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Studies on congenital anomalies in cattle

Sığırlarda konjenital anomaliler üzerine çalışmalar

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  1. Tez No: 766348
  2. Yazar: ZAFER USTA
  3. Danışmanlar: PROF. DR. PROF. DR. OTTMAR DİSTL
  4. Tez Türü: Doktora
  5. Konular: Veteriner Hekimliği, Veterinary Medicine
  6. Anahtar Kelimeler: Belirtilmemiş.
  7. Yıl: 2016
  8. Dil: İngilizce
  9. Üniversite: Stiftung Tierärztliche Hochschule Hannover
  10. Enstitü: Yurtdışı Enstitü
  11. Ana Bilim Dalı: Genetik Ana Bilim Dalı
  12. Bilim Dalı: Veteriner Bilim Dalı
  13. Sayfa Sayısı: 114

Özet

Bu tez, sığırlarda konjenital anomalilerin (doğumsal anormaliklerin) altında yatan olası nedenleri ayrıntılı bir şekilde açıklamak ve aydınlatmak amacı ile yapılmıştır. Bu çalışmada, toplam dokuz olgu kullanılmıştır. Birinci sunulan calışmada; 3 aylık dişi Alman Holştayn, ectopia cordis cervicalis inferior anomalisi görülen bir buzağıda anatomik, radyolojik, pedigri analizi ve sitogenetik araştırmaları yapılmıştır. Yapılan kromozom analizinde herhangi bir anormalliğe rastlanılmamıştır. Etkilenen buzağı için ortak atalardan gelen akrabalık katsayısı %2.49 dur. Ectopia cordis cervicalis inferior un ortak ebeveynlerden gelen çok nadir bir gen mutasyonu tarafından ya da anne babasının birinden gelen gonosal mutasyon ile oluşmuştur. İkinci olguda bir amorphous globosus durumu sunulmuştur. 3 yaşli Beyaz Galloway ırkı bir inek ikinci gebeliğinde ikiz olarak normal bir buzağı ve kusurlu amorphic diğer ikiz tekini dünyaya getirmiştir. Anne ve babadan gelen ortak atalar nedeniyle akrabalık katsayısı % 6.25 olarak ölçüldü. Bu rapor Beyaz galloway ırkı sığırda görülen ilk amorphus globosus vakası olup, patolojik, histopatolojik, radyolojik bulgular ve pedigri analizini icerir. Bir başka calışma da ise; atresia ani, hypospadi ve gelişmemiş dış genital organlar ile karakterize bir günlük erkek Alman Holstein ve hypospadi, gelismemis dış genital organlar ile karakterize altı aylık erkek Alman Holstein iki buzağıda yapılan klinik, patolojik, histopatolojik ve pedigri analizlerini içermektedir. Kromozomal anomaliye rastlanılmamıştır. Akrabalık katsayısı ilk buzağı için % 0.684, ikinci buzağı için %5.273 olarak hesaplanmıştır. Sonuç olarak iki olguda da kongenital anomalilerin oluşma nedeni olarak ortak atalardan transfer olan mutasyonlar neticesinde olabileceği kanısına varılmıştır. Bu olgu da ise vücudunun neredeyse tamamı tüysüz olan dişi Alman Holstein buzağı sunulmuştur. Virolojik muayene sonucunda BVD virusa rastlanılmadı. Akrabalık katsayısı % 1.074 olarak bulundu ve herhangi bir kromozomal anomaliye rastlanılmadı. Bu calışma da ataları ortak iki adet çok şiddetli damak yarığı vakası sunulmuştur. Yine her iki buzağının da ebeveynlerinden gelen ortak 4 atası mevcuttur. Bu ortak atalardan gelen genetik faktörler anomalilerin muhtemel nedeni olarak gözlemlenmektedir. İki günlük disi Alman Holştayn ikiz buzağı internal hidrosephalus, beyin atrofisi, beyincik hipoplazisi, boyun ve bas gögüs omurlarinda görülen syringomyeli, alt gögüs omurlarinda görülen hydromyeli, besinci ve yedinci gögüs omurlarinda kamburluk, cift tarafli keratitis iceren multiple anomaliler pozitif BVD ile ilişkili olarak sonuclanmıştır. Diğer erkek ikizinde ise yine pozitif BVD ile ilişkili kuyruk kısalığı görülmüştür. Buzağılarının annesi olan inekte de pozitif BVD virusu görülmüştür. Bu multiple anomalilerin nedeni olarak annenin gebeliğin erken döneminde BVD virus ile enfekte olması öngörülmüştür.

Özet (Çeviri)

The aim of this thesis was a detailed description of congenital anomalies and to elucidate possible underlying causes. In this work, a total of nine cases were processed. In the present study, an anatomical, radiological and cytogenetic examination as well as a pedigree analysis of a three-month-old female German Holstein calf with ectopia cordis cervicalis inferior (ECCI) was performed. The heart of the present case was ectopic and located in the enlarged cupula pleurae dextra in the caudoventral cervical region. Radiological examination showed that the base of the heart was approximately parallel to the longitudinal axis of the body. At the age of three months, the calf had developed a persistent and high-grade cough associated with an increased respiratory rate, a tachycardia and an increased internal body temperature. Because of the diagnosis of a severe bronchopneumonia, the calf was euthanized. Besides the ectopic heart, pathomorphological findings were a patent foramen ovale and a patent ductus arteriosus. Further anomalies of the blood vessels were for example, a modified branching pattern of the brachiocephalic trunk and a considerably elongated thoracic portion of the vena cava caudalis. The apertura thoracis cranialis was extremely wide and the sternum was broader than usual, especially the manubrium had an extraordinary width. Secondary findings were a pericarditis with pericardial effusion and a pleuritis. In the ECCI-calf, chromosomal abnormalities could not be detected in the metaphases (2n = 60,XX). The inbreeding coefficient for the affected calf was 2.49% due to a common ancestor. The ECCI probably resulted from a very rare mutation in the common ancestor or the germline in either one parent. In this article, a case of an amorphus globosus is presented. A three years old White Galloway dam gave birth to a normal calf and a malformed amorphic co-twin in her second pregnancy. The malformed co-twin was covered by a white hairy skin and had slightly flattened ovoid form of 21x10x6 cm in size and a weight of 1600 g. The present case had an umbilical cord like structure of 20 cm in length and 2-3 cm in diameter. A small opening, resembling an oral structure, contained a tongue-like structure with lips and three milk teeth. Histological examination showed a solid mass of connective tissue, skeletal muscles, lymphoid tissue, arterial vessels, glandular and focal cartilage tissue. The radiography clearly showed lower-upper jaw, small bones similar to a tail-like-structure and cartilage tissue. The inbreeding coefficient of the case was 6.25% due to a common ancestor on the maternal and paternal side. This is the first report on a case of amorphus globosus in White Galloway cattle including pathological, histopathological, radiological findings and pedigree analysis. In the present study, clinical, pathological, histopathological and cytogenetic examinations of a one-day-old male German Holstein calf with atresia ani, hypospadia and rudimentary external genitalia (HYP-AA) and a six-months-old male German Holstein calf with hypospadia and rudimentary external genitalia (HYP) are presented. In the first case (HYP-AA), an anal orifice was missing. The urethra opened in the perineum. As a consequence, the inguinal region was infiltrated with urine. A secondary finding was a vesicle at the anal area with a diameter of approximately 10 cm. Histopathological examination of the anal area of the HYP-AA-calf showed a necrotizing dermatitis with multifocal acute bleedings and diffuse oedema. In addition, an interstitial pneumonia and urethritis were identified. In the clinical examination of the second case (HYP), a penile and preputial aplasia, an incomplete ventral covering by skin and a bifid scrotum were found. Histopathological examination of the HYP-calf revealed a urethritis with epithelial hyperplasia in the urethra and a follicular hyperplasia of the lymph nodes. The HYP-calf had normally developed testicles. However, there was no active spermatogenesis. Tests for presence of bovine herpesvirus 1 (BHV-1), bovine viral diarrhea (BVD) virus, bluetongue virus 8 and parainfluenza virus 3 were negative in both calves. Chromosomal abnormalities could not be detected. The inbreeding coefficient for the HYP-AA-calf was 0.684% and for the HYP-calf 5.273% and both affected calves had one ancestor in common, a Holstein bull used in artificial insemination. In conclusion the congenital anomalies of the two cases might be due to mutations transmitted by the common ancestor. The present case was a nearly complete hairless female German Holstein calf. Clinical examination and necropsy were performed when the calf was six weeks old. The calf had conjunctivitis in both eyes, injuries, ulcer and edema at limb joints. Histopathological findings of the present case confirmed a general hypotrichosis, a segmental atrichosis and dermatitis. Further findings were hyperkeratosis, pneumonia, splenitis, glycogen storage in liver and hypoplasia of the thymus. The virological results were negative for bovine viral diarrhea (BVD) virus and antibody. The inbreeding coefficient for the affected calf was 1.074%, chromosomal anomalies were not found in the metaphases of the affected calf (2n=60,XX). In this study two calves with cleft palate extending over the full length of the osseous palate and common ancestors are presented. The first case, a female German Holstein calf was one month old at examination and showed a cleft palate, a right sided cleft lip and jaw, diverging rostral cerebral hemispheres, bulbi olfactorii and chiasma opticum and in addition, a meningocele on the left side of the face. The tongue of the calf hung down on left side. The second case was a male German Holstein, calf examined with an age of two months. This calf had a cleft palate (CP) extending over the entire length of the osseous palate. Other inborn organ defects could not be found in both calves. The calves originated from different dairy farms. Both calves suffered from a bronchopneumonia and in addition, the second case had a severe diarrhea. Both calves were negative for bovine viral diarrhea (BVD) virus antibody and antigen. Both calves had four common ancestors from either parent. The common ancestry may be indicative for genetic factors involved in the malformation observed in both cases. A two-days-old female German Holstein twin calf multiple malformations including hydrocephalus internus and atrophy of cerebellar hemispheres, hypoplasia of the cerebellum, syringomyelia in the cervical spinal cord and the cranial part of the thoracic spinal cord, hydromyelia in the caudal part of the thoracic spinal cord, scoliosis between the fifth and seventh thoracic vertebra and bilateral keratitis could be associated with a positive result for bovine viral diarrhoea (BVD) virus antibodies. Its male co-twin with brachyury was also positive for BVD virus antibodies as well as the dam of the twins. Infection by BVD virus in an early stage of the pregnancy may be assumed to be responsible for the multiple malformations in the female twin and the brachyury of the male co-twin.

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