Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A

Blood ◽  
1977 ◽  
Vol 49 (4) ◽  
pp. 607-618 ◽  
Author(s):  
ME Eyster ◽  
RL Ladda ◽  
HS Bowman
Keyword(s):  
Hemophilia A ◽  
Postoperative Bleeding ◽  
Hemorrhagic Diathesis ◽  
Normal Range ◽  
Paternal Aunt ◽  
History Of ◽  
Paternal Grandmother ◽  
Low Levels ◽  
Lyon Hypothesis ◽  
Successive Generations

Abstract Two unrelated families are described with mild hemophilia A in whom six obligate carriers had unusually low VIII AHF levels. In each family, successive generations of males were affected with hemophilia A as determined by low VIII AHF in the presence of normal VIII AGN and VIII VWF levels. In the first family, two of five obligate carriers had low VIII AHF levels associated with clinical bleeding and one other had a history of bleeding. While receiving oral contraceptives, one of these two carriers was found to have a normal VIII AHF level. In the second family, four cousins below age 10 who were obligate carriers had significantly low VIII AHF levels, while a paternal aunt and paternal grandmother who were also obligate carriers had VIII AHF levels within the normal range. Hemorrhagic diathesis in multiple obligate carriers in these families is not readily explained by the Lyon hypothesis, and suggests that these families may be exmaples of an unusual allelic form of hemophilia A or that they may be transmitting several independent genes affecting VIII AHF levels. Our experience suggests that VIII AHF levels should be determined on all obligate or possible carriers prior to surgery to identify those individuals at risk for postoperative bleeding. Furthermore, it is suggested that hormonal therapy might be effective in the management of carriers with low levels of VIII AHF and clinical bleeding.

scholarly journals Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A

Blood ◽  
1977 ◽  
Vol 49 (4) ◽  
pp. 607-618
Author(s):  
ME Eyster ◽  
RL Ladda ◽  
HS Bowman
Keyword(s):  
Hemophilia A ◽  
Postoperative Bleeding ◽  
Hemorrhagic Diathesis ◽  
Normal Range ◽  
Paternal Aunt ◽  
History Of ◽  
Paternal Grandmother ◽  
Low Levels ◽  
Lyon Hypothesis ◽  
Successive Generations

Two unrelated families are described with mild hemophilia A in whom six obligate carriers had unusually low VIII AHF levels. In each family, successive generations of males were affected with hemophilia A as determined by low VIII AHF in the presence of normal VIII AGN and VIII VWF levels. In the first family, two of five obligate carriers had low VIII AHF levels associated with clinical bleeding and one other had a history of bleeding. While receiving oral contraceptives, one of these two carriers was found to have a normal VIII AHF level. In the second family, four cousins below age 10 who were obligate carriers had significantly low VIII AHF levels, while a paternal aunt and paternal grandmother who were also obligate carriers had VIII AHF levels within the normal range. Hemorrhagic diathesis in multiple obligate carriers in these families is not readily explained by the Lyon hypothesis, and suggests that these families may be exmaples of an unusual allelic form of hemophilia A or that they may be transmitting several independent genes affecting VIII AHF levels. Our experience suggests that VIII AHF levels should be determined on all obligate or possible carriers prior to surgery to identify those individuals at risk for postoperative bleeding. Furthermore, it is suggested that hormonal therapy might be effective in the management of carriers with low levels of VIII AHF and clinical bleeding.

Hereditary Heparin Cofactor II Deficiency and the Risk of Development of Thrombosis

1987 ◽  
Vol 57 (02) ◽  
pp. 196-200 ◽  
Author(s):  
R M Bertina ◽  
I K van der Linden ◽  
L Engesser ◽  
H P Muller ◽  
E J P Brommer
Keyword(s):  
Liver Disease ◽  
Venous Thrombosis ◽  
Healthy Volunteers ◽  
Mean Value ◽  
Age Group ◽  
Normal Range ◽  
Heparin Cofactor Ii ◽  
History Of ◽  
Group 2 ◽  
Hereditary Nature

SummaryHeparin cofactor II (HC II) levels were measured by electroimmunoassay in healthy volunteers, and patients with liver disease, DIC, proteinuria or a history of venous thrombosis. Analysis of the data in 107 healthy volunteers revealed that plasma HC II increases with age (at least between 20 and 50 years). HC II was found to be decreased in most patients with liver disease (mean value: 43%) and only in some patients with DIC. Elevated levels were found in patients with proteinuria (mean value 145%). In 277 patients with a history of unexplained venous thrombosis three patients were identified with a HC II below the lower limit of the normal range (60%). Family studies demonstrated hereditary HC II deficiency in two cases. Among the 9 heterozygotes for HC II deficiency only one patient had a well documented history of unexplained thrombosis. Therefore the question was raised whether heterozygotes for HC II deficiency can also be found among healthy volunteers. When defining a group of individuals suspected of HC II deficiency as those who have a 90% probability that their plasma HC II is below the 95% tolerance limits of the normal distribution in the relevant age group, 2 suspected HC II deficiencies were identified among the healthy volunteers. In one case the hereditary nature of the defect could be established.It is concluded that hereditary HC II deficiency is as prevalent among healthy volunteers as in patients with thrombotic disease. Further it is unlikely that heterozygosity for HC II deficiency in itself is a risk factor for the development of venous thrombosis.

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

1985 ◽  
Vol 54 (04) ◽  
pp. 744-745 ◽  
Author(s):  
R Vikydal ◽  
C Korninger ◽  
P A Kyrle ◽  
H Niessner ◽  
I Pabinger ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Antithrombin Iii ◽  
Positive Family History ◽  
Normal Range ◽  
The Family ◽  
History Of ◽  
Antithrombin Iii Deficiency ◽  
Recurrent Venous Thrombosis ◽  
Antithrombin Iii Activity ◽  
Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

Recovery of thyroid function with a decreased titre of antimicrosomal antibody in a hypothyroid man with Hashimoto's thyroiditis

1983 ◽  
Vol 102 (4) ◽  
pp. 531-534 ◽  
Author(s):  
Makiko Yamamoto ◽  
Kazuro Kaise ◽  
Hirofumi Kitaoka ◽  
Katsumi Yoshida ◽  
Nobuko Kaise ◽  
...  
Keyword(s):  
Hashimoto’S Thyroiditis ◽  
Serum Levels ◽  
Hashimoto's Thyroiditis ◽  
Thyroid Peroxidase ◽  
Normal Range ◽  
Surgical Biopsy ◽  
Low Levels ◽  
Serum Thyroid Hormones ◽  
Antimicrosomal Antibody ◽  
Serum Tsh

Abstract. A 36 year old man with a diffuse goitre, signs of mild hypothyroidism, strikingly low levels of T4 (0.9 μg/dl) and T3 (24 ng/dl), elevated TSH (140 μU/ml) and elevated microsomal haemagglutination antibody (MCHA, 1:409 600), subsequently became non-goitrous and euthyroid with a decreased titre of antimicrosomal antibody without any medication. At the time of surgical biopsy, serum levels of T4 and T3 had risen to the normal range (4.6 μg/dl and 73 ng/dl, respectively), serum TSH had decreased to 30 μU/ml and the titre of MCHA to 1:25 600. Thyroid specimens showed Hashimoto's thyroiditis. The activity of thyroid peroxidase (TPO) was normal. The latest examination, 1 year and 3 months after initial evaluation, showed that the patient remained euthyroid with no goitre, that serum thyroid hormones were within the normal range (T4 7.7 μg/dl and T3 97 ng/dl), and that TSH was not detectable. The titre of MCHA decreased strikingly to 1:400.

Stapled Surgery for Hemorrhoidal Prolapse: From the Beginning to the Modern Times

2020 ◽  
Vol 15 ◽  
Author(s):  
Alessandro Sturiale ◽  
Bernardina Fabiani ◽  
Claudia Menconi ◽  
Danilo Cafaro ◽  
Felipe Celedon Porzio ◽  
...  
Keyword(s):  
Postoperative Bleeding ◽  
Invasive Procedure ◽  
High Volume ◽  
Normal Mucosa ◽  
Stapled Hemorrhoidopexy ◽  
Wound Complications ◽  
Rectal Intussusception ◽  
Stapler Technique ◽  
History Of ◽  
Hemorrhoidal Prolapse

Introduction: Hemorrhoidal disease is the most common proctologic condition in adults. Among the different surgical procedures, one of the greatest innovations is represented by the stapled hemorrhoidopexy. The history of this technique started with a single stapler use passing thorough a double stapler technique to resect the adequate amount of prolapse, finally arriving to the use of high volume devices. Methods: Nevertheless each device has its own specific feature, the stapler is basically made up with one or more circular lines of titanium staples whose height may be variable. The procedure is based on different steps: Introduction of the CAD, evaluation of the prolapse, fashioning purse string or parachute suture, introduction of the stapler head beyond the suture, pull the wires through the window, close the stapler and keep pulled the wires of the suture held together with a forcep, fire using two hands, open the stapler and remove it and check the staple line and then check the specimen. One of the latest innovations in stapled surgery the Tissue Selective Therapy. It is a minimally invasive procedure in which there is a partial circular stapled hemorrhoidopexy focused on the prolapsing piles with bridges of normal mucosa left. Results: Several studies have reported that SH is a safe and effective procedure to treat the hemorrhoidal prolapse. It is a quicker procedure with a shorter hospital stay and earlier return to work if compared with the conventional treatment. This is due to a less postoperative pain, postoperative bleeding, wound complications and constipation. Furthermore, the first generation devices had worse outcomes if compared with those of the new generation stapler that showed lower postoperative complication rate with better anatomical and symptomatic results. Conclusions: Stapled procedure for the treatment of symptomatic hemorrhoidal prolapse represents one of the most important innovations in proctology of the last century bringing with it the new revolutionary concept of the rectal intussusception as a determining factor involved in the natural history of the disease. Stapled hemorrhoidopexy marked an era in which the surgeon may to offer to the patients a safe, effective treatment with less pain and fast recovery.

Population Genetics ofCaenorhabditis elegans: The Paradox of Low Polymorphism in a Widespread Species

Genetics ◽  
2003 ◽  
Vol 163 (1) ◽  
pp. 147-157 ◽  
Author(s):  
Arjun Sivasundar ◽  
Jody Hey
Keyword(s):  
Genetic Variation ◽  
Microsatellite Loci ◽  
Population Expansion ◽  
Widespread Species ◽  
C Elegans ◽  
Model Research ◽  
The World ◽  
Natural Isolates ◽  
History Of ◽  
Low Levels

AbstractCaenorhabditis elegans has become one of the most widely used model research organisms, yet we have little information on evolutionary processes and recent evolutionary history of this widespread species. We examined patterns of variation at 20 microsatellite loci in a sample of 23 natural isolates of C. elegans from various parts of the world. One-half of the loci were monomorphic among all strains, and overall genetic variation at microsatellite loci was low, relative to most other species. Some population structure was detected, but there was no association between the genetic and geographic distances among different natural isolates. Thus, despite the nearly worldwide occurrence of C. elegans, little evidence was found for local adaptation in strains derived from different parts of the world. The low levels of genetic variation within and among populations suggest that recent colonization and population expansion might have occurred. However, the patterns of variation are not consistent with population expansion. A possible explanation for the observed patterns is the action of background selection to reduce polymorphism, coupled with ongoing gene flow among populations worldwide.

scholarly journals The Relationship between Scapular Upward Rotation and Shoulder Internal and External Rotation Isokinetic Strength in Professional Baseball Pitchers

Healthcare ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 759
Author(s):  
Byung Gon Kim ◽  
Seung Kil Lim ◽  
Sunga Kong
Keyword(s):  
External Rotation ◽  
Professional Baseball ◽  
Isokinetic Strength ◽  
Strength Ratio ◽  
Shoulder Injury ◽  
Isokinetic Dynamometer ◽  
Normal Range ◽  
History Of ◽  
Baseball Pitchers ◽  
The Relationship

This study aims to assess the relationship between scapular upward rotation (SUR) across varying humeral-elevation angles (HEAs) and shoulder isokinetic strength and ratio in professional baseball pitchers. The subjects were professional baseball pitchers (n = 16) without a history of shoulder injury in the last six months. The subject’s SUR angles were measured with the humerus elevated at HEAs of 0° (at rest), 60°, 90°, and 120° to the scapular plane. Shoulder isokinetic strength was evaluated for shoulder internal rotation (IR) and external rotation (ER) strength (PT%BW and TW%BW), and the ER/IR strength ratios were determined at 60, 120 and 180°/s using an isokinetic dynamometer. The SUR angle at an HEA of 0° was positively correlated with IR strength at 120°/s (r = 0.535) and 180°/s (r = 0.522). The SUR angle at an HEA of 60° was negatively correlated with the ER/IR strength ratios at 60°/s (r = −0.505) and 120°/s (r = −0.500). The SUR angle at an HEA of 90° was negatively correlated with the ER/IR strength ratios at 60°/s (r = −0.574; r = −0.554) and 120°/s (r = −0.521; r = −0.589) as well as with ER strength at 180°/s (r = −0.591, r = −0.556). The SUR angle at an HEA of 120° was negatively correlated with ER strength at 60°/s (r = −0.558), 120°/s (r = −0.504; r = −0.524), and 180°/s (r = −0.543) and the ER/IR strength ratio at 60°/s (r = −0.517). In this study, we found that the ratio of isokinetic strength between ER and IR became closer to the normal range on increasing the SUR angle. In particular, an HEA of 90°, which resembles the pitching motion, showed a clear relationship between SUR, shoulder ER, and the ratio of ER/IR isokinetic strength in professional baseball pitchers.

scholarly journals Clinical Study of Postoperative Bleeding after Tonsillectomy in 497 Cases

2021 ◽  
Vol 4 (01) ◽  
pp. e17-e20
Author(s):  
Takeshi Tanaka ◽  
Kenji Ishii ◽  
Kyoko Matsumoto ◽  
Koushirou Miura ◽  
Ayako Kihara ◽  
...  
Keyword(s):  
Risk Factors ◽  
Body Mass Index ◽  
Clinical Study ◽  
General Anesthesia ◽  
Retrospective Analysis ◽  
Body Mass ◽  
Smoking Habit ◽  
Postoperative Bleeding ◽  
Operation Time ◽  
History Of

AbstractWe conducted a retrospective analysis of 497 patients who underwent tonsillectomy at Kamio Memorial Hospital from September 2015 to August 2018. A total of 35 cases (7.0%) developed postoperative bleeding and three cases (0.6%) needed a second operation under general anesthesia to stop the bleeding. Postoperative bleeding most frequently occurred between 24 hours and 6 days after the operation. The incidence of postoperative bleeding was significantly higher in males and in patients aged 20 to 39 years old. The operation time, body mass index, smoking habit, and history of hypertension were not identified as clinical risk factors for bleeding after tonsillectomy in this study.

Incidence of factor VIII inhibitors throughout life in severe hemophilia A in the United Kingdom

Blood ◽  
2011 ◽  
Vol 117 (23) ◽  
pp. 6367-6370 ◽  
Author(s):  
Charles R.M. Hay ◽  
Ben Palmer ◽  
Elizabeth Chalmers ◽  
Ri Liesner ◽  
Rhona Maclean ◽  
...  
Keyword(s):  
United Kingdom ◽  
Factor Viii ◽  
Hemophilia A ◽  
Interquartile Range ◽  
Severe Hemophilia ◽  
The United Kingdom ◽  
Potential Risk Factors ◽  
History Of ◽  
Previously Treated Patients ◽  
Adjusted Incidence

Abstract The age-adjusted incidence of new factor VIII inhibitors was analyzed in all United Kingdom patients with severe hemophilia A between 1990 and 2009. Three hundred fifteen new inhibitors were reported to the National Hemophilia Database in 2528 patients with severe hemophilia who were followed up for a median (interquartile range) of 12 (4-19) years. One hundred sixty (51%) of these arose in patients ≥ 5 years of age after a median (interquartile range) of 6 (4-11) years' follow-up. The incidence of new inhibitors was 64.29 per 1000 treatment-years in patients < 5 years of age and 5.31 per 1000 treatment-years at age 10-49 years, rising significantly (P = .01) to 10.49 per 1000 treatment-years in patients more than 60 years of age. Factor VIII inhibitors arise in patients with hemophilia A throughout life with a bimodal risk, being greatest in early childhood and in old age. HIV was associated with significantly fewer new inhibitors. The inhibitor incidence rate ratio in HIV-seropositive patients was 0.32 times that observed in HIV-seronegative patients (P < .001). Further study is required to explore the natural history of later-onset factor VIII inhibitors and to investigate other potential risk factors for inhibitor development in previously treated patients.

scholarly journals Between communism and capitalism: long-term inequality in Poland, 1892–2015

2021 ◽  
Author(s):  
Paweł Bukowski ◽  
Filip Novokmet
Keyword(s):  
Household Survey ◽  
National Accounts ◽  
Capital Income ◽  
Sharp Rise ◽  
Long Run ◽  
History Of ◽  
Low Levels ◽  
Distribution Of Income

AbstractWe construct the first consistent series on the long-term distribution of income in Poland by combining tax, household survey and national accounts data. We document a U-shaped evolution of inequalities from the end of the nineteenth century until today: (1) inequality was high before WWII; (2) abruptly fell after the introduction of communism in 1947 and stagnated at low levels during the whole communist period; (3) experienced a sharp rise with the return to capitalism in 1989. We find that official survey-based measures strongly under-estimate the rise in inequality since 1989. Our results highlight the prominent role of capital income in driving the U-shaped evolution of top income shares. The unique inequality history of Poland speaks to the central role of institutions and policies in shaping inequality in the long run.

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