- Spinocerebellar Ataxia Type 10 Orphanet
- Benign Essential Blepharospasm Gard
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Cutaneous T-Cell Lymphoma
Gard
The most common types are mycosis fungoides and Sézary syndrome . In some cases, cancerous T-cells may spread to the lymph nodes and eventually to other body tissues and organs, potentially resulting in life-threatening complications.CTLA4, CD28, TP53, FAS, CDKN2A, STAT5B, PLCG1, MCL1, NFKB2, IRF4, MIR22, ZEB1, BAX, TNFAIP3, CTCF, PRKCQ, RHOA, ATM, ARID1A, FGFR3, CARD11, DNMT3A, BRAF, TRBV20OR9-2, HDAC9, IL15, TNFRSF1B, TNFRSF8, BCL2, STAT3, CCR4, IL10, IL2, JAK3, IL4, MIR155, IFNG, IL7, KIR3DL2, STAT5A, TOX, IL17A, NOTCH1, IL5, HDAC1, CCR6, FOXP3, SOAT1, CDKN2B, CXCR4, CCR10, DNER, NAV3, ITGAM, CTAGE1, IFNA1, ISG20, TSPYL2, IFNA13, IL16, MDM2, IL2RA, JUNB, ITGB2, JAK1, MIR150, CD164, CTNNB1, TNF, XPR1, IL31, CCL20, MIR203A, MIR205, RARA, TRBV16, STAT6, SYCP1, TRB, CTDSP1, MUC1, TRG, TRGC1, TGFB1, SCPEP1, THBS1, SOCS3, CFLAR, VEGFA, AHI1, MYC, STAT4, PTPN6, PIK3CG, PIK3CD, TRBC1, MAPK3, PIK3CB, PIK3CA, PAK1, SAMHD1, BRD4, HDAC6, OPRM1, ERVW-1, IL22, NRAS, AKT1, SATB1, NFKB1, TRBV7-9, RAD23B, TP63, THEMIS, CD40LG, IL1A, FOS, IL1B, CBL, CCR3, GATA3, PPP1R2C, IL6, CXCL8, TARP, IL17F, DPP4, FKBP4, CXCL10, CD47, EZH2, ATN1, IL13, H3P10, ANG, BIN1, RUNX3, MIR122, DLEU1, MIRLET7I, SUPT7L, NFKBIZ, CCL26, CIB1, MRPL28, POSTN, CD226, MALAT1, CCL27, SUB1, RAB40B, CKAP4, MIR126, SART3, MIR200B, ERVK-20, TNFSF10, TNFSF9, H3P42, H3P9, HDAC3, ARHGEF7, LINC02605, USP2, ERVK-32, ERVK-18, MIR4433A, MIR200C, MIR711, DEFB4B, KIR2DS2, IL32, STK17B, MIR337, MIR223, SIRT2, MIR214, MIR21, PSIP1, SIRT1, TPX2, KRT20, SPZ1, ASCC2, ARHGAP24, LBH, TXNDC5, ASCC1, HM13, HDAC7, GDE1, BCL11A, SOX18, CHFR, CXCL17, HDAC8, MYDGF, TIGAR, NLN, PREX1, MUL1, IL22RA1, IL21, SOCS1, BCL11B, IL25, IL20, HAVCR2, TSLP, TBX21, PDCD11, ARC, DICER1, CADM1, POT1, PRSS55, CBLL2, SND1, BBC3, CARMIL2, IL31RA, IL17B, H4-16, GTSF1, APOA5, FCRL3, GNG8, DROSHA, NXT1, PYCARD, CD274, IL19, OPN4, JAG1, RRM2, NCOA1, HSP90AA1, FLT4, FOSB, FOSL2, FTH1, GATA6, CXCR3, GSTM1, GTF2H4, HDAC2, HLA-C, HLA-DQB1, HLA-DRB1, HMGB1, NR4A1, ICAM3, ZNF195, IFNA2, IKBKB, IL2RG, IL3RA, IL9, TNFRSF9, IL18, IDO1, ITGB7, JAK2, JUN, JUND, KIT, KRAS, FLG, FOXO3, FKBP5, EPHA4, ANXA5, BIRC5, APOC3, FASLG, ASS1, CCND1, BCL6, BCL7A, BLK, CASP1, CASP3, CASP9, CCND2, CD5, MS4A1, CD22, CD80, CD40, CD44, CDK2, CDKN1B, CDKN1C, CHI3L1, CCR7, CSF2, CUX1, DECR1, DEFB4A, DNMT1, LAIR2, LCK, LGALS1, RAG1, RB1, REG1A, RELB, RPE65, S100A7, CCL17, CCL18, CCL21, CCL22, SDC4, SELL, SELPLG, PMEL, SST, STAT1, STAT2, AURKA, MAP3K7, CNTN2, PPP1R11, TDO2, THBS4, TP73, CRISP2, NR2C2, TRAF2, TWIST1, TNFSF4, UVRAG, RAG2, RAC1, LGALS9, PVR, LTA, MBL2, MDM4, MIA2, MGMT, CXCL9, MT1E, MTAP, NCAM1, NFATC1, NTS, NTSR1, OAS3, PAEP, PRKN, PCM1, PDGFRA, PGF, ABCB1, PIM1, PKM, PLK1, PLS3, PTEN, PTH, PTGS2, PTPN11, PTPRC, PTPRG, H3P40
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Deafness, Autosomal Recessive 14
Omim
Molecular Genetics Exclusion Studies Because DFNB14 maps close to the PDS gene mutant in Pendred syndrome (274600), Mustapha et al. (1998) sequenced all 21 exons of the PDS gene and found no mutations.
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Cutis Verticis Gyrata And Mental Retardation
Omim
Akesson (1964) found 47 cases in a survey of persons with mental retardation who were institutionalized in Sweden. Also see Rosenthal-Kloepfer syndrome (102100). Musumeci et al. (1991) suggested an association with chromosome fragile sites in 3 patients with cutis verticis gyrata.
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Macrodactyly
Omim
Follow-up examination showed development of hemihypertrophy and other findings suggesting Proteus syndrome (176920). Molecular Genetics In 6 patients with macrodactyly, Rios et al. (2013) identified 4 different somatic mutations (e.g., 171834.0022) in the PIK3CA gene in affected tissue.
- Familial Isolated Hyperparathyroidism Gard
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Torsion Dystonia With Onset In Infancy
Omim
Mostofsky et al. (1996) suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome. INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Torsion dystonia MISCELLANEOUS - Onset in infancy - Severe involvement of legs - Mild involvement of face and arms ▲ Close
- Corticosteroid-Binding Globulin Deficiency Gard
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Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis
Orphanet
Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric.
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Wart
Wikipedia
Bleomycin is not US FDA approved and can cause necrosis of digits and Raynaud syndrome . [21] [22] The usual treatment is one or two injections. ... Wart photo library , Dermnet Classification D ICD - 10 : B07 ICD - 9-CM : 078.1 MeSH : D014860 DiseasesDB : 28410 External resources MedlinePlus : 000885 eMedicine : emerg/641 Patient UK : Wart 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 Skin infections , symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV Herpes simplex Herpetic whitlow Herpes gladiatorum Herpes simplex keratitis Herpetic sycosis Neonatal herpes simplex Herpes genitalis Herpes labialis Eczema herpeticum Herpetiform esophagitis Herpes B virus B virus infection VZV Chickenpox Herpes zoster Herpes zoster oticus Ophthalmic zoster Disseminated herpes zoster Zoster-associated pain Modified varicella-like syndrome Beta Human herpesvirus 6 / Roseolovirus Exanthema subitum Roseola vaccinia Cytomegalic inclusion disease Gamma KSHV Kaposi's sarcoma Poxviridae Ortho Variola Smallpox Alastrim MoxV Monkeypox CPXV Cowpox VV Vaccinia Generalized vaccinia Eczema vaccinatum Progressive vaccinia Buffalopox Para Farmyard pox : Milker's nodule Bovine papular stomatitis Pseudocowpox Orf Sealpox Other Yatapoxvirus : Tanapox Yaba monkey tumor virus MCV Molluscum contagiosum Papillomaviridae HPV Wart / plantar wart Heck's disease Genital wart giant Laryngeal papillomatosis Butcher's wart Bowenoid papulosis Epidermodysplasia verruciformis Verruca plana Pigmented wart Verrucae palmares et plantares BPV Equine sarcoid Parvoviridae Parvovirus B19 Erythema infectiosum Reticulocytopenia Papular purpuric gloves and socks syndrome Polyomaviridae Merkel cell polyomavirus Merkel cell carcinoma RNA virus Paramyxoviridae MeV Measles Togaviridae Rubella virus Rubella Congenital rubella syndrome ("German measles" ) Alphavirus infection Chikungunya fever Picornaviridae CAV Hand, foot, and mouth disease Herpangina FMDV Foot-and-mouth disease Boston exanthem disease Ungrouped Asymmetric periflexural exanthem of childhood Post-vaccination follicular eruption Lipschütz ulcer Eruptive pseudoangiomatosis Viral-associated trichodysplasia Gianotti–Crosti syndrome v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn v t e Human papillomavirus Related diseases Cancers Cervical cancer cancers Anal Vaginal Vulvar Penile Head and neck cancer ( HPV-positive oropharyngeal cancer ) Warts genital plantar flat Laryngeal papillomatosis Epidermodysplasia verruciformis Focal epithelial hyperplasia Papilloma Others Acrochordon ( skin tags ) Vaccine HPV vaccines Cervarix Gardasil Screening Pap test : stain Bethesda system Cytopathology Cytotechnology Experimental techniques: Speculoscopy Cervicography Colposcopy Biopsy histology Cervical intraepithelial neoplasia (CIN) Koilocyte Vaginal intraepithelial neoplasia (VAIN) Vulvar intraepithelial neoplasia (VIN) Treatment Cervical conization Loop electrical excision procedure (LEEP) History Georgios Papanikolaou Harald zur Hausen
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Salt Water Aspiration Syndrome
Wikipedia
Please help improve it if you can. ( August 2017 ) ( Learn how and when to remove this template message ) Salt water aspiration syndrome is a rare diving disorder suffered by scuba divers who inhale a mist of seawater from a faulty demand valve causing irritation of the lungs . ... Contents 1 Symptoms 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Symptoms [ edit ] Symptoms of salt water aspiration syndrome include: [2] Post-dive cough, with or without sputum, usually suppressed during the dive. ... You can help by adding to it . ( February 2018 ) Treatment [ edit ] See also [ edit ] Pulmonary aspiration References [ edit ] ^ Edmonds C (September 1970). "A salt water aspiration syndrome". Mil Med . 135 (9): 779–85. doi : 10.1093/milmed/135.9.779 . PMID 4991232 . ^ a b Edmonds, C. (1998). "Drowning syndromes: the mechanism" . South Pacific Underwater Medicine Society Journal . 28 (1). ... Vandenberg HMS Ghurka Glen Strathallan SAS Good Hope Gothenburg Herzogin Cecilie Hilma Hooker Hispania HMS Hood HMAS Hobart Igara James Eagan Layne Captain Keith Tibbetts King Cruiser SMS Kronprinz Kyarra HMS Laforey USAT Liberty Louis Sheid USS LST-507 SMS Markgraf Mikhail Lermontov HMS M2 Maine Maloja HMS Maori Marguerite SS Mauna Loa USAT Meigs Mendi USCGC Mohawk Mohegan RMS Moldavia HMS Montagu MV RMS Mulheim Nagato Oceana USS Oriskany Oslofjord P29 P31 Pedernales Persier HMAS Perth SAS Pietermaritzburg Piłsudski Pool Fisher HMS Port Napier Preußen President Coolidge PS Queen Victoria Radaas Rainbow Warrior RMS Rhone Rondo Rosehill Rotorua Royal Adelaide Royal Charter Rozi HMS Safari Salem Express USS Saratoga USS Scuffle HMS Scylla HMS Sidon USS Spiegel Grove Stanegarth Stanwood Stella HMAS Swan USS Tarpon Thesis Thistlegorm Toa Maru Torrey Canyon SAS Transvaal U-40 U-352 U-1195 Um El Faroud Varvassi Walter L M Russ Washingtonian (1913) HMNZS Wellington USS Yancey Yongala Zenobia Zealandia Zingara Cave diving sites Blauhöhle Chinhoyi Caves Devil's Throat at Punta Sur Engelbrecht Cave Fossil Cave Jordbrugrotta Piccaninnie Ponds Pluragrotta Pollatoomary Sistema Ox Bel Ha Sistema Sac Actun Sistema Dos Ojos Sistema Nohoch Nah Chich Freshwater dives Dutch Springs Ewens Ponds Little Blue Lake Training sites Capernwray Dive Centre Deepspot National Diving and Activity Centre Stoney Cove Open ocean diving Blue-water diving Black-water diving Diving safety Human factors in diving equipment design Human factors in diving safety Life-support system Safety-critical system Scuba diving fatalities Diving hazards List of diving hazards and precautions Environmental Current Delta-P Entanglement hazard Overhead Silt out Wave action Equipment Freeflow Use of breathing equipment in an underwater environment Failure of diving equipment other than breathing apparatus Single point of failure Physiological Cold shock response Decompression Nitrogen narcosis Oxygen toxicity Seasickness Uncontrolled decompression Diver behaviour and competence Lack of competence Overconfidence effect Panic Task loading Trait anxiety Willful violation Consequences Barotrauma Decompression sickness Drowning Hypothermia Hypoxia Hypercapnia Hyperthermia Diving procedures Ascending and descending Emergency ascent Boat diving Canoe and kayak diving Buddy diving buddy check Decompression Decompression practice Pyle stop Ratio decompression Dive briefing Dive log Dive planning Scuba gas planning Diver communications Diving hand signals Diving line signals Diver voice communications Diver rescue Diver training Doing It Right Drift diving Gas blending for scuba diving Night diving Solo diving Water safety Risk management Checklist Hazard identification and risk assessment Hazard analysis Job safety analysis Risk assessment Risk control Hierarchy of hazard controls Incident pit Lockout–tagout Permit To Work Redundancy Safety data sheet Situation awareness Diving team Bellman Chamber operator Diver medical technician Diver's attendant Diving supervisor Diving systems technician Gas man Life support technician Stand-by diver Equipment safety Breathing gas quality Testing and inspection of diving cylinders Hydrostatic test Sustained load cracking Diving regulator Breathing performance of regulators Occupational safety and health Approaches to safety Job safety analysis Risk assessment Toolbox talk Housekeeping Association of Diving Contractors International Code of practice Contingency plan Diving regulations Emergency procedure Emergency response plan Evacuation plan Hazardous Materials Identification System Hierarchy of hazard controls Administrative controls Engineering controls Hazard elimination Hazard substitution Personal protective equipment International Marine Contractors Association Occupational hazard Biological hazard Chemical hazard Physical hazard Psychosocial hazard Occupational hygiene Exposure assessment Occupational exposure limit Workplace health surveillance Safety culture Code of practice Diving safety officer Diving superintendent Health and safety representative Operations manual Safety meeting Standard operating procedure Diving medicine Diving disorders List of signs and symptoms of diving disorders Cramp Motion sickness Surfer's ear Pressure related Alternobaric vertigo Barostriction Barotrauma Air embolism Aerosinusitis Barodontalgia Dental barotrauma Pulmonary barotrauma Compression arthralgia Decompression illness Dysbarism Oxygen Freediving blackout Hyperoxia Hypoxia Oxygen toxicity Inert gases Avascular necrosis Decompression sickness Isobaric counterdiffusion Taravana Dysbaric osteonecrosis High-pressure nervous syndrome Hydrogen narcosis Nitrogen narcosis Carbon dioxide Hypercapnia Hypocapnia Breathing gas contaminants Carbon monoxide poisoning Immersion related Asphyxia Drowning Hypothermia Immersion diuresis Instinctive drowning response Laryngospasm Salt water aspiration syndrome Swimming-induced pulmonary edema Treatment Demand valve oxygen therapy First aid Hyperbaric medicine Hyperbaric treatment schedules In-water recompression Oxygen therapy Therapeutic recompression Personnel Diving Medical Examiner Diving Medical Practitioner Diving Medical Technician Hyperbaric nursing Screening Atrial septal defect Effects of drugs on fitness to dive Fitness to dive Psychological fitness to dive Research Researchers in diving physiology and medicine Arthur J.
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16p12.2 Recurrent Deletion
Gene_reviews
Summary Clinical characteristics. 16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate specific phenotypes with the 16p12.2 recurrent deletion. ... Note: Since this deletion is recurrent and mediated by segmental duplications, the unique genetic sequence that is deleted is the same in all individuals with the syndrome; however, the reported size of the deletion may: (1) be larger if adjacent segmental duplications are included in the size and (2) vary based on the design of the microarray used to detect it (see Molecular Pathogenesis). ... Approximately 40% of probands with a 16p12.2 deletion experienced seizures and/or had abnormal findings on EEG. Seizure types included West syndrome, Lennox-Gastaut syndrome, staring spells, epilepsy with myoclonus, and febrile seizures [Girirajan et al 2010, Pizzo et al 2018]. ... The proportion of males is higher among all individuals with a CNV associated with reduced penetrance and variable expressivity (like a 16p12.2 recurrent deletion) as compared to those with syndromic CNVs (like Smith-Magenis syndrome, where the proportion of males is ~50%), suggesting that penetrance may be higher in males than females [Girirajan et al 2012, Jacquemont et al 2014]. ... Prevalence The estimated frequency of 16p12.2 recurrent deletion – on the order of 0.19% of individuals undergoing clinical microarray-based testing [Rosenfeld et al 2013] – is similar to that of Smith-Magenis syndrome, suggesting that Smith-Magenis syndrome and 16p12.2 recurrent deletion associated with an abnormal phenotype may have a similar incidence of approximately 1:15,000 live births [Girirajan et al 2010].
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Ap-4-Associated Hereditary Spastic Paraplegia
Gene_reviews
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. ... Brain iron accumulation has been reported in one family with AP4M1 -related AP-4 deficiency syndrome [Roubertie et al 2018] and one individual with AP4S1 -related AP-4 deficiency syndrome [Vill et al 2017]. ... Other Terms Used to Refer to AP-4-Associated Hereditary Spastic Paraplegia Subtypes View in own window Subtype Terms AP4B1 -related AP-4 deficiency syndrome Hereditary spastic paraplegia type 47 Spastic paraplegia type 47 (SPG47 1 ) AP4B1 -related hereditary spastic paraplegia (HSP-AP4B1) AP4E1 -related AP-4 deficiency syndrome Hereditary spastic paraplegia type 51 Spastic paraplegia type 51 (SPG51) AP4E1 -related hereditary spastic paraplegia (HSP-AP4E1) AP4M1 -related AP-4 deficiency syndrome Hereditary spastic paraplegia type 50 Spastic paraplegia type 50 (SPG50) AP4M1 -related hereditary spastic paraplegia (HSP-AP4M1) AP4S1 -related AP-4 deficiency syndrome Hereditary spastic paraplegia type 52 Spastic paraplegia type 52 (SPG52) AP4S1 -related hereditary spastic paraplegia (HSP-AP4S1) 1. ... GBA2 (SPG46) AR Congenital cataracts Hearing loss Neuropathy GJC2 (SPG44) AR Later onset L1CAM (SPG1; L1 syndrome) XL Adducted thumbs NT5C2 (SPG45 [SPG65]) AR Optic atrophy is more common.
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Velamentous Cord Insertion
Wikipedia
External links [ edit ] Classification D ICD - 10 : O43.1 ICD - 9-CM : 762.6 DiseasesDB : 34591 External resources eMedicine : med/3276 v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal
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Hyperkinesia
Wikipedia
For the childhood-onset psychiatric syndrome, see Hyperkinetic disorder . This article needs more medical references for verification or relies too heavily on primary sources . ... Psychiatric disturbances such as irritability, impulsiveness, aggressiveness, and mood disturbances are also common. [6] Restless leg syndrome [ edit ] Restless leg syndrome is a disorder in which patients feel uncomfortable or unpleasant sensations in the legs. ... This is a very common problem and can occur at any age. [6] Similarly, the syndrome akathisia ranges from mildly compulsive movement usually in the legs to intense frenzied motion. ... It has also been proven effective in treating cervical and cranial-cervical dystonia. [19] Tics [ edit ] Treatment of tics present in conditions such as Tourette's syndrome begins with patient, relative, teacher and peer education about the presentation of the tics. ... "Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study" .FMR1, MTOR, DRD4, KRAS, CNTNAP2, SATB2, DYRK1A, NAGLU, IGF1, KDM6B, STXBP1, TSHR, PTCH1, CC2D1A, ATR, HTT, UBE3A, NTRK1, GRIK2, ARG1, PAH, RAI1, GNAO1, PDE4D, ASH1L, SHANK3, DHCR7, HIVEP2, KMT2A, SLC6A8, ALDH5A1, MED23, MAPK10, SMC1A, NRXN1, SCN1A, ARX, MED12, NDST1, SLC1A4, CHD2, HUWE1, SCN2A, IL1B, MBD5, SIK1, HNMT, NLRP3, PQBP1, INPP5E, FLCN, KCNK9, CLCN4, TCF20, PIGQ, RAB39B, CRH, METTL23, CREBBP, SGSH, SLC6A3, NSUN2, HGSNAT, FRMPD4, LINS1, IL6, RUSC2, CCBE1, COMT, PUS7, ST3GAL3, CTNNB1, B3GALNT2, AIMP1, TECR, DDX3X, EP300, SMARCC2, LNPK, TRIP12, ZSWIM6, FBXO11, TTI2, EDC3, SNAP25, PGAP1, PANK2, STAT3, ZC3H14, GCSH, GAMT, GABRB3, FBXO31, SLC25A22, CXorf56, AFF2, MBOAT7, IRF2BPL, LMAN2L, GLDC, FMN2, TRIM8, TAF6, PIGY, DNM1, HAL, KCNA1, DPYD, KIF15, DRD5, NR3C1, C12orf4, ADGRG1, GNS, EGFR, UQCC2, GATAD2B, SMARCB1, CDKL5, SHROOM4, PCDH19, TRAPPC9, MED25, HERC2, RSRC1, SPR, PLA2G6, PIGC, BDNF, AKT1, EBP, PIK3CA, NEUROD2, UBTF, FRRS1L, PIK3CG, SHOC2, PIK3CB, NBN, PIK3CD, REN, CRADD, DPF2, CASK, TUSC3, YME1L1, TNIK, PAK3, OPHN1, ADNP, EZR, CUX2, CAMTA1, ATP1A1, PRSS12, ANK3, CUL4B, POGZ, AMT, ATRX, STAG2, PTEN, TSC2, PUF60, KDM5B, ACY1, WDR62, AASS, KANSL1, PRKAR1A, CLIP1, SLC45A1, CD40LG, NSDHL, NEXMIF, PRODH, BCAP31, CRBN, PIGP, SARS1, MID2, NKX2-1, PPP3CA, MANBA, IL1RAPL1, DCPS, PNKP, SIN3A, BSCL2, FOXP1, ADSL, MECP2, ARID1A, WARS2, MAN1B1, APC2, SLC25A13, TP53, CORO1A, WASHC4, POMC, F9, GSK3B, ACE, AR, SNCA, ATM, MAPK1, RAC1, TNF, TGFB1, MAPT, PVALB, LRRK2, MYC, DRD2, TNFSF13B, AICDA, BRCA1, TAC1, PLXNA2, ERBB2, IL4, IL6ST, MAPK3, SLC6A2, CDK5, APP, NM, EIF4E, LRPPRC, NF1, ADRA2A, FOXO3, CFTR, GRM5, GABPA, PTGS2, EPHB2, LINC01672, TSC1, BRAF, NFE2L2, MTHFR, ABCB1, STAT5B, IL18, SOD1, PTPN11, SLC6A4, YAP1, MAOA, GRM7, NT5C2, IL1A, NPY, GJA1, MAP2K7, CYP19A1, DECR1, PARP1, EZH2, STAT5A, ACHE, ADCY5, APOE, VEGFA, FASN, TOR1A, TLR4, CD40, CDKN2A, ELK3, DNMT1, PTH, DEPDC5, HRES1, AIMP2, LGI1, SLC2A1, AHSA1, NRG1, SLC9A1, PRRT2, HGF, CDH13, PRKAA1, ORAI1, POLDIP2, COX2, CTLA4, DISC1, CDK5R1, AGTR1, TH, IL13, IL11, AKT2, CD36, RPS6KB1, SENP1, SMAD3, CREB1, TMED9, IL2, CRK, MAPK14, IFNG, PON1, TACR1, HTR2A, HTR1B, DNMT3B, LCN2, RNF19A, PRKCA, GRAP2, TRPV1, SST, SIRT3, TARDBP, AQP4, ACTB, ESR1, ADAM33, TPPP, GLS, JAK2, GRIN1, GRIA1, MYD88, PRKAB1, PRKAA2, BHLHE40, LMNA, LPA, APOB, NR4A2, PDE10A, DUOX2, VGF, AVP, GIT1, SMAD7, AVPR1A, CARS1, TNFRSF13B, PSAT1, TRAF3IP2, AHR, SAA1, CDK1, IL27, NEDD4L, KDR, SAA2, CALCA, S100B, IL22, AGT, S100A1, P2RY1, NPAS4, VWF, LEP, PHEX, MS4A1, OGT, ADGRL3, NPS, BRD2, CFP, BCR, MGAT5, RAF1, PRKN, RAD51, NF2, CAT, MMP9, MIR142, RHO, BRCA2, SMUG1, CASR, BAX, AKR1B1, CD19, SLC9A9, REM1, RET, CASP1, MVK, TP53BP1, NGF, UNG, ALK, MDM2, PAK1, RUNX3, BCL2, CD6, P2RX4, CDK2, SLC8A1, MCHR1, CLOCK, GRK5, MTCO2P12, SLC12A3, DUSP1, GRM1, DRD3, EBPL, DNM2, CYBB, HCRT, DMD, HDAC1, DBH, HIF1A, DAO, WDR20, HMGA1, ADAMTS13, ABCC8, EGF, PRKCB, EIF4A2, SPINK5, SRF, FGFR3, MUL1, CLSTN2, MAP2K1, FCGR3A, GAD1, PTK2B, GATA1, GCK, ADAMTS2, GH1, GJB2, ACVR1, EPHB1, ENPEP, ELANE, EIF4G1, HMOX1, HMGB1, PPARGC1A, SHANK2, C1QL1, DNM1L, USP8, PTCHD1, IL5, ABCB6, ILK, IL17A, HOXD13, TGM2, PNPLA6, CNR2, GPR88, KRT20, CETP, EXO1, SCNN1A, IFNA13, IFNA1, IFI27, LPAR2, SCN8A, RELN, HTR1A, DKK1, CDKN2B, ATXN7, CNDP2, CDK9, PGR-AS1, MBD2, CBLL2, H4C8, H4C3, COPS5, H4C11, H4C14, ELP1, IKBKG, H4C13, PARG, PPM1D, H4C5, MLLT11, NMU, H4C2, RAB40B, ULK1, KCNQ1OT1, DOC2A, LOH19CR1, LTBP4, TXNL4A, ABCG2, DGKE, DENR, CDKL2, CLDN2, MELK, LATS1, KEAP1, PIEZO1, HDAC4, ARHGEF2, SART3, SLC16A7, ESPL1, IKBKE, SLC33A1, FEZ1, NCOR1, PDLIM7, CARTPT, PRDX6, GOSR2, NRG2, S1PR2, ATF7, NPEPPS, TBPL1, SLC4A7, SLIT2, PICK1, KL, NCR1, PLPPR4, MFN2, NR1I3, TNFRSF11A, OGA, CNPY3, USO1, TP63, JRK, PTCH2, SLC4A4, BECN1, RIPK2, GNA13, DCTN6, CTCF, CXCR6, ZNRD2, ABI1, PROM1, CAP1, VAV3, APLN, SIGMAR1, PER2, IER3, G3BP1, FADS2, SQSTM1, EIF2B2, TRPA1, HCN4, AADAC, GPRC5B, RAB35, RSS, CARD16, ESCO1, OSBPL1A, CGAS, MRGPRX3, MRGPRX4, H4-16, OSR1, GNPDA2, GPR151, TAAR1, GSG1L, STON1-GTF2A1L, APCDD1, OXER1, SLC30A8, NRK, ANO5, HEPACAM, GPRC6A, CADM2, MRGPRX1, IS1, H19, WNT3A, RERG, BEX2, MAK16, APOBEC3G, SRR, NOD2, IFIH1, CPEB1, RAPH1, NBEAL1, MLPH, MMEL1, KREMEN2, TNFAIP8L2, LIN28A, GSDMD, DHDDS, STN1, BICC1, TRAF3IP3, ITCH, DTNBP1, RNASEH2C, NUDT16L1, CARD11, NKX6-2, BTBD8, RAB7B, LGR6, POU5F1P3, MDD1, EIF2AK4, MIAT, VN1R17P, GPR166P, MIR326, MIR335, MIR424, H4C15, MIR146B, MIR484, RASSF10, FFAR4, POU5F1P4, UCA1, RNA28SN5, CD24, TMED7-TICAM2, AAA1, DCST1-AS1, BED, AK6, LOC110806262, H3P23, MIR34C, MIR34B, MIR34A, MIR30A, TMEM240, NAT8L, TSPAN33, HCN1, ZACN, TICAM2, PEAR1, SUMO4, NPSR1, ELFN1, CRIP3, NPSR1-AS1, MIR122, MIR126, MIR140, MIR149, MIR15B, MIR195, MIR22, MIR23A, MIR27B, MIR29B1, MIR29B2, SAV1, SENP2, STON1, HAVCR1, CA14, FLRT2, CBY1, NIPBL, SOSTDC1, WWTR1, NOC2L, CLEC4E, SLC17A5, LATS2, GREM1, BBC3, SHANK1, VPS4A, DIMT1, RBMS3, RABGEF1, SGSM3, HTRA2, EML4, EEF2K, NT5C, RRM2B, DELEC1, BACE1, DAPK2, PRG1, LPAR3, SOX30, PTP4A3, NUDT3, STRAP, CHEK2, ANKRD26, ZHX2, ABLIM3, SIRT2, PTGR1, SMG1, IQSEC2, PHF8, TBC1D9, BICD2, SASH1, VPS39, CRTC1, SIRT5, SIRT4, SIRT1, SUZ12, SRRM2, FOXP3, SOST, DLGAP3, LXN, IL17RB, CARMIL1, CDK5RAP2, NGLY1, ST6GALNAC1, CENPJ, RNF20, RETN, ZC3HAV1, BDH2, PNO1, ENY2, TMED7, CHPT1, ACKR3, SLC17A7, CD248, CYP20A1, NDRG2, SLC12A5, NUFIP2, LRRC4C, GRHL3, NLRC4, SLC30A10, APPL2, TESC, ULK4, ING4, MZB1, TLR7, DACT1, IL23A, AZIN1, H4C6, WWOX, RTEL1, ATP8A2, IL17D, SLCO1C1, TLR9, NANS, TREM2, TERF2IP, NLGN3, DDIT4, DLL4, RBFOX1, TET2, BCOR, TTC12, H4C12, ATXN1, H4C4, CBLIF, FLNB, FLOT2, FLT1, GAST, FUS, XRCC6, GAD2, GCY, GDNF, GFAP, GFER, GFI1, GPC3, FOXO1, GLB1, GCLC, GLI2, GLRX, GLUD1, GLUL, GNAS, GNRH1, GP1BA, GPR42, GPT, GPX1, FLNA, VEGFD, H4C1, F10, EMD, EN2, ENG, ENO2, EPHA3, EPO, ERBB4, ERG, ERN1, ESRRG, ETV6, MECOM, FAAH, FHL1, FABP4, FABP3, FABP7, FANCD2, FCER2, FCGR2B, FCGR3B, FKTN, FDX1, FGF2, FGFR2, FHIT, GRB2, GRIN2B, GRM2, IRS1, IL6R, IL7R, CXCL8, IL10, IL15RA, FOXK2, IMPA1, IDO1, INSL3, INSRR, IRAK1, IRF4, ISG20, GSTP1, ISL1, ITGA2B, ITGAL, ITGB3, ITPR1, ITPR3, JAK1, KCNJ5, KCNJ6, KCNMA1, KCNQ2, KIT, IL3, IL2RA, IGHE, IGHA1, GSTT1, GUCY2C, GZMB, H1-4, CFH, HFE, HK1, HK2, HLF, HMMR, HNF4A, SLC29A2, HNRNPU, HP, HRC, HSD3B1, HSPB1, HTR2C, HTR6, TNC, IARS1, IDH1, IGF1R, IGFBP2, IGFBP3, ELK1, EIF4EBP1, EGR1, BMP2, ARRB1, ARSD, SERPINC1, ZFHX3, ATF3, ATP1A2, ATP1A3, ADGRB2, CCND1, TNFRSF17, CFB, BMI1, BMP6, RUNX1, BNIP3L, BRS3, KLF5, BTK, BUB1B, CAPN5, VPS51, CACNA2D1, CALB2, CALR, CAPN1, CAV1, ARF6, KLK3, APRT, APOH, ABL1, ACP1, ADAM10, ADAR, ADARB1, ADCYAP1, ADRA1A, ADRA2B, GRK2, AFP, ACAN, AGER, AGRP, AGTR2, APLNR, ALB, ALOX15, AMBP, AMH, AMY1A, AMY1B, AMY1C, ANGPT2, ANPEP, APOA4, RUNX2, CBS, EDNRA, CYLD, CRHR1, CRHR2, CRMP1, CRP, CRY1, CRYAB, CSF2, CSF3, CTRL, CTSD, CUX1, CX3CR1, CYP1A1, CCND2, CYP1B1, CYP2C19, DAPK1, SEPTIN1, DLG1, DLG4, DNMT3A, DNTT, DPP4, DTYMK, DUSP5, EDN1, CREM, CPOX, CPD, CPB2, CD9, CD14, CD28, CD86, CD37, CD38, CD44, CD48, CD70, CD72, CD79B, CDC42, CDH11, CDK6, CDK8, CDKN1A, CDX1, CDX2, CHRNA4, CLN3, CCR7, CNR1, COL11A2, COPA, CORD1, KRT16, KRT19, LAMC2, SLCO2A1, ST3GAL2, ST3GAL4, SKI, SLA, SLC1A1, SLC1A2, SLC6A1, SLC12A1, SLC12A2, SLC16A1, SLC18A2, SLC18A3, SMPD1, STAT6, SMS, SUMO2, SNCB, SNCG, SNRPN, SOAT1, SOX4, SOX11, AKR1D1, SREBF1, TRIM21, SSTR4, FBXW4, SHBG, SH3BP2, SGCG, RGS4, RMRP, RNASE1, RNASE3, RNH1, ROS1, RP1, RPS3, RPS6KA1, RPS6KA2, RPS6KA3, RPS19, RYR2, S100A12, TSPAN31, ABAT, CCL2, CCL5, CCL25, CX3CL1, CXCL12, SELP, SELENOP, SFRP2, SFRP4, STAT1, AURKA, REST, MALL, SUMO1, UCHL1, UCP2, UMOD, UTRN, VIP, WAS, NSD2, ZAP70, PRDM2, LEPQTL1, TUBA1A, FZD5, STXBP2, USP7, RAB7A, FZD3, CCDC6, FGF23, KMT2D, CDR3, H4C9, BRAP, FZD1, FZD4, FZD7, TYK2, TNFRSF4, TNFSF4, TWIST1, ADAM17, TAT, TBX15, TBXA2R, TCF3, TRBV20OR9-2, TERT, NR2F2, TFF3, TFRC, TG, TGFB3, TGFBR2, THBS1, THPO, THRSP, TLR2, TLR5, TNS1, TOP3A, TPO, TPT1, TRAF3, TRH, TTN, RFX1, RARA, LCK, NFATC3, ABCC1, MYO1B, MSH3, MSN, MSX1, MTM1, MUC1, MYCN, MYO5A, MYOD1, NEDD8, NFIA, NFIB, OPRM1, NFIC, NFIX, NOS1, NOS3, NOTCH2, NOTCH3, NPM1, NPY1R, NPY2R, NRAS, NTF4, NUP98, MRE11, MPO, MLH1, ATXN3, LCP2, LDHA, LGALS3, LGALS9, LIF, LRP2, LRP6, LRP5, EPCAM, SMAD2, SMAD4, MAOB, MATK, MC2R, MCC, MCL1, CD46, MDM4, MEF2C, MEFV, RAB8A, MET, MFAP1, MGAT1, MGMT, OPRK1, OSM, RAP1A, PSEN1, PTPA, SRGN, PKN1, PRKD1, MAPK8, MAPK9, MAP2K5, PRL, PRLR, PROC, PROS1, PRSS8, PSEN2, P2RX1, PSMD9, PTBP1, TAS2R38, PTK6, PTPN2, PTPN6, PTPRC, RAB3A, RAB27A, RAC3, RAD9A, RAD51B, PPL, MED1, PPARA, POU5F1, P2RX7, PAX6, PC, PDB1, PDCD1, PDE2A, PDE3A, PDGFA, PDK3, ENPP2, SLC26A4, SERPINF1, PGAM1, PGM3, PGR, PIK3R1, PKD1, PLAG1, PLAGL1, PLAT, PLCG1, PLCG2, PLK1, PLTP, PLXNB1, H3P10
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Spectrum Disorder
Wikipedia
In either case, a spectrum approach is taken because there appears to be "not a unitary disorder but rather a syndrome composed of subgroups". The spectrum may represent a range of severity, comprising relatively "severe" mental disorders through to relatively "mild and nonclinical deficits ". [1] In some cases, a spectrum approach joins together conditions that were previously considered separately. ... A depersonalization - derealization spectrum [12] [13] – although the DSM identifies only a chronic and severe form of depersonalization disorder, and the ICD a 'depersonalization-derealization syndrome', a spectrum of severity has long been identified, including short-lasting episodes commonly experienced in the general population and often associated with other disorders. Obsessions and compulsions [ edit ] An obsessive–compulsive spectrum [14] – this can include a wide range of disorders from Tourette syndrome to the hypochondrias , as well as forms of eating disorder , itself a spectrum of related conditions. [15] General developmental disorders [ edit ] An autistic spectrum [16] – in its simplest form this joins together autism and Asperger syndrome , and can additionally include other pervasive developmental disorders (PDD). These include PDD 'not otherwise specified' (including 'atypical autism'), as well as Rett syndrome and childhood disintegrative disorder (CDD). ... In another direction, numerous links and overlaps have been found between major depressive disorder and bipolar syndromes, including mixed states (simultaneous depression and mania or hypomania ).
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Ketosis
Wikipedia
Ketosis is well-established as a treatment for epilepsy and is also effective in treating type 2 diabetes. [5] The possible effect on a range of neurological diseases, metabolic syndrome , [6] [7] cancer, and other conditions is currently under investigation. ... This results in reduction in fasting glucose and insulin and hemoglobin A1c as well as reduced need for exogenous insulin. [19] Obesity and metabolic syndrome [ edit ] Ketosis can improve markers of metabolic syndrome through reduction in serum triglycerides , elevation in high-density lipoprotein (HDL) as well as increased size and volume of low-density lipoprotein (LDL) particles. ... S2CID 52920398 . ^ Ketogenic diet improves metabolic syndrome in multiple ways , diabetes.co.uk, Dec. 2017 ^ Gershuni, Victoria M.; Yan, Stephanie L.; Medici, Valentina (20 August 2018). "Nutritional Ketosis for Weight Management and Reversal of Metabolic Syndrome" . Current Nutrition Reports . 7 (3): 97–106. doi : 10.1007/s13668-018-0235-0 . ... "Nutritional Ketosis for Weight Management and Reversal of Metabolic Syndrome" . Current Nutrition Reports . 7 (3): 97–106. doi : 10.1007/s13668-018-0235-0 .ACAT1, PAX4, INS, SLC16A1, GCK, ABCC8, ITPR3, IL6, GYS2, POLG2, GK, GHSR, POLG, HNF1A, MLYCD, FBP1, PTPN22, EIF2AK3, DBT, PDX1, RRM2B, ACSF3, SLC5A2, TWNK, PHKG2, MMAA, ATP5F1D, BCKDHA, BCKDHB, ACADM, PHKA2, CA5A, IVD, MMAB, MCCC2, KCNJ11, SLC25A4, FGF21, GLP1R, SLC30A8, SLC30A10, GCG, LEP, MCTS1, MCAT, CMA1, INSR, SREBF1, SOAT1, SLC2A2, PTEN, MAPK3, PPARD, ACAA1, TNF, CHPT1, ZGLP1, ZFP57, TAS2R12P, NRSN1, RBM45, SOCS4, EHMT1, APOBR, UBL4A, ATG14, CHP1, TPPP, TMED2, ACAA2, RGS6, CD163, POMC, MARK1, PIK3CG, PTK2B, DMD, CYP7A1, CYP2E1, CYC1, CPT2, CPT1A, CORT, CDR2, CD9, CCK, BMP4, BGLAP, APOE, ALDH2, AKT2, AKT1, AHSG, ADH1B, ACP1, DPP4, G6PD, PIK3CD, GAD1, PIK3CB, PIK3CA, PAX6, OXCT1, ORM1, TNFRSF11B, NHS, CD46, LPL, IL1B, IFNG, IDE, HNF4A, HLCS, HLA-DRB1, HIF1A, HADHB, GCLC, GAD2, H3P19
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Relapsing Polychondritis
Wikipedia
Relapsing polychondritis Other names Atrophic polychondritis, [1] systemic chondromalacia, [1] chronic atrophic polychondritis, Meyenburg-Altherr-Uehlinger syndrome, generalized chondromalacia Ear inflammation with sparing of ear lobe in a person with relapsing polychondritis [2] Specialty Rheumatology Relapsing polychondritis is a multi-systemic condition characterized by repeated episodes of inflammation and deterioration of cartilage . ... Class of disease Specific type of disease Vasculitides Granulomatosis with polyangiitis , [4] eosinophilic granulomatosis with polyangiitis , [4] polyarteritis nodosa , [4] Behçet's disease , [4] [5] Takayasu's arteritis , [4] leukocytoclastic vasculitis , [4] temporal arteritis [4] and systemic vasculitis . [5] Autoimmune diseases Systemic lupus erythematosus , [4] [5] systemic scleroderma , [4] mixed connective tissue disease , [4] [5] autoimmune thyroiditis , [4] Sjögren's syndrome , [4] dermatomyositis , [4] antiphospholipid syndrome , [4] autoimmune hemolytic anemia , [4] Hashimoto's thyroiditis . [5] Other Rheumatologic diseases Rheumatoid arthritis , [4] [5] spondyloarthropathy , [4] [5] reactive arthritis , [4] polymyalgia rheumatica . [4] [5] Hematologic disorders Myelodysplasia , [4] myeloproliferative neoplasm . [4] [5] Dermatologic diseases Psoriasis , [4] atopic dermatitis , [4] lichen ruber planus , [4] vitiligo . [4] Autoinflammatory diseases Familial Mediterranean fever . [4] Others Primary biliary cirrhosis , [4] [5] ulcerative colitis , [4] Crohn's disease , [4] diabetes mellitus , [4] pulmonary fibrosis . [5] Cartilage inflammation [ edit ] Cartilage inflammation (technically known as chondritis) that is relapsing is very characteristic of the disease and is required for the diagnosis of RP. [3] These recurrent episodes of inflammation over the course of the disease may result in breakdown and loss of cartilage. [3] The signs and symptoms of cartilage inflammation in various parts of the body will be described first. [ citation needed ] Ear [ edit ] A cauliflower ear deformity Inflammation of the cartilage of the ear is a specific symptom of the disease and affects most people. [3] It is present in about 20% of persons with RP at presentation and in 90% at some point. [3] Both ears are often affected but the inflammation may alternate between either ear during a relapse. [3] It is characteristic for the entire outer part of the ear except the earlobe to be swollen, red, or less often purplish, warm and painful to light touch. [3] The inflammation of the ear usually lasts a few days or more, rarely a few weeks, and then resolves spontaneously and recurs at various intervals. [3] Because of the loss of cartilage, after several flares cauliflower ear deformity may result. [3] The outer part of the ear may be either floppy or hardened by calcifications of the scar tissue that replaces the cartilage. [3] These cauliflower ear deformities occur in about 10% of persons with RP. [3] Nose [ edit ] The inflammation of the cartilage of the nose involves the bridge of the nose and is often less marked than the ears. [3] Statistics show that this clinical manifestation is present in 15% of persons with RP and occurs at some point in 65% of persons with RP. [3] Nasal obstruction is not a common feature. [3] Atrophy may eventually develop secondarily during the disease, this appears gradual and is not easily noticed. [3] This can result in collapse of the nasal septum with saddle-nose deformity, which is painless but irreversible. [3] Respiratory tract [ edit ] Inflammation occurs in the laryngeal, tracheal and bronchial cartilages. [6] Both of these sites are involved in 10% of persons with RP at presentation and 50% over the course of this autoimmune disease, and is more common among females. [3] The involvement of the laryngotracheobronchial cartilages may be severe and life-threatening; it causes one-third of all deaths among persons with RP. [3] [4] Laryngeal chondritis is manifested as pain above the thyroid gland and, more importantly, as dysphonia with a hoarse voice or transient aphonia . [3] Because this disease is relapsing, recurrent laryngeal inflammation may result in laryngomalacia or permanent laryngeal stenosis with inspiratory dyspnea that may require emergency tracheotomy as a temporary or permanent measure. [3] Tracheobronchial involvement may or may not be accompanied with laryngeal chondritis and is potentially the most severe manifestation of RP. [ citation needed ] The symptoms consist of dyspnea, wheezing, a nonproductive cough, and recurrent, sometimes severe, lower respiratory tract infections. [3] [4] Obstructive respiratory failure may develop as the result of either permanent tracheal or bronchial narrowing or chondromalacia with expiratory collapse of the tracheobronchial tree. [3] Endoscopy, intubation, or tracheotomy has been shown to hasten death. [3] Ribs [ edit ] Involvement of the rib cartilages results in costochondritis . [3] Symptoms include chest wall pain or, less often, swelling of the involved cartilage. [3] The involvement of the ribs is seen in 35% of persons with RP but is rarely the first symptom. [3] Other manifestations [ edit ] Relapsing polychondritis may affect many different organ systems of the body. ... Vascular involvement Takayasu's arteritis , polyarteritis nodosa , Behçet's disease , antiphospholipid syndrome . Vestibular disease Posterior circulation infarct , vestibulitis, benign paroxysmal vertigo , Ménière's disease . ... External links [ edit ] Classification D ICD - 10 : M94.1 ICD - 9-CM : 733.99 MeSH : D011081 DiseasesDB : 10248 External resources eMedicine : med/2000 derm/375 Patient UK : Relapsing polychondritis v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease
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Strongyloidiasis
Wikipedia
In some people, particularly those who require corticosteroids or other immunosuppressive medication, Strongyloides can cause a hyperinfection syndrome that can lead to death if untreated. ... As the infection continues and the larvae matures, there may be respiratory symptoms ( Löffler's syndrome ). The infection may then become chronic with mainly digestive symptoms. ... Pulmonary symptoms (including Löffler's syndrome ) can occur during pulmonary migration of the filariform larvae. ... PMID 20733481 . ^ Marcos LA, Terashima A, Dupont HL, Gotuzzo E (April 2008). "Strongyloides hyperinfection syndrome: an emerging global infectious disease". ... "Strongyloides stercoralis hyperinfection syndrome and disseminated disease" . Gastroenterology & Hepatology . 7 (11): 766–8.