Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation.

After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses.

Review of laboratory and necropsy evidence for iron storage disease acquired by browser rhinoceroses.

Necropsies of two browser rhinoceroses, African black (Diceros bicornis) and Sumatran (Dicerorhinus sumatrensis), often reveal extensive iron-pigment deposition in various tissues. This condition (hemosiderosis) has not been observed in species that are natural grazers, African white (Ceratotherium simum) and Asian greater one-horned (Indian; Rhinoceros unicornis), nor in any species free ranging in the wild. The causes, clinical significance, and consequences of captivity-acquired hemosiderosis have remained controversial despite two decades of compelling evidence that iron tends to accumulate logarithmically in all members of affected species in proportion to periods of expatriation; total-body iron loads can reach 10-fold in less than 3 yr and eventually exceed reference ranges by two to three orders of magnitude; iron overburdens are accompanied by laboratory and histopathologic evidence of cellular injury, necrosis and other clinical consequences characteristic of chronic pathologic iron storage [corrected] disorders (ISD) in humans and other species (hemochromatosis); and that ISD develops in many other exotic wildlife species displaced from their natural habitats.

Browse diversity and iron loading in captive sumatran rhinoceroses (Dicerorhinus sumatrensis): a comparison of sanctuary and zoological populations.

Iron storage disease (ISD) is now recognized as a serious clinical disorder acquired by two species of browsing rhinoceroses, the African black (Diceros bicornis) and the Asian Sumatran (Dicerorhinus sumatrensis) rhinoceroses, when displaced from their natural habitats. The most complete knowledge of ISD comes from studies of the black rhinoceros, but the Asian species is also at risk. Sumatran rhinoceroses housed in traditional zoological settings outside of range countries have suffered significant morbidity and mortality potentially related to ISD induced by diet and/or other confinement conditions.

Iron storage disorders in captive wild mammals: the comparative evidence.

Excessive burden of iron, or iron storage disease (ISD), has been reported in a large variety of captive mammal species, including browsing rhinoceroses; tapirs; fruit bats; lemurs; marmosets and some other primates; sugar gliders; hyraxes; some rodents and lagomorphs; dolphins; and some carnivores; including procyonids and pinnipeds. This report collates the comparative evidence for species' susceptibility, recognizing that the data for mammal species are limited. Differences reported in the occurrence of ISD between facilities, or within facilities over periods that span management changes, have been reported in individual cases but are underused in ISD research.

Atypical hematological response to combined calorie restriction and chronic hypoxia in Biosphere 2 crew: a possible link to latent features of hibernation capacity.

Eight humans were isolated for 2 years in Biosphere 2, a sealed airtight habitat with recycled air, food, water, and wastes. A combination of conditions led to selective decline of oxygen (O2) in the internal atmosphere from 21% to 14%, inducing symptoms of high-altitude sickness but with little or no compensatory increase in red cell production. All crew members exhibited significant decreases in both erythrocyte 2,3-bisphosphoglycerate (2,3-BPG) concentrations and P50 [partial pressure of O2 for 50% hemoglobin (Hb) saturation] values, changes opposite those expected in adaptation to high-altitude hypoxia.

Hypertension and cerebral hemorrhage: a malpractice controversy. Efficacy of drug therapy, epidemiology, neurological aspects and pathology.

The plaintiff alleged that failure of the attending physician to manage her husband's hypertension properly resulted in his death from intracerebral hemorrhage. Four lines of evidence supported the defendant: (1) In 1970 to 1971 there was uncertainty in the medical community whether mild hypertension should be treated with drugs; this uncertainty still existed at the time of the trial. (2) Severe hypertension and advanced age are the two most important predisposing factors leading to intracerebral hemorrhage; the deceased patient had neither.