The aim of this study was to investigate the apoptosis of nerve cells in the hippocampal and thalamencephalon regions using a rabbit model of ventricular fluid impact. The results for the study demonstrated a variety of pathophysiological changes in the rabbit model, while changes in the hippocampal and thalamencephalon regions were observed under a light microscope following hematoxylin and eosin (H&E)/terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining. Among the mild, moderate and severe injury groups, there were significant differences in the mortality rate and in the changes in vital signs and consciousness recovery time following trauma. Furthermore, H&E staining showed that pathological changes, such as hemorrhage and necrosis, occurred in the hippocampal and thalamencephalon regions at an early stage subsequent to trauma, while TUNEL staining showed that neuronal apoptosis occurred in the various injury groups. In traumatic brain injuries, the impact caused by cerebrospinal fluid moving with a certain energy results in marked damage to the contralateral periventricular structures and may generate a series of pathophysiological changes.
Aldo-keto reductase 1D1 (AKR1D1) deficiency, a rare but life-threatening form of bile acid deficiency, has not been previously described in China. Here, we describe the first two primary ∆4-3-oxosteroid 5β-reductase deficiency patients in Mainland China diagnosed by fast atom bombardment-mass spectroscopy of urinary bile acids and confirmed by genetic analysis. A high proportion of atypical 3-oxo-∆4-bile acids in the urine indicated a deficiency in ∆4-3-oxosteroid 5β-reductase. All of the coding exons and adjacent intronic sequence of the AKR1D1 gene were sequenced using peripheral lymphocyte genomic DNA of two patients and one of the patient's parents. One patient exhibited compound heterozygous mutations: c.396C>A and c.722A>T, while the other was heterozygous for the mutation c.797G>A. Based on these mutations, a diagnosis of primary ∆4-3-oxosteroid 5β-reductase deficiency could be confirmed. With ursodeoxycholic acid treatment and fat-soluble vitamin supplements, liver function tests normalized rapidly, and the degree of hepatomegaly was markedly reduced in both patients.
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.
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