scholarly journals Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia)

2021 ◽  
Vol 25 (6) ◽  
pp. 652-660
Author(s):  
S. V. Nikitin ◽  
S. P. Knyazev ◽  
V. A. Trifonov ◽  
A. A. Proskuryakova ◽  
Yu. D. Shmidt ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Weight Bearing ◽  
Selection Effect ◽  
Incomplete Penetrance ◽  
Recessive Inheritance ◽  
Cytological Examination ◽  
Breeding Group ◽  
Visual Survey ◽  
Palmar Surface ◽  
Mini Pigs

The article describes a new phenomenon in the breeding group of mini-pigs at the Institute of Cytology and Genetics (ICG, Novosibirsk): polydactyly (extra digits), which is unusual because the additional digits are situated at the lateral surface of legs or at the lateral and medial ones. This anomaly was first found here in 2017 in adult animals intended for culling due to incorrect positioning of the legs caused by flexor tendon laxity and resulting in weight-bearing on the palmar surface of the proximal phalanges (“bear’s paw”). Therefore, the polydactyly of mini-pigs has a pronounced negative selection effect. A visual survey of the livestock was conducted, and a description of the detected anomaly was compiled. The polydactyly in mini-pigs is a stand-alone trait and is not part of any syndromes. Individuals with polydactyly may have extra digits either on pectoral or on pectoral and pelvic limbs. On thoracic limbs, there may be either one lateral digit or a lateral digit and a medially located rudimentary hooflet. On pelvic limbs, only lateral extra digits can occur. Anatomical and morphological analyses showed that the lateral extra digit is an anatomically complete (“mature”) structure, whereas the medial rudimentary digit consists of only a hooflet without other structures characteristic of normal digits. Cytological examination revealed no specific karyotypic features, except for Robertsonian translocation Rb 16;17 previously reported for the mini-pigs of the same livestock. Cytological findings indicated that the polydactyly and Robertsonian translocation are not linked genetically. Genealogical analysis and results of crosses are consistent with a working hypothesis of recessive inheritance of the trait. Overall, the study shows that this type of polydactyly is anatomically and morphologically unique and not typical of Sus scrofa. In this species, only polydactyly types with medial accessory toes have been described and are usually inherited as a dominant trait with incomplete penetrance. In our case, the results of test crosses indicate recessive inheritance of the trait with varying expression and incomplete penetrance, because of which poorly expressed phenotypes are not visually detectable.

Sole depth and weight-bearing characteristics of the palmar surface of the feet of feral horses and domestic Thoroughbreds

2011 ◽  
Vol 72 (6) ◽  
pp. 727-735 ◽  
Author(s):  
Brian A. Hampson ◽  
Alexandra D. Connelley ◽  
Melody A. de Laat ◽  
Paul C. Mills ◽  
Chris C. Pollitt
Keyword(s):  
Weight Bearing ◽  
Feral Horses ◽  
Palmar Surface

scholarly journals Breeding and selection of mini-pigs in the ICG SB RAS

2019 ◽  
Vol 22 (8) ◽  
pp. 922-930 ◽  
Author(s):  
S. V. Nikitin ◽  
S. P. Knyazev ◽  
K. S. Shatokhin ◽  
V. I. Zaporozhets ◽  
V. I. Ermolaev
Keyword(s):  
Phenotypic Diversity ◽  
Multiple Pregnancy ◽  
Live Weight ◽  
Weight Category ◽  
Breeding Group ◽  
Limit Value ◽  
Males And Females ◽  
Mini Pigs ◽  
Selection Group ◽  
Selection Of

The article considers methods used for breeding and selection of mini-pigs in the ICG, SB RAS, the theoretical justifcation of these methods and the purposes for which they are used. We showed the genealogical structure of the herd and the contribution of inbreeding to the genetic similarity of modern representatives of genealogical lines and families with the founders of the breeding group. We characterized the phenotypic diversity of the ICG mini-pigs in colours, weight categories, types of growth and features of constitution. We listed measures supporting genetic diversity in the herd of the ICG mini-pigs. We explained the possibility of using similarity indices calculated by using portions of the ancestors’ blood (genome) for the selection of parental pairs and the evaluation of genetic consolidation of the herd. We showed that the average index of similarity between males and females, calculated by using portions of the ancestors’ blood, in the ICG minipigs is close to the limit value. It turned out that effective evaluation of the genetic potential of mini-pigs in growth rate and fnal size of individuals is only possible under the condition of a rich and full feeding of young animals. The time scale of estimation of growth of live weight of the ICG mini-pigs for three weight categories allocated in the selection group is presented. The types of growth and development of mini-pigs observed in the ICG breeding group and the type inherent to individuals in the small weight category are considered. We justifed the minimum live weight of a newborn piglet in the herd of the ICG mini-pigs. Values of optimal multiple pregnancy for the three categories of ICG mini-pig sows were calculated.

The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia

EP Europace ◽  
2020 ◽  
Vol 22 (12) ◽  
pp. 1880-1884
Author(s):  
Yanmin Zhang ◽  
Xiaomin Li ◽  
Ying Yang ◽  
Jie Wang ◽  
Xinru Gao ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Autosomal Dominant Inheritance ◽  
Incomplete Penetrance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Heterozygous Variant ◽  
Bilateral Sensorineural Hearing Loss ◽  
Electrocardiogram Ecg

Abstract Aims We report clinical and molecular analysis of an infant presenting with foetal bradycardia and clinical outcome of Jervell and Lange-Nielsen syndrome (JLNS). Methods and results Clinical, electrocardiogram (ECG), and echocardiographic data were collected from members in a three-generation family. Whole exomes were amplified and sequenced for proband. The identified variants were verified in the remaining members. The pathogenicity of candidate variants was predicted using multiple software programmes. A 28-year-old non-consanguineous Chinese woman at 23 weeks’ gestation presenting with sustained foetal bradycardia of 100 b.p.m. Immunological disorders and infection were excluded. The infant was delivered at 37 weeks’ gestation with 2700-g birthweight. QTc was prolonged in both ECG and Holter recording. Hearing tests confirmed bilateral sensorineural hearing loss. Genetic testing demonstrated that the infant carried a novel frameshift c.431delC (p.I145Sfs*92) and a novel nonsense c.1175G>A (p.W392X) compound variants of KCNQ1 inherited from mother and father, respectively, in autosomal recessive inheritance. Only relative II-5 carrying heterozygous KCNQ1-I145Sfs*92 variant had prolonged QTc, while the other carriers did not have prolonged QT, suggesting an autosomal dominant inheritance of LQT1 phenotype with incomplete penetrance in the family. Conclusion We report the novel frameshift KCNQ1-I145Sfs*92 and nonsense KCNQ1-W392X compound variants in autosomal recessive inheritance that caused JLNS presenting as sustained foetal bradycardia for the first time. Meanwhile, KCNQ1-I145Sfs*92 heterozygous variant demonstrated LQT1 phenotype in autosomal dominant inheritance with incomplete penetrance.

Single Hemicerclage for Lateral Type B Malleolar Fracture - A Novel, Minimal and Reliable Osteosynthesis

Swiss Surgery ◽  
2003 ◽  
Vol 9 (6) ◽  
pp. 283-288
Author(s):  
Maurer ◽  
Stamenic ◽  
Stouthandel ◽  
Ackermann ◽  
Gonzenbach
Keyword(s):  
Ankle Joint ◽  
Weight Bearing ◽  
Fracture Type ◽  
Type B ◽  
Malleolar Fracture ◽  
Metallic Wire ◽  
Long Term Outcome ◽  
X Ray ◽  
Upper Ankle Joint ◽  
Upper Ankle

Aim of study: To investigate the short- and long-term outcome of patients with isolated lateral malleolar fracture type B treated with a single hemicerclage out of metallic wire or PDS cord. Methods: Over an 8-year period 97 patients were treated with a single hemicerclage for lateral malleolar fracture type B and 89 were amenable to a follow-up after mean 39 months, including interview, clinical examination and X-ray controls. Results: The median operation time was 35 minutes (range 15-85 min). X-ray controls within the first two postoperative days revealed an anatomical restoration of the upper ankle joint in all but one patient. The complication rate was 8%: hematoma (2 patients), wound infection (2), Sudeck's dystrophy (2) and deep vein thrombosis (1). Full weight-bearing was tolerated at median 6.0 weeks (range 2-26 weeks). No secondary displacement, delayed union or consecutive arthrosis of the upper ankle joint was observed. All but one patient had restored symmetric joint mobility. Ninety-seven percent of patients were satisfied or very satisfied with the outcome. Following bone healing, hemicerclage removal was necessary in 19% of osteosyntheses with metallic wire and in none with PDS cord. Conclusion: The single hemicerclage is a novel, simple and reliable osteosynthesis technique for isolated lateral type B malleolar fractures and may be considered as an alternative to the osteosynthesis procedures currently in use.

Force Plate Analysis of Dogs with Bilateral Hip Dysplasia Treated with a Unilateral Triple Pelvic Osteotomy: A Long-term Review of Cases

1998 ◽  
Vol 11 (02) ◽  
pp. 85-93 ◽  
Author(s):  
Joanne R. Cockshutt ◽  
H. Dobson ◽  
C. W. Miller ◽  
D. L. Holmberg ◽  
Connie L. Taves ◽  
...  
Keyword(s):  
Gait Analysis ◽  
Hip Dysplasia ◽  
Weight Bearing ◽  
Force Plate ◽  
Case Series ◽  
Pelvic Osteotomy ◽  
Vertical Force ◽  
Long Term Outcome ◽  
Case Series Study

SummaryA retrospective case series study was done to determine the long-term outcome of operations upon dogs treated for canine hip dysplasia by means of a triple pelvic osteotomy (TPO). Twentyfour dogs with bilateral hip dysplasia, that received a unilateral TPO between January 1988 and June 1995, were re-examined at the Ontario Veterinary College. The assessment included physical, orthopedic and lameness examinations, standard blood work, pelvic radiographs and force plate gait analysis. They were compared to bilaterally dysplastic dogs that had not been treated, and also to normal dogs. Force plate data analysis demonstrated a significant increase in peak vertical force (PVF) and mean vertical force over stance (MVF) in the limb that underwent surgical correction by means of a TPO, when compared to the unoperated hip. It was determined that performing a unilateral TPO on a young dysplastic dog resulted in greater forces and weight bearing being projected through the TPO corrected limb when compared to the unoperated limb.Dogs with bilateral hip dysplasia treated with a unilateral triple pelvic osteotomy (TPO) were assessed by force plate gait analysis, radiographs and orthopedic examination. There was a significant increase in hip Norberg angles over time, although degenerative changes did progress. Limbs that had been operated upon had significantly greater peak and mean ground reaction forces than limbs that had not received an operation.

New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

1968 ◽  
Vol 20 (03/04) ◽  
pp. 534-541 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

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