Brachydactyly and Pseudo-Pseudohypoparathyroidism

1968 ◽  
Vol 17 (3) ◽  
pp. 428-438 ◽  
Author(s):  
Keith P. Hertzog
Keyword(s):  
Middle Phalanx ◽  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epiphyseal Union ◽  
A Current ◽  
Little Finger

SummaryShortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.

THE ISSUE OF CONTEXT AND SOCIOLOGICAL POETICS OF THE "BAKHTIN'S CIRCLE"

2020 ◽  
pp. 10-18
Author(s):  
Grigorii I. Nesmeyanov ◽  
Keyword(s):  
Discourse Analysis ◽  
Intellectual History ◽  
Literary Theory ◽  
Philosophical Hermeneutics ◽  
Research Fields ◽  
Interdisciplinary Field ◽  
Scientific Disciplines ◽  
Methodological Approaches ◽  
A Current

The article formulates main questions related to the concept of context. The issue of context is considered as a current-day interdisciplinary field of research. There are many definitions of context in dictionaries and in various humanities (including scientific disciplines). In connection with that issue various methodological approaches arise in the humanities, which can be designated by the umbrella term “contextual”. By the example of one of such approaches to the sociological poetics of the “Bakhtin’s circle”, the author substantiates the possibility of creating an interdisciplinary classification of contextual approaches. That classification may include scientific developments of different years and research fields, including: philosophical hermeneutics, a number of approaches to the Russian and foreign literary theory (M.M. Bakhtin, Yu.M. Lotman, B.M. Eichenbaum, F. Moretti, A. Compagnon, etc.), intellectual history, discourse analysis, etc.

ALBRIGHT'S HEREDITARY OSTEODYSTROPHY

1980 ◽  
Vol 69 (3) ◽  
pp. 305-309 ◽  
Author(s):  
B. BOSCHERINI ◽  
G. COEN ◽  
G. BIANCHINI ◽  
G. GALLUCCI ◽  
P. BALLANTI ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy

Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy

1990 ◽  
Vol 322 (20) ◽  
pp. 1412-1419 ◽  
Author(s):  
Jennifer L. Patten ◽  
Donald R. Johns ◽  
David Valle ◽  
Charles Eil ◽  
Philip A. Gruppuso ◽  
...  
Keyword(s):  
Adenylate Cyclase ◽  
G Protein ◽  
Gene Encoding ◽  
Albright’S Hereditary Osteodystrophy ◽  
Stimulatory G Protein ◽  
Albright's Hereditary Osteodystrophy

scholarly journals Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

2007 ◽  
Vol 92 (6) ◽  
pp. 2370-2373 ◽  
Author(s):  
Guiomar Pérez de Nanclares ◽  
Eduardo Fernández-Rebollo ◽  
Izortze Santin ◽  
Beatriz García-Cuartero ◽  
Sonia Gaztambide ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epigenetic Defects

scholarly journals Classification of Evaluation Methods for the Effective Assessment of Simulation Games: Results from a Literature Review

2019 ◽  
Vol 9 (1) ◽  
pp. 19 ◽  
Author(s):  
Niluefer Deniz Faizan ◽  
Alexander Löffler ◽  
Robert Heininger ◽  
Matthias Utesch ◽  
Helmut Krcmar
Keyword(s):  
Literature Review ◽  
Current Trend ◽  
Evaluation Methods ◽  
Simulation Game ◽  
Simulation Games ◽  
Research Papers ◽  
Free Environment ◽  
Effective Assessment ◽  
A Current

As a current trend in teaching, simulation games play an active and important role in the area of technology-based education. Simulation games create an envi-ronment for scholars to solve real-world problems in a risk-free environment. Therefore, they aim to increase the knowledge base as well as learning experienc-es for students. However, assessing the effectiveness of a simulation game is necessary to optimize elements of the game and increase their learning effect. In order to achieve this aim, different evaluation methods exist, which do not always involve all phases when running a simulation game. In this study, we conduct a literature review to analyze evaluation methods for three phases of simulation games: pre-game, in-game, and post-game. Thirty-one peer-reviewed research papers met specified selection criteria and we classified them according to a di-dactic framework that illustrates four phases of running simulation games: Prepa-ration, Introduction, Interaction and Conclusion phase. Based on the results, we provide a concrete evaluation strategy that will be a guide to assess simulation games during all phases. This study contributes to theory by providing an over-view of evaluation methods for the assessment of simulation games within the different game phases. It contributes to practice by providing a concrete evalua-tion strategy that can be adapted and used to assess simulation games.

Pathology of Peripheral Nerve

2013 ◽  
pp. 313-342
Author(s):  
Jean-Michel Vallat ◽  
Douglas Anthony ◽  
Umberto De Girolami
Keyword(s):  
Peripheral Nerve ◽  
Systemic Vasculitis ◽  
Nerve Biopsy ◽  
Normal Morphology ◽  
Hematological Diseases ◽  
Hereditary Neuropathies ◽  
Classification Of Diseases ◽  
Inflammatory Neuropathies ◽  
A Current

This chapter gives a current classification of diseases of peripheral nerve and then describes and illustrates the pathology of peripheral nerve, particularly from the perspective of the nerve biopsy. After a description of the clinical indications for the biopsy, an introduction to the general laboratory techniques, and a brief review of the normal morphology of peripheral nerve, the general reactions of peripheral nerve to injury (primary axonal degeneration and primary segmental demyelination) are described. Neuropathies can be separated into acquired and hereditary neuropathies. Inflammatory neuropathies include immunopathological disorders of unknown cause (e.g. inflammatory demyelinating polyradiculoneuropathy), neuropathies due to infectious agents (e.g. leprosy), or those associated with systemic vasculitis. Neuropathy also occurs secondarily, in association with hematological diseases and neoplasms. Metabolic (diabetic) and toxic neuropathies are subsequently discussed. The chapter also gives an account of the importance of incorporating recent advances in molecular genetics in the evaluation of hereditary neuropathies (i.e. hereditary motor and sensory neuropathies, hereditary sensory and autonomic neuropathies, and familial amyloid polyneuropathies).

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