Serial transverse enteroplasty (STEP) in case of short bowel syndrome: did we achieve our goal? A systematic review.

Surveys on Serial Transverse Enteroplasty (STEP) published in international literature (1 January 2003- 31 May 2021) were searched. Articles were included from 17 countries: 1/23 comparative and 22/23 cohort studies. STEP was performed on 308 patients: pediatrics, adults, and mixed ages. Pediatric group included 16 studies and the adult 6. Pre-STEP residual small bowell (SB) length for pediatrics and adults ranged from 18 to 26 cm and from 30 to 70 cm, respectively. Post-STEP increased SB length for pediatrics and adults ranged between 42 and 100% and 50% and 176%, respectively. For pediatrics, enteral autonomy was reached in 32.22% of cases, parenteral nutrition (PN) dependence was 36.11%, a repeated STEP procedure (Re-STEP) was needed in 17.22%, and a bowel transplant was performed in 6.11%. In adults, enteral autonomy was achieved in 52.38%, while PN dependence was 37.1%, and no Re-STEP or transplantation were required. For the mixed group, post-STEP bowel length increased from 2 to 50 cm, enteral autonomy was obtained in 43%, PN dependence was 57%, without reported Re-STEP or transplantation. Mortality rates were between 5.55% (pediatric) and 7.14% (adults). Preoperative length with preservation of ileocecal valve represented the main predictive factors to achieve enteral autonomy.

Popping the Balloon: A Giant Colonic Diverticulum Complicated by Bladder Neck Compression.

Giant colonic diverticulum, defined as a single diverticulum ≤ 4 cm, is rarely encountered. Due to the high incidence of complications related to the disease, obtaining the correct diagnosis early in the disease course is essential. Diagnosis is usually reached by conventional and cross-sectional abdominal radiography. Treatment decisions should be ideally made by a multidisciplinary discussion among surgeons, interventional radiologists, and the patient. The treatment of choice is the surgical management by open or laparoscopic approach.

Características de la atención pediátrica ambulatoria de familias nativas y migrantes / Characteristics of pediatric outpatient care of Argentine native and immigrant families

Introducción: Los procesos migratorios han aumentado a nivel mundial por múltiples causas. En nuestro país un 4.5% de población es extranjera y el 69% proviene de países limítrofes. La ley de Migraciones N°25.871 garantiza el goce igualitario de derechos a migrantes extranjeros y argentinos. La comuna 8 (CABA) presenta 19.9% de población extranjera. Su primer Nivel de Atención está a cargo, entre otros, de los Centros de Salud y Acción Comunitaria N° 5 y 18. El Hospital Juan P. Garrahan es centro de derivación regional. El objetivo de la investigación fue describir las características de la respuesta del Sistema de Salud, específicamente, comparar el acceso al primer nivel de prevención y la satisfacción con la actividad asistencial entre familias migrantes extranjeras y nativas. Métodos: Estudio multicéntrico, observacional y de corte transversal a través de entrevistas semiestructuradas a familias migrantes extranjeras y nativas entre Julio 2014 y Junio 2015. Los resultados se expresaron en frecuencias y porcentajes en forma global y comparativa entre ambos grupos. Resultados: Se encuestaron 287 familias, 52% nativas y 48% migrantes extranjeras. Se encontró menor acceso a trabajo formal en las últimas. Ambos grupos presentaron dificultad en la obtención de turnos, percibiendo trato más amable las primeras y mayor comprensión de indicaciones las segundas. En la asistencia médica se halló menor posibilidad de cumplir con indicaciones en familias migrantes. Conclusión: Los resultados reflejan similares características de atención pediátrica ambulatoria para familias nativas y migrantes extranjeras (AU)

Introduction: Migration has increased worldwide due to multiple causes. In our country, foreigners account for 4.5% of the population of whom 69% come from neighboring countries. The Law of Migration N°25.871 guarantees equal rights for immigrants and Argentinians. In Commune 8 (City of Buenos Aires) 19.9% of the population is foreign born. Their primary care attention is covered by, among others, Health Care and Community Action Centers N° 5 and 18. Hospital Juan P. Garrahan is a regional referral center. The aim of this study was to describe the characteristics of the response of the Health Care System, specifically, comparing access to and satisfaction with first-level care and disease prevention among immigrant and native Argentinian families. Methods: A multicenter, observational, cross-sectional study was conducted through semi-structured interviews with immigrant and native Argentinian families between July 2014 and June 2015. Results were expressed in rates and percentages overall and comparing both groups. Results: 287 families were interviewed, 52% were native and 48% immigrants. Reduced access to formal employment was found in the latter group. Both groups reported difficulties in obtaining appointments, perceiving a more friendly treatment in the former and better understanding of the indications in the latter group. Regarding medical care, less possibilities to adhere to the indications were found in immigrant families. Conclusion: Our results show similar pediatric outpatient health-care characteristics for native and immigrant families (AU)

Malformación Vascular Linfática en un Recién Nacido / Vascular Lymphatic Malformation in a Newborn

Las malformaciones vasculares son enfermedades poco frecuentes que representan errores en el desarrollo de los vasos sanguíneos. Las malformaciones vasculares linfáticas (MVL) consisten en lesiones congénitas del sistema linfático compuestas por canales y cavidades de diferente tamaño que resultan en la acumulación de linfa. Las malformaciones macroquísticas se manifiestan como tumoraciones palpables, de consistencia blanda pero no compresible. La localización más frecuente es en la cabeza y el cuello Se presenta el caso de un neonato con una malformación vascular linfática localizada en zona postero-lateral de cuello. Se arribó al diagnóstico en base a la clínica y las características ecográficas. El tratamiento fue muy satisfactorio luego de dos procedimientos de escleroterapias, presentando una excelente evolución

Vascular malformations are rare conditions associated to anomalies in blood vessel development. Lymphatic vascular malformations are congenital lesions consisting of channels and sacs of different size caused by lymph fluid acumulation. Macrocystic vascular malformations present as non-compresible soft tissue masses. They are generally found withinthe head and neck (70%-80%). We present the case of a newborn with a lymphatic vascular malformation in the posterior cervical área. The diagnosis was made on the basis of clinical and ultrasound findings. Sclerotherapy was succesful wihout signs of recurrence

Growth, carcass and meat quality traits in beef from Angus, Hereford and cross-breed grazing steers, and their association with SNPs in genes related to fat deposition metabolism.

Grazing steers from Angus and Hereford breeds, their cross-breeds and a three-way cross-breed (Limousin × Angus-Hereford) were measured for growth, carcass and meat quality traits. Breed effects were studied, and the association of SNPs with fat deposition and fatty acid (FA) composition (leptin, melanocortin-4 receptor, stearoyl-CoA desaturase, FA synthase and thyroglobulin) was tested. Limousin cross-breed showed the greatest final body weight, ultrasound rib eye area, dressing percentage, carcass and leg length, and the lowest backfat thickness and intramuscular fat content. Genetic groups had similar pH, shear force, cooking loss, L* and b* and n-6:n-3 ratio. Meat from 1/2-Angus presented greater a* than Limousin cross-breed. Whereas Angus had the highest total SFA content, Hereford had the lowest total SFA and the highest total MUFA. Limousin cross-breed had greater content of several individual PUFAs, total PUFA, n-6 and n-3 FA than Angus and 1/2-Angus. Leptin and FA synthase were associated with some FAs, supporting their influence over fat metabolism for grazing animals.

Effectiveness of a 95 SNP panel for the screening of breed label fraud in the Chinese meat market.

Breed assignment has proved to be useful to control meat trade and protect the value of special productions. Meat-related frauds have been detected in China; therefore, 95 SNPs selected from the ISAG core panel were evaluated to develop an automated and technologically updated tool to screen breed label fraud in the Chinese meat market. A total of 271 animals from four Chinese yellow cattle (CYC) populations, six Bos taurus breeds, two Bos indicus and one composite were used. The allocation test distinguished European, Japanese and Zebu breeds, and two Chinese genetic components. It correctly allocated Japanese Black, Zebu and British breeds in 100, 90 and 89% of samples, respectively. CYC evidenced the Zebu, Holstein and Limousin introgression. The test did not detect CYC components in any of the 25 samples from Argentinean butchers. The method could be useful to certify Angus, Hereford and Japanese Black meat, but a modification in the panel would be needed to differentiate other breeds.

Foreign meat identification by DNA breed assignment for the Chinese market.

Methods for individual identification are usually employed for traceability, whereas breed identification is useful to detect commercial frauds. In this study, Chinese Yellow Cattle (CYC) samples plus data from six Bos taurus breeds, two Bos indicus breeds, and one composite breed were used to develop an allocation test based on 22 microsatellites. The test allowed discriminating all foreign breeds from the CYC, although some CYC individuals were wrongly allocated as Limousin or Holstein, probably due to the recent introduction of these breeds into China. In addition, CYC evidenced a previously reported Zebu cline (south-north) and a possible structure within the B. taurus component that should be confirmed. An independent test performed with meat samples of unknown breed origin from Argentina allocated 92% of them to either Angus, Hereford, or their crossbreed, but none was identified as CYC. We conclude that the test is a suitable tool to certify meat of foreign breed origin and to detect adulterations of CYC beef labeled as imported meat.

Haplotype determination of the upstream regulatory region and the second exon of the BoLA-DRB3 gene in Holstein cattle.

Polymorphisms of the BoLA-DRB3 gene are located primarily in the second exon [antigen binding site (ABS)] and, to a lesser extent, in the upstream regulatory region (URR). It can be hypothesised that exon 2 and the URR are under different types of natural selection. The aim of this work was to determine the URR-exon 2 haplotypes; 34 Holstein samples were genotyped by direct sequencing. A total of 7 URR alleles and 23 exon 2 alleles were detected, and 3 of the URR alleles were novel. Our results may suggest that no relationship exists between the URR and exon 2 of the BoLA-DRB3 gene (linkage disequilibrium P value > 0.05), most likely due to recombination over time. Our results also suggest that both regions of class II genes may be included in the development of new genotyping methods based on next-generation DNA sequencing technologies.

Association between BoLA-DRB3 and somatic cell count in Holstein cattle from Argentina.

Different studies have proved that the resistance/susceptibility to mastitis is genetically determined. The major histocompatibility complex in cows is known as bovine lymphocyte antigen (BoLA). Genes from the BoLA have been associated with the occurrence of infectious diseases such as mastitis and leukosis, especially the BoLA-DRB gene. The object of the present study was to detect associations between BoLA-DRB3 alleles and somatic cell count (SCC), as an indicator of resistance/susceptibility to mastitis in Holstein cattle (N = 123) from La Pampa, Argentina. Fisher's exact test and Woolf-Haldane odds ratio were applied to study the association between SCC and BoLA-DRB3 allele frequencies. Significant association was noted between BoLA-DRB3.2*23 and *27 alleles (p < 0.05) and protective or susceptibility effects, respectively. In addition, alleles BoLA-DRB3.2*20 and *25 exhibit suggestive association with high SCC (p < 0.1). These results were partially in agreement with data reported from Japanese Holstein cattle, but differed from those published by other authors. A possible explanation for the contrasting results could be that the mastitis is a multifactor disease caused by different pathogens. Moreover, most of the studies were carried out using PCR-RFLP method, which has less resolution than PCR-SBT because PCR-RFLP defined alleles included more than one sequenced alleles.

South American camelid illegal traffic detection by means of molecular markers.

South American camelids comprise the wild species guanaco and vicuña and their respective domestic relatives llama and alpaca. The aim of the present study was to determine by DNA analysis to which of these species belong a herd of camelids confiscated from a llama breeder but alleged to be alpacas by the prosecution, and to evaluate the usefulness of mitochondrial and autosomal DNA markers to solve judicial cases involving camelid taxa. Cytochrome b and cytochrome oxidase I mitochondrial genes and 7 STR were analyzed in 25 confiscated samples. Mitochondrial results were inconclusive because 18 of the sequestered samples presented haplotypes that corresponded to the guanaco haplogroup and the remaining seven belonged to a vicuña linage. Microsatellite data of casework samples and llama reference samples revealed different genetic profiles by the presence of private alleles at two microsatellites suggesting that the confiscated animals could be alpaca, or at least alpaca hybrids instead of pure llama.

Characterization and validation of bovine gonadotripin releasing hormone receptor (GNRHR) polymorphisms.

Gonadotropin releasing hormone and its receptor (GNRHR) play a critical role in sexual differentiation and reproduction. Available evidence shows a strong genetic component in the timing of puberty. In bovines, there are significant differences within and among beef breeds in the time when bulls reach puberty. Despite its economic importance, there are not many SNPs or genetic markers associated with this characteristic. The aims of the study were to identify DNA polymorphism in the bovine GNRHR by re-sequencing analysis, determine haplotype phases, and perform a population study in a selected tag SNP in six breeds. Eight SNPs were detected, including: one in the Upstream Regulatory Region (URR), five in the coding regions, and two in non-coding regions. This polymorphism level corresponds to one variant every 249.4bp and a global nucleotide diversity of 0.385. Two haplogroups comprising nine haplotypes and two linkage blocks were detected. Despite 5 tag SNPs were required to capture all variability, just one SNP allowed to define both haplogroups, and only two SNPs were needed to differentiate the most common haplotypes. An additional taq SNP was necessary to identify both URR variants. Allele-frequency analysis of a selected taq SNP among breeds showed a geographical cline. European Bos taurus breeds had lower frequencies of the C allele than B. indicus type cattle, while Creole cattle and Wagyu breeds had intermediate frequency. There was a significant correlation between frequency profile and timing of puberty among the studied breeds, which seems to suggest that genetic variation within bovine GNRHR gene could explain at least part of the reported variability.

History and selection imprinting on genetic relationships among bovine breeds analyzed trough five genes related with marbling.

Many candidate genes have been suggested as responsible for marbling in beef cattle, for instance diacylglycerol O-acyltransferase 1, thyroglobulin, growth hormone, leptin and stearoyl CoA desaturase. The objective of the present work was to evaluate the polymorphisms of five SNPs of these candidate genes in 389 animals of 18 Bos Taurus and Bos indicus breeds. The obtained results were compared with ones previously obtained with STRs and loci related to milk production in these populations. Moreover we analyzed whether the phylogenies reconstructed using SNPs associated with marbling resulted in the known tree topology. The tree constructed with UPGMA, using genetic distance D(A), exhibit a topology partially consistent with the historical origin of breeds. The result observed in the Correspondence Analysis coincided with the topology of the UPGMA tree. This work allowed us to evaluate the five SNPs genetic diversity and to demonstrate that the grouping of the breeds may be the result of its history, selection process, or both at once.

Effect of consanguinity on Argentinean Angus beef DNA traceability.

Since the 1990s several authors have envisaged the use of DNA to certify meat origin. Two major parameters must be assessed before a DNA based traceability protocol can be implemented in the food chain: (i) the information content of a DNA marker set in a specific livestock breed or group of breeds; (ii) the minimum number of DNA markers needed to obtain a statistically acceptable match probability. The objective of the present work was to establish the effect of different levels of inbreeding in the matching efficiency, and the minimum number of microsatellite markers needed, in a DNA based meat traceability program, starting from an 11-microsatellite marker panel. Samples were obtained from beef production farms in South America, where animals are typically bred under pasture-based extensive conditions. Three groups of animals with different consanguinity rates were sampled. Exclusion power (Q) was higher than 0.999998 and match probability lower than 3.01E-08, for the whole set of markers within each group. Both values were affected by consanguinity. To reach a two mismatch criteria exclusion power (Q(2)) of 99.99, six markers were needed in unrelated animals whereas seven markers were needed in related animals. To reach Q(2)=99.9999, 8 and 10 microsatellite markers, respectively, were needed. In general, one or two more microsatellite markers were needed to identify consanguineous animals. This study proved the DNA marker set used to be suitable for the identification of the meat from all slaughtered animals in Argentina, per week, month, and year.

[Preoperative embolisation with absorbable gelatine sponge in intracranial meningiomas]. / Embolización preoperatoria con esponja de gelatina absorbente en meningiomas intracraneales.

AIMS: The purpose of this study was to evaluate the benefits of preoperative embolisation with an absorbable gelatine sponge in selected intracranial meningiomas. PATIENTS AND METHODS: We performed a retrospective study of a series of 33 patients who had undergone surgery for meningiomas with a diameter of over 4 cm between the years 2000 and 2007. Two groups were analysed: group A (n = 16) with preoperative embolisation and group B (n = 17) without it. Eligibility criteria for embolisation were: exclusive or predominant irrigation through the external carotid artery, high tumour flow and pronounced vascularisation through the pial branches. The location of the lesion was evaluated preoperatively; blood losses, number of units of blood transfused, surgery time and surgeon's opinion were evaluated intraoperatively. RESULTS: A statistically significant difference was found between the group of embolised patients and those who had not been embolised as far as surgery time (217.5 +/- 69.61 versus 291.76 +/- 56.94 min; p =< 0.002) and blood loss (613.75 +/- 231.42 versus 987.65 +/- 206.68 mL; p => 0.001) were concerned. A positive coloration (r = 0.568; p = 0.001) was found between surgery time and blood loss. No statistically significant relation was observed between age and the number of units of blood transfused. Embolisation was considered to be beneficial by 75% of surgeons. CONCLUSIONS: Preoperative embolisation with an absorbable gelatine sponge in patients with intracranial meningiomas with a diameter above 4 cm and exclusive or predominant irrigation by the external carotid artery is effective and safe; it also reduces intraoperative bleeding and surgery time.

HCV infection induces mitochondrial bioenergetic unbalance: causes and effects.

Cells infected by the hepatitis C virus (HCV) are characterized by endoplasmic reticulum stress, deregulation of the calcium homeostasis and unbalance of the oxido-reduction state. In this context, mitochondrial dysfunction proved to be involved and is thought to contribute to the outcome of the HCV-related disease. Here, we propose a temporal sequence of events in the HCV-infected cell whereby the primary alteration consists of a release of Ca(2+) from the endoplasmic reticulum, followed by uptake into mitochondria. This causes successive mitochondrial alterations comprising generation of reactive oxygen and nitrogen species and impairment of the oxidative phosphorylation. A progressive adaptive response results in an enhancement of the glycolytic metabolism sustained by up-regulation of the hypoxia inducible factor. Pathogenetic implications of the model are discussed.

Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.

AIMS AND BACKGROUND: Various genes have been identified for monogenic disorders resembling Parkinson's disease. The products of some of these genes are associated with mitochondria and have been implicated in cellular protection against oxidative damage. In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism. RESULTS: Patient's fibroblasts did not show variation in the mtDNA copy number or in the expression of the oxidative phosphorylation complexes. Sequence analysis of the patient's mtDNA presented two new missense mutations in the ND5 (m.12397A>G, p.T21A) and ND6 (m. 14319T>C, p.N119D) genes coding for two subunits of complex I. The two mutations were homoplasmic in both the patient and the patient's mother. Patient's fibroblasts resulted in enhanced constitutive production of the superoxide anion radical that was abrogated by inhibitor of the complex I. Moreover enzyme kinetic analysis of the NADH:ubiquinone oxidoreductase showed changes in the substrates affinity. CONCLUSION: To our knowledge, this is the first report showing co-segregation of a Parkinson's disease related nuclear gene mutation with mtDNA mutation(s). Our observation might shed light on the clinical heterogeneity of the hereditary cases of Parkinson's disease, highlighting the hitherto unappreciated impact of coexisting mtDNA mutations in determining the development and the clinical course of the disease.

Mitochondrial dysfunction in hepatitis C virus infection.

The mechanisms of liver injury in chronic hepatitis C virus (HCV) infection are poorly understood though HCV induces a state of hepatic oxidative stress that is more pronounced than that present in many other inflammatory diseases. This mini-review will focus on recent findings revealing an unexpected role of mitochondria in providing a central role in the innate immunity and in addition will illustrate the application of stably transfected human-derived cell lines, inducibly expressing the entire HCV open reading frame for in vitro studies on mitochondria. Results obtained by a comparative analysis of the respiratory chain complexes activities along with mitochondrial morpho-functional confocal microscopy imaging show a detrimental effect of HCV proteins on the cell oxidative metabolism with specific inhibition of complex I activity, decrease of mtDeltaPsi, increased production of reactive oxygen species. A possible de-regulation of calcium recycling between the endoplasmic reticulum and the mitochondrial network is discussed to provide new insights in the pathogenesis of hepatitis C.

Analysis of a polymorphism in the DGAT1 gene in 14 cattle breeds through PCR-SSCP methods.

The diacylglycerol O-acyltransferase (DGAT1) is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. Recent work have evidenced a significant association between lysine at amino acid position 232 with elevated milk fat content, while an alanine at this position is associated with lowered milk fat content. The aim of the present work was to develop a simple and inexpensive PCR-SSCP assay in order to discriminate the CG/AA alleles in exon 8 of the DGAT1 gene. In addition, this method was used to analyze the polymorphism of the DGAT1 through PCR-SSCP methods in 14 populations of cattle from Argentine, Bolivia and Uruguay. The PCR primers were designed from GenBank reported sequences. In this study, we found three PCR-SSCP variants, which were denominated from "A" to "C". However, DNA sequencing analysis showed that "A" variant corresponded with the A allele, while both "B" and "C" observed pattern have the motif AA at positions 10,433-10,434 (K allele), being two alternative conformations of the same DNA sequence. Both variants were detected within each breed with the exception of Hereford, and the heterozygosity varied between 0.000 and 0.524. The gene frequency analysis evidenced significant differences among the studied breeds (F(ST) = 0.325, p = 0.000). European Bos taurus breeds, with the exception of Jersey breed, showed the lowest frequency of the K allele, while highest K allele frequencies were harboured by Bos indicus type cattle. In addition, unselected South American Creole cattle breeds and the synthetic Brangus breed had intermediate allele frequencies.

New polymorphisms for the BoLA-DRB3 upstream regulatory region.

Two new alleles, named BoLA-DRB3-P*06 and BoLA-DRB3-P*07, have been identified for the upstream regulatory region of the BoLA-DRB3 gene. The 228-bp nucleotide sequences of the promoter comprising the W, X, Y, CAAT and TATA regulatory boxes were analysed. The BoLA-DRB3-P*06 exhibits one insertion between the W and X boxes, and one transition between the X and Y boxes. On the other hand, the BoLA-DRB3-P*07 showed one insertion in the X box.