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This letter, published in the Egyptian Journal of Internal Medicine, discusses a rare case of sarcoidosis-associated endoluminal stenosis of proximal bronchi (ESPB) in a young male patient. Sarcoidosis is a granulomatous disease that primarily affects the lungs and lymphatic system. ESPB is a rare manifestation of sarcoidosis characterized by narrowing of the proximal airway. The patient was successfully managed with steroid therapy, avoiding the need for mechanical dilation of the airway. This case adds to the limited literature on the management of sarcoidosis-associated ESPB. [Extracted from the article]

With increasingly strict data management requirements from funding agencies and institutions, expanding focus on the challenges of research replicability, and growing data sizes and heterogeneity, new data needs are emerging in the materials community. The materials data facility (MDF) operates two cloud-hosted services, data publication and data discovery, with features to promote open data sharing, self-service data publication and curation, and encourage data reuse, layered with powerful data discovery tools. The data publication service simplifies the process of copying data to a secure storage location, assigning data a citable persistent identifier, and recording custom (e.g., material, technique, or instrument specific) and automatically-extracted metadata in a registry while the data discovery service will provide advanced search capabilities (e.g., faceting, free text range querying, and full text search) against the registered data and metadata. The MDF services empower individual researchers, research projects, and institutions to (I) publish research datasets, regardless of size, from local storage, institutional data stores, or cloud storage, without involvement of third-party publishers; (II) build, share, and enforce extensible domain-specific custom metadata schemas; (III) interact with published data and metadata via representational state transfer (REST) application program interfaces (APIs) to facilitate automation, analysis, and feedback; and (IV) access a data discovery model that allows researchers to search, interrogate, and eventually build on existing published data. We describe MDF's design, current status, and future plans. [ABSTRACT FROM AUTHOR]

This article discusses the method for examining the separation of human alpha antitrypsin I and III using affinity chromatography. In essential preliminary step in elucidating the molecular basis for such disease predisposition would be in the development of methods enabling the isolation of these proteins in sufficient quantity and in a pure form. The basic strategy involving simultaneous purification procedures depends on the lack of affinity of alpha antitrypsin for matrix-bound heparin. Since AT-III has 11% carbohydrate including mannose and glucose as constituent components, it is to be expected that AT-III would bind to con A column.

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The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component were activated. Phospholipase C, on the other hand, inactivated both the intact and the dissociated Factor-VIII molecule. Phospholipase D, however, had no effect on the haemophilic cryoprecipitate or the partially purified haemophilic Factor VIII. The implications of these results for the genetic control of the Factor-VIII molecule are discussed. In this connection, haemophilia A is hypothesized to be caused by an X-linked enzyme effect that impairs phospholipid assembly of the Factor-VIII protein, whereas von Willebrand's disease might be due to a structural defect of the Factor-VIII protein. [ABSTRACT FROM AUTHOR]

A distinct sub-group of von Willebrand's disease is characterized by an electrophoretically faster mobility of the factor VIII related antigen. Some of the physico-chemical properties of this variant antigen were investigated in this communication. The effect of temperature was tested by heating aliquots (0.5 ml) for 20 minutes at 45°C, 56°C and 65°C. The variant was found to be denatured at 56°C while the control was denatured at 65°C. The effect of pH was tested by assessing the quantity (Laurell technique) and electrophoretic mobility (two dimensional immunoelectrophoresis) of the antigen in a variety of buffers ranging in pH from 7.0 to 9.5. The quantity of antigen was variable both among variants and controls and the electrophoretic mobility of the variant antigen was faster at all pH's. Molecular weight differences between the variant and controls were not detected since the chromatographic profile of the variant was similar to that of the controls in Sepharose 6 B using a 0.02 M Tris-NaCl buffer at pH 7.0. The affinity of the antigen for human antibody was geterogeneous although the variant exhibited less affinity for one of the human antibodies but not the other. The inhibitory effect was more pronounced in serum than in plasma. Purified IgG, however, did not show any inhibition, as the residual antigen assayed by the Laurell technique, was similar to the expected values. This would imply that non-IgG plasmatic factors could also play a part in the observed inhibition. [ABSTRACT FROM AUTHOR]

The phenotypes of placental alkaline phosphatase were determined in a sample of 231 Germans and 109 non-Germans. The observed gene frequencies of the German sample were $${\text{Pl}}^{{\text{S}}_{\text{1}} } {\text{ = 0}}{\text{.654}}$$ , $${\text{Pl}}^{{\text{F}}_{\text{1}} } {\text{ = 0}}{\text{.247}}$$ , and $${\text{Pl}}^{{\text{I}}_{\text{1}} } {\text{ = 0}}{\text{.097}}$$ . No association could be found with placental weight. Lower birth weight was correlated with an increase of the $${\text{Pl}}^{{\text{I}}_{\text{1}} } $$ gene frequency. [ABSTRACT FROM AUTHOR]

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Copyright of Archiv für Dermatologische Forschung is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Humangenetik (00187348) is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We report the case of a child with severe hypertrophic cardiomyopathy, with decreased activity levels of cardiac mitochondrial respiratory complex I and III, and with a pronounced reduction in cardiac mitochondrial DNA copy number level. Mitochondrial DNA depletion has not been previously reported in hypertrophic cardiomyopathy and it may play a role in its pathogenesis. [ABSTRACT FROM AUTHOR]

An infant with Leigh syndrome and associated cardiomyopathy is described. Abnormal activities of mitochondrial respiratory complexes III and V and a change in mtDNA at nt 8993 were detected in heart and skeletal muscle but not in liver. [ABSTRACT FROM AUTHOR]

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17 examples of genetically controlled variation of LDH have been encountered in a survey of 1331 Indian blood samples collected in Calcutta and Madras. 15 of the variants (10 in Calcutta and 5 in Madras) were identical and have been given the trivial name 'Calcutta-1'. The other 2 examples were found in Madras and have been called 'Madras-1'. 'Calcutta-1' is an A-subunit variant, whilst 'Madras-1' is a B-subunit variant. The overall frequency of LDH variants in India (1.28 per cent) is among the highest reported for any population in the world. [ABSTRACT FROM AUTHOR]

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