Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype. With the improvement ...of software and databases, whole-exome sequencing quickly can become an excellent strategy in the routine diagnosis of patients with a developmental delay and/or multiple congenital malformations. However, even after a detailed analysis of pathogenic single-nucleotide variants and indels in known disease genes, using whole-exome sequencing, some patients with suspected syndromic conditions are left without a conclusive diagnosis. These negative results could be the result of different factors including nongenetic etiologies, lack of knowledge about the genes that cause different disease phenotypes, or, in some cases, a deletion or duplication of genomic information not routinely detectable by whole-exome sequencing variant calling. Although copy number variant detection is possible using whole-exome sequencing data, such analysis presents significant challenges and cannot yet be used to replace chromosomal arrays for identification of deletions or duplications.
Platynosomum spp. are parasites that inhabit the gallbladder and bile ducts of various mammals and birds worldwide. Most studies of Platynosomum spp. in birds focus on the observation and ...morphological characterization of the parasite through parasitological or molecular examinations, with scarce literature describing anatomopathological alterations, mainly histopathological. We report the case of a male barn owl infected with Platynosomum spp.. At necropsy, the barn owl showed dilation with parasites and fibrosis of the intrahepatic bile ducts and gallbladder. Microscopically, it was possible to identify trematodes in the bile ducts associated with a lymphoplasmacytic inflammatory infiltrate. The morphological structures of the worms were described on histopathology and direct examination. The presence of parasitism that is usually cosmopolitan in wild animals represents a risk to the biodiversity of fauna in the region, as well as a warning about the spread and maintenance of the biological cycle of the worm in humans and domestic animals.
•First case report in the northeast of Platynosomum spp. infection in wild birds.•Birds can be paratenic and/or definitive hosts of Platynosomum spp.•Case reports in different species improve understanding of the parasite's biological cycle.•Histopathology is a tool for morphological description of the parasite.
The clinical, epidemiological and anatomopathological findings of anthelmintic poisoning in small ruminants diagnosed at the Veterinary Hospital of the Federal University of Campina Grande, Patos, ...Paraíba, from January 2000 to December 2022 are described. A total of 1,928 necropsies were carried out on small ruminants, of which 1,032 were goats and 896 sheep. Four outbreaks of anthelmintic poisoning were identified in these species: one outbreak of ivermectin in sheep, one outbreak of disophenol in goats and sheep and two outbreaks of nitroxinil in goats. These intoxications accounted for 0.78% and 0.23% of goat and sheep diseases diagnosed routinely. In the case of ivermectin poisoning, the animal had neurological clinical signs, and no macroscopic or histopathological alterations were observed. In the outbreaks of disophenol and nitroxinil, the animals showed anorexia, hyperthermia, tachycardia, tremors, dyspnea, incoordination and limb rigidity. Macroscopically, there were liver and kidney lesions associated with circulatory alterations, such as hemorrhages and edema. Microscopically, necrosis and degeneration of hepatocytes and tubular epithelial cells associated with hemorrhage and congestion were observed. The prevalence of these intoxications in small ruminants is considered low in the Semi-arid Northeast, but outbreaks can occur with high lethality in herds. The main risk factor for the occurrence of intoxications was overdose, combined with other factors such as the age of the animals, high environmental temperature, constant exercise and low body score, which increased the toxicity of anthelmintics.
RESUMO: Descrevem-se os achados clínicos, epidemiológicos e anatomopatológicos das intoxicações por anti-helmínticos em pequenos ruminantes diagnosticadas no Hospital Veterinário da Universidade Federal de Campina Grande, Patos, Paraíba, durante o período de janeiro de 2000 a dezembro de 2022. Foram realizadas 1.928 necropsias de pequenos ruminantes, sendo 1.032 caprinos e 896 ovinos. Destes, foram identificados quatro surtos de intoxicação por anti-helmínticos nessas espécies: um surto de intoxicação por ivermectina em ovino, um surto de disofenol em caprinos e ovinos e dois surtos por nitroxinil em caprinos. Essas intoxicações representaram 0,78% e 0,23% das doenças de caprinos e ovinos diagnosticadas na rotina, respectivamente. Na intoxicação por ivermectina o animal apresentava sinais clínicos neurológicos e não foram observadas alterações macroscópicas e histopatológicas. Nos surtos de disofenol e nitroxinil, os animais demonstravam anorexia, hipertermia, taquicardia, tremores, dispneia, incoordenação e rigidez de membros. Macroscopicamente observou-se lesões hepáticas e renais associadas a alterações circulatórias como hemorragias e edemas. Microscopicamente observou-se necrose e degeneração de hepatócitos e das células epiteliais tubulares associadas a hemorragia e congestão. A prevalência dessas intoxicações em pequenos ruminantes é considerada baixa no Semiárido nordestino, entretanto, os surtos podem ocorrer com alta letalidade nos rebanhos. O principal fator de risco para a ocorrência das intoxicações foi a sobredosagem aliada aos demais fatores como idade dos animais, temperatura ambiental alta, exercício constante e escore corporal baixo, que provocaram o aumento da toxicidade dos anti-helmínticos.
This study describes the epidemiological, clinical, and pathological aspects of spontaneous and experimental poisoning by nitroxinil at 34% concentration in goats. The outbreak occurred on a farm in ...the municipality of Prata, Paraíba state. Nitroxinil was administered to a herd of 120 goats, of which 18 presented with anorexia, vocalization, abdominal distension, weakness, staggering, and falls. Necropsy of three goats revealed that the main lesion was acute liver injury. Histologically the liver showed centrilobular necrosis associated with hemorrhage and hepatocyte degeneration. In the kidneys, tubular nephrosis with granular cylinder formations was observed. The lungs showed multifocal to coalescent areas of moderate interalveolar edema and vascular congestion. Experimental poisoning was carried out in two goats, with the same medication and doses administered on the farm. The experimental goats showed clinical signs and macroscopic and histological changes similar to the spontaneously poisoned goats. The diagnosis of nitroxinil poisoning was made based on epidemiological, clinical, and pathological data, and confirmed by experimental poisoning. The administration of nitroxinil in high doses, associated with high ambient temperature and physical exercises, can cause poisoning with high lethality in goats.
RESUMO: Este estudo descreve os aspectos epidemiológicos, clínicos e patológicos da intoxicação espontânea e experimental por nitroxinil na concentração de 34% em caprinos. O surto ocorreu em uma fazenda no município de Prata, Paraíba. Nitroxinil foi administrado a um rebanho de 120 cabras, das quais 18 apresentavam anorexia, vocalização, distensão abdominal, fraqueza, cambaleando e quedas. A necropsia de três cabras revelou que a lesão principal era uma lesão hepática aguda. Histologicamente, o fígado apresentava necrose centrolobular associada a hemorragia e degeneração de hepatócitos. Nos rins, nefrose tubular com formações de cilindro granular foi observada. Os pulmões apresentavam áreas multifocais a coalescentes de edema interalveolar moderado e congestão vascular. A intoxicação experimental foi realizada em duas cabras, com a mesma medicação e doses administradas na fazenda. As cabras experimentais apresentaram sinais clínicos e alterações macroscópicas e histológicas semelhantes às cabras intoxicadas espontaneamente. O diagnóstico de intoxicação por nitroxinil foi feito com base em dados epidemiológicos, clínicos e patológicos, e confirmado por intoxicação experimental. A administração de nitroxinil em altas doses, associada à alta temperatura ambiente e exercícios físicos, pode causar intoxicação com alta letalidade em caprinos.
Genomic rearrangements encompass deletions, duplications, inversions, insertions and translocations and may be the cause of several genetic diseases. One of the most frequent mechanisms that generate ...these rearrangements is the Non-Allelic Homologous Recombination (NAHR). They are caused by a misalignment between regions of high level of similarity, like Low Copy Repeats (LCRs) and Alu sequences. We aimed to sequence the breakpoint of a patient with a single deletion on chromosome 22q13.2 in order to understand the genomic structure of the region involved as well as elucidate the mechanism behind this rearrangement. Investigating breakpoints are of the utmost importance in the understanding the influence of the genomic architecture in clinical assays. We flanked the breakpoint detected by array and then we captured the regions using Illumina Nextera Rapid Capture Custom to sequence with Illumina MiSeq. We found a chimeric read on Chr22:41,026,090, setting a 624,688 bp deletion on Chr22:41,026,112-41,650,780 (hg19). This deletion merges the intronic region of MKL1 and RANGAP1 genes, on two different Alu sequences (AluSx and AluY, respectively). The sequence of the breakpoint reveals that Alu elements are an important characteristic of the human genome on generating rearrangements.
•We investigated the breakpoint on chromosome 22q13.2 in order to understand the genomic structure of the region involved as well as elucidate the mechanism behind this rearrangement.•Our results showed that the breakpoint is inserted in two different Alu regions and the absence of micro-homology inside the breakpoint, lead us to consider NAHR mechanism driven by Alu. It is the first time that a fusion between MKL1 and RANGAP1 genes are sequenced.•Delineate breakpoints is important to understanding the influence of the genomic architecture in clinical assays.
Platynosomum spp. are parasites that inhabit the gallbladder and bile ducts of various mammals and birds worldwide. Most studies of Platynosomum spp. in birds focus on the observation and ...morphological characterization of the parasite through parasitological or molecular examinations, with scarce literature describing anatomopathological alterations, mainly histopathological. We report the case of a male barn owl infected with Platynosomum spp.. At necropsy, the barn owl showed dilation with parasites and fibrosis of the intrahepatic bile ducts and gallbladder. Microscopically, it was possible to identify trematodes in the bile ducts associated with a lymphoplasmacytic inflammatory infiltrate. The morphological structures of the worms were described on histopathology and direct examination. The presence of parasitism that is usually cosmopolitan in wild animals represents a risk to the biodiversity of fauna in the region, as well as a warning about the spread and maintenance of the biological cycle of the worm in humans and domestic animals.
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