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Amyloidosis is a severe disease caused by protein misfolding and deposition in tissues and organs. Thirty-eight different proteins are known to be amyloidogenic. Amyloidosis is categorized into inherited or acquired, and systemic or localized.

Stone heart syndrome after prolonged cardioplegia induced cardiac arrest in open-heart surgery - a pilot study on pigs.

Objectives: To investigate Stone Heart Syndrome (SHS) as consequence of prolonged ischemic arrest in an experimental study on pigs in regards to onset of SHS and pathological changes. Outcomes defined as aortic cross clamp (ACC) time until onset of SHS and cellular changes characterized by SHS.

Methods: Eight pigs were included to undergo normothermic cardioplegia induced cardiac arrest ranging from 80 to 240 minutes of ACC.

Classification of Amyloidosis by Model-Assisted Mass Spectrometry-Based Proteomics.

Amyloidosis is a rare disease caused by the misfolding and extracellular aggregation of proteins as insoluble fibrillary deposits localized either in specific organs or systemically throughout the body. The organ targeted and the disease progression and outcome is highly dependent on the specific fibril-forming protein, and its accurate identification is essential to the choice of treatment. Mass spectrometry-based proteomics has become the method of choice for the identification of the amyloidogenic protein.

Syndrome of Congenital Insulin Resistance Caused by a Novel Gene Mutation.

Mutations in the gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue syndrome), Rabson-Mendenhall syndrome and insulin resistance type A. Leprechaunism is an autosomal recessive disorder associated with extreme insulin resistance that leads to hyperinsulinemia, impaired glucose homeostasis, fasting hypoglycemia and postprandial hyperglycemia. Impaired insulin action causes prenatal and postnatal growth retardation.

Combined Subcutaneous Fat Aspirate and Skin Tru-Cut Biopsy for Amyloid Screening in Patients with Suspected Systemic Amyloidosis.

Screening for systemic amyloidosis is typically carried out with abdominal fat aspirates with varying reported sensitivities. Fat aspirates are preferred for use in primary screening instead of organ biopsies as they are less invasive and thereby minimize the potential risk of complications. At Odense Amyloidosis Center, we performed a prospective study on whether the combined use of fat aspirate and tru-cut skin biopsy could increase the diagnostic sensitivity.

The Mechanism Switching the Osteoclast From Short to Long Duration Bone Resorption.

The current models of osteoclastic bone resorption focus on immobile osteoclasts sitting on the bone surface and drilling a pit into the bone matrix. It recently appeared that many osteoclasts also enlarge their pit by moving across the bone surface while resorbing. Drilling a pit thus represents only the start of a resorption event of much larger amplitude.

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.

Introduction: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene. The aim of this work was to investigate the clinical phenotype, therapeutic strategies, and molecular background of HR in children hospitalised in our clinic.

Material And Methods: Eleven patients aged 5.

Immunoelectron microscopy and mass spectrometry for classification of amyloid deposits.

Amyloidosis is a shared name for several rare, complex and serious diseases caused by extra-cellular deposits of different misfolded proteins. Accurate characterization of the amyloid protein is essential for patient care. Immunoelectron microscopy (IEM) and laser microdissection followed by tandem mass spectrometry (LMD-MS) are new gold standards for molecular subtyping.

Association of central blood pressure with left atrial structural and functional abnormalities in hypertensive patients: Implications for atrial fibrillation prevention.

Aims: Functional and structural abnormalities of the left atrium have been demonstrated to be clinically and prognostically significant in a range of cardiovascular disorders, increasing the risk of atrial fibrillation. Among the potential contributors to these aberrations, central arterial factors remain insufficiently defined. Accordingly, we sought to investigate the determinants of left atrium abnormalities in hypertension, with special focus on central haemodynamics.

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype-phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD.

The choroid plexus sodium-bicarbonate cotransporter NBCe2 regulates mouse cerebrospinal fluid pH.

Key Points: Normal pH is crucial for proper functioning of the brain, and disorders increasing the level of CO in the blood lead to a decrease in brain pH. CO can easily cross the barriers of the brain and will activate chemoreceptors leading to an increased exhalation of CO . The low pH, however, is harmful and bases such as HCO are imported across the brain barriers in order to normalize brain pH.

Comparison of the Diastolic Stress Test With a Combined Resting Echocardiography and Biomarker Approach to Patients With Exertional Dyspnea: Diagnostic and Prognostic Implications.

Objectives: This study sought to establish the diagnostic and prognostic value of a strategy for prediction of abnormal diastolic response to exercise (AbnDR) using clinical, biochemical, and resting echocardiographic markers in dyspneic patients with mild diastolic dysfunction.

Background: An AbnDR (increase in left ventricular filling pressure) may indicate heart failure with preserved ejection fraction as the cause of symptoms in dyspneic patients, despite a nonelevated noncardiac at rest. However, exercise testing may be inconclusive in patients with noncardiac limitations to physical activity.

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome.

The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY.

Association of Abnormal Left Ventricular Functional Reserve With Outcome in Heart Failure With Preserved Ejection Fraction.

Objectives: This study sought to determine the prognostic value of abnormal diastolic and systolic responses to exercise (on the basis of exertional E/e' and global longitudinal strain rate [GSR]) in a well-characterized population of patients with heart failure with preserved ejection fraction (HFpEF).

Background: Impaired cardiovascular functional reserve is believed to contribute to adverse outcomes in HFpEF. However, the exact characteristics of pathophysiological profiles associated with increased clinical risk are still poorly defined.

[Y chromosome in Turner syndrome].

Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present.

Effect of Aldosterone Antagonism on Exercise Tolerance in Heart Failure With Preserved Ejection Fraction.

Background: Impaired functional capacity is a hallmark of patients with heart failure with preserved ejection fraction (HFpEF). Despite the association of HFpEF with reduced myocardial compliance attributed to fibrosis, spironolactone has not been shown to alter outcomes-perhaps reflecting the heterogeneity of underlying pathological mechanisms.

Objectives: The authors sought to identify improvement in exercise capacity with spironolactone in the subset of patients with HFpEF with exercise-induced increase in ratio between early mitral inflow velocity and mitral annular early diastolic velocity (E/e') reflecting elevation of left ventricular (LV) filling pressure.

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia.

Temporal deletion of in mice is linked to the severity of cyst-like disease.

Aquaporin 11 (AQP11) is a channel protein with unknown biological function that is expressed in multiple tissues, including the kidney proximal tubule (PT) epithelium. Constitutive deletion of in mice () results in early postnatal vacuolization in the PT and development of apparent cysts at 2 wk of age. Electron microscopy of adult mouse PT cells revealed a dilated rough endoplasmic reticulum.

Prolonged Starvation Causes Up-Regulation of AQP1 in Adipose Tissue Capillaries of AQP7 Knock-Out Mice.

Aquaporins (AQPs) are membrane proteins involved in the regulation of cellular transport and the balance of water and glycerol and cell volume in the white adipose tissue (WAT). In our previous study, we found the co-expression of the AQP1 water channel and AQP7 in the mouse WAT. In our present study, we aimed to find out whether prolonged starvation influences the AQP1 expression of AQP7 knock-out mice (AQP7 KO) in the WAT.

Contributions of Nondiastolic Factors to Exercise Intolerance in Heart Failure With Preserved Ejection Fraction.

Background: Heart failure with preserved ejection fraction (HFpEF) has a complex etiology. Factors responsible for development of impaired exercise tolerance and disease progression are incompletely defined.

Objectives: The authors sought to define the contributions of contractile reserve, ventriculo-arterial coupling (VAC) reserve, and chronotropic response to the progression of HFpEF.

Dynamic subcellular localization of aquaporin-7 in white adipocytes.

Aquaporin-7 (AQP7) is expressed in adipose tissue, permeated by water and glycerol, and is involved in lipid metabolism. AQP7-null mice develop obesity, insulin resistance, and adipocyte hypertrophy. Here, we show that AQP7 is expressed in adipocyte plasma membranes, and is re-localized to intracellular membranes in response to catecholamine in mouse white adipose tissue.

Biventricular response of the heart to endurance exercise training in previously untrained subjects.

Background: Functional adaptation of the heart to regular strenuous exercise has not been fully elucidated yet, with different patterns of alterations being reported. We evaluated the effect of endurance exercise training (EET) on left (LV) and right ventricular (RV) mechanics in amateur individuals preparing for triathlon competitions.

Methods: Twenty-one subjects aged 33 ± 6 years underwent conventional and speckle tracking echocardiography at rest before and after a high-intensity (12.

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.

Objective: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare disorder caused by mutations in NR0B1 (DAX1) gene.

Design: We present two boys (cousins) with AHC who came to our attention at the age of 10 days and 15 days, respectively, in a life-threatening state. Laboratory studies in their neonatal periods showed hyponatremia and hyperkalemia.

Cardiac arrest due to left circumflex coronary artery embolism as a complication of subtherapeutic oral anticoagulation in a patient with mitral and aortic mechanical valve prostheses.

We report a case of a 65-year-old female patient after replacement of aortic and mitral valve with mechanical prostheses and implantation of a pacemaker hospitalized in our clinic due to acute coronary syndrome complicated with cardiac arrest due to ventricular fibrillation. The electrocardiogram performed on admission showed signs of myocardial infarction with concomitant ventricular pacing. After successful resuscitation the coronary angiography was performed, which showed occlusion of the left circumflex artery (LCx) by thrombus.