Risk factors for severe morbidity and definitive stoma after elective surgery for sigmoid diverticulitis: a multicenter national cohort study.

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).

ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.

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.

CMAH genotyping survey for blood types A, B and C (AB) in purpose-bred cats.

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.

Bilirubin Encephalopathy in a Domestic Shorthair Cat With Increased Osmotic Fragility and Cholangiohepatitis.

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.

Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae).

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.

Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.

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.

Bile duct injury and use of cholangiography during laparoscopic cholecystectomy.

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.

Colorectal cancer complicating inflammatory bowel disease: a comparative study of Crohn's disease vs ulcerative colitis in 34 patients.

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.

Mucosal advancement flap anoplasty for chronic anal fissure resistant to conservative therapy.

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.

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs.

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.