Latest news with #VonWillebrand
Otago Daily Times
7 days ago
- Health
- Otago Daily Times
Dog genetic conditions identified
A working dog on a Pāmu farm. PHOTOS: SUPPLIED A genetic study of working farm dogs in New Zealand has revealed five significant inherited health conditions across the selected huntaway and heading dog populations. Pāmu chief executive Mark Leslie said in a statement the Massey University research team behind the "Right Dog for the Job" project had so far analysed the DNA of 249 farm dogs, most sourced from Pāmu farms. The study looks for genetic variants linked to disease, paving the way for better breeding practices and improved working dog health. Pāmu had encouraged its shepherds to get their dogs tested as part of the project, he said. "It's not only good for their breeding decisions, but ultimately building research and development of genetic information about working dogs will contribute to improving the health of farm dogs across the motu." The study had so far genome-sequenced 130 huntaways, 104 heading dogs and 15 mixed breeds. Researchers focused on 400 known genetic mutations previously reported in other dog breeds, pinpointing 27 variants present in New Zealand's farm dogs — five of which could lead to serious health issues. The five most notable genetic conditions found include: A new study shows inherited health conditions in working dogs. • Vitamin B12 deficiency (CUBN variant) — can cause poor growth and health if untreated (six carriers). • Neuronal ceroid lipofuscinosis (NCL) (CLN8 variant) — a severe brain disease leading to loss of movement, seizures and blindness (21 carriers). • Mucopolysaccharidosis IIIA (SGSH variant) — a rare neurological disorder affecting huntaways (five carriers). • Degenerative myelopathy (DM) (SOD1 variant) — a spinal cord disease that can result in progressive mobility loss (46 carriers, five affected dogs). • Von Willebrand disease (VWF variant) — a bleeding disorder that makes dogs vulnerable to excessive blood loss (nine carriers, one affected dog). Since the conditions were recessive, dogs carrying only one affected gene did not develop the disease. However, if two carriers were bred together, their puppies could be affected. The findings demonstrated the importance of genetic testing working dogs before breeding them, to avoid producing puppies with life-threatening conditions. The project team is continuing its research. Farmers have the opportunity to get their dogs tested, garrymainland@
Hans India
19-05-2025
- Health
- Hans India
Rare and life-threatening pregnancy combated with surgery
Mangaluru: In a remarkable medical achievement, Lady Goschen Hospital successfully performed a surgical delivery on a pregnant woman suffering from a rare and potentially fatal blood disorder. The procedure not only saved the mother's life but also ensured the safe birth of her child, setting a record in maternal healthcare, according to hospital superintendent Durgaprasad M.R. The woman was born with Haemophilia (Von Willebrand's disease), a hereditary bleeding disorder. She had been receiving treatment at private hospitals since childhood. Haemophilia, characterised by a deficiency of Factor 8, plays a critical role in blood clotting. Without proper management, bleeding episodes can be severe and life-threatening. The specific Factor 8 replacement therapy must be administered continuously through injections, which are costly and not easily accessible. Unfortunately, such rare conditions pose significant challenges, especially when treatment options are expensive and limited. The plasma-derived Factor 8 injections are expensive, and many families find it difficult to afford ongoing treatment. During her pregnancy, the woman's family was unable to bear the high costs of the required medication, which put her at risk of severe bleeding or even maternal this critical scenario, the medical team provided confidential counselling, explaining the gravity of her condition. Despite various family constraints, the woman was determined to deliver her baby and become a mother. The doctors accepted the challenge and successfully performed the delivery, saving her life. Dr. Durgaprasad explained that he maintained continuous contact with the blood bank at Venlak Hospital and, with the support and approval of senior health department officials, arranged for the woman to receive the necessary injections weekly. This treatment was continued throughout her pregnancy. Twenty days before her delivery date, the woman was admitted to the hospital. The hospital ensured the availability of Factor VIII (8) injections—totalling 25,000 units—sourced and supplied by the government. The surgical team, comprising expert obstetricians and gynaecologists including Dr. Anupama Rao, Dr. Siriganesh, Dr. Namita, Dr. Sumeesh Rao, and Dr. Ranjan, along with anesthesia specialists, performed the Caesarean section successfully. Postoperative care was provided for ten days, after which the woman was discharged in good health and has since returned home.
