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Madras Motor Neuron Disease
Wikipedia
MMND can be differentially diagnosed from similar conditions like Fazio-Londe syndrome and amyotrophic lateral sclerosis , in that those two conditions don't involve sensorineural hearing loss , while MMND, Brown-Vialetto-Van Laere syndrome (BVVLS), Nathalie syndrome, and Boltshauser syndrome do. Nathalie syndrome does not involve lower cranial nerve symptoms, so it can be excluded if those are present. If there is evidence of lower motor neuron involvement, Boltshauser syndrome can be excluded. Finally, if there is a family history of the condition, then BVVLS is more likely, as MMND tends to be sporadic. [4] Classification [ edit ] Madras motor neuron disease (MMND) is a motor neuron disease affecting primarily lower motor neurons . ... Retrieved 26 March 2017 . ^ Sathasivam, S (17 April 2008). "Brown-Vialetto-Van Laere syndrome" . Orphanet Journal of Rare Diseases . 3 : 9. doi : 10.1186/1750-1172-3-9 .
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Chemical Pneumonitis
Wikipedia
It may also be caused by the use of inhalants . Mendelson's syndrome is a type of chemical pneumonitis. ... References [ edit ] ^ Marik, PE (May 2011). "Pulmonary aspiration syndromes". Current Opinion in Pulmonary Medicine . 17 (3): 148–54. doi : 10.1097/MCP.0b013e32834397d6 . ... Retrieved on 2009-10-06 ^ Taylor, G (1975). "Acid Pulmonary Aspiration Syndrome After Antacids". British Journal of Anaesthesiology . 47 : 615–617. External links [ edit ] Classification D External resources MedlinePlus : 000143 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis
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Hypomenorrhea
Wikipedia
Disorders causing scanty menstruation [ edit ] One cause of hypomenorrhea is Asherman's syndrome (intrauterine adhesions), of which hypomenorrhea (or amenorrhea ) may be the only apparent sign. ... Tests for the level of hormones such as follicle-stimulating hormone , luteinizing hormone , estrogen, prolactin , insulin are important. In polycystic ovarian syndrome , there will be high levels of insulin and androgens. ... "Traumatic hypomenorrhea-amenorrhea (Asherman's syndrome)". Fertil. Steril . 30 (4): 379–87. doi : 10.1016/s0015-0282(16)43568-5 . ... Retrieved September 24, 2011 . v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder v t e Menstrual cycle Events and phases Menstruation Follicular phase Ovulation Luteal phase Life stages Menarche Menopause Tracking Signs Basal body temperature Cervical mucus Mittelschmerz Systems Fertility awareness Calendar-based methods Billings Ovulation Method Creighton Model Suppression Extended cycle combined hormonal contraceptive Lactational amenorrhea Disorders Amenorrhea Anovulation Dysmenorrhea Hypomenorrhea Irregular menstruation Menometrorrhagia Menorrhagia Metrorrhagia Oligomenorrhea Related events Folliculogenesis Menstrual synchrony Premenstrual syndrome / Premenstrual dysphoric disorder / Menstrual psychosis Sexual activity In culture and religion Chhaupadi Feminine hygiene Sanitary napkin Tampon Menstrual cup Menstrual Hygiene Day Menstrual taboo Menstruation hut Niddah
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Factor Xiii Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : D68.2 ICD - 9-CM : 286.3 OMIM : 134570 134580 MeSH : D005177 DiseasesDB : 31412 SNOMED CT : 18604004 External resources eMedicine : ped/3040 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Hematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Hemobilia Hemoperitoneum Hematocele Hematosalpinx joint Hemarthrosis
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Paraneoplastic Cerebellar Degeneration
Wikipedia
Paraneoplastic cerebellar degeneration Specialty Neurology Paraneoplastic cerebellar degeneration (PCD) is a paraneoplastic syndrome associated with a broad variety of tumors including lung cancer , ovarian cancer , breast cancer , Hodgkin’s lymphoma and others. ... As is the case with other paraneoplastic syndromes , [1] PCD is believed to be due to an autoimmune reaction targeted against components of the central nervous system , mostly to Purkinje cells . [2] [3] [4] [5] It is thought to be triggered when tumor cells (in PCD, most commonly ovarian or breast cancer [1] [6] ) ectopically express proteins normally expressed in the cerebellum. ... There may be a role for high-dose gammaglobulin therapy in the treatment PCD, but due to the rare occurrence of this disease, controlled trials of this therapy may be difficult. [1] References [ edit ] ^ a b c d e Paraneoplastic Syndromes, 2011, Darnell & Posner ^ a b S. ... External links [ edit ] Classification D ICD - 10 : G13.0 ICD - 9-CM : 334.9 MeSH : D020362 DiseasesDB : 33977 External resources eMedicine : neuro/299 v t e Paraneoplastic syndromes Endocrine Hypercalcaemia SIADH Zollinger–Ellison syndrome Cushing's syndrome Hematological Multicentric reticulohistiocytosis Nonbacterial thrombotic endocarditis Neurological Paraneoplastic cerebellar degeneration Encephalomyelitis Limbic encephalitis Opsoclonus Polymyositis Transverse myelitis Lambert–Eaton myasthenic syndrome Anti-NMDA receptor encephalitis Musculoskeletal Dermatomyositis Hypertrophic osteopathy Mucocutaneous reactive erythema Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe palms Other Febrile neutrophilic dermatosis Pyoderma gangrenosum Paraneoplastic pemphigus
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Suspension Trauma
Wikipedia
"orthostatic shock while suspended") , also known as harness hang syndrome ( HHS ), suspension syndrome , or orthostatic intolerance , is an effect which occurs when the human body is held upright without any movement for a period of time. ... Fainting while remaining vertical increases the risk of death from cerebral hypoxia . [1] Since there is no evidence that these effects are specifically due to trauma, or caused by the harness itself, climbing medicine authorities have argued against the terminology of suspension trauma or harness hang syndrome and instead termed this simply "suspension syndrome". [2] People at risk of suspension trauma include people using industrial harnesses ( fall arrest systems, abseiling systems, confined space systems), people using harnesses for sporting purposes ( caving , climbing , parachuting , etc.), stunt performers, circus performers, and occupations that require the use of harnesses and suspension systems in general. ... Specific recommendations for individuals doing technical ropework are to avoid exhausting themselves so much that they end up without the energy to keep moving, and making sure everyone in a group is trained in single rope rescue techniques, especially the "single rope pickoff" , a rather difficult technical maneuver that must be practiced frequently for smooth performance. See also [ edit ] Reflow syndrome , which occurs when toxins that accumulated in pooled blood suddenly return to the body when the person lies down following suspension trauma Compartment syndrome , a dangerous condition that sometimes occurs with suspension trauma References [ edit ] ^ Seddon P.: Harness suspension: review and evaluation of existing information . ... External links [ edit ] Suspension Trauma Article on the Prevention and Treatment of Suspension Trauma Harness suspension: review and evaluation of existing information Harness Hang Syndrome: Fact and Fiction Will Your Safety Harness Kill You?
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Axonotmesis
Wikipedia
ISBN 0-443-08499-8 v t e Neurotrauma Traumatic brain injury Intracranial hemorrhage Intra-axial Intraparenchymal hemorrhage Intraventricular hemorrhage Extra-axial Subdural hematoma Epidural hematoma Subarachnoid hemorrhage Brain herniation Cerebral contusion Cerebral laceration Concussion Post-concussion syndrome Second-impact syndrome Dementia pugilistica Chronic traumatic encephalopathy Diffuse axonal injury Abusive head trauma Penetrating head injury Spinal cord injury Anterior spinal artery syndrome Brown-Séquard syndrome Cauda equina syndrome Central cord syndrome Paraplegia Posterior cord syndrome Spinal cord injury without radiographic abnormality Tetraplegia (Quadriplegia) Peripheral nerves Nerve injury Peripheral nerve injury classification Wallerian degeneration Injury of accessory nerve Brachial plexus injury Traumatic neuroma
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Combined Pulmonary Fibrosis And Emphysema
Wikipedia
Combined pulmonary fibrosis and emphysema Other names CPFE Specialty Pulmonology Combined pulmonary fibrosis and emphysema ( CPFE ), describes a medical syndrome involving both pulmonary fibrosis and emphysema . [1] [2] The combination is most commonly found in male smokers. ... PMID 23362797 . ^ a b Wand, O; Kramer, MR (January 2018). "The Syndrome of Combined Pulmonary Fibrosis and Emphysema - CPFE". ... "Combined pulmonary fibrosis and emphysema syndrome: a review" . Chest . 141 (1): 222–231. doi : 10.1378/chest.11-1062 . ... External links [ edit ] Classification D ICD - 10 : J84.1 External resources Orphanet : 300564 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline This article about a medical condition affecting the respiratory system is a stub .
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Factor Vii Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : D68.2 OMIM : 227500 MeSH : D005168 External resources Orphanet : 327 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythaemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Haemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Haematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Haemoptysis Intracranial haemorrhage Hyphaema Subconjunctival haemorrhage torso Haemothorax Haemopericardium Pulmonary haematoma abdomen Gastrointestinal bleeding Haemobilia Haemoperitoneum Haematocele Haematosalpinx joint Haemarthrosis
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Chitayat Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Chitayat syndrome (CHYTS) is caused by heterozygous mutation in the ERF gene (611888) on chromosome 19q13. Description Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017). ... Balasubramanian et al. (2017) studied 5 patients from 4 families with Chitayat syndrome, including the patient originally described by Chitayat et al. (1993). ... Molecular Genetics In 5 patients from 4 families with Chitayat syndrome, including the patient originally described by Chitayat et al. (1993), Balasubramanian et al. (2017) identified heterozygosity for a recurrent missense mutation in the ERF gene (Y89C; 611888.0008).
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Riga–fede Disease
Wikipedia
Riga–Fede disease Riga-Fede disease on the lower lip. Riga–Fede disease (or syndrome ) is a rare condition in infants characterized by ulceration on the ventral surface of the tongue or on the inner surface of the lower lip. ... External links [ edit ] Classification D ICD - 10 : K14.0 v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease This article about a disease , disorder, or medical condition is a stub .
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Haemophilus Influenzae Cellulitis
Wikipedia
ISBN 0-7216-2921-0 . v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis v t e Bacterial skin disease Gram +ve Firmicutes Staphylococcus Staphylococcal scalded skin syndrome Impetigo Toxic shock syndrome Streptococcus Impetigo Cutaneous group B streptococcal infection Streptococcal intertrigo Cutaneous Streptococcus iniae infection Erysipelas / Chronic recurrent erysipelas Scarlet fever Corynebacterium Erythrasma Listeriosis Clostridium Gas gangrene Dermatitis gangrenosa Mycoplasma Erysipeloid of Rosenbach Actinobacteria Mycobacterium-related: Aquarium granuloma Borderline lepromatous leprosy Borderline leprosy Borderline tuberculoid leprosy Buruli ulcer Erythema induratum Histoid leprosy Lepromatous leprosy Leprosy Lichen scrofulosorum Lupus vulgaris Miliary tuberculosis Mycobacterium avium-intracellulare complex infection Mycobacterium haemophilum infection Mycobacterium kansasii infection Papulonecrotic tuberculid Primary inoculation tuberculosis Rapid growing mycobacterium infection Scrofuloderma Tuberculosis cutis orificialis Tuberculosis verrucosa cutis Tuberculous cellulitis Tuberculous gumma Tuberculoid leprosy Cutaneous actinomycosis Nocardiosis Cutaneous diphtheria infection Arcanobacterium haemolyticum infection Group JK corynebacterium sepsis Gram -ve Proteobacteria α: Endemic typhus Epidemic typhus Scrub typhus North Asian tick typhus Queensland tick typhus Flying squirrel typhus Trench fever Bacillary angiomatosis African tick bite fever American tick bite fever Rickettsia aeschlimannii infection Rickettsialpox Rocky Mountain spotted fever Human granulocytotropic anaplasmosis Human monocytotropic ehrlichiosis Flea-borne spotted fever Japanese spotted fever Mediterranean spotted fever Flinders Island spotted fever Verruga peruana Brill–Zinsser disease Brucellosis Cat-scratch disease Oroya fever Ehrlichiosis ewingii infection β: Gonococcemia / Gonorrhea / Primary gonococcal dermatitis Melioidosis Cutaneous Pasteurella hemolytica infection Meningococcemia Glanders Chromobacteriosis infection γ: Pasteurellosis Tularemia Vibrio vulnificus Rhinoscleroma Haemophilus influenzae cellulitis Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome Q fever Salmonellosis Shigellosis Plague Granuloma inguinale Chancroid Aeromonas infection ε: Helicobacter cellulitis Other Syphilid Syphilis Chancre Yaws Pinta Bejel Chlamydia infection Leptospirosis Rat-bite fever Lyme disease Lymphogranuloma venereum Unspecified pathogen Abscess Periapical abscess Boil/furuncle Hospital furunculosis Carbuncle Cellulitis Paronychia / Pyogenic paronychia Perianal cellulitis Acute lymphadenitis Pilonidal cyst Pyoderma Folliculitis Superficial pustular folliculitis Sycosis vulgaris Pimple Ecthyma Pitted keratolysis Trichomycosis axillaris Necrotizing fascitis Gangrene Chronic undermining burrowing ulcers Fournier gangrene Elephantiasis nostras Blistering distal dactylitis Botryomycosis Malakoplakia Gram-negative folliculitis Gram-negative toe web infection Pyomyositis Blastomycosis-like pyoderma Bullous impetigo Chronic lymphangitis Recurrent toxin-mediated perineal erythema Tick-borne lymphadenopathy Tropical ulcer This infection-related cutaneous condition article is a stub .
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Hemangioblastoma
Wikipedia
Sometimes, these tumors occur in other sites such as the spinal cord and retina . [1] They may be associated with other diseases such as polycythemia (increased blood cell count), pancreatic cysts and Von Hippel–Lindau syndrome (VHL syndrome). Hemangioblastomas are most commonly composed of stromal cells in small blood vessels and usually occur in the cerebellum , brainstem or spinal cord. They are classed as grade I tumors under the World Health Organization 's classification system. [2] Contents 1 Presentation 1.1 Complications 2 Pathogenesis 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 Additional images 8 See also 9 References 10 External links Presentation [ edit ] Complications [ edit ] Hemangioblastomas can cause an abnormally high number of red blood cells in the bloodstream due to ectopic production of the hormone erythropoietin as a paraneoplastic syndrome . [3] Pathogenesis [ edit ] Hemangioblastomas are composed of endothelial cells , pericytes and stromal cells. In VHL syndrome the von Hippel-Lindau protein (pVHL) is dysfunctional, usually due to mutation and/or gene silencing. ... Sometimes multiple lesions are present. [1] Treatment [ edit ] The treatment for hemangioblastoma is surgical excision of the tumor. [5] Although usually straightforward to carry out, recurrence of the tumor or more tumors at a different site develop in approximately 20% of patients. [1] Gamma Knife Radiosurgery as well as LINAC have also been employed to successfully treat recurrence and control tumor growth of cerebellar hemangioblastomas. [6] Prognosis [ edit ] The outcome for hemangioblastoma is very good, if surgical extraction of the tumor can be achieved; excision is possible in most cases and permanent neurologic deficit is uncommon and can be avoided altogether if the tumor is diagnosed and treated early. Persons with VHL syndrome have a bleaker prognosis than those who have sporadic tumors since those with VHL syndrome usually have more than one lesion. [2] Epidemiology [ edit ] Hemangioblastoma are among the rarest central nervous system tumors, accounting for less than 2%. Hemangioblastomas usually occur in adults, yet tumors may appear in VHL syndrome at much younger ages. Men and women are approximately at the same risk.HIF1A, NDRG1, BMPR1A, PTEN, VEGFA, VHL, CXCR4, EPO, MKI67, EGFR, MIB1, SST, NES, SESN2, AQP1, PLAGL1, PGF, MME, PROM1, FLT1, SETD2, TNFSF15, ADRB2, IKZF1, TWIST1, TP53, TNF, TGFA, VTN, RWDD3, RNF139, SMUG1, ELOA, HILPDA, ANGPTL4, DLL4, ACKR3, RHBDF2, PPP1R2C, MINDY4, TCHP, ZACN, MIR196A2, MIR200A, TEK, SDHB, ELOB, HTC2, ANGPT1, ANGPT2, BAX, CCND1, VPS51, CA9, CLU, DSC3, EPAS1, EPHB4, FGF1, FGFR3, FH, HOXA9, ITGA2B, SSTR1, KDR, LGALS3, MMP1, MMP3, SERPINE1, PLAU, PTPRC, RAG1, RBL1, CXCL12, ALB, SLC2A1, SMN1, SMN2, MIR200B
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Salivary Gland Fistula
Wikipedia
Diseases of the Salivary Glands Including Dry Mouth and Sjögren's Syndrome: Diagnosis and Treatment . Springer Science & Business Media. pp. 152–153. ISBN 978-3-642-80274-4 . v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
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Lymphoproliferative Syndrome 3
Omim
A number sign (#) is used with this entry because of evidence that lymphoproliferative syndrome-3 (LPFS3) is caused by homozygous mutation in the CD70 gene (602840) on chromosome 19p13. Description Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. ... For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). Clinical Features Izawa et al. (2017) reported an 8-year-old boy, born of consanguineous Egyptian parents, with recurrent EBV-induced B-cell proliferative disorders, including Hodgkin lymphoma. ... She had severe varicella infection at age 5 years and developed an inflammatory syndrome with arthritis, aphthous ulcers, and posterior uveitis, as well as recurrent upper respiratory tract infections.
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Pmm2 Deficiency
Wikipedia
PMM2 deficiency Other names Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency [1] ,Jaeken Syndrome, PMM2-CDG , CDG1a PMM2 protein PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2 . ... Patients do not respond well to reflex tests. [10] Strabismus - Crossed eyes, mainly presented as infantile Esotropia [11] Nystagmus - Involuntary eye movements caused by Cerebellar ataxia . [11] [12] Hypotonia - Weak muscle tone, commonly known as floppy baby syndrome. [13] Diagnosis [ edit ] PMM2 deficiency is diagnosed through genetic sequencing. ... "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics . 16 (1): 88–92. doi : 10.1038/ng0597-88 . ... "Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy" . ... "A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)" .
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Refractory Cytopenia Of Childhood
Wikipedia
Refractory cytopenia of childhood Other names RCC Refractory cytopenia of childhood is a subgroup of myelodysplastic syndrome (MDS), having been added to the World Health Organization classification in 2008. ... "Classification of childhood aplastic anemia and myelodysplastic syndrome" . Hematology . 2011 : 84–9. doi : 10.1182/asheducation-2011.1.84 . ... M.; Baumann, I (2008). "Myelodysplastic syndrome in children and adolescents". Seminars in Hematology . 45 (1): 60–70. doi : 10.1053/j.seminhematol.2007.10.006 .VEGFA, MTOR, TFE3, CD274, VHL, IL2, HIF1A, KDR, CA9, IL6, TP53, LARP6, SMUG1, MET, CSF2, CTLA4, PDCD1, PAX2, PBRM1, HLA-A, AXL, PAX8, FOLH1, ALK, HLA-C, AR, DNMT1, GPT, EIF4EBP1, ASPSCR1, PTEN, IL1B, IGF1, FHIT, PRCC, ABCG2, EZH2, CD82, IFNA1, PROM1, YBX1, TSC2, MIR23A, CXCR4, TFEB, SETD2, MIR106B, CD38, IFNA13, FLCN, DAB2IP, SDHB, SDHC, PARP1, KIT, SFPQ, BHD, TRAM1, SMG1, DKK1, SIRT1, TBC1D9, CHEK2, GPR182, ARC, AMACR, RASSF1, RNF139, TMED7-TICAM2, FSTL1, LRRFIP1, XRCC1, BSND, MTCO2P12, BAP1, DEGS1, EIF3D, TNFSF13, TNFSF12, SPHK1, CLDN8, CLDN1, ADIPOQ, TBC1D8, NCR1, SPATA2, PTPRU, NAMPT, AKR1A1, HOXB13, QPCT, ANP32B, TNFSF13B, NES, IL24, SNHG1, CHCHD2, INTS1, NCR3, C19orf48, UBASH3B, EGLN2, MAL2, SLCO6A1, GATA5, UBE2F, ABCA13, CBLL2, GLIS3, SKA1, TICAM2, JADE1, GSTK1, MIR10A, MIR195, MIR198, MIR205, MIR21, MIR210, MIR29B1, MIR29B2, TNFSF12-TNFSF13, CD24, COL18A1, ADIPOR2, DKK3, WWOX, DKK2, PYCARD, RAB4B-EGLN2, UHRF1, NOX4, TMED7, ADIPOR1, APH1A, TNFRSF12A, RPL17-C18orf32, MED15, CDHR5, MUL1, EGLN1, TET2, SAMD9, ANKHD1, CEP55, SAGE1, PNRC2, SULF2, SUSD2, ERAP2, BIRC7, ACVRL1, SDHD, VCL, ETFA, COL11A1, COL11A2, CRABP1, CRABP2, CRP, CTNNB1, CTSK, DAPK1, DVL2, EPAS1, ERBB2, FGB, COL5A1, FGFR2, FH, FLT1, FN1, GH1, GRP, HOXA11, ICAM1, IFNB1, IFNG, IGF1R, COL6A3, ABCC2, IL4, C1QBP, AHR, AKT1, ALB, ANXA6, ARSA, AVP, B2M, BCL2, BGLAP, BNIP3, BSG, CALR, CEBPB, CASP2, CASP8, CBS, CCK, CD68, CD70, CDK1, CDH3, CDH15, CDH16, CDKN2B, IGFBP7, CXCL8, UGT1A, RPL17, PRKCZ, MAPK3, MAP2K7, PSEN1, PTGS2, PTPRG, RAP1GAP, RARB, RBP1, RBP2, REG1A, SELP, POLR2A, SH3GL2, SNCA, SOX2, SST, STAT3, HNF1B, TRBV20OR9-2, TERT, TGFB1, TNF, TSC1, POMC, PKM, CXCR2, MYC, ITGA5, KLRC1, KRAS, KRT7, LAMP2, LGALS3, EPCAM, MDM2, KMT2A, COX2, MUC1, NEDD8, PITX1, CCN3, P2RY1, PRDX1, SERPINE1, PRKN, PCNA, PDGFRB, ENPP2, PFN1, ABCB1, SLC25A3, LNCARSR
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Modifier, X-Linked, For Neurofunctional Defects
Omim
Clinical Features Several disorders affecting speech, learning and behavior have a 3:1 or greater male:female ratio. Tourette syndrome (137580), primarily caused by an autosomal gene, is such a condition. ... The patient's 9-year-old brother, who carried diagnoses of Tourette syndrome and attention deficit-hyperactivity disorder with mild cognitive defects, also carried the deletion. ... Neuro - Speech, learning and behavior modifier - Tourette syndrome modifier Inheritance - X-linked ▲ Close
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Hypogonadism, Male
Omim
Description Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. ... In all respects except the parental consanguinity suggesting recessive inheritance, the disorder clinically resembled Reifenstein syndrome (312300). Cytogenetics In a Caucasian male with hypogonadism and testicular atrophy, Quintero-Rivera et al. (2007) identified an apparently balanced translocation t(8;10)(p11.2;p13), which was also found in his mother and maternal grandmother.NR0B1, KISS1R, SRY, TAC3, NSMF, CTNS, TACR3, WFS1, ALMS1, FGF17, AIP, HS6ST1, DHH, SOX3, CHD7, WDR11, PROK2, CDH23, SPRY4, AIRE, PROKR2, SOX9, CISD2, MEN1, FGFR1, DUSP6, FSHB, NR5A1, KISS1, ANOS1, FGF8, EIF2S3, GNRHR, GNRH1, AR, AMH, G6PC3, CYP2R1, RXFP2, SOHLH1, L3MBTL2, PCSK1, BOLL, SPAG5, INSL3, LEP, LEPR, LHB, LHCGR, B4GALNT1
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Megacystis (Fetal)
Wikipedia
Contents 1 Cause 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] Megacystis is associated with Berdon syndrome (MMIH syndrome). [2] Diagnosis [ edit ] Ultrasound scan of a fetus with megacystis Fetal megacystis is diagnosed during pregnancy by ultrasound imaging procedures. ... Treatment [ edit ] Megacystis can often be treated pharmacologically or with biofeedback to improve bladder functioning, if the child survives past early infancy. [2] See also [ edit ] Berdon syndrome References [ edit ] ^ Taghavi, K.; Sharpe, C.; Stringer, M.