Associated with a mucocutaneous lymph node syndrome. Diagnosis requires fever lasting five days or more with at least four out of five criteria: Bilateral conjunctival injection Injected or fissured lips, injected pharynx, or strawberry tongue Erythema of palms/soles, edema of hands/feet, periungual desquamation Polymorphous rash Cervical lymphadenopathy (at least one node > 1.5 cm) Isolated cerebral vasculitis . ... Nasal or oral inflammation (oral ulcers or purulent/bloody nasal discharge, may be painful) Abnormal CXR showing nodules, infiltrates, cavities Microscopic hematuria or RBC casts Vessel biopsy shows granulomatous inflammation Peak incidence: ages 40–60, males > females Eosinophilic granulomatosis with polyangiitis ( EGPA ; formerly known as Churg-Strauss syndrome). Affects medium and small vessels with vascular and extravascular granulomatosis . ... If the purpura is in combination with systemic organ involvement, it is most likely to be Henoch–Schönlein purpura or microscopic polyangiitis. Pulmonary-renal syndrome . Individuals who are coughing up blood and have kidney involvement are likely to have granulomatosis with polyangiitis , microscopic polyangiitis , or anti-GBM disease ( Goodpasture syndrome ). ... External links [ edit ] Classification D ICD - 10 : M30 - M31 ICD - 9-CM : 446 MeSH : D014657 External resources Orphanet : 52759 v t e Systemic vasculitis Large vessel Takayasu's arteritis Giant cell arteritis Medium vessel Polyarteritis nodosa Kawasaki disease Thromboangiitis obliterans Small vessel Pauci-immune c-ANCA Granulomatosis with polyangiitis p-ANCA Eosinophilic granulomatosis with polyangiitis Microscopic polyangiitis Type III hypersensitivity Cutaneous small-vessel vasculitis IgA vasculitis Ungrouped Acute hemorrhagic edema of infancy Cryoglobulinemic vasculitis Bullous small vessel vasculitis Cutaneous small-vessel vasculitis Other Goodpasture syndrome Sneddon's syndrome
Pneumoconiosis in combination with multiple pulmonary rheumatoid nodules in rheumatoid arthritis patients is known as Caplan's syndrome . [6] Epidemiology [ edit ] In 2013 pneumoconiosis resulted in 260,001 deaths up from 251,000 deaths in 1990. [5] Of these deaths 46,000 were due to silicosis , 24,000 due to asbestosis and 25,000 due to coal workers pneumoconiosis . [5] Popular culture [ edit ] This section appears to contain trivial, minor, or unrelated references to popular culture . ... TM/88/17. 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 Occupational safety and health Occupational diseases and injuries Acrodynia Asbestosis Asthma Barotrauma Berylliosis Brucellosis Byssinosis ("brown lung") Chalicosis Chimney sweeps' carcinoma Chronic solvent-induced encephalopathy Coalworker's pneumoconiosis ("black lung") Concussions in sport Decompression sickness De Quervain syndrome Erethism Exposure to human nail dust Farmer's lung Fiddler's neck Flock worker's lung Glassblower's cataract Golfer's elbow Hearing loss Hospital-acquired infection Indium lung Laboratory animal allergy Lead poisoning Mesothelioma Metal fume fever Mule spinners' cancer Noise-induced hearing loss Phossy jaw Pneumoconiosis Radium jaw Repetitive strain injury Silicosis Silo-filler's disease Sports injury Surfer's ear Tennis elbow Tinnitus Writer's cramp Occupational hygiene Occupational hazard Biological hazard Chemical hazard Physical hazard Psychosocial hazard Hierarchy of hazard controls Prevention through design Exposure assessment Occupational exposure limit Occupational epidemiology Workplace health surveillance Professions Environmental health Industrial engineering Occupational health nursing Occupational health psychology Occupational medicine Occupational therapist Safety engineering Agencies and organizations Canadian Centre for Occupational Health and Safety European Agency for Safety and Health at Work UK Health and Safety Executive International Labour Organization US National Institute for Occupational Safety and Health US Occupational Safety and Health Administration National Institute for Safety and Health at Work (Spain) World Health Organization Standards Bangladesh Accord ISO 45001 Occupational Safety and Health Convention, 1981 Worker Protection Standard (US) Working Environment Convention, 1977 Safety Checklist Code of practice Contingency plan Diving safety Emergency procedure Emergency evacuation Hazard Hierarchy of hazard controls Hazard elimination Administrative controls Engineering controls Hazard substitution Personal protective equipment Job safety analysis Lockout-tagout Permit To Work Operations manual Redundancy (engineering) Risk assessment Safety culture Standard operating procedure Legislation Diving regulations Occupational Safety and Health Act (United States) See also Environment, health and safety Environmental toxicology Ergonomics Health physics Indoor air quality International Chemical Safety Card National Day of Mourning (Canadian observance) Process safety management Public health Risk management Safety data sheet Toxic tort Workers' compensation Category Occupational diseases Journals Organizations Commons Glossary Authority control GND : 4077858-7 NDL : 00562830
Cause [ edit ] Further information: Primary ciliary dyskinesia Axial CT image showing dextrocardia and situs inversus in a patient with Kartagener syndrome . Axial CT image showing situs inversus (liver and IVC on the left, spleen and aorta on the right) in a patient with Kartagener syndrome. ... If they do, they are said to have Kartagener syndrome , characterized by the triad of situs inversus, chronic sinusitis , and bronchiectasis . Cilia are also responsible for clearing mucus from the lung, and the dysfunction causes increased susceptibility to lung infections. Kartagener syndrome can also manifest with male infertility as functional cilia are required for proper sperm flagella function. ... Situs inversus of the optic disc may occur unilaterally or bilaterally, associated with reduced binocularity and stereoacuity resembling monofixation syndrome . It is characterized by emergence of the retinal vessels in an anomalous direction (from the nasal rather than the temporal aspect) with dysversion (tilt) of the optic disc. [7] Diagnosis [ edit ] Diagnosis of situs inversus can be made using imaging techniques such as x-ray , ultrasound , CT scan , and magnetic resonance imaging (MRI). [8] Treatment [ edit ] No treatment is needed if the subject is healthy. ... "Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome" Indian J Ophthalmol. 2010 May-Jun; 58(3): 241–242. doi : 10.4103/0301-4738.62654 PMC 2886260 ^ Fulcher, Ann S.; Turner, Mary Ann.
It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people.
Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.
Etiology Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.
Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.
Dicarboxylic aminoaciduria Other names Glutamate-aspartate transport defect [1] Specialty Endocrinology Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births [2] ) which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids . [3] Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons , intestine , kidney , lung , and heart . [3] [4] EAAT3 is part of a family of high affinity glutamate transporters which transport both glutamate and aspartate across the plasma membrane. Contents 1 Symptoms 2 Cause 2.1 Mutations 2.2 Metabolism 2.2.1 Examples 3 Diagnosis 4 Treatment 5 References 6 External links Symptoms [ edit ] Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney . [3] This affects a diseased individual's amino acid pool, as they will have to spend additional resources to replenish the amino acids which would have otherwise been present. Additionally, glutamate transporters are responsible for the synaptic release of the glutamate ( neurotransmitter ) within the interneuronal synaptic cleft. This hindrance of functionality in individuals with dicarboxylic aminoaciduria may be related to growth retardation, intellectual disability , and a tendency toward fasting hypoglycemia and ketoacidosis . [3] [5] Dicarboxylic aminoaciduria is diagnosed by finding the increased presence of glutamate and aspartate in the urine. [3] Cause [ edit ] Basic transport of glutamate in the synapse as well as the neuroglia .
A number sign (#) is used with this entry because of evidence that dicarboxylic aminoaciduria (DBCXA) is caused by homozygous mutation in the SLC1A1 gene (133550) on chromosome 9p24. Clinical Features Teijema et al. (1974) described a female child with a defect in renal and probably intestinal transport of 2 acidic amino acids, glutamic and aspartic acids. The child was mentally retarded and also showed moderate hyperprolinemia and hypoglycemia. Melancon et al. (1977) reported a 38-month-old male infant with large amounts of the dicarboxylic amino acids, aspartic and glutamic, in the urine without generalized aminoaciduria and without neurologic and developmental abnormalities. The patient was found soon after birth by routine screening. Intestinal transport and in vitro oxidation of dicarboxylic amino acids suggested that the basic defect was selective, one of renal conservation.
This condition must be distinguished from myotonia congenita and from the Debre-Semelaigne syndrome of congenital hypothyroidism. Poch et al. (1971) described a well-documented family with male-to-male transmission.
To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IId (CDG IId, CDG2D) is caused by homozygous mutation in the beta-1,4-galactosyltransferase gene (B4GALT1; 137060) on chromosome 9p21. Description Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065). Clinical Features The clinical phenotype of all CDGs is dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities presenting as thrombosis, bleeding, or stroke-like episodes (Jaeken et al., 1980).
A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands.
With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. ... See also Miller-Dieker lissencephaly syndrome (MDLS; 247200), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (605066) genes. ... On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3-epsilon in cortical development, Cardoso et al. (2003) suggested that deletion of 1 or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with Miller-Dieker syndrome. Mei et al. (2008) identified mutations in the LIS1 gene in 20 (44%) of 45 patients with isolated lissencephaly showing a posterior to anterior gradient.
A number sign (#) is used with this entry because of evidence that band heterotopia (BH) is caused by homozygous or compound heterozygous mutation in the EML1 gene (602033) on chromosome 14q32. Clinical Features Kielar et al. (2014) reported a French family in which 3 brothers had severe developmental delay with intellectual disability. Two of the boys had refractory epilepsy, whereas the third boy had no history of seizures by age 8 years. More variable features included hypotonia, mild spasticity, sleep disturbances, and behavioral problems. Kielar et al. (2014) also reported an unrelated boy, born of consanguineous Moroccan parents, with macrocephaly, congenital hydrocephalus, severe psychomotor delay, and seizures.
A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.
Influenza caused by viruses adapted to birds For the H5N1 subtype of Avian influenza, see Influenza A virus subtype H5N1 . Influenza (Flu) Types Avian A/H5N1 subtype Canine Equine Swine A/H1N1 subtype Vaccines 2009 pandemic Pandemrix Live attenuated Seasonal flu vaccine brands Treatment Amantadine Baloxavir marboxil Laninamivir Oseltamivir Peramivir Rimantadine Umifenovir Zanamivir Pandemics 1918 Spanish flu 1957 Asian flu 1968–1969 Hong Kong flu 2009 swine flu Outbreaks 1976 swine flu 2006 H5N1 India 2007 Australian equine 2007 Bernard Matthews H5N1 2008 West Bengal 2015 United States H5N2 outbreak See also Flu season Influenza evolution Influenza research Influenza-like illness Vaccine reformulations v t e Avian influenza , known informally as avian flu or bird flu , is a variety of influenza caused by viruses adapted to birds . [1] [2] [3] [4] [5] [6] [7] The type with the greatest risk is highly pathogenic avian influenza ( HPAI ). Bird flu is similar to swine flu , dog flu , horse flu and human flu as an illness caused by strains of influenza viruses that have adapted to a specific host. Out of the three types of influenza viruses ( A , B , and C ), influenza A virus is a zoonotic infection with a natural reservoir almost entirely in birds. [8] Avian influenza, for most purposes, refers to the influenza A virus. Though influenza A is adapted to birds, it can also stably adapt and sustain person-to-person transmission. [8] Recent influenza research into the genes of the Spanish flu virus shows it to have genes adapted from both human and avian strains.
The affected phenotype in each family conformed both to organophosphorous (OP) compound-induced delayed neuropathy (OPIDN) and to Troyer syndrome (275900), an autosomal recessive hereditary spastic paraplegia associated with distal muscle wasting. However, additional neurologic and systemic abnormalities seen in Troyer syndrome, including delayed milestone acquisition, skeletal abnormalities, and cerebellar, extrapyramidal, and cognitive impairment, were not observed.
Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation.
Clinical Features Fryns et al. (1988) described an apparently new form of mesomelia in father and daughter. Other than hypoplasia of the ulna with severe radial bowing, there were no other abnormalities in the skeleton; specifically, the tibiae and fibulae were completely normal. The father was 179 cm tall, with an arm span of 144 cm. At age 6 months, the daughter was at the fifth percentile for length. The father and mother of the father were 47 and 45 years old, respectively, at the time of his birth. Megarbane and Ghanem (2005) reported a Lebanese father and son with isolated upper limb mesomelic dysplasia and normal stature.
It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay.
Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger.
Clinical Features An historically notable example is the Scipion family in which the malformation was transmitted for over two thousand years (Manoiloff, 1931). The thumb is replaced by one or two triphalangeal digits, which may or may not be opposable (Swanson and Brown, 1962). The feet, in some cases, show preaxial polydactyly of the 1st or 2nd toes (Manoiloff, 1931; James and Lamb, 1963). A constant radiologic finding is distal epiphysis for the metacarpal of the accessory digits (Swanson and Brown, 1962). Limbs - Preaxial polydactyly - Thumb replaced by one or two triphalangeal digits - Occasionl polydactyly of 1st or 2nd toes Radiology - Distal epiphyses for metacarpals of accessory digits Inheritance - Autosomal dominant ▲ Close
In males the spectrum is broad, ranging from severe (intellectual disability and MICPCH, or early-infantile epileptic encephalopathy [Ohtahara syndrome, West syndrome, or early myoclonic epilepsy]) to mild (XLID ± nystagmus and additional clinical features) [Moog et al 2015]. ... Neurologic features include early and intractable seizures (Ohtahara syndrome [Saitsu et al 2012], West syndrome [Takanashi et al 2012], myoclonic epilepsy [Nakamura et al 2014]), burst suppression and spasms [Moog et al 2015], and hyperkinesia [Rama Devi et al 2019]. ... In females heterozygous for a pathogenic hypomorphic CASK variant penetrance is incomplete with high clinical variability. Nomenclature An FG syndrome (FGS)-like phenotype has been suggested as a distinct CASK -related phenotype based on findings in affected males from two families [Piluso et al 2009, Dunn et al 2017]. ... X-Linked Intellectual Disability (XLID) ± Nystagmus XLID with nystagmus may be seen in the X-linked disorder Allan-Herndon-Dudley syndrome caused by hemizygous pathogenic variants in SLC16A2 . ... XLID without nystagmus has a broad differential diagnosis as a multitude of genes are known to cause nonsyndromic and syndromic XLID (see OMIM Phenotypic Series: Nonsyndromic XLID, and Syndromic XLID).