggesting that a genetic variant regulating CPT1B or CHKB expression may be associated with narcolepsy.
Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called "sleep attacks") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may include cataplexy (a sudden loss of muscle tone that makes a person go limp or unable to move); vivid dream-like images or hallucinations; and/or total paralysis just before falling asleep or after waking-up. Narcolepsy may have several causes, the most common being low levels of the neurotransmitter hypocretin (for various possible reasons). The disorder is usually sporadic but some cases are familial. There is no cure, but some symptoms can be managed with medicines and lifestyle changes.
For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping In a genomewide linkage search for narcolepsy in 8 Japanese families with 21 DR2-positive patients (14 narcoleptic cases with cataplexy and 7 with an incomplete form of narcolepsy), Nakayama et al. (2000) found a lod score of 3.09 at marker D4S2987 in the 4p13-q21 region.
A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions). Epidemiology Narcolepsy type 1 prevalence is estimated between 1/2,000 and 1/5,000. Clinical description The age of onset varies between 10 and 30 years old and symptoms are lifelong. The average time between the age of appearance of the symptoms and the diagnosis is still very long, 10 years. Other, non specific, clinical signs include hypnagogic hallucinations, sleep paralysis, disturbed nocturnal sleep, and weight gain, especially in children.
For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping Hallmayer et al. (2009) performed genomewide association studies on 807 patients with narcolepsy and 1,074 controls of mixed European ancestry. All cases were HLA-DQB1*0602 positive and all had clear-cut cataplexy. Among the 23% with hypocretin-1 (HCRT; 602358) measurements, all were found to be deficient. The authors identified significant association with 3 SNPs in linkage disequilibrium on chromosome 14q11.2: rs1154155 (p = 1.9 x 10(-13)), rs12587781 (p = 3.03 x 10(-13)), and rs1263646 (p = 4.86 x 10(-12)).
A number sign (#) is used with this entry because of evidence that narcolepsy-7 (NRCLP7) is caused by heterozygous mutation in the MOG gene (159465) on chromosome 6p22. One such family has been reported. For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Clinical Features Hor et al. (2011) reported a large 4-generation family in which 12 living individuals had narcolepsy and cataplexy. A thirteenth had evidence suggesting the diagnosis. Seven affected individuals were obese and 4 had type 2 diabetes. Hypocretin (HCRT; 602358) levels in cerebrospinal fluid were undetectable in those tested.
For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping Kornum et al. (2011) reported genomewide association analyses for narcolepsy with replication and fine mapping across 3 ethnic groups (3,406 individuals of European ancestry, 2,414 Asians, and 302 African Americans) and identified a single-nucleotide polymorphism (SNP) in a 3-prime untranslated region of the purinergic receptor subtype P2Y11 gene (P2RY11) on chromosome 19p13.2 associated with narcolepsy (rs2305795, combined p = 6.1 x 10(-10), OR = 1.28, 95% CI 1.19-1.39, n = 5689). The disease-associated allele was correlated with reduced expression of P2RY11 in CD8+ T lymphocytes (339% reduced, p = 0.003) and natural killer cells (P = 0.031), but not in other peripheral blood mononuclear cell types. The low-expression variant was also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (p = 0.0007) and natural killer cells (P = 0.001). Kornum et al. (2011) concluded that their results identified P2RY11 as an important regulator of immune cell survival, with possible implications in narcolepsy and other autoimmune diseases.
Overview Narcolepsy is a sleep disorder that makes people very drowsy during the day. People with narcolepsy find it hard to stay awake for long periods of time. They fall asleep suddenly. This can cause serious problems in their daily routine. Sometimes narcolepsy also causes a sudden loss of muscle tone, known as cataplexy (KAT-uh-plek-see). This can be triggered by strong emotion, especially laughter. Narcolepsy is divided into two types.
For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400. Mapping Dauvilliers et al. (2004) reported a large French family in which 4 members had narcolepsy-cataplexy and 10 others had a milder form with isolated recurrent naps or lapses into sleep. The disorder was inherited in an autosomal dominant pattern. Genomewide linkage analysis identified a 5.15-Mb (12.6-cM) candidate region between markers D21S267 and ABCG1 on chromosome 21q, yielding a maximum 2-point lod score of 3.36 at D21S1245 and a maximum multipoint parametric lod score of 4.00 at 21GT26K. Two patients with the more severe form and 6 patients with the milder form were DQB1*0602-positive. A shared haplotype was observed in all affected individuals. Molecular analysis of the PEP19 gene (601629) revealed no mutations.
Classic Hepatic Subtype of GSD IV The differential diagnosis of the classic hepatic subtype of GSD IV includes other glycogen storage disorders and mitochondrial DNA depletion syndromes. Examples of these categories of disorders are described in Table 2b.
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms). Clinical description Clinical presentation is extremely heterogeneous and involves the liver or the neuromuscular system. In the classical form, children are normal at birth, but develop hepatomegaly, hypotonia, and developmental delay during their first months. The disease then rapidly progresses to cirrhosis with portal hypertension and ascites, ultimately causing death in early childhood. A non-progressing hepatic form has been reported in a few cases. In the neuromuscular presentation, the age of onset ranges from fetal to adult age.
Human disease Glycogen storage disease type IV Other names Andersen's triad , Andersen’s Disease [1] Glycogen Specialty Endocrinology , medical genetics , hepatology Glycogen storage disease type IV is a form of glycogen storage disease , which is caused by an inborn error of metabolism . It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease.
Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive ; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
Indications for surgery in tertiary hyperparathyroidism commonly involve the development of chronic, severe conditions including osteopenia, persistent severe hypercalcemia, bone pain and pathologic fracture. [7] [2] [1] [4] Other indications include development of conditions such calciphylaxis. [1] Surgical options for tertiary hyperparathyroidism include subtotal parathyroidectomy (three and one half of total tissue) and total parathyroidectomy with autotransplatation of resected tissue. [7] [2] [1] Outcomes from surgery are generally favourable and a return to normalised blood calcium levels and parathyroid function is seen. [1] History [ edit ] In 1962, Dr C.E Dent reported that autonomous hyperparathyroidism may result from malabsorption syndromes and chronic kidney disease. [6] The term ‘tertiary hyperparathyroidism’ was first used in 1963 by Dr Walter St.
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Surveillance Affected individuals should regularly visit a neurologist familiar with the ataxia syndromes to identify potential complications that develop over time and to manage clinical challenges associated with decreased mobility and exercise or difficulties with speech and swallowing.
A number sign (#) is used with this entry because evidence suggests that spinocerebellar ataxia-8 (SCA8) is caused by bidirectional transcription at the SCA8 locus on chromosome 13q21 involving both an expanded CTG trinucleotide repeat in the ATXN8OS gene (603680.0001) and the complementary CAG repeat in the ATXN8 gene (613289.0001). These variations result in expression of a CUG expansion mRNA transcript and a polyglutamine protein, respectively, suggesting a toxic gain of function at both the protein and RNA levels. The molecular defect is often referred to as the 'CTG*CAG' repeat expansion, referring to the complementary basepairs of the ATXN8OS and ATXN8 genes, reading 5-prime to 3-prime (review by Ikeda et al., 2008). Normal alleles contain 15 to 50 repeats, whereas pathogenic alleles contain 71 to 1,300 repeats (Todd and Paulson, 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Epidemiology Prevalence is unknown. However, SCA8 accounts for approximately 3% of ADCA cases. Clinical description Other features include dysexecutive disorders and commonly psychiatric disorders. Etiology SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene ( ATXN8 ). SCA8 is thought to result from RNA-mediated neurotoxicity. Prognosis Prognosis is relatively good.
Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).