Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects

Author(s):  
Antonio Girolami ◽  
Elisabetta Cosi ◽  
Silvia Ferrari ◽  
Claudia Santarossa ◽  
Bruno Girolami
1976 ◽  
Vol 22 (10) ◽  
pp. 1644-1647 ◽  
Author(s):  
J M Eisenberg ◽  
S Goldfarb

Abstract A questionnaire indicating the presence of a history or physical findings consistent with liver desease or bleeding disorders was completed by house officers on 301 admissions to a Veterans Administration medical service. Each patient had prothrombin time determined on admission. Only two of 107 patients for whom the prothrombin time was measured as a screening test had an abnormal results and one of these was normal when repeated. Of 73 patients with a history of alcoholism but no other pertient case history or physical examination results, only one had an abnormal prothrombin time. Of the remaining 121 patients, who had a pertinent history or physical examination, 41 had an abnormal admission prothrombin time. We conclude that measurement of prothrombin time adds little additional information to that obtained by history and physical examination in screening for liver disease and coagulation defects unless the patient has specific clinical evidence of liver disease, anticoagulation, or other conditions predisposing to bleeding disorders.


1977 ◽  
Author(s):  
I.S. Chohan ◽  
I. Singh

Fifteen males, 19-45 years old, stationed between altitudes 3690 and 5540 m in the Western Himalayas who were frostbitten were studied within 24 hours of the injury and then 4 weeks and 1 year after for blood coagulation defects. The following disturbances were found: fibrinogen degradation products and factor VIII-related antigen were increased; fibrinogen, platelet counts and haematocrit were decreased; platelet adhesiveness was increased; euglobulin lysis time was prolonged; antithrombin III,α-1 antitrypsin and α-2 macroglobulin were markedly decreased; IgG and IgA immunoglobulins and cryoglobulins were increased; serum albumin was decreased and IgM immunoglobulin consumption was increased.These abnormalities increase platelet adhesiveness and diminish fibrinolytic activity and promote intravascular thrombosis.Furosemide increases fibrinolytic activity and suppresses platelet adhesiveness in vivo (I. Singh and I.S. Chohan, Int. J. Biometeor. 17, 73, 1973). Its use in the prevention of frostbite is under investigation.


BMJ ◽  
1975 ◽  
Vol 2 (5961) ◽  
pp. 43-43
Author(s):  
M. C. G. Israels

1986 ◽  
Vol 86 (3) ◽  
pp. 353-361 ◽  
Author(s):  
J.Derrell Clark ◽  
Craig E. Greene ◽  
Janet P. Calpin ◽  
Roger C. Hatch ◽  
Anant V. Jain

2000 ◽  
Vol 83 (02) ◽  
pp. 185-190 ◽  
Author(s):  
Mieke Dewerchin ◽  
Zhong Liang ◽  
Lieve Moons ◽  
Peter Carmeliet ◽  
Francis Castellino ◽  
...  

SummaryMice with a total deficiency in blood coagulation Factor X (FX) were generated by targeted replacement of an 18-kb fragment of the FX gene, comprising all exons encoding the mature FX protein, with a neor cassette. The genotype distribution among the offspring from heterozygous breeding pairs suggested that FX deficiency resulted in partial embryonic lethality, with approximately one-third of the FX −/− embryos dying around embryonic day (E) 11.5-12.5. Two of 44 non-resorbed FX −/− embryos analyzed at these stages showed signs of massive bleeding, one of which into the brain ventricles, but no histological defects in the vasculature of these embryos or their yolk sac were observed. The remainder of the FX −/− embryos appeared normal and survived to term, but the majority of neonates (90%) died within 5 days, most frequently from intraabdominal bleeding. The remaining FX −/− animals succumbed between postnatal day (P)5 and P20 with intraabdominal, subcutaneous, or intracranial bleeding or a combination thereof. The lethal phenotype of the FX −/− mice illustrates the importance of FX function in embryonic and postnatal survival and demonstrates that these mice serve as effective models of the bleeding disorders observed in severe FX deficiency in humans.


2019 ◽  
Vol 15 (02) ◽  
pp. 83-84
Author(s):  
A. A. Vagh ◽  
MJ Bharai ◽  
PG Dodiya

M Snakebite cases are more common in horses and dogs when compared to other animals such as cattle, sheep, and goats. Snake envenomation can be difficult to diagnose if the incident was not witnessed. Clinical signs may vary greatly depending on the species of snake involved, and the quantity and toxicity of the venom injected. Dogs are commonly presented with extensive edematous swelling, severe pain, ecchymosis, and discoloration of the skin in the affected area within several hours after the bite (Garg, 2002) The animals exhibit various symptoms like cardio-pulmonary dysfunction, local tissue damage, blood coagulation defects, ataxia etc, depending on type of snake bite (Bhardwaj, 2011). Systemic signs can vary and may include hypotension, shock, cardiac arrhythmias, bleeding disorders, ptyalism, nausea, vomiting, respiratory distress, mental confusion, rhabdomyolysis, and acute renal failure (Ananda et al., 2009). The snake bite with envenomation is a true emergency, and it needs rapid examination and prompt appropriate treatment. The current paper reports on the successful use of antihistamine together with anti-snake venoms, fluids, corticosteroids, and antibiotics with no untoward effects in a snake-bitten dog.


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