Search results for "HYPERTROPHY"
showing 10 items of 335 documents
G.P.192
2014
After uneventful pregnancies, two newborn siblings, a girl and a boy – another sibling was stillborn – developed inspiratory stridor, hypertrophy of the right cardiac ventricle, reduction in spontaneous movements and mildly elevated creatine kinase. Muscle biopsies at ages of three months and seven weeks were performed and respectively, revealed a 'prepathological' pattern of infantile neurogenic atrophy suggesting spinal muscular atrophy (SMA). However, molecular analyses of SMN (SMA) and IGHMBP2 (SMARD1) genes did not disclose any mutations. Further histochemical staining of the skeletal muscle and heart demonstrated almost complete absence of cytochrome c oxidase while SDH was preserved.…
AN ULTRASTRUCTURAL STUDY OF THE RETINA IN HUMAN LATE INFANTILE NEUROAXONAL DYSTROPHY
1993
A case involving a girl who died at 11 years of age and who had developed normally until the age of 18 months, at which time further psychomotor maturation stopped and then regressed, is reported. The patient appeared hypotonic and showed loss of deep tendon reflexes, as well as bulbar signs and increasing immobility. Visual impairment resulted in blindness at the age of 7 years. Her disease was diagnosed as late infantile neuroaxonal dystrophy (LINAD) after examination of sural nerve biopsy samples and after autopsy. Under electron microscopy, retinal axons were filled with tubulocisternal profiles and occasional large lamellar clefts close to or distant from synaptic complexes. These lesi…
Capillaries within human skeletal muscle fibers.
1991
Internalized capillaries, i.e. capillaries within muscle fibers, represent a rare myopathological feature. This was systematically studied in 923 muscle biopsy specimens and found in 24, chiefly in the gastrocnemius muscle, more rarely in the biceps and quadriceps muscles affecting males more often than females and most frequently associated with juvenile spinal muscular atrophy or Becker's muscular dystrophy. Internalized capillaries, often multiple, ran along the long axis of the muscle fiber within an "internalized" extracellular space and were almost exclusively seen in type I myofibers. Internalization seems to start at the site of fiber splitting while penetration through the intact s…
MR-tomographische Messung der diastolischen Relaxation hypertrophierter linker Ventrikel mit Single-slice-multi-phase-Technik
1993
In order to assess diastolic ventricular function in hypertensive patients, a single-slice multiphase sequence was used in order to measure contraction and early diastolic relaxation. There was no difference in the contraction velocity between hypertensives and normals (Vsys. n.r. = 56.1 +/- 13.8% LVDV/s vs. 51.7 +/- 8.6% LVEDV/s, stat, n. sign.). Early diastolic relaxation velocity in hypertensives was reduced as compared with the control group (Vdiast. 1n.r. = 37.9 +/- 13.1% LVEDV/s vs. 47.1 +/- 9.6% LVEDV/s, p < 0.05). There was no linear relation between abnormal relaxation and the extent of myocardial hypertrophy. Hypertensives with myocardial hypertrophy frequently had reduced early d…
0204: Proteome-wide sex-related differences in response to mouse thoracic aortic constriction: molecular bio-signature of failing hearts
2014
Chronic pressure overload (PO) induces pathological left ventricular hypertrophy (LVH) leading to congestive heart failure (HF). Over-expression of FKBP12.6 (FK506 binding protein (K)) in mice should prevent Ca2+-leak during diastole and may improve overall cardiac function. In order to decipher molecular mechanisms involved in thoracic aortic constriction (TAC)-induced cardiac remodelling and the influence of gender and genotype, we performed a proteomic analysis using 2D-DIGE, mass spectrometry and bioinformatics techniques to identify alterations in characteristic biological networks. Wild type (W) and K mice of both genders underwent TAC. Thirty days post-TAC, the altered cardiac remode…
P80Cannabinoid receptor CB2 prevents development of heart failure in a murine model of pressure overload
2014
Purpose: Cardiac adaptation to pressure overload is associated with inflammatory reaction, which untreated leads to myocardial fibrosis and heart failure. We have recently demonstrated that endogenous cannabinoids and the cannabinoid receptor 2 (CB2) are activated and associated with persistent inflammation in hypertrophic myocardium of patients with aortic valve stenosis. Therefore, we investigated the role of the CB2 in a mouse model of pressure overload. Methods: Transverse aortic constriction was performed in CB2-/--mice and their wildtype littermates (CB2+/+; n=8-12/group). Taqman® RT-qPCR analysis was performed after 3 and 7 days. After M-mode echocardiography and Millar® pressure-vol…
Genotype–phenotype correlation in a new Fabry-disease-causing mutation
2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…
Mucus and MUC in asthma.
2005
Asthma is characterized by chronic airway inflammation and a mucus hypersecretory phenotype comprising excess mucus secretion, goblet cell hyperplasia and submucosal gland hypertrophy. This augmented mucus secretion has been relatively undervalued in asthma compared with airway inflammation. However, mucus plugging contributes to airflow limitation and airway hyperresponsiveness, and to morbidity and mortality in asthma. We review recent contributions to this field and therapeutic avenues to control mucus hypersecretion.A distinct mucus hypersecretory phenotype may present in asthma. Overexpression of MUC5AC, MUC5B and MUC2 have been described in asthma secretions, but identification of def…
The murine bronchopulmonary microcirculation in hapten-induced inflammation
2006
ObjectiveThe clinical observation of central bronchial artery hypertrophy in chronic lung inflammation suggests the possibility that the bronchial circulation may also participate in adaptive responses in peripheral lung inflammation.MethodsTo investigate the potential role of the bronchial microcirculation in peripheral lung inflammation, we developed a murine model of lung inflammation using the intratracheal instillation of the peptide-hapten trinitrophenol in presensitized mice.ResultsClinical parameters indicated a peak inflammatory response at 96 hours. Similarly, gross and microscopic evidence of inflammation was observed 96 hours after antigen instillation. Using a forced oscillatio…
Left ventricular hypertrophy or storage disease? the incremental value of speckle tracking strain bull's-eye
2017
Left ventricular hypertrophy (LVH) develops in response to a variety of physical, genetic, and biochemical stimuli and represents the early stage of ventricular remodeling. In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. Strain measurement with two-dimensional speckle tracking echocardiography (STE) represents a highly reproducible and accurate alternative to LVEF determination. The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH. When assessing the components o…