Among the other 3, 1 had a phenotype compatible with Walker-Warburg syndrome (WWS, see 236670) and 2 had a phenotype compatible with muscle-eye-brain disease (MEB).
Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
. ^ a b Eberhardt CS, Zand T, Ceroni D, Wildhaber BE, La Scala G (May 2016). "The Seatbelt Syndrome-Do We Have a Chance?: A Report of 3 Cases With Review of Literature".
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.
Somatic Mutations Lee-Jones et al. (2004) identified 3 reports of chordomas found in patients with tuberous sclerosis complex (TSC; see 191100), an autosomal dominant syndrome characterized by hamartomas in multiple organs, epilepsy, mental retardation, and behavioral problems.
Not to be confused with Chondroma . Chordoma MRI of extensive clival chordoma in 17-year-old male patient, axial view. Tumor in the nasopharynx extending from nasal cavity to brainstem posteriorly is clearly visible. Specialty Oncology Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord . The evidence for this is the location of the tumors (along the neuraxis ), the similar immunohistochemical staining patterns, and the demonstration that notochordal cells are preferentially left behind in the clivus and sacrococcygeal regions when the remainder of the notochord regresses during fetal life. In layman's terms, chordoma is a type of spinal cancer. [1] Contents 1 Presentation 2 Genetics 3 Mechanism 4 Diagnosis 4.1 Classification 5 Treatment 6 Prognosis 7 Epidemiology 8 Society 9 Notable cases 10 References 11 External links Presentation [ edit ] Sacral Bone Chordoma Chordomas can arise from bone in the skull base and anywhere along the spine.
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. Epidemiology They are predominantly found in adults, and comprise 0.2% of all central nervous system tumors and 2-4% of all primary bone neoplasms, with an estimated prevalence of 1 in 2 million people and a male-to-female ratio of 2:1. Clinical description The clinical presentation depends entirely on the location of the chordoma. The main possible locations are the sacrum, intracranially at the clivus and along the spinal axis. When the tumor is intracranial, the most common presenting symptoms are diplopia, swallowing problems and headache.
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas typically present in adults between the ages of 40 and 70 and can occur anywhere along the spine. About half of all chordomas occur at the bottom of the spine (sacrum); about one third occur at the base of the skull. The remaining cases of chordomas form in the spine at the level of the neck, chest, or other parts of the lower back.
On rare occasions, it can produce features similar to primary biliary cirrhosis due to progressive destruction of small bile ducts ( vanishing duct syndrome ). Causes: (a) Bland: Oral contraceptive pills , anabolic steroid , androgens (b) Inflammatory: Allopurinol , co-amoxiclav , carbamazepine (c) Ductal: Chlorpromazine , flucloxacillin Steatosis [ edit ] Hepatotoxicity may manifest as triglyceride accumulation, which leads to either small-droplet (microvesicular) or large-droplet (macrovesicular) fatty liver. There is a separate type of steatosis by which phospholipid accumulation leads to a pattern similar to the diseases with inherited phospholipid metabolism defects (e.g., Tay–Sachs disease ) Causes: (a) Microvesicular: Aspirin ( Reye's syndrome ), ketoprofen , tetracycline (especially if expired) (b) Macrovesicular: Acetaminophen , methotrexate (c) Phospholipidosis: Amiodarone , total parenteral nutrition (d) Antiviral : nucleoside analogues (e) Corticosteroid (f) Hormonal: Tamoxifen Granuloma [ edit ] Drug-induced hepatic granulomas are usually associated with granulomas in other tissues and patients typically have features of systemic vasculitis and hypersensitivity. ... This indicates severe hepatotoxicity and is likely to lead to mortality in 10% to 15% of patients, especially if the offending drug is not stopped ( Hy's Law ). [49] [50] This is because it requires significant damage to the liver to impair bilirubin excretion, hence minor impairment (in the absence of biliary obstruction or Gilbert syndrome ) would not lead to jaundice. Other poor predictors of outcome are old age, female sex, high AST . [51] [52] Drugs withdrawn [ edit ] The following therapeutic drugs were withdrawn from the market primarily because of hepatotoxicity: Troglitazone , bromfenac , trovafloxacin , ebrotidine , nimesulide , nefazodone , ximelagatran and pemoline . [47] [53] [54] See also [ edit ] Hepatoprotection Reye's syndrome References [ edit ] ^ Friedman, Scott E.; Grendell, James H.; McQuaid, Kenneth R. (2003).
Another focal form, FNEPPK2 (616400), is caused by mutation in the TRPV3 gene (607066); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; 614594), a severe mutilating form of PPK. ... Noting that the KRT9 gene is not expressed in the mammary gland, Torchard et al. (1994) stated that the most likely explanation for the association of EPPK with hereditary breast/ovarian cancer syndrome is that the 2 conditions resulted from distinct genetic events on chromosome 17q in linked genes.
Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells. Epidemiology NLPHL accounts for only 5-10% of HL cases and has an annual incidence of approximately 1/ 830,000. Clinical description Disease onset usually occurs before the age of 40 and there is a 3:1 male predominance for the disease. Unlike classical Hodgkin lymphoma (CHL; see this term) NLPHL has a greater tendency to be restricted to peripheral lymph nodes (neck, axilla or inguino-femoral). Mediastinal involvement is rare and nodal spread is discontiguous. More than 80% of cases present with stage 1 or 2 disease.
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days. In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin.
Wade ruling and was not a result of state based legislation. [14] In 2020 Tennessee banned abortions because of a prenatal diagnosis of Down syndrome or because of the gender or race of the fetus. [21] Judicial history [ edit ] The US Supreme Court 's decision in 1973's Roe v. ... The legislation passed 66-21. ^ "Court: Tennessee can enforce Down syndrome abortion ban" . AP NEWS . November 21, 2020. ^ a b Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998).
Malignant edema ( or malignant oedema [1] ) is an acute, generally rapidly fatal wound infection ( toxemia ) most common in grazing animals. It affects cattle , horses , sheep , goats , pigs , and deer . It is caused by one or more species of bacteria in the genus Clostridium . [2] [3] "A similar infection in humans is not uncommon." [4] References [ edit ] ^ 'Oedema' is the standard form defined in the Concise Oxford English Dictionary (2011), with the precision that the spelling in the United States is 'edema'. ^ The Merck Veterinary Manual, "Malignant Edema" ^ A World of Petcare, "Malignant Oedema" Archived 2011-07-06 at the Wayback Machine ^ The Merck Veterinary Manual, "Malignant Edema" This veterinary medicine –related article is a stub . You can help Wikipedia by expanding it . v t e
Caffeine may also cause adrenal glands to release adrenaline which causes the blood pressure to dramatically increase. White Coat Syndrome: occurs in situations when people are anxious with their visit to the doctor or General Practitioner (GP) which can elevate blood pressure readings. [6] Pheochromocytoma : Normally, in a healthy person, the non-cancerous tumour that is present in the adrenal gland is responsible for releasing hormones that can cause the blood pressure to change. ... Diagnosis [ edit ] Ambulatory blood pressure monitoring : A non-invasive portable device that can monitor and record blood pressure automatically during specific time of the day, especially is focused on people who have White Coat Syndrome as it can reduce the elevation of blood pressure during the visit in the examination room. [11] This can allow doctors to identify results and observe patterns. [12] Patients who normally undergo ambulatory blood pressure monitoring are suggested to keep record on the periods of awake and asleep times, medication intake and periods when exposed to exercise.
"Transcranial motor evoked potential recording in a case of Kernohan's notch syndrome: Case report". Neurosurgery . 54 (4): 999–1002. doi : 10.1227/01.NEU.0000115674.15497.09 . ... "Transcranial motor evoked potential recording in a case of Kernohan's notch syndrome: Case report". Neurosurgery . 54 (4): 1002–1003. doi : 10.1227/01.neu.0000115674.15497.09 .
All too often, however, the disease rapidly recurs and does so in a more drug-resistant form. [5] Furthermore, the disease may occur in association with the myelodysplastic syndrome or transform to acute myeloid leukemia . [4] Consequently, BPDCN has a very low 5 year survival rate. [5] Current translational research studies on treating BPDCN have therefore focused on non-chemotherapeutic regimens that target the molecular pathways which may promote the disease. [6] Contents 1 Presentation 2 Pathophysiology 3 Diagnosis 4 Treatment 4.1 Tagraxofusp-erzs 5 Prognosis 6 Research 6.1 UCART123 6.2 Venetoclax 7 References Presentation [ edit ] Blastic plasmacytoid dendritic cell neoplasm occurs in children, [5] including neonates , [7] but is more common in adults, particularly those between the ages 60–80. [5] BPDCN usually (i.e. 61% [5] to 90% [8] of cases) presents with skin lesions, i.e. nodules, tumors, red or purple papules , bruise-like patches, and/or ulcers that most often occur on the head, face, and upper torso. [2] The lesions are due to diffuse infiltrations of the skin by malignant pDC. ... The intravenous infusion of these cells in patients with BPDCN is in phase 1 clinical trials [15] but in September 2017, the Federal Drug Administration suspended these because one patient developed a Grade 5 (i.e. lethal) cytokine release syndrome (see UCART123#CAR-T cancer treatment ). [15] The suspension was lifted in November 2017 after the trial used reduced amounts of the cells and with additional conditions were applied. [16] A new phase 1 clinical trial is now recruiting 76 new patients to study the safety and efficacy of UCAR123 in treating BPDCN.
A rare hematologic neoplasm characterized by origin from precursors of plasmacytoid dendritic cells, with frequent cutaneous, bone marrow, and lymph node involvement, as well as leukemic dissemination. Most common clinical presentation is with asymptomatic solitary or multiple skin lesions (either isolated purplish nodules, isolated bruise-like papules, or disseminated purplish nodules/macules/papules), although some patients may present with leukemia. Skin biopsy shows a diffuse, monomorphous infiltrate of medium-sized blast cells resembling either lymphoblasts or myeloblasts, with massive involvement of the dermis. The clinical course is aggressive, and age has an adverse impact on prognosis.
On the other hand, the presence of certain maternal infections during pregnancy such as congenital rubella syndrome can also lead to spastic diplegia, since such infections can have similar end results to infant hypoxia. ... External links [ edit ] Classification D ICD - 10 : G80.1 MeSH : D009128 v t e Cerebral palsy Symptoms and signs Spasticity Upper motor neuron lesion Spastic cerebral palsy Scissor gait Spastic diplegia Spastic hemiplegia Spastic quadriplegia Ataxia and others Ataxic cerebral palsy Dyskinetic cerebral palsy Diagnosis General movements assessment Measurement scales Gross Motor Function Classification System - Expanded & Revised (gross motor function) Manual Ability Classification System (manual dexterity) Communication Function Classification System (communication) Modified Ashworth scale (spasticity) Management Management of cerebral palsy Selective percutaneous myofascial lengthening Rhizotomy Other People with cerebral palsy Cerebral palsy organizations Works about cerebral palsy and other paralytic syndromes
Relatively low doses caused slower development in children, and abnormal reflexes. [8] Different treatments for mercury poisoning have since been developed, and "quiet baby syndrome", characterised by a baby who never cries, is now a recognised symptom of methylmercury-induced brain damage. [10] Ongoing recommendations of the food regulation authorities have focused on consumption by pregnant women and infant children, [11] noting the particular susceptibility of fetuses and infants to methylmercury poisoning. ... Retrieved 14 June 2010 . v t e Consumer food safety Adulterants , food contaminants 3-MCPD Aldicarb Antibiotic use in livestock Cyanide Formaldehyde HGH controversies Lead poisoning Melamine Mercury in fish Sudan I Flavorings Monosodium glutamate (MSG) Salt Sugar High-fructose corn syrup Intestinal parasites and parasitic disease Amoebiasis Anisakiasis Cryptosporidiosis Cyclosporiasis Diphyllobothriasis Enterobiasis Fasciolopsiasis Fasciolosis Giardiasis Gnathostomiasis Paragonimiasis Toxoplasmosis Trichinosis Trichuriasis Microorganisms Botulism Campylobacter jejuni Clostridium perfringens Cronobacter Enterovirus Escherichia coli O104:H4 Escherichia coli O157:H7 Hepatitis A Hepatitis E Listeria Norovirus Rotavirus Salmonella Vibrio cholerae Pesticides Chlorpyrifos DDT Lindane Malathion Methamidophos Preservatives Benzoic acid Ethylenediaminetetraacetic acid (EDTA) Sodium benzoate Sugar substitutes Acesulfame potassium Aspartame Saccharin Sodium cyclamate Sorbitol Sucralose Toxins , poisons , environment pollution Aflatoxin Arsenic contamination of groundwater Benzene in soft drinks Bisphenol A Dieldrin Diethylstilbestrol Dioxin Mycotoxins Nonylphenol Shellfish poisoning Food contamination incidents Devon colic Swill milk scandal Esing Bakery incident 1858 Bradford sweets poisoning 1900 English beer poisoning Morinaga Milk arsenic poisoning incident Minamata disease 1971 Iraq poison grain disaster Toxic oil syndrome 1985 diethylene glycol wine scandal UK mad cow disease outbreak 1993 Jack in the Box E. coli outbreak 1996 Odwalla E. coli outbreak 2006 North American E. coli outbreaks ICA meat repackaging controversy 2008 Canada listeriosis outbreak 2008 Chinese milk scandal 2008 Irish pork crisis 2008 United States salmonellosis outbreak 2011 Germany E. coli outbreak 2011 United States listeriosis outbreak 2013 Bihar school meal poisoning 2013 horse meat scandal 2015 Mozambique beer poisoning 2017 Brazil weak meat scandal 2017–18 South African listeriosis outbreak 2018 Australian rockmelon listeriosis outbreak 2018 Australian strawberry contamination Food safety incidents in China Food safety incidents in Taiwan Food safety in Australia Foodborne illness outbreaks death toll United States Regulation , standards , watchdogs Acceptable daily intake E number Food labeling regulations Food libel laws International Food Safety Network ISO 22000 Nutrition facts label Organic certification The Non-GMO Project Quality Assurance International Food Standards Agency Institutions Institute for Food Safety and Health European Food Safety Authority International Food Safety Network Spanish Agency for Food Safety and Nutrition Food Information and Control Agency (Spain) Centre for Food Safety (Hong Kong) Ministry of Food and Drug Safety (South Korea) v t e Cargill People Cargill family Austen S.
The term 'orthorexia' only applies when an eating disorder develops around that theory." [20] Bratman elsewhere clarifies that with a few exceptions, most common theories of healthy eating are followed safely by the majority of their adherents; however, "for some people, going down the path of a restrictive diet in search of health may escalate into dietary perfectionism." [21] Karin Kratina , PhD, writing for the National Eating Disorders Association , summarizes this process as follows: "Eventually food choices become so restrictive, in both variety and calories, that health suffers – an ironic twist for a person so completely dedicated to healthy eating." [22] Although orthorexia is not recognized as a mental disorder by the American Psychiatric Association, and it is not listed in the DSM-5 , [23] as of January 2016, four case reports and more than 40 other articles on the subject have been published in a variety of peer-reviewed journals internationally. [7] According to a study published in 2011, two-thirds of a sample of 111 Dutch-speaking eating disorder specialists felt they had observed the syndrome in their clinical practice. [24] According to the Macmillan English Dictionary, the word is entering the English lexicon . [25] The concept of orthorexia as a newly developing eating disorder has attracted significant media attention in the 21st century. [26] [27] [28] [29] [30] See also [ edit ] Chemophobia Clean eating Comfort food Coping (psychology) Diet Emotional eating Food guide pyramid Notes [ edit ] ^ Medical manuals that do not recognise orthorexia nervosa include; ICD-10 , [31] DSM-IV , [32] and DSM-5 . [33] References [ edit ] ^ a b Hill, Amelia (16 August 2009). ... Professionals' Opinions About Night Eating Syndrome, Orthorexia, Muscle Dysmorphia, and Emetophobia".
By the end of the year, similar diseases are reported in injection drug users. 1982: The disease is renamed Acquired Immune Deficiency Syndrome (AIDS) and it is realized that the infection can be sexually transmitted. ... PMID 27398110 . v t e HIV/AIDS in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region