Genetic parameters for reproductive traits in the Italian Mediterranean buffalo using milk yield as a correlated trait.

Until now, the genetic evaluation of the Italian Mediterranean Buffalo has been mainly focused on production traits. However, female fertility affects the efficiency of the dairy industry as it is essential to maintain the profitability of dairy farms. Indeed, the estimation of its genetic component is crucial for its improvement. In this study, 3 measures of buffalo's fertility were analyzed: the age at first calving (AFC), the interval between first and second calving (CIV1), and the interval between second and successive calvings (CIV2_12). Milk yield at 270 d (MY270) was used as a correlated trait. First, genetic parameters were estimated using 7,915 buffalo cows with first calving from 1991 to 2018, then breeding values were calculated from 236,087 buffalo cows. Genetic parameters were estimated by Bayesian inference fitting a multiple-trait animal model using the GIBBS1F90 program, and BLUPF90 was used for estimation of breeding value. The heritability and repeatability estimates of fertility traits were low. The genetic correlations among fertility traits ranged from 0.10 (AFC-CIV1) to 0.92 (CIV1-CIV2_12). Genetic correlation between MY270 and fertility traits was unfavorable, ranging from 0.23 to 0.48. The results from this study can be used as a basis for the future genetic improvement of fertility traits in the Italian Mediterranean Buffaloes.

Changes in vineyard soil parameters after repeated application of organic-inorganic amendments based on spent mushroom substrate.

The changes of physicochemical and biochemical parameters of a silty loam (S1) and sandy loam (S2) vineyard soils added with spent mushroom substrate (SMS) or SMS composted with ophite (OF) as rock dust (SMS + OF) were studied. Two doses of SMS or SMS + OF (25 and 100 Mg ha-1) were applied for two consecutive years (2020-2021) and changes of soil physicochemical parameters, and dehydrogenase activity (DHA), respiration (RES), microbial biomass (BIO), and the phospholipid fatty acids (PLFAs) profile were assayed on a temporal basis. The results showed an increase in soil organic carbon (OC) content, total and mineralised N, P, and K, especially when the highest SMS dose was applied to soils. Repeated application caused OC content over time up to 2.3 times higher than initial content in the silty loam soil. This increase was not observed in sandy soil, possibly due to a higher bioavailability of OC, as indicated by the evolution of extractable humic acid/fulvic acid pools. In both soils, all biochemical parameters increased after amendment, being favoured both by the OC and by the presence of OF. Significant positive correlations were found between DHA, RES and BIO, and OC content especially in the first part and then levelled off after the second dose application. Total bacterial or fungal PLFAs patterns reflected the variation of BIO by SMS application. The higher growth of fungi vs. bacterial community in amended soils was recorded after the first SMS application, although the opposite effect occurred after the second application, with similar results in both soils. The findings indicate that the application of SMS or SMS + OF in vineyard soils could be an appropriate agronomic management practice for maintaining soil sustainability, although doses and application times of these amendments should first be evaluated depending on soil texture.

Theoretical Study at the Molecular Mechanics Level of the Interaction of Tetracycline and Chloramphenicol with the Antibiotic Receptors Present in Enterococcus faecalis (Q839F7) and Streptococcus mutans (Q8DS20).

When dental infections occur, various types of antibiotics are used to combat them. The most common antibiotics to be used are tetracycline and chloramphenicol; likewise, the most common bacteria in dental infections are Enterococcus faecalis and Streptococcus mutans. In the present work, we have studied by molecular mechanics methods the interactions of the ribosomal proteins L16 present in Enterococcus faecalis and Streptococcus mutans, identified with UNIPROT code Q839F7 and Q8DS20, respectively. We evaluated the interactions between Q839F7 and Q8DS20 with tetracycline and chloramphenicol antibiotics. We found that the interaction between Enterococcus faecalis (Q839F7) is much more favorable when treated with chloramphenicol. In contrast, the interaction with tetracycline is favored in the case of Q8DS20 present in Streptococcus mutans. This suggests that the treatment should be differentiated depending on the infection level and the presence of some of these bacteria.

Alcohol availability during withdrawal gates the impact of alcohol vapor exposure on responses to alcohol cues.

RATIONALE: Chronic intermittent ethanol (CIE) vapor inhalation is a widely used model of alcohol dependence, but the impact of CIE on cue-elicited alcohol seeking is poorly understood. OBJECTIVE: Here, we assessed the effects of CIE on alcohol-seeking elicited by cues paired with alcohol before or after CIE vapor inhalation. METHODS: In experiment 1, male and female Long-Evans rats were trained in a discriminative stimulus (DS) task, in which one auditory cue (the DS) predicts the availability of 15% ethanol and a control cue (the NS) predicts no ethanol. Rats then underwent CIE or served as controls. Subsets of each group received access to oral ethanol twice a week during acute withdrawal. After CIE, rats were presented with the DS and NS cues under extinction and retraining conditions to determine whether they would alter their responses to these cues. In experiment 2, rats underwent CIE prior to training in the DS task. RESULTS: CIE enhanced behavioral responses to cues previously paired with alcohol, but only in rats that received access to alcohol during acute withdrawal. When CIE occurred before task training, male rats were slower to develop cue responses and less likely to enter the alcohol port, even though they had received alcohol during acute withdrawal. CONCLUSIONS: These results suggest that CIE vapor inhalation alone does not potentiate the motivational value of alcohol cues but that an increase in cue responses requires alcohol experience during acute withdrawal. Furthermore, under some conditions, CIE may disrupt responses to alcohol-paired cues.

Field measurement and modelling of chlorotoluron and flufenacet persistence in unamended and amended soils.

The dissipation and persistence of two cereals herbicides, chlorotoluron and flufenacet, were studied in a field experiment including three replicated plots of unamended soil (S), soil amended with spent mushroom substrate (S + SMS), and soil amended with green compost (S + GC), during the winter wheat cultivation campaign. The SMS and GC organic residues were applied to the soil at rates of 140 or 85 t residue ha-1, and herbicides were sprayed as Erturon® and Herold® formulations for chlorotoluron and flufenacet, respectively. Concentrations of both herbicides and of their metabolites were regularly measured in the three soil treatments (0-10 cm) from 0 to 339 days. The dissipation kinetics fitted well the single first order (SFO) model, except that of chlorotoluron that fitted the first order multi-compartment (FOMC) model better in the unamended soil. The dissipation rates of herbicides were lower in amended than in unamended soils. The results also showed that the DT50 of chlorotoluron (66.2-88.0 days) and flufenacet (117-145 days) under field conditions were higher than those previously obtained at laboratory scale highlighting the importance of the changing environmental conditions on the dissipation process. Similarly, the formation of chlorotoluron and flufenacet metabolites under field conditions was different from that previously observed in the laboratory. The performance of the MACRO pesticide fate model, parameterized with laboratory data, was then tested against field data. There was a very good agreement between measured and simulated chlorotoluron residue levels in the three soil treatments, while the ability of the model to reproduce the dissipation of flufenacet was good in the unamended soil and very good in S + SMS and S + GC soils. MACRO might be used to estimate the remaining amounts of herbicides in amended soils from degradation data previously obtained at laboratory scale. This would help to manage herbicide doses in different environmental conditions to preserve the sustainability of agricultural systems.

Motility and recovery of alpaca (Vicugna pacos) spermatozoa after centrifugation in a density gradient solution.

BACKGROUND: One of the factors limiting successful processing of alpaca (Vicugna pacos) semen is the viscosity of seminal plasma. The viscous nature of the collected ejaculate has hindered sperm cryopreservation as well as artificial insemination (AI) under field conditions. AIMS: The objective of this investigation was to evaluate recovery, motility, and plasma membrane integrity of alpaca spermatozoa after centrifugation in one of two different solutions at one of three different combinations of speed and time. METHODS: A total of 24 ejaculates was recovered from seven reproductively sound Huacaya males using a modified artificial vagina (AV) after training the animals for semen collection. A 2 × 3 factorial treatment arrangement was utilized for this study. Ejaculates were divided into fractions for centrifugation in one of two solutions (Tris extender or PureSperm®80 density gradient solution) at one of three combinations of speed and time (492 × g for 15 min, 1968 × g for 10 min, or 4448 × g for 7 min). The experiment was replicated eight times. RESULTS: Analysis revealed that centrifugation at 4448 × g for 7 min in PureSperm®80 provided a high recovery rate of spermatozoa with the highest sperm motility and functional integrity of plasma membrane post-centrifugation. Conclusion: Results suggest that adoption of this procedure (centrifugation at 4448 × g for 7 min in PureSperm®80) in the initial processing of alpaca ejaculates may enhance subsequent ability to use semen for AI and other assisted reproductive biotechnologies in this species.

Previous degradation study of two herbicides to simulate their fate in a sandy loam soil: Effect of the temperature and the organic amendments.

A laboratory study was designed to assess the following: i) the degradation kinetics of chlorotoluron and flufenacet at two different temperatures, 6 °C and 16 °C, in an unamended agricultural soil and one amended with spent mushroom substrate (SMS) and green compost (GC), and ii) the formation of the main metabolites of both herbicides with potential risk for water pollution over degradation time. The aim was to determine the dependence of these herbicide degradations on temperature (Q10 factor) using kinetic parameters, which is essential information for the later simulation of herbicide environmental fate with FOCUS models. SMS and GC were applied in situ to the natural soil as organic amendments at rates of 140 or 85 t residue ha-1, respectively. Unamended and amended soils were taken from the 0-10 cm topsoil of experimental plots (three replicates/treatment) located on an agricultural farm. Samples of soil + herbicides were incubated at 6 °C or 16 °C under laboratory conditions. The degradation curves of chlorotoluron and flufenacet were fitted to single first-order and first-order multicompartment kinetic models, respectively. The flufenacet degradation, the more hydrophobic herbicide, was slower than that of chlorotoluron in all the treatments. The application of the organic amendments to soil increased the half-lives (DT50) for both herbicides incubated at 6 °C (1.3-1.9 times) and 16 °C (1.4-1.9 times) due to their higher sorption and lower bioavailability for degradation in amended soils. The herbicides recorded a faster degradation at 16 °C than at 6 °C (Q10 = 1.9-2.8) due to the increased microbial biomass and/or activity with temperature. The metabolites desmethyl chlorotoluron, flufenacet ESA and flufenacet OA were detected in all the soil treatments at both incubation temperatures. The determination of Q10 factors in amended soils is very valuable for generating accurate input data for pesticide fate models such as FOCUS in order to improve the evaluation of the leaching of herbicides and their transformation products, which is a relevant goal to maintain the sustainability of agricultural systems.

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. METHODS: We investigated a Spanish family with variable phenotype of autosomal dominant Alport syndrome using clinical, histological, and genetic analysis. RESULTS: Mutational analysis of COL4A3 and COL4A4 genes showed a novel heterozygous mutation (c. 998G > A; p.G333E) in exon 18 of the COL4A3 gene. Among relatives carrying the novel mutation, the clinical phenotype was variable. Two additional COL4A3 mutations were found, a Pro-Leu substitution in exon 48 (p.P1461L) and a Ser-Cys substitution in exon 49 (p.S1492C), non-pathogenics alone. CONCLUSION: Carriers of p.G333E and p.P1461L or p.S1492C mutations in COL4A3 gene appear to be more severely affected than carriers of only p.G333E mutation, and the clinical findings has an earlier onset. In this way, we could speculate on a synergistic effect of compound heterozygosity that could explain the different phenotype observed in this family.

Quadrupedal Robot Locomotion: A Biologically Inspired Approach and Its Hardware Implementation.

A bioinspired locomotion system for a quadruped robot is presented. Locomotion is achieved by a spiking neural network (SNN) that acts as a Central Pattern Generator (CPG) producing different locomotion patterns represented by their raster plots. To generate these patterns, the SNN is configured with specific parameters (synaptic weights and topologies), which were estimated by a metaheuristic method based on Christiansen Grammar Evolution (CGE). The system has been implemented and validated on two robot platforms; firstly, we tested our system on a quadruped robot and, secondly, on a hexapod one. In this last one, we simulated the case where two legs of the hexapod were amputated and its locomotion mechanism has been changed. For the quadruped robot, the control is performed by the spiking neural network implemented on an Arduino board with 35% of resource usage. In the hexapod robot, we used Spartan 6 FPGA board with only 3% of resource usage. Numerical results show the effectiveness of the proposed system in both cases.

Genetic risk profiles for a childhood with severe overweight.

OBJECTIVE: The objective of this study was the description of a valid genetic risk score (GRS) to predict individuals with high susceptibility to childhood overweight by their genetic profiles. DESIGN AND METHODS: Case-control study including a group of children with high-risk familial predisposition to morbid obesity. Birth cohort from general population constituted the validation sample. For the discovery sample, 218 children with non-syndromic obesity and 190 control individuals were included. The validation sample was 653 children from two birth cohorts belonging to the INMA (Infancia y Medio Ambiente [Environment and Childhood] )project. 109 SNPs located in the genes FTO, SEC16B, BDNF, ETV5, SH2B1, GNPDA2, LYPLAL1, MSRA, TFAP2, KCTD15, MTCH2 and NEGR1, previously reported in association to body mass index (BMI) were analysed. For the validation sample, association between genome-wide data and BMI measurements between 3.5 and 5 years of age, were evaluated. RESULTS: The GRS includes six SNPs in the genes FTO, TFAP2B, SEC16B, ETV5 and SH2B1. The score distribution differs among cases and controls (P = 9.2 × 10(-14) ) showing a significant linear association with obesity (odds ratio [OR] per allele = 1.69; confidence interval [CI] 95% = 1.46-1.97; P = 4.3 × 10(-1) and area under the receiver operating characteristic curve [AUC] = 0.727; CI 95% = 0.676-0.778). The results were validated by the INMA cohort (OR per allele = 1.23 CI 95% = 1.03-1.48 and AUC = 0.601 CI 95% = 0.522-0.680). CONCLUSIONS: The use of our proposed genetic score provides useful information to determine those children who are susceptible to obesity. To improve the efficiency of clinical prevention and treatment of obesity, it is essential to design individualized based protocols in advance knowledge of the molecular basis of inherited susceptibility.

Irinotecán y temozolomida en tumores sólidos pediátricos en recaída o refractarios / Irinotecan plus temozolomide in refractory or relapsed pediatric solid tumors

Introducción: El pronóstico de los tumores sólidos pediátricos refractarios o en recaída es infausto, y actualmente no existen tratamientos estandarizados para este tipo de situaciones. La combinación irinotecán y temozolomida ha demostrado su utilidad en adultos como segunda línea de tratamiento en distintos tumores sólidos. En pacientes pediátricos ya ha demostrado su eficacia en sarcoma de Ewing, neuroblastoma o rabdomiosarcoma en recaída o refractario. Pacientes y métodos: Se ha realizado un estudio retrospectivo de 32 pacientes pediátricos con tumores sólidos en recaída o refractarios que fueron tratados con irinotecán y temozolomida desde septiembre de 2005 hasta junio de 2012 en el Servicio de Oncología del Hospital Infantil Niño Jesús. Se analizaron las características clínicas, el tratamiento realizado, la toxicidad presentada y la respuesta obtenida. Resultados: Treinta y dos pacientes recibieron un total de 180 ciclos. De 30 pacientes valorables, 10 (33%) presentaron respuesta positiva (2 remisión completa y 8 remisión parcial) y 8 (27%) mantuvieron enfermedad estable. El 94% de los pacientes que obtuvo respuesta lo hicieron en los 4 primeros ciclos. De los 180 ciclos analizados, solo 50 (28%) presentaron toxicidad y, de ellos, solo 15 (8%) fueron de grado III-IV . La toxicidad más frecuente fue la diarrea que apareció en 18 pacientes. Todos los pacientes recibieron el tratamiento de forma ambulatoria, excepto 3 que precisaron ingreso por síntomas relacionados con su enfermedad de base. Conclusión: La combinación irinotecán y temozolomida es bien tolerada y activa frente a tumores sólidos pediátricos refractarios al tratamiento o en recaída (AU)

Introduction: The prognosis of refractory or relapsed pediatric solid tumors is very poor, and there is no standard treatment for this condition. The combination of irinotecan and temozolomide has proved useful in adults as a second-line treatment of different solid tumors. In pediatric patients, this combination has been effective in Ewing's sarcoma, neuroblastoma, and relapsed or refractory rhabdomyosarcoma. Patients and methods: A retrospective study was conducted on 32 pediatric patients with refractory or relapsed solid tumors, who were treated with irinotecan and temozolomide in the Oncology Department at Children's Hospital Niño Jesus from September 2005 to June 2012. The clinical characteristics, treatment performed, toxicity and outcome, were analyzed. Results: Thirty-two patients received a total of 180 cycles. Of the 30 evaluable patients, 10 (33%) had a positive response (2 complete remission and 8 partial remission), and in 8 (27%) the disease remained stable. Almost all (94%) of the patients achieved a response in the first four cycles. Of the 180 cycles analyzed, only 50 (28%) had toxicity, and of these only 15 (8%) were grade III-IV . The most common toxicity was diarrhea appearing in 18 patients. All patients received ambulatory treatment, except three of them who required hospitalization due to symptoms of their underlying disease. Conclusion: The combination of irinotecan and temozolomide is well tolerated and active against pediatric refractory or relapsed solid tumors (AU)

[Irinotecan plus temozolomide in refractory or relapsed pediatric solid tumors]. / Irinotecán y temozolomida en tumores sólidos pediátricos en recaída o refractarios.

INTRODUCTION: The prognosis of refractory or relapsed pediatric solid tumors is very poor, and there is no standard treatment for this condition. The combination of irinotecan and temozolomide has proved useful in adults as a second-line treatment of different solid tumors. In pediatric patients, this combination has been effective in Ewing's sarcoma, neuroblastoma, and relapsed or refractory rhabdomyosarcoma. PATIENTS AND METHODS: A retrospective study was conducted on 32 pediatric patients with refractory or relapsed solid tumors, who were treated with irinotecan and temozolomide in the Oncology Department at Children's Hospital Niño Jesus from September 2005 to June 2012. The clinical characteristics, treatment performed, toxicity and outcome, were analyzed. RESULTS: Thirty-two patients received a total of 180 cycles. Of the 30 evaluable patients, 10 (33%) had a positive response (2 complete remission and 8 partial remission), and in 8 (27%) the disease remained stable. Almost all (94%) of the patients achieved a response in the first four cycles. Of the 180 cycles analyzed, only 50 (28%) had toxicity, and of these only 15 (8%) were grade iii-iv. The most common toxicity was diarrhea appearing in 18 patients. All patients received ambulatory treatment, except three of them who required hospitalization due to symptoms of their underlying disease. CONCLUSION: The combination of irinotecan and temozolomide is well tolerated and active against pediatric refractory or relapsed solid tumors.

[Conjunctival keratoacanthoma: diagnosis, treatment and monitoring by conjunctival impression cytology]. / Queratoacantoma conjuntival. Diagnóstico, tratamiento y control mediante citología de impresión conjuntival.

CASE REPORT: We present a case report of a 28-year-old patient with a lesion that is compatible both clinically and histopathologically with conjunctival keratoacanthoma. The treatment given was complete excision and 0.04% mitomycin C eye drops in the postoperative period. The outcome was a complete clinical remission during the follow-up period (6 months). DISCUSSION: It is important to make a correct differential diagnosis between keratoacanthoma and squamous cell carcinoma, as well as carrying out close monitoring after surgery due to the possibility of relapse and conversion to squamous cell carcinoma. For this reason, we propose the use of conjunctival impression cytology as a non-invasive method for monitoring such patients.

Queratoacantoma conjuntival. Diagnóstico, tratamiento y control mediante citología de impresión conjuntival / Conjunctival keratoacanthoma. Diagnosis, treatment and monitoring by conjunctival impression cytology

Caso clínico: Se presenta el caso de un paciente de 28 años con una lesión compatible clínica e histopatológicamente con queratoacantoma conjuntival. Fue tratado mediante excisión completa, y colirio de mitomicina C al 0,04% en el posoperatorio. El resultado ha sido la remisión clínica completa durante el tiempo de seguimiento (6 meses). Discusión: Es importante hacer un correcto diagnóstico diferencial entre queratoacantoma y carcinoma de células escamosas, así como un estrecho seguimiento postoperatorio por la posibilidad de recidiva o conversión a carcinoma de células escamosas. Para ello proponemos la citología de impresión conjuntival como un método no invasivo para el seguimiento de estos pacientes(AU)

Case report: We present a case report of a 28-year-old patient with a lesion that is compatible both clinically and histopathologically with conjunctival keratoacanthoma. The treatment given was complete excision and 0.04% mitomycin C eye drops in the postoperative period. The outcome was a complete clinical remission during the follow-up period (6 months). Discussion: It is important to make a correct differential diagnosis between keratoacanthoma and squamous cell carcinoma, as well as carrying out close monitoring after surgery due to the possibility of relapse and conversion to squamous cell carcinoma. For this reason, we propose the use of conjunctival impression cytology as a non-invasive method for monitoring such patients(AU)

[Cerebrovascular disease in childhood: a retrospective analysis of hospital admissions in a tertiary hospital in the community of Valencia in the last ten years]. / Enfermedad cerebrovascular en la infancia. Análisis retrospectivo de los ingresos hospitalarios en los últimos diez años en un hospital terciario de la Comunidad Valenciana.

INTRODUCTION: There has been increasing interest in stroke in children in the last few years. A literature review produced little information on risk factors and other clinical questions. The aim of this study is to describe the characteristics of stroke in children, mainly in order to identify the risk factors, clinical presentation and outcomes. PATIENTS AND METHODS: A retrospective study was conducted on patients admitted to the Hospital La Fe in Valencia between January 2000 to September 2010 with the diagnosis of ischaemic or haemorrhagic stroke. RESULTS: A total of 76 patients were identified, of whom 44.7% had an ischaemic stroke and 55.3% had a haemorrhagic one. The average age of presentation was 6.8 years; 8.4 years for haemorrhagic strokes and 4.7 years for ischaemic strokes. Headache was the most frequent symptom of presentation. The most frequent risk factor was vascular malformations in haemorrhagic cerebral stroke, and vascular and cardiac disorders in ischaemic stroke. A study of prothrombotic factors was conducted on 34 patients, which was positive in 64.7% of them. As regards outcome, 17% of the patients died; only 3 patients had a secondary epilepsy, and 31% and 60% of the haemorrhagic and ischaemic stokes, respectively, had a hemiparesis. CONCLUSIONS: In this study we identified the principal risk factors as well as, the age of presentation, symptomatology and outcome. We would like to emphasise that the age of presentation was earlier in ischaemic strokes than in haemorrhagic ones.

Hemorragia intracraneal intraútero por trombopenia neonatal aloinmune: a propósito de dos casos y revisión de la literatura / In utero intracranial hemorrhage caused by neonatal alloimmune thrombocytopenia (NAIT). Report of two cases and literature update

Introducción: La trombopenia neonatal aloinmune (TNAI) es la causa más frecuente de trombopenia grave, aislada y precoz en el recién nacido sano. Es el resultado de la aloinmunización materna frente a antígenos plaquetarios humanos (HPA) del feto. El mecanismo fisiopatológico todavía es poco conocido. El paso de anticuerpos se produce en etapas tempranas de la gestación con consecuencias graves, como la hemorragia intracraneal. Casos clínicos: Se presentan dos casos de hemorragia intracraneal intraútero secundarios a TNAI. El primero de ellos seinicia con una gran hemorragia intraparenquimatosa, y requiere una única transfusión de donante aleatorio para remontar la cifra de plaquetas. El segundo se presenta con una hemorragia intraventricular y se trata con transfusiones seriadas de plaquetasHPA-1a negativas e inmunoglobulina intravenosa. Discusión y conclusiones: La TNAI se presenta generalmente como una trombopenia aislada y grave en el recién nacido. Eldiagnóstico es de exclusión y se confirma mediante la detección de anticuerpos antiplaquetarios en la madre. Dada la gravedad de las consecuencias, ante la sospecha de TNAI, deben realizarse de inmediato transfusiones de plaquetas, preferentemente de las compatibles, para evitar hemorragias. El riesgo de recurrencia en futuras gestaciones es muy elevado, por lo que se debe establecer un protocolo de manejo de éstas. El reto de futuro es el establecimiento de un cribado antenatal, como ya se hace con la isoinmunización Rh (AU)

Introduction: The neonatal alloimmune thrombocytopenia (NAIT) is the commonest cause of early isolated severe thrombocytopenia in the healthy newborn. It’s the result of maternal alloimmunization against fetal platelet antigens. However, the pathophysiologic mechanism is not well known yet. Alloantibodies cross the placenta in early stages of pregnancy provoking serious complications in the newborn such as intracranial hemorrhage. Case report: We present two cases of in utero intracranial hemorrhage caused by TNAI. In one of them a large intraparenchymal hemorrhage (IPH) was the first clinical symptom, how everhe recovered platelet count with just one transfusion of an aleatory donor, not needing further treatment. The second one exhibited at first an intraventricular hemorrhage (IVH) and was treated with serial transfusions of HPA-1a negative platelets and intravenous immunoglobulin (IVIG).Discussion and conclusions: The NAIT appears commonly as an isolated and severe thrombocytopenia in the newborn period. The diagnosis is made after excluding other causes of neonatal thrombocytopenia, and is confirmed proving the presence of maternal antiplatelet alloantibodies. Due to the severity of its consequences, when confronted with the suspicion of TNAI, a platelet transfusion should to be performed immediately preferably with negative antigen platelets to avoid bleeding. Since there is a high risk of recurrence in following gestations the availability of an established protocol is recommended. The future challenge is the establishment of antenatal screening programs similar to that performed in Rh isoimmunization (AU)

Adenoma tóxico como causa de hipertiroidismo en la infancia. Diagnóstico y tratamiento / Toxic adenoma as cause of hyperthyroidism in childhood. Diagnosis and treatment

El adenoma tóxico es una causa frecuente de hipertiroidismo en la edad adulta. No obstante, su baja prevalencia en la infancia hace de ésta una patología de especial interés, siendo motivo de discusión en la actitud terapéutica dado su mayor riesgo de malignidad. Describimos el caso de una paciente de 9 años de edad con una tumoración cervical anterior. En el estudio se detecta nódulo tiroideo hiperfuncionante con elevación de T3L, con diagnóstico definitivo de adenoma tóxico tiroideo en la anatomía patológica (AU)

The toxic adenoma is a common cause of hyperthyroidism in adulthood. However, its low prevalence in childhood makes it a condition of particular interest to be a matter of discussion in the therapeutic attitude due to its increased risk of malignancy. We describe the case of a 9 year-old patient with an anterior cervical tumour. The study detected thyroid nodule hiperfuncionante with elevated T3L, with a definitive diagnosis of toxic thyroid adenoma in the pathology (AU)

Euresis infantile: la importancia de una correcta intervención / Childhood enuresis: the importance of a correct intervention

Introducción: la enuresis nocturna monosintomática (ENM) es una enfermedad muy frecuente en la infancia que favorece la aparición de problemas psicológicos y de autoestima; sin embargo, sigue siendo una entidad infravalorada. Objetivos: 1. Conocer las características epidemiológicas y clínicas de una serie de niños enuréticos. 2. Seguir la evolución de estos pacientes desde que acudieron a nuestra consulta hasta el alta. Material y métodos: Estudio descriptivo retrospectivo incluyendo 67 niños derivados a una consulta hospitalaria durante los años 1997-2005 por presentar enuresis. Se recogieron los datos epidemiológicos, clínicos y terapéuticos antes y después de la visita a una consulta especializada. Resultados: Se revisaron 67 pacientes. 76,1% correspondieron a ENM y 23,9% a síndrome enurético. Presentamos 51 casos de ENM (66,7% niños y 33,3% niñas). Existían antecedentes familiares en el 80,4%. Solo el 47,1% había recibido tratamiento previo. La valoración psicosocial resultó normal en el 94,1% y la exploración física en el 92,2%. En el 78,4% se solicitaron pruebas complementarias. Los tratamientos más empleados fueron: pauta básica, desmopresina (45,1%) y desmopresina más anticolinérgicos (33,35%). Aparecieron efectos secundarios relacionados con la desmopresina en el 11,8%. Se curó el 74,5%. Conclusiones: Es necesario concienciar al paciente a sus familiares de este problema y fomentar el tratamiento precoz de la ENM. En la ENM la valoración básica psicosocial y la exploración física son casi siempre normales. Los exámenes complementarios pueden reducirse a un examen de orina. Recordar que el tratamiento requiere tiempo y detectar precozmente sus efectos secundarios es fundamental para evitar el abandono del mismo (AU)

Background. Nocturnal Enuresis is a common illness in childhood that involves psychological and self-esteem problems. However, enuresis is often misunderstood. Objective: 1. Review the main epidemiologic and clinical characteristics of a group of enuretic children. 2. Follow up of these patients from admission until discharge from hospital. Material and methods: Descriptive, retrospective study including 67 children sent to the out patient department during 199-2005 for enuresis. Epidemiological, clinical and treatment data were recorded before and after visiting the specialist. Results: 67 patients were reviewed: 76,1% were found to have Monosyptomatic Nocturnal Enuresis (MNE) and 23,9% were found to have enuretic syndrome. In this study we present 51 cases of MNE (66,7% male and 33,3% female under the age of fourteen years). There was a family history of nocturnal enuresis in 80,4%. In our experience we founded that only 47,1% had received treatment before they arrived at hospital. Psychosocial evaluation was normal in 94,1% and physical examination in 92,2%. In 78,4% of the patients routine exams were carried out. The most frequent treatments were: behavioral intervention, desmopressin 845,1%) and desmopressin + cholinergic antagonists (33,35%). Secondary effects related to desmopressin were observed in 11,8%. 74,5% of the subjects mad a good recovery from enuresis. Conclusions: it is important to make patient and family aware of this problem and to promote the early treatment of MNE. Basic psychosocial examination and physical examination are usually normal in MNE. Routine exams can be reduced to an urine exam. The treatment can be over long duration and the early detection of secondary effects is basic to avoid treatment abandonment (AU)

[Severe acquired aplastic anemia: historical outcome of patients treated by allogeneic bone marrow transplantation from matched sibling donors. A study by the Spanish Group for Bone Marrow Transplantation in Children (GETMON)]. / Aplasia medular grave adquirida: evolución histórica de los resultados obtenidos con trasplante de progenitores hematopoyéticos de donante familiar. Estudio del Grupo Español para el Trasplante de Médula Osea en Niños (GETMON).

INTRODUCTION: Allogeneic haematopoietic stem-cell transplantation is the treatment of choice for acquired aplastic anaemia in children. Experience with this approach from Spanish Working Party for Bone Marrow Transplantation in Children in two sequential time periods (1982-1990 and 1991-2004) is reported. PATIENTS AND METHODS: Sixty two consecutive patients with a median age of 10 years were transplanted; 18 in the 1982-1990 period and 44 in the 1991-2004 period. Conditioning regimen consisted mainly of irradiation and cyclophosphamide in the first period (72 % of patients) and cyclophosphamide +/- anti-thymocyte globulin (62 %) in the second. Graft versus host disease prophylaxis consisted of cyclosporine in most patients (57/62). RESULTS: Fifty one patients are alive and disease-free at a median follow-up of 127 months. Five years probability of event-free survival is 82 %. The survival increased from 61 % to 91 % during the two time periods. Eleven patients died from graft failure or rejection (3), acute or chronic graft versus host disease and infection (4) or multi-organ failure (4). Univariate analysis identified two significant prognostic factors: interval diagnostic/transplant and time period of transplant (for both p = 0.03). CONCLUSIONS: This experience corroborates that allogeneic haematopoietic stem-cell transplantation is the best treatment for severe acquired aplastic anaemia, with a current disease-free survival of 90 % of patients.