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[PDF] Top 20 Severe Protein S Deficiency in a Newborn

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Severe Protein S Deficiency in a Newborn

Severe Protein S Deficiency in a Newborn

... Its therapy is similar to that for protein C deficiency with thrombotic episodes controlled by administration of plasma products containing the. missing protein[r] ... See full document

5

Anticoagulant Treatment With Rivaroxaban in Severe Protein S Deficiency

Anticoagulant Treatment With Rivaroxaban in Severe Protein S Deficiency

... Symptomatic newborns need long- term anticoagulation, and to date the recommended treatment is a vitamin K antagonist. However, despite main- taining an international normalized ratio of the prothrombin time range within ... See full document

7

Hereditary thrombophilia

Hereditary thrombophilia

... I deficiency while the other 14 had Type ...AT deficiency at 1/630 in the population ...AT deficiency itself, or in combination with other factors, would make a thromboembolic event likely in these ... See full document

17

INCREASED INCIDENCE OF SEVERE HYPERBILIRUBINEMIA AMONG NEWBORN CHINESE INFANTS WITH G-6-P D DEFICIENCY

INCREASED INCIDENCE OF SEVERE HYPERBILIRUBINEMIA AMONG NEWBORN CHINESE INFANTS WITH G-6-P D DEFICIENCY

... The daily total serum bilirubin values, mean ± standard deviation, for Chinese newborn infants with C-6-P D deficiency compared with those for.. prematur& and full-term’ Chinese infa[r] ... See full document

8

Use of human protein C concentrates in the treatment of patients with severe congenital protein C deficiency

Use of human protein C concentrates in the treatment of patients with severe congenital protein C deficiency

... 6 to 12 hours (next to heparin, cryoprecipitate, tissue plas- minogen activator and others), followed by substitution of human PC concentrate, as soon as diagnosis of severe PC deficiency was made and/or ... See full document

10

OBSCURE AND UNUSUAL EDEMA

OBSCURE AND UNUSUAL EDEMA

... minemia, severe nutritional deficiency with hypoproteinemia, protein-losing gastrc en- teropathies and hereditary angioneurotic edema have been discussed in the context of unusual and ob[r] ... See full document

25

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

... authors, suggests that there is shunting of blood toward the placenta via an abnormal abdominal artery arising from high up in the aorta. Such shunting, as described, leaves the caudal part of the embryo poorly perfused. ... See full document

5

Molecular genetics of palmitoyl protein thioesterase deficiency in the U S

Molecular genetics of palmitoyl protein thioesterase deficiency in the U S

... The current paper greatly expands the spectrum of PPT gene mutations, for a total of 21 to date. 19 different mutations were observed in our U.S. cohort, 14 of which have not been described previously. One nonsense ... See full document

11

The protein C pathway : linking inflammation and coagulation

The protein C pathway : linking inflammation and coagulation

... inherited deficiency states (Pabinger et al, 1992; Allaart et al, ...with severe meningococcaemia and purpura fulminans (group 1, figure ...lower protein C levels than those patients with milder ... See full document

121

Abnormal erythrocyte membrane protein pattern in severe megaloblastic anemia

Abnormal erythrocyte membrane protein pattern in severe megaloblastic anemia

... membrane protein pattern returned to ...B12 deficiency, and in severe iron deficiency anemia, the erythrocyte membrane protein pattern was ...membrane protein pattern of normal ... See full document

6

Severe Acquired Protein C Deficiency in Purpura Fulminans Associated With Disseminated Intravascular Coagulation: Treatment With Protein C Concentrate

Severe Acquired Protein C Deficiency in Purpura Fulminans Associated With Disseminated Intravascular Coagulation: Treatment With Protein C Concentrate

... usually seen in three clinical settings: (1) in the new- born period as a manifestation of homozygous pro- tein C deficiency, or rarely protein S deficiency13’14; (2) in individuals with[r] ... See full document

7

CASE PRESENTATION

CASE PRESENTATION

... • A case report by Milleret and colleagues describes 2 years of successful prophylaxis in a patient with neonatal severe protein C deficiency, using warfarin oral suspension. The international ... See full document

11

Long-term Subcutaneous Protein C Replacement in Neonatal Severe Protein C Deficiency

Long-term Subcutaneous Protein C Replacement in Neonatal Severe Protein C Deficiency

... administered protein C concentrate may be a good therapeutic tool for the long-term treatment of severe protein C ...studies, protein C activity levels can be much lower than ...with ... See full document

7

Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

... notypes are a result of a defect in one of the CD3 subunits. A search for a mutation in the gene encoding the CD3D chain was carried out on genomic DNA from the patients. A homozygous C279A substi- tution, which results ... See full document

7

Mice with a severe deficiency in protein C display prothrombotic and proinflammatory phenotypes and compromised maternal reproductive capabilities

Mice with a severe deficiency in protein C display prothrombotic and proinflammatory phenotypes and compromised maternal reproductive capabilities

... tration of hirudin to 12-week-old mice for 3 days. Mice treated with hirudin have a significant reduction in plasma thrombin activity as indicated by a 4-fold increase in aPTT compared with that of controls, at day 3 ... See full document

11

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

... Children with ADA SCID present within the first months of life with failure to thrive, life threatening infections and profound lymphopenia. Interstitial pneumonitis is a common feature and may be caused by a viral ... See full document

10

Distraction osteogenesis in a severe mandibular deficiency

Distraction osteogenesis in a severe mandibular deficiency

... In the treatment of the patient, distraction osteogenesis was preferred as orthognathic surgery has relapse risk in severe mandibular deficiencies requiring lengthening of the mandible more than 8–10 mm. Even when ... See full document

12

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

... pmol/mg protein per min) and microsomal enzyme protein mass was eightfold larger ...U/mg protein) in 11 controls than the average for two sitosterolemic liver ... See full document

10

GLUTAMIC-OXALACETIC TRANSAMINASE OF SERUM IN INFANCY AND CHILDHOOD

GLUTAMIC-OXALACETIC TRANSAMINASE OF SERUM IN INFANCY AND CHILDHOOD

... S-GOT in all cases of hemolytic disease of the newborn was within the normal range for the newborn period. S-GOT in three children with[r] ... See full document

7

Rapid Onset of Essential Fatty Acid Deficiency in the Newborn

Rapid Onset of Essential Fatty Acid Deficiency in the Newborn

... essential fatty acids (EFA), their levels in plasma phospholip ids, cholesterol esters, triglycerides, and free fatty acids were measured in five sick newborns.. Four patients were under[r] ... See full document

12

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