Short 9q interstitial deletion in a neonate with lethal non‐immune hydrops

Sellitto, Maria; Genesio, Rita; Conti, Anna; Fabbrini, F.; Nitsch, Lucio; D’Armiento, Maria; Capasso, Letizia; Paludetto, R; Raimondi, Francesco

doi:10.1002/ajmg.a.32350

Cited by 3 publications

(1 citation statement)

References 17 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…3). The breakpoints in those cases were determined by molecular cytogenetic techniques or microarray analyses [Midro et al, 2004; Chen et al, 2006; Gamerdinger et al, 2008; Kulharya et al, 2008; Sellitto et al, 2008; de Ravel et al, 2009; Decipher patients: 248,259, 248,256, 4,435 (https://decipher.sanger.ac.uk/application/patient) and the present case]. The clinical manifestations associated with those cases of 9q interstitial deletion include mental retardation, postnatal developmental delay, speech delay, craniofacial dysmorphism, central nervous system malformations, and skeletal abnormalities (Table I).…”

Section: To the Editormentioning

confidence: 99%

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

Chien

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Section: To the Editormentioning

confidence: 99%

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

Chien

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Fetal Hydrops

Hartman

Heim-Hall

2011

Pathology Case Reviews

View full text Add to dashboard Cite

Pathophysiology of NASH: Perspectives for a Targeted Treatment

Marra¹,

Lotersztajn²

2013

CPD

143

126

View full text Add to dashboard Cite

Non alcoholic steatohepatitis (NASH) is the more severe form of nonalcoholic fatty liver disease. In NASH, fatty liver, hepatic inflammation, hepatocyte injury and fibrogenesis are associated, and this condition may eventually lead to cirrhosis. Current treatment of NASH relies on the reduction of body weight and increase in physical activity, but there is no pharmacologic treatment approved as yet. Emerging data indicate that NASH progression results from parallel events originating from the liver as well as from the adipose tissue, the gut and the gastrointestinal tract. Thus, dysfunction of the adipose tissue through enhanced flow of free fatty acids and release of adipocytokines, and alterations in the gut microbiome generate proinflammatory signals that underlie NASH progression. Additional 'extrahepatic hits' include dietary factors and gastrointestinal hormones. Within the liver, hepatocyte apoptosis, ER stress and oxidative stress are key contributors to hepatocellular injury. In addition, lipotoxic mediators and danger signals activate Kupffer cells which initiate and perpetuate the inflammatory response by releasing inflammatory mediators that contribute to inflammatory cell recruitment and development of fibrosis. Inflammatory and fibrogenic mediators include chemokines, the cannabinoid system, the inflammasome and activation of pattern-recognition receptors. Here we review the major mechanisms leading to appearance and progression of NASH, focusing on both extrahepatic signals and local inflammatory mechanisms, in an effort to identify the most promising molecular targets for the treatment of this condition.

show abstract

Short 9q interstitial deletion in a neonate with lethal non‐immune hydrops

Cited by 3 publications

References 17 publications

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

Fetal Hydrops

Pathophysiology of NASH: Perspectives for a Targeted Treatment

Contact Info

Product

Resources

About