MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
A brother with the same partial 5p trisomy had refractory epilepsy, whereas another brother had a partial 5p monosomy and the cri du chat syndrome. Head - Frontal bossing - Flat occiput - Hypertelorism Growth - Short stature Neuro - Schizophrenia - Hallucinations - Delusions - Inappropriate emotional responses - Disordered thinking and concentration - Erratic behavior - Social and occupational deterioration Inheritance - Autosomal dominant form - most likely polygenic GU - Renal anomalies - Small phallus - Absent kidney - Partially duplicated displaced kidney Limbs - Short fourth toe proximal phalanx - Partial syndactyly of fingers and toes Lab - Partial trisomy for 5q11.2-q13.3 in dysmorphic type Ears - Protuberant ears ▲ Close
Van de Ven et al. (2013) also noted that the G119R variant had previously been reported in patients with atypical hemolytic uremia syndrome (AHUS3; 612923) (Maga et al., 2010; Fakhouri et al., 2010); however, although ARMD patients carrying the CFI G119R variant exhibited a mild subclinical decrease in renal function, there was no significant difference in renal function of ARMD patients with G119R compared to ARMD patients without G119R.
Shi et al. (2014) noted that the phenotype in these sisters was consistent with a clinical diagnosis of Gordon Holmes syndrome (GDHS; 212840). Synofzik et al. (2014) reported 4 Caucasian patients from 3 families with SCAR16.
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
Superimposed mononeuropathies may also be evident, such as a median mononeuropathy at the wrist ( carpal tunnel syndrome ). Electromyography (EMG) may show evidence of chronic denervation and reinnervation.
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. Epidemiology The prevalence worldwide is unknown, but the prevalence in the general population in Japan has recently been estimated at around 1 per million. Clinical description FAP is clinically heterogeneous, with the clinical presentation depending on the genotype and geographic origin. FAP usually presents as a length-dependent sensory polyneuropathy with autonomic disturbances.
This article may be too technical for most readers to understand . Please help improve it to make it understandable to non-experts , without removing the technical details. ( June 2009 ) ( Learn how and when to remove this template message ) Familial amyloid neuropathy Specialty Endocrinology The familial amyloid neuropathies (or familial amyloidotic neuropathies , neuropathic heredofamilial amyloidosis , familial amyloid polyneuropathy ) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. [1] [2] [3] Contents 1 Classification 2 Treatment 3 References 4 External links Classification [ edit ] The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1 , and gelsolin . [4] Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first. [5] "FAP-I" and "FAP-II" are associated with transthyretin . [1] [6] ( Senile systemic amyloidosis [abbreviated "SSA"] is also associated with transthyretin aggregation.) "FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1 . [7] "FAP-IV" is also known as " Finnish-type ", and involves gelsolin . [8] Fibrinogen , apolipoprotein A1 , and lysozyme are associated with a closely related condition, familial visceral amyloidosis . Diagnosis is confirmed by blood tests, organ biopsies, and tissue biopsies. Genetic testing can also be used to confirm a mutation in the TTR gene.
A differential diagnosis may also include Sjögren's syndrome and lymphoid interstitial pneumonia . [3] Flock worker's lung may be misdiagnosed as asthma or recurrent pneumonia . [9] Though X-rays may be abnormal, CT scans are more useful as a diagnostic tool in flock worker's lung. [5] Other diagnostic methods may include a transbronchial biopsy or wedge biopsy . [9] Prevention [ edit ] Flock worker's lung can be prevented with engineering controls that protect workers from inhaling flock. [1] Engineering controls to prevent inhalation of flock can include using guillotine cutters rather than rotary cutters, and ensuring that blades are sharp, since dull blades shear off more respirable particles.
Coup injury may be caused when, during an impact, the brain undergoes linear acceleration and deceleration forces or rotational forces , causing it to collide with the opposite side of the skull. [7] The injuries can also be caused solely by acceleration or deceleration in the absence of an impact. [7] Contrecoup injury may be produced by tensile forces . [8] These forces directly disrupt neurons , axons , other neural and meningeal structures, and blood vessels in local or diffuse patterns, typically leading to various cellular, neurochemical and metabolic effects. [7] Features [ edit ] Contrecoup, which may occur in shaken baby syndrome and vehicle accidents, can cause diffuse axonal injury . [9] In some circumstances, concussive injury can cause microvascular disruption, hemorrhage , or subdural hematoma . [7] [10] Closed head injury (coup contrecoup) can damage more than the impact sites on the brain, as axon bundles may be torn or twisted, blood vessels may rupture, and elevated intracranial pressure can distort the walls of the ventricles. [7] [10] [11] Diffuse axonal injury is a key pathology in concussive brain injury. [5] The visual system may be affected. [12] [13] Contrecoup contusions are particularly common in the lower part of the frontal lobes and the front part of the temporal lobes . [4] Injuries that occur in body parts other than the brain, such as the lens of the eye , [2] the lung, [14] and the skull [15] may also result from concussion.
This article incorporates text from this source, which is in the public domain . v t e HIV/AIDS in Asia Sovereign states Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor (Timor-Leste) Egypt Georgia India Indonesia Iran Iraq Israel Japan Jordan Kazakhstan North Korea South Korea Kuwait Kyrgyzstan Laos Lebanon Malaysia Maldives Mongolia Myanmar Nepal Oman Pakistan Philippines Qatar Russia Saudi Arabia Singapore Sri Lanka Syria Tajikistan Thailand Turkey Turkmenistan United Arab Emirates Uzbekistan Vietnam Yemen States with limited recognition Abkhazia Artsakh Northern Cyprus Palestine South Ossetia Taiwan Dependencies and other territories British Indian Ocean Territory Christmas Island Cocos (Keeling) Islands Hong Kong Macau Book Category Asia portal v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
National Institutes of Health and Sergey Nejentsev at the University of Cambridge , UK simultaneously described a mutation causing this condition which they called Activated PI3K Delta Syndrome (APDS). [1] [2] Contents 1 Signs and symptoms 2 Genetics 2.1 Inheritance 3 Diagnosis 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] Figure 2: Proposed model for the effects of activating substitutions (red asterisk) in p110δ [1] Clinically, PASLI disease is characterized by recurrent sinopulmonary infections that can lead to progressive airway damage.
The patient went on to develop disseminated intravascular coagulopathy and acute respiratory distress syndrome. After a stay in Intensive Care undergoing broad-spectrum antibiotic therapy, the patient was eventually discharged in stable condition. [9] Patients diagnosed with Emphysematous Cystitis are also commonly diagnosed with urinary tract infections and sepsis. [2] Cases of Emphysematous Cystitis in a clinical study have shown to progress quickly and are life-threatening and sometimes fatal due to inflammation caused by gas forming organisms. [1] Diagnosis [ edit ] Due to the atypical presentation and rarity of the infection, it takes a physician longer to diagnose than more common types of bladder infections.
See also [ edit ] HIV/AIDS in Africa HIV/AIDS in Asia HIV/AIDS in Europe HIV/AIDS in South America List of countries by HIV/AIDS adult prevalence rate v t e HIV/AIDS in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region This list is incomplete ; you can help by adding missing items with reliable sources .
In the third pedigree, affected individuals were referred for possible Russell-Silver syndrome (see 180860) but were diagnosed with familial glucocorticoid deficiency (FGD; see 202200) on the basis of the development of increased pigmentation and subsequent biochemical investigations.
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.