The drug targets the role of macrophages in disease progression. [26] [27] Manipulating thyroid hormone levels may become a viable strategy to promote remyelination and prevent irreversible damage in MS patients. [28] It has also been shown that intranasal administration of apotransferrin (aTf) can protect myelin and induce remyelination. [29] Finally, electrical stimulation which activates neural stem cells may provide a method by which regions of demyelination can be repaired. [30] In other animals [ edit ] Demyelinating diseases/disorders have been found worldwide in various animals. ... Archived from the original on 2012-07-28. ^ "Symptoms of Demyelinating Disorders - Right Diagnosis."
Trends in Cardiovascular Medicine . 28 (7): 453–464. doi : 10.1016/j.tcm.2018.03.003 . ... Trends in Cardiovascular Medicine . 28 (7): 453–464. doi : 10.1016/j.tcm.2018.03.003 .
A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). Epidemiology The prevalence of Romano-Ward syndrome (RWS) is estimated at 1/2,500. Clinical description Cardiac events occur from infancy through middle age but may manifest as early as the intrauterine stage with possibility of still birth. Most patients develop the symptoms during exercise or in response to stress or emotional disturbances and symptoms rarely occur at rest or during sleep. The syncopal episodes are due to TdP, a polymorphic ventricular tachycardia.
Romano-Ward syndrome is the most common form of inherited long QT syndrome . Symptoms include arrhythmia , fainting, cardiac arrest , and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart . In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.
An initial approach often involves screening for, and if necessary, treating any mineral deficiencies or other comorbid conditions . [7] For pica that appears to be of psychogenic cause, therapy and medication such as SSRIs have been used successfully. [27] However, previous reports have cautioned against the use of medication until all non-psychogenic causes have been ruled out. [28] Looking back at the different causes of pica related to assessment, the clinician tries to develop a treatment. ... "Behavioral interventions to reduce the pica of persons with developmental disabilities". Behavior Modification . 28 (1): 45–72. doi : 10.1177/0145445503259219 .
Not all of the diverticula-bearing colon must be removed, since diverticula proximal to the descending or sigmoid colon are unlikely to result in further symptoms. [28] Approach [ edit ] Diverticulitis surgery consists of a bowel resection with or without colostomy . ... Therapeutic Advances in Gastroenterology . 9 (2): 213–28. doi : 10.1177/1756283x15621228 .
Overview Diverticula are small, bulging pouches that can form in the lining of your digestive system. They are found most often in the lower part of the large intestine (colon). Diverticula are common, especially after age 40, and seldom cause problems. The presence of diverticula is known as diverticulosis (die-vur-tik-yoo-LOE-sis). When one or more of the pouches become inflamed, and in some cases infected, that condition is known as diverticulitis (die-vur-tik-yoo-LIE-tis).
Among those ED visits, 501,207 visits were related to anti-anxiety and insomnia medications, and 420,040 visits were related to opioid analgesics. [27] U.S. yearly overdose deaths from all drugs. [18] U.S. yearly overdose deaths involving benzodiazepines . [18] U.S. yearly overdose deaths involving cocaine . [18] U.S. yearly overdose deaths involving heroin . [18] U.S. overdose deaths involving all opioids . Deaths per 100,000 population. [28] U.S. yearly deaths involving prescription opioids. ... National Center for Health Statistics . ^ a b c d e f g Overdose Death Rates . And Archived 2015-11-28 at the Wayback Machine . By National Institute on Drug Abuse . ^ Sanger-Katz, Margot (2018-08-15).
Fetal [ edit ] IUGR (15% incidence) [12] Hypoxia Premature delivery Death Epidemiology [ edit ] Placenta previa occurs approximately one of every 200 births globally. [5] It has been suggested that rates of placenta previa are increasing due to increased rate of Caesarian section. [28] Reasons for regional variation may include ethnicity and diet. [5] Africa [ edit ] Rates of placenta praevia in Sub-Saharan Africa are the lowest in the world, averaging 2.7 per 1000 pregnancies. ... Ultrasound in Obstetrics & Gynecology . 28 (7): 944–949. doi : 10.1002/uog.3873 .
Overview Placenta previa (pluh-SEN-tuh PREH-vee-uh) is a problem during pregnancy when the placenta completely or partially covers the opening of the uterus (cervix). Placenta previa The placenta is an organ that develops in the uterus during pregnancy. In most pregnancies, the placenta attaches at the top or on the side of the uterus. In placenta previa, the placenta attaches low in the uterus. The placenta might partially or completely cover the opening of the uterus, called the cervix. Placenta previa can cause severe bleeding in the mother before, during or after delivery.
However, unilateral visions moving horizontally across the visual field begin on the contralateral side and move toward the ipsilateral side. [22] [28] Temporal lobe seizures , on the other hand, can produce complex visual hallucinations of people, scenes, animals, and more as well as distortions of visual perception . ... Retrieved 2006-11-25 . ^ Engmann, Birk; Reuter, Mike: "Spontaneous perception of melodies – hallucination or epilepsy?" Nervenheilkunde 2009 Apr 28: 217-221. ISSN 0722-1541 ^ Ozsarac M, Aksay E, Kiyan S, Unek O, Gulec FF (2012).
Peripheral physical signs of aortic insufficiency are related to the high pulse pressure and the rapid decrease in blood pressure during diastole due to blood returning to the heart from the aorta through the incompetent aortic valve, although the usefulness of some of the eponymous signs has been questioned: [23] Phonocardiograms detect AI by having electric voltage mimic the sounds the heart makes. [24] Characteristics - indicative of aortic regurgitation are as follow: Corrigan's pulse [25] De Musset's sign [26] Quincke's sign [26] Traube's sign [27] Duroziez's sign [26] Landolfi's sign [27] Becker's sign [27] Müller's sign [26] Mayne's sign [27] Rosenbach's sign [27] Gerhardt's sign [27] Hill's sign [27] Lincoln sign [27] Sherman sign [27] Classification [ edit ] The hemodynamic sequelae of AI are dependent on the rate of onset of AI. [28] Therefore, can be acute or chronic as follows: Play media Aortic regurgitation Acute aortic insufficiency In acute AI, as may be seen with acute perforation of the aortic valve due to endocarditis , there will be a sudden increase in the volume of blood in the left ventricle . ... Further reading [ edit ] Hamirani, Yasmin S.; Dietl, Charles A.; Voyles, Wyatt; Peralta, Mel; Begay, Darlene; Raizada, Veena (2012-08-28). "Acute Aortic Regurgitation" . Circulation . 126 (9): 1121–1126. doi : 10.1161/CIRCULATIONAHA.112.113993 .
Overview Aortic valve regurgitation — or aortic regurgitation — is a condition that occurs when your heart's aortic valve doesn't close tightly. As a result, some of the blood pumped out of your heart's main pumping chamber (left ventricle) leaks backward. The leakage may prevent your heart from efficiently pumping blood to the rest of your body. As a result, you may feel fatigued and short of breath. Aortic valve regurgitation can develop suddenly or over decades. Once aortic valve regurgitation becomes severe, surgery is often required to repair or replace the aortic valve.
Bender in 1922, who produced an electrocardiogram showing ventricular tachycardia evolving into ventricular fibrillation. [26] The re-entry mechanism was also advocated by DeBoer, who showed that ventricular fibrillation could be induced in late systole with a single shock to a frog heart. [27] The concept of "R on T ectopics" was further brought out by Katz in 1928. [28] This was called the “vulnerable period” by Wiggers and Wegria in 1940, who brought to attention the concept of the danger of premature ventricular beats occurring on a T wave . ... Critical Care Nursing Clinics of North America . 28 (3): 317–29. doi : 10.1016/j.cnc.2016.04.004 .
Overview Ventricular fibrillation is a type of irregular heart rhythm (arrhythmia). During ventricular fibrillation, the lower heart chambers contract in a very rapid and uncoordinated manner. As a result, the heart doesn't pump blood to the rest of the body. Ventricular fibrillation is an emergency that requires immediate medical attention. It's the most frequent cause of sudden cardiac death. Emergency treatment for ventricular fibrillation includes cardiopulmonary resuscitation (CPR) and shocks to the heart with a device called an automated external defibrillator (AED). Medications, implanted devices or surgery may be recommended to prevent episodes of ventricular fibrillation.
., parasitic worm) infection in the United States and Western Europe. [17] In the United States, a study by the Center of Disease Control reported an overall incidence rate of 11.4% among people of all ages. [17] Pinworms are particularly common in children, with prevalence rates in this age group having been reported as high as 61% in India, 50% in England, 39% in Thailand, 37% in Sweden, and 29% in Denmark. [17] Finger sucking has been shown to increase both incidence and relapse rates, [17] and nail biting has been similarly associated. [13] Because it spreads from host to host through contamination , enterobiasis is common among people living in close contact, and tends to occur in all people within a household. [10] The prevalence of pinworms is not associated with gender, [10] nor with any particular social class , race , or culture. [17] Pinworms are an exception to the tenet that intestinal parasites are uncommon in affluent communities. [17] History [ edit ] The earliest known instance of pinworms is evidenced by pinworm eggs found in coprolite , carbon dated to 7837 BC at western Utah . [12] Pinworm infection is not classified as a neglected tropical disease unlike many other parasitic worm infections. [25] Garlic has been used as a treatment in the ancient cultures of China, India, Egypt, and Greece. [26] Hippocrates (459–370 BC) mentioned garlic as a remedy against intestinal parasites. [27] German botanist Lonicerus (1564) recommended garlic against parasitic worms. [28] Applying raw garlic on skin may cause a chemical burn. [29] [30] Notes [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u "Pinworm Infection FAQs" . ... "Pinworms ( Enterobius vermicularis )" . Canadian Family Physician . 28 : 306–9. PMC 2306321 . PMID 21286054 .
Overview Pinworm infection is the most common type of intestinal worm infection in the United States and one of the most common worldwide. Pinworms are thin and white, measuring about 1/4 to 1/2 inch (about 6 to 13 millimeters) in length. Pinworm An adult pinworm generally is 1/4 to 1/2 inch (about 6 to 13 millimeters) in length. The most common symptom of infection is anal itching, particularly at night, as worms migrate to the host's anal area to lay their eggs. While the infected person sleeps, female pinworms lay thousands of eggs in the folds of skin surrounding the anus.
There are conflicting reports about whether PEX is associated with problems of the heart or brain; one study suggested no correlations [28] while other studies found statistical links with Alzheimer's disease , senile dementia , cerebral atrophy , chronic cerebral ischemia , stroke , transient ischemic attacks , heart disease , and hearing loss . [4] History [ edit ] Pseudoexfoliation syndrome (PEX) was first described by an ophthalmologist from Finland named John G. ... Archived from the original on 2011-09-28 . Retrieved 2011-08-21 . ... Dr. Crandall urges surgeons to probe for such changes early because it is surgically much easier to repair the phacodonesis before the lenses have dropped. ^ Roth M, Epstein DL (1980).
In a case-control study of 59 Finnish patients with XFS, 82 with XFG, 71 patients with primary open-angle glaucoma (see POAG, 137760), and 26 unaffected individuals, and in a family study of 28 patients with XFS or XFG and 92 unaffected relatives from an extended Finnish family, Lemmela et al. (2009) analyzed 3 SNPs in the LOXL1 gene, the 2 previously studied exonic SNPs rs1048661 and rs3825942, and a SNP in intron 1, rs2165241 (153456.0003).
However, even the modified 2002 CDC criteria do not identify women with subclinical disease. [28] Prevention [ edit ] Regular testing for sexually transmitted infections is encouraged for prevention. [29] The risk of contracting pelvic inflammatory disease can be reduced by the following: Using barrier methods such as condoms ; see human sexual behavior for other listings. [30] Seeking medical attention if you are experiencing symptoms of PID. [30] Using hormonal combined contraceptive pills also helps in reducing the chances of PID by thickening the cervical mucosal plug & hence preventing the ascent of causative organisms from the lower genital tract. [30] Seeking medical attention after learning that a current or former sex partner has, or might have had a sexually transmitted infection. [30] Getting a STI history from your current partner and strongly encouraging they be tested and treated before intercourse. [30] Diligence in avoiding vaginal activity, particularly intercourse, after the end of a pregnancy (delivery, miscarriage , or abortion ) or certain gynecological procedures, to ensure that the cervix closes. [30] Reducing the number of sexual partners. [25] Sexual monogamy . [31] Abstinence [30] Treatment [ edit ] Treatment is often started without confirmation of infection because of the serious complications that may result from delayed treatment. ... ISBN 9780071716727 . ^ a b "Pelvic Inflammatory Disease, 2010 STD Treatment Guidelines" . CDC. January 28, 2011. Archived from the original on July 15, 2015 .
Overview Pelvic inflammatory disease (PID) is an infection of the female reproductive organs. It most often occurs when sexually transmitted bacteria spread from your vagina to your uterus, fallopian tubes or ovaries. Pelvic inflammatory disease Pelvic inflammatory disease (PID) is an infection of one or more of the upper reproductive organs, including the uterus, fallopian tubes and ovaries. Untreated can cause scar tissue and pockets of infected fluid (abscesses) to develop in the reproductive tract, which can cause permanent damage. The signs and symptoms of pelvic inflammatory disease can be subtle or mild.
They found 23 different mutations, including 12 novel ones in 28 patients. Two novel mutations, 38T-C (L13P; 300839.0007) and 667T-C (C223R; 300839.0008), respectively, presented the first genetic evidence for the functional significance of the putative leader peptide sequence and for the functional significance at the carboxy terminal of the XLRS1 protein beyond the discoidin domain. Mutations in 25 of the 28 families were localized to exons 4-6, emphasizing the critical functional significance of the discoidin domain of the XLRS1 protein.
Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties.
A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages. Epidemiology X-linked retinoschisis prevalence is estimated to range between 1/5,000-1/25,000 males worldwide. Clinical description XLRS is a symmetrical bilateral macular disorder with onset in the first decade of life. It manifests with poor vision and reading difficulties. In severe cases, nystagmus may also be observed.
Summary Clinical characteristics. X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade. Diagnosis/testing. The diagnosis of XLRS is established in a male proband with suggestive ophthalmologic findings and a hemizygous pathogenic variant in RS1 identified by molecular genetic testing.
This is evidenced by the appearance of "diffuse," "fluffy," and "patchy" infiltrates described on imaging studies of climbers with known HAPE. [8] Although higher pulmonary arterial pressures are associated with the development of HAPE, the presence of pulmonary hypertension may not in itself be sufficient to explain the development of edema ; severe pulmonary hypertension can exist in the absence of clinical HAPE in subjects at high altitude. [8] [12] Diagnosis [ edit ] Expected SpO 2 and PaO 2 levels at altitude [3] Altitude SpO 2 PaO 2 (mm Hg) 1,500 to 3,500 m 4,900 to 11,500 ft about 90% 55-75 3,500 to 5,500 m 11,500 to 18,000 ft 75-85% 40-60 5,500 to 8,850 m 18,000 to 29,000 ft 58-75% 28-40 The diagnosis of HAPE is entirely based on symptoms and many of the symptoms overlap with other diagnoses. [8] [3] Before HAPE was understood it was commonly confused with pneumonia which resulted in inappropriate treatment. [ citation needed ] HAPE generally develops in the first 2 to 4 days of hiking at altitudes >2,500 meters (8,200 ft), and symptoms seem to worsen most commonly on the second night. [8] Initial symptoms are vague and include shortness of breath , decreased exercise ability, increased recovery time, fatigue, and weakness, especially with walking uphill. [8] [3] People then develop a dry, persistent cough, and often cyanosis of the lips. ... OCLC 64437370 . ^ 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 ab ac ad Gallagher, MD, Scott A.; Hackett, MD, Peter (August 28, 2018). "High altitude pulmonary edema" .
A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.
This new generator type was shown to detect and treat at least four out of five seizures and 60% of seizures were shown to be interrupted with this heart-rate triggered stimulation. [27] The earlier in the course of the seizure the stimulation occurred the quicker the seizure ended generally seizures were shown to be reduced by around 35% by stimulation [28] [29] Diets [ edit ] For over 100 years it has been known that a diet with a high fat content and a low carbohydrate content can reduce seizures. ... PMID 19889013 . ^ Bresnahan, Rebecca; Panebianco, Mariangela; Marson, Anthony G. (28 March 2019). "Brivaracetam add-on therapy for drug-resistant epilepsy" .
There has long been a debate over whether newborn infants with cerebral hypoxia should be resuscitated with 100% oxygen or normal air. [25] It has been demonstrated that high concentrations of oxygen lead to generation of oxygen free radicals , which have a role in reperfusion injury after asphyxia. [26] Research by Ola Didrik Saugstad and others led to new international guidelines on newborn resuscitation in 2010, recommending the use of normal air instead of 100% oxygen. [27] [28] Brain damage can occur both during and after oxygen deprivation. ... Florida Neonatal Neurologic Network . Retrieved 28 January 2012 . ^ Bellemare S (2006).
The tumors can be large and occur anywhere on the trunk. [28] There is a good prognosis with surgery. [29] Spayed rats have a decreased risk of developing mammary tumors. [30] In mice [ edit ] Most mammary tumors in mice are adenocarcinomas. ... There is frequently local tissue invasion and metastasis to the lungs. [28] A well known tumor virus of the mouse is the mouse mammary tumor virus , which may be the most common cause of this tumor in mice. [31] In other animals [ edit ] Ferrets: Mammary tumors are rare in ferrets .
Cognitive impairment has been described in 32/57 affected individuals with retinal vasculopathy and/or brain lesions. This ratio is higher (21/28) in those with more disease symptoms, implying a progressive decline in cognition. ... Liver Disease Liver disease was present in 28/40 affected individuals and usually manifests as mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT).
A number sign (#) is used with this entry because of evidence that retinal vasculopathy with cerebral leukodystrophy (RVCL) is caused by heterozygous mutation in the TREX1 gene (606609) on chromosome 3p21. Description Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007). Clinical Features Grand et al. (1988) reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis.
This article has multiple issues. Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Autosomal dominant retinal vasculopathy with cerebral leukodystrophy" – news · newspapers · books · scholar · JSTOR ( June 2016 ) ( Learn how and when to remove this template message ) This article needs editing for compliance with Wikipedia's Manual of Style . Please help improve it if you can. ( August 2015 ) ( Learn how and when to remove this template message ) This article's factual accuracy is disputed . Relevant discussion may be found on the talk page . Please help to ensure that disputed statements are reliably sourced . ( August 2015 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Autosomal dominant retinal vasculopathy with cerebral leukodystrophy Other names Retinal vasculopathy and cerebral leukoencephalopathy Diagram depicts the mode of inheritance of this condition Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as Cerebroretinal Vasculopathy, CRV, or Hereditary Vascular Retinopathy, HVR or Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke, HERNS) is an inherited condition resulting from a frameshift mutation to the TREX1 gene.
Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud's disease , kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism . Death often occurs 10-15 years after the first symptoms appear. RVCL-S is caused by genetic variations in the TREX1 gene, and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and may be confirmed by the results of genetic testing.
Description Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835). Sezary syndrome is a leukemic variant of mycosis fungoides defined by erythroderma with greater than 80% of the skin showing redness, adenopathy and greater than 1,000 circulating Sezary cells/microliter with a CD4+CD26- or CD4+CD7- phenotype. Sezary cells have a type 2 helper T cell cytokine profile. Sezary syndrome has a median overall survival time of only 2.4 years in patients with Sezary cells at a density of greater than 10,000 cells/microliter or 5.4 years in patients with 1,000-10,000 Sezary cells/microliter. Mycosis fungoides and Sezary syndrome are the most common cutaneous T-cell lymphomas. Sezary syndrome can arise de novo or can appear following years of chronic mycosis fungoides.
Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells , become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified. Mycosis fungoides may progress slowly through several stages, although not all people with the condition progress through all stages.
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform. People with Sézary syndrome develop a red, severely itchy rash (erythroderma) that covers large portions of their body.
Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. Epidemiology The annual incidence of MF and its variants is estimated at between 1/350,000 and 1/110,000, with classical MF accounting for about 80-90% of MF cases. The male to female ratio is 2:1. Classical MF predominantly affects adults and the elderly (median age at diagnosis: 55-60 years). Clinical description The disease first manifests by skin lesions consisting of flat patches, preferentially located asymmetrically on the buttocks and other sun-protected areas (lower trunk and thighs, and the breasts in women). Usually, patches are hypo- or hyperpigmented in dark-skinned individuals.
Mycosis fungoides is a disease in which T-cell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma . Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually exposed to the sun. The rash may last for months or years without causing any symptoms. Over time, a thin, reddened, eczema-like rash may develop, followed by thickened, red patches of skin. Finally, tumors form which may develop into ulcers and become infected. Mycosis fungoides is difficult to cure. Treatment is usually palliative, with the intention of relieving symptoms and improving the quality of life.
Finkelstein et al. (1989, 1990) described 21 male patients who presented after age 28 days with what the authors defined as late-onset OTC deficiency. ... They divided their patients into 3 groups, based on clinical manifestations and age of onset: group 1 (0 to 28 days), group 2 (29 days to 5 years), and group 3 (greater than 5 years).
Summary Clinical characteristics. Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are typically normal at birth but become symptomatic from hyperammonemia on day two to three of life and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant by age six months to improve quality of life. Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life.
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females.
Urea cycle disorder Ornithine transcarbamylase deficiency Other names OTC deficiency The urea cycle . The enzyme OTC, labeled prominently in the center of the mitochondria, is deficient in patients with this disorder. Specialty Medical genetics , metabolic syndrome , pediatrics Differential diagnosis Orotic aciduria ; other urea cycle disorders Treatment Low protein diet; dialysis; liver transplant Medication Sodium benzoate Prognosis In severe cases, death may occur within one week of birth. In mild cases, diagnosis may not be made until middle age. [1] Frequency 1:60,000 to 1:72,000 Ornithine transcarbamylase deficiency is the most common urea cycle disorder in humans. It is an inherited disorder which causes toxic levels of ammonia to build up in the blood. [2] Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle .
A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae. Epidemiology Ornithine transcarbamylase deficiency (OTCD) is the most common type of urea cycle disorder. Worldwide prevalence estimates range between 1/56,500 to 1/113,000 live births. Clinical description Males with the severe, neonatal-onset type are normal at birth but develop poor sucking, hypotonia and lethargy after a few days, rapidly progressing into somnolence and coma.
Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood. Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures, or coma. When not treated, the disease can lead to development delay, intellectual disability, and liver damage.
