Most commonly, the disorder is due to idiopathic occipital epilepsies in childhood, and other rare syndromes affecting the occipital area is Sturge-Weber syndrome , adult forms of Rasmussen’s syndrome , and more. [8] Mechanism/Pathophysiology [ edit ] Technically speaking, occipital epilepsy is caused by the disruption of the auto-regulation of the posterior cerebral circulation, with resulting cerebral oedema in the supra-tentorial white matter and cortico-medullary region. [8] Normally, the neurons are constantly communicating with one another in the brain tissue, via electrical signals. ... OE accounts for 5-10% of epilepsies, as it is a rare syndrome. Again, age of onset varies based on the classification of OE a patient has. For Gastaut syndrome, typical onset of symptoms is between ages three and seven, while Pan. has a later onset of 6–13 years old on average. [2] Research Directions [ edit ] Currently, there are several studies going on researching the effectiveness of anti-epileptic drugs. ... CS1 maint: extra text: authors list ( link ) ^ a b c d e f "Panayiotopoulos syndrome | Epilepsy Action" . www.epilepsy.org.uk . ... "Occipital epilepsies: identification of specific and newly recognized syndromes" . Brain- A Journal of Neurology – via PubMed. ^ a b "Epilepsy and Seizures" .
Contents 1 Types 1.1 In acute leukemia 1.2 In myeloproliferative or myelodysplastic syndromes 1.3 In Eosinophilic leukemia 1.4 Primary chloroma 2 Location and symptoms 3 Diagnosis 4 Prognostic significance 5 Treatment 6 History 7 See also 8 References 9 External links Types [ edit ] In acute leukemia [ edit ] Chloromas are rare; exact estimates of their prevalence are lacking, but they are uncommonly seen even by physicians specializing in the treatment of leukemia . ... In one review of 24 patients who developed isolated chloromas after treatment for acute myeloid leukemia, the mean interval until bone marrow relapse was 7 months (range, 1 to 19 months). [4] In myeloproliferative or myelodysplastic syndromes [ edit ] Chloromas may occur in patients with a diagnosis of myelodysplastic syndrome (MDS) or myeloproliferative syndromes (MPS) (e.g. chronic myelogenous leukemia (CML), polycythemia vera , essential thrombocytosis , or myelofibrosis ). ... Skin involvement typically appears as violaceous, raised, nontender plaques or nodules, which on biopsy are found to be infiltrated with myeloblasts [6] Note that leukemia cutis differs from Sweet's syndrome , in which the skin is infiltrated by mature neutrophils in a paraneoplastic process. ... Patients with "preleukemic" conditions, such as myelodysplastic syndromes or myeloproliferative syndromes, who develop a chloroma are often treated as if they have transformed to acute leukemia. ... PMID 18606981 . [ permanent dead link ] External links [ edit ] Classification D ICD - 10 : C92.3 ICD - 9-CM : 205.3 ICD-O : 9930/3 MeSH : D023981 v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia
Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site. Epidemiology The exact prevalence is unknown. Clinical description The clinical presentation depends on the site of involvement. Commonly involved sites of occurrence include the subperiosteal bone structures of the skull, paranasal sinuses, sternum, ribs, vertebrae, pelvis, as well as the lymph nodes and skin. Rare sites include the pancreas, heart, brain, mouth, breast, gastrointestinal and biliary tract, prostate, urinary bladder and gynecologic tract.
Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. Down syndrome and fragile X syndrome are examples of syndromic intellectual disabilities. ... Examples of such accidents are development of an extra chromosome 18 ( trisomy 18 ) and Down syndrome , which is the most common genetic cause. [7] Velocardiofacial syndrome and fetal alcohol spectrum disorders are the two next most common causes. [6] However, there are many other causes. ... The most prevalent genetic conditions include Down syndrome , Klinefelter syndrome , Fragile X syndrome (common among boys), neurofibromatosis , congenital hypothyroidism , Williams syndrome , phenylketonuria (PKU), and Prader–Willi syndrome . ... Mongolism and Mongoloid idiot were medical terms used to identify someone with Down syndrome , as the doctor who first described the syndrome, John Langdon Down , believed that children with Down syndrome shared facial similarities with Blumenbach's " Mongolian race ".
Tourism Video games COVID-19 Portal v t e Long COVID , also known as chronic COVID syndrome ( CCS ) and long-haul COVID , [1] [2] [3] is an informal name for the condition characterised by long-term sequelae —persisting after the typical convalescence period—of coronavirus disease 2019 (COVID-19). ... It includes both ongoing symptomatic COVID-19 (from 4 to 12 weeks) and post-COVID-19 syndrome (12 weeks or more)". [19] NICE defines post-COVID-19 syndrome as "Signs and symptoms that develop during or after an infection consistent with COVID‑19, continue for more than 12 weeks and are not explained by an alternative diagnosis. ... Patients who had been more severely ill still showed severe incapacity in lung function. [32] Among the 1733 patients who had been discharged from hospital and followed up about six months later, the most common symptoms were fatigue or muscle weakness (63%), sleep difficulties (26%), and anxiety or depression (23%). [33] Cause [ edit ] No one knows why most people recover fully within two to three weeks and others experience symptoms for weeks or months longer. [4] An early analysis by the United Kingdom's National Institute for Health Research suggests that ongoing long COVID symptoms may be due to four syndromes: [20] [34] permanent damage to the lungs and heart , post-intensive care syndrome , post-viral fatigue syndrome , and continuing COVID-19 symptoms . ... "Chronic COVID Syndrome: Need for an appropriate medical terminology for Long-COVID and COVID Long-Haulers" . ... "Long covid could be four different syndromes, review suggests" . BMJ . 371 : m3981. doi : 10.1136/bmj.m3981 .
Bakrania et al. (2008) remarked that although the SIX6 gene, which resides in the same 14q22-q23 region as BMP4 and OTX2, is expressed in pituitary and so could potentially explain the hypopituitarism in a contiguous gene syndrome, it does not appear to be important in human anophthalmia-microphthalmia (Aijaz et al., 2004). Reis et al. (2011) analyzed the BMP4 coding region in 133 patients with various ocular conditions, including 60 with clinical anophthalmia/microphthalmia (34 syndromic), 38 with anterior segment anomalies, 16 with cataract, 4 with coloboma, 5 with high myopia, and 10 with other disorders. In 3 probands with syndromic microphthalmia, they identified heterozygosity for a 158-kb deletion involving only the BMP4 gene (112262.0006), a nonsense mutation (R198X; 112262.0007), and a frameshift mutation (112262.0008), respectively; the affected sister of the proband with the frameshift mutation carried both the frameshift and a missense mutation (H121R; 112262.0009).
Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Although the authors found 3 other well-substantiated familial occurrences of the disorder, none of them encompassed successive generations. Budd-Chiari syndrome (600880), characterized by obstruction and occlusion of the suprahepatic veins, is a rare but typical complication in polycythemia vera patients. Cario et al. (2003) described a third pediatric case of Budd-Chiari syndrome as the initial symptom of familial polycythemia vera in an 11-year-old girl; the patient's grandmother also had polycythemia vera. ... Pathogenesis Sozer et al. (2009) identified somatic homozygous JAK2 V617F mutations in liver venule endothelial cells and hematopoietic cells from 2 unrelated PV patients who developed Budd-Chiari syndrome. However, analysis of endothelial cells from a third PV patient with Budd-Chiari syndrome and in 2 patients with hepatoportal sclerosis without PV showed only wildtype JAK2. ... Sozer et al. (2009) concluded that finding V617F-positive endothelial cells and hematopoietic cells from PV patients who developed Budd-Chiari syndrome indicates that endothelial cells are involved by the PV malignant process, and suggested that the disease might originate from a common cell of origin in some patients. ... INHERITANCE - Somatic mutation CARDIOVASCULAR Heart - Myocardial ischemia Vascular - Thrombosis - Thromboembolic events - Cerebral ischemia - Budd-Chiari syndrome ABDOMEN Spleen - Splenomegaly Gastrointestinal - Gastrointestinal bleeding NEUROLOGIC Central Nervous System - Cerebral ischemia - Cerebral hemorrhage HEMATOLOGY - Increased red blood cell mass - Increased hemoglobin - Increased hematocrit - Increased myeloid precursor cells - Increased megakaryocyte precursor cells - Leukocytosis - Thrombocytosis - Thrombocytopenia LABORATORY ABNORMALITIES - Normal or decreased serum erythropoietin (EPO, 133170 ) - Increased PRV-1 ( 162860 ) mRNA - Erythroid colony-forming units show spontaneous growth in the absence of EPO - Normal arterial oxygen saturation MISCELLANEOUS - Mean age at onset 57-60 years - Children rarely develop the disorder - Familial cases are rare and show incomplete penetrance - Distinct disorder from familial erythrocytosis (ECYT1, 133100 ) MOLECULAR BASIS - Caused by somatic mutation in the janus kinase 2 gene (JAK2, 147796 ) ▲ Close
Complications may be associated including arterial thrombosis (in cerebrovascular, myocardial or peripheral territories), angina pectoris or intermittent claudications, or venous thromboses including deep vein thrombosis, pulmonary embolism, splanchnic thrombosis (portal vein thrombosis and Budd-Chiari syndrome; see these terms) and bleeding including gum bleeding, ecchymoses and gastrointestinal bleeding. ... Myelofibrosis and acute leukemia or a myelodysplastic syndrome occur in a minority of patients, usually late in the disease.
A major thrombotic complication (e.g. heart attack , stroke , deep venous thrombosis , or Budd-Chiari syndrome ) may sometimes be the first symptom or indication that a person has polycythemia vera. ... As a consequence of the above, people with untreated polycythemia vera are at a risk of various thrombotic events ( deep venous thrombosis , pulmonary embolism ), heart attack and stroke , and have a substantial risk of Budd-Chiari syndrome (hepatic vein thrombosis), [13] or myelofibrosis . ... One study found the median age at diagnosis to be 60 years, [7] while a Mayo Clinic study in Olmsted County, Minnesota found that the highest incidence was in people aged 70–79 years. [25] The overall incidence in the Minnesota population was 1.9 per 100,000 person-years, and the disease was more common in men than women. [25] A cluster around a toxic site was confirmed in northeast Pennsylvania in 2008. [26] See also [ edit ] Capillary leak syndrome Hematopoietic ulcer References [ edit ] ^ a b "polycythemia vera." at Encyclopædia Britannica. 2010. ... "Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis". ... "Treatment-related risk factors for transformation to acute myeloid leukemia and myelodysplastic syndromes in myeloproliferative neoplasms" .
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream (erythrocytosis). Affected people may also have excess white blood cells and platelets. Conditions where the body makes too many of these cells are known as myeloproliferative neoplasms. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. If a blood clot occurs in the veins deep in the arms and the legs, it is known as deep vein thrombosis (DVT).
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs.
Overview Polycythemia vera (pol-e-sy-THEE-me-uh VEER-uh) is a type of blood cancer. It causes your bone marrow to make too many red blood cells. These excess cells thicken your blood, slowing its flow, which may cause serious problems, such as blood clots. Polycythemia vera is rare. It usually develops slowly, and you might have it for years without knowing. Often the condition is found during a blood test done for another reason. Without treatment, polycythemia vera can be life-threatening. But proper medical care can help ease signs, symptoms and complications of this disease.
It was clearly distinct from other craniofacial syndromes with involvement of the limbs. The hands were involved in a mitten-like syndactyly resembling those of Apert syndrome (101200). However, the absence of significant bony syndactyly and other bony anomalies distinguished the hands and feet in this family from those seen in Apert syndrome.
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot.
A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.
Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes , in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people.
Candida hypersensitivity systemic candidiasis, chronic candidiasis Pseudomedical diagnosis Risks Nocebo This article is part of a series on Alternative medicine General information Alternative medicine Alternative veterinary medicine Quackery (Health fraud) History of alternative medicine Rise of modern medicine Pseudoscience Antiscience Skepticism Skeptical movement National Center for Complementary and Integrative Health Terminology of alternative medicine Therapeutic nihilism Fringe medicine and science Acupressure Acupuncture Alkaline diet Anthroposophic medicine Apitherapy Applied kinesiology Aromatherapy Auriculotherapy Bates method Black salve Bodywork Bonesetter Bowen technique Breathwork Fake COVID-19 treatments Cancer treatments Charcoal cleanse Chiropractic Chiropractic treatment techniques Vertebral subluxation Christian Science Chromotherapy Colon cleansing Coffee enema Colorpuncture Colloidal silver Craniosacral therapy Crystal healing Cupping therapy Dental amalgam controversy Detoxification Foot detox Ear candling Energy medicine Esoteric energy Therapeutic touch Fabunan Antiviral Injection Facilitated communication Feldenkrais Method Functional medicine Hair analysis Herbal medicine Holistic dentistry Hologram bracelet Homeopathy Bach flower remedies Biological terrain assessment Hypnotherapy Iridology Ionized jewelry Jilly Juice Lightning Process Lymphotherapy Medical intuitive Mesmerism Magnet therapy Manual therapy Megavitamin therapy Mind–body interventions MMS Myofascial release NAET Naturopathy Oil pulling Orgone Orthomolecular medicine Orthopathy Osteomyology Osteopathy Ozone therapy Parapsychology Phrenology Psychic surgery Psychodermatology Radionics Rapid prompting method RBOP Reiki Reflexology Rolfing Scientific racism ThetaHealing Thought Field Therapy Urophagia Vaginal steaming Vision therapy Vitalism Young blood transfusion Zero balancing Conspiracy theories ( list ) Big Pharma conspiracy theory HIV/AIDS denialism OPV AIDS hypothesis Anti-vaccination Vaccines and autism MMR vaccine and autism Water fluoridation controversy GMO conspiracy theories Misinformation related to the COVID-19 pandemic Classifications Alternative medical systems Mind–body intervention Biologically-based therapy Manipulative methods Energy therapy Traditional medicine African Muti Southern Africa Ayurveda Ayurvedic acupressure Dosha Maharishi Vedic Approach to Health Balneotherapy Brazilian Bush medicine Cambodian Chinese Blood stasis Chinese herbology Dit Da Gua sha Gill plate trade Meridian Moxibustion Pressure point Qi San Jiao Tui na Zang-fu Chumash Curandero Faith healing Iranian Jamu Kambo Japanese Korean Mien Shiang Mongolian Prophetic medicine Shamanism Shiatsu Siddha Sri Lankan Thai massage Tibetan Unani Vietnamese Diagnoses Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome v t e Candida hypersensitivity is a pseudoscientific disease promoted by William G. ... Orian Truss, M.D., [3] Crook proposed the idea that a condition he termed systemic candidiasis, or Candida hypersensitivity , was responsible for a long list of common conditions and non-specific symptoms including fatigue , asthma , psoriasis , sexual dysfunction , and many others. [2] The list of symptoms is similar to that of multiple chemical sensitivity . [4] Many patients presenting with symptoms of environmental sensitivity claim to suffer from multiple "fashionable" syndromes. [5] Criticism [ edit ] The American Academy of Allergy, Asthma, and Immunology strongly criticized the concept of "candidiasis hypersensitivity syndrome" and the diagnostic and treatment approaches its proponents use. ... 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One retrospective observational study evaluated 328 selected patients from ages 16 to 57 years who had prolonged video-electroencephalogram (EEG) monitoring for medically intractable epilepsy and focal seizure onset; those with nonepileptic seizures , status epilepticus , and Lennox-Gastaut syndrome were excluded. [5] The following observations were made: [ citation needed ] PP occurred in 44 patients (13.4 percent) PP was always unilateral and always contralateral to the seizure focus The mean duration of PP was 174 seconds (range 11 seconds to 22 minutes) Of all seizures followed by PP, the following features were noted: [ citation needed ] Obvious ictal motor activity was seen in 78 percent (Todd's paresis is more common after any clonic seizure activity) [3] Very slight ictal motor activity was seen in 10 percent No ictal motor activity was seen in nearly 10 percent The most common ictal lateralizing sign was unilateral clonic activity in 56 percent Ictal dystonic posturing occurred in 48 percent Ictal limb immobility occurred in 25 percent The results of this study are valuable because few other data exist on the frequency, duration, and seizure characteristics associated with PP. ... PMID 7555983 . ^ Mikati M, Maguire H, Barlow C, Ozelius L, Breakefield X, Klauck S, Korf B, O'Tuama S, Dangond F (1992). "A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations". ... PMID 16456124 . ^ Nelson K, Ellenberg J; Prognosis in Children With Febrile Seizures Paediatrics; 61, 5: 720-727 External links [ edit ] Classification D ICD - 10 : G83.8 ICD - 9-CM : 344.89 MeSH : D010243 v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK)
Finally there is a lower complication rate, although obstructive sleep apnoea syndrome (OSAS) is associated. [2] [18] [24] Both techniques are used often, but there is no standard operation.