Studio delle patologie renali del cane

This study selected 40 canine patients with signalement, anamnesis, lab exams and renal biopsy or renal sample taken during necropsy. Renal sections stained with H&E, PAS, PASM, Masson's Thrichrome and AFOG was evaluated by three independent pathologists. Later, morphological diagnoses were correlated with lab exams.Questo studio ha selezionato 40 cani completi di segnalamento, anamnesi, esami di laboratorio e campione bioptico renale prelevato tramite biopsia o post mortem, in sede necroscopica. Le sezioni istologiche ottenute e colorate con ematossilina ed eosina, PAS, PASM, Tricromica di Masson ed AFOG sono state valutate da tre patologi in sede separata. Le diagnosi morfologiche sono state poste poi in relazione con i dati laboratoristici in possesso

Unilateral uterine torsion in two non‐gravid bitches : imaging and histological features

A 4-year-old nulliparous Labrador Retriever bitch and a 7-year-old nulliparous crossbreed bitch were referred for weakness and vomiting. Ultrasonographic examination revealed in both cases a large abdominal mass-lesion with corpuscular fluid content; computed tomography examination revealed in both cases the uterine origin of the lesions, with findings consistent with torsion. Surgery confirmed the uterine torsion upon the ovarian pedicle in both cases, and at histological examination both presented a uterine polyp associated with haemorrhage and necrosis of the uterine wall. Both patients were released in good clinical conditions

A Large Deletion in the NSDHL

In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko’s lines. We investigated a female Labrador Retriever and her crossbred daughter, which both showed similar clinical lesions that followed Blaschko’s lines. The two male littermates of the affected daughter had died at birth, suggesting a monogenic X-chromosomal semidominant mode of inheritance. Whole genome sequencing of the affected daughter, and subsequent automated variant filtering with respect to 188 nonaffected control dogs of different breeds, revealed 332 hetero-zygous variants on the X-chromosome private to the affected dog. None of these variants was protein-changing. By visual inspection of candidate genes located on the X-chromosome, we identified a large deletion in the NSDHL gene, encoding NAD(P) dependent steroid dehydrogenase-like, a 3β-hydroxysteroid dehydrogenase involved in cholesterol biosynthesis. The deletion spanned >14 kb, and included the last three exons of the NSDHL gene. By PCR and fragment length analysis, we confirmed the presence of the variant in both affected dogs, and its absence in 50 control Labrador Retrievers. Variants in the NSDHL gene cause CHILD syndrome in humans, and the bare patches (Bpa) and striated (Str) phenotypes in mice. Taken together, our genetic data and the known role of NSDHL in X-linked skin disorders strongly suggest that the identified structural variant in the NSDHL gene is causative for the phenotype in the two affected dogs

A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko's lines. We investigated a female Labrador Retriever and her crossbred daughter, which both showed similar clinical lesions that followed Blaschko's lines. The two male littermates of the affected daughter had died at birth suggesting a monogenic X-chromosomal semi-dominant mode of inheritance. Whole genome sequencing of the affected daughter and subsequent automated variant filtering with respect to 188 non-affected control dogs of different breeds revealed 332 heterozygous variants on the X-chromosome private to the affected dog. None of these variants was protein-changing. By visual inspection of candidate genes located on the X-chromosome, we identified a large deletion in the NSDHL gene, encoding NAD(P) dependent steroid dehydrogenase-like, a 3β-hydroxysteroid dehydrogenase involved in cholesterol biosynthesis. The deletion spanned more than 14 kb and included the last three exons of the NSDHL gene. By PCR and fragment length analysis, we confirmed the presence of the variant in both affected dogs, and its absence in 50 control Labrador Retrievers. Variants in the NSDHL gene cause CHILD syndrome in humans and the bare patches (Bpa) and striated (Str) phenotypes in mice. Taken together, our genetic data and the known role of NSDHL in X-linked skin disorders strongly suggest that the identified structural variant in the NSDHL gene is causative for the phenotype in the two affected dogs