exudates and Jaundice

It is known that alpha1-antitrypsin deficiency is associated with emphysema in adults and liver cirrhosis in neonates. The phenotypes PiZZ and PiSZ are considered to be high risk groups. alpha1-antitrypsin deficiency is one of the most common lethal congenital disorders in Europe and the USA, occurring in approximately 1 in 2,000 caucasians of North European descent. Studies in Malaysia have found that the phenotypes PiZ and PiS are present in our population. Out of 950 samples analyzed, it was found that 10 samples were shown to be apparently Z homozygous phenotype. The phenotype is determined by high resolution isoelectrofocusing on an ultra-thin polyacrylamide gel embedded with narrow range Pi phamarlyte. The isoelectrofocused bands are confirmed by immunofixation and the plasma alpha1-antitrypsin levels determined by electroimmunoassay. The abnormal phenotypes are further confirmed by polymerase chain reaction using allele specific oligonucleotides.

Topics: Adult; Aged; alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Child, Preschool; Emphysema; Europe; Genes, Lethal; Genetic Variation; Genotype; Humans; Infant; Infant, Newborn; Jaundice; Liver Cirrhosis; Malaysia; Middle Aged; Polymerase Chain Reaction; United States

A study of 1,437 unselected febrile patients in rural Malaysia yielded a diagnosis of leptospirosis in 86 (6.0%). The clinical syndrome was mild to moderate in all cases, jaundice was observed in only 2 (2.3%) and no deaths were documented. The diagnosis was not clinically obvious in most cases, and it is apparent that many infections must be going unnoticed at present.

Topics: Fever; Headache; Humans; Jaundice; Leptospirosis; Malaysia

Topics: Anemia, Hemolytic, Congenital; Ankyrins; beta-Thalassemia; Diagnosis, Differential; Erythroblasts; Humans; Jaundice; Jaundice, Obstructive; Malaysia; Spherocytosis, Hereditary