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1.
Tech Coloproctol ; 28(1): 34, 2024 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-38369674

RESUMO

BACKGROUND: In the decision to perform elective surgery, it is of great interest to have data about the outcomes of surgery to individualize patients who could safely undergo sigmoid resection. The aim of this study was to provide information on the outcomes of elective sigmoid resection for sigmoid diverticular disease (SDD) at a national level. METHODS: All consecutive patients who had elective surgery for SDD (2010-2021) were included in this retrospective, multicenter, cohort study. Patients were identified from institutional review board-approved databases in French member centers of the French Surgical Association. The endpoints of the study were the early and the long-term postoperative outcomes and an evaluation of the risk factors for 90-day severe postoperative morbidity and a definitive stoma after an elective sigmoidectomy for SDD. RESULTS: In total, 4617 patients were included. The median [IQR] age was 61 [18.0;100] years, the mean ± SD body mass index (BMI) was 26.8 ± 4 kg/m2, and 2310 (50%) were men. The indications for surgery were complicated diverticulitis in 50% and smoldering diverticulitis in 47.4%. The procedures were performed laparoscopically for 88% and with an anastomosis for 83.8%. The severe complication rate on postoperative day 90 was 11.7%, with a risk of anastomotic leakage of 4.7%. The independent risk factors in multivariate analysis were an American Society of Anesthesiologists (ASA) score ≥ 3, an open approach, and perioperative blood transfusion. Age, perioperative blood transfusion, and Hartmann's procedure were the three independent risk factors for a permanent stoma. CONCLUSIONS: This series provides a real-life picture of elective sigmoidectomy for SDD at a national level. TRIAL REGISTRATION: Comité National Information et Liberté (CNIL) (n°920361).


Assuntos
Doença Diverticular do Colo , Diverticulite , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Estudos de Coortes , Colo Sigmoide/cirurgia , Diverticulite/cirurgia , Diverticulite/complicações , Doença Diverticular do Colo/cirurgia , Doença Diverticular do Colo/complicações , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso
2.
Anim Genet ; 51(6): 982-986, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32985704

RESUMO

Mucopolysaccharidosis (MPS) VI is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase, also called arylsulfatase B (ARSB, EC 3.1.6.12). Dogs with MPS VI show progressive predominantly oculoskeletal signs homologous to those in human and feline patients. We report herein two pathogenic ARSB gene variants in Miniature Pinscher and Miniature Schnauzer dogs with MPS VI and a genotyping survey in these breeds. All exons and adjacent regions of the ARSB gene were sequenced from three affected Miniature Pinschers and three affected Miniature Schnauzers. Allelic discrimination assays were used for genotyping. A missense variant (NM_001048133.1:c.910G>A) was found in exon 5 of MPS VI-affected Miniature Pinschers that is predicted to result in a deleterious amino acid substitution of a highly conserved glycine to arginine (NP_001041598.1:p.Gly304Arg). In MPS VI-affected Miniature Schnauzers, a 56 bp deletion (NM_001048133.1:c.-24_32del) was found at the junction of exon 1 and its upstream region, predicting no enzyme synthesis. All clinically affected Miniature Pinschers and Miniature Schnauzers were homozygous for the respective variants, and screened healthy dogs in each breed were either heterozygous or homozygous for the wt allele. Whereas the Miniature Pinscher variant seemed to occur commonly (0.133 allele frequency), the Miniature Schnauzer variant was presumed to be rare. In conclusion, two breed-specific pathogenic ARSB gene variants were identified in Miniature Pinscher and Miniature Schnauzer dogs with MPS VI, allowing for genotyping and informed breeding to prevent the production of affected offspring.


Assuntos
Doenças do Cão/genética , Cães/genética , Mucopolissacaridose VI/genética , N-Acetilgalactosamina-4-Sulfatase/genética , Animais , Cruzamento , Éxons , Frequência do Gene , Homozigoto , Mutação de Sentido Incorreto
3.
Anim Genet ; 50(3): 303-306, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30854707

RESUMO

In domestic cats, the AB blood group system consists of the three types A, B and C (also called AB). Mismatches can cause acute hemolytic transfusion reactions and hemolysis of the newborn (neonatal isoerythrolysis, NI). As blood types B and C are inherited recessively to A, breeders need to know the genotype to predict blood types in offspring and avoid NI. Several CMAH variants have been described as being associated with the b and ac alleles, and different genotyping schemes exist. Here, we genotyped 2145 cats with the original SNV panel, including SNVs c.142G>A and ∆-53, and our new scheme, with SNVs c.179G>T, c.268T>A and c.1322delT, to differentiate types A and B and added the SNV for the common ac (c.364C>T). Based upon the new scheme, all samples were assigned the correct genotype. No discordances appeared for the A allele, and new breed-specific SNVs (c.179G>T, c.1322delT) for the b allele were discovered. Furthermore, the genotypes A/ac (type A), ac /ac (C) and ac /b (C) could be detected. We found the variant c.179G>T in additional breeds: Ragdoll, Siberian, Scottish Fold, Chartreux, Neva Masquerade, British Shorthair and Highlander. Also, the variant c.364C>T was detected in additional breeds: Bengal, British Shorthair, Maine Coon, and Scottish Fold. We conclude that our new SNV panel is superior in genotyping cats than the original SNV panel and assures correct assignments of types A, B and C to assist veterinary clinicians and breeders to recognize, confirm and avoid blood incompatibilities such as acute hemolytic transfusion reactions and NI.


Assuntos
Antígenos de Grupos Sanguíneos , Gatos/genética , Técnicas de Genotipagem/veterinária , Animais , Gatos/classificação , Linhagem , Polimorfismo de Nucleotídeo Único
4.
Vet Pathol ; 53(3): 629-32, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26354310

RESUMO

A 7-month-old female domestic shorthair cat was diagnosed with chronic regenerative hemolytic anemia characterized by increased osmotic fragility of unknown etiology. At 13 months of age, the cat was evaluated for acute collapse. The cat was icteric with severe hyperbilirubinemia but no hematocrit changes. Severe obtundation and lateral recumbency progressed to tetraparesis and loss of proprioception in all 4 limbs, and a cerebellar or brainstem lesion was suspected. Postmortem examination revealed suppurative cholangiohepatitis and acute neuronal necrosis in the nuclei of the brainstem and cerebellum, consistent with bilirubin encephalopathy. This is the first known occurrence of cholangiohepatitis and bilirubin encephalopathy in an adult cat with chronic hemolytic anemia. Although rare, bilirubin encephalopathy should be considered a possible sequela to hyperbilirubinemia in adult patients. It remains unknown whether increased osmotic fragility was related to the cholangiohepatopathy.


Assuntos
Anemia Hemolítica/veterinária , Doenças do Gato/diagnóstico , Colangite/veterinária , Hepatite Animal/etiologia , Kernicterus/veterinária , Anemia Hemolítica/etiologia , Animais , Ductos Biliares/patologia , Doenças do Gato/etiologia , Doenças do Gato/patologia , Gatos , Colangite/diagnóstico , Colangite/patologia , Feminino , Hiperbilirrubinemia , Kernicterus/diagnóstico , Kernicterus/patologia , Fígado/patologia , Fragilidade Osmótica
5.
Vet Pathol ; 52(1): 160-9, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24723233

RESUMO

Mucopolysaccharidosis (MPS) type IIIB was diagnosed in 14 juvenile emus (Dromaius novaehollandiae), ages 3 weeks to 6 months, based on pathological and biochemical analyses. The animals had a history of neurological signs or sudden death; one of the birds with neurological signs and 3 others experienced acute hemoabdomen. Histopathologically, neuronal swelling and vacuolation in the cerebrum, cerebellum, brainstem, and spinal cord (80%-92%); retina (100%); autonomic ganglia of the intestine (71%); gizzard (50%); adrenal gland (27%); and ear (50%) were noted in affected but not healthy emus. Cytoplasmic vacuoles were also observed in the pancreas, liver, intestine, adrenal glands, and kidneys. The intracytoplasmic inclusions were periodic acid-Schiff and Luxol Fast Blue positive, consistent with a storage disease. Foamy macrophages infiltrated the liver, intestine, tunica media of the aorta, and spleen. By transmission electron microscopy, typical lamellated cytoplasmic bodies were detected in neurons of the brain and retina, while electron-dense bodies consistent with glycosaminoglycan inclusions were observed in hepatocytes and/or hepatic macrophages. The livers of the 2 affected emus studied contained large amounts of heparan sulfate, which is suggestive of MPS type III. Compared with normal controls, hepatic and serum α-N-acetylglucosaminidase activity was very low (<8% of control), while other enzyme activities were normal to increased in the 2 affected emus studied. Moreover, affected emus were homozygous for a 2-bp deletion in the NAGLU gene. This study characterizes the pathology of MPS type IIIB in emus, which is one of the rare inborn errors in birds, showing the homology of this condition to Sanfilippo syndrome in humans.


Assuntos
Doenças das Aves/patologia , Mucopolissacaridose III/veterinária , Acetilglucosaminidase/metabolismo , Animais , Encéfalo/patologia , Dromaiidae , Glicosaminoglicanos/metabolismo , Corpos de Inclusão/metabolismo , Mucopolissacaridose III/patologia , Neurônios/patologia , Deleção de Sequência
6.
Mol Cell Probes ; 26(6): 243-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22446493

RESUMO

Hereditary muscle-type phosphofructokinase (PFK) deficiency causing intermittent hemolytic anemia and exertional myopathy due to a single nonsense mutation in PFKM has been previously described in English Springer and American Cocker Spaniels, Whippets, and mixed breed dogs. We report here on a new missense mutation associated with PFK deficiency in Wachtelhunds. Coding regions of the PFKM gene were amplified from genomic DNA and/or cDNA reverse-transcribed from RNA of EDTA blood of PFK-deficient and clinically healthy Wachtelhunds and control dogs. The amplicons were sequenced and compared to the published canine PFKM sequence. A point mutation (c.550C>T, in the coding sequence of PFKM expressed in blood) was found in all 4 affected Wachtelhunds. This missense mutation results in an amino acid substitution of arginine (Arg) to tryptophan (Trp) at position 184 of the protein expressed in blood (p.Arg184Trp). The mutation is located within an alpha-helix, and based on the SIFT analysis, this amino acid substitution is not tolerated. Amplifying the region around this mutation and digesting the PCR fragment with the restriction enzyme MspI, produces fragments that readily differentiate between PFK-deficient, carrier, and normal animals. Furthermore, we document 2 additional upstream PFKM exons expressed in canine testis but not in blood. Despite their similar phenotypic appearance and use for hunting, Wachtelhunds and English Springer Spaniels are not thought to have common ancestors. Thus, it is not surprising that different mutations are responsible for PFK deficiency in these breeds. Knowledge of the molecular basis of PFK deficiency in Wachtelhunds provides an opportunity to screen and control the spread of this deleterious trait.


Assuntos
Doenças do Cão/genética , Doença de Depósito de Glicogênio Tipo VII/veterinária , Mutação de Sentido Incorreto , Fosfofrutoquinases/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Sequência Conservada , Análise Mutacional de DNA , Doenças do Cão/diagnóstico , Doenças do Cão/enzimologia , Cães , Feminino , Estudos de Associação Genética , Doença de Depósito de Glicogênio Tipo VII/diagnóstico , Doença de Depósito de Glicogênio Tipo VII/genética , Masculino , Dados de Sequência Molecular , Linhagem
7.
Br J Surg ; 98(3): 391-6, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21254014

RESUMO

BACKGROUND: Bile duct injury (BDI) remains the most serious complication of laparoscopic cholecystectomy (LC). A Swiss database was used to identify risk factors for BDI and to assess the effect of intraoperative cholangiography (IOC). METHODS: Data for patients from 114 Swiss institutions who underwent LC for acute or chronic cholecystitis between 1995 and 2005 were used in univariable and logistic regression analyses. RESULTS: In total 31 838 patients, mean(s.d.) age 54·4(15·9) years, were analysed. The incidence of BDI was 0·3 per cent (101 patients), which did not change over time (P = 0·560). Univariable analysis revealed that male patients had a higher risk of BDI (0·5 per cent versus 0·2 per cent in female patients; P = 0·001), as did patients whose operation lasted at least 150 min (1·1 per cent versus 0·1 per cent for operating time of less than 150 min; P < 0·001). Logistic regression confirmed male sex (odds ratio (OR) 1·89, 95 per cent confidence interval 1·27 to 2·81) and prolonged surgery (OR 12·60, 10·87 to 23·81) as independent risk factors. Comparison of groups with and without intraoperative cholangiography showed no difference in the incidence of BDI (both 0·3 per cent; P = 0·755) and BDIs missed during surgery (10 versus 8 per cent; P = 0·737). CONCLUSION: Male sex and prolonged laparoscopic surgery are independent risk factors for BDI during LC. Frequent use of IOC does not seem to reduce BDI or the number of injuries missed during surgery.


Assuntos
Ductos Biliares/lesões , Colangiografia/métodos , Colecistectomia Laparoscópica/métodos , Colecistite/cirurgia , Feminino , Humanos , Cuidados Intraoperatórios , Complicações Intraoperatórias/etiologia , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Radiografia Intervencionista , Fatores de Risco , Fatores de Tempo
8.
Colorectal Dis ; 13(6): 684-8, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20184639

RESUMO

AIM: Colorectal cancer (CRC) complicating inflammatory bowel disease (IBD) accounts for 10-15% of all IBD deaths. Survival of patients with IBD-related CRC was reviewed to analyse differences between ulcerative colitis (UC) and Crohn's disease (CD). METHOD: We analysed (24 men and 10 women) patients with CD (n = 14) or UC (n = 20) with CRC, who presented between 1990 and 2007, and were followed to October, 2009. RESULTS: The mean age of patients was 56 ± 12 years for patients with UC and 49 ± 17 years for patients with CD, and the mean duration of symptoms was 22 ± 11 and 16 ± 8 years, respectively. The median duration of follow up after the diagnosis of CRC was 49 (1-157) months. Recurrence occurred in five patients with UC and in nine with CD (P = 0.02). The overall and disease free five year survivals were significantly higher in patients with UC than CD [70%vs 43% (P = 0.01) and 63%vs 31% (P = 0.01), respectively]. CONCLUSION: The results showed a poorer prognosis of CRC in patients with CD than with UC.


Assuntos
Colite Ulcerativa/complicações , Neoplasias Colorretais/complicações , Neoplasias Colorretais/mortalidade , Doença de Crohn/complicações , Adulto , Idoso , Quimioterapia Adjuvante , Colite Ulcerativa/mortalidade , Colite Ulcerativa/patologia , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Doença de Crohn/mortalidade , Doença de Crohn/patologia , Intervalo Livre de Doença , Feminino , Humanos , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/secundário , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Taxa de Sobrevida
9.
World J Surg ; 35(4): 900-4, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21274532

RESUMO

BACKGROUND: Sphincter-sparing procedures are increasingly advocated in the treatment of chronic anal fissures (CAF) resistant to conservative management. Herein, we report about our results with sphincter-sparing transanal mucosal advancement flap anoplasty (MAAP) to treat CAF. PATIENTS AND METHODS: The present study was a retrospective single-center analysis of patients in whom conservative management of CAF failed and who subsequently underwent MAAP between January 2003 and December 2008. RESULTS: A total of 26 patients with a median age of 46.5 years (range: 17-79 years) had undergone MAAP after suffering with CAF for a median period of 9 months (range: 4-36 months). Surgery was well tolerated in all patients. One patient developed a perianal abscess at the operative site 3 weeks after MAAP, which required excision. At 2, 12, and 24 months follow-up, all patients were free of pain with no fissure recurrence or any worsening of incontinence. CONCLUSIONS: Mucosal advancement flap anoplasty might be another sphincter-sparing treatment option in patients suffering from CAF. To draw final conclusions about the value of MAAP in the treatment of CAF, more solid data are required.


Assuntos
Fissura Anal/cirurgia , Mucosa/cirurgia , Retalhos Cirúrgicos/irrigação sanguínea , Cicatrização/fisiologia , Adolescente , Adulto , Idoso , Antibioticoprofilaxia , Doença Crônica , Estudos de Coortes , Feminino , Fissura Anal/diagnóstico , Fissura Anal/tratamento farmacológico , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios/métodos , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
10.
Sci Rep ; 10(1): 21399, 2020 12 08.
Artigo em Inglês | MEDLINE | ID: mdl-33293645

RESUMO

Genotype-phenotype correlations of humans and dogs with hereditary methemoglobinemia are not yet well characterized. We determined total hemoglobin and methemoglobin (MetHb) concentrations, cytochrome b5 reductase (CYB5R) enzyme activities, genotypes, and clinical signs in 30 dogs with persistent cyanosis without cardiopulmonary disease. Erythrocytic CYB5R enzyme activities were low in all dogs assayed. Owner-reported quality of life ranged from subclinical to occasional exertional syncope. Two previously reported and two novel CYB5R3 missense variants were identified among the methemoglobinemic cohort and were predicted to impair enzyme function. Two variants were recurrent: a homozygous Ile194Leu substitution was found in Pomeranians and other small dogs, and a homozygous Arg219Pro change occurred predominately in pit bull terriers. The other two variants were Thr202Ala and Gly76Ser substitutions in single dogs. Of the two common CYB5R3 genotypes, Arg219Pro was associated with a more severe metabolic phenotype. We conclude that CYB5R3 deficiency is the predominate cause of canine hereditary methemoglobinemia. Although this finding is unlikely to alter the clinical approach to hereditary methemoglobinemia in dogs, it demonstrates the possibility of how genotype-phenotype cohort analysis might facilitate precision medicine in the future in veterinary medicine.


Assuntos
Citocromo-B(5) Redutase/genética , Metemoglobinemia/congênito , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Animais , Citocromo-B(5) Redutase/deficiência , Cães , Feminino , Predisposição Genética para Doença , Hemoglobinas/metabolismo , Masculino , Metemoglobina/metabolismo , Metemoglobinemia/genética , Metemoglobinemia/metabolismo , Estudos Prospectivos
11.
Br J Surg ; 96(9): 1076-81, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19672938

RESUMO

BACKGROUND: Chronic postoperative pain after inguinal surgery remains a difficult problem. The role of minimally invasive surgery in this complex setting is still unexplored. METHODS: Between January 1997 and January 2007, 34 men and five women with a mean(s.d.) age of 47(16) years underwent endoscopic retroperitoneal neurectomy (ERN) for chronic neuropathic groin pain due to genitofemoral nerve with or without ilioinguinal nerve entrapment. Follow-up data were obtained 1 and 12 months after surgery. RESULTS: At both timepoints after ERN, the severity of chronic postoperative groin pain at rest and during daily activities, and the rate of occupational disability, were significantly decreased in 27 of the 39 patients compared with preoperative values (all P < 0.001). CONCLUSION: ERN for chronic postoperative genitofemoral nerve entrapment neuropathy was successful in the majority of patients selected for the procedure. This minimally invasive approach allows simultaneous neurectomy of genitofemoral and ilioinguinal nerves.


Assuntos
Endoscopia , Virilha/cirurgia , Síndromes de Compressão Nervosa/cirurgia , Dor Pós-Operatória/cirurgia , Doença Crônica , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Neuralgia/etiologia , Neuralgia/cirurgia
12.
Aust Vet J ; 87(1): 39-44, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19178476

RESUMO

OBJECTIVE: To determine the frequency of the mutant pyruvate kinase (PK) allele, haematological parameters and AB blood types of Abyssinian and Somali cats in Australia. DESIGN: Complete blood cell and reticulocyte counts, DNA PK mutation testing and blood typing were performed in all cats. RESULTS: A total of 60 cats (36 Abyssinians, 24 Somalis) were included (37 females, 23 males). For the mutant PK allele, three female Somalis were homozygous (affected, 5%), 17 cats were heterozygous (carrier, 28%) and 40 cats tested negative (normal, 67%). Pedigree analysis revealed common ancestry of affected and many carrier cats. Of affected cats, two had regenerative anaemias and all had reticulocytosis (range 64-390 x 10(9)/L; P < 0.001 compared with normal or carrier cats). The only consistent historical sign was lethargy. One affected cat was euthanased 18 months after testing, because of anaemia, neutropenia, anorexia and weight loss. The mutant allele frequency was 0.19 overall (0.29 in Somalis, 0.13 in Abyssinians). All cats had blood type A. The commercial blood typing card method incorrectly identified 12 cats as having type AB blood. CONCLUSIONS: The frequency of the mutant PK allele is high in Australia. Screening for PK deficiency is indicated before mating and in individual cats of these breeds, even in the absence of anaemia and especially when there is reticulocytosis. Although all cats in the present study had blood type A, blood type B is common in these breeds worldwide. Retyping of any AB typed cats by a laboratory technique is recommended.


Assuntos
Doenças do Gato/enzimologia , Doenças do Gato/genética , Gatos/sangue , Eritrócitos/enzimologia , Piruvato Quinase/deficiência , Piruvato Quinase/genética , Alelos , Animais , Austrália , Tipagem e Reações Cruzadas Sanguíneas/veterinária , Cruzamento , Portador Sadio/veterinária , Doenças do Gato/patologia , Feminino , Frequência do Gene , Masculino , Mutação , Linhagem
13.
J Small Anim Pract ; 49(9): 479-82, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18684151

RESUMO

A Somali cat was presented with recurrent anorexia, lethargy, vomiting and icterus. A macrocytic-hypochromic, regenerative haemolytic anaemia was identified and hereditary pyruvate kinase deficiency was confirmed by means of breed-specific DNA mutation analysis. The case was complicated by the presence of markedly elevated serum liver enzyme activities, hyperbilirubinaemia, coagulopathy and ultrasonographic evidence of gall bladder choleliths and extrahepatic bile duct obstruction. The choleliths consisted of 100 per cent bilirubin, likely because of chronic haemolysis and haeme degradation. In conclusion, haemosiderosis and bilirubin cholelithiasis can be a consequence of chronic haemolysis in pyruvate kinase-deficient cats, as seen in human beings with a variety of chronic haemolytic disorders.


Assuntos
Anemia Hemolítica/veterinária , Doenças do Gato/diagnóstico , Colelitíase/veterinária , Hemossiderose/veterinária , Piruvato Quinase/deficiência , Anemia Hemolítica/complicações , Animais , Bélgica , Bilirrubina/análise , Doenças do Gato/etiologia , Doenças do Gato/terapia , Gatos , Colelitíase/diagnóstico , Colelitíase/etiologia , Colelitíase/terapia , Eutanásia Animal , Feminino , Hemossiderose/diagnóstico , Hemossiderose/etiologia , Hemossiderose/terapia , Radiografia , Esplenomegalia/diagnóstico por imagem , Esplenomegalia/veterinária , Vitamina K/administração & dosagem
14.
Mol Cell Biol ; 10(6): 3268-71, 1990 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2160598

RESUMO

Retroviral vectors were used to transfer genes efficiently into rat and dog myoblasts in primary cultures under conditions which permitted the transduced myoblasts to differentiate into myotubes expressing the transferred genes. The transduced myotubes expressed normal markers of differentiation and were morphologically indistinguishable from uninfected myotubes. Retroviral vector-mediated gene transfer was also used to correct a genetic enzyme deficiency in mutant canine muscle cells.


Assuntos
Músculos/citologia , Mutação , Retroviridae/genética , Transfecção , Animais , Diferenciação Celular , Células Cultivadas , Cães , Feto , Genes Bacterianos , Glucuronidase/deficiência , Glucuronidase/genética , Canamicina Quinase , Fosfotransferases/genética , Ratos , Ratos Endogâmicos
15.
J Vet Intern Med ; 31(3): 751-758, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28391649

RESUMO

BACKGROUND: The Dal blood group system was identified a decade ago by the accidental sensitization of a Dal- Dalmatian with a Dal+ blood transfusion. Similar Dal-related blood incompatibilities have been suspected in other Dalmatians, Doberman Pinschers, and other breeds. OBJECTIVES: To determine the prevalence and mode of inheritance of the Dal antigen expression in dogs. ANIMALS: A total of 1130 dogs including 128 Dalmatians, 432 Doberman Pinschers, 21 Shih Tzus, and 549 dogs of other breeds including 228 blood donors were recruited from North America between 2008 and 2015. METHODS: Prospectively, dogs were blood typed for Dal applying a gel column technique using polyclonal canine anti-Dal sera. Pedigrees from 8 typed families were analyzed. RESULTS: The prevalence of the Dal+ blood type varied between 85.6 and 100% in Dalmatians and 43.3-78.6% in Doberman Pinschers depending on geographical area. Dal- dogs were identified mostly in Dalmatians (15/128; 11.7%), Doberman Pinschers (183/432; 42.4%), and Shih Tzus (12/21; 57.1%), and sporadically in mixed-breed dogs (3/122; 2.5%), Lhasa Apsos (1/6) and Bichon Frises (1/3). Only 6/245 (2.4%) blood donors were found to be Dal-, including 5 Doberman Pinschers. The mode of inheritance of the Dal+ phenotype was determined to be autosomal dominant. CONCLUSIONS AND CLINICAL IMPORTANCE: The high percentage of Dal- Doberman Pinchers, Dalmatians and Shih Tzus increases their risk of being sensitized by a blood transfusion from the common Dal+ donor. Extended Dal typing is recommended in those breeds and in dogs when blood incompatibility problems arise after initial transfusions.


Assuntos
Antígenos de Grupos Sanguíneos/genética , Cães/sangue , Animais , Antígenos de Grupos Sanguíneos/sangue , Tipagem e Reações Cruzadas Sanguíneas/veterinária , Feminino , Predisposição Genética para Doença , Masculino , Linhagem , Prevalência , Estados Unidos/epidemiologia
16.
J Vet Intern Med ; 31(6): 1860-1865, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28963729

RESUMO

A juvenile male mixed breed dog was presented for lethargy, exercise intolerance, and aggression when touched on the head. Cyanosis, tachycardia, and tachypnea were observed and persisted during oxygen supplementation. Arterial blood gas analysis by co-oximetry identified an increased methemoglobin concentration (27%; normal, <2%) with normal arterial oxygen tension. The methemoglobinemia and associated clinical signs resolved after administration of methylene blue (1 mg/kg) IV, and the dog was discharged. The affected dog's whole-genome sequence contained 2 potentially causal heterozygous CYB5R3 missense mutations suggesting that cytochrome b5 reductase deficiency was responsible for the methemoglobinemia. This hypothesis was confirmed by enzyme analysis that identified cytochrome b5 reductase activity in the affected dog's erythrocytes to only approximately 6% of that in a control sample. Clinical signs recurred 11 days after discharge but normalized and the methemoglobin concentration decreased with methylene blue administration PO (1.5 mg/kg, initially daily and then every other day).


Assuntos
Citocromo-B(5) Redutase/deficiência , Doenças do Cão/genética , Metemoglobinemia/veterinária , Azul de Metileno/uso terapêutico , Animais , Gasometria/veterinária , Citocromo-B(5) Redutase/genética , Doenças do Cão/tratamento farmacológico , Cães , Eritrócitos/enzimologia , Masculino , Metemoglobinemia/tratamento farmacológico , Metemoglobinemia/genética , Azul de Metileno/administração & dosagem , Mutação de Sentido Incorreto , Sequenciamento Completo do Genoma/veterinária
17.
J Vet Intern Med ; 31(5): 1420-1429, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28804957

RESUMO

BACKGROUND: When dogs are transfused, blood compatibility testing varies widely but may include dog erythrocyte antigen (DEA) 1 typing and rarely cross-matching. OBJECTIVES: Prospective study to examine naturally occurring alloantibodies against red blood cells (RBCs) and alloimmunization by transfusion using 2 antiglobulin-enhanced cross-match tests. ANIMALS: Eighty client-owned anemic, 72 donor, and 7 control dogs. METHODS: All dogs were typed for DEA 1 and some also for DEA 4 and DEA 7. Major cross-match tests with canine antiglobulin-enhanced immunochromatographic strip and gel columns were performed 26-129 days post-transfusion (median, 39 days); some dogs had an additional early evaluation 11-22 days post-transfusion (median, 16 days). Plasma from alloimmunized recipients was cross-matched against RBCs from 34 donor and control dogs. RESULTS: The 2 cross-match methods gave entirely concordant results. All 126 pretransfusion cross-match results for the 80 anemic recipients were compatible, but 54 dogs died or were lost to follow up. Among the 26 recipients with follow-up, 1 dog accidently received DEA 1-mismatched blood and became cross-match-incompatible post-transfusion. Eleven of the 25 DEA 1-matched recipients (44%) became incompatible against other RBC antigens. No naturally occurring anti-DEA 7 alloantibodies were detected in DEA 7- dogs. CONCLUSIONS AND CLINICAL IMPORTANCE: The antiglobulin-enhanced immunochromatographic strip cross-match and laboratory gel column techniques identified no naturally occurring alloantibodies against RBC antigens, but a high degree of post-transfusion alloimmunization in dogs. Cross-matching is warranted in any dog that has been previously transfused independent of initial DEA 1 typing and cross-matching results before the first transfusion event.


Assuntos
Tipagem e Reações Cruzadas Sanguíneas/veterinária , Transfusão de Sangue/veterinária , Teste de Coombs/veterinária , Cães/imunologia , Animais , Anticorpos Anti-Idiotípicos/imunologia , Tipagem e Reações Cruzadas Sanguíneas/métodos , Eritrócitos/imunologia , Isoanticorpos/imunologia , Estudos Prospectivos
18.
J Thromb Haemost ; 4(12): 2616-22, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16961583

RESUMO

BACKGROUND: Canine factor VII (cFVII) deficiency, an autosomal recessive trait originally identified in research Beagles, is associated with a mild to moderate bleeding tendency. OBJECTIVE: Our aim was to identify and characterize the mutation causing cFVII deficiency. METHODS: In order to sequence the coding regions of the cFVII gene, we cloned the cFVII cDNA. Genomic DNA and plasma from FVII-deficient Beagles and obligate carriers were utilized. RESULTS: In all FVII-deficient dogs, we identified a single causative G to A missense mutation in exon 5, encoding the second epidermal growth factor-like domain, resulting in substitution of glycine 96 by glutamic acid, with plasma FVII coagulant activity of

Assuntos
Doenças do Cão/genética , Deficiência do Fator VII/genética , Deficiência do Fator VII/veterinária , Fator VII/genética , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Animais , Coagulação Sanguínea , Linhagem Celular , Clonagem Molecular , Análise Mutacional de DNA , Doenças do Cão/sangue , Cães , Fator VII/metabolismo , Deficiência do Fator VII/sangue , Frequência do Gene , Heterozigoto , Homozigoto , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Tempo de Protrombina , Proteínas Recombinantes/metabolismo , Alinhamento de Sequência , Análise de Sequência de Proteína , Tromboelastografia , Transfecção
19.
J Small Anim Pract ; 47(1): 10-3, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16417604

RESUMO

OBJECTIVES: To determine the distribution of blood types and to estimate the proportion of matings at risk for neonatal isoerythrolysis in non-pedigree domestic cats. METHODS: The present survey determined the frequency of blood types in 301 cats from four distinct regions of Turkey. Ethylenediaminetetraacetic acid-anticoagulated blood samples were typed by simple tube and slide agglutination assays. Serum obtained from type B cats and an anti-B solution, prepared with Triticum vulgaris, were used to determine type A and type B blood, respectively. RESULTS: Of the 301 cats typed, 220 had type A blood, 74 had type B and seven had type AB. There was a significant difference (P<0.01) between the locations of the cats, with fewer type B cats in the eastern than in the western parts of Turkey. Risk for the development of neonatal isoerythrolysis due to A-B mismatch was estimated to be 18.6 per cent. CLINICAL SIGNIFICANCE: The overall type B frequency in Turkish domestic cats is high. Thus, untyped transfusions in these cats carry a high risk of life-threatening acute haemolytic transfusion reactions and neonatal isoerythrolysis. It is therefore strongly recommended that blood typing be performed before breeding or transfusing in order to minimise blood type incompatibility risks.


Assuntos
Sistema ABO de Grupos Sanguíneos , Incompatibilidade de Grupos Sanguíneos/veterinária , Transfusão de Sangue/veterinária , Doenças do Gato/epidemiologia , Gatos/sangue , Animais , Incompatibilidade de Grupos Sanguíneos/epidemiologia , Incompatibilidade de Grupos Sanguíneos/etiologia , Tipagem e Reações Cruzadas Sanguíneas , Transfusão de Sangue/normas , Cruzamento , Doenças do Gato/etiologia , Fatores de Risco , Reação Transfusional , Turquia/epidemiologia
20.
J Vet Intern Med ; 30(6): 1864-1871, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27770509

RESUMO

BACKGROUND: Assessment of blood compatibility, typically by tube agglutination (TUBE) and hemolysis crossmatch or, less commonly, by blood typing and alloantibody screening, often is performed before blood transfusion in horses. In contrast, gel column (GEL) and immunochromatographic strip (STRIP) techniques are preferred for compatibility testing in dogs and cats. OBJECTIVE: To determine the accuracy of novel and standard crossmatch and typing methods. ANIMALS: Thirty-eight healthy horses, previously blood typed and alloantibody screened. METHODS: TUBE and GEL crossmatches were performed on 146 different recipient-donor pairs with 56 incompatible TUBE crossmatches. Crossmatches were compared by nonparametric area under the curve of receiver operating characteristic (AUC-ROC) analyses. Horses also were blood typed by the novel immunochromatographic Ca typing STRIP. RESULTS: Compared to TUBE crossmatch, GEL had excellent accuracy for agglutination (AUC-ROC = 0.903), but marginal accuracy for hemolysis (AUC-ROC = 0.639). Compared to macroscopic TUBE, microscopic TUBE had excellent accuracy for agglutination (AUC-ROC = 0.912). The predicted crossmatch compatibility based on blood type and alloantibody assay showed excellent accuracy compared to TUBE and GEL (AUC-ROC = 0.843 and 0.897, respectively). However, there were more recipient-donor pairs identified as incompatible by both TUBE and GEL than predicted by blood type and antibody screen, suggesting the presence of unidentified alloantibodies. A Ca typing STRIP exhibited 100% sensitivity and specificity for the 35 Ca+ and 3 Ca- horses tested. CONCLUSIONS AND CLINICAL RELEVANCE: Gel column crossmatch and Ca typing immunochromatographic strip are simple and accurate methods to evaluate clinical blood compatibility.


Assuntos
Tipagem e Reações Cruzadas Sanguíneas/veterinária , Transfusão de Sangue , Cavalos/sangue , Animais , Antígenos de Grupos Sanguíneos/análise , Tipagem e Reações Cruzadas Sanguíneas/métodos , Feminino , Masculino
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