A Peripheral Blood Diagnostic Test for Acute Rejection in Renal Transplantation

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/93759/1/j.1600-6143.2012.04253.x.pd

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6 ½-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24- hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH) levels, and elevated 1,25(OH)2D level. In addition, the patient had low to low-normal serum phosphorus with high urine phosphorus. The patient had normal stature; without rachitic or boney deformities or a history of fractures. Genetic analysis of SLC34A3 revealed the patient to be a compound heterozygote for a novel single base pair deletion in exon 12 (c.1304delG) and 30-base pair deletion in intron 6 (g.1440–1469del). The single-base pair mutation causes a frameshift, which results in premature stop codon. The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63 bp, which would impair proper RNA splicing of the intron. This is the fourth unique intronic deletion identified in patients with HHRH, suggesting the frequent occurrence of sequence misalignments in SLC34A3 and the importance of screening introns in patients with HHRH

El bosque secundario de la llanura aluvial inundable en la zona de Jenaro Herrera, Amazonia Peruana: uso, manejo y contribucion a la economia del poblador ribereno

Secondary forests in the flood plains are important from the ecological, social and economical point of view. In this paper the management of these areas and their contribution to the economy of riverine communities in the Jenaro Herrera district is presented. A total of 108 families in 12 communities located in the flood plains about Jenaro Herrera were interviewed. Eighty six percent of the land holders had their cropping areas located in the physiographic unit ‘restinqa’, particularly in the new communities. Existing secondary forest fallows (locally called ‘purmas’) in the flood plains were part of the cropping rotation cycle. Forty eight percent of the interviewed people were carrying out some management in their forest fallows, this being more intense in the ‘high restinga’. Species under silvicultural treatment were mainly Cedrela odorato (cedro) and Calicophyllum pruceanum (capiroria negra). Flood plain fallows provide around 7% of natural resources extracted in the zone, whereas fruits are the highest contribution in the total value of products

Caracterizacion del uso de la tierra y bosques secundarios en la llanura aluvial inundable de la zona Muyuy-Iquitos, Amazonia Peruana

Results based on a socioeconomic survey on flood plain forest fallows are presented. The study was aimed at identifying the factors influencing people's decisions on land use and forest resource utilisation, and to provide some preliminary biophysical information. It was found that 93% of local landholders predominantly use low "restinga" sites, and that the major reason for forest fallows is to recover soil fertility. Furthermore, forest conversion and re-conversion processes are a function of community age and parcel size. Over 50% of landholders manage their forest fallows mainly to encourage two tree species: Calycophyllum spruceanum (capiro na) and Cedrela odorata (cedro). The results of this study are encouraging to promote local forests fallows management plans

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na+)-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting resulting in hypophosphatemia, correspondingly elevated 1,25(OH)(2) vitamin D levels, hypercalciuria, and rickets/osteomalacia. Similar, albeit less severe, biochemical changes are observed in heterozygous (het) carriers and indistinguishable from those changes encountered in idiopathic hypercalciuria (IH). Here, we report a review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel SLC34A3 mutations (c.1357delTTC [p.F453del]; c.G1369A [p.G457S]; c.367delC) were identified. Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type SLC34A3 allele (P=0.005) or 5.64% in the general population (P<0.001). Renal calcifications were also more frequent in het carriers (16%; P=0.003 compared with the general population) and were more likely to occur in comp/hom and het individuals with decreased serum phosphate (odds ratio [OR], 0.75, 95% confidence interval [95% CI], 0.59 to 0.96; P=0.02), decreased tubular reabsorption of phosphate (OR, 0.41; 95% CI, 0.23 to 0.72; P=0.002), and increased serum 1,25(OH)(2) vitamin D (OR, 1.22; 95% CI, 1.05 to 1.41; P=0.008). Additional studies are needed to determine whether these biochemical parameters are independent of genotype and can guide therapy to prevent nephrocalcinosis, nephrolithiasis, and potentially, CKD