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Biomedical subjects

E Cutz

Publications and source records attributed to E Cutz.

At least 163 records · Page 9Linked to original sources
PubMed1975

Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler's syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.

Clinical Enzyme Tests↗
PubMed1975

Ultrastructure and fluorescence histochemistry of endocrine (APUD-type) cells in tracheal mucosa of human and various animal species.

This study describes distrinctive cells with ultrastructural and histochemical features of APUD-type endocrine cells within the tracheal epithelium of human fetuses, newborns and children as well as different animal species. These cells referred to as Kultschitzky cells (K cells) were found to be argyrophilic, but not argentaffin, and are considered analogous to the same type of cells in lung and gastro-intestinal tract. Fluorescence histochemistry demonstrated the presence of intracellular amine within tracheal K cells, but only after in-vitro or in-vivo administration of amine precursor (L-DOPA). Ultrastructurally, these cells are characterized by the presence of numerous cytoplasmic granules (dense core vesicles) which show species related morphologic variations. Two different types of K cells were found in trachea of lamb and armadillo, each type possessing morphologically different dense core vesicles. In human and rabbit tracheas, only one type of K cell was identified. K cells in the trachea are distributed as single cells between other epithelial cells; neuroepithelial bodies such as those found in bronchial mucosa were not identified. Well differentiated K cells were found in tracheas of early human fetuses and throughout gestation, infancy, and childhood. Preservation of K cells in human autopsy material and widespread occurence of these cells in various laboratory animals will permit further studies into the nature and function of tracheobronchial endocrine cells.

Animals↗
PubMed1975

Acute liver disease and encephalopathy mimicking Reye syndrome. A report of three cases.

Three patients are described whose clinical presentation suggested Reye syndrome, and in whom the initial laboratory investigations supported the diagnosis. The subsequent clinical and biochemical evolution of the illness differed from that of Reye syndrome. The liver biopsy of each patient revealed changes in centrilobular hepatocytes rather than the diffuse small droplet fatty change characteristic of Reye syndrome. In each of them normal liver functions were regained. The findings in these patients suggest that a firm diagnosis of Reye syndrome cannot be made without histologic examination of the liver.

Acute Disease↗
PubMedDate not supplied

Possible defect in the bile secretory apparatus in arteriohepatic dysplasia (Alagille's syndrome): a review with observations on the ultrastructure of liver.

Ultrastructural observations on 12 liver biopsies from 10 patients with arteriohepatic dysplasia syndrome (Alagille's syndrome) are reported. The electron microscopic changes in the liver in this condition are different from those seen in other forms of chronic intra- and extrahepatic cholestasis. In particular, the bile canalicular and pericanalicular changes classically observed in cholestasis are infrequently seen. When compared with other forms of intrahepatic cholestasis including syndromes associated with paucity of intrahepatic bile ducts, the ultrastructural changes in Alagille's syndrome appear to be distinctive. Bile pigment retention is found in the cytoplasm especially in lysosomes and in vesicles of the outer convex face of the Golgi apparatus (cis-Golgi), but rarely in bile canaliculi or the immediate pericanalicular region. These results suggest a block in the Golgi apparatus or in the pericanalicular cytoplasm.

Bile↗
PubMedDate not supplied

Infected thymic cyst: an unusual cause of respiratory distress in a child.

A 15-month-old male developed acute respiratory distress following a prolonged upper respiratory tract infection. Laboratory and radiological investigations suggested tracheal compression by a malignant anterior mediastinal mass. Following a short course of steroid therapy, urgent exploration of the mediastinum and resection of the mass was carried out; resolution of the airway obstruction was obtained. Histological and bacteriological examination of the lesion revealed it to be a thymic cyst infected by Haemophilus Influenzae with abscess formation. The causes of tracheal compression in childhood are discussed.

Abscess↗
PubMedDate not supplied

Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency.

Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine across the inner mitochondrial membrane. We report a case of CACT deficiency in a newborn who died at 72 h of age from severe, intractable cardiac tachyarrhythmia, despite an improvement in his neurological and biochemical status. Postmortem examination showed marked steatosis of myocardium, liver, and kidney. In addition, electron microscopic studies showed virtually complete elimination of mitochondria from cardiomyocytes. It appears that the correction of the acute metabolic derangements in this condition may not prevent rapid progression to death, suggesting that the rhythm disturbances in CACT deficiency result from prior and ongoing accumulation of toxic metabolites, rather than from an acute metabolic derangement. Furthermore, we speculate that the choice of anti-arrhythmic agent in this patient may paradoxically have contributed to his death.

Carnitine O-Acetyltransferase↗
PubMedDate not supplied

Microvillous inclusion disease: report of a case with atypical features.

Microvillous inclusion disease is a rare lethal disorder characterized by intractable, severe, watery diarrhea beginning in early infancy. The underlying defect is thought to be an autosomal recessive genetic abnormality resulting in defective brush-border assembly and differentiation. Normally, this diagnosis is easily established through the electron microscopic demonstration of characteristic microvilli-lined inclusions lying within the apical cytoplasm of surface enterocytes. In a small number of patients appearing to have microvillous inclusion disease it has not proven possible to demonstrate the typical inclusions. The existence of another entity, termed intestinal microvillous dystrophy, has been proposed to account for such occurrences. This assertion was founded in large part upon the observation that the few subjects studied all displayed a slightly atypical clinical presentation. The case now being presented exhibited the morphologic features ascribed to intestinal microvillous dystrophy but had a clinical presentation that was entirely typical of microvillous inclusion disease. It serves thus to conceptually unite intestinal microvillous dystrophy with microvillous inclusion disease.

Cytomegalovirus Infections↗
PubMedDate not supplied

Ultrastructure of lamellar bodies in congenital surfactant deficiency.

Congenital surfactant deficiency (CSD) is a newly identified neonatal lung disorder associated with a variety of molecular defects affecting surfactant synthesis and secretion in alveolar type II cells. The authors present ultrastructural findings of abnormal lamellar bodies in lung biopsies from 4 infants with CSD. All were term infants presenting shortly after birth with severe respiratory failure that was unresponsive to conventional therapy and all died within the first month of life. Lung biopsies were performed between 8 and 25 days of age. Biochemical and molecular studies in 2 unrelated male infants identified SP-B deficiency, one case with 121 ins 2 mutation and the second with a 209 + 4 A > G mutation. Light microscopy in both cases showed features of alveolar proteinosis. Ultrastructurally, alveolar type II cells lacked mature lamellar bodies, and their cytoplasm contained numerous pleomorphic inclusions with membranous and vesicular structures not seen in normal type II cells. The other 2 infants were a pair of siblings in whom molecular studies identified mutations in ABCA3 transporter gene. Light microscopy showed features of acinar dysplasia and desquamative interstitial pneumonitis. TEM studies revealed absence of mature lamellar bodies in type II cells and instead showed a mixture of cytoplasmic electron-dense inclusions with concentric membranes and distinctive electron dense aggregates. The ultrastructural changes in alveolar type II cells correlated well with specific gene defect. In SP-B deficiency, the absence of mature lamellar bodies is consistent with the postulated role for this protein in the formation of lamellar bodies. The lack of mature lamellar bodies in the ABCA3 gene mutations is due to the dysfunction of this endogenous lipid transporter that targets surfactant lipid moieties to the lamellar bodies. The findings demonstrate the importance of TEM studies of lung biopsies from infants with CSD as it is a critical adjunct in the diagnosis of neonatal lung disease and in defining the underlying cellular defects.

ATP-Binding Cassette Transporters↗
PubMedDate not supplied

Hyperplasia of bombesin-immunoreactive pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome.

The distribution and frequency of bombesin immunoreactive neuroendocrine (NE) cells including neuroepithelial bodies (NEB) was analyzed morphometrically in lung sections from 25 infants who died of sudden infant death syndrome (SIDS) and 25 control infants. The control group included infants age-matched to those with SIDS, as well as subjects ranging in age from early to late infancy, to define the postnatal development of pulmonary NE-cell system. Quantitative analysis was performed on lung sections immunostained with monoclonal antibody against bombesin and the contents of bombesin-like peptide in lung extracts were measured by a specific radioimmunoassay (RIA). In control infants, the frequency of NE cells was high at birth but decreased dramatically during the first year of life. In SIDS infants, the frequency of NE cells, the size of NEB, and the mean concentration of bombesin-like peptide detected by RIA were significantly increased compared to those values for age-matched controls. These findings suggest hyperplasia of bombesin-immunoreactive NE-cell system in the lungs of SIDS infants. Since NEB are thought to function as hypoxia-sensitive airway chemoreceptors and since these cells are prominent in the neonates but decline postnatally, we speculate that chronic hypoxia and/or developmental delay may be responsible for this alteration in the lungs of SIDS victims. Potential dysfunction of pulmonary NE-cell system, compounded by other abnormalities in the autonomic regulation of respiration may be of importance in the pathogenesis of SIDS.

Bombesin↗
PubMedDate not supplied

Abnormal pulmonary bombesin immunoreactive cells in Wilson-Mikity syndrome (pulmonary dysmaturity) and bronchopulmonary dysplasia.

Wilson-Mikity syndrome (WMS) is a disorder of uncertain origin. It is sometimes considered a variant of bronchopulmonary dysplasia (BPD), but it lacks the characteristic microscopic stigmata of destruction and fibrosis caused by the barotrauma and oxygen toxicity of ventilator support. Conventional clinical and autopsy studies of WMS have failed to identify the underlying pathophysiology. This study evaluated bombesin-containing pulmonary neuroendocrine (PNE) cells in eight WMS cases, seven cases of BPD, and five controls, using the immunoperoxidase technique. The PNE cells were quantified by established morphometric techniques. The percentage of airways containing PNE cells in WMS (mean, 85.56%) was similar to that in the controls (mean, 82.6%) but significantly greater than that in BPD (mean, 21.28%) (p < .001). Measurement of intraepithelial PNE cell cytoplasm within the bombesin-immunopositive airways demonstrated apparent PNE cell hyperplasia in both WMS and BPD. Prominent numbers of PNE cells were also present in the respiratory bronchioles and alveolar units in WMS. The increased PNE cells in WMS may reflect chronic hypoxia from hypoventilation and or autonomic dysfunction. The profile in BPD may reflect a similar pathophysiology but complicated by ventilator-induced injury to airway epithelium.

Bombesin↗
PubMedDate not supplied

Sudden death in infants under one year of age.

Clinical and postmortem findings on 126 consecutive cases of sudden infant deaths occurring in Metropolitan Toronto over a 42-month period were reviewed and classified. Of these cases, 101 were diagnosed as sudden infant death syndrome (SIDS), the other 25 as due to other causes. The SIDS cases were classified into three groups: A-1 (39%), infants born at term who died between 2 weeks and 6 months of age and in whom clinical and autopsy findings were negative; A-2 (4%), same as A-1, except that the infants were born prematurely (< 36 weeks of gestation); and B (57%), infants with miscellaneous minor clinical and pathological findings not directly related to or responsible for death. The most common findings in group B were clinical and/or pathological signs of minor respiratory infection. These findings were prevalent in older SIDS infants (> 10 weeks at death), with up to 80% concordance between clinical and pathological indices of respiratory infection. Group B also included cases with minor congenital abnormalities, drug use by mother, and other miscellaneous findings. This report defines the clinicopathological features of SIDS infants and describes the spectrum of findings associated with the syndrome. It is suggested that by applying uniform criteria for definition and classification of SIDS a more reliable data base can be obtained, facilitating research into the causes and pathogenesis of SIDS.

Adult↗
PubMedDate not supplied

Microvillous inclusion disease: report of a case with atypical features.

Microvillous inclusion disease is a rare lethal disorder characterized by intractable, severe, watery diarrhea beginning in early infancy. The underlying defect is thought to be an autosomal recessive genetic abnormality resulting in defective brush-border assembly and differentiation. Normally, this diagnosis is easily established through the electron microscopic demonstration of characteristic microvilli-lined inclusions lying within the apical cytoplasm of surface enterocytes. In a small number of patients appearing to have microvillous inclusion disease it has not proven possible to demonstrate the typical inclusions. The existence of another entity, termed intestinal microvillous dystrophy, has been proposed to account for such occurrences. This assertion was founded in large part upon the observation that the few subjects studied all displayed a slightly atypical clinical presentation. The case now being presented exhibited the morphologic features ascribed to intestinal microvillous dystrophy but had a clinical presentation that was entirely typical of microvillous inclusion disease. It serves thus to conceptually unite intestinal microvillous dystrophy with microvillous inclusion disease.

Colon↗
PubMedDate not supplied

Neuroendocrine cells in the developing human lung: morphologic and functional considerations.

The structure, distribution, and frequency of neuroendocrine (NE) cells in human fetal lung from early stages of development to term are described. Neuroendocrine cells were studied by electron microscopy and immunostaining for serotonin and bombesin, recently identified markers of these cells in human lung. The differentiation of NE cells within the airway epithelium proceeded centrifugally and followed the development of the bronchial tree. The first NE cells, identified at 8 weeks' gestation, appeared well-differentiated compared with adjacent epithelial cells, and were immunoreactive for serotonin. The first bombesin-immunoreactive cells were detected at 10 weeks' gestation. Fetal lungs from midgestation contained several ultrastructurally distinct NE cell types, distributed singly and in groups. Serotonin-immunoreactive cells were more frequent during early stages of development and were predominantly located in larger airways. Bombesin-immunoreactive cells became more numerous towards term and were concentrated in small peripheral airways. The well-differentiated appearance and large number of NE cells in fetal lung, and their increase in number towards term, suggest an important role for these cells during intrauterine life and neonatal adaptation. Whether this role involves neurohormonal regulation of fetal-neonatal pulmonary circulation or local (paracrine) or endocrine function requires further investigation.

Bombesin↗