Family disfunction

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disease, mainly caused by polycystic kidney disease 1/2 (PKD1/2) gene mutation. The main manifestation is the formation of multiple progressive enlarged cysts in both kidneys, which can be accompanied by decreased glomerular filtration rate, hypertension, liver cyst and cerebral aneurysm. About 45% of patients will progress to end-stage renal failure before the age of 60. ADPKD gene sequencing can be chosen for suspicious patients with atypical clinical features, no positive family history, and inconspicuous imaging findings...

People, who assist patients with chronic health problems for work, voluntary or for family reasons, may be affected by burnout. This is defined as an excessive reaction to stress caused by one's environment that may be characterized by feelings of emotional and physical exhaustion, coupled with a sense of frustration and failure. A person who assists a suffering person, beyond the professional role, is indicated generally by the term "caregiver". The definition of Burnout in families is fairly recent, because the psychology of trauma has ignored a large segment of traumatized and disabled subjects (family and other assistants of "suffering people") unwittingly, for a long time...

AIMS AND OBJECTIVES: The objective of this integrative review is to identify the factors that contribute to diet adherence in people suffering from kidney disease who are receiving haemodialysis treatment. BACKGROUND: Adherence to the therapeutic regimen determines therapeutic success, quality of life and survival in patients on haemodialysis. Lack of diet adherence ranges from 25%-86% in patients receiving haemodialysis treatment and affects patient morbidity and mortality...

In 2000, the third member of the globin family was discovered in human and mouse brain and named neuroglobin (Ngb). Ngb is a monomeric 3/3 globin structurally similar to myoglobin and to the α- and β-chains of hemoglobin, however it displays a bis-histidyl six-coordinate heme-Fe atom. Therefore, ligand binding to the Ngb metal center is limited from the dissociation of the distal His(E7)64-Fe bond. From its discovery, more than 500 papers on Ngb structure, expression, reactivity, and localization have been published to highlight its biochemical properties and its role(s) in health and disease...

Contrast-induced nephropathy (CIN) is a complication in patients after administration of iodinated contrast media. Several risk factors contribute to the development and progression of CIN, including hypertension, diabetes, and dyslipidemia. Animal models of CIN by surgical intervention to reproduce its clinical and pathology has been developed, and thus, therapeutic methods tested. Palmitoylethanolamide (PEA) is a member of the fatty acid ethanolamine family with analgesic and anti-inflammatory effects. In this study, we analyzed streptozotocin-induced diabetes model and in an another set of experiment a surgical remotion of the kidney with the aim of evaluating effect of ultramicronized Palmitoylethanolamide (PEA-um(®)) on contrast induced renal disfunction and glomerular morphology alteration...

Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder, whose causing gene (MeFV gene) was identified in 1997 and opened the way to a new fascinanting chapter of rheumatology. A growing body of monogenic and poligenic autoinflammatory disorders has been described since then. Arterial and venous thrombosis is a common medical problem, with significant morbidity and mortality...

BACKGROUND: The aim of this study was to evaluate whether neutrophil gelatinase-associated lipocalin (NGAL) and interleukin-18 (IL-18) predict renal disfunction in patients with familial Mediterranean fever (FMF). METHODS: This prospective study consisted of 102 patients with FMF in attack-free period, and 40 matched healthy controls. Of the patients, nine were diagnosed as amyloidosis. The patients were divided into two groups according to eGFR as below 120 mL per minute and above 120 mL per minute...

Cyanobacteria produce metabolites with diverse bioactivities, structures and pharmacological properties. The effects of microcystins (MCYs), a family of peptide type protein-phosphatase inhibitors and cylindrospermopsin (CYN), an alkaloid type of protein synthesis blocker will be discussed in this review. We are focusing mainly on cyanotoxin-induced changes of chromatin organization and their possible cellular mechanisms. The particularities of plant cells explain the importance of such studies. Preprophase bands (PPBs) are premitotic cytoskeletal structures important in the determination of plant cell division plane...

Asthma has been linked to family disfunctioning and poor control of the disease.This study was conducted to analyze the interactions between the level of intermittent asthma control, family functioning and respiratory function and between quality of life of asthmatic patients and their caregivers.7 to 15 years old children with intermittent asthma were included. Asthma Control Test Questionnaire, Pediatric Asthma Quality of Life Questionnaire (PAQLQ) test, and flowmetry were applied to children and Pediatric Asthma Caregiver´s Quatily of Life Questionnaire (PAQCLQ) and the Family Functioning Perception Test (FF-SIL) were applied to their parents...

The aim of this project was to assess the current evidence from longitudinal studies for childhood determinants of adult mental illness. Because of the variable and often prolonged period between factors in childhood and the identification of mental illness in adults, prospective studies, particularly birth cohorts, offer the best chance of demonstrating associations in individuals. A review was undertaken in 2006 of the published literature from longitudinal studies, together with some large-scale retrospective studies and relevant reviews which provided supplementary evidence...

Familial isolated pituitary adenoma (FIPA) is an autosomal dominant disease, characterized by low penetrance, early-onset disease, more invasive tumor growth, as well as somatotroph and lactotroph adenomas in most cases. It has been indicated that the aryl hydrocarbon receptor interacting protein (AIP) gene is a tumor suppressor gene. Many heterozygous mutations have been discovered in AIP in about 20% of FIPA families. However, the exact molecular mechanism by which its disfunction promotes tumorigenesis of pituitary is unclear...

One of the earliest neuropathological symptoms of Alzheimer's disease is the loss of synapses, which preceed the formation of amyloidosis and neurodegeneration. Although most cases of early-onset familial Alzheimer's disease are caused by mutations in the presenilin 1 (PS1) gene, the functions of PS1 and its role in synaptic disfunction are not yet completely understood. In this paper we analysed of the intracellular and extracellular distribution of PS1 in the cultures of mouse cortical embryonic neurons. We found that PS1 is concentrated on the surface of the growth cone and at neurite contact sites...

Substantial evidence from family, twin, and adoption studies corroborates implication of genetic and environmental factors, as well as their interactions, on suicidal behavior and alcoholism risk. Serotonergic disfunction seems to be involved in the pathophysiology of substance abuse, and has also an important role in suicidal behavior. Recent studies of the tryptophan hydroxylase 2 showed mild or no association with suicide and alcohol-related suicide. We performed SNP and alcohol analysis on 388 suicide victims and 227 controls...

UNLABELLED: The evolution of chronic viral and non-viral hepatitis in children, and the response to therapy influence the quality of life and the outcome of these patients and tehir family. MATERIAL AND METHOD: This study analyzes the quality of life in children with chronic liver disease, using the records of 45 patients hospitalised in the Hepatology Department of "Sf. Maria" Hospital of Children in Iaşi. Data were customised using Kindle questionnaire, measuring the scores for quality of life in children and adolescents with chronic disease...

Existing molecular knowledge base of cardiovascular diseases is rudimentary because of lack of specific attribution to cell type and function. The aim of this study was to investigate cell-specific molecular remodeling in human atrial and ventricular myocytes associated with ischemic cardiomyopathy. Our strategy combines two technological innovations, laser-capture microdissection of identified cardiac cells in selected anatomical regions of the heart and splice microarray of a narrow catalog of the functionally most important genes regulating ion homeostasis...

There are a lot of autoimmune syndromes with glandular disfunction which are associated to another diseases. Sometimes, these processes are associated to similar cases in the same family. Autoimmune polyglandular syndromes are characterized by the coexistence of two or more endocrine insufficiencies due to an autoimmune mechanism: the activity of autoantibodies or T activated lymphocytes against organs or endocrine glands. In this report, they have been described the main autoimmune syndromes, the diagnostic methods and the mechanisms which take a role in their origin...

OBJECTIVE: To determine the influence factors of perinatal stage transmission of hepatitis B virus (HBV) and to provide scientific evidence for the prevention of perinatal stag transmission of HBV. METHODS: A 1:1 matched nested case-control study was conducted, and 141 pair of pregnant women with HBsAg-positive and their newborns were enrolled. A questionnaire was performed and blood-related indicators were detected. The data were dealt with single factor analysis and conditional logistic regression analysis using SPSS 13...

INTRODUCTION: The process of aging presents functional limitations, loss of autonomy, independence, adaptability and motor disfunction. These changes raise challenges and concerns of vital importance both for those individuals who face them and for government organizations, thus motivating inquiry about the life and health conditions of the elderly. OBJECTIVE: To describe some components of the quality of life of the elderly population (aged 65 years or older) living in Medellin, including socio-demographic, family, social security and health conditions...

Ichthyoses belong to the group of genodermatoses, characterized by hyperkeratosis and desquamation of the epidermis. Clinical manifestation is heterogeneous and depends on the type of the disease. Harlequin foetus is the most severe form of congenital ichtyosis, inherited as an autosomal recessive trait. The disfunction of the epidermis begins prenatally. Neonates are often born prematurely, in severe condition. At present better care and treatment prolong the length and quality of children's life. We report a case of harlequin ichthyosis...

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the substrate DNA templates. However, around 5-10% of clinically well defined RTT patients do not show any mutations in this gene. Several hypotheses have been postulated to clarify the remaining unexplained RTT cases...