How immunogenetically different are domestic pigs from wild boars: a perspective from single-nucleotide polymorphisms of 19 immunity-related candidate genes.

The coexistence of wild boars and domestic pigs across Eurasia makes it feasible to conduct comparative genetic or genomic analyses for addressing how genetically different a domestic species is from its wild ancestor. To test whether there are differences in patterns of genetic variability between wild and domestic pigs at immunity-related genes and to detect outlier loci putatively under selection that may underlie differences in immune responses, here we analyzed 54 single-nucleotide polymorphisms (SNPs) of 19 immunity-related candidate genes on 11 autosomes in three pairs of wild boar and domestic pig populations from China, Iberian Peninsula, and Hungary. Our results showed no statistically significant differences in allele frequency and heterozygosity across SNPs between three pairs of wild and domestic populations. This observation was more likely due to the widespread and long-lasting gene flow between wild boars and domestic pigs across Eurasia. In addition, we detected eight coding SNPs from six genes as outliers being under selection consistently by three outlier tests (BayeScan2.1, FDIST2, and Arlequin3.5). Among four non-synonymous outlier SNPs, one from TLR4 gene was identified as being subject to positive (diversifying) selection and three each from CD36, IFNW1, and IL1B genes were suggested as under balancing selection. All of these four non-synonymous variants were predicted as being benign by PolyPhen-2. Our results were supported by other independent lines of evidence for positive selection or balancing selection acting on these four immune genes (CD36, IFNW1, IL1B, and TLR4). Our study showed an example applying a candidate gene approach to identify functionally important mutations (i.e., outlier loci) in wild and domestic pigs for subsequent functional experiments.

Cardiogenic shock in a neonate.

We describe a case of a healthy male full-term neonate, 21 days old, admitted to the emergency room, presenting a severe cardiovascular collapse with an initial sinus rhythm. The first diagnostic hypothesis was of septic shock, having antibiotics, fluid resuscitation, inotropic drugs and ventilatory support started immediately. After achieving haemodynamic stability, a new cardiovascular collapse occurred with supraventricular tachycardia (SVT). The latter was successfully treated and the neonate did not suffer any organ damage. Cardiogenic shock should be considered despite being a much rarer cause of shock in neonates. SVT is promptly diagnosed when a cardiorespiratory monitor is available; however, the intermittent occurrence of the tachycardia episodes makes this diagnosis more difficult to recognise and manage.

Xanthogranulomatous pyelonephritis presenting as a pseudotumour in a 5-year-old boy.

Xanthogranulomatous pyelonephritis (XGPN) is a rare, severe and atypical form of chronic pyelonephritis. It is characterised by destruction of the renal parenchyma and replacement with a chronic inflammatory infiltrate and lipid-laden macrophages resulting in a non-functional kidney. The authors report a case of a 5-year-old boy presented with a history of abdominal pain, malaise, anorexia and weight loss for 2 months. Physical examination revealed a large flank mass and the child was directed to the oncology unit on suspicion of renal tumour. Based on clinical examination and imaging, the presumptive diagnosis of XGPN of the left kidney was made. A left transperitoneal nephrectomy was performed and the histology confirmed the diagnosis. Although rare, XGPN is a clinically important entity that should be considered in the differential diagnosis of an atypical-appearance renal mass in paediatric age.

A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.

Accidental bony injuries are common in children. Children may also present with bony injuries following non-accidental injuries. Pathological fractures, though extremely rare, are an important entity and constitute fractures that occur in abnormal bones, usually after minor trauma. Pycnodysostosis is a rare skeletal dysplasia characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility. Often the disease is diagnosed at an early age as a result of the investigation of short stature. However, the diagnosis is sometimes delayed and must be considered in any child with a history of recurrent or multiple bone fractures and dysmorphic features. The purpose of this report is to describe the clinical, radiological and genetic issues of a 9-year-old girl with a long history of multiple bone fractures. She had been subjected to safeguarding investigations previously and was identified to have dysmorphic features diagnosed as pycnodysostosis associated with craniosynostosis.

Giant placental chorioangioma: a rare cause of fetal hydrops.

Giant choriangiomas are rare placental tumours, associated with a high prevalence of pregnancy complications and a poor perinatal outcome. Neonatal consequences include severe microangiopathic haemolytic anaemia, thrombocytopaenia and hydrops. The associated high perinatal death rate (30-40%) has led to a number of prenatal therapeutic interventions with limited success in most cases. The authors present a case of non-immune fetal hydrops caused by a giant chorioangioma, diagnosed at 27 weeks of gestational age. Despite tocolytic therapy, the baby was born prematurely (28 weeks of gestational age) and required transfusion of blood derivatives, intensive phototherapy and exchange transfusion. She had an uncomplicated recovery and was discharged home in the second month of life. The authors emphasise the need to consider chorioangioma as a cause of non-immune fetal hydrops and microangiopathic haemolytic anaemia.

Interação entre fungos micorrízicos arbusculares e ácido indolbutírico sobre o desenvolvimento vegetativo de plântulas do porta-enxerto de pessegueiro 'Aldrighi' / Effect of arbuscular mycorrhizal fungi and indolebutyric acid interaction on vegetative growth of 'Aldrighi' peach rootstocks seedlings

Objetivou-se, neste trabalho, avaliar o efeito da interação entre três espécies de fungos micorrízicos arbusculares (FMAs) (Gigaspora margarita W.N. Becker & I.R. Hall., Glomus clarum Nicol & Schenck e Glomus etunicatum Becker & Gerd) e a aplicação radicular de ácido indolbutírico (AIB; 1,5 g.L-1) sobre o crescimento vegetativo e nutrição mineral de mudas do porta-enxerto de pessegueiro (Prunus persica) cv. Aldrighi. Foi utilizado o delineamento experimental de blocos ao acaso, com oito tratamentos, quatro repetições por tratamento e dez plantas por parcela. A aplicação do AIB não alterou o desenvolvimento vegetativo das plantas cultivadas em ausência de FMAs, apesar de aumentar a quantidade de potássio nos tecidos. Glomus clarum e Glomus etunicatum incrementaram o crescimento vegetativo e o conteúdo de nitrogênio, fósforo e potássio dos tecidos das plantas. Plantas inoculadas com FMAs, ao serem tratadas com AIB, apresentaram incremento no desenvolvimento vegetativo e nos conteúdos nutricionais, comparativamente àquelas não tratadas com a auxina.

The objective of this work was to evaluate the effect of the interaction between three arbuscular mycorrhizal fungi (AMFs) species (Gigaspora margarita W.N. Becker & I.R. Hall., Glomus clarum Nicol & Schenck and Glomus etunicatum Becker & Gerd) and the rooting application of indolebutyric acid (IBA; 1,5 g.L-1) on the vegetative growth and shoot mineral nutrition on peach tree rootstock (Prunus Persica) seedlings cv. Aldrighi. Random block delineation was used, with eight treatments, four repetitions per treatment and ten plants per plot. The application of IBA didn't alter the vegetative development of the plants cultivated in absence of AMFs, in spite of having increased the amount of potassium. Glomus clarum and Glomus etunicatum increased the vegetative growth and the nitrogen, phosphorus and potassium shoot contents of the inoculated plants. Inoculated plants treated with IBA presented a increment in vegetative development and shoot nutritional contents compared to those cultivated in absence of IBA.

Idiopathic congenital chylothorax treated with octreotide.

Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery. We report a case of idiopathic congenital chylothorax treated with octreotide (a somatostatin analogue), avoiding surgery after failed conservative medical treatment. The patient promptly improved after initiation of endovenous octreotide treatment (10 µg/kg/h) with no observed side effects.

Incremento no desenvolvimento do porta-enxerto de pessegueiro "Aldrighi" por fungos micorrízicos arbusculares autóctones / Development increase of 'Aldrighi' peach rootstocks by indigenous arbuscular mycorrhizal fungi

Objetivou-se, neste trabalho, avaliar a influência de três espécies de fungos micorrízicos arbusculares (FMA) isolados de pomares de pessegueiro sobre o crescimento vegetativo, nutrição mineral e substâncias de reserva em plantas do porta-enxerto de pessegueiro cv. Aldrighi [Prunus persica (L.) Batsch]. O delineamento experimental utilizado foi o de blocos casualizados, com dez plantas por parcela e quatro repetições. As plantas inoculadas com Glomus etunicatum apresentaram maior altura, diâmetro, área foliar, biomassa fresca e seca, nutrição mineral e substâncias de reserva da parte aérea, enquanto as inoculadas com Glomus clarum induziram um crescimento intermediário, superior àquelas inoculadas com Gigaspora margarita, que apresentaram resultados semelhantes às plantas não inoculadas. O desempenho foi relacionado com as taxas de colonização que nas plantas inoculadas com Glomus etunicatum e Glomus clarum foram de 92% e 77% respectivamente, enquanto Gigaspora margarita colonizou somente 30% das raízes.

This work aimed to evaluate the influence of three arbuscular mycorrhizal fungi (AMF) species on the vegetative growth, mineral nutrition and carbohidrate contents on peach rootstocks cv. Aldrighi [Prunus persica (L.) Batsch]. The experimental desingwas the one of randomized blocks, with ten plants per plots and four repetitions. Plants inoculated with Glomus etunicatum presented larger stem height, stem diameter, foliar area, fresh and dry shoot biomass, leaf mineral nutrition and carbohidrate contents,while those inoculated with Glomus clarum induced an intermediate growth, higher to those inoculated with Gigaspora margarita that presented results similar to the non inoculated plants. Plant growth performance was related to colonization taxes, which were, respectively, 92%, 77% and 30% to Glomus etunicatum, Glomus clarum and Gigaspora margarita inoculated plants.