Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses.

BACKGROUND: Distichiasis, an ocular disorder in which aberrant cilia (eyelashes) grow from the opening of the Meibomian glands of the eyelid, has been reported in Friesian horses. These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye. Friesian horses represent the vast majority of reported cases of equine distichiasis, and as the breed is known to be affected with inherited monogenic disorders, this condition was hypothesized to be a simply inherited Mendelian trait. RESULTS: A genome wide association study (GWAS) was performed using the Axiom 670 k Equine Genotyping array (MNEc670k) utilizing 14 cases and 38 controls phenotyped for distichiasis. An additive single locus mixed linear model (EMMAX) approach identified a 1.83 Mb locus on ECA5 and a 1.34 Mb locus on ECA13 that reached genome-wide significance (pcorrected = 0.016 and 0.032, respectively). Only the locus on ECA13 withstood replication testing (p = 1.6 × 10- 5, cases: n = 5 and controls: n = 37). A 371 kb run of homozygosity (ROH) on ECA13 was found in 13 of the 14 cases, providing evidence for a recessive mode of inheritance. Haplotype analysis (hapQTL) narrowed the region of association on ECA13 to 163 kb. Whole-genome sequencing data from 3 cases and 2 controls identified a 16 kb deletion within the ECA13 associated haplotype (ECA13:g.178714_195130del). Functional annotation data supports a tissue-specific regulatory role of this locus. This deletion was associated with distichiasis, as 18 of the 19 cases were homozygous (p = 4.8 × 10- 13). Genotyping the deletion in 955 horses from 54 different breeds identified the deletion in only 11 non-Friesians, all of which were carriers, suggesting that this could be causal for this Friesian disorder. CONCLUSIONS: This study identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. Further functional analysis in relevant tissues from cases and controls will help to clarify the precise role of this deletion in normal and abnormal eyelash development and investigate the hypothesis of incomplete penetrance.

[Experience in the management of battery ingestion in a pediatric hospital]. / Experiencia en el manejo de ingesta de pilas en un hospital pediátrico.

INTRODUCTION: As button batteries have become worldwide used, there have been an increase in its ingest cases, mostly in pediatric population. Also, it is in this group where most complications and death cases are presented according to latest publications. In Colombia there are not public programs that pursuit to prevent the ingestion of this kind of foreign body. We report our experience in the management of these patients in a pediatric hospital. MATERIALS AND METHODS: We performed a retrospective review of cases where patients attend to the emergency room for suspected foreign body ingestion between January 2007 and December 2015. In a total of 46 cases the foreign body was a battery. RESULTS: 85% where under 5 years old. 68% present symptoms. The most frequent location and with the worst complications was the esophagus. All patients that required ICU in the postoperative period where also in that group. There was one case of mortality. DISCUSSION: There must be an education plan for health personal and general population regarding the danger that represent button batteries at the reach of children, and the urgency that implies its attention once an ingestion has occurred. It is important to establish protocols in each institution for an appropriate and urgent extraction.

INTRODUCCION: Con la popularización del uso de pilas de botón se ha visto una tendencia al aumento en los casos de ingesta de estas, principalmente en la población pediátrica. Además, es en esta población en donde las mayores secuelas se presentan y en la que se ubican la mayoría de los casos de mortalidad publicados en estudios internacionales. En Colombia, aún no se disponen de estadísticas completas al respecto. No se tiene una cultura ni políticas de prevención de ingesta de este tipo de cuerpos extraños. En este trabajo reportamos nuestra experiencia en el manejo de estos pacientes. MATERIAL Y METODOS: Se realizó una revisión retrospectiva de los casos de pacientes que consultaron por sospecha de ingesta de cuerpos extraños desde enero de 2007 hasta diciembre de 2015. Se obtuvieron 46 casos que correspondían a ingesta de pilas. RESULTADOS: El 85% eran pacientes menores de 5 años y el 68% presentaba algún síntoma previo al ingreso. La localización más frecuente y con mayor morbilidad fue el esófago. Todos los pacientes que requirieron UCI (Unidad de Cuidados Intensivos) post-extracción pertenecían a ese grupo. Hubo un caso de mortalidad relacionado. DISCUSION: Se debe educar a la población y al personal en salud respecto al peligro que representa que las pilas de botón estén al alcance de los niños y la urgencia que debe tener su atención una vez se ha ingerido este cuerpo extraño. Es importante establecer protocolos de manejo en las instituciones para lograr la extracción de estos dispositivos de manera urgente.

Multidrug-resistant pathogenic Escherichia coli isolated from wild birds in a veterinary hospital.

Wild birds are carriers of Escherichia coli. However, little is known about their role as reservoirs for extra-intestinal pathogenic E. coli (ExPEC). In this work we investigated E. coli strains carrying virulence genes related to human and animal ExPEC isolated from free-living wild birds treated in a veterinary hospital. Multidrug resistance was found in 47.4% of the strains, but none of them were extended-spectrum beta-lactamase producers. Not only the virulence genes, but also the serogroups (e.g. O1 and O2) detected in the isolates of E. coli have already been implicated in human and bird diseases. The sequence types detected were also found in wild, companion and food animals, environmental and human clinical isolates in different countries. Furthermore, from the 19 isolates, 17 (89.5%) showed a degree of pathogenicity on an in vivo infection model. The isolates showed high heterogeneity by pulsed-field gel electrophoresis indicating that E. coli from these birds are clonally diverse. Overall, the results showed that wild birds can be reservoirs and/or vectors of highly pathogenic and multidrug-resistant E. coli that have the potential to cause disease in humans and poultry.

Comment on "Elucidation of charge-transfer SERS selection rules by considering the excited state properties and the role of electrode potential" by M. Mohammadpour, M. H. Khodabandeh, L. Visscher and Z. Jamshidi, Phys. Chem. Chem. Phys., 2017, 19, 7833.

The differences between alternative approaches for quantifying the complex effect of the electronic structure of charged metal-molecule hybrids in SERS (the so-called chemical enhancement mechanism) are highlighted. The discussion is focussed on the predictions obtained by using different methodological tools for modelling the role of the electrode potential in the SERS relative intensities. Finite electric fields are used in the commented paper for this purpose, but we have found some inconsistences in the results and the method for calculating the Raman intensities is not made sufficiently clear, which prevents the assessment of the results.

A Non-Reciprocal Autosomal Translocation 64,XX, t(4;10)(q21;p15) in an Arabian Mare with Repeated Early Embryonic Loss.

Balanced autosomal translocations are a known cause for repeated early embryonic loss (REEL) in horses. In most cases, carriers of such translocations are phenotypically normal, but the chromosomal aberration negatively affects gametogenesis giving rise to both genetically balanced and unbalanced gametes. The latter, if involved in fertilization, result in REEL, whereas gametes with the balanced form of translocation will pass the defect into next generation. Therefore, in order to reduce the incidence of REEL, identification of translocation carriers is critical. Here, we report about a phenotypically normal 3-year-old Arabian mare that had repeated resorption of conceptuses prior to day 45 of gestation and was diagnosed with REEL. Conventional and molecular cytogenetic analyses revealed that the mare had normal chromosome number 64,XX but carried a non-mosaic and non-reciprocal autosomal translocation t(4;10)(q21;p15). This is a novel translocation described in horses with REEL and the first such report in Arabians. Previous cases of REEL due to autosomal translocations have exclusively involved Thoroughbreds. The findings underscore the importance of routine cytogenetic screening of breeding animals.

New amino acid changes in drug resistance sites and HBsAg in hepatitis B virus genotype H.

Long-term treatment with retrotranscriptase (RT) inhibitors eventually leads to the development of drug resistance. Drug-related mutations occur naturally and these can be found in hepatitis B virus (HBV) carriers who have never received antiviral therapy. HBsAg are overlapped with RT domain, thus nucleot(s)ide analogues (NAs) resistance mutations and naturally-occurring mutations can cause amino acid changes in the HBsAg. Twenty-two patients with chronic hepatitis B were enrolled; three of them were previously treated with NAs and 19 were NAs-naïve treated. HBV reverse transcriptase region was sequenced; genotyping and analysis of missense mutations were performed in both RT domain and HBsAg. There was predominance of genotype H. Drug mutations were present in 18.2% of patients. Classical lamivudine resistance mutations (rtM204V/rtL180M) were present in one naïve-treatment patient infected with genotype G. New amino acid changes were identified in drug resistance sites in HBV strains from patients infected with genotype H; rtQ215E was present in two naïve-NAs treatment patients and rtI169M was identified in a patient previously treated with lamivudine. Mutations at sites rt169, rt204, and rt215 resulted in the Y161C, I195M, and C206W mutations at HBsAg. Also, new amino acid changes were identified in B-cell and T-cell epitopes and were more frequent in HBsAg compared to RT domain. In conclusion, new amino acid changes at antiviral resistance sites, B-cell and T-cell epitopes in HBV genotype H were identified in Mexican patients.

[Enterocolitis associated with Hirschsprung's Disease. Experience in a pediatric teaching hospital]. / Enterocolitis asociada a enfermedad de Hirschsprung. Experiencia en un Hospital Universitario Pediátrico.

Hirschsprung's associated enterocolitis (HAEC) is the most serious and potentially fatal complication of the disease, with a significant morbidity and mortality. The effect of HAEC varies remarkably among the publications since the lack of consensus and the absence of established diagnostic criteria. Patients diagnosed with Hirschsprung's disease (HD) were selected and treated between January 2009 and December 2012 in Fundación HOMI, finding 41 cases of HD, 6 of them with total aganglionosis. 76% of the patients had HAEC, 18 of them during the neonatal period and 6 of them after the final pull-through; 23% presented recurrent enterocolitis episodes. HAEC was the first clinical manifestation in 25 (61%) of the patients with HD. From HD patients limited to the rectum and sigmoid 67% had enterocolitis unlike TCA (total colonic agangliniosis) cases in which all presented HAEC episodes. In our setting, HAEC remains to be an unknown complication; this revision demonstrates its high incidence and mortality.

La enterocolitis asociada a la enfermedad de Hirschsprung (EAEH) es la complicación más grave y potencialmente fatal de la enfermedad, con una morbilidad y mortalidad significativas. La incidencia de EAEH varía notablemente entre las publicaciones dada la falta de consenso y la ausencia de criterios diagnósticos establecidos. Se seleccionaron los pacientes con diagnóstico de enfermedad de Hirschsprung (EH) tratados entre Enero de 2009 a Diciembre de 2012 en la Fundación Hospital de La Misericordia (HOMI) encontrando 41 casos de EH, 6 de ellos con aganglionosis total. En el 76% de los pacientes se realizó el diagnóstico de EAEH, 18 de ellos en el periodo neonatal y 6, tras el descenso definitivo; 23% presentaron episodios de enterocolitis recurrente. La EAEH fue la primera manifestación clínica en 25 (61%) de los pacientes con EH. De los pacientes con EH limitada al recto y sigmoides, un 67% tuvieron enterocolitis a diferencia de los casos de aganglionosis total del colon (ATC), donde todos presentaron episodios de EAEH.

Comparative organization and gene expression profiles of the porcine pseudoautosomal region.

The pseudoautosomal region (PAR) has important biological functions in spermatogenesis, male fertility and early development. Even though pig (Sus scrofa, SSC) is an agriculturally and biomedically important species, and its genome is sequenced, current knowledge about the porcine PAR is sparse. Here we defined the PAR in SSCXp/Yp by demarcating the sequence of the pseudoautosomal boundary at X:6,743,567 bp in intron 3-4 of SHROOM2 and showed that SHROOM2 is truncated in SSCY. Cytogenetic mapping of 20 BAC clones containing 15 PAR and X-specific genes revealed that the pig PAR is largely collinear with other mammalian PARs or Xp terminal regions. The results improved the current SSCX sequence assembly and facilitated distinction between the PAR and X-specific genes to study their expression in adult and embryonic tissues. A pilot analysis showed that the PAR genes are expressed at higher levels than X-specific genes during early development, whereas the expression of PAR genes was higher at day 60 compared to day 26, and higher in embryonic tissues compared to placenta. The findings advance the knowledge about the comparative organization of the PAR in mammals and suggest that the region might have important functions in early development in pigs.

Low-dose amphotericin B and murine dialyzable spleen extracts protect against systemic candida infection in mice.

Candida albicans causes opportunistic systemic infections with high mortality (30%-50%). Despite significant nephrotoxicity, amphotericin (AmB) is still used for the treatment of this serious fungal infection. Therefore, alternative treatments are urgently needed. Dialyzable leukocyte extracts have been used successfully to treat patients with mucocutaneous candidiasis, but their effectiveness in systemic candidiasis has not been evaluated. In this study, low-dose AmB (0.1 mg/kg) plus 10 pg of murine dialyzable spleen extracts (mDSE) were tested in a systemic candidiasis mouse model. Survival, tissue fungal burden, kidney damage, kidney cytokines, and serum levels of IL-6 and hepcidin were evaluated. Our results showed that the combined treatment of low-dose AmB plus mDSE improved survival and reduced kidney fungal burden and histopathology; these effects correlated with increased kidney concentration of IFN- γ and TGF- ß 1, decreased levels of TNF- α , IL-6, and IL-10, as well as high levels of systemic IL-6 and hepcidin. Low-dose AmB and mDSE synergized to clear the infectious agent and reduced tissue damage, confirming the efficacy of a low dose of AmB, which might decrease the risk of drug toxicity. Further studies are necessary to explore these findings and its implications in future therapeutic approaches.

Temporomandibular joint dysfunction in various rheumatic diseases.

Temporomandibular disorder (TMD) is an inclusive term in which those conditions disturbing the masticatory function are embraced. It has been estimated that 33% of the population have signs of TMD, but less than 5% of the population will require treatment. The objective of this study was to measure the frequency of TMD in rheumatoid arthritis (RA), osteoarthrosis (OA), ankylosing spondylitis (AS) and systemic lupus erythematosus, and to define the limitations in everyday's life that patients perceive when present. A six-month survey of consecutive outpatients in a rheumatology clinic in a teaching hospital in Mexico was carried out. We defined TMD as: 1) the presence of pain; 2) difficulty on mouth opening, chewing or speaking; 3) the presence of non-harmonic movements of the temporomaxilar joints. All three characteristics had to be present. Z test was used to define differences between proportions. We present the results of 171 patients. Overall, 50 patients had TMD according to our operational definition (29.24%). Up to 76% of the sample had symptoms associated with the condition. TMD is more frequent in OA and in AS (29.24% vs 38% OA, P=0.009; 39% AS; P=0.005). We found no association between the severity of TMD and the request for specific attention for the discomfort produced by the condition. Only 8 of 50 (16%) patients with TMD had requested medical help for their symptoms, and they were not the most severe cases. TMD is more frequent in RA and OA. Although it may produce severe impairment, patients seem to adapt easily.

[Endoscopic balloon dilatation of esophageal strictures in children]. / Dilatación endoscópica con balón de estenosis esofágica en niños.

OBJECTIVES: To evaluate the effectiveness and safety of endoscopic balloon dilatation in children with esophageal stenosis. PATIENTS AND METHODS: Retrospective study of patients treated in the last 5 years, diagnosed with esophageal stricture. Response to dilatation was defined as excellent when there was no need for any additional dilatation for recurrent dysphagia, satisfactory when they set out to 5 sessions, acceptable with more than 5 sessions, and inadequate if there was no improvement of dysphagia with dilation. The treatment was effective when dysphagia remained grade 0 or 1 was kept for more than 12 months after the last dilatation session. RESULTS: 576 procedures were performed in 89 children, with an average of 6,47 per patient (range 1-33). The esophageal stenosis was secondary to esophageal atresia repair in 51 cases (57,3%), injury by caustic in 19 patients (21,3%) and gastroesophageal reflux 11 cases (12,3%); compromised aged between 1-202 months (mean 36,1). Response to dilatation was excellent in 11 patients (13.9%), satisfactory in 27 (34.1%), fair in 25 (31.6%), and inadequate in 16(20.2%). Ten patients (8.9%) were lost to follow up. Thirty-four (38.2%) patients were diagnosed with concomitant gastroesophageal reflux disease, every one recieved medical management and 7 (20,5%) underwent antireflux surgery. The treatment was effective in 63 cases (79.7%) and ineffective in 16 (20.2%), most of the latter with gastroesophageal reflux. There were 8 complications (1,38%), all esophageal perforations. CONCLUSIONS: Endoscopic balloon dilatation can be accomplished safely and effectively as a first-line therapy for the management of esophageal stenosis.

[Magnet intestinal lesions. Case series]. / Lesiones intestinales por imanes. Serie de casos.

The ingestion of foreign bodies is a common trouble in the pediatric population, and most of cases occur between 6 months and 3 years. In general the vast majority of foreign bodies are not associated with morbidity or mortality. Ingestion of two or more magnets can lead to obstruction, fistulas, ulceration, perforation and bowel volvulus. In this series we present 4 cases of patients ingesting multiple magnets and who due to the ingested foreign body characteristics and clinical profile required surgical treatment.

YouTube® in Spanish as an information source for patients with autoimmune hepatitis.

INTRODUCTION AND AIM: A large number of patients with autoimmune hepatitis (AH) seek information about their disease on the Internet. The reliability, comprehensiveness, and quality of said information in Spanish has not been studied. Our aim was to describe the characteristics of the information about AH on YouTube®. METHODS: An analytic observational study evaluated videos in Spanish about AH available on YouTube®, describing their general characteristics, viewer engagement, and information sources. Standardized tools were utilized to analyze reliability (DISCERN), comprehensiveness, and overall quality (Global Quality Score [GQS]). RESULTS: One hundred videos were included, 93% of which provided information from healthcare professionals (group 1), and 7% of which reflected patient opinions (group 2). There were differences in the median reliability (DISCERN 4 vs 2, p ≤ 0.05) and comprehensiveness (4 vs 2, p ≤ 0.05) scores between groups, but equal overall quality (GQS 3 vs 2, p = 0.2). Reliability (DISCERN 4; RIC 3-4) and comprehensiveness (4.5; IQR 3-5) were higher in videos by professional organizations, compared with those by independent users, healthcare information websites, and for-profit organizations (DISCERN 3; IQR 2.5-3.5) (p < 0.001). Reliability (DISCERN 2; IQR 1.5-3), comprehensiveness (2; IQR 1.5-2.5), and quality (GQS 2.5; IQR 1.5-3.5) were lower for videos made by for-profit organizations. CONCLUSION: The majority of videos about AH in Spanish on YouTube® have good reliability, comprehensiveness, and quality. Videos created by academic organizations had higher scores, thus their collaboration, with respect to patient opinion videos, is suggested.

Effects of resistance training on matrix metalloproteinase-2 activity and biomechanical and physical properties of bone in ovariectomized and intact rats.

The purpose of this study was to investigate the influence of resistance training on the activity of matrix metalloproteinase (MMP)-2 and bone biomechanical properties in ovariectomized and intact rats. Forty-eight female rats were divided into two distinct groups, ovariectomized (OVX) and intact (Int), which were subdivided into three similar subgroups: sedentary, acute exercise and chronic exercise. Rats performed a resistance training for 12 weeks in which animals climbed a vertical ladder of 1.1 m with weights attached to their tails. Sessions were performed with an interval of 3, 4-9 and 8-12 days scaled dynamic movements of climbing. Biomechanical and physical analyses were performed using a universal testing machine, and MMP-2 activity analysis by zymography. Bone density (BD), mineral density (MD), maximum load and fracture load was reduced in sedentary and acute exercise OVX groups compared with the sedentary intact group (P<0.05); in contrast, chronically trained groups (OVX and Int) showed a significant increase in BD, MD and fracture load compared with all the other groups. MMP-2 activity in chronically trained groups also showed a significant increase, while the sedentary OVX group showed a decrease in MMP-2 activity compared with the intact sedentary group (P<0.05). Our results suggest that the resistance training proposed in our work was efficient in reverting the deleterious effects of ovariectomy on bone tissue, and also produced modeling effects in intact rats. On the other hand, ovariectomy reduced the activity of MMP-2 and produced deleterious effects on bone tissue, mimicking menopause intrinsically.

Endoscopic ultrasound-guided biliodigestive drainage is a good alternative in patients with unresectable cancer.

A total of 11 prospective cases of endoscopic ultrasound (EUS)-guided cholangio-drainage (EUCD) in patients with end-stage biliopancreatic cancer and biliary tract obstruction are reported. Other available drainage methods (endoscopic retrograde cholangiopancreatography and/or percutaneous transhepatic biliary drainage) of the biliary tract were attempted without success prior to EUS. Technical and clinical success was achieved in 10/11 patients (91%) and in 9/10 patients (90%), respectively. Bilirubin decreased by more than 50% in 7/11 patients (64%). One patient had a complication that required re-intervention and another patient developed biloma. No mortality directly related to the procedure was documented. In conclusion, EUCD is a good alternative for patients with malignant obstruction of the biliary tract in whom other drainage methods have failed.

Risk of hyperamylasemia and acute pancreatitis after double-balloon enteroscopy: a prospective study.

BACKGROUND AND STUDY AIMS: There have been reports, mainly retrospective, of pancreatitis and hyperamylasemia after anterograde double-balloon enteroscopy (DBE). Our aim was to report the incidence of pancreatitis and hyperamylasemia after DBE and investigate possible risk factors associated with its occurrence. PATIENTS AND METHODS: In this single-center prospective cohort study, serum samples were taken for amylase and lipase before and 3 hours after anterograde DBE in consecutive patients. Multiple variables were recorded, including total procedure time, insertion depth, and number of passes. Patients were evaluated to 24 hours later for signs of pancreatitis. The main outcome measures were the occurrence of hyperamylasemia and pancreatitis. RESULTS: 92 patients were included in the analysis (58 women, 34 men; mean age 54 years, range 18-89). The mean total procedure time was 62 minutes (range 30-120). The mean post-procedure amylase and lipase levels were significantly higher in comparison with the baseline levels (165 U/L vs. 69 U/L and 144 U/L vs. 28 U/L respectively, P<.05); 36 patients (39%) showed hyperamylasemia after the procedure and three patients developed acute mild pancreatitis. Hyperamylasemia was associated more frequently with procedure duration greater than 60 minutes ( P<.001) and insertion depth greater than 25 cm ( P<.013). CONCLUSIONS: The incidence of hyperamylasemia after anterograde DBE is common and particularly associated with longer procedure time and insertion depth. The cumulative incidence of pancreatitis was 3%. We recommend the avoidance of both unnecessarily lengthy procedures and deep insertion distances in patients who undergo anterograde DBE.

Brainstem auditory evoked responses and bone conduction assessment in alpacas.

Auditory loss has been reported in camelids using brainstem auditory evoked responses (BAER). Differentiation between conductive versus sensorineural dysfunction has not been investigated. Therefore, the objective of the study was to investigate auditory function using BAER and bone conduction (BC). Twenty-four alpacas: 15 females, 9 intact males (2-16 years of age) were included in a randomized clinical trial. BAER and BC were recorded using two derivations (vertex to mastoid and vertex to cranial aspect of second cervical vertebra). All alpacas underwent complete physical examinations and were sedated with xylazine hydrochloride at 0.6 mg/kg IM. Peaks, when present, were identified and latencies, amplitudes, and amplitude ratios were determined. Eleven alpacas had normal responses and 13 had auditory loss based on BAER. The latter consisted of complete absence of peaks bilaterally (n = 3), absence of peaks unilaterally (n = 1), delayed latencies bilaterally (n = 4), and delayed latencies unilaterally (n = 5). Distinct peaks on BC supported conductive auditory loss in 6 alpacas, difficult to interpret due to stimulus artifact and additional undefined peaks in 4, and absent peaks in 3 alpacas. The cause of auditory loss was presumed to be due to otitis in 6, aging in 4 (10-16 years old), and congenital sensorineural (absent peaks on BAER and BC) in 3 alpacas with unpigmented fiber and irises. BAER and BC are useful and non-invasive to perform techniques for the investigation of auditory loss in alpacas, and further characterization as conductive or sensorineural.

Synthetic MRI is not yet ready for morphologic and functional assessment of patellar cartilage at 1.5Tesla.

PURPOSE: The purpose of this study was to compare morphologic assessment and relaxometry of patellar hyaline cartilage between conventional sequences (fast spin-echo [FSE] T2-weighted fat-saturated and T2-mapping) and synthetic T2 short-TI inversion recovery (STIR) and T2 maps at 1.5T magnetic resonance imaging (MRI). METHOD: The MRI examinations of the knee obtained at 1.5T in 49 consecutive patients were retrospectively studied. There were 21 men and 28 women with a mean age of 45±17.7 (SD) years (range: 18-88 years). Conventional and synthetic acquisitions were performed, including T2-weighted fat-saturated and T2-mapping sequences. Two radiologists independently compared patellar cartilage T2-relaxation time on conventional T2-mapping and synthetic T2-mapping images. A third radiologist evaluated the patellar cartilage morphology on conventional and synthetic T2-weighted images. The presence of artifacts was also assessed. Interobserver agreement for quantitative variables was assessed using intraclass correlation coefficient (ICC). RESULTS: In vitro, conventional and synthetic T2 maps yielded similar mean T2 values 58.5±2.3 (SD) ms and 58.8±2.6 (SD) ms, respectively (P=0.414) and 6% lower than the expected experimental values (P=0.038). Synthetic images allowed for a 15% reduction in examination time compared to conventional images. On conventional sequences, patellar chondropathy was identified in 35 patients (35/49; 71%) with a mean chondropathy grade of 4.8±4.8 (SD). On synthetic images, 28 patients (28/49; 57%) were diagnosed with patellar chondropathy, with a significant 14% difference (P=0.009) and lower chondropathy scores (3.7±4.9 [SD]) compared to conventional images. Motion artifacts were more frequently observed on synthetic images (18%) than on conventional ones (6%). The interobserver agreement was excellent for both conventional and synthetic T2 maps (ICC>0.83). Mean cartilage T2 values were significantly greater on synthetic images (36.2±3.8 [SD] ms; range: 29-46ms) relative to conventional T2 maps (31.8±4.1 [SD] ms; range: 26-49ms) (P<0.0001). CONCLUSION: Despite a decrease in examination duration, synthetic images convey lower diagnostic performance for chondropathy, greater prevalence of motion artifacts, and an overestimation of T2 values compared to conventional MRI sequences.

Molecular heterogeneity of XY sex reversal in horses.

Male-to-female 64,XY sex reversal is a frequently reported chromosome abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly understood. This is partially because only limited molecular information is available for the horse Y chromosome (ECAY). Here, we used the recently developed ECAY map and carried out the first comprehensive study of the Y chromosome in XY mares (n=18). The integrity of the ECAY in XY females was studied by FISH and PCR using markers evenly distributed along the euchromatic region. The results showed that the XY sex reversal condition in horses has two molecularly distinct forms: (i) a Y-linked form that is characterized by Y chromosome deletions and (ii) a non-Y-linked form where the Y chromosome of affected females is molecularly the same as in normal males. Further analysis of the Y-linked form (13 cases) showed that the condition is molecularly heterogeneous: the smallest deletions spanned about 21 kb, while the largest involved the entire euchromatic region. Regardless of the size, all deletions included the SRY gene. We show that the deletions were likely caused by inter-chromatid recombination events between repeated sequences in ECAY. Further, we hypothesize that the occurrence of SRY-negative XY females in some species (horse, human) but not in others (pig, dog) is because of differences in the organization of the Y chromosome. Finally, in contrast to the Y-linked SRY-negative form of equine XY sex reversal, the molecular causes of SRY-positive XY mares (5 cases) remain as yet undefined.

Magnetic resonance cholangiopancreatography identification of pancreaticobiliary maljunction in the colombian pediatric population. / Unión biliopancreática anómala por colangiorresonancia en población pediátrica colombiana.

OVERVIEW: Pancreaticobiliary maljunction (PBM) is a congenital malformation characterized by a long common pancreaticobiliary channel which causes sphincter of Oddi malfunction. In children, it is typically diagnosed using magnetic resonance cholangiopancreatography (MRCP). It is associated with congenital biliary dilatation, pancreatitis, and gallbladder and bile duct tumors at adulthood. Studies in the western population are rare. Given its morbidity rate, it should be searched for in the western pediatric population. The objective of this study was to look for and identify the presence of pancreaticobiliary maljunction through MRCP in pediatric patients with biliary or pancreatic disease, as well as to find out other associated factors. METHODS: MRCP was used to measure common channel length, pancreatic duct length, and bile duct diameter in 41 pediatric patients with biliary or pancreatic disease. RESULTS: The common channel could only be measured in 17.6% of cases, 50% of which were >8 mm long. All patients were female and had congenital biliary dilatation. No age-related differences were found in terms of bile duct length. CONCLUSIONS: PBM is present in the western pediatric population, but prevalence and morbidity are unknown. Larger studies are required to identify morbidity and mortality, as well as prevalence among patients.

OBJETIVO: La unión biliopancreática anómala (UBPA) es una malformación congénita caracterizada por un canal común pancreatobiliar largo que impide el adecuado funcionamiento del esfínter de Oddi. Su diagnóstico en niños se realiza comúnmente mediante colangiopancreatografía por resonancia magnética (CPRM). Se asocia a dilatación biliar congénita, pancreatitis y tumores de la vesícula y la vía biliar en la edad adulta. Los estudios en población occidental son escasos; debido a su morbilidad resulta de relevancia la búsqueda en población pediátrica occidental. Este estudio pretende buscar e identificar la presencia de unión biliopancreática anómala mediante CPRM de pacientes pediátricos con enfermedad de la vía biliar o pancreática, al igual que identificar otros factores asociados. METODOS: Se midió por CPRM la longitud del canal común, el conducto pancreático y el diámetro de la vía biliar de 41 pacientes pediátricos con patología biliar o pancreática. RESULTADOS: El canal común solo pudo ser medido en el 17,6% de los casos, de los cuales el 50% tuvo una longitud >8 mm, siendo todos ellos pacientes femeninos con dilatación biliar congénita; no se encontraron diferencias en la longitud de la vía biliar relacionado con la edad. CONCLUSIONES: La UBPA es una malformación que se encuentra presente en población pediátrica occidental con prevalencia y morbilidad desconocida; se requieren estudios a mayor escala para identificar morbimortalidad y prevalencia de pacientes con esta malformación.