Search results for "genetic predisposition"

Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…

2008

Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…

Animal models of non-alcoholic steatohepatitis: of mice and man.

2010

The epidemic occurrence of obesity has led to a rapid increase in the incidence of non-alcoholic fatty liver disease (NAFLD) in industrial countries. The disease spectrum includes hepatic steatosis, lobular inflammation with steatohepatitis (NASH) and varying degrees of liver fibrosis, which can progress to cirrhosis. Hepatocellular carcinoma can develop in patients with NASH, even in the absence of cirrhosis. The majority of patients with primary NASH exhibit risk factors that define the metabolic syndrome including insulin resistance and visceral obesity. However, only a minority of patients with NAFLD progress to end-stage liver disease and, so far, predictors to identify these patients …

Altered elemental profile as indicator of homeostatic imbalance in pathogenesis of oral submucous fibrosis

2002

Oral submucous fibrosis (OSF) is a potential precancerous condition of the oral cavity and oropharynx. The etiopathogenesis of this complex precancerous condition is still obscure. In addition to deleterious oral habits, malnutrition, and possible genetic predisposition, altered bioelemental status is also likely to play an important role in its pathogenesis. The present study analyzed 68 elements by inductively coupled plasma-mass spectroscopy in oral mucosa of normal and OSF individuals and some interesting alterations in elemental profile in the diseased tissue have been noted, indicating a homeostatic imbalance. These bioelemental alterations leading to homeostatic imbalance might be co…

Dupuytren's contracture: an update of biomolecular aspects and therapeutic perspectives.

2005

The so-called fibrogenic cytokines, able to induce the growth of fibroblasts and their differentiation into myofibroblasts and to stimulate their production of extracellular matrix, are involved in the genesis of Dupuytren’s contracture. Although many studies have been made of biomolecular aspects of palmar fibromatosis, practical applications from them are still far from imminent because of the real difficulty of blocking their action in vivo, even in a chronic, progressive lesion such as Dupuytren’s disease. Consequently, surgical excision of the palmar fascia still remains the treatment of choice.

Efficacy of photodynamic therapy in vulvar lichen sclerosus treatment based on immunohistochemical analysis of CD34, CD44, myelin basic protein, and …

2010

Introduction:Lichen sclerosus (LS) is a chronic skin and mucosa inflammatory disease. It affects mainly the female anogenital area especially in postmenopausal period. The main symptoms include pruritus, burning, pain, sometimes urinary problems, or difficulties in defecation. Usually, porcelain-white plaques are seen in the skin and mucosa. The etiology and pathogenesis of LS are still uncertain. There are some research studies on possible genetic predisposition, yet autoimmune, hormonal, or infectious factors are not excluded. The typical treatment of LS is mainly pharmacological, although the alternative treatment method used in LS is photodynamic therapy (PDT), which is noninvasive tech…

Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic Conditions

2013

Maliszewska, Agnieszka et al.

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

2020

Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

2021

Febrile seizure and related syndromes

2018

Abstract Febrile seizures (FS) are the result of particular sensitivity to fever in the developing brain, have a major genetic predisposition, and nearly always have a benign outcome. Febrile seizures are the most common for of seizures in childhood. They have been observed in 2–6% of children before the age of 5 years, but in some populations this figure increase to 15%. Febrile seizures could be the first manifestations of epilepsy. About 13% of epileptic patients have a history of febrile seizures, and 30% have had recurrent febrile seizures Their phenotypic characteristics allow, in the majority of cases, a classification of the seizure, an elaboration of a prognosis and to assume a spe…