scholarly journals Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome

2021 ◽  
Vol 25 ◽  
pp. 200535
Author(s):  
Lanny T. DiFranza ◽  
Dong Chen ◽  
Charles C. Marboe ◽  
Alex J. Rai
2003 ◽  
Vol 8 (5) ◽  
pp. 4-12
Author(s):  
Lorne Direnfeld ◽  
James Talmage ◽  
Christopher Brigham

Abstract This article was prompted by the submission of two challenging cases that exemplify the decision processes involved in using the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides). In both cases, the physical examinations were normal with no evidence of illness behavior, but, based on their histories and clinical presentations, the patients reported credible symptoms attributable to specific significant injuries. The dilemma for evaluators was whether to adhere to the AMA Guides, as written, or to attempt to rate impairment in these rare cases. In the first case, the evaluating neurologist used alternative approaches to define impairment based on the presence of thoracic outlet syndrome and upper extremity pain, as if there were a nerve injury. An orthopedic surgeon who evaluated the case did not base impairment on pain and used the upper extremity chapters in the AMA Guides. The impairment ratings determined using either the nervous system or upper extremity chapters of the AMA Guides resulted in almost the same rating (9% vs 8% upper extremity impairment), and either value converted to 5% whole person permanent impairment. In the second case, the neurologist evaluated the individual for neuropathic pain (9% WPI), and the orthopedic surgeon rated the patient as Diagnosis-related estimates Cervical Category II for nonverifiable radicular pain (5% to 8% WPI).


2007 ◽  
Author(s):  
Victoria Reynolds ◽  
Margret E. Bell ◽  
Christina Boggs ◽  
Jennifer Alvarez

2012 ◽  
Vol 50 (05) ◽  
Author(s):  
Z Visnyei ◽  
E Schafer ◽  
K Kardos ◽  
L Szentpétery ◽  
A Iványi ◽  
...  

1979 ◽  
Vol 42 (02) ◽  
pp. 694-704 ◽  
Author(s):  
F Rendu ◽  
A T Nurden ◽  
M Lebret ◽  
J P Caen

SummaryWe have used the mepacrine-labelling procedure to measure the dense body (serotonin storage organelle) content of the platelets of 2 hereditary disorders where abnormalities in dense body number were suspected. The platelets were incubated with mepacrine and examined by fluorescence microscopy. A mean number of 5.4 ± 0.8 (SD) dense bodies per platelet was calculated from the data obtained using platelets isolated from 40 normal human subjects. In contrast the platelets of 2 patients with the Bernard-Soulier syndrome contained an average of 14 and 17 labelled granules. This increase was associated with a much greater capacity of the platelets to accumulate 14C-5-HT. The opposite result was obtained using the platelets from 2 patients with the Hermansky-Pudlak syndrome which contained few granules labelled by mepacrine and took up less 14C-5-HT than normal human platelets. Centrifugation of the patients’ platelets on discontinuous sucrose gradients showed that the platelets of the 2 Bemard-Soulier patients were much denser than normal whereas a high proportion of low density platelets was observed in the Hermansky-Pudlak syndrome. These results further define the platelet abnormalities in the two syndromes and suggest that dense body number may be one of the factors governing platelet density.


Author(s):  
Gordon Plant

Ocular myasthenia is not the most severe form of myasthenia but it might cause certain difficulties to diagnose. In this article, we shall discuss the clinical presentations of ocular myasthenia, its differential diagnostics, examinations and management. Keywords: ocular myasthenia gravis, diagnosis, examination, management.


2015 ◽  
Author(s):  
Darshi Sivakumaran ◽  
Eswari Chinnasamy ◽  
Aye Naing ◽  
Mohammad Ashraghi ◽  
Gul Bano

2012 ◽  
Vol 3 (7) ◽  
pp. 1-3
Author(s):  
Dr Govindaraja Dr Govindaraja ◽  
◽  
Dr Jashvanth Dr Jashvanth ◽  
Dr Murali Krishna ◽  
Dr Kasa Somasekhar ◽  
...  

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