The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. This disorder was described to have an age of onset between the age of 20-30 years or even later. Mutations in the Uromodulin (UMOD) gene were published in patients with familial juvenile hyperuricemic nephropathy (FJHN) and MCKD2. Clinical data and blood samples of 16 affected individuals from 11 different kindreds were collected. Mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing. We found the heterozygous C744G (Cys248Trp) mutation, which was originally published by our group, in an additional four kindreds from Europe and Turkey. Age of onset ranged from 3 years to 39 years. The phenotype showed a variety of symptoms such as urinary concentration defect, vesicoureteral reflux, urinary tract infections, hyperuricemia, hypertension, proteinuria, and renal hypoplasia. Haplotype analysis showed cosegragation with the phenotype in all eight affected individuals indicating that the C744G mutation may be due to a founder effect. Moreover, we describe a novel T229G (Cys77Gly) mutation in two affecteds of one kindred. Three of the affected individuals were younger than 10 years at the onset of MCKD2/FJHN. Symptoms include recurrent urinary tract infections compatible with the published phenotype of the Umod knockout mouse model. This emphasizes that MCKD2 is not just a disease of the young adult but is also relevant for children.

Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.

Changes in locomotor and foraging skills in captive-born, reintroduced golden lion tamarins (Leontopithecus rosalia rosalia).

The behavior of reintroduced, captive-born animals is understudied, limiting the scientific understanding and utility of reintroduction as a conservation tool. This work describes changes in locomotor and foraging behaviors in captive-born golden lion tamarins over the first 18 months after their release into the wild. The subjects included 73 individuals living in and around the Poco das Antas Biological Reserve in Brazil between 1984 and 1996. The differences between animals that survived 6 months after release and those that did not indicate that initial deficiencies in locomotor and foraging abilities are related to survival. Behavioral changes in both juvenile and adult individuals during the first 6 and 18 months after release appear to be primarily related to locomotor abilities; however, the effect of provisioning on foraging abilities is unknown. Juvenile animals showed a larger number of changes relative to adults during the first 6 and 18 months, suggesting that placing tamarins into complex environments early in development may promote the expression of natural behaviors and increase survival opportunities after their release. However, when this is not possible, the best mechanism for reintroducing adult members of this species involves intensive post-release support rather than pre-release training, which confers few behavioral advantages. Recommendations for future reintroductions with this and other species include introducing animals to complex environments early in development, and collecting data systematically.

Spontaneous use of magnitude discrimination and ordination by the orangutan (Pongo pygmaeus).

The ability to discriminate quantity is descriptive of general cognitive ability. In this study, the authors presented 2 orangutans (Pongo pygmaeus) with a quantity judgment task. Each trial consisted of 2 choices, ranging from 1 to 6 food items in each. The orangutan chose 1 of the quantities, which was removed, and the remaining array was given as a reward. In contrast to chimpanzees previously tested on the same task (S. T. Boysen & G. G. Berntson, 1995; S. T. Boysen, G. G. Berntson, M. B. Hannan, & J. T. Cacioppo, 1996; S. T. Boysen, K. L. Mukobi, & G. G. Berntson, 1999), the orangutans optimized their performance. Orangutans, therefore, attend to differences in magnitude and can spontaneously use ordinality. Results also suggest a cognitive difference between chimpanzees and orangutans.

Food transfers in wild and reintroduced golden lion tamarins, Leontopithecus rosalia.

We collected data from wild and reintroduced golden lion tamarins (Leontopithecus rosalia) to describe the behavior of donor and recipient during food transfers, evaluate the effect of supplemental feeding on food transfer behavior, and examine various hypotheses concerning the function of food transfers in primates. Behavioral observations were conducted on 12 groups of tamarins with young (N = 30) between the ages of 1 week and 1 year old. Results show that food transfers involve various behaviors, from steals by recipients to offers by donors; transfers mostly derive from adults and are directed at immature weaned young (between 3 and 9 months old); and that most items transferred were prey or fruits that require skill to process. Eleven percent of food transfers were preceded by an adult vocalization specific to that context, whereas 86% were preceded by conspicuous infant vocalizations and begging behavior. The most common vocalizations were loud and atonal (rasps) and broad banded frequency modulated (trills). Infants born to reintroduced parents vocalized less, whereas reintroduced adults vocalized more before transferring food than their wild counterparts. Reintroduced adults and young received more food transfers (4.4 per hr) than did wild-born adults and young (2.2 per hr). Our findings suggest that food transfer in golden lion tamarins is best understood as provisioning of young that have not fully developed foraging skills to ensure they get the necessary resources for growth and survival.

Coagulation properties of fresh-frozin canine plasma during prolonged storage.

Coagulation properties of fresh platelet-poor canine plasma from 20 dogs were examined before freezing and after storage at intervals of up to 1 year. Prothrombin time and factor V activity did not change in frozen plasma when compared with data obtained after plasma was stored 1 week. When compared with that of fresh plasma, activated partial thromboplastin time shortened and factor VIII activity decreased after freezing and thawing of fresh plasma after 1 week, activated partial thromboplastin time in fresh-frozen plasma gradually shortened during the year of storage. Factor viii activity increased in the first 4 months of storage, but gradually decreased by 1 year.

Cooperative tool use by captive hamadryas baboons.

A bonded pair of hamadryas baboons developed cooperative tool use without training. The male could get food with the tool but first had to get the tool from an adjoining cage which he could not enter. The female learned to give him the tool. Cooperation was temporarily disrupted by the terminal phase of the female's estrous inflation.