scholarly journals Biological Paternal Aunt

2020 ◽  
Author(s):  
Keyword(s):  
Paternal Aunt

THE CLINICAL IMPLICATIONS OF HEMOGLOBIN STRUCTURE

PEDIATRICS ◽  
1963 ◽  
Vol 31 (5) ◽  
pp. 780-785
Author(s):  
Park S. Gerald
Keyword(s):  
Incidental Finding ◽  
Chief Complaint ◽  
Clinical Implications ◽  
Dominant Inheritance ◽  
Successful Completion ◽  
Contributing Factors ◽  
Peripheral Neuritis ◽  
Paternal Aunt ◽  
The Many ◽  
And Training

I FEEL DEEPLY HONORED to be named as one of the recipients of the 1962 Mead Johnson Awards for research in pediatrics. I am grateful for this opportunity to express my indebtedness and gratitude to the many who have aided me, and especially to my sponsor, Dr. Louis K. Diamond. His unwavering confidence and unselfish support were major contributing factors toward the successful completion of these research efforts. Lack of time prevents me from giving an adequate list of those other teachers and associates who contributed significantly toward my research efforts and training, but time can never be so short as to prevent me from mentioning my stimulating and energetic co-worker, Dr. Mary Efron. I have saved to the last, mention of my wife, as she has so often cheerfully been the vital silent partner of experiments that seemed always to last "just a little longer" than I expected. In order to make this a coherent presentation, I am going to dwell solely upon the "Hb M diseases." This group of hemoglobinopathies is characterized by the presence of cyanosis in several generations of a given family, being transmitted as if determined by the presence of a single abnormal gene (i.e., "dominant" inheritance). In the first family of this disorder that came to our attention, the cyanosis was an incidental finding in a child whose chief complaint was an obscure peripheral neuritis. There seemed to be little relation between the peripheral neuritis and the cyanosis, since the child's brother, father, paternal aunt and other relatives also were cyanotic (Fig. 1), although lacking any neuritis.

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.

scholarly journals Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

2018 ◽  
Vol 2018 ◽  
Author(s):  
Syed Ali Imran ◽  
Khaled A Aldahmani ◽  
Lynette Penney ◽  
Sidney E Croul ◽  
David B Clarke ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Stop Codon ◽  
Positive Family History ◽  
Receptor Protein ◽  
List Type ◽  
Aryl Hydrocarbon ◽  
The Family ◽  
Paternal Aunt ◽  
History Of ◽  
Secondary Hypogonadism

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions. Unusual, previously not described AIP variant with loss of the stop codon. Phenocopy may occur in families with a disease-causing germline mutation.

scholarly journals Birthweight in offspring and cardiovascular mortality in their parents, aunts and uncles: a family-based cohort study of 1.35 million births

2019 ◽  
Vol 49 (1) ◽  
pp. 205-215
Author(s):  
Fareeha Shaikh ◽  
Marte Karoline Kjølllesdal ◽  
David Carslake ◽  
Camilla Stoltenberg ◽  
George Davey Smith ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cvd Risk Factors ◽  
Cvd Risk ◽  
Birth Registry ◽  
Nuclear Families ◽  
Hazard Ratios ◽  
Increased Risk ◽  
Paternal Aunt ◽  
Family Based ◽  
Cvd Mortality

Abstract Background A link between suboptimal fetal growth and higher risk of cardiovascular disease (CVD) is well documented. It has been difficult to assess the contribution of environmental versus genetic factors to the association, as these factors are closely connected in nuclear families. We investigated the association between offspring birthweight and CVD mortality in parents, aunts and uncles, and examined whether these associations are explained by CVD risk factors. Methods We linked Norwegian data from the Medical Birth Registry, the Cause of Death Registry and cardiovascular surveys. A total of 1 353 956 births (1967–2012) were linked to parents and one maternal and one paternal aunt/uncle. Offspring birthweight and CVD mortality association among all relationships was assessed by hazard ratios (HR) from Cox regressions. The influence of CVD risk factors on the associations was examined in a subgroup. Results Offspring birthweight was inversely associated with CVD mortality among parents and aunts/uncles. HR of CVD mortality for one standard deviation (SD) increase in offspring birthweight was 0.72 (0.69–0.75) in mothers and 0.89 (0.86–0.92) in fathers. In aunts/uncles, the HRs were between 0.90 (0.86–0.95) and 0.93 (0.91–0.95). Adjustment for CVD risk factors in a subgroup attenuated all the associations. Conclusions Birthweight was associated with increased risk of CVD in parents and in aunts/uncles. These associations were largely explained by CVD risk factors. Our findings suggest that associations between offspring birthweight and CVD in adult relatives involve both behavioural variables (especially smoking) and shared genetics relating to established CVD risk factors.

scholarly journals Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Alexander J. Williams ◽  
Emily S. Doherty ◽  
Michael H. Hart ◽  
Douglas J. Grider
Keyword(s):  
Frameshift Mutation ◽  
Multiple Endocrine Neoplasia Type ◽  
Gastric Wall ◽  
Neurofibromatosis Type ◽  
Cowden Syndrome ◽  
Pten Gene ◽  
Paternal Aunt ◽  
Minor Criteria ◽  
Posterior Gastric Wall

Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis. A diagnosis of diffuse ganglioneuromatosis is relevant for patient care because, unlike sporadic polypoid ganglioneuromas or ganglioneuromatous polyposis, most are syndromic. Diffuse ganglioneuromatosis is commonly associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2b, and Cowden Syndrome, one of the phenotypes of PTEN hamartoma tumor syndrome. The patient had the noted gastric diffuse ganglioneuromatosis, as well as other major and minor criteria for Cowden syndrome. Genetic testing revealed a novel frameshift mutation in the PTEN gene in the patient, her father, paternal aunt, and the aunt’s son who is a paternal first cousin of the patient.

scholarly journals Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern

Blood ◽  
1979 ◽  
Vol 54 (1) ◽  
pp. 46-53 ◽  
Author(s):  
A Girolami ◽  
G Cattarozzi ◽  
R Dal Bo Zanon ◽  
F Toffanin
Keyword(s):  
Human Brain ◽  
Prothrombin Time ◽  
Factor Vii ◽  
Bleeding Tendency ◽  
Laboratory Findings ◽  
Her Family ◽  
Laboratory Features ◽  
Paternal Aunt ◽  
Double Heterozygosity ◽  
Thromboplastin Factor

Abstract A new factor VII abnormality is presented. The propositus was a 9-yr- old child who presented a mild bleeding tendency characterized by epistaxis and easy bruising. The parents were not consanguineous, but they came from the same area. The laboratory features were mild prolongation of prothrombin time and P.P. test and normal partial thromboplastin and Stypven cephalin clotting times. The Thrombotest was moderately prolonged. Factor VII was 40%-50% of normal using rabbit or human brain thromboplastin, but only 13%-24% using ox brain thromboplastin. Factor VII cross-reacting material (CRM) was about 50% of normal. The father, a paternal aunt, and a paternal cousin showed similar clinical and laboratory findings. The brother of the propositus, the mother, and other members of her family showed about 50% factor VII activity and CRM and were considered to be heterozygotes for true factor VII deficiency. Similar findings were also present in the father and in the brother of the affected cousin. The defect in the propositus seems to consist of a double heterozygosity between abnormal factor VII and heterozygous factor VII true deficiency. The factor VII abnormality appears to consist of abnormal reactivity toward ox brain tissue thromboplastins and appears to be different from previously described factor VII abnormalities. The name factor VII Paudua2 is proposed for this condition.

The Stone Inscription of Tsogt Taij (Čoɣtu Tayiǰi)

2020 ◽  
pp. 3-5
Author(s):  
Brian Baumann
Keyword(s):  
English Translation ◽  
Late Summer ◽  
Yuan Dynasty ◽  
Dalai Lama ◽  
Paternal Aunt ◽  
The Yuan Dynasty

This chapter provides an English translation of the stone inscription of Čoγ‎tu Tayiǰi. Čoγ‎tu Tayiǰi was a Mongolian prince over the Khalkha people in what today is the country of Mongolia. He lived in the waning years of the Yuan Dynasty (1260–1635) and died patronizing Sakyapa Buddhism in war against rising Gèlukpa hegemony under the Fifth Dalai Lama and his benefactor, Güüshi Khan of the Oirad Qoshod clan. The inscription, said to have been composed by him upon ascending to the summit of a lofty mountain in the Khangai range during a hunting expedition, is an elegy of the Buddhist world, expressing love and longing for a paternal aunt who recently had moved to a faraway land. The poem is said to have been taken down by a page named Erke who was with him at the time (in the late summer of 1621) and then inscribed in stone a few years later (in 1624) by another page, this one named Dayičing, and a knight named Güyeng.

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)

2005 ◽  
Vol 132A (2) ◽  
pp. 164-170 ◽  
Author(s):  
Emily Chen ◽  
Michele A. Choe ◽  
William D. Loughman ◽  
Susan Covert ◽  
Sheila Bitts ◽  
...  
Keyword(s):  
Paternal Aunt
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