In ITP the bone marrow is normal, and bone marrow aspiration is indicated mainly in patients over 60 years' of age, in case of anomalies of other cell lines, when thrombocytopenia is refractory to first-line treatments, or when other diagnoses are suspected such as myelodysplastic syndromes (MDS). In addition to the morphologic assessment, cytogenetic testing should be considered if an MDS is suspected. ... ITP can be associated with genetic immunodeficiency syndromes (typically common variable immunodeficiency) and is observed mainly in children and young adults.
Description Autoimmune thrombocytopenic purpura is characterized by a low platelet count, normal bone marrow, and the absence of other causes of thrombocytopenia. It is principally a disorder of increased platelet destruction mediated by autoantibodies to platelet-membrane antigens (George et al., 1994). Clinical Features In children, AITP is usually acute and self-limited, whereas in adults, it is most often chronic. The presenting features are bruising, petechiae, and/or mucosal bleeding (epistaxis, hematuria, and rarely intracerebral hemorrhage) (George et al., 1994). Cines and Blanchette (2002) and Imbach et al. (2002) provided comprehensive reviews.
Immune thrombocytopenia is a disorder characterized by a blood abnormality called thrombocytopenia, which is a shortage of blood cells called platelets that are needed for normal blood clotting. Affected individuals can develop red or purple spots on the skin caused by bleeding just under the skin's surface. Small spots of bleeding under the skin are called purpura and larger spots are called ecchymoses. People with immune thrombocytopenia can have significant bleeding episodes, such as nose bleeds (epistaxis) or bleeding in the moist lining (mucosae) of the mouth. In severe cases, individuals may have gastrointestinal bleeding or blood in the urine or stool, or heavy and prolonged menstrual bleeding (menorrhagia).
Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation . With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.
Description Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. ... For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). Mapping To identify genetic variants predisposing to idiopathic and HIV-1-associated focal segmental glomerulosclerosis (FSGS), Kopp et al. (2008) carried out an admixture mapping linkage disequilibrium genome scan in 190 African American individuals with FSGS and 222 controls. ... Nomenclature In the literature, the clinical term 'nephrotic syndrome' (NPHS) and the pathologic term 'focal segmental glomerulosclerosis' (FSGS) have often been used to refer to the same disease entity.
Among 1,419 patients with acute coronary syndrome on dual antiplatelet treatment, including clopidogrel and aspirin, Giusti et al. (2007) found an association between carriers of the CYP2C19*2 polymorphism and increased residual platelet reactivity, as evaluated by platelet aggregation studies. ... Pare et al. (2010) genotyped patients from 2 large randomized trials that showed that clopidogrel, as compared with placebo, reduced the rate of cardiovascular events among patients with acute coronary syndromes and among patients with atrial fibrillation. ... Among 5,059 genotyped patients with acute coronary syndromes, clopidogrel as compared with placebo significantly reduced the rate of the primary efficacy outcome, irrespective of the genetically determined metabolizer phenotype.
Clopidogrel resistance is a condition in which the drug clopidogrel is less effective than normal in people who are treated with it. Clopidogrel (also known as Plavix) is an antiplatelet drug, which means that it prevents blood cells called platelets from sticking together (aggregating) and forming blood clots . This drug is typically given to prevent blood clot formation in individuals with a history of stroke ; heart attack; a blood clot in the deep veins of the arms or legs (deep vein thrombosis ); or plaque buildup (atherosclerosis ) in the blood vessels leading from the heart, which are opened by placement of a small thin tube (stent). People with clopidogrel resistance who receive clopidogrel are at risk of serious, sometimes fatal, complications. These individuals may have another heart attack or stroke caused by abnormal blood clot formation; those with stents can develop blood clots (thromboses) within the stents, impeding blood flow.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... Bartlett et al. (2005) applied the posterior probability of linkage method to the collection of families with autism studied by Yonan et al. (2003) and analyzed 6 clinically defined phenotypic subsets (e.g., autism, Asperger syndrome (608638), pervasive developmental delay, phrase-speech delay).
Description Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, 118220) and/or axonal CMT (see, e.g., CMT2A1, 118210) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; 182960) with intact sensation. ... Most patients had hypo- or areflexia, and several had symptoms consistent with carpal tunnel syndrome. None had hyperelastic skin, and only the oldest patient had age-related macular degeneration at age 81 years. ... Auer-Grumbach et al. (2011) concluded that the overall phenotype in these patients represented a novel syndrome associated with FBLN5 gene mutations, including presence of peripheral neuropathy with or without ARMD and occasionally hyperelastic skin, with intrafamilial variability.
Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.
Cytogenetics Ladinsky et al. (2014) reported a male infant with hypereosinophilic syndrome (607685), lower extremity hemimelia with mesomelic shortening, and sensorineural hearing loss. ... The findings were similar to those described by Savarirayan et al. (2000), with the addition of central nervous system manifestations and urogenital anomalies, but the phenotype was also reminiscent of a severe form of Nievergelt syndrome. Array comparative genomic hybridization studies showed a heterozygous 500-kb deletion on chromosome 2q11.2 containing the LAF4 gene (601464). ... Kraft et al. (2015) suggested that the phenotype in the patient was a Nievergelt-like syndrome, and concluded that the truncated protein exerts a dominant-negative effect leading to the abnormalities of bone formation.
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
If the condition occurs only during the sun-less winter months then vitamin D supplement might be an effective treatment. [ citation needed ] Epidemiology [ edit ] The prevalence of nummular dermatitis in the United States is approximately 2 per 1,000. [12] It is considered a disease of adulthood, for it is rare in children. [13] See also [ edit ] List of cutaneous conditions Sulzberger–Garbe syndrome References [ edit ] ^ a b Cowan, M. ... External links [ edit ] Classification D ICD - 10 : L30.0 ICD - 9-CM : 692.9 DiseasesDB : 33703 External resources MedlinePlus : 000870 eMedicine : derm/298 v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji
While it resolves if blood sugar control is reestablished, it is believed repeated occurrences promote the formation of cataracts (which are not temporary). [7] Retinopathy : If left untreated, any type of retinopathy (including diabetic retinopathy , hypertensive retinopathy , sickle cell retinopathy etc.) can damage retina and lead to visual field defects and blindness. [8] Hypervitaminosis A : Excess consumption of vitamin A can cause blurred vision. [9] Macular degeneration : Macular degeneration cause loss of central vision, blurred vision (especially while reading), metamorphopsia (seeing straight lines as wavy), and colors appearing faded. [10] Macular degeneration is the third main cause of blindness worldwide, and is the main cause of blindness in industrialised countries. [11] Eye infection , inflammation , or injury . Sjögren's syndrome , a chronic autoimmune inflammatory disease that destroys moisture producing glands, including lacrimal gland and leads to dry eye and visual blur. [12] Floaters :Tiny particles drifting across the eye. ... Retrieved 2020-09-02 . ^ Coursey, Terry G; de Paiva, Cintia S (2014-08-04). "Managing Sjögren's Syndrome and non-Sjögren Syndrome dry eye with anti-inflammatory therapy" .
Contents 1 Causes 2 Focal dystonia 3 Embouchure overuse syndrome 4 Mouthpiece pressure 5 Diagnosis 6 Recovery 7 Additional information 8 References Causes [ edit ] There are a variety of causes for embouchure collapse, mainly focal dystonia or Embouchure Overuse Syndrome; also, the topic of mouthpiece pressure (whether or not excessive pressure is damaging to the embouchure) is hotly debated by brass players. ... For most brass players, diagnosis with focal dystonia signals the end of their careers. [1] Embouchure overuse syndrome [ edit ] This is a far more common cause of embouchure collapse.
., myasthenia gravis , amyotrophic lateral sclerosis , Guillain–Barré syndrome , muscular dystrophy ), or airway obstruction related to asthma or chronic obstructive pulmonary disease (COPD) exacerbation. ... Chronic respiratory acidosis also may be secondary to obesity hypoventilation syndrome (i.e., Pickwickian syndrome ), neuromuscular disorders such as amyotrophic lateral sclerosis , and severe restrictive ventilatory defects as observed in interstitial lung disease and thoracic deformities.
It is also known as cognitive dysfunction syndrome ( CDS ). Alzheimer's disease and dementia in humans are diseases with comparable symptoms and pathology . [1] [2] [3] Contents 1 Causes 2 Symptoms 3 Other conditions with similar symptoms 4 Prevention 5 Treatment 6 See also 7 References 8 Further reading Causes [ edit ] The exact cause of FCD is currently unknown. ... Treatment [ edit ] The disease is little-researched and thus considered incurable at the moment, but its symptoms can be managed with treatment. [7] Cognitive dysfunction syndrome in dogs is an established diagnosis, but there has been limited research for cats and treatment options are limited. [13] Drugs used for treatment of the disease have been approved for use in dogs . ... 4 Signs of Cognitive Dysfunction Syndrome" . www.vetstreet.com . pp. 1–2 .
Find sources: "Psychosocial short stature" – news · newspapers · books · scholar · JSTOR ( January 2010 ) ( Learn how and when to remove this template message ) Psychosocial short stature Other names Psychosocial dwarfism, [1] [2] psychogenic or stress dwarfism, Kaspar Hauser syndrome [3] Specialty Endocrinology Psychosocial short stature ( PSS ) is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress . ... Retrieved January 17, 2010 . ^ Money, John (July 1992). The Kaspar Hauser Syndrome of "Psychosocial Dwarfism": Deficient Statural, Intellectual, and Social Growth Induced by Child Abuse . ... PMID 2441679 . v t e Growth and height disorder due to endocrine malfunction Dwarfism Primordial dwarfism Laron syndrome Psychosocial Ateliosis Gigantism
This tick was first proposed as a possible vector of disease in 1984, [2] and the illnesses associated with the tick called "Lyme-like disease", [3] but it was not recognized to be distinct from Lyme disease until the late 1990s. [4] [1] Several studies have failed to detect Borrelia burgdorferi , which is the causative agent of Lyme disease, in patients from the southern United States. [5] [6] This disease may be caused by the related bacterium Borrelia lonestari , [7] [8] which is a spirochete first isolated in culture in 2004. [9] However, this conclusion is controversial since the spirochete is not detected in all cases of the syndrome, [6] which has led some authors to argue that the illness is not caused by a bacterial pathogen. [10] Treatment [ edit ] Infections are treated with antibiotics, particularly doxycycline , and the acute symptoms appear to respond to these drugs. [8] [11] Prognosis [ edit ] No serious long-term effects are known for this disease, [11] but preliminary evidence suggests, if such symptoms do occur, they are less severe than those associated with Lyme disease. [7] See also [ edit ] Borrelia Zoonosis References [ edit ] ^ a b Kirkland KB, Klimko TB, Meriwether RA, et al. (1997). ... External links [ edit ] Classification D ICD - 9-CM : 088.89 DiseasesDB : 33924 Southern Tick-Associated Rash Illness (STARI) Home Page Centers for Disease Control STARI Fact Sheet Florida Department of Health Southern Tick-Associated Rash Illness (STARI) SCWDS Briefs , January 2003, Vol.18, No.4 v t e Tick-borne diseases and infestations Diseases Bacterial infections Rickettsiales Anaplasmosis Boutonneuse fever Ehrlichiosis ( Human granulocytic , Human monocytotropic , Human E. ewingii infection ) Scrub typhus Spotted fever rickettsiosis Pacific Coast tick fever American tick bite fever rickettsialpox Rocky Mountain spotted fever ) Spirochaete Baggio–Yoshinari syndrome Lyme disease Relapsing fever borreliosis Thiotrichales Tularemia Viral infections Bhanja virus Bourbon virus Colorado tick fever Crimean–Congo hemorrhagic fever Heartland bandavirus Kemerovo tickborne viral fever Kyasanur Forest disease Omsk hemorrhagic fever Powassan encephalitis Severe fever with thrombocytopenia syndrome Tete orthobunyavirus Tick-borne encephalitis Protozoan infections Babesiosis Other diseases Tick paralysis Alpha-gal allergy Southern tick-associated rash illness Infestations Tick infestation Species and bites Amblyomma Amblyomma americanum Amblyomma cajennense Amblyomma triguttatum Dermacentor Dermacentor andersoni Dermacentor variabilis Ixodes Ixodes cornuatus Ixodes holocyclus Ixodes pacificus Ixodes ricinus Ixodes scapularis Ornithodoros Ornithodoros gurneyi Ornithodoros hermsi Ornithodoros moubata Other Rhipicephalus sanguineus
Clinical psychologist Richard Noll introduced this term and was coined after the mental patient who assisted Dracula in Bram Stoker 's novel. [6] Auto-vampirism is typically the first stage of clinical vampirism , or more commonly known as Renfield's Syndrome. [4] It is, however, not recognized in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR 2000). [7] Development [ edit ] The habit of drinking ones own blood usually begins during childhood, most commonly as a result of a traumatic event that results in a person linking pleasure with violence and more specifically blood. [8] It develops by first scraping or cutting one's own skin to extract and ingest blood, later resulting in learning where and how to cut and open major veins and arteries for larger amounts of blood. [9] Sometimes, they will also store their own blood for later consumption or just because they like to look at it. ... "Vampirism: clinical vampirism--Renfield's syndrome" . Annals of the American Psychotherapy Association . 13 (4). ... Retrieved December 18, 2018 . ^ Olry, Régis; Haines, Duane E. (October 2011). "Renfield's Syndrome: A Psychiatric Illness Drawn from Bram Stoker'sDracula".
Asymptomatic carrier fish and contaminated water provide reservoirs for disease. [5] Transmission is mainly via horizontal gene transfer , but vertical transmission can also occur. [4] BCWD may be referred to by a number of other names including cold water disease, peduncle disease, [6] fit rot, tail rot and rainbow trout fry mortality syndrome. Contents 1 Causes and Symptoms 2 Transmission 3 Prevention and Treatment 4 See also 5 References 6 External links Causes and Symptoms [ edit ] The sweetfish which was infected with cold water disease Fish infected with the pathogen Flavobacterium psychrophilum suffer from tissue erosion, jaw ulcerations, inflammation, and behavioral issues. [7] Fins may appear dark, torn, split, ragged, frayed and may even be lost completely. [8] Symptoms begin with tissue erosion, especially on the caudal fin. ... It is characterized by erratic “corkscrew” swimming, blackened tails and spinal deformities. [2] [4] In rainbow trout fry syndrome , acute disease with high mortality rates occurs. ... Flavobacterium psychrophilum , cause of Bacterial Cold-Water Disease and Rainbow Trout Fry Syndrome (PDF) . ^ a b c Barnes, Michael E. (2011-08-11).