PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

PUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with PUF60-related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with PUF60 gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel PUF60 variants. The addition of a further patient with a reported c449-457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in PUF60-related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in PUF60-related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with PUF60-related developmental disorder which has important genetic counseling implications for families.

A form of apolipoprotein a-I is found specifically in relapses of focal segmental glomerulosclerosis following transplantation.

Recurrence of idiopathic focal segmental glomerulosclerosis (FSGS) following kidney transplantation occurs in a large percentage of patients. Accurate prediction of recurrence and elucidation of its pathogenesis are major therapeutic goals. To detect differential proteins related to FSGS recurrence, proteomic analysis was performed on plasma and urine samples from 35 transplanted idiopathic FSGS patients, divided into relapsing and nonrelapsing. Several proteins were detected increased in urine of relapsing FSGS patients, including a high molecular weight form of apolipoprotein A-I, named ApoA-Ib, found exclusively in relapsing patients. This finding was verified by Western blot individually in the 35 patients and validated in an independent group of 40 patients with relapsing or nonrelapsing FSGS, plus two additional groups: FSGS-unrelated patients showing different proteinuria levels (n = 30), and familial FSGS transplanted patients (n = 14). In the total of 119 patients studied, the ApoA-Ib form was detected in 13 of the 14 relapsing FSGS patients, and in one of the 61 nonrelapsing patients. Only one of the 30 patients with FSGS-unrelated proteinuria tested positive for ApoA-Ib, and was not detected in familial patients. Urinary ApoA-Ib is associated with relapses in idiopathic FSGS and warrants additional investigation to determine its usefulness as biomarker of relapse following transplantation.

Evaluation of biodiesel as bioremediation agent for the treatment of the shore affected by the heavy oil spill of the Prestige.

The efficiency of different bioremediation products (nutrients, microorganisms and biodiesel) was tested using tiles located in both the supra-littoral and intertidal zones of a beach that was affected by the heavy oil spill of the Prestige. Neither nutrients nor microorganisms meant an improvement with respect to the natural processes. The addition of biodiesel improved the appearance of the treated tiles and apparently accelerated the degradation of the aliphatic and aromatic fractions of the residual fuel oil. Nevertheless, PAHs degradation was similar and very high in all the treatments (80-85% after 60 days). On the other hand, the evolution with time of the amount of vanadium was similar to that of 17alpha(H),21beta(H)-hopane, so it was concluded that vanadium could also be used to estimate the extent of oil degradation in the field. These results also suggested that the residual fuel oil mineralization was very low throughout 1 year in all the treatments. Moreover, the increase of the oxygen content of the residual oil from around 1% till 4-8% indicated that the partial oxidation of hydrocarbons took place, and that the hydrocarbon oxidation products accumulated in the polar fractions. In general, the results pointed out that bioremediation techniques were not suitable for the recovery of shores affected by heavy oil spills.

Trials of bioremediation on a beach affected by the heavy oil spill of the Prestige.

The objective of this study was to assess the efficiency of several bioremediation products in accelerating the in situ biodegradation of the heavy fuel oil spill of the Prestige. Trials of bioremediation were conducted in sand, rocks and granite tiles on the beach of Sorrizo (A Coruña, NW Spain) that was polluted by the spill. Neither the added microorganisms nor the nutrients significantly enhanced the degradation rate of the fuel oil in rocks, granite tiles or sand. PAH degradation up to 80% was determined in sand and tiles. In tiles the oxygen content of the residual oil increased from 1.6% up to 8% in 90 days, which could be explained by the accumulation of products coming from the partial oxidation of the hydrocarbons. Eighteen months after the spill, the rocks of the beach were still coated by a black layer of weathered fuel oil. For this reason an oleophilic product, sunflower biodiesel was tested on a rock. The application of biodiesel accelerated the gradually clean-up of the polluted surface and could also accelerate the degradation of the residual oil.

The thalamus of the dog: a tridimensional and cytoarchitectonic study.

The organization of the thalamus varies considerably from species to species. This article reports a tridimensional study of the canine thalamus in which 18 nuclei were distinguished on the basis of their delimitation in sections and their differing cytoarchitectonic characteristics, the latter having been objectively quantified by means of an image analyser. On the basis of their location and/or mutual similarities, these 18 nuclei are classified in 5 groups. The thalamus of the dog is similar to that the cat, but differs considerably from those of other well-studied species.

Topography and microscopical configuration of the corpus striatum of the dog.

The basal ganglia are very similarly disposed in superior animal, but their way of grouping is different in human species and domestic mammals. We have studied them in the dog, except for the Nucleus accumbens, from macroscopic and microscopic points of view, with the help of 25 and 50 pm thick transverse serial sections, stained by Nissl's technique. Each of these nuclei presents its own characteristics, as well topographically and extended as of shape, size and neuron density.