An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.

ABSTRACT: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare mitochondrial disease characterized by lipid oxidation disorder. It is an autosomal recessive disease induced by a mutation in the HADHA gene, which encodes the LCHAD deficiency. The clinical manifestations of this disease are diverse, primarily affecting the heart, liver, and skeletal muscles. Common symptoms include cardiomyopathy, peripheral neuropathy, retinopathy, and even lead to death in severe cases.Herein, we report a patient who was hospitalized due to flatulence, crying, irritability, and died of acute cardiopulmonary failure after 8 days in hospital. An autopsy was performed to determine the cause of death. Clinical examination revealed abnormal liver and kidney function, and the genetic metabolic disease profile indicated significantly elevated levels of long-chain acyl-carnitine and long-chain 3-OH-acyl-carnitine. Histopathological examination revealed diffuse hepatic steatosis, and the genetic sequencing results detected compound heterozygous mutations in the HADHA gene (c.1528G>C [p.E510Q] and c.703_704dupCG [p.T236Gfs*3]). Of note, the mother had a history of acute fatty liver during pregnancy. Collectively, our study may contribute to understanding the HADHA gene mutation profile and the clinical phenotype of LCHAD deficiency, emphasizing the importance of genetic testing in forensic pathology.

Relationships between Diatom Abundances in Rat Organs and in Environmental Waters.

OBJECTIVE: A diagnosis of drowning remains one of the most challenging issues in forensic science, especially for decomposed bodies. Diatom analysis is considered as an encouraging method for diagnosing drowning. In this study, we developed a drowned rat model using different diatom densities in water. METHODS: A total of 120 adult Sprague-Dawley rats were used and divided into six groups, wherein experimental groups 1-5 were drowned rats (group A) and postmortem submersion rats (group B) that were submerged in water with five different Cyclotella sp. diatom densities, while the remaining group was used as a blank control. The combination of microwave digestion and vacuum filtration method was used to accomplish efficient tissue digestion and ascertain higher accuracy of diatom determinations within organs. RESULTS: The abundances of diatoms in the lungs, livers, and kidneys were significantly different. The diatom abundances in the lungs, livers, and kidneys were directly proportional to the water diatom densities, and specific quantitative relationships could be approximated by separate regression equations for each organ type. However, the trends associated with the diatom increases among organs slightly differed. In addition, the diatom abundances in the lungs, livers, and kidneys were all positively correlated. Diatoms were not observed in the postmortem submersion groups nor in the blank control groups. CONCLUSION: The results of this study provide valuable information for establishing a quantitative diatom framework for informing future forensic medicine efforts.