[Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review].

This article focuses on a case study of sitosterolemia in a child who initially presented with hemolytic anemia and thrombocytopenia. Sitosterolemia is a rare autosomal recessive lipid metabolism disorder, difficult to diagnose due to its non-typical clinical manifestations. The 8-year-old patient was initially misdiagnosed with pyruvate kinase deficiency. Comprehensive biochemical and molecular biology analyses, including gene sequencing, eventually led to the correct diagnosis of sitosterolemia. This case highlights the complexity and diagnostic challenges of sitosterolemia, emphasizing the need for increased awareness and accurate diagnosis in patients presenting with similar symptoms.

[Application of systematic etiological analysis in final and differential diagnosis of hereditary hemolytic anemia].

OBJECTIVE: Study on the application of the systematic analysis strategies of etiology in final and differential diagnosis of hereditary hemolytic anemia (HHA). METHODS: Analysis of 1 506 patients with suspected hemolytic anemia (HA) in systematic hemolytic etiological analysis. RESULTS: ①1 413(94%) of the total 1 506 patients [male 799, female 707, median age 22-year-old (4 days to 86-year-old) ]were caused by membranopathy, hemoglobinopathy and enzymopathy, documented the three major causes of HHA. 369 cases (26%) of the 1 413 patients showed complex type of HA, which had the coexistence of two or more hereditary defects concerning HA in red cells, the other 1 044 cases (74%) were HA with single hemolytic cause. ②In 1 044 cases of single HA, hemoglobinopathy, membranopathy and enzymopathy was 22%, 63% and 15%, respectively. When single HA plused complex HA, the hemoglobinopathy, membranopathy and enzymopathy was 29%, 57% and 14% respectively. The difference was not statistically significant (P >0.05). ③ The most common double heterozygosis with different genetic defects was hemoglobinopathy complicated with membranopathy (50%, 184/369). The complex HA was also found in patients with the enzymopathy complicated with membranopathy (18%, 66/369) and with hemoglobinopathy (4%, 13/369). Some of complex HA patients had the same kinds of genetic defects which means double hemoglobinopathies (29 cases, 8% ), membranopathies (57 cases, 15% ) and enzymopathies (9 cases, 2%). Other kinds (11 cases, 3%) of complex HA, anemia and jaundice were seen in HAA patients accompanied with acquired and secondary defects or other system abnormalities. CONCLUSION: The parallel etiologic examination of three major genetic hemolytic diseases can be 94% of patients for classification. The results showed that the first cause of HAA was membranopathy, second hemoglobinopathy and then enzymopathy. Complex hemolysis is not uncommon and single factor analysis alone is not enough to provide scientific basis for diagnosis.

[The increase in endocytosis of mouse skeletal muscle after denervation and the proliferation of satellite cells].

The relationship between increase of endocytosis and proliferation of satellite cells in mouse skeletal muscle was studied by biochemical and culture methods in vitro. The results indicated that: (1) 4 d or 6 d after denervation, increase of endocytosis and proliferation of satellite cells in denervated muscle were induced. (2) Actinomycin D inhibited activation of satellite cells and endocytosis in normal muscle. (3) While in denervated muscle, actinomycin D inhibited proliferation of satellite cells as well as increase of endocytosis, but could not prevent muscle atrophy after denervation. These results imply that proliferation of satellite cells and increase of endocytosis in the muscle may concur to the appearance of some factors after denervation, or increase in endocytosis is a mere result of proliferation of satellite cells.