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PubMed1986

[Primary pericardial malignant mesothelioma associated with constrictive pericarditis: a case report].

A case of primary pericardial malignant mesothelioma was presented, which initially had a relatively large quantity of pericardial fluid, followed by constrictive pericarditis. The patient was a 43-year-old woman whose chief complaint was dyspnea and admitted to our hospital in March, 1984. Because of a relatively large quantity of pericardial fluid was observed. In April, drainage of the fluid and pericardiotomy were performed with marked relief of symptoms. She was discharged, but her dyspnea recurred in August, and she was readmitted. After the second admission, the chest radiograph showed a cardiothoracic ratio of 62%, and her electrocardiogram showed low voltage. A pericardial knock was recorded, and the timing of this sound coincided with that of the peak of the early distolic wave of the mitral flow velocity pattern. A jugular pulse tracing showed a deep and sharp y descent. The diastolic pressure curve of the right ventricle revealed a dip and plateau pattern. The echocardiographic finding was characterized by abnormal systolic motion and an early diastolic dip of the interventricular septum, multiple abnormal echoes and thickening of the pericardium, and an abnormal mass echo in the left atrial cavity. Based on the above examinations, pericardiotomy was performed, but the tumor was not entirely resected. The histological diagnosis was malignant mesothelioma.

Adult↗
PubMed1980

[Ethical considerations in the management of hand abnormalities associated with multiple malformations (author's transl)].

Of 300 assorted patients with various congenital abnormalities of the hand, there were 12 with mutiple malformations. It can be concluded that: 1. An accurate diagnosis requires genetic and chromsomal investigations. 2. If there is a slight organic or mental abnormality or damage, the treatment of the hand abnormality is justifiable and should be treated just as an isolated abnormality. 3. If the associated somatic or mental abnormality is severe, the correction of the hand abnormality should be delayed in accordance with the overall status of the child.

Abnormalities, Multiple↗
PubMed1994

Effects of long-term right ventricular apical pacing on left ventricular perfusion, innervation, function and histology.

OBJECTIVES: The purpose of this study was to better understand the effects of long-term right ventricular pacing on left ventricular perfusion, innervation, function and histology. BACKGROUND: Long-term right ventricular apical pacing is associated with increased congestive heart failure and mortality compared with atrial pacing. The exact mechanism for these changes is unknown. In this study, left ventricular perfusion, sympathetic innervation, function and histologic appearance after long-term pacing were studied in dogs in an attempt to see whether basic changes might be present that might ultimately be associated with the adverse clinical outcome. METHODS: A total of 24 dogs were studied. Sixteen underwent radiofrequency ablation of the atrioventricular (AV) junction to produce complete AV block. Seven of these underwent long-term pacing from the right ventricular apex (ventricular paced group), and nine had atrial and right ventricular apical pacing with AV synchrony (dual-chamber paced group). A control group of eight dogs had sham ablations with normal AV conduction. These dogs had atrial pacing only. Regional perfusion and sympathetic innervation were studied in all dogs by imaging with thallium-201 and [I123]metaiodobenzylguanidine, respectively. The degree of innervation was also determined by assay of tissue norepinephrine levels. Left ventricular function was assessed by radionuclide ventriculography. Cardiac histology was studied with both light and electron microscopy. RESULTS: Mismatching of perfusion and innervation in the ventricular paced group was noted, with perfusion abnormalities of both the septum and free wall. Regional [I123]metaiodobenzylguanidine distribution was homogeneous. Tissue norepinephrine levels were elevated in both the ventricular and dual-chamber paced groups compared with the control group. No light or electron microscopic findings were noted in any groups. In the dual-chamber paced group, diastolic dysfunction was noted, with normal systolic function. CONCLUSIONS: Ventricular pacing resulted in regional changes in tissue perfusion and heterogeneity between perfusion and sympathetic innervation. Both ventricular and dual-chamber pacing were associated with an increase in tissue catecholamine activity. The abnormal activation of the ventricles via right ventricular apical pacing may result in multiple abnormalities of cardiac function, which may ultimately affect clinical outcome.

3-Iodobenzylguanidine↗
PubMed1999

Zic1 regulates the patterning of vertebral arches in cooperation with Gli3.

Skeletal abnormalities are described that appeared in Zic1-deficient mice. These mice show multiple abnormalities in the axial skeleton. The deformities are severe in the dorsal parts of the vertebrae, vertebral arches, but less so in the vertebral bodies (spina bifida occulta). The proximal ribs are deformed having ectopic processes. The abnormalities found in the vertebral arches can be traced back to disturbed segmental patterns of dorsal sclerotome. The Zic1/Gli3 double mutants showed severe abnormalities of vertebral arches not found in single mutants. The abnormalities in the vertebral arches were less severe in Zic1/Pax1 mutants than Zic1/Gli3 mutants, but significantly more pronounced than in Zic1 single mutants. The three genes may act synergistically in the development of the vertebral arches.

Animals↗
PubMed1975

Radioisotopic detection of osseius metastases. Evaluation of 99mTc polyphosphate and 99mTc pyrophosphate.

A total of 146 patients were investigated for the presence of osseous metastases with 99mTc polyphosphate or 99mTc pyrophosphate bone scans. Results of bone imaging were retrospectively compared to roentgenographic results surveying similar anatomic areas in 128 patients. This comparison revealed that roentgenographic interpretations were in error in 19% of the cases. Thirty-three patients had bone scans and roentgenograms that were in agreement and considered abnormal, but in more than one third of these cases the patients had multiple abnormalities that were shown by the bone scan but were not recognized roentgenographically. In consideration of the low toxicity, ready availability, economy, shortened procedure time, and low radiation dose associated with the use of these new bone-seeking agents, it is concluded that they are superior to roentgenograms and previously utilized radionuclides for early detection of osseous metastases.

Bone Neoplasms↗
PubMed2000

Fetal echogenic bowel: parameters to be considered in differential diagnosis.

OBJECTIVES: To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel. METHODS: Medical history, obstetric records and outcome details were examined for 131 consecutive pregnancies with fetal hyperechogenic bowel. RESULTS: In 62 (47%) cases, there were no visible anomalies other than hyperechogenic bowel and no evidence of growth restriction. This group included four (7%) pregnancies with Down syndrome, 15 (24%) with infection or a recent episode of influenza and eight (13%) with blood staining of amniotic fluid. In the remaining 69 (53%) cases, hyperechogenic bowel was accompanied by hydrops or nuchal edema (n = 16, 12.2%), growth restriction (n = 9, 6.9%), other markers for chromosome anomalies (n = 33, 25.2%) or multiple structural anomalies (n = 11, 8.4%). In this group, the prevalence of Down syndrome was 12%, infection or influenza was reported in 14 (20%) cases and there was blood staining of amniotic fluid in seven (10%). Cystic fibrosis screening was performed in 65 (50%) pregnancies; the results were negative in all cases and clinical assessment did not indicate cystic fibrosis in any of the 91 infants who were born alive. Maternal serum screening was performed in 41 (31%) pregnancies. High alpha-fetoprotein levels were associated with multiple abnormalities or severe growth restriction. CONCLUSIONS: In many pregnancies with fetal hyperechogenic bowel, there are multiple factors that may explain these findings. Thus identification of one potential underlying cause should not preclude further testing. Once chromosome defects, cystic fibrosis, structural abnormalities, infection and growth restriction have been excluded, parents can be counseled that the prognosis is good, irrespective of the presence or absence of blood stained amniotic fluid.

Adolescent↗
PubMed1991

Many membrane abnormalities in hypertension result from one primary defect.

Evidence has been presented that: 1.) Changes in lipid bilayer alter the function of integral membrane proteins. 2.) There is less calcium bound to the plasma membrane in hypertension. 3.) Structural and functional abnormalities of the lipid bilayer have been reported in genetic hypertension. We hypothesize that multiple abnormalities of membrane transport systems in hypertension are secondary to an inherent abnormality of the lipid bilayer in which these transport proteins reside.

Animals↗
PubMed2005

Inspiratory and expiratory HRCT findings in Behçet's disease and correlation with pulmonary function tests.

PURPOSE: The purpose of our study was to describe the pulmonary parenchymal changes of Behçet's disease using high-resolution computed tomography and to correlate them with pulmonary function tests. MATERIALS AND METHODS: Thirty-four patients with Behçet's disease (18 men, 16 women), 3 of whom were symptomatic, were included as the study group. Four of 34 patients were smokers. Twenty asymptomatic volunteers (12 men, 8 women), 4 of whom were smokers, constituted the control group. The pulmonary function tests and high-resolution computed tomography were performed for both groups. RESULTS: Inspiratory high-resolution computed tomography findings were abnormal in nine patients (26.5%) of the study group. In eight patients, there were multiple abnormalities, whereas one patient had only one abnormality. Pleural thickening and irregularities, major fissure thickening, emphysematous changes, bronchiectasis, parenchymal bands, and irregular densities, and parenchymal nodules were the encountered abnormalities. Inspiratory high-resolution computed tomography scans were normal in the control group. On expiratory scans, there was statistically significant difference between study group and control group when air trapping, especially grades 3 and 4, was compared (P<0.01). Pulmonary function tests of both the study and the control groups were in normal ranges, and there was no statistically significant difference between the two groups according to pulmonary function tests (P>0.05). DISCUSSION AND CONCLUSION: High-resolution computed tomography is sensitive in the demonstration of pulmonary changes in patients with Behçet's disease. End-expiratory high-resolution computed tomography examination is very useful and necessary to show the presence of air trapping, thus the presence of small airway disease, even if the patient is asymptomatic or has normal pulmonary function tests.

Adolescent↗
PubMed1990

Abnormalities of lipoprotein metabolism in patients with the nephrotic syndrome.

BACKGROUND AND METHODS: Patients with the nephrotic syndrome characteristically have multiple abnormalities of lipoprotein metabolism, but the cause and exact nature of these abnormalities are uncertain. In this study, we measured serum lipids and apoproteins in 57 patients with the nephrotic syndrome. We also determined the kinetic indexes of low-density lipoprotein (LDL) metabolism in six patients, and again in three of the six after recovery. RESULTS: The patients with the nephrotic syndrome had elevated serum concentrations of cholesterol, triglycerides, and phospholipids, which were confined to the lipoproteins containing apoprotein B. The serum concentrations of high-density lipoproteins and the associated A-I and A-II apoproteins were similar in the patients with the nephrotic syndrome and normal subjects. The relative proportions of lipids and their positive association with the increased serum concentrations of apoproteins B, C-II, C-III, and E suggest quantitative rather than qualitative differences in the lipoproteins. All the patients had lipiduria, which probably reflected the excretion of high-density lipoproteins, although no intact immunoreactive apoprotein A-I was found in urine. Serum albumin concentrations were inversely related to serum lipid concentrations in the patients, the severity of the hypoalbuminemia corresponding to the degree of change in serum lipoprotein concentrations. The kinetic studies of lipoprotein metabolism revealed an overproduction of LDL apoprotein B that returned to normal after recovery. CONCLUSIONS: The elevated serum concentrations of LDL cholesterol, other lipids, and apoprotein B in patients with uncomplicated nephrotic syndrome are due to reversible increases in lipoprotein production.

Adolescent↗
PubMed2006

Phenotypic abnormalities observed in aged cloned mice from embryonic stem cells after long-term maintenance.

Somatic/embryonic stem cell cloning has made it possible to produce an individual genomically identical to another individual. However, the cloned animals have a variety of abnormalities caused by the aberrant gene modification, with insufficient reprogramming in cloning. We previously reported abnormalities in cloned mice at birth. In this study, we examined what abnormalities could be seen in cloned mice after long-term maintenance. The aged cloned mice showed multiple abnormalities: increase of body weight, some phenotypic abnormalities in the kidneys, testes and thymus, and lower urea nitrogen in their serum biochemical values. The kidneys of all cloned mice were hypertrophied, with a metamorphic or whitish appearance. The multiple lesions, including the enlarged renal pelvis and distension of the renal veins in histology, might be the result of urine accumulation by urinary tract obstruction. The testes of the cloned mice were atrophied, and showed no sperm formation in histology. In contrast, the thymus was rather hypertrophied, and a comparably increased number of lymphocytes were observed in the medulla, consisting mainly of T cells. By conducting a progeny test between the cloned mice, it was confirmed that these abnormalities in the aged cloned mice were not transmitted to their offspring, indicating that the incomplete reprogramming in clones might be in part responsible for the abnormalities detected in aged clones. These results indicate that the postnatal abnormalities observed in aged cloned mice are varied and can be restored through the germ line.

Aging↗
PubMed1998

Prothrombotic disorders in infants and children with cerebral thromboembolism.

BACKGROUND: To our knowledge, the contribution of prothrombotic conditions to cerebral thromboembolism has never been prospectively studied in a large series of pediatric patients. METHODS: The Hospital for Sick Children, Toronto, Ontario, established a program in January 1992 to diagnose and treat children (term newborn to 18 years old) with arterial ischemic stroke or sinovenous thrombosis. The routine evaluation for prothrombotic conditions included plasminogen, antithrombin, protein C, free protein S, activated protein C resistance, IgG and IgM anticardiolipin antibody, and lupus anticoagulant. We analyzed samples taken within 2 years of the event. We report results on patients seen from January 1, 1992, to January 1, 1997. RESULTS: Ninety-two patients (47 males and 45 females) entered the program during the study interval. Patients ranged from newborn to 18 years in age. Arterial ischemic stroke occurred in 78% of patients while sinovenous thrombosis occurred in 22%. All were tested for prothrombotic disorders. One or more abnormal results were present in 35 (38%) of the 92 patients. The majority (21/35) had multiple abnormal test results. The abnormal test results were anticardiolipin antibody (33%), plasminogen (9.5%), activated protein C resistance (9%), protein C (7%), antithrombin (12.5%), lupus anticoagulant (8%), and free protein S (11.5%). Male sex predicted the presence of prothrombotic abnormalities (relative risk, 1.7; 95% confidence interval, 1.2-2.5), but stroke type (relative risk, 0.8; 95% confidence interval, 0.7-1.1), age group, and presence of other risk factors did not predict abnormal testing. CONCLUSIONS: A significant proportion (38%) of children with cerebral thromboembolism had evidence of prothrombotic conditions. In particular, there was a predominance of children with anticardiolipin antibody (33%). These data support a recommendation that children with cerebral thromboembolism be evaluated for prothrombotic disorders.

Adolescent↗
PubMed1997

Laryngeal deglutition movement in Parkinson's disease.

Laryngeal muscle function is defective in Parkinson's disease (PD) patients; the intrinsic group (vocal cords) is defective during phonation and the extrinsic group (laryngeal strap muscles) is slow during deglutition. There are no studies of vocal cord motility during deglutition in PD. We investigated laryngeal motility during deglutition in 71 patients with PD in a videofluoroscopic swallowing study. Patients were subdivided into two groups by the Hoehn and Yahr disability scale, stages II and III (n = 38) and stages IV and V (n = 33). At least one abnormality of laryngeal movement was present in 68 of 71 patients (95.8%); most patients had multiple abnormalities. There was statistically significant slowing of vertical laryngeal excursion; true vocal cord closure; or delayed, incomplete, or absent opening of the true vocal cords. Patients with more advanced disease manifested more deficits of laryngeal movement. Laryngeal dysmotility in PD may be related to defective descending basal ganglionic control of medullary deglutory and phonatory motor functions.

Aged↗
PubMed1987

[Anomalies of coagulation and thromboembolic complications of nephrotic syndromes].

Thrombo-embolic events remain one of the most serious complications in patients with nephrotic syndrome (NS). A causal relationship between coagulation abnormalities and the occurrence of thrombosis in NS has been searched. Several studies have demonstrated multiples abnormalities in the coagulation factors and platelets; however those studies did not provide adequate explanations for the thrombotic tendency of NS. This thrombotic tendency could be related to deficiency in natural coagulation inhibitors. Plasma ATIII level has been reported to be decreased both in some adults and children. Protein C is found normal or high in NS whereas protein S is increased. Nevertheless a possible decrease in functional protein S cannot be excluded.

Blood Coagulation Disorders↗
PubMed1977

Heterogeneity of bilateral renal agenesis.

Bilateral and unilateral renal agenesis may be expressions of single dominant gene. Chromosome abnormalities may be present and the renal agenesis may be part of a syndrome of multiple abnormalities. Apparently normal relatives of affected individuals should be screened by intravenous pyelography before genetic counselling given.

Child↗
PubMed1993

Lung function in children and adolescents with tetralogy of Fallot after intracardiac repair.

We studied lung function in 41 patients, aged 6-27 years, 1-5 years after intracardiac surgical repair (ICR) of tetralogy of Fallot (TOF) and about 5 years after the establishment of the Pediatric Cardiac Center in Prague. The measurements included vital capacity (VC), total lung capacity (TLC), functional residual capacity (FRC), residual volume (RV), forced expiratory flows (FEF), specific airway conductance (SGaw), lung recoil pressure (Pst), and specific static lung compliance (SC1st). Single or multiple abnormal lung function parameters were found in 83% of patients. Lung function was not related to shunting operations prior to ICR, hemoglobin concentration, and hematocrit, and had no specific pattern. Pst at 100% TLC and 90% TLC declined with increasing age at ICR and at lung function testing, while SC1st rose, as did the ratio FRC/TLC. Fifteen patients were studied before and after surgery. Single or multiple lung function tests were abnormal in 93% before and in 84% after ICR. After ICR the ratios FRC/TLC and also RV/TLC, FEF at 25% VC, and FEF at 60% TLC were less frequently abnormal, while Pst at 100% TLC and at 90% TLC, as well as SGaw and TLC, were more frequently abnormal after ICR. The results indicated a regression of smaller airway obstruction and lung hyperinflation after ICR. The evolution of abnormally compliant (emphysematous) lungs with growth of the patients might be a sign of permanent sequelae of early lung damage from abnormal pulmonary hemodynamics.

Adolescent↗
PubMed1989

Population surveillance of sentinel anomalies.

Three types of indicator conditions, namely sentinel anomalies, Down syndrome and pair-wise evaluation of component congenital anomalies in unidentified multiple congenital abnormalities, are evaluated continuously in Hungary. This paper summarizes some data of the Hungarian Surveillance of Sentinel Anomalies (1980-1987). The observed rate of 15 sentinel anomalies was 3.7 per 10,000 live births. An average of 35 new mutations per 100,000 live births was found annually. This database is appropriate for the estimation of mutation rates in these sentinel anomalies. The mean maternal age did not differ significantly in comparisons of either sporadic vs. familial cases or sporadic vs. matched control cases. However, the mean paternal age was significantly higher in the sporadic cases than in the familial and matched control cases. The analysis of environmental histories in sporadic cases is in progress.

Abnormalities, Multiple↗
PubMed1995

Intracytoplasmic sperm injection in dysmorphic human oocytes.

Fertilisation and development of dysmorphic human oocytes recovered from hyperstimulated ovaries have been evaluated following intracytoplasmic sperm injection (ICSI) for treatment of male infertility. A total of 2968 oocytes at metaphase II of meiosis were injected, of which 806 (27.2%) were dysmorphic at the light microscopic level. Cytoplasmic abnormalities included granularity, areas of necrosis, organelle clustering, vacuoles, and accumulating saccules of smooth endoplasmic reticulum. Anomalies of the first polar body and zona pellucida, as well as non-spherical shapes of oocytes, were also noted. Contrary to previous findings linking some dysmorphisms to non-assisted fertilisation failure, in this study no single abnormality led to a reduction in the fertilisation rate, nor was fertilisation compromised in oocytes with multiple abnormalities. The incidence of normal fertilisation (two pronuclei and two polar bodies) was 69% in both the dysmorphic and non-dysmorphic oocytes. While overall pregnancy and implantation results were not altered in the group of patients (n = 242) in whom at least one dysmorphic oocyte was injected, exclusive replacement of embryos which originated from dysmorphic oocytes led to a higher incidence of early pregnancy loss. It is concluded that aberrations in the morphology of human oocytes--most probably a product of controlled ovarian stimulation--are of little or no consequence to fertilisation or early cleavage after ICSI. It is possible, however, that these embryos have a reduced potential for implantation and further development.

Embryo Implantation↗