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Multisystem syndrome
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Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease.
5p
vigojek
02-02-2024
3
1
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Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive–compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features.
4p
vitiki
30-01-2024
4
2
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The current coronavirus disease pandemic has brought recognition of multisystem inflammatory syndrome in adults as a de novo entity, temporally associated with severe acute respiratory syndrome coronavirus 2 viral infection in adults. Hypothesis about its true pathophysiology remains controversial.
20p
vitiki
30-01-2024
4
2
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Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism.
4p
viintuit
26-09-2023
6
0
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Immunoglobulin G4 related-disease (IgG4-RD) is a multisystemic immune-mediated fibroinflammatory disease, with a strong predilection for salivary and lacrimal glands, pancreas, biliary tree, lungs, kidneys, aorta, and retroperitoneum. In the case of pancreatic involvement, it manifests as autoimmune pancreatitis.
5p
viintuit
26-09-2023
2
0
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Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)—resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows an autosomal pattern of inheritance.
5p
vigamora
23-05-2023
7
2
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Systemic sclerosis is a multisystemic character autoimmune disease. It is characterized by vascular dysfunction and progressive fibrosis affecting mainly the skin but also different internal organs. All heart structures are commonly affected, including the pericardium, myocardium, and conduction system.
5p
vigamora
23-05-2023
6
3
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Hemophagocytic lymphohistiocytosis is a life-threatening disease heralded by fever, cytopenia, hepatosplenomegaly, and multisystem organ failure. Its association with genetic mutations, infections, autoimmune disorders, and malignancies is widely reported.
7p
videadpool
05-05-2023
5
2
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Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defned clinically by hepatic bile duct paucity and cholestasis, in association with cardiac, skeletal, and ophthalmologic manifestations, and characteristic facial features.
6p
videadpool
05-05-2023
7
2
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Neuromyelitis optica is a relapsing–remitting disease characterized by a recurrent attack of optic neuritis and transverse myelitis; sometimes associated with acute brainstem syndrome. Systemic lupus erythematosus is an autoimmune multisystem disorder in which ocular involvement such as acute ischemic optic neuropathy is a rare manifestation.
7p
videadpool
05-05-2023
6
2
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Porcine circovirus-like virus P1 is a relatively new kind of virus that is closely related to the postweaning multisystemic wasting syndrome, congenital tremors, and abortions in swine. The molecular mechanisms of P1 virus infection and pathogenesis are fully unknown.
9p
vidarwin
23-02-2022
8
1
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Preoperative frailty predicts adverse postoperative outcomes. Despite the advantages of incorporating frailty assessment into surgical settings, there is limited research on surgical healthcare professionals’ use of frailty assessment for perioperative care.
8p
vampires36
30-12-2021
9
0
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Inflammasomes are supramolecular protein complexes implicated in the detection of pathogens or danger-associated molecules and are responsible for mounting the first line of innate immune response to counteract these signals and restore tissue homeostasis. Among different inflammasomes identified so far, NLRP3 is of main interest since mutations in Nlrp3 gene are associated with autoinflammatory diseases such as Muckle–Wells syndrome, neonatal onset multisystem inflammatory disease, and familial cold urticaria/autoinflammatory syndrome.
11p
thiencuuchu
27-11-2021
9
1
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Eosinophilic granulomatosis with polyangiitis is a complex multisystemic syndrome with heterogeneous presentation. Most often, there is a clinical history of asthma or other atopic conditions, and current presentation generally includes signs of cutaneous or pulmonary involvement.
5p
viannito2711
20-04-2021
12
2
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Alagille syndrome is a multisystem disorder, which is characterized by hypoplasia of the intrahepatic bile ducts, malformations of the cardiovascular system, eyes, and vertebral column, and abnormal facies. Several of the characteristics of Alagille syndrome may result in an especially high risk of fracture.
7p
viannito2711
20-04-2021
10
2
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Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.
11p
viwyoming2711
16-12-2020
10
1
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Cachexia is a multisystem syndrome characterized by weight loss, anorexia, loss of muscle mass, systemic inflammation, insulin resistance, and functional decline. Management of cachexia involves addressing multiple underlying biological mechanisms.
15p
viputrajaya2711
22-06-2020
4
0
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This study aimed to isolate and examine the biological characteristics of PCV2 field strains circulating in Vietnam for further study in producing vaccine against PMWS (postweaning multisystemic wasting syndrome).
8p
tomhiddleston
25-05-2020
19
6
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: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.
9p
vivalanbo2711
19-03-2020
18
1
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Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis.
13p
vivalanbo2711
19-03-2020
32
2
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