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  • Extensively Drug-Resistant Tuberculosis Wikipedia
    Tuberculosis that is resistant to the most effective drugs Extensively drug-resistant tuberculosis Description of extensively drug-resistant tuberculosis. ... The problem was that primary DST was not suitable for testing bacteria strains that were extensively drug resistant. This problem was starting to be fixed when drug susceptibility tests started including not just the four primary drugs, but secondary drugs. ... Fortunately, in most of the places with high rates of HIV, XDR-TB is not yet widespread. For this reason, the majority of people with HIV who develop TB will have drug-susceptible or ordinary TB, and can be treated with standard first-line anti-TB drugs. ... Jan. 2014. < http://health.mo.gov/lab/dst.php > ^ a b Rodrigues, C. et al. (2008)"Drug susceptibility testing of Mycobacterium tuberculosis against second-line drugs using the Bactec MGIT 960 System." ... Emergence of new forms of totally drug-resistant tuberculosis bacilli: super extensively drug-resistant tuberculosis or totally drug-resistant strains in Iran.
    SIT1, INHA, DST, ABCA4, HACD1, LRSAM1, RNF34, RHOF, RMC1, BRD4, CILK1, SORBS1, GNLY, CAP1, GDF15, TSC2, URI1, TSC1, TNF, RPS19, SERPINB6, LTB, LNPEP, IL10, GNA12, CTLA4, CTAA1, CPM, EMB
  • Photoaging Wikipedia
    Find sources: "Photoaging" – news · newspapers · books · scholar · JSTOR ( December 2014 ) ( Learn how and when to remove this template message ) This article may require cleanup to meet Wikipedia's quality standards . No cleanup reason has been specified. Please help improve this article if you can. ( June 2011 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Photoaging or photoageing [1] (also known as "dermatoheliosis" [2] ) is a term used for the characteristic changes to skin induced by chronic UVA and UVB exposure. [3] : 29 Tretinoin is the best studied retinoid in the treatment of photoaging [4] The deterioration of biological functions and ability to manage metabolic stress is one of the major consequences of the aging process. ... The form of retinol and retinal are metabolized in the skin to retinoic acid, which can then act on the RARs and RXRs. [11] These products are considered cosmeceuticals rather than drugs due to their lack of regulation, and they have not been widely studied. ... PMID 17166212 . ^ "Photoaging" . ^ http://911skin.com/uvbubarays.html ^ Spiekstra, SW; Breetveld; Rustemeyer; Scheper; Gibbs (September 2007). ... Canadian Dermatology Association . Retrieved 14 May 2018 . ^ https://www.isdin.com/en-US/blog/skincare/anti-aging/what-is-photoaging-and-why-do-we-have-to-care-about-it/ ^ "UpToDate" . www.uptodate.com . ... Retrieved 2018-04-14 . External links [ edit ] https://web.archive.org/web/20110910163035/http://www.biotopix.eu/pdf/W8.pdf http://www.dermatology.ca/photoaging/ https://www.isdin.com/en-US/blog/skincare/anti-aging/what-is-photoaging-and-why-do-we-have-to-care-about-it/ http://911skin.com/uvbubarays.html https://web.archive.org/web/20150209040004/http://www.skincarephysicians.com/agingskinnet/basicfacts.html v t e Radiation-related disorders / Photodermatoses Ultraviolet / ionizing Sunburn Phytophotodermatitis Solar urticaria Polymorphous light eruption Benign summer light eruption Juvenile spring eruption Acne aestivalis Hydroa vacciniforme Solar erythema Non-ionizing Actinic rays Actinic keratosis Atrophic actinic keratosis Hyperkeratotic actinic keratosis Lichenoid actinic keratosis Pigmented actinic keratosis Actinic cheilitis Actinic granuloma Actinic prurigo Chronic actinic dermatitis Infrared / heat Erythema ab igne ( Kangri ulcer Kairo cancer Kang cancer Peat fire cancer ) Cutis rhomboidalis nuchae Poikiloderma of Civatte Other Radiation dermatitis Acute Chronic radiodermatitis ) Favre–Racouchot syndrome Photoaging Photosensitivity with HIV infection Phototoxic tar dermatitis
    • Actinic Elastosis Wikipedia
      External links [ edit ] Classification D ICD - 10 : L57.8 ( ILDS L57.890) Picture of solar elastosis at DermIS.net v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma 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
  • Virus Rd114 Rna Complementarity Omim
    From in situ hybridization studies, Price et al. (1973) suggested that a D-group chromosome contains on its long arm DNA complementary to the RNA of the oncogenic virus RD114.
  • Hiv/aids In Russia Wikipedia
    In 1988, the incidence of intravenous drug use was considered to be extremely low, but in 1990 the veil of ignorance was partially lifted, and the official number of registered drug users measured 300,000. ... Experts predict that heterosexual sex may soon overtake injecting drug use as the main means of HIV transmission. ... "Russian injected drug use soars in face of political inertia" . ... Int J Drug Policy. 2014;25(1):53-60. ^ "AIDSinfo" . ... A peer educator network HIV prevention intervention among injection drug users: results of a randomized control trial in St.
  • Abortion In Arkansas Wikipedia
    The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons. [1] Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child", [2] [3] and see the medical terms " embryo ", " zygote ", and " fetus " as dehumanizing . [4] [5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing : they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. ... At the same time, a 2011 study by Center for Reproductive Rights and Ibis Reproductive Health also found that states with more abortion restrictions have higher rates of maternal death, higher rates of uninsured pregnant women, higher rates of infant and child deaths, higher rates of teen drug and alcohol abuse, and lower rates of cancer screening. [8] The study singled out Oklahoma, Mississippi and Kansas as being the most restrictive states that year, followed by Arkansas and Indiana for second in terms of abortion restrictions, and Florida, Arizona and Alabama in third for most restrictive state abortion requirements. [8] According to a 2017 report from the Center for Reproductive Rights and Ibis Reproductive Health, states that tried to pass additional constraints on a women's ability to access legal abortions had fewer policies supporting women's health, maternal health and children's health. ... (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother. ... Retrieved 2019-05-22 . ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price" . Guttmacher Institute . 2013-06-27 . ... Business Insider (in Spanish) . Retrieved 2019-05-24 . ^ https://www.plannedparenthood.org/health-center/AR ^ Cates, Willard; Rochat, Roger (March 1976).
  • Psychotic Depression Wikipedia
    The HPA axis appears to be dysregulated in psychotic depression, with dexamethasone suppression tests demonstrating higher levels of cortisol following dexamethasone administration (i.e. lower cortisol suppression). [2] Those with psychotic depression also have higher ventricular-brain ratios than those with non-psychotic depression. [2] Diagnosis [ edit ] Differential diagnosis [ edit ] See also: Depression (differential diagnoses) Psychotic symptoms are often missed in psychotic depression, either because patients do not think their symptoms are abnormal or they attempt to conceal their symptoms from others. [2] On the other hand, psychotic depression may be confused with schizoaffective disorder . [2] Due to overlapping symptoms, differential diagnosis includes also dissociative disorders . [8] Treatment [ edit ] Several treatment guidelines recommend either the combination of a second-generation antidepressant and atypical antipsychotic or tricyclic antidepressant monotherapy or electroconvulsive therapy (ECT) as the first-line treatment for unipolar psychotic depression. [9] [10] [11] [12] There is some evidence indicating that combination therapy with an antidepressant plus an antipsychotic is more effective in treating psychotic depression than either antidepressant treatment alone or placebo. [13] Pharmaceutical treatments can include tricyclic antidepressants , atypical antipsychotics , or a combination of an antidepressant from the newer, more well tolerated SSRI or SNRI categories and an atypical antipsychotic. [10] Olanzapine may be an effective monotherapy in psychotic depression, [14] although there is evidence that it is ineffective for depressive symptoms as a monotherapy; [10] [15] and olanzapine/fluoxetine is more effective. [10] [15] Quetiapine monotherapy may be particularly helpful in psychotic depression since it has both antidepressant and antipsychotic effects and a reasonable tolerability profile compared to other atypical antipsychotics. [16] [17] [18] The current drug-based treatments of psychotic depression are reasonably effective but can cause side effects, such as nausea, headaches, dizziness, and weight gain. [19] Tricyclic antidepressants may be particularly dangerous, because overdosing has the potential to cause fatal cardiac arrhythmias. [10] In the context of psychotic depression, the following are the most well-studied antidepressant/antipsychotic combinations First-generation Amitriptyline/perphenazine [20] Amitriptyline / haloperidol [21] Second-generation Venlafaxine / quetiapine [22] Olanzapine/fluoxetine [15] Olanzapine / sertraline [23] In modern practice of ECT a therapeutic clonic seizure is induced by electric current via electrodes placed on an anaesthetised, unconscious patient. ... PMC 3549283 . PMID 23017200 . ^ Mayo Clinic http://www.mayoclinic.com/health/antidepressants/MH00062 ^ Spiker, DG; Weiss, JC; Dealy, RS; Griffin, SJ; Hanin, I; Neil, JF; Perel, JM; Rossi, AJ; Soloff, PH (1985). ... Archives of General Psychiatry . 57 (8): 755–60. doi : 10.1001/archpsyc.57.8.755 . PMID 10920463 . ^ Cubells, JF; Price, LH; Meyers, BS; Anderson, GM; Zabetian, CP; Alexopoulos, GS; Nelson, JC; Sanacora, G ; Kirwin, P; Carpenter, L; Malison, RT; Gelernter, J (2002).
    DTNBP1, NR3C1, DBH, HTR2A, MAP6, SLC6A3, SLC18A2, TPH1, RNF123, MIR106A, MIR126
  • Abortion In Wisconsin Wikipedia
    The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons. [1] Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child", [2] [3] and see the medical terms " embryo ", " zygote ", and " fetus " as dehumanizing . [4] [5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing : they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. ... (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother. ... Wisconsin Public Radio . 2019-05-01 . Retrieved 2019-05-28 . ^ https://docs.legis.wisconsin.gov/misc/lrb/legislative_reports/lrb_legislative_report_15_2.pdf ^ a b c Buell, Samuel (1991-01-01). ... Retrieved 2020-08-18 . ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price" . Guttmacher Institute . 2013-06-27 . ... Gee (2017), Brief of Amici Curiae, In the United States Supreme Court, https://www.supremecourt.gov/DocketPDF/18/18-1323/124112/20191202155124757_Brief%20with%20Appendix.pdf ^ "Increasing Access to Abortion" . www.acog.org .
  • Fetal Valproate Syndrome Gard
    Early intervention programs may also be helpful. The U.S. Food and Drug Administration (FDA) advises that valproate and related products should not be taken by women for the prevention of migraine headaches during pregancy. ... The FDA suggests a pregnant woman taking valproate or other anti-seizure medication should talk to her doctor or other trusted medical professional about registering with the North American Antiepileptic Drug Pregnancy Registry. The purpose of this registry is to collect information about the safety of anti-seizure medications during pregnancy. ... You can read more about the registry on the North American AED (Antiepileptic Drug) Pregnancy Registry website . It is suggested that physicians refer pregnant patients who are using valproate to register for an antiepileptic drug registration program called North American Antiepileptic Drug (NAAED) Pregnancy Registry: http://www.aedpregnancyregistry.org/
    • Valproate Embryopathy, Susceptibility To Omim
      All antiepileptic drugs are potential teratogens. Anticonvulsant treatment during pregnancy presents the challenge of balancing between optimal treatment for seizure control and possible harmful fetal effects.
    • Fetal Valproate Spectrum Disorder Orphanet
      Etiology FVS is caused by the exposure during pregnancy to VPA (valproate), a mood stabilizer and broad-spectrum antiepileptic drug (AED. Primarily metabolized in the liver, VPA readily crosses the placenta, where concentrations are higher than in the mother.
  • Macroovalocyte Wikipedia
    If associated with hypersegmented granulocytes in the absence of other causes (e.g. drugs), the findings are essentially diagnostic of Vitamin B-12 or folate deficiency. [2] References [ edit ] ^ http://medical-dictionary.thefreedictionary.com/macroovalocyte ^ "Archived copy" .
  • Steroid Rosacea Wikipedia
    The use of nonsteroidal anti-inflammatory drugs (NSAIDs) does not necessary prevent steroid induced rosacea. ... Additionally, tacrolimus combined with oral antibiotics has proven to speed up the recovery process. [2] See also [ edit ] Rosacea List of cutaneous conditions References [ edit ] ^ http://dermnetnz.org/acne/steroid-rosacea.html ^ http://dermnetnz.org/acne/steroid-rosacea.html External links [ edit ] Steroid Rosacea
  • Epileptic Spasms Wikipedia
    The International League Against Epilepsy (ILAE) recommended in 2011 to abandon these terms [5] [6] for reasons of clarity and instead try to place individual cases into one of the following 3 groups: genetic, structural/metabolic, and unknown. ... Although not all children can become entirely free from attacks with medication, children with Down syndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than those without additional hereditary material on the 21st chromosome . The reason why it is easier to treat children with Down syndrome is not known. [ citation needed ] If, however, a child with Down syndrome has seizures that are difficult to control, the child should be assessed for autistic spectrum disorder . [7] Cryptogenic [ edit ] When a direct cause cannot be determined but the child has other neurological disorder, the case is referred to as cryptogenic West syndrome. ... These include the Aristaless related homeobox ( ARX ) and cyclin dependent kinase like 5 ( CDKL5 ) genes. [8] The ARX gene in particular seems to be responsible for at least some of the X linked cases. [9] Variants in the KCNT1 gene (also known as SLACK potassium ion channel gene) can result in West syndrome https://www.ncbi.nlm.nih.gov/books/NBK525917/ Idiopathic [ edit ] Occasionally the syndrome is referred to as idiopathic West syndrome, when a cause cannot be determined. ... Children with this form of the syndrome are less likely to go on to develop other forms of epilepsy; around two in every five children develop at the same rate as healthy children. [ citation needed ] In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not positive, especially when they prove resistant to therapy. [ citation needed ] Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. ... Ole Daniel Enersen. ^ "NINDS Infantile Spasms Information Page" . Retrieved January 10, 2012 . ^ http://www.ilae.org/Visitors/Centre/ctf/documents/NewConcepts-Classification_2011_000.pdf ^ http://www.ilae.org/Visitors/Centre/ctf/CTFoverview.cfm ^ Goldberg-Stern et al., 2001 & Eisermann et al. 2003 in: American Journal of Medical Genetics part C, 2006, S. 163: Neurobehavioral disorders in children, adolescents and young adults with down syndrome ^ Bahi-Buisson N, Bienvenu T (2012) CDKL5-related disorders: from clinical description to molecular genetics.
    CDKL5, ARX, STXBP1, TSC2, SPTAN1, SCN2A, GRIN2B, ST3GAL3, CNPY3, PLCB1, PHACTR1, SIK1, PIGA, POMC, GUF1, NTRK2, MAGI2, TSC1, CRH, WDR45, HSD17B4, UPB1, AIMP2, TBCD, ABAT, CFL1, ND1, ALG13, SLC35A2, CASK, NEUROD2, TRNW, TRNV, TRNL1, TRNK, PNKP, ND6, ND5, PIGQ, ND4, ND3, ND2, ZNHIT3, ATP6, HIBCH, PIGP, KIF1A, RFT1, CLCN4, KCNA1, TRIM8, SLC19A3, NGLY1, IFNG, TUBA8, SLC25A22, GNAO1, KCNQ2, CRHR1, GABRB3, HTC2, MECP2, FOXG1, NR3C1, MC2R, KCNJ6, NR2F1, PAFAH1B1, SCN1A, PIGW, HNRNPU, TBC1D24, IARS2, BRWD3, HDAC4, KCNT2, KPNA7, DEPDC5, WDR62, AKT3, CPP, PRRT2, UBA5, PDCD6IP, ARFGEF2, TIMM50, FARS2, ATG10, TLK2, SORCS3, TBL1XR1, KCNT1, ARC, PARS2, RARS2, MBD5, PNPO, AARS1, PTCH1, KCNAB2, DLX5, GNB1, GABRB2, GABRA1, MTOR, FLNA, FGF12, FBN1, DPYS, DNMT3A, DNM1, DLG3, YWHAG, DCX, CTNNB1, CSNK1E, CHD2, CACNA2D1, C5AR1, C5, BTD, APC, ACTB, GRIN1, GRIN2A, IGF1, IL2RG, TWIST1, TCOF1, SPTBN2, SOS1, SLC6A4, SLC1A4, SKI, SCN3A, ATXN2, RASGRF1, PPP1CB, PMM2, ABCB1, PDHA1, NGF, NDP, MEF2C, MC4R, LAMA2, KCNJ11, ITGA2B, LINC02210-CRHR1
    • Epileptic Encephalopathy, Early Infantile, 15 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-15 (EIEE15) is caused by homozygous mutation in the ST3GAL3 gene (606494) on chromosome 1p34. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Edvardson et al. (2013) reported a consanguineous Palestinian family in which 4 members had a severe early infantile epileptic encephalopathy consistent with West syndrome. The patients developed infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which were accompanied by hypsarrhythmia on EEG. Other features included poor eye contact, hypotonia, primitive reflexes, and irritability.
    • Epileptic Encephalopathy, Early Infantile, 27 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-27 (EIEE27) is caused by heterozygous mutation in the GRIN2B gene (138252) on chromosome 12p12. Heterozygous mutation in the GRIN2B gene can also cause autosomal dominant mental retardation-6 (MRD6; 613970), a similar disorder without early-onset seizures. Description Early infantile epileptic encephalopathy-27 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging.
    • Epileptic Encephalopathy, Early Infantile, 12 Omim
      A number sign (#) is used with this entry because early infantile epileptic encephalopathy-12 (EIEE12) is caused by homozygous mutation in the PLCB1 gene (607120). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Kurian et al. (2010) reported a boy, born of consanguineous parents from Bangladesh, who presented with seizures at age 10 weeks. Seizures were characterized by eye rolling, lip smacking, drooling and perioral cyanosis followed by tonic stiffening and flexion of arms and legs. At age 8 months, he developed refractory seizures and regression in all areas of development.
    • Epileptic Encephalopathy, Early Infantile, 70 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-70 (EIEE70) is caused by heterozygous mutation in the PHACTR1 gene (608723) on chromosome 6p24. For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features De Ligt et al. (2012) reported a 28-year-old woman with EIEE70. She had her first seizures at 3 weeks of age and thereafter showed severely delayed psychomotor development. She learned to sit and could speak a few words, but later lost these skills.
    • Epileptic Encephalopathy, Early Infantile, 5 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-5 (EIEE5) is caused by heterozygous mutation in the SPTAN1 gene (182810) on chromosome 9q34. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Tohyama et al. (2008) reported 2 unrelated Japanese infants, a girl and a boy, with early infantile epileptic encephalopathy. Both had onset of intractable seizures associated with hypsarrhythmia at age 3 months. Both had profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.
    • Epileptic Encephalopathy, Early Infantile, 1 Omim
      A number sign (#) is used with this entry because early infantile epileptic encephalopathy-1 (EIEE1), also known as X-linked infantile spasm syndrome-1 (ISSX1), is caused by mutation in the aristaless-related homeobox gene (ARX; 300382) on chromosome Xp21. Description Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.
    • Epileptic Encephalopathy, Early Infantile, 60 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-60 (EIEE60) is caused by homozygous or compound heterozygous mutation in the CNPY3 gene (610774) on chromosome 6p. For a discussion of genetic heterogeneity of EIEE, see 308350. Clinical Features Mutoh et al. (2018) reported 3 patients from 2 unrelated Japanese families with EIEE60. The patients presented in the first months of life with myoclonic epilepsy and other seizure types associated with hypsarrhythmia on EEG. Two sibs later showed diffuse sharp- and slow-wave complexes on EEG, and the third patient had suppression-burst patterns. The seizures were initially partially controllable in the 2 sibs, but later became intractable.
    • Epileptic Encephalopathy, Early Infantile, 40 Omim
      A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-40 (EIEE40) is caused by homozygous mutation in the GUF1 gene (617064) on chromosome 4p12. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Alfaiz et al. (2016) reported 3 sibs, born of consanguineous Algerian parents, with onset of refractory seizures associated with hypsarrhythmia between 4 and 6 months of age. Onset of seizures was associated with psychomotor arrest and poor neurologic outcome, including poor or absent eye contact, hypotonia, spasticity, spastic tetraparesis and choreoathetosis (in 1 patient), dystonic fits, no babbling, and an inability to handle small objects. Brain imaging of 1 patient was normal at first, but later showed diffuse cortical atrophy.
    • West Syndrome Gard
      The goals of treatment are to reduce or eliminate seizures, and include several medications , such as corticoids, avigabatrin, and antiepileptic drugs. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.
    • West Syndrome Orphanet
      A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. Epidemiology The incidence is estimated at between 1 and 1.6/100,000 live births. Boys are more often affected than girls. Clinical description Onset occurs between 3 and 7 months of age in 50-70% of cases. Onset at birth or in older infants and children (up to the age of 5) is much less common.
  • Doping At The Tour De France Wikipedia
    Among the treatments they supplied was nitroglycerine , a drug used to stimulate the heart after cardiac attacks and which was credited with improving riders' breathing. [5] Riders suffered hallucinations from the exhaustion and perhaps the drugs. ... The autopsy showed he had taken amphetamine and another drug, Ronicol, which dilates the blood vessels. ... Far from abandoning drugs, riders and their helpers concentrated on finding alternatives that could not be detected. ... Their advisers learned to calculate how long it would take a drug to move from blood into urine, and therefore how much time a rider could risk waiting before going to a drugs test. ... 1990s: The era of EPO [ edit ] When other drugs became detectable, riders began achieving the effects of transfusion more effectively by using erythropoietin , known as EPO, a drug to increase red-cell production in anaemia sufferers.
  • Abortion In North Macedonia Wikipedia
    Although some changes from the original harsh draft of the law were made, due to opposition from the public and NGOs, several restrictions remained – restrictions which complicate the access to abortion. [6] [7] The new law enacted includes: mandatory filing of a written request for the termination of unwanted pregnancy by the woman to the appropriate health institution, mandatory counseling about the potential advantages of continuing the pregnancy, as well as about the health risks for the woman from undergoing an abortion, and a mandatory waiting period of three days after counseling before medical intervention is conducted to terminate the pregnancy. [8] The original form of the law also stipulated that the woman's partner had to be informed about the abortion – a provision which drew severe opposition and was consequently withdrawn. [9] The law, as well as the anti-abortion campaigns, have been criticized as stigmatizing women and being contrary to women's rights . [10] The 2019 Law on Termination of Pregnancy [ edit ] A new law was enacted in 2019, overturning the obstacles which made access to abortion difficult under the former law. [11] References [ edit ] ^ a b https://www.ippfen.org/blogs/north-macedonias-abortion-care-law-signals-new-dawn-reproductive-freedom-0 ^ a b "TFYR of Macedonia" . ... United Nations. 2013 . Retrieved 3 March 2014 . ^ https://whogoverns.eu/1830-2/ ^ "Macedonia: State anti-abortion ad faces criticism" . Associated Press. 26 November 2013 . Retrieved 25 March 2014 . ^ http://www.ippf.org/sites/default/files/strategic_framework_macedonia.pdf ^ https://hera.org.mk/wp-content/uploads/2016/09/Ana-M-Kajevska-Abortus-Ukinuvanje-na-demokratijata_ENG.pdf ^ http://tbinternet.ohchr.org/Treaties/CCPR/Shared%20Documents/MKD/INT_CCPR_ICO_MKD_17688_E.docx . ^ http://www.criticatac.ro/lefteast/womens-rights-in-macedonia/ ^ http://www.ippfen.org/news/new-abortion-law-macedonia-hurts-women-and-girls ^ http://www.ippfen.org/blogs/north-macedonias-abortion-care-law-signals-new-dawn-reproductive-freedom-0 v t e Abortion in Europe Sovereign states Albania Andorra Armenia Austria Azerbaijan Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Cyprus Czech Republic Denmark Estonia Finland France Georgia Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Turkey Ukraine United Kingdom England Northern Ireland Scotland Wales Vatican City States with limited recognition Abkhazia Artsakh Kosovo Northern Cyprus South Ossetia Transnistria v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category This abortion -related article is a stub .
  • Catalepsy Wikipedia
    It is also a characteristic symptom of cocaine withdrawal, as well as one of the features of catatonia . [ citation needed ] It can be caused by schizophrenia treatment with anti-psychotics , [3] such as haloperidol , [4] and by the anesthetic ketamine . [5] Protein kinase A has been suggested as a mediator of cataleptic behavior. [6] Unsuggested waxy catalepsy, sometimes accompanied by spontaneous anesthesia, is seen as an indicator of hypnotic trance. [7] Suggested or induced rigid catalepsy, of extended limbs or even the entire body, sometimes tested with heavy weights, has been a staple of stage hypnosis shows and even academic demonstrations of hypnotism since the late 18th century, as proof of extraordinary physical abilities possible in trance states. [ citation needed ] Such demonstrations have also been performed by Asian martial artists to prove the presence of "ki" or "chi" power, a kind of psychological or spiritual resource. [ citation needed ] Historical cases [ edit ] Armand D'Angour suggests that reports (such as that recounted in Plato's Symposium) of Socrates , in about 429 BC, standing perfectly still for hours on end during the Athenian campaign against Potidaea while seemingly deep in thought, are 'too extreme to be considered wholly a matter of rational choice,' and that 'it is reasonable to suppose that it was the symptom of an underlying physiological or psychological condition', such as catalepsy. [8] St. ... Dick 's novel Now Wait for Last Year , Kathy Sweetscent becomes immobilized by withdrawal from JJ-180, an alien (and highly addictive) drug. "My God, Kathy thought as she stood gazing down at the record by her feet. ... In Sheridan Le Fanu 's novella The Room in the Dragon Volant a naïve young man falls foul of a criminal gang who employ a curious, bulbocapnine -like drug which induces catalepsy - as a result of which he narrowly escapes premature burial . ... London: Faber & Faber. ^ Old Time Radio Researcher's Group https://otrr.org . Youtube: Old Time Radio, Suspense, Dead Earnest. https://www.youtube.com/watch?v=Ncb1N6InWLw or https://www.youtube.com/watch?v=YFUwDHzh2Fs External links [ edit ] Classification D ICD - 10 : F20.2 , F44.2 ICD - 9-CM : 295.2 , 300.11 MeSH : D002375 v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
    TH, PRL, DRD2, ADORA1, FYN, PPP1R1B, TRH, CALCA, CCK, CNR1, POMC, NTS, AGT, GCG, DRD1, HTR1A, COMT, WAS, GFAP, CYP2D6, TST, TAAR1, TPH2, STS, DISC1, PDE10A, FST, COX5A, BFSP2, LOH19CR1, FABP3, BDNF, SOD1, RPS19, COX8A, CPOX, CSF3, NF2, KTN1, CYP2D7, GRM4, GPR37, SLC17A8
  • Multidrug-Resistant Tuberculosis Wikipedia
    Drug modifying & inactivating enzymes : The TB genome codes for enzymes ( proteins ) that inactivate drug molecules. These enzymes are usually phosphorylate, acetylate, or adenylate drug compounds. Drug efflux systems: The TB cell contains molecular systems that actively pump drug molecules out of the cell. ... It is possible to use only one drug within each drug class. If it is difficult finding five drugs to treat then the clinician can request that high-level INH-resistance be looked for. ... Some supplements may be useful as adjuncts in the treatment of tuberculosis, but, for the purposes of counting drugs for MDR-TB, they count as zero (if four drugs are already in the regimen, it may be beneficial to add arginine or vitamin D or both, but another drug will be needed to make five). ... "J&J wins accelerated OK for first new TB drug in 40 years" . fiercebiotech.com .
    MT1JP, RNF34, RHOF, NCAPG2, DST, INHA, VDR, MAS1, TSC2, TSC1, ABCA4, IFNG, BCAR1, TBC1D1, URI1, HLA-DRB1, GNA12, PAND1, EMB, HACD1, LRSAM1, MIR155, GDE1, CHAMP1, GDF15, COPD, CACNA1G-AS1, CAP1, GNLY, SORBS1, FASTK, MOV10L1, BRD4, SMUG1, RBM45, IL23A, PRDX5, SIT1, RMC1, TRD, TOP2A, IL4, CASP3, CR2, CRP, CSE1L, CTAA1, CTNND1, DPP4, HGF, HLA-A, HTR1B, IL1B, IL6, STAT4, IL12RB1, IL17A, RPSA, LNPEP, PDR, SERPINB6, PSMD7, RENBP, RPS12, SELP, SLC11A1, TMX2-CTNND1
  • Constriction Ring Syndrome Wikipedia
    Prosthetics may help some ABS sufferers to live more functional lives. The price and complexity of these prosthetics vary dramatically, but advances in 3-D printing have helped to increase the availability of artificial fingers while reducing their cost of production. [31] Prognosis [ edit ] Amniotic Band Syndrome, 26-year-old Male The prognosis depends on the location and severity of the constricting bands. ... Epidemiology [ edit ] The reported incidence of constriction ring syndrome varies from 1/1200 and 1/15000 live births. [19] The prevalence is equally in male and female. [12] Fetomaternal factors like prematurity , maternal illness, low birth weight and maternal drug exposure are predisposing factors for the constriction ring syndrome. [12] No positive relationship between CRS and genetic inheritance has been reported. [8] Society [ edit ] Among the more notable people living with ABS are: Sophie Wells , British member Paralympics dressage team [32] Gina Casillas , US volleyball player [33] Ian T. Jamison , US artist [34] Anna Johannes , US Paralympic swimmer [35] Jean-Jacques Machado , 7th degree red-and-black belt in Brazilian Jiu-Jitsu [36] Monica Price , a case study of a young woman born with amniotic band syndrome [37] Kingsley McGowan , U.S. ... News Online . 2013-06-18. ^ Sophie Wells website http://www.sophiewells.com/ ^ "Superhands" . ... CS1 maint: archived copy as title ( link ) ^ 'Despite setbacks, swimmer takes head-first approach to reaching Paralympic gold' [1] ^ "Jean Jacques Machado - BJJ Heroes" . BJJ Heroes . ^ Monica Price website http://specialneedsfamilyfun.com/family/monica.htm ^ "Men's Eagles - USA Rugby National Teams" . ^ Cindy Arboleda.
    • Constricting Bands, Congenital Omim
      Temtamy and McKusick (1978) could find no evidence of a clear or simple genetic basis. After the work of Streeter (1930), the causative role of amniotic bands was discounted and the malformations, both the bands and the associated absence deformities, were thought to result from tissue necrosis, probably on a vascular basis. However, the work of Torpin (1968) made a modified form of the amniotic band theory plausible. A considerable body of observations indicated that rupture of the amnion and constriction of members which are displaced through holes in the amnion are involved. Amputated parts have been recovered in some instances. Gellis (1977) described a family in which both the father and 1 son had a ring constriction of the third left finger and a second family in which the fourth right finger was affected in father and son.
    • Constriction Rings Syndrome Orphanet
      Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
    • Amniotic Band Syndrome Gard
      Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion . The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude ( abdominal wall defects ), protrusion of a portion of the brain and its surrounding membranes through a skull defect ( encephalocele ), and cleft lip and/or palate . In most instances, the cause of amniotic bands remains unknown. Researchers have suggested two main theories to explain the development: the extrinsic theory and the intrinsic theory.
  • Hiv/aids In South Africa Wikipedia
    She said: Most people infected with HIV live in Africa, where therapies involving combinations of expensive [anti-retroviral] drugs are out of the question. [31] 1997 [ edit ] In February 1997, South African government's Health Department defended its support for the controversial AIDS drug Virodene by stating that "the 'cocktails' that are available [for the treatment of HIV/AIDS] are way beyond the means of most patients [even from developed countries]". [32] Parliament had previously launched an investigation into the procedural soundness of the clinical trials for the drug. [33] 1999 [ edit ] In 1999, the South African HIV prevention campaign LoveLife was founded. 2000 [ edit ] In 2000, the Department of Health outlined a five-year plan to combat AIDS, HIV and STIs. ... Once you say immune deficiency is acquired from that virus, your response will be anti-retroviral drugs. But if you accept that there can be a variety of reasons ... then you can have a more comprehensive treatment response. [43] [44] On 20 September 2000, then President Thabo Mbeki responded to a question in Parliament about his views. ... The report suggested alternative treatments for HIV/AIDS, but the South African government responded that unless alternative scientific proof is obtained, it will continue to base its policy on the idea that the cause of AIDS is HIV. [46] 2003 [ edit ] Despite international drug companies offering free or cheap anti-retroviral drugs, the Health Ministry remained hesitant about providing treatment for people living with HIV. ... Retrieved 15 May 2011 . ^ (PDF) . 19 January 2007 https://web.archive.org/web/20070119180300/http://www.ukzn.ac.za/heard/research/ResearchReports/2005/Environment%20Report/APPENDIXES.pdf . ... Retrieved 15 May 2011 . ^ (PDF) . 26 July 2011 https://web.archive.org/web/20110726195226/http://www.doh.gov.za/docs/reports/2007/antenatal/antenatal_report.pdf .
  • Hyperglycerolemia Wikipedia
    Department of Health & Human Services (n.d.), Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/gard/2807/disease/resources/1 ^ Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB (September 2001). ... Journal of Clinical Investigation, 61(1), 163. ^ Genetics Home Reference (n.d.), GK. Retrieved from http://ghr.nlm.nih.gov/gene/GK ^ Glycerol Kinase (n.d.). Retrieved from http://omim.org/entry/300474 ^ Huq, A. ... Clínica e Investigación en Arteriosclerosis, 25(3), 123-126. ^ Orphanet (n.d.), The Portal for Rare Diseases and Orphan Drugs. Retrieved from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284411 ^ Medicinenet.com (n.d.), Retrieved from http://www.medicinenet.com/fibrates/article.htm , ^ Fabiani, R.
    • Glycerol Kinase Deficiency Omim
      A number sign (#) is used with this entry because glycerol kinase deficiency (GKD) is caused by mutation in the GK gene (300474) on chromosome Xp21. Description Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). Clinical Features In a 70-year-old mildly diabetic man, Rose and Haines (1978) found an elevated level of serum-free glycerol (about 75 mg per dl) and excretion of free glycerol in the urine (about 13 gm per 25 hr).
    • Glycerol Kinase Deficiency Wikipedia
      Glycerol kinase deficiency Other names GKD Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita . Combinations of these three genetic defects including GKD are addressed medically as Complex GKD. [1] Contents 1 Signs and symptoms 2 Causes 3 Effect on glycolysis 4 Diagnosis 4.1 Classification 5 Treatment 6 References Signs and symptoms [ edit ] Glycerol Kinase Deficiency causes the condition known as hyperglycerolemia, [2] an accumulation of glycerol in the blood and urine .
  • Drug Resistance Wikipedia
    Pathogen resistance to medications This article is about pathogen resistance to the effects of drugs. For human resistance to the effects of drugs, see Drug tolerance . ... Individual organisms vary in their sensitivity to the drug used and some with greater fitness may be capable of surviving drug treatment. Drug-resistant traits are accordingly inherited by subsequent offspring, resulting in a population that is more drug-resistant. ... Instead, like mammalian cells, they turn to utilizing preformed folic acid. Reduced drug accumulation: by decreasing drug permeability and/or increasing active efflux (pumping out) of the drugs across the cell surface. ... New membrane transport system prevent drug from entering cell. New membrane transport system pumps drug out of cell.
  • Drunkorexia Wikipedia
    Comprehensive Psychiatry . 52 (6): e12. doi : 10.1016/j.comppsych.2011.04.038 . ^ a b {{cite web|title='Drunkorexia:' A Recipe for Disaster|publisher=ScienceDaily|date=October 17, 2011}, https://www.sciencedaily.com/releases/2011/10/111017171506.htm ^ a b Eating Disorders (2014). Eating disorders, drug, and alcohol addiction. Eating Disorders . Retrieved from http://www.eatingdisorders.org.au/eating-disorders/eating-disorders-a-other-health-problems/eating-disorders-drug-a-alcohol-addiction Archived 2015-04-17 at the Wayback Machine ^ a b c Chambers, R. ... S2CID 34405533 . ^ Recovery Connections (2014). Drunkorexia. Retrieved from http://www.recoveryconnection.org/drunkorexia/ ^ a b Burke, S.C.; Cremeens, J.; Vail-Smith, K.; Woolsey, C. (2010). "Drunkorexia: calorie restriction prior to alcohol consumption among college freshman" . Journal of Alcohol & Drug Education . 54 (2). Archived from the original on 23 April 2012 .
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