Genetic diseases in cattle

La elevata consanguineità sviluppatasi nella popolazione bovina ha aumentato il rischio di comparsa di malattie genetiche. Infatti, la selezione di un ristretto numero di riproduttori ha favorito l’incontro di geni recessivi mutati nel genotipo dei discendenti. Uno dei più grandi problemi nel controllo delle malattie genetiche è che queste si rivelano solo anni dopo che la mutazione è avvenuta, quando ormai l’allele recessivo difettoso è diffuso nella popolazione. La possibilità di osservare le caratteristiche fenotipiche degli animali affetti e di raccogliere campioni biologici, rimangono le condizioni necessarie per affrontare lo studio di una malattia genetica.Strong imbreeding in the bovine population has increased the risk of the occurrence of genetic disease. In fact, the wide use of only a few elite sires has enhanced the probability of the coupling of two mutated recessive genes. Condition alerting the investigator to the fact that an abnormality is likely genetic in nature are: 1) it is more common in a group of related animals; 2) it appears more frequently as the level of inbreeding increases. For some of the diseases discussed, the genetic origin has been definitively stated. For others, it is still only a hypothesis which has yet to be confirmed. For all of them, the most important point in reducing the incidence defect is an accurate clinical and pathological description

First Report on Medical Treatment and Outcome of Burnt Cattle

The management of livestock affected by fire often comes down to two options: euthanasia or slaughtering. However, the therapeutic approach can be attempted for high-value cattle. The aim of a primary assessment is to identify signs of smoke inhalation injuries, cardiovascular impairment and shock and to determine the severity and extent of burn injuries. Full-thickness burns covering 40% or more of the body are highly unfavorable prognostic factors and are usually fatal. Moreover, it can take several days for the burns to appear in their full extent, leaving the prognosis uncertain. In this case report, the clinical findings, treatment and outcome of two burnt Holstein heifers are described. Daily wound care required cleaning, the removal of eschars and the application of topical antibacterial agents for seven months in order to discharge one heifer. The topical use of honey with a solution of povidone–iodine proved to be affordable and successful, with no residue risks. The other heifer was more severely wounded, and despite the administration of fluid therapy, pain management, anti-oxidants and anti-microbials, after initial stabilization, the animal’s condition worsened, leading to euthanasia. This confirms that the treatment of burnt cattle is possible but challenging due to the late onset of multi-organ failure

Navel Healing and Calf Fitness for Transport

open5noDairy male calves are at risk of welfare compromise as they are usually transported at a very young age. The European Union has set a “completely healed navel” requirement for calf transport; moreover, a minimum age is established for longer journeys. However, this requirement has proven to be prone to misinterpretation. This study aimed to clarify what is meant by “navel healing” and to provide strong elements for reaching a consensus. The navels of 299 dairy calves (55 males, 244 females) aged 0–90 days were examined and scored 1 to 5 according to their healing status. Based on our results, a completely dry and shriveled navel (score 3) would imply a 25.5–38.0% risk of transporting too young calves. Alternatively, the presence of a scab covering the umbilical wound (score 4) would entail a 4.3% risk of transporting calves less than 10 days old and could be considered good practice for transporting calves (except for journeys exceeding 8 h). Conversely, complete navel healing (score 5) guarantees that calves that are too young are not transported; therefore, it should be considered best practice for transporting calves in general and the minimum requirement for transporting calves for journeys exceeding 8 h.openRoccaro, Mariana; Bolcato, Marilena; Masebo, Naod Thomas; Gentile, Arcangelo; Peli, AngeloRoccaro, Mariana; Bolcato, Marilena; Masebo, Naod Thomas; Gentile, Arcangelo; Peli, Angel

Associations between serum gamma-globulin concentration, enzyme activities, growth and survival in preweaning Alpine goat kids

Colostral immunity is crucial for young ruminants, but the individual factors that may affect passive transfer status and its effects on preweaning growth performance have not been widely investigated in goats. The methods to quantify immunoglobulins G can be expensive. Colostrum enzymes, though, pass the intestinal barrier and might be suitable as markers of passive transfer status, as demonstrated in other ruminant species. This study aimed to investigate the effect of sex, litter size, dam parity, and birth body weight on passive transfer status and the relationship between gamma-globulin concentration (GG) and pre-weaning growth performance in Alpine goat kids. The association between serum GG, serum total protein concentration and serum activity of colostrum enzymes including γ-glutamyltransferase (GGT), alkaline phosphatase (ALP), aspartate aminotrans- ferase (AST), and lactate dehydrogenase (LDH) was examined for their use as predictors of passive transfer status in neonatal goat kids. Sixty-six Alpine goat kids (39 males, 27 females), born to 28 does at one dairy goat farm during two delivery seasons, were enrolled. Kids nursed their dams in group housing until weaned at 50 days of age. Blood samples were collected 24 h after birth. Body weights (BW) were taken at birth and weaning. Serum enzyme activities and total protein concentration were measured using a clinical biochemical analyser. Serum GG was determined by gel electrophoresis. Statistical analysis was performed using GraphPad Prism (v. 8.2.1). No significant differences in serum GG between males and females, singlets and twins, multiparous’ and pri- miparous’ kids were found. No association was detected between birth BW and GG. Serum GG was strongly and significantly associated with TP (R2 =0.85; p 0.0001) and moderately associated with GGT (R2 =0.47; p 0.0001). No correlation was found with ALP, AST, and LDH. Although partial failure of passive transfer (FPT) was diagnosed in 23% of kids, no effects on morbidity (3%), mortality (0%) and pre-weaning growth performance were observed. Our results confirm that serum total proteins can be used to indirectly estimate immunoglobulin concentration. Contrarily, passive transfer status can be predicted with little success by measuring the activity of serum GGT. It is not advisable to use ALP, AST and LDH as indicators of passive transfer status. Finally, FTP is not necessarily associated with the health and preweaning growth performance of Alpine goat kids reared in non- intensive breeding systems that follow good farming practices

Use of Electrodiagnostics in the Diagnosis and Follow-Up of Brachial Plexus Syndrome in a Calf

Electrodiagnostic testing by using electromyography (EMG) and nerve conduction studies (NCS) is essential in the evaluation of patients with traumatic brachial plexus injury as it facilitates the localization of the lesion and the prognosis. In this case report, we present a long-term electrodiag- nostic follow-up of a 5-day-old female Holstein calf with brachial plexus syndrome. Electrodiagnostic studies were carried out at 2 weeks, 5 weeks, 7 months and 12 months after admission. Initially, EMG confirmed the damage to the brachial plexus, potentially indicating a condition of neurotmesis or axonotmesis. However, motor NCS and the repeated electrodiagnostic follow-up, along with the evolution of the clinical signs, allowed a more favorable diagnosis of axonotmesis to be made. In fact, EMG showed a slow but gradual reduction and finally the disappearance of spontaneous pathological activity, while motor NCS revealed an increase in the amplitude and areas of the compound muscle action potentials. The animal was deemed fully recovered 12 months after admission. To the authors’ knowledge, this is the first report on the use of motor NCS in bovine medicine and it demonstrates that electrodiagnostics represent a useful and practical tool for the evaluation and prognosis of brachial plexus injury cases in cattle

DYRK1B haploinsufficiency in a Holstein cattle with epilepsy.

In this study, epilepsy with focal seizures progressing to generalized seizures was diagnosed in a 6-month-old Holstein heifer. The seizures were characterized by a brief pre-ictal phase with depression and vocalization. During the ictal phase eyelid spasms, tongue contractions, nodding and abundant salivation were observed, rapidly followed by a convulsive phase with bilateral tonic, clonic or tonic-clonic activity and loss of consciousness. Finally, during the postictal phase the heifer was obtunded and disorientated, unable to perceive obstacles and hypermetric, and pressed its head against objects. In the inter-seizure phase, the heifer was clinically normal. Neuropathology revealed axonal degeneration in the brainstem and diffuse astrocytic hypertrophic gliosis. Whole genome sequencing of the affected heifer identified a private heterozygous splice-site variant in DYRK1B (NM_001081515.1: c.-101-1G>A), most likely resulting in haploinsufficiency owing to loss-of-function. This represents a report of a DYRK1B-associated disease in cattle and adds DYRK1B to the candidate genes for epilepsy

A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor.

Congenital tumors occur infrequently in cattle. The aim of this study was to detail the clinicopathological phenotype of a Holstein calf with a congenital mast cell tumor and to identify the genetic cause by a whole-genome sequencing (WGS) trio-approach. An 18-day-old male Holstein calf was clinically examed and revealed multifocal, alopecic, thick and wrinkled skin lesions over the entire body. At 6 months of age, the general condition of the calf was characterized by retarded growth, poor nutritional status, and ulceration of the skin lesions. Histopathological examination revealed a primary cutaneous, poorly differentiated embryonal mast cell tumor with metastases in the lymph nodes and liver. Genetic analysis revealed a private X-linked variant in the PLP2 gene (chrX:87216480C>T; c.50C>T), which was present only in the genomes of the case (hemizygous) and his mother (heterozygous). It was absent in the sire as well as in 5365 control genomes. The identified missense variant exchanges the encoded amino acid of PLP2 at position 17 (p.Thr17Ile), which is classified as deleterious and affects a protein that plays a role in tumor growth and metastasis. Therefore, we suggested that the detected PLPL2 variant could be a plausible cause for this congenital condition in the affected calf

KDM2B‐associated paunch calf syndrome in Marchigiana cattle

Background: Chianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but not in the Marchigiana breed. Recently, a case resembling recessively inherited KDM2B ‐associated paunch calf syndrome (PCS) in Romagnola cattle was identified in Marchigiana cattle. Hypothesis/Objectives: To characterize the features of the observed congenital anomaly, evaluate its possible genetic etiology, and determine the prevalence of the deleterious allele in the Marchigiana population. Animals: A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS‐like morphological lesions. Methods: The animal was necropsied and the calf and its parents were genotyped. A PCR‐based direct gene test was applied to determine the KDM2B genotype and 114 Marchigiana bulls were genotyped. Results: The pathological phenotype included facial deformities, enlarged fluid‐filled abdomen, and hepatic fibrosis. The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for KDM2B and the prevalence of carriers in a selected population of Marchigiana bulls was <2%. Conclusions and Clinical Importance: The characteristic malformations and genetic findings were consistent with the diagnosis of PCS and provide evidence that the deleterious KDM2B variant initially detected in Romagnola cattle also occurs in the Marchigiana breed

Malattie congenite del sistema nervoso del bovino

Bovine congenital diseases of thenervous system In calves, congenital (condition existing at or before birth) dis-orders of the nervous system are not rare: in the past they wereestimated to account for about 20% of all congenital defects.Unfortunately, the scarcity of surveillance programs and thelow economical value of young animals hinder submission ofclinical cases to diagnostic centers; hence their real prevalencegoes underestimated. Moreover, many defects can be identi-fied only by necropsy or histopathology.Congenital neurological conditions may be due to external ter-atogens or to genetic defects.Teratogens are biologic, toxic, chemical, physical or metabol-ic and can act directly on the developmental processes or canalter patterns of gene expression, inhibit cell interactions, orblock morphogenetic cell movements. Genetic defects are most-ly represented by autosomal inherited recessives and are usu-ally based on inborn errors of metabolism and on lack or dys-function of hormones, receptors, enzymes, structural proteins,neurotransmitters and ion channels (metabolic defects, stor-age defects, disturbed neurotransmission, channelopathies). Theincreased use of intensive breeding programs, based on the wide-spread use of selected elite sires, and the consequent increaseof the \u201cinbreeding grade\u201d, has allowed the homozygous pres-ence of recessive variants - responsible for malformation - inthe inbred progeny of many breeds.Genetic causes includes also \uabde novo\ubb pathogenic variants thatmay occur in one of the germ cells (sperm or egg) of one ofthe parents, or arise in the fertilized egg itself during early em-bryogenesis.The defects characterized by structural deformities of the nerv-ous structures are termed \u201ccongenital malformation\u201d and arethe result of disorders of tissue development such as: agene-sis (complete absence of an organ), aplasia (absence of an or-gan with retention of the organ rudiment), hypoplasia (in-complete development of an organ), dysraphic anomaly (fail-ure of opposed structures to undergo adhesion and fusion), in-volution failure (persistence of an embryonic structure that nor-mally disappears during development), division failure (in-complete cleavage of embryonic tissues owing to lack of pro-grammed cell death), atresia (failure of an organ rudiment toform a lumen), dysplasia (abnormal organization of cells in atissue), ectopia (error of morphogenesis in which an organ islocated outside its correct anatomic site), dystopia (error of mor-phogenesis in which an organ is retained at a site where it residedduring a stage of development). The majority of these disor-ders involve also the nervous system. The defect characterized by inborn alteration of physiologicalfunctions or metabolic processes may not be expressed or rec-ognized until later in life, so being erroneously interpreted asacquired diseases.The article presents the most common congenital defects of thenervous system in calves. Due to the fact that for the majori-ty of the congenital diseases the exact cause remains unknown,it is intention of this article to prompt farmers and veterinar-ians to consider - whenever possible - the submission of suchcases to diagnostic centers for further studies and investigation