Palpation Thyroiditis
Wikipedia
.), Lippincott Williams & Wilkins, p. 461, ISBN 978-0-7817-1750-2 v t e Thyroid disease Hypothyroidism Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Myxedema coma Euthyroid sick syndrome Signs and symptoms Queen Anne's sign Woltman sign Thyroid dyshormonogenesis Pickardt syndrome Hyperthyroidism Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Thyroid storm Graves' disease Signs and symptoms Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign lid lag Griffith's sign Möbius sign Pretibial myxedema Graves' ophthalmopathy Thyroiditis Acute infectious Subacute De Quervain's Subacute lymphocytic Palpation Autoimmune /chronic Hashimoto's Postpartum Riedel's Enlargement Goitre Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule Colloid nodule This article about an endocrine, nutritional, or metabolic disease is a stub .
Prurigo
Wikipedia
Chronic prurigo References [ edit ] External links [ edit ] Classification D ICD - 10 : L28.1 - L28.2 ICD - 9-CM : 698.2 - 698.3 MeSH : D011536 DiseasesDB : 31662 v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji This dermatology article is a stub .
Vibratory Angioedema
Wikipedia
ISBN 978-1-4160-2999-1 . v t e Urticaria and erythema Urticaria ( acute / chronic ) Allergic urticaria Urticarial allergic eruption Physical urticaria Cold urticaria Familial Primary cold contact urticaria Secondary cold contact urticaria Reflex cold urticaria Heat urticaria Localized heat contact urticaria Solar urticaria Dermatographic urticaria Vibratory angioedema Pressure urticaria Cholinergic urticaria Aquagenic urticaria Other urticaria Acquired C1 esterase inhibitor deficiency Adrenergic urticaria Exercise urticaria Galvanic urticaria Schnitzler syndrome Urticaria-like follicular mucinosis Angioedema Episodic angioedema with eosinophilia Hereditary angioedema Erythema Erythema multiforme / drug eruption Erythema multiforme minor Erythema multiforme major Stevens–Johnson syndrome , Toxic epidermal necrolysis panniculitis ( Erythema nodosum ) Acute generalized exanthematous pustulosis Figurate erythema Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens Other erythema Necrolytic migratory erythema Erythema toxicum Erythroderma Palmar erythema Generalized erythema This cutaneous condition article is a stub .
Related articles
Vibratory Urticaria
Gard
Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste in the mouth during episodes of skin involvement. Common triggers include mowing the lawn, riding a motorcycle, horseback riding, or mountain biking. Vibratory urticaria is caused by changes (mutations) in the ADGRE2 gene and appears to be inherited in an autosomal dominant manner.
Dermatophytid
Wikipedia
References [ edit ] The Merck Manual, Twelfth Edition, 1972, p. 1451 External links [ edit ] Classification D ICD - 10 : L30.2 v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji
Myelodysplastic–myeloproliferative Diseases
Wikipedia
External links [ edit ] http://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient Classification D MeSH : D054437 v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia This oncology article is a stub .
EZH2 ,
DIDO1 ,
SF3B1 ,
ABL1 ,
BCR ,
JAK2 ,
TET2 ,
NR4A1 ,
ASXL1 ,
NR4A3 ,
YWHAE ,
PAFAH1B1 ,
RUNX1 ,
CBL ,
GP1BA ,
FLT3 ,
RBMY2DP ,
BRCA1 ,
USB1 ,
BRCC3 ,
ETNK1 ,
SETBP1 ,
CEBPA ,
CCR7 ,
CSF3R ,
SIPA1 ,
RBMY1A1 ,
RARS1 ,
RAP1GAP ,
PTPN11 ,
PDGFRB ,
MECOM ,
NTRK1 ,
NPM1 ,
NNAT ,
NCAM1 ,
MPL ,
RBMY1D
Dysphagia Lusoria
Wikipedia
See also [ edit ] Aberrant subclavian artery Ortner's syndrome References [ edit ] ^ Asherson N (January 1979). "David Bayford. His syndrome and sign of dysphagia lusoria" .
Related articles
Dysphagia Lusoria
Orphanet
A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.
Mitochondrial Complex I Deficiency, Nuclear Type 31
Omim
One patient had brain imaging results consistent with Leigh syndrome , and another patient developed refractory seizures. ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive HEAD & NECK Ears - Sensorineural deafness Eyes - Nystagmus MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Global developmental delay - Lack of developmental progress - Neurologic deterioration - Seizures - Dysmetria - Dyskinetic movements - White matter abnormalities consistent with Leigh syndrome Peripheral Nervous System - Peripheral neuropathy LABORATORY ABNORMALITIES - Mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset in infancy - Early death may occur - Three unrelated families have been reported (last curated January 2019) MOLECULAR BASIS - Caused by mutation in the translocase of inner mitochondrial membrane domain-containing protein 1 gene (TIMMDC1, 615534.0001 ) ▲ Close
Hemochromatosis Type 3
Orphanet
Differential diagnosis Differential diagnosis includes: i) for hyperferritinemia: alcoholism, polymetabolic syndrome , inflammatory conditions; ii) for visceral iron overload: a) in younger patients: type 2 hemochromatosis (see this term) and post-transfusional iron overload in the case of hematological diseases such as thalassemia major, sickle cell disease, and rare anemias (see these terms) b) in older patients: Type 1 hemochromatosis and post-transfusional iron overload (especially myelodysplastic syndromes ).
Related articles
Hemochromatosis Type 3
Gard
Hemochromatosis type 3 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart , and pancreas . Early symptoms of hemochromatosis type 3 can include fatigue , weakness, and joint pain . Other symptoms may include abdominal pain, loss of sex drive, liver disease , diabetes , heart problems, and skin discoloration.
Hemochromatosis, Type 3
Omim
A number sign (#) is used with this entry because of evidence that hemochromatosis type 3 (HFE3) is caused by homozygous or compound heterozygous mutation in the transferrin receptor-2 gene (TFR2; 604720) on chromosome 7q22. For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200. Clinical Features Camaschella et al. (1999) described 2 iron-loaded sibs from a consanguineous Italian family. Both had a severe phenotype. The first sib presented with amenorrhea at age 31; liver biopsy and treatment were performed at age 36. In the second sib, decreased libido and impotence at age 21 were the first manifestations of the disease.
Haemochromatosis Type 3
Wikipedia
External links [ edit ] Classification D ICD - 10 : E83.1 OMIM : 604250 MeSH : C537248 External resources Orphanet : 225123 v t e Metal deficiency and toxicity disorders Iron excess: Iron overload Hemochromatosis Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis deficiency: Iron deficiency Copper excess: Copper toxicity Wilson's disease deficiency: Copper deficiency Menkes disease / Occipital horn syndrome Zinc excess: Zinc toxicity deficiency: Acrodermatitis enteropathica Other Inborn errors of metabolism This article about a disease of the blood or immune system is a stub .
Adnexal Mass
Wikipedia
National Cancer Institute document: "Dictionary of Cancer Terms" . 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 Symptoms and signs relating to the reproductive system Female Cervical motion tenderness Strawberry cervix Boggy uterus Adnexal mass Vaginal discharge Vaginal Odor Cramping Endometrium Arias-Stella's phenomenon Canga's bead symptom Male Testicular pain sudden Discharge from penis Inflammation/Redness Swollen testicles Prehn's sign
Multiple Endocrine Neoplasia, Type 1 (Men 1)
Mayo_clinic
Overview Multiple endocrine neoplasia, type 1 (MEN 1), sometimes called Wermer's syndrome , is a rare disorder that causes tumors in the endocrine glands and parts of the small intestine and stomach. ... Treatment depends on the type and stage of the tumor. Hypoglycemic syndrome . This condition results when tumors produce too much insulin (insulinomas), causing severely low levels of glucose, which can be life-threatening. Doctors usually recommend surgery and possibly removal of a portion of the pancreas. Zollinger-Ellison syndrome (ZES). ZES can result in tumors that overproduce gastric acid (gastrinomas), leading to ulcers and diarrhea.
Delayed Sleep Phase Disorder, Susceptibility To
Omim
Description Delayed sleep phase syndrome is a circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. ... Clinical Features Shibui et al. (1999) found that the melatonin rhythms in patients with delayed sleep phase syndrome are delayed compared with those in normal individuals. ... Associations Pending Confirmation For discussion of a possible association between susceptibility to delayed sleep phase syndrome and mutation in the AANAT gene on chromosome 17q25, see 600950.0001.
Strabismus, Susceptibility To
Omim
Strabismus is also a feature of several syndromes , including congenital fibrosis of extraocular muscles (see, e.g., CFEOM1; 135700), Duane retraction syndrome (126800), and chronic progressive external ophthalmoplegia with myopathy (530000). ... Richter (1968) and Friendly et al. (1973) reported a syndrome of cyclic strabismus (periodic esotrophia) in which the eyes are alternately straight for 24 hours and crossed for 24 hours.
Aeromonas Infection
Wikipedia
PMID 23098279 . 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 This infection-related cutaneous condition article is a stub .
Myelophthisic Anemia
Wikipedia
External links [ edit ] Classification D ICD - 10 : D61.9 ICD - 9-CM : 284.2 MeSH : D000750 External resources eMedicine : med/1562 Myelophthisic Anemia at eMedicine v t e Diseases of red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro- : Iron-deficiency anemia Plummer–Vinson syndrome Macro- : Megaloblastic anemia Pernicious anemia Hemolytic (mostly normo- ) Hereditary enzymopathy : Glucose-6-phosphate dehydrogenase deficiency glycolysis pyruvate kinase deficiency triosephosphate isomerase deficiency hexokinase deficiency hemoglobinopathy : Thalassemia alpha beta delta Sickle cell disease / trait Hereditary persistence of fetal hemoglobin membrane : Hereditary spherocytosis Minkowski–Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis Acquired AIHA Warm antibody autoimmune hemolytic anemia Cold agglutinin disease Donath–Landsteiner hemolytic anemia Paroxysmal cold hemoglobinuria Mixed autoimmune hemolytic anemia membrane paroxysmal nocturnal hemoglobinuria Microangiopathic hemolytic anemia Thrombotic microangiopathy Hemolytic–uremic syndrome Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly normo- ) Hereditary : Fanconi anemia Diamond–Blackfan anemia Acquired: Pure red cell aplasia Sideroblastic anemia Myelophthisic Blood tests Mean corpuscular volume normocytic microcytic macrocytic Mean corpuscular hemoglobin concentration normochromic hypochromic Other Methemoglobinemia Sulfhemoglobinemia Reticulocytopenia
Myopathy, X-Linked, With Excessive Autophagy
Wikipedia
Ann Neurol 23(3):258-265 External links [ edit ] Classification D ICD - 10 : G71.8 OMIM : 310440 MeSH : C536522 v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Symptoms and conditions relating to muscle Pain Myalgia Fibromyalgia Acute Delayed onset Inflammation Myositis Pyomyositis Destruction Muscle weakness Rhabdomyolysis Muscle atrophy / Amyotrophy Other Myositis ossificans Fibrodysplasia ossificans progressiva Compartment syndrome Anterior Diastasis of muscle Diastasis recti Muscle spasm
VMA21 ,
LAMP2 ,
VCP ,
GNE ,
ACTA1 ,
B2M ,
CASQ1 ,
CLN3 ,
EMD ,
PYGM ,
SQSTM1 ,
DNAJB6 ,
TRIM32 ,
HSPB8
Related articles
Myopathy, X-Linked, With Excessive Autophagy
Omim
A number sign (#) is used with this entry because of evidence that X-linked myopathy with excessive autophagy (MEAX) is caused by mutation in the VMA21 gene (300913) on chromosome Xq28. Description X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).
X-Linked Myopathy With Excessive Autophagy
Gard
X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk as they get older, while others require assistance in adulthood.
X-Linked Myopathy With Excessive Autophagy
Orphanet
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. Epidemiology It has been described in about fifteen families. Clinical description The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Etiology The Xq28 locus has been associated with the disease. Diagnostic methods Muscle fibres are not necrotic but they show excessive autophagic activity and exocytosis of the phagocytosed material. Genetic counseling Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. Prognosis Progression is very slow, longevity is not altered. Many patients need a wheelchair in their 6th decade of life.
Japanese Spotted Fever
Wikipedia
External links [ edit ] Classification D ICD - 10 : A77.8 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 This dermatology article is a stub .
Queensland Tick Typhus
Wikipedia
External links [ edit ] Classification D ICD - 10 : A77.3 ICD - 9-CM : 082.3 DiseasesDB : 33840 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 This infection-related cutaneous condition article is a stub .
North Asian Tick Typhus
Wikipedia
External links [ edit ] Classification D ICD - 10 : A77.2 ICD - 9-CM : 082.2 DiseasesDB : 33146 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 This dermatology article is a stub .
Spotted Fever
Wikipedia
External links [ edit ] Classification D ICD - 10 : A77 ICD - 9-CM : 082.0 MeSH : D000073605 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 This infectious disease article is a stub .
Pneumatocele
Wikipedia
A pneumatocele is a cavity in the lung parenchyma filled with air that may result from pulmonary trauma during mechanical ventilation . [1] Gas-filled, or air-filled lesions in bone are known as pneumocysts . [2] When a pneumocyst is found in a bone it is called an intraosseous pneumocyst , or a vertebral pneumocyst when found in a vertebra . [3] Contents 1 Cause 2 Diagnosis 3 Management and treatment 4 References 5 Further reading Cause [ edit ] A pneumatocele results when a lung laceration , a cut or tear in the lung tissue, fills with air. [4] A rupture of a small airway creates the air-filled cavity. [1] Pulmonary lacerations that fill with blood are called pulmonary hematomas . [4] In some cases, both pneumatoceles and hematomas exist in the same injured lung. [5] A pneumatocele can become enlarged, for example when the patient is mechanically ventilated or has acute respiratory distress syndrome , in which case it may not go away for months. [5] Intraosseous pneumatocysts in the bone are rare and of unclear origin. They are benign and usually without symptoms . [3] They are also found around a sacroiliac joint, and there has been one reported case of an acetabular pneumocyst. [6] Diagnosis [ edit ] Diagnosis can be made using chest X-ray ; the lesion shows up as a small, round area filled with air. [1] Computed tomography can give a more detailed understanding of the lesion. [1] Differential diagnoses – other conditions that could cause similar symptoms as pneumatocele include lung cancer , tuberculosis , [7] and a lung abscess [1] in the setting of hyper IgE syndrome (aka Job's syndrome ) or on its own, often caused by Staphylococcus aureus infection during cystic fibrosis .