"Idiopathic retroperitoneal fibrosis: a discussion of the etiology". J. Urol . 94 (4): 385–90. doi : 10.1016/s0022-5347(17)63635-8 . ... PMC 4926988 . PMID 26860343 . ^ van Bommel EF (July 2002). "Retroperitoneal fibrosis" .
Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs or vessels become blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause pain in the abdomen that worsens with time, pain or swelling of the legs, decreased urine output, and swelling of the scrotum in men. Risk factors for retroperitoneal fibrosis include asbestos exposure, smoking, tumor, infection, trauma, radiotherapy, surgery, and use of certain drugs.Treatment may include corticosteroids, tamoxifen, stents or surgery.
Comings et al. (1967) reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. Goldbach et al. (1983) reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. Phills et al. (1973) reported retroperitoneal fibrosis in 3 sibs. Zabetakis et al. (1979) raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease. Neck - Riedel sclerosing thyroiditis Inheritance - Autosomal recessive Abdomen - Retroperitoneal fibrosis Skel - Finger contractures - Seronegative spondylarthropathy - Camptodactyly Liver - Sclerosing cholangitis HEENT - Pseudotumor of orbit Thorax - Mediastinal fibrosis ▲ Close
A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.
Overview A broken collarbone is a common injury. The collarbone, also known as the clavicle, connects the shoulder blade to the breastbone. Common causes of a broken collarbone include falls, sports and traffic accidents. Infants sometimes break their collarbones while being born. Seek medical help quickly for a broken collarbone. Most heal well with ice, pain relievers, a sling, physical therapy and time. Some breaks might require surgery to put plates, screws or rods into the bone to hold the pieces in place during healing.
One way of screening includes a heel stick to test the blood glucose level at the bedside. [1] Diagnosing hypoglycemia in neonates requires two consecutive blood glucose readings of less than 40 mg/dl to properly diagnose hypoglycemia. [1] Bedside glucose monitoring is only effective if the equipment is accurate, rapid, and reliable. [1] This form of testing is often faster and more cost effective. [1] Laboratory serum glucose testing is the most accurate way of testing blood glucose levels. [1] These specimens are either taken from the heel, arterial, or venous punctures and must be store immediately on ice in order to prevent glycolysis, further altering the results. [1] USA guidelines recommended that the hypoglycemic neonate should have a glucose test every 2–4 hours for the first 24 hours of life. [1] Guidelines in the UK, however, recommend pre-feed screening of at-risk infants at 2–4 hours of age (to avoid false positives when blood glucose is, ordinarily, at its lowest at 2–3 hours of age) and at the subsequent feed until a blood glucose level of >2.0 mmol/l (36 mg/dl) on at least two consecutive occasions and is feeding well. [ citation needed ] Management [ edit ] Some infants are treated with 40% dextrose (a form of sugar) gel applied directly to the infant's mouth. [10] There are two main ways that neonatal hypoglycemia is treated. [1] The first way includes intravenous infusion of glucose. [1] For less severe, borderline, asymptomatic hypoglycemic neonates early introduction of breast milk can be effective for raising glucose levels to a healthy level. [1] Any infant at risk of hypoglycemia should have their blood sugar taken again one hour after birth. [1] Oral glucose is another option to restore normal glucose levels if the newborn is having difficulty latching to the breast or breastfeeding is not an option, however, breast milk is proven to be a better source as it includes glucose and carbohydrates. [1] It is recommended by The American Academy of Pediatrics that infants feed within the first hour of life with the glucose reading being 30 minutes after this feeding for an accurate result. [1] If the initial feeding does not raise the newborn's blood glucose above 40 mg/dl then the newborn must receive an IV infusion of 10% dextrose in water as a mini bolus as 2 ml/kg over 1 minute. [1] Following the mini bolus a continuous infusion of 10% dextrose in water at 80-100 ml/kg/day in order to maintain a healthy serum glucose level between 40–50 mg/dl. [1] Maintaining newborn thermoregulation is a large part in preventing further hypoglycemia as well. [1] Nursing care management [ edit ] The biggest nursing concern for a neonate experiencing hypoglycemia is the physical assessment to potentially find the cause. [1] It is also essential to prevent environmental factors such as cold stress that may predispose the newborn for further decreasing blood sugar. [1] Within the physical assessment, comorbidities of hypoglycemia should also be assessed such as intolerance of feeding, or respiratory distress. [1] Another important nursing intervention is assisting the mother in successful breastfeeding as this can prevent and treat hypoglycemia. [1] If an IV infusion of 10% dextrose in water is initiated then the nurse must monitor for: •Circulatory overload [1] •Hyperglycemia [1] •Glycosuria [1] •Intracellular dehydration [1] See also [ edit ] Congenital hyperinsulinism Hyperinsulinemic hypoglycemia References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa abac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az babbbcbd be bf bg bh bi bj bk bl bm bn bo Wong's nursing care of infants and children . ... "Neonatal Hypoglycemia: Risk Factors and Outcomes" . Prilozi . 38 (1): 97–101. doi : 10.1515/prilozi-2017-0013 .
Molecular Interventions . 2 (6): 376–91, 339. doi : 10.1124/mi.2.6.376 . PMID 14993414 . ^ Wang, Yiyang, et al. (2017). ... "Prader–Willi and Angelman syndromes: sister imprinted disorders". Am J Med Genet . 97 (2): 136–146. doi : 10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v . ... PMID 16574761 . ^ a b c Williams C (2005) "Neurological aspects of the Angelman syndrome" Brain & Development 27: 88–94 ^ Laan, Laura A.E.M.; Vein, Alla A. (2005). "Angelman syndrome: is there a characteristic EEG?". Brain and Development . 27 (2): 80–87. doi : 10.1016/j.braindev.2003.09.013 . ... Neurol . 14 (2): 131–6. doi : 10.1016/0887-8994(96)00011-2 . PMID 8703225 . ^ Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K (1995).
Overview Angelman syndrome is a genetic disorder. It causes delayed development, problems with speech and balance, intellectual disability, and, sometimes, seizures. People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old. People with Angelman syndrome tend to live close to a normal life span, but the disorder can't be cured. Treatment focuses on managing medical, sleep and developmental issues.
Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size . Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A . Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.
Head circumference at birth was normal in all but skewed in distribution, with 62.5% at the 10th centile. Epilepsy was present in 96% with onset during the third year of life in 20 of 26 patients. ... Ametropia (refractive error) greater than 1 diopter (D) was present in 97% of cases: myopia in 9%, hyperopia in 76%, and astigmatism in 94%. ... Important features included active seizures (41%), sleep dysfunction (72%), constipation (85%), obesity (32%), scoliosis (50%), and self-injurious behavior (52%). ... Pointing out that the diagnosis of Angelman syndrome can be confirmed by a genetic laboratory in only about 80% of cases, Williams et al. (2001) reviewed several mimicking conditions, including microdeletions or microduplications. ... Chan et al. (1993) presented a series of 93 Angelman syndrome patients, showing the relative contribution of the various genetic mechanisms. Sporadic cases accounted for 81 AS patients, while 12 cases came from 6 families.
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. Epidemiology Prevalence of AS is estimated to be 1/10,000 to 1/20,000 worldwide. Clinical description Patients with AS appear normal at birth. In the first 6 months of the neonatal period, feeding difficulties and hypotonia may occur, followed by developmental delay between 6 months and 2 years of age. Generally from 1 year of age, the typical features of AS develop: severe intellectual deficit, absent speech, outbursts of laughter with hand flapping, microcephaly, macrostomia, maxillary hypoplasia, prognathia and neurological problems with a puppet-like gait, ataxia and epileptic seizures with specific electroencephalogram (EEG) abnormalities (triphasic delta activity with a maximum over the frontal regions). Other signs that have been described include a happy demeanor, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water.
Therefore, molecular genetic testing (methylation analysis and UBE3A sequence analysis) identifies alterations in approximately 90% of individuals. The remaining 10% of individuals with classic phenotypic features of AS have the disorder as a result of an as-yet unidentified genetic mechanism and thus are not amenable to diagnostic testing. ... DNA methylation analysis identifies approximately 80% of individuals with AS. Note: Most commercially available DNA methylation analysis tests cannot distinguish between AS resulting from a deletion, UPD, or an ID. ... Testing Used in Angelman Syndrome (AS) View in own window Method Genetic Mechanism Detected 1 Total Proportion of AS Detected by Method 2 15q11.2-q13del UPD ID UBE3A seq UBE3A del/dup DNA methylation analysis 3, 4 X X X 5 ~80% MS-MLPA 6 X X X ~80% FISH 7 X ~68% CMA 8 X X 9 ~68% UPD study 10 X ~7% AS IC deletion analysis 11, 12 X ~3% UBE3A sequence analysis X 13 ~11% 14 UBE3A gene-targeted deletion/duplication analysis 11, 15 X Rare IC = imprinting center; ID = imprinting defect; UPD = uniparental disomy 1. ... Will not distinguish genetic mechanism 5. 80%-90% of IDs are thought to be epigenetic pathogenic variants occurring during maternal oogenesis or in early embryogenesis [Buiting 2010]. ... Low copy repeat elements (LCRs) are located within these breakpoint regions (see text for details). Approximately 90% of chromosome deletions resulting in Angelman (more...)
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly ). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.
"Emergence delirium in children: many questions, few answers" . Anesth. Analg . 104 (1): 84–91. doi : 10.1213/01.ane.0000250914.91881.a8 . ... "Emergence delirium in adults in the post-anaesthesia care unit" . Br. J. Anaesth . 96 (6): 747–53. doi : 10.1093/bja/ael094 . ... External links [ edit ] Classification D ICD - 10 : F13.4 ICD - 9-CM : 292.81 MeSH : D000071257 v t e Anesthesia and anesthesiology Types General Sedation Twilight anesthesia Local Topical Intercostal nerve block Neuraxial blockade Spinal Epidural Dental Inferior alveolar nerve Techniques Airway management Anesthesia provision in the US Arterial catheter Bronchoscopy Capnography Dogliotti's principle Drug-induced amnesia Intraoperative neurophysiological monitoring Nerve block Penthrox inhaler Tracheal intubation Scientific principles Blood–gas partition coefficient Concentration effect Fink effect Minimum alveolar concentration Second gas effect Measurements ASA physical status classification system Baricity Bispectral index Entropy monitoring Fick principle Goldman index Guedel's classification Mallampati score Neuromuscular monitoring Thyromental distance Instruments Anaesthetic machine Anesthesia cart Boyle's machine Gas cylinder Laryngeal mask airway Laryngeal tube Medical monitor Odom's indicator Relative analgesia machine Vaporiser Double-lumen endotracheal tube Endobronchial blocker Complications Emergence delirium Allergic reactions Anesthesia awareness Local anesthetic toxicity Malignant hyperthermia Perioperative mortality Postanesthetic shivering Postoperative nausea and vomiting Postoperative residual curarization Subspecialties Cardiothoracic Critical emergency medicine Geriatric Intensive care medicine Obstetric Oral sedation dentistry Pain medicine Professions Anesthesiologist Anesthesiologist assistant Nurse anesthetist Operating department practitioners Certified Anesthesia Technician Certified Anesthesia Technologist Anaesthetic technician Physicians' assistant (anaesthesia) History ACE mixture Helsinki Declaration for Patient Safety in Anaesthesiology History of general anesthesia History of neuraxial anesthesia History of tracheal intubation Organizations American Association of Nurse Anesthetists American Society of Anesthesia Technologists & Technicians American Society of Anesthesiologists Anaesthesia Trauma and Critical Care Association of Anaesthetists of Great Britain and Ireland Royal College of Anaesthetists Association of Veterinary Anaesthetists Australian and New Zealand College of Anaesthetists Australian Society of Anaesthetists International Anesthesia Research Society Category Outline
Menke et al. (2018) also described a 14-year-old girl from the Netherlands (E2) who had slept unusually much during infancy and did not seem to notice feelings of hunger and had no suck reflex. ... At age 4, speech therapy was started both for speech delay and for swallowing problems, and at age 5 physiotherapy was started because of delay in fine motor skills. She was found to have an IQ of 91 (verbal 101, performance 82). Autism spectrum disorder was also diagnosed. ... Patient E1 had large halluces with fibular deviation, and E2 had normal halluces. Both had normal thumbs.
A number sign (#) is used with this entry because of evidence that pituitary adenoma-4 (PITA4) is caused by somatic mutation in the USP8 gene (603158) on chromosome 15q21. Description Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).
ACTH-secreting pituitary adenoma is a condition characterized by elevated levels of a hormone called cortisol secreted by a tumor in the pituitary gland. It is part of a group of diseases that cause Cushing’s syndrome , characterized by signs and symptoms that may include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems, as well as an increased risk of infections, high blood pressure and diabetes . Women may have irregular menses and a lot of hair in the body (hirsutism). It occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. Some cases are caused by somatic mutations in the AIP and the GNAS genes.
Overview Cushing syndrome happens when the body has too much of the hormone cortisol for a long time. This can result from the body making too much cortisol, or from taking medicines called glucocorticoids, which affect the body the same way as cortisol. Too much cortisol can cause some of the main symptoms of Cushing syndrome — a fatty hump between the shoulders, a rounded face, and pink or purple stretch marks on the skin. Cushing syndrome also can cause high blood pressure or bone loss. Sometimes, it can cause type 2 diabetes. Treatments for Cushing syndrome can lower the body's cortisol levels and improve symptoms.
Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma. Epidemiology Exact prevalence is unknown. Prevalence of endogenous CS is estimated at around 1/26,000, with CD representing more than two-thirds of all cases. Recent data suggests that mild CD is more common than previously thought. Clinical description The female-to-male ratio of CD is 4-5:1, except in prepubertal patients, in which a strong male predominance is observed. The peak incidence is at 25-40 years of age. The disease manifests with signs of CS (truncal and facial obesity and signs of hypercatabolism) as well as skin hyperpigmentation and/or neurological complications in some cases of corticotroph macro-adenoma.
In the United States, it is 0.08 g/dL. [ citation needed ] In diagnosing ABS through serum measurement methods, patients are made to fast in order to establish baseline blood alcohol and blood glucose levels. ... PMC 6831150 . PMID 31750376 . ^ a b c d Fath BD, Jørgensen SE (23 August 2018). Encyclopedia of ecology . ... "Fatty Liver Disease Caused by High-Alcohol-Producing Klebsiella pneumoniae" . Cell Metabolism . 30 (4): 675–688.e7. doi : 10.1016/j.cmet.2019.08.018 . ... Forensic Science International . 216 (1–3): 97–100. doi : 10.1016/j.forsciint.2011.09.003 . ... Zeitschrift für Rechtsmedizin. Journal of Legal Medicine . 89 (3): 167–72. doi : 10.1007/BF01873798 .
Mirzoyeva, Vertebral hemangiomas: diagnosis, management, natural history and clinicopathological correlates in 86 patients. Surg Neurol, 1998. 50 (6): p. 535-47. ^ a b Chi, J.H., G.T. ... Case report, review of the literature, and management algorithm. Neurosurg Focus, 2005. 19 (3): p. E7. ^ a b Castel, E., et al., Acute spinal cord compression due to intraspinal bleeding from a vertebral hemangioma: two case-reports.
"CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation". Am. J. Med. Genet . 85 (3): 209–13. doi : 10.1002/(SICI)1096-8628(19990730)85:3<209::AID-AJMG4>3.0.CO;2-2 . ... "Androgen insensitivity". Am. J. Med. Genet . 89 (4): 210–7. doi : 10.1002/(SICI)1096-8628(19991229)89:4<210::AID-AJMG5>3.0.CO;2-P . ... "Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men". J. Clin. Endocrinol. Metab . 86 (6): 2585–90. doi : 10.1210/jc.86.6.2585 . hdl : 11380/607795 . ... PMID 16809273 . ^ a b Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS (September 1994). ... "Consensus statement on management of intersex disorders" . Arch. Dis. Child . 91 (7): 554–63. doi : 10.1136/adc.2006.098319 .
Many people with COPD mistakenly think they have asthma. [36] The distinction between asthma and COPD is made on the basis of the symptoms, smoking history, and whether airflow limitation is reversible with bronchodilators at spirometry. [83] Tuberculosis may also present with a chronic cough and should be considered in locations where it is common. [22] Less common conditions that may present similarly include bronchopulmonary dysplasia and obliterative bronchiolitis . [80] Chronic bronchitis may occur with normal airflow and in this situation it is not classified as COPD. [23] Prevention [ edit ] Most cases of COPD are potentially preventable through decreasing exposure to smoke and improving air quality. [17] Annual influenza vaccinations in those with COPD reduce exacerbations, hospitalizations and death. [84] [85] Pneumococcal vaccination may also be beneficial. [84] Eating a diet high in beta-carotene may help but taking supplements does not seem to. [86] A review of an oral Haemophilus influenzae vaccine found 1.6 exacerbations per year as opposed to a baseline of 2.1 in those with COPD. [87] This small reduction was not deemed significant. [87] Smoking cessation [ edit ] Keeping people from starting smoking is a key aspect of preventing COPD. [88] The policies of governments, public health agencies, and antismoking organizations can reduce smoking rates by discouraging people from starting and encouraging people to stop smoking. [89] Smoking bans in public areas and places of work are important measures to decrease exposure to secondhand smoke, and while many places have instituted bans, more are recommended. [17] In those who smoke, stopping smoking is the only measure shown to slow down the worsening of COPD. [90] [91] Even at a late stage of the disease, it can reduce the rate of worsening lung function and delay the onset of disability and death. [92] Often, several attempts are required before long-term abstinence is achieved. [89] Attempts over 5 years lead to success in nearly 40% of people. [93] Some smokers can achieve long-term smoking cessation through willpower alone. Smoking, however, is highly addictive, [94] and many smokers need further support. The chance of quitting is improved with social support, engagement in a smoking cessation program, and the use of medications such as nicotine replacement therapy , bupropion , or varenicline . [89] [91] [93] Combining smoking-cessation medication with behavioral therapy is more than twice as likely to be effective in helping people with COPD stop smoking, compared with behavioral therapy alone. [95] Occupational health [ edit ] A number of measures have been taken to reduce the likelihood that workers in at-risk industries—such as coal mining, construction, and stonemasonry—will develop COPD. [17] Examples of these measures include the creation of public policy, [17] education of workers and management about the risks, promoting smoking cessation, checking workers for early signs of COPD, use of respirators , and dust control. [96] [97] Effective dust control can be achieved by improving ventilation, using water sprays and by using mining techniques that minimize dust generation. [98] If a worker develops COPD, further lung damage can be reduced by avoiding ongoing dust exposure, for example by changing their work role. [99] Air pollution [ edit ] Both indoor and outdoor air quality can be improved, which may prevent COPD or slow the worsening of existing disease. [17] This may be achieved by public policy efforts, cultural changes, and personal involvement. [62] A number of developed countries have successfully improved outdoor air quality through regulations. This has resulted in improvements in the lung function of their populations. [17] Those with COPD may experience fewer symptoms if they stay indoors on days when outdoor air quality is poor. [5] One key effort is to reduce exposure to smoke from cooking and heating fuels through improved ventilation of homes and better stoves and chimneys. [62] Proper stoves may improve indoor air quality by 85%. Using alternative energy sources such as solar cooking and electrical heating is also effective. ... Excessive oxygen; however, can result in increased CO 2 levels and a decreased level of consciousness. [168] Corticosteroids by mouth improve the chance of recovery and decrease the overall duration of symptoms. [2] [62] They work equally well as intravenous steroids but appear to have fewer side effects. [169] Five days of steroids work as well as ten or fourteen. [170] In those with a severe exacerbation, antibiotics improve outcomes. [171] A number of different antibiotics may be used including amoxicillin , doxycycline and azithromycin ; whether one is better than the others is unclear. [84] The FDA recommends against the use of fluoroquinolones when other options are available due to higher risks of serious side effects. [172] There is no clear evidence for those with less severe cases. [171] For people with type 2 respiratory failure (acutely raised CO 2 levels) non-invasive positive pressure ventilation decreases the probability of death or the need of intensive care admission. [2] Additionally, theophylline may have a role in those who do not respond to other measures. [2] Fewer than 20% of exacerbations require hospital admission. [62] In those without acidosis from respiratory failure, home care ("hospital at home") may be able to help avoid some admissions. [62] Prognosis [ edit ] Chronic obstructive pulmonary disease deaths per million persons in 2012 9–63 64–8081–95 96–116 117–152 153–189 190–235 236–290 291–375 376–1089 Disability-adjusted life years lost to chronic obstructive pulmonary disease per 100,000 inhabitants in 2004. [173] no data ≤110 110–220 220–330 330–440 440–550 550–660 660–770 770–880 880–990 990–1100 1100–1350 ≥1350 COPD usually gets gradually worse over time and can ultimately result in death.
Overview Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory lung disease that causes obstructed airflow from the lungs. Symptoms include breathing difficulty, cough, mucus (sputum) production and wheezing. It's typically caused by long-term exposure to irritating gases or particulate matter, most often from cigarette smoke. People with COPD are at increased risk of developing heart disease, lung cancer and a variety of other conditions. Emphysema and chronic bronchitis are the two most common conditions that contribute to COPD .
Hertzog (1968) suggested that there are at least 3 subtypes of BDE: E1, in which shortening is limited to fourth metacarpals and/or metatarsals (Hortling et al., 1960); E2, in which variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges (McKusick and Milch, 1964); and E3, a dubious category which may have a variable combination of short metacarpals without phalangeal involvement.
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. Epidemiology BDE is very rare. Clinical description Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature. Etiology BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32). Antenatal diagnosis It is inherited as an autosomal dominant trait with variable expressivity.
A number sign (#) is used with this entry because this form of brachydactyly type E (BDE2) is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p. For a general phenotypic description and a discussion of genetic heterogeneity of BDE, see BDE1 (113300). Molecular Genetics In affected members of a 3-generation family segregating autosomal dominant brachydactyly type E, short stature, and learning difficulties, Klopocki et al. (2010) performed array-based CGH and identified a 907.68-kb microdeletion on chromosome 12p that encompassed 6 known genes, only 1 of which, PTHLH (168470), was known to play a critical role in skeletal development. Klopocki et al. (2010) analyzed the PTHLH gene in 4 unrelated families with BDE and short stature and identified heterozygous missense and nonsense mutations (168470.0001-168470.0004, respectively). None of the affected individuals in the latter 4 families had learning disabilities, suggesting that the deletion of the 5 genes distal to PTHLH most likely accounted for the additional phenotype.
Mapping Cann et al. (1983) found a restriction fragment that segregated with HLA-B8. Either the fragment carried the B8 specificity or represented another class I gene (or pseudogene) in linkage disequilibrium with HLA-B8. ... The loci were found to be located about 85 kb apart, each in close association with a CpG island. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1, 604305) polymorphism makes the net effect on resistance to malaria comparable. ... Martin et al. (2002) reported that the activating KIR allele KIR3DS1 (604946), in combination with HLA-B alleles that encode molecules with isoleucine at position 80 (HLA-B Bw4-80Ile), is associated with delayed progression to AIDS in individuals infected with HIV-1 (604946.0001). ... Specific amino acids in the HLA-B peptide binding groove, at positions 62, 63, 67, 70, and 97, as well as an independent HLA-C effect, explained the SNP associations and reconciled both protective and risk HLA alleles.
When cisplatin is present, it is thought to be the most active single agent in periodic diseases. [89] Such addition of platinum-based chemotherapy to chemoradiation seems not only to improve survival but also reduces risk of recurrence in women with early stage cervical cancer (IA2-IIA). [90] A Cochrane review found a lack of evidence on the benefits and harms of primary hysterectomy compared to primary chemoradiotherapy for cervical cancer in stage IB2. [91] Advanced-stage tumors (IIB-IVA) are treated with radiation therapy and cisplatin-based chemotherapy. ... The chance of a survival rate is nearly 100% for women with microscopic forms of cervical cancer. [97] With treatment, the five-year relative survival rate for the earliest stage of invasive cervical cancer is 92%, and the overall (all stages combined) five-year survival rate is about 72%. ... PMC 4086375 . PMID 25045355 . ^ Dunne EF, Park IU (December 2013). "HPV and HPV-associated diseases". ... American Journal of Public Health . 91 (6): 947–52. doi : 10.2105/AJPH.91.6.947 . ... PMID 23732026 . ^ a b Curry SJ, Krist AH, Owens DK, Barry MJ, Caughey AB, Davidson KW, et al. (August 2018).
Overview Cervical cancer is a type of cancer that occurs in the cells of the cervix — the lower part of the uterus that connects to the vagina. Various strains of the human papillomavirus (HPV), a sexually transmitted infection, play a role in causing most cervical cancer. When exposed to HPV , the body's immune system typically prevents the virus from doing harm. In a small percentage of people, however, the virus survives for years, contributing to the process that causes some cervical cells to become cancer cells. You can reduce your risk of developing cervical cancer by having screening tests and receiving a vaccine that protects against HPV infection.
A number sign (#) is used with this entry because of evidence that various genes are involved in the causation of cervical cancer. Pathogenesis In the vast majority of cases, invasive carcinoma of the uterine cervix is thought to arise from preinvasive cervical intraepithelial neoplasias, designated CIN I-CIN III, which represent a pathologic continuum from mild to severe epithelial dysplasia. Only some cases of the more dysplastic lesions progress further to invasive carcinoma. Whereas most of the precursor lesions are readily curable, the prognosis for invasive carcinoma is generally poor, making the dissection of the molecular events that cause invasion considerably important. The observations are consistent with models describing a multistep genetic pathway for human tumorigenesis as proposed by Fearon and Vogelstein (1990) for colorectal cancer.
Bulimia is thought to be more prevalent among Caucasians ; [81] however, a more recent study showed that African-American teenage girls were 50 percent more likely than Caucasian girls to exhibit bulimic behavior, including both binging and purging. [82] Country Year Sample size and type % affected Australia 2008 1,943 adolescents (ages 15–17) 1.0% male 6.4% female [26] Portugal 2006 2,028 high school students 0.3% female [83] Brazil 2004 1,807 students (ages 7–19) 0.8% male 1.3% female [84] Spain 2004 2,509 female adolescents (ages 13–22) 1.4% female [85] Hungary 2003 580 Budapest residents 0.4% male 3.6% female [80] Australia 1998 4,200 high school students 0.3% combined [86] United States 1996 1,152 college students 0.2% male 1.3% female [87] Norway 1995 19,067 psychiatric patients 0.7% male 7.3% female [88] Canada 1995 8,116 (random sample) 0.1% male 1.1% female [89] Japan 1995 2,597 high school students 0.7% male 1.9% female [90] United States 1992 799 college students 0.4% male 5.1% female [91] History [ edit ] Etymology [ edit ] The term bulimia comes from Greek βουλιμία boulīmia , "ravenous hunger", a compound of βοῦς bous , "ox" and λιμός, līmos , "hunger". [92] Literally, the scientific name of the disorder, bulimia nervosa , translates to "nervous ravenous hunger". ... (Ab)normal Psychology . McGraw Hill. p. 338. ... ISBN 978-0-89042-025-6 . ^ [Nolen-Hoeksema, S. (2013)."(Ab)normal Psychology" (6th edition). ... PMID 15300375 . ^ Franko DL, Becker AE, Thomas JJ, Herzog DB (March 2007). ... Jornal de Pediatria (in Portuguese). 80 (1): 49–54. doi : 10.1590/S0021-75572004000100010 .
Overview Bulimia (boo-LEE-me-uh) nervosa, commonly called bulimia, is a serious, potentially life-threatening eating disorder. People with bulimia may secretly binge — eating large amounts of food with a loss of control over the eating — and then purge, trying to get rid of the extra calories in an unhealthy way. To get rid of calories and prevent weight gain, people with bulimia may use different methods. For example, you may regularly self-induce vomiting or misuse laxatives, weight-loss supplements, diuretics or enemas after bingeing. Or you may use other ways to rid yourself of calories and prevent weight gain, such as fasting, strict dieting or excessive exercise.
"Effects of single and repeated applications of a eutectic mixture of local anaesthetics (EMLA) cream on spontaneous and evoked pain in post-herpetic neuralgia". Pain . 81 (1–2): 203–9. doi : 10.1016/S0304-3959(99)00014-7 . ... Stockholm: Karolinska Institutet http://diss.kib.ki.se/2010/978-91-7457-025-0/thesis.pdf ^ Hofstetter CP, Holmström NA, Lilja JA (March 2005). ... Pain . 75 (1): 141–55. doi : 10.1016/S0304-3959(97)00216-9 . PMID 9539683 . S2CID 28700511 . ^ Kalous A, Osborne PB, Keast JR (2007). ... "All-trans retinoic acid induces COX-2 and prostaglandin E2 synthesis in SH-SY5Y human neuroblastoma cells: involvement of retinoic acid receptors and extracellular-regulated kinase 1/2" . ... PMID 17204142 . ^ Rukwied R, Chizh BA, Lorenz U (2007). "Potentiation of nociceptive responses to low pH injections in humans by prostaglandin E2" .
A set of symptoms relating to excessive academic or intellectual pressure in the young Not to be confused with Brain fog . Brain fag syndrome ( BFS ) describes a set of symptoms : somatic, sleep-related and cognitive complaints, difficulty in concentrating and retaining information, head and neck pains, and eye pain. [1] The condition was first described in Nigerian high school and university students in the 1960s. [1] [2] It is considered a culture-bound syndrome caused by excessive pressure to be successful among the young. [3] Contents 1 Classification 2 Causes 3 Treatment 4 Epidemiology 5 History 6 See also 7 References Classification [ edit ] BFS is classified in the fourth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as a culture-bound syndrome . [1] Individuals with symptoms of brain fag must be differentiated from those with the syndrome according to the Brain Fag Syndrome Scale (BFSS); [1] Ola et al said it would not be "surpris[ing] if BFS was called an equivalent of either depression or anxiety". [1] Causes [ edit ] Morakinyo found in 20 people with BFS an achievement drive that was anxiety -related that led to the use of psychostimulants and consequent sleep deprivation which contributed to cognitive disruption. [1] Omoluabi related BFS to test anxiety. [1] Treatment [ edit ] 19th-century American trade card, listing a cure for "brain fag" among other things Anumonye reported treatment success with lorazepam; others found benefit with antidepressants and relaxation exercises. [1] Epidemiology [ edit ] BFS has been reported in other African cultures, [1] and also in Brazil, Argentina, and Ethiopian Jews . [1] Historic higher reported prevalence among males may be due to more males being present in higher education in African countries. [1] Studies since the 1990s have not verified gender differences. [1] Other studies found a possible association with low socioeconomic status , an association with average or higher intelligence, and a high association with neuroticism . [1] Individuals with BFS have been found to have problems with isolation, poor study habits, and the use of psychostimulants as well as physical changes including in muscle tension and heart rate. [1] History [ edit ] The condition was first described by R. ... Ayonrinde concludes that, the time has come for the decolonization of brain fag and its African syndromization in the true spirit of ethical scientific rigour in the twenty-first century. [5] See also [ edit ] Burnout Exhaustion References [ edit ] ^ a b c d e f g h i j k l m n o Ola BA, Morakinyo O, Adewuya AO (May 2009).