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BACKGROUND: Metritis is a prevalent uterine disease that affects the welfare, fertility, and survival of dairy cows. The uterine microbiome from cows that develop metritis and those that remain healthy do not differ from calving until 2 days postpartum, after which there is a dysbiosis of the uterine microbiome characterized by a shift towards opportunistic pathogens such as Fusobacteriota and Bacteroidota. Whether these opportunistic pathogens proliferate and overtake the uterine commensals could be determined by the type of substrates present in the uterus. The objective of this study was to integrate uterine microbiome and metabolome data to advance the understanding of the uterine environment in dairy cows that develop metritis. Holstein cows (n = 104) had uterine fluid collected at calving and at the day of metritis diagnosis. Cows with metritis (n = 52) were paired with cows without metritis (n = 52) based on days after calving. First, the uterine microbiome and metabolome were evaluated individually, and then integrated using network analyses. RESULTS: The uterine microbiome did not differ at calving but differed on the day of metritis diagnosis between cows with and without metritis. The uterine metabolome differed both at calving and on the day of metritis diagnosis between cows that did and did not develop metritis. Omics integration was performed between 6 significant bacteria genera and 153 significant metabolites on the day of metritis diagnosis. Integration was not performed at calving because there were no significant differences in the uterine microbiome. A total of 3 bacteria genera (i.e. Fusobacterium, Porphyromonas, and Bacteroides) were strongly correlated with 49 metabolites on the day of metritis diagnosis. Seven of the significant metabolites at calving were among the 49 metabolites strongly correlated with opportunistic pathogenic bacteria on the day of metritis diagnosis. The main metabolites have been associated with attenuation of biofilm formation by commensal bacteria, opportunistic pathogenic bacteria overgrowth, tissue damage and inflammation, immune evasion, and immune dysregulation. CONCLUSIONS: The data integration presented herein helps advance the understanding of the uterine environment in dairy cows with metritis. The identified metabolites may provide a competitive advantage to the main uterine pathogens Fusobacterium, Porphyromonas and Bacteroides, and may be promising targets for future interventions aiming to reduce opportunistic pathogenic bacteria growth in the uterus.
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Systemic mastocytosis (SM) is a myeloproliferative neoplasm displaying abnormal mast cell proliferation. It is subdivided into different forms, including aggressive systemic mastocytosis (ASM) and systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). Oncogenic genetic alterations include point mutations, mainly the KIT D816V, conferring poor prognosis and therapy resistance, and fusion genes, with those involving PDGFRA/PDGFRB as the most recurrent events. We here describe an ASM case negative to the KIT D816V and JAK2 V617F alterations but showing a RUNX1 frameshift heterozygous mutation and the co-occurrence of three fusion transcripts. The first one, PRKG2::PDGFRB, was generated by a balanced t(4;5)(q24;q32) translocation as the sole abnormality. Other two novel chimeras, KAT6A::NCOA2 and RXRA::NOTCH1, originated from cryptic intra-chromosomal abnormalities. The patient rapidly evolved towards SM-AHN, characterized by the persistence of the PRKG2::PDGFRB chimera, due to the presence of an extra copy of the der(5)t(4;5)(q24;q34) chromosome and an increase in the RUNX1 mutation allelic frequency. The results indicated that the transcriptional landscape and the mutational profile of SM deserve attention to predict the evolution and prognosis of this complex disease, whose classification criteria are still a matter of debate.
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Subunidade alfa 2 de Fator de Ligação ao Core , Mutação da Fase de Leitura , Mastocitose Sistêmica , Proteínas de Fusão Oncogênica , Humanos , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Mastocitose Sistêmica/genética , Proteínas de Fusão Oncogênica/genética , Receptor Notch1/genética , Coativador 2 de Receptor Nuclear/genética , Masculino , Heterozigoto , Feminino , Pessoa de Meia-Idade , Histona AcetiltransferasesRESUMO
The objectives of this retrospective observational study were to investigate the association between BCS at 21 d before calving with prepartum and postpartum DMI, energy balance (EB), and milk yield. Data from 427 multigravid cows from 11 different experiments conducted at the University of Florida (Gainesville, FL) were used. Cows were classified according to their BCS at 21 d before calving as fat (BCS ≥ 4.00; n = 83), moderate (BCS = 3.25-3.75; n = 287), and thin (BCS ≤ 3.00; n = 57). Daily DMI from -21 to -1 and from +1 to +28 DIM was individually recorded. Energy balance was calculated as the difference between net energy for lactation consumed and required. Dry matter intake in fat cows was lower than that in moderate and thin cows both prepartum (fat = 9.97 ± 0.21, moderate = 11.15 ± 0.14, and thin = 11.92 ± 0.22 kg/d) and postpartum (fat = 14.35 ± 0.49, moderate = 15.47 ± 0.38, and thin = 16.09 ± 0.47 kg/d). Dry matter intake was also lower for moderate cows compared with thin cows prepartum, but not postpartum. Energy balance in fat cows was lower than in moderate and thin cows both prepartum (fat = -4.16 ± 0.61, moderate = -1.20 ± 0.56, and thin = 0.88 ± 0.62 Mcal/d) and postpartum (fat = -12.77 ± 0.50, moderate = -10.13 ± 0.29, and thin = -6.14 ± 0.51 Mcal/d). Energy balance was also lower for moderate cows compared with thin cows both prepartum and postpartum. There was a quadratic association between BCS at 21 d before calving and milk yield. Increasing BCS from 2.5 to 3.5 was associated with an increase in daily milk yield of 6.0 kg and 28 d cumulative milk of 147 kg. Increasing BCS from 3.5 to 4.5 was associated with a decrease in daily milk yield of 4.4 kg and 28 d cumulative milk of 116 kg. In summary, a moderate BCS at 21 d before calving was associated with intermediate DMI and EB pre- and postpartum but greater milk yield compared with thinner and fatter cows. Our findings indicate that a moderate BCS is ideal for ensuring a successful lactation.
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Metabolismo Energético , Lactação , Leite , Período Pós-Parto , Animais , Bovinos , Feminino , Leite/metabolismo , Gravidez , Estudos Retrospectivos , Dieta/veterináriaRESUMO
The objective of this study was to identify metabolites associated with metritis and use them for identification of cellular mechanisms affected during transition into lactation. Holstein cows (n = 104) had blood collected in the prepartum period (d -14 ± 6 relative to calving), at calving (d 0), and at the day of metritis diagnosis (d 7 ± 2 after calving). Cows with reddish or brownish, watery, and fetid discharge were diagnosed with metritis (n = 52). Cows with metritis were paired with herdmates without metritis (n = 52) based on days in milk. The metabolome of plasma samples was evaluated using untargeted gas chromatography time-of-flight mass spectrometry. Univariate analyses included t-tests and fold change analyses. Metabolites with false discovery rate adjusted P ≤ 0.10 on t-tests were used for partial least squares discriminant analysis coupled with permutational analysis using 2,000 permutations. Metabolites with false discovery rate adjusted P ≤ 0.10 on t-tests were also used for enriched pathway analyses and identification of cellular processes. Cows that developed metritis had affected cellular processes associated with lower amino acid metabolism in the prepartum period, greater lipolysis, cell death, and oxidative stress at calving and at metritis diagnosis, and greater leukocyte activation at calving, but lower immune cell activation at metritis diagnosis. In summary, cows that developed metritis had plasma metabolomic changes associated with greater lipolysis, oxidative stress, and a dysregulated immune response which may predispose cows to metritis development.
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The objective was to unravel the peripartum immune and metabolic changes associated with metritis in Holstein cows. Holstein cows (n = 128) had blood collected at -14, 0, 3, and 7 d relative to parturition (DRP). Flow cytometry was used to evaluate blood leukocyte counts, proportions, and activation. Total cells, live cells, single cells, monocytes (CD172α+/CD14+), polymorphonuclears (CD172α+/CD14-/SSChigh), B-cells (CD21+/MHCII+), CD4+ T-cells (CD4+), CD8+ T-cells (CD8+), and γδ T-cells (γδTCR+) were evaluated. Both CD62L and CD11b were used as markers of cell activation. Major histocompatibility complex class II was used as a marker of antigen presentation in monocytes. A Milliplex Bovine Cytokine/Chemokine 08-plex kit was used to evaluate plasma concentrations of IFN-γ, IL-1α, IL-1ß, IL-4, IL-6, IL-8, IL-10, and tumor necrosis factor-α. The body weight (BW) change prepartum was calculated as the difference between calving BW and prepartum BW divided by the number of days between measurements. Plasma fatty acids (FA) were measured at -14 and 0 DRP using untargeted gas chromatography with time-of-flight mass spectrometry. Data were analyzed by ANOVA for repeated measures. Cows that developed metritis (n = 57) had greater prepartum BW, prepartum BW loss, and greater FA concentrations at calving. Plasma FA at calving was positively correlated with IL-1ß. Cows that developed metritis had persistent systemic inflammation, which was demonstrated by greater B-cell activation, greater pro-inflammatory cytokine concentrations, and greater cell damage pre- and postpartum. Postpartum, we observed greater polymorphonuclear cell activation and extravasation but lesser monocytes and CD4+ T-cells activation and extravasation, which suggests postpartum immune tolerance. Greater prepartum adiposity in cows that developed metritis may lead to systemic inflammation pre- and postpartum and immune tolerance postpartum, which may lead to failure to prevent bacterial infection, and development of puerperal metritis.
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Doenças dos Bovinos , Doença Inflamatória Pélvica , Feminino , Bovinos , Animais , Linfócitos T CD8-Positivos , Cromatografia Gasosa-Espectrometria de Massas/veterinária , Período Pós-Parto , Citocinas , Inflamação/veterinária , Doença Inflamatória Pélvica/veterinária , LactaçãoRESUMO
AIM: To achieve international expert consensus and give recommendations on best practices in hair transplantation surgery, focusing on pre- and post-transplantation care. METHODS: A modified Delphi method was used to reach consensus. An international scientific committee developed an 81-statement questionnaire. A panel of 38 experts in hair transplantation from 17 countries across 4 continents assessed the questionnaire. RESULTS: Two consensus rounds were carried out, with 59 out of 81 statements (73%) reaching consensus. Expert recommendations emphasize the correct selection of candidates for hair transplantation and the need for patients to have received adequate medical treatment for alopecia before transplant. Comorbidities should be assessed and considered while planning surgery, and an individualized plan for perioperative care should be drawn up before transplant. Certain medications associated with increased risk of bleeding should be withdrawn before surgery. Specific recommendations for post-transplantation care are given. After transplantation, patients should gradually resume their normal haircare regimen. Close follow-up should be carried out during the first year after transplant. CONCLUSIONS: This study presents numerous consensus-based recommendations on general aspects of hair transplantation, including candidate selection, medical therapy prior to transplantation, anesthesia, and resuming haircare after transplantation.
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Alopecia , Transplante de Pele , Humanos , Alopecia/etiologia , Alopecia/cirurgia , Consenso , CabeloRESUMO
The microwave detection capability of GaN-based asymmetric planar nanodiodes (so-called Self-Switching Diode, SSD, due to its non-linearity) has been characterized in a wide temperature range, from 70 K up to 300 K. At low temperature, microwave measurements reveal an enhancement of the responsivity at frequencies below 1 GHz, which, together with a pronounced hysteresis in the DC curves, indicate a significant influence of the surface states. This leads to a significant variability and non-repeatability which needs to be reduced since it degrades the accuracy of the detection. For this sake, the RF characterization was repeated after applying a positive/negative voltage able to fill/empty the surface states in order to have a well-established preconditioned state. As a consequence of the positive pre-soak bias, a significant enhancement of the measured responsivity, with a × 10 increase at low temperature. The RF detection measurements after such preconditioning contains a time dependence induced by the slow discharge mechanism of the traps, so that the improved responsivity remains even after 100s of seconds. On the other hand, a negative voltage pre-soak benefits the discharge process, thus suppressing the low frequency dispersion and the important variability of the detection without the pre-conditioning step. We also show that the relation between the voltage and current responsivities in each case allows to explain the impact of the surface charges in terms of the device impedance.
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RESUMEN El Nevo de Ota, es una melanocitosis dérmica que se desarrolla por un defecto embrionario en la migración de los melanocitos desde la cresta neural a la piel y mucosas. Presentamos una paciente de 32 años, con Nevo de Ota bilateral de presentación infrecuente.
ABSTRACT Nevus of Ota is a dermal melanocytosis that develops due to an embryonic defect in the migration of melanocytes from the neural crest to the skin and mucous membranes. We report a 32-year-old female patient with a bilateral nevus of Ota with a rare manifestation due to its unusual distribution.
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BACKGROUND: Haemobilia is a rare cause of gastrointestinal bleeding. It can be related to iatrogenic injuries, inflammatory diseases, and, more recently, postoperative, or post-procedure complications. Porto-biliary fistula is an uncommon case of haemobilia and has been related to iatrogenic injury or chronic inflammatory processes. To date, less than 30 cases of Porto-biliary fistula have been reported. CASE PRESENTATION: We present a 53 years-old woman with a history of biliary obstruction due to a choledochal cyst that required hepaticojejunostomy with evidence of anastomotic stricture. A percutaneous transhepatic biliary drainage (PTBD) was performed, with 3 failed attempts of percutaneous dilatation. A new hepaticojejunostomy was completed, however, 45 days later the patient presented to the emergency room with haemobilia and secondary hemodynamic instability. An emergency damage control laparotomy was performed, achieving bleeding control. In the second procedure, there is evidence of an ulcerative injury of the biliary tract secondary to a Porto-biliary fistula. CONCLUSION: Porto-biliary fistula is an entity that cannot be ruled out in cases of haemobilia, especially in cases with a history of bile duct surgical or percutaneous procedures. The prognosis is usually good if multidisciplinary management is performed, and the source of the bleeding is identified early.
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BACKGROUND: Hemosuccus pancreaticus is a rare cause of upper gastrointestinal bleeding (1/1500) and represents the loss of blood through the main pancreatic duct and its exteriorization through the major duodenal papilla. It can lead to massive bleeding, which is potentially life-threatening. This condition most commonly follows pseudoaneurysm formation due to acute or chronic pancreatitis. As a result of its infrequency, it is difficult to diagnose, and the mortality rate remains high. To our knowledge, this is the first case report on the Latin-American population. CASE PRESENTATION: A 70-year-old male patient presented with diffuse severe abdominal pain associated with melaena. Angiotomography was performed, ruling out mesenteric ischemia, with evidence of pancreatic head tumor with liver metastases. Sandblom's triad was present and the diagnosis of hemosuccus pancreaticus was confirmed. Multiple arteriograms were performed, with pseudoaneurysm of gastroduodenal artery findings. Therefore, endovascular coil embolization was performed in two opportunities to control the bleeding. CONCLUSION: Upper gastrointestinal bleeding is a clinical challenge for the surgeon and emergency medicine. It's a complex entity with high mortality that should be suspected in patients with acute or chronic pancreatitis and periampullary tumors with non-established sources of bleeding. Clinically manifested by Sandblom's triad. Its diagnosis gold standard is arteriography plus embolization which is also therapeutic. Surgery is related to higher mortality and reserved for specific situations.
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OBJETIVO establecer la prevalencia de Pontículus Pósticus (PP) en pacientes atendidos en el Servicio de Imagenología de la Universidad Finis Terrae en el periodo 2015-2020. METODOLOGÍA estudio de tipo transversal descriptivo, donde se analizaron 334 telerradiografías laterales (TL) obtenidas del Servicio de Imagenología de la Universidad Finis Terrae entre los años 2015 y 2019 adquiridas mediante el equipo marca SIRONA modelo Orthophos XG, seleccionándolas según criterios de inclusión y exclusión. Se analizó la primera vértebra cervical buscando la presencia de PP consignando: sexo, edad y tipo de osificación según clasificación de Cederberg y Stubbs, asignándoles valores numéricos para posteriormente realizar el análisis estadístico de tipo descriptivo uni y bivariado. RESULTADOS se seleccionaron 320 TL. La prevalencia de PP fue del 31,9% de las TL incluidas, de los cuales el 68,1% correspondió al tipo 1 de la clasificación de Cederberg y Stubbs, el 14,1% al tipo 2, 10,3% al tipo 4 y el 7,5% al tipo 3. La edad media en pacientes con PP presente correspondió a 30,63 años +/ 15,888 D.E con un mínimo de 12 años y un máximo de 78. En cuanto a la presencia de PP y la variable sexo, el 53,9% correspondió al sexo femenino y el 46,1% al sexo masculino, en donde no se encontró una predilección estadísticamente significativa (p = 0,08). CONCLUSIONES el PP es una variante anatómica de prevalencia variada, siendo levemente mayor en esta población chilena en comparación con otros países. Además, su evidencia es escasa y no existe un consenso sobre su prevalencia y diversas variables como el género y la edad, difiriendo en varios estudios. Es importante conocer e investigar más sobre la epidemiología de esta anomalía y su relación con distintos desórdenes neurológicos
OBJETIVE to establish the prevalence of Ponticulus Posticus (PP) in patients attended in Radiology Service of Finis Terrae University between the years 2015 and 2020. METHODOLOGY descriptive cross-sectional study, 334 lateral cephalograms were analyzed obtained from the Radiology Service of Finis Terrae University between the years 2015 and 2020 acquired from SIRONA system model Orthophos XG, selecting them following the inclusion and exclusion criteria. The first cervical vertebrae were analyzed searching for the presence of PP, consigning: Type of ossification by Cederberg and Stubbs classification, Age and Sex, assigning them numerical values to subsequently perform the descriptive statistical analysis uni and bivariate. RESULTS the prevalence of PP found was 31,9% of the 320 included TL, of which 68,1% corresponded to Type 0 of Cederberg and Stubbs classification, 14,1% to Type 1, 10,3% to Type 3 and the 7,5% al Type 2. The average age of present PP patient's was 30,63 years + 15,888 S.D with a minimum of 12 years and a maximum de 78. As for the presence of PP and sex variable, 53,9% corresponded to female sex and 46,1% to males, where no statistically significant predilection was found (p = 0,08). CONCLUSIONS PP is an anatomical variant with varied prevalence worldwide, being slightly higher in Chile, compared to other countries. In addition, their evidence is scarce and there is no consensus on its prevalence and various variables such as gender and age, differing in several studies. It is important to know and research more about the epidemiology of this anomaly and its relationship with different neurological disorder
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Humanos , Atlas Cervical/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Atlas Cervical/anormalidades , Chile/epidemiologia , Epidemiologia Descritiva , Prevalência , Distribuição por Sexo , Distribuição por IdadeRESUMO
RESUMEN La dermatosis pustulosa subcórnea o enfermedad de Sneddon Wilkinson, es una enfermedad poco frecuente, caracterizada por lesiones pustulosas, recurrentes que suelen coalescer. Esta afección también se relaciona con enfermedades neoplásicas o inmunológicas. El propósito de este estudio es describir un caso clínico de ladermatosis referida en una paciente de 54 años de edad inicialmente tratada con dapsona, aunque,si bien, durante dos meses hubo mejoría, posteriormente se observa desarrollo de nuevas lesiones y alteración de las transaminasas. Por este motivo se procede a cambiar de tratamiento, por trimetoprima /sulfametoxazol.
Abstract Subcorneal pustular dermatosis or Sneddon Wilkinson's disease is a rare disease characterized by recurrent pustular lesions that often coalesce. This condition is also associated with neoplastic or immunologic diseases. The purpose of this study is to describe a clinical case of the referred dermatosis in a 54-year-old female patient initially treated with dapsone, although there was improvement for two months, subsequently new lesions developed and transaminase alteration was observed, for this reason the treatment was changed to trimethoprim/sulfamethoxazole.
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La enuresis es un problema que afecta a un porcentaje importante de la población pediátrica desde los 5 a los 16 años, e incluso a adultos jóvenes, teniendo causas multifactoriales tanto desde el punto de vista de su origen, como de su perpetuidad en el tiempo. La pandemia COVID-19 motiva como herramienta de control al aislamiento social, una cuarentena que afecta los hábitos generales de los niños y niñas, produciendo un descontrol del ritmo circadiano, a partir de la desregulación horaria y la ansiedad secundaria. Esto atenta contra la evolución favorable de la enuresis y, a medida que la cuarentena se prolonga, es peor. En Argentina la cuarentena superó los 100 días, sin poder todavía mensurar el impacto desde el punto de vista de la enuresis. Proponemos herramientas para intentar disminuir los efectos del aislamiento y la cuarentena con el fin de no profundizar el problema o evitar las recaídas
Enuresis is a problem that affects a significant percentage of the pediatric population from 5 to 16 years of age, and even young adults, having multifactorial causes both from the point of view of its origin and its perpetuity over time. COVID-19 Pandemic motivates social isolation as a control tool and, in certain countries, a quarantine that affects boys and girls general habits, producing circadian rhythm lack of control, based on time dysregulation and anxiety in high school. This undoubtedly threatens enuresis favorable evolution and, as quarantine continues, it is worse. In Argentina, quarantine exceeded 100 days, especially in the geographic region with highest population density, without being able to measure the impact in terms of enuresis. That is why we propose tools to try to reduce the isolation effects and quarantine in order not to deepen the problem or avoid relapses
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Quarentena , Enurese , COVID-19 , Argentina , CriançaRESUMO
Objectives were to evaluate the effect of 2 analogs of PGF2α (cloprostenol vs. dinoprost) and 2 doses (1 injection vs. 2 injections) on luteolysis, follicle diameter, hormonal concentrations, and time to ovulation in dairy heifers. Holstein heifers were fitted with automated estrus detection devices and had their estrous cycle synchronized using PGF2α and an intravaginal insert containing progesterone. Heifers detected in estrus were blocked by weight and randomly assigned to 1 of 4 treatments in a 2 × 2 factorial arrangement: cloprostenol on d 7 after estrus (CLOx1; n = 45), cloprostenol on d 7 and 8 after estrus (CLOx2; n = 41), dinoprost on d 7 after estrus (DINx1; n = 43), or dinoprost on d 7 and 8 after estrus (DINx2; n = 44). Treatment with the first injection of PGF2α was defined as experiment d 0. Area and blood flow of corpus luteum (CL) and diameter of follicles >5 mm were recorded every 12 h from d 0 to estrus and every 6 h thereafter until ovulation. Blood was sampled every 6 h from d 0 until ovulation. Heifers treated with cloprostenol had shorter interval to luteolysis (± SEM; CLOx1 = 23.5 ± 2.2, CLOx2 = 22.9 ± 2.2, DINx1 = 32.6 ± 2.7, DINx2 = 26.4 ± 2.1 h); however, time to ovulation was not affected by treatment. A smaller proportion of heifers treated with a single injection of PGF2α underwent luteolysis compared with heifers treated with 2 injections (CLOx1 = 84.6 ± 6.2, CLOx2 = 100.0 ± 0.0, DINx1 = 59.7 ± 9.8, DINx2 = 96.3 ± 2.7%). Proportion of heifers that ovulated was smaller for DINx1 compared with other treatments (CLOx1 = 88.8 ± 5.1, CLOx2 = 100.0 ± 0.0, DINx1 = 55.2 ± 9.7, DINx2 = 94.4 ± 3.4%). Ovulatory follicle diameter was larger for DINx1 (18.2 ± 2.7 mm) compared with DINx2 (17.4 ± 2.7 mm), whereas dose did not affect the diameter of the ovulatory follicle in heifers treated with cloprostenol (CLOx1 = 17.6 ± 2.7 vs. CLOx2 = 17.8 ± 2.8 mm). Among heifers that underwent luteolysis, progesterone concentrations from 18 to 36 h after treatment were lesser in heifers treated with cloprostenol compared with those treated with dinoprost. Type of PGF2α did not affect progesterone concentrations past 36 h from treatment; however, heifers treated with 2 PGF2α injections had lesser progesterone concentrations and CL blood flow from 36 to 72 h after treatment compared with heifers that received a single PGF2α injection.
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Dinoprosta , Luteólise , Animais , Bovinos , Cloprostenol/farmacologia , Sincronização do Estro , Feminino , Inseminação Artificial/veterinária , Ovulação , ProgesteronaRESUMO
Introducción: el motivo de consulta en Pediatría puede o no estar relacionado con patología subyacente importante, la exploración física exhaustiva en busca de signos de alarma es fundamental. Caso clínico: presentamos el caso de un lactante de 3 meses en el que durante una visita a nuestro servicio de urgencias se detectaron hematomas. Con la sospecha inicial de un posible maltrato, se realizaron varios estudios y el diagnóstico final fue el de tromboastenia de Glanzmann. Discusión: la tromboastenia de Glanzmann es un trastorno hereditario de la función plaquetaria. Se trata de una enfermedad muy poco frecuente de herencia autosómica recesiva. El hemograma y las pruebas de coagulación básicas son normales y el diagnóstico se realiza mediante análisis de pruebas de función plaquetaria y agregometría por transmisión de luz. Conclusiones: la presencia de hematomas en un lactante de corta edad constituye siempre un motivo de investigación. Aunque por su incidencia el maltrato infantil constituye una de las principales causas, no debemos olvidar que se trata de un diagnóstico de exclusión, por lo que deberán descartarse otras patologías en función de los signos y síntomas que presente el paciente (AU)
Introduction: the presenting complaint in a paediatric visit may or not be related to an important underlying disease, so performing an exhaustive physical examination in search of warning signs is essential.Clinical case: we present the case of a 3-month-old infant in whom little bruises in thorax were detected during a visit to our emergency room. Several tests were performed to assess the initial suspicion of physical child abuse, after which the final diagnosis was Glanzmann thrombasthenia.Discussion: Glanzmann thrombasthenia is an inherited platelet function disorder. It is a rare disorder with autosomal recessive inheritance. Complete blood count and basic coagulation tests are normal, and the diagnosis is performed by platelet function testing and light transmission aggregometry.Conclusions: the presence of bruises in infants is always a reason for investigation. Although, given its frequency, child abuse is one of the leading causes, we must not forget that it is a diagnosis of exclusion. Therefore, other pathologies should be ruled out based on the presenting signs and symptoms. (AU)
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Humanos , Masculino , Lactente , Hematoma/diagnóstico , Trombastenia/diagnóstico , Diagnóstico DiferencialRESUMO
La reagudización o crisis asmática es uno de los motivos de consulta más frecuentes en las consultas de Atención Primaria y en los servicios de urgencias pediátricas. Se trata de una patología con un algoritmo de actuación y de tratamiento según la gravedad bien establecido, con fármacos con un buen perfil de seguridad para la edad pediátrica. Se presenta un caso con mala respuesta inicial que ilustra un efecto paradójico del salbutamol (AU)
Asthma exacerbations are among the most frequent reasons for paediatric primary care and emergency care visits. Asthma is a disease with a well-established management and treatment algorithm based on severity, and drugs with a good safety profile for the paediatric population are available for its treatment. We present a case with a poor inital response illustrating a paradoxical reaction to salbutamol. (AU)