Inherited Combined Factor Deficiency States

2014 ◽  
pp. 127-136 ◽  
Author(s):  
Asma Latif ◽  
Louis Aledort
Keyword(s):  
1964 ◽  
Vol 11 (02) ◽  
pp. 485-496 ◽  
Author(s):  
B. J Koszewski ◽  
H Vahabzadeh

SummaryA case of hypercoagulability syndrome in a 35 years old male is reported. An abnormal heparin resistance was found which could be defined by means of a heparin clot-inhibition test as a deficiency in heparin co-factor. The required anticoagulant doses of heparin were forty times as high as in cases with intact heparin co-factor. The factor seemed to be used up in the process of coagulation, as plasma, but not serum, was able to correct the deficiency in vitro. Plasma infusions were helpful for four days, but a complete recovery was achieved only after an intensive course of fever therapy.The phenomenon of blood clotting should be regarded as a dynamic process which is facilitated by an array of clot promoting factors and opposed by a system of natural anticoagulants.


1961 ◽  
Vol 05 (01) ◽  
pp. 093-096 ◽  
Author(s):  
F Nour-Eldin

SummaryThe clinical and laboratory findings in a case of Christmas factor deficiency associated with vascular abnormality are reported.The relation of this syndrome to Christmas disease and related conditions is discussed.


2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Esther K. Wolthuis ◽  
Alexander P. J. Vlaar ◽  
Goda Choi ◽  
Joris J. T. H. Roelofs ◽  
Marcel Levi ◽  
...  

Biomolecules ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 985
Author(s):  
Davide Corà ◽  
Federico Bussolino ◽  
Gabriella Doronzo

The oncogenic Transcription Factor EB (TFEB), a member of MITF-TFE family, is known to be the most important regulator of the transcription of genes responsible for the control of lysosomal biogenesis and functions, autophagy, and vesicles flux. TFEB activation occurs in response to stress factors such as nutrient and growth factor deficiency, hypoxia, lysosomal stress, and mitochondrial damage. To reach the final functional status, TFEB is regulated in multimodal ways, including transcriptional rate, post-transcriptional regulation, and post-translational modifications. Post-transcriptional regulation is in part mediated by miRNAs. miRNAs have been linked to many cellular processes involved both in physiology and pathology, such as cell migration, proliferation, differentiation, and apoptosis. miRNAs also play a significant role in autophagy, which exerts a crucial role in cell behaviour during stress or survival responses. In particular, several miRNAs directly recognise TFEB transcript or indirectly regulate its function by targeting accessory molecules or enzymes involved in its post-translational modifications. Moreover, the transcriptional programs triggered by TFEB may be influenced by the miRNA-mediated regulation of TFEB targets. Finally, recent important studies indicate that the transcription of many miRNAs is regulated by TFEB itself. In this review, we describe the interplay between miRNAs with TFEB and focus on how these types of crosstalk affect TFEB activation and cellular functions.


Blood ◽  
1960 ◽  
Vol 15 (6) ◽  
pp. 807-829 ◽  
Author(s):  
GIOVANNI RACCUGLIA ◽  
JAMES V. NEEL ◽  
Ruth T. Davidson ◽  
Mary Jane Ussery

Abstract 1. A kindred of 311 individuals, many members of which are affected by a hemorrhagic diathesis, has been described. 2. The variability in the manifestations of this diathesis is extreme. In its fullest expression the disease is characterized by a prolonged bleeding time with evidence of a morphologic defect in the platelets, and a deficiency in antihemophilic globulin. Some possibly affected individuals exhibit only a prolonged bleeding time, while, on the other hand, the clinically most severely affected individual, with AHF levels on several occasions of 5 to 10 per cent, has not been observed by us to have a prolonged bleeding time, although his platelets are morphologically abnormal. 3. Genetic analysis suggests that the hemorrhagic tendency is determined by a single dominant gene of variable penetrance and expressivity. 4. No satisfactory explanation can be developed on the basis of these studies for the association between platelet abnormality and AHF deficiency. More specifically, it is impossible to conclude whether the platelet defect is precursor to the AHF deficiency, or whether—as on a priori grounds seems less likely—this is an example of true genetic pleiotropy. 5. The terminologic chaos which afflicts the literature on hemorrhagic diatheses characterized by a prolonged bleeding time is discussed in the light of the findings in this one large kindred, and suggestions are advanced for minimizing confusion based on terminology alone.


Pathology ◽  
1984 ◽  
Vol 16 (3) ◽  
pp. 362-363
Author(s):  
M.G. Harris ◽  
T. Exner ◽  
K.A. Rickard ◽  
H. Kronenberg

Pathology ◽  
1981 ◽  
Vol 13 (3) ◽  
pp. 640-641
Author(s):  
J.M. Jackson ◽  
R.P. Herrmann ◽  
L. Marshall
Keyword(s):  

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