Bridging the gap: understanding contemporary autopsies in acute leukemia by comparing ante-mortem and post-mortem profiles.

This study investigates acute myeloid leukemia/lymphoblastic leukemia (AML/ALL) through a 14-year analysis (2009-2022) of 46 autopsied cases (age >12 years). B-ALL was the dominant subtype (34.8%). Liver and spleen were the common sites of active leukemia (63% cases). Symptoms like dyspnea and altered sensorium associated significantly with heart (p = .031) and brain leukostasis (p = .006). Measurable residual disease (MRD) negativity correlated with disease-free status outside the bone marrow, while MRD-positive cases displayed leukemic infiltrates. Infections were identified in 23 autopsied cases, notably linked to post-induction and post-transplant fatalities. Surprisingly, 18 of these 23 cases had unexpected infections mainly fungal (13 cases) with Aspergillus species as the most common. Diagnostic discrepancies were identified in 48% of cases. Malignant infiltration (46%) and infections (25%) were the leading causes of death. This research sheds light on leukemia in extra-medullary tissues, uncovers novel clinical-pathological associations, and highlights overlooked therapy side effects, offering insights for future case management.

Histopathological impact of SARS-CoV-2 on the liver: Cellular damage and long-term complications.

Coronavirus disease 2019 (COVID-19), caused by the highly pathogenic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), primarily impacts the respiratory tract and can lead to severe outcomes such as acute respiratory distress syndrome, multiple organ failure, and death. Despite extensive studies on the pathogenicity of SARS-CoV-2, its impact on the hepatobiliary system remains unclear. While liver injury is commonly indicated by reduced albumin and elevated bilirubin and transaminase levels, the exact source of this damage is not fully understood. Proposed mechanisms for injury include direct cytotoxicity, collateral damage from inflammation, drug-induced liver injury, and ischemia/hypoxia. However, evidence often relies on blood tests with liver enzyme abnormalities. In this comprehensive review, we focused solely on the different histopathological manifestations of liver injury in COVID-19 patients, drawing from liver biopsies, complete autopsies, and in vitro liver analyses. We present evidence of the direct impact of SARS-CoV-2 on the liver, substantiated by in vitro observations of viral entry mechanisms and the actual presence of viral particles in liver samples resulting in a variety of cellular changes, including mitochondrial swelling, endoplasmic reticulum dilatation, and hepatocyte apoptosis. Additionally, we describe the diverse liver pathology observed during COVID-19 infection, encompassing necrosis, steatosis, cholestasis, and lobular inflammation. We also discuss the emergence of long-term complications, notably COVID-19-related secondary sclerosing cholangitis. Recognizing the histopathological liver changes occurring during COVID-19 infection is pivotal for improving patient recovery and guiding decision-making.

Profile of Mortal Injuries in Vehicular Accidents: An Autopsy-Based Study.

Background It is crucial to analyze the trends of fatal injuries among pedestrians, passengers, motorcycle riders, and drivers of three- and four-wheelers in traffic accidents. Objective To ascertain the trend of fatal injuries to the head, chest, and abdomen across different victim categories in vehicular accidents. Materials and methods An autopsy-based prospective study was carried out in the mortuary of a rural tertiary care hospital. A total of 108 fatal cases of vehicular accidents were taken into consideration. All natural and unnatural deaths, other than those stemming from vehicle crashes, were excluded from this study; only the victims of fatal vehicular accidents were included. Results Males outnumbered female victims by 8.8:1. The age range of 41-60 years was the most affected (38.9%). The greatest number of victims (17, or 15.8%) were male motorcycle riders in the range of 21-40 years. Most vehicular mishaps (61; 56.5%) occurred during the evening. The most frequent injury pattern reported was head injuries (53.4%). Conclusions Motorcycle riders constituted the most severely injured victim category in a vehicular accident. Most mishaps occurred in the dark because of inadequate lighting or bad road conditions in rural areas. Furthermore, the most frequently occurring type of injury was an injury to the head, which may be an outcome of riders' lack of compliance with the mandatory helmet-use policy.

Immunohistochemical Diagnosis of Amyloid Typing: Utility and Limitations as Determined by Liquid Chromatography-Tandem Mass Spectrometry.

BACKGROUND: Although immunohistochemical techniques and proteomic analysis are widely used for typing diagnosis of amyloidosis, the diagnostic utility of immunohistochemical evaluation is not well understood. METHODS: We used immunohistochemical techniques to characterize staining patterns of in-house rabbit polyclonal anti-κ, anti-λ, anti-transthyretin antibodies, and commercial anti-amyloid A and anti-ß2-microglobulin antibodies in 40 autopsy cases. RESULTS: In thirty cases (75%), the subtype was determined by using the criterion that amyloid is strongly and diffusely positive for one antibody while negative for other antibodies. We then performed proteomic analysis of all 40 cases. In 39 cases, we identified only one amyloid protein and confirmed the immunohistochemically determined subtypes of the abovementioned 30 cases. In seven other cases, we could retrospectively determine subtypes with immunohistochemistry by using information from proteomic analysis, which increased the immunohistochemistry diagnosis rate to 92.5% (37/40). In one case, we identified double subtypes, both immunohistochemically and with proteomic analysis. In the remaining three cases, proteomic analysis was essential for typing diagnosis. CONCLUSIONS: The present findings suggest that combined immunohistochemistry and proteomic analysis is more useful than immunohistochemistry alone. Our findings highlight the importance of carefully interpreting immunohistochemistry for anti-TTR and light chain and offer insights that can guide amyloid typing through immunohistochemistry.

Death following cylindrical battery ingestion associated with toxic manganese levels.

Cases of battery ingestion are well documented in the scientific literature, especially concerning button cell battery ingestion in children. In this instance, the authors present an atypical case of a young man who voluntarily ingested a cylindrical alkaline battery containing manganese. The patient died approximately a week later, despite not exhibiting any specific symptoms. The battery was found in the cecum during the autopsy, showing deterioration at its positive pole. The cecal mucosa exhibited two ulcerations without perforation. Histological analysis revealed intestinal ischemia in the cecum, with no microscopic lesions in other organs. Toxicology reports indicated high levels of manganese in both cardiac and peripheral blood. Considering all the results from the additional analyses, the experts concluded that the death was likely of multifactorial origin, associated with a toxic blood concentration of manganese. To the best of our knowledge, this is the first recorded death following the ingestion of a cylindrical battery, and the first instance of manganese intoxication resulting from the ingestion of an alkaline battery. The authors will present the case and provide a literature review to assess the extent to which the presence of manganese may have contributed to the fatality.

Selective postmortem arterial angiography of head and neck using digital x-ray or computed tomography: A practical and rapid method to identify vascular injuries.

Identification of vascular injuries is crucial for complete postmortem evaluation and understanding of trauma deaths by the Medical Examiner. Some vascular injuries are difficult to evaluate due to challenging anatomic locations, especially in the head and neck. Documenting injuries of the facial and vertebral arteries is challenging and necessitates time-consuming dissections that can create artifacts and disfigurement. In busy medical examiner offices with a significant number of traumatic injuries, finding a creative solution to employ reliable postmortem angiography is desirable. At the Office of the Chief Medical Examiner for the State of Maryland (OCME), we created and effectively implemented a selective angiography procedure using traditional indwelling Foley catheters and water-soluble barium swallow contrast to evaluate arterial injuries using either digital radiography or computed tomography imaging modalities. This technique and imaging interpretation can be performed by a medical examiner or forensic pathology fellow after basic technical training and basic radiology training. This study outlines the technique, methods, and utilization of the procedure and describes the findings of six deaths due to vascular lesions from different injury mechanisms and disease processes and describes the ease of implementation on a broader scale in busy Medical Examiner's offices.

Streptococcal Toxic Shock Syndrome with Multiple Cerebral Infarctions Caused by Streptococcus dysgalactiae subsp. equisimilis: An Autopsy Case Report.

We herein report an autopsy case of streptococcal toxic shock syndrome with disseminated intravascular coagulation and multiple cerebral infarctions induced by Streptococcus dysgalactiae subsp. equisimilis (STSS) in an 84-year-old male. Pathological examination revealed sepsis with hemophagocytosis in the reticular system and intravascular bacteria in multiple organs, originating from bacterial necrotizing fasciitis of the lower extremities. The brain MRI findings showed a DWI-FLAIR mismatch, whereas the pathology was almost normal, thus supporting a hyperacute phase of cerebral infarction. The findings in this case help to elucidate the pathogenesis of STSS and develop appropriate treatment strategies.

Single-camera photogrammetry using a mobile phone for low-cost documentation of corpses.

Photogrammetry is a technique for studying and defining objects' shape, dimension, and position in a three-dimensional space using measurements obtained from two-dimensional photographs. It has gained popularity following the development of computer graphics technologies and has been applied to various branches of medicine. In this study, the authors present a method for low-cost photorealistic documentation of corpses during autopsy using single-camera photogrammetry with a mobile phone. Besides representing the body by demonstrating the injured and non-injured body parts as control, evidencing the body parts on a 3D reconstruction allows easy explanation to nonmedical experts such as lawyers.

Forensic Assessment of Alcohol Intoxication in Cases of Fatal Road Traffic Accidents in Lithuania.

Background: There is strong evidence that alcohol consumption is a significant risk factor for fatal road traffic accidents. It is estimated that the number of alcohol-related road accidents remains high in the past few years in Lithuania. This study aims to examine the prevalence of alcohol in blood samples collected from the autopsy results of road traffic accident victims. Materials and methods: A retrospective study of 136 road traffic accident victims was performed in State Forensic Medicine Service of Lithuania in the period of 2013 to 2023. We analyzed blood alcohol concentration (BAC) in relation to sex, age, road user type, place and time of the day at death. Results: 31% of the victims were under influence of alcohol at the time of death, with mean BAC 1.99 ± 0.92‰. The mean BAC was 2.16 ± 0.8‰ in male and 1.18 ± 1.12‰ in female group. By the type of road users, 23% of the pedestrians (mean BAC 2.45 ± 0.71‰), 32% of car drivers (mean BAC 2.13 ± 0.75‰), 41% of vehicle passengers (mean BAC of 1.73 ± 1.19‰), 37% of the motorcycle riders (mean BAC of 1.28 ± 0.53‰), 37% of the cyclists (mean BAC of 1.15 ± 0.75‰) were found to be intoxicated during the time of accident. Highest mean blood alcohol concentration was found during the night time hours (9 p. m. - 5 a. m.) 2.28 ± 0.91, comparing to in afternoon hours (12 p. m. - 5 p. m.) 1.49 ± 0.99, evening hours (5 p. m. - 9 p. m.) 2.10 ± 0.73 and morning hours (5 a. m. - 12 p. m.) 1.94 ± 1.00. The mean BAC in road traffic accidents during summer was 1.48 ± 0.71‰, spring 2.25 ± 0.76‰, autumn 2.12 ± 1‰, winter 2.42 ± 1‰. Conclusions: Alcohol consumption by road users is a significant contributing factor in road traffic accidents and their outcomes in Lithuania.

Deaths during Sexual Activity.

Background: Deaths during sexual activities are rarely identified phenomena in forensic medicine practice. Most often, such deaths are classified as accidents or deaths due to the manifestation of certain diseases during sexual activity. It is important to rule out homicide or suicide as the cause of death when investigating sexual deaths. Determining the cause of death requires a comprehensive assessment of the evidence and circumstances and should not be based solely on autopsy findings. When determining the cause of death, it is necessary to evaluate the circumstances of the discovery, important evidence found near the body, the position of the deceased, the place where the deceased was found, and the characteristics of the environment. Cases: Case 1: A 65-year-old male was clothed in women's underwear and was found hanging in a noose in a bedroom after a house fire. The autopsy revealed a ligature mark on the neck, bruises in neck muscles, tears in carotid arteries, and signs of acute pulmonary distension. The cause of death was determined to be suffocation due to neck compression by a ligature, compounded by significant alcohol intoxication, with additional postmortem burns covering 30% of the body surface area likely occurring after death.Case 2: A 55-year-old naked male was found without external injuries but with a plastic tube inserted into the rectum, causing a 2.5 cm rupture in the ileum. The perforation led to complications, including purulent diffuse peritonitis, intoxication, and acute cardiac and respiratory failure, resulting in death within 3-6 hours after insertion. Concurrent findings included atherosclerotic changes in the heart, internal organ hyperemia and edema, hepatic steatosis, renal cyst, and a lack of ethyl alcohol in blood but 0.17 ‰ presence in urine according to toxicology analysis. Conclusions: A detailed evaluation of all the evidence is very important in the forensic examination of the deceased during sexual activity. Therefore, to determine the cause of death, not only the autopsy data, toxicological and microscopic examinations of the deceased are important, but also the evaluation of all findings at the scene. The most common cause of death of an autoerotic nature is asphyxia, and the most commonly identified group of the dead are men aged around 40 years.

Malaria Tropica: An Autopsy Case Report With a Discussion on the Presence of Malaria in Bulgaria.

Malaria is an infectious disease caused by several types of parasitic plasmodia and transmitted to humans through Anopheles mosquitoes. The disease has long been widespread and has caused a significant number of deaths and decreased life quality from sequelae worldwide. As understanding of the disease increased immensely at the beginning of the 20th century, eradication plans were implemented to decrease disease transmission. This led to the successful eradication of malaria across predominantly industrialized countries, with multiple geographic areas remaining malaria endemic zones to this day. With climate changes and migration, the risk of reintroduction of malaria to malaria-free zones has risen due to relatively easy travel to endemic zones and importation of cases. On the one hand, this is a significant public health risk and, on the other, a challenge to the medical system, as healthcare workers in malaria-free zones are often ill-prepared to recognize, diagnose, and treat malaria cases. Herein, we present an autopsy and histopathology case report of tropical (falciparum) malaria, complicated with blackwater fever (malignant malaria) with prevalent gross and histopathological changes, including hemomelanin deposition in the spline, liver, and bone marrow; visible parasitic forms in the remaining red blood cells; Durk's granulomas, sludge, and petechial hemorrhages in the central nervous system; and hemoglobin casts within the renal tubular structures. We also discuss the history and risk of reintroducing malaria into a malaria-free zone - Bulgaria.

Vascular Calcification Is Accelerated by Hyponatremia and Low Osmolality.

BACKGROUND: Hyponatremia, frequently observed in patients with chronic kidney disease, is associated with increased cardiovascular morbidity and mortality. Hyponatremia or low osmolality induces oxidative stress and cell death, both of which accelerate vascular calcification (VC), a critical phenotype in patients with chronic kidney disease. Whether hyponatremia or low osmolality plays a role in the pathogenesis of VC is unknown. METHODS: Human vascular smooth muscle cells (VSMCs) and mouse aortic rings were cultured in various osmotic conditions and calcifying medium supplemented with high calcium and phosphate. The effects of low osmolality on phenotypic change and oxidative stress in the cultured VSMCs were examined. Microarray analysis was conducted to determine the main signaling pathway of osmolality-related VC. The transcellular sodium and calcium ions flux across the VSMCs were visualized by live imaging. Furthermore, the effect of osmolality on calciprotein particles (CPPs) was investigated. Associations between arterial intimal calcification and hyponatremia or low osmolality were examined by a cross-sectional study using human autopsy specimens obtained in the Hisayama Study. RESULTS: Low osmolality exacerbated calcification of the ECM (extracellular matrix) of cultured VSMCs and mouse aortic rings. Oxidative stress and osteogenic differentiation of VSMCs were identified as the underlying mechanisms responsible for low osmolality-induced VC. Microarray analysis showed that low osmolality activated the Rac1 (Ras-related C3 botulinum toxin substrate 1)-Akt pathway and reduced NCX1 (Na-Ca exchanger 1) expression. Live imaging showed synchronic calcium ion efflux and sodium ion influx via NCX1 when extracellular sodium ion concentrations were increased. An NCX1 inhibitor promoted calcifying media-induced VC by reducing calcium ion efflux. Furthermore, low osmolality accelerated the generation and maturation steps of CPPs. The cross-sectional study of human autopsy specimens showed that hyponatremia and low osmolality were associated with a greater area of arterial intimal calcification. CONCLUSIONS: Hyponatremia and low osmolality promote VC through multiple cellular processes, including the Rac1-Akt pathway activation.

Synergy Between NK Cells and Monocytes in Potentiating Cardiovascular Disease Risk in Severe COVID-19.

BACKGROUND: Evidence suggests that COVID-19 predisposes to cardiovascular diseases (CVDs). While monocytes/macrophages play a central role in the immunopathogenesis of atherosclerosis, less is known about their immunopathogenic mechanisms that lead to CVDs during COVID-19. Natural killer (NK) cells, which play an intermediary role during pathologies like atherosclerosis, are dysregulated during COVID-19. Here, we sought to investigate altered immune cells and their associations with CVD risk during severe COVID-19. METHODS: We measured plasma biomarkers of CVDs and determined phenotypes of circulating immune subsets using spectral flow cytometry. We compared these between patients with severe COVID-19 (severe, n=31), those who recovered from severe COVID-19 (recovered, n=29), and SARS-CoV-2-uninfected controls (controls, n=17). In vivo observations were supported using in vitro assays to highlight possible mechanistic links between dysregulated immune subsets and biomarkers during and after COVID-19. We performed multidimensional analyses of published single-cell transcriptome data of monocytes and NK cells during severe COVID-19 to substantiate in vivo findings. RESULTS: During severe COVID-19, we observed alterations in cardiometabolic biomarkers including oxidized-low-density lipoprotein, which showed decreased levels in severe and recovered groups. Severe patients exhibited dysregulated monocyte subsets, including increased frequencies of proinflammatory intermediate monocytes (also observed in the recovered) and decreased nonclassical monocytes. All identified NK-cell subsets in the severe COVID-19 group displayed increased expression of activation and tissue-resident markers, such as CD69. We observed significant correlations between altered immune subsets and plasma oxidized-low-density lipoprotein levels. In vitro assays revealed increased uptake of oxidized-low-density lipoprotein into monocyte-derived macrophages in the presence of NK cells activated by plasma of patients with severe COVID-19. Transcriptome analyses confirmed enriched proinflammatory responses and lipid dysregulation associated with epigenetic modifications in monocytes and NK cells during severe COVID-19. CONCLUSIONS: Our study provides new insights into the involvement of monocytes and NK cells in the increased CVD risk observed during and after COVID-19.

Minimally invasive autopsy - endoscopic approach to post-mortem diagnostics.

The noticeable decline in the number of autopsies performed in recent years requires investigation into the causes of the phenomenon and attempts to prevent it. One potential cause of this trend is fear of disfiguring the body. Carrying out autopsies using a minimally invasive method may reduce the decrease in the number of autopsies performed. The first work on the development of the method and its continuation gave promising results. This allows us to start a discussion on attempts to introduce the method. The solution seems especially justified when the alternative is to completely abandon post-mortem examinations using the traditional method. Laparoscopy and thoracoscopy are tools that allow for accurate imaging and analysis of organ changes. Enriching them with additional tests using endoscopic techniques may have a positive impact on the accuracy of autopsy diagnoses. The development of a clear protocol for minimally invasive post-mortem diagnosis requires further research to determine the accuracy of the method.

Molecular autopsy in Chinese sudden cardiac death in the young.

Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking. The 5-year result (2017-2021) of molecular autopsy services provided for victims of SCDY (age 1-40 years) was reviewed. The outcome of family cascade genetic screening and clinical evaluation was reviewed. A literature review of case series reporting results of molecular autopsy on SCDY in 2016-2023 was conducted. Among the 41 decedents, 11 were found to carry 13 sudden cardiac death (SCD)-causative genetic variants. Likely pathogenic (LP) variants were identified in the DSP, TPM1, TTN, and SCN5A genes. Cascade genetic testing identified four family members with LP variants. One family member with familial TPM1 variant was found to have hypertrophic cardiomyopathy upon clinical evaluation. This study provided insight into the genetic profile of molecular autopsy in a Chinese cohort of SCDY. The detection of important SCD-causative variants through molecular autopsy has facilitated family cascade screening by targeted genetic testing and clinical evaluation of at-risk family members. A literature review of the current landscape of molecular autopsy in the investigation of SCDY was conducted.

Prominent black esophagus, Wischnewsky spots, and black duodenum in a fatal hypothermia case with an underlying diabetic ketoacidosis.

Hypothermia can occur in patients with diabetic ketoacidosis (DKA), and these two conditions can exacerbate each other. Fatal hypothermia and DKA have overlapping features and findings such as Wischnewsky spots (WS), black esophagus, basal subnuclear vacuolization in the renal tubule, dehydration, and increased acetone levels. Therefore, it may be challenging to differentiate or clarify the context of these two conditions. Herein, we report a case of a 49-year-old man with type 1 diabetes who was found lying in his house in mid-winter. He experienced cardiopulmonary arrest 10 h after the initial discovery and died at the hospital. On autopsy, florid left cardiac blood was observed. Black discoloration of the distal part of the esophageal mucosa, widespread WS in the gastric mucosa, and black discoloration of the duodenal mucosa were observed. Histologically, neutrophil infiltration in the esophageal mucosa, neutrophil infiltration and bleeding in the gastric mucosa, basal subnuclear vacuolization and Armanni-Ebstein lesion in the renal tubule epithelium in the kidney, and hyalinization of the islets of Langerhans were observed in the pancreas. Blood acetone and ß-hydroxybutyrate levels were 538 µg/mL and 8947 µmol/L, respectively. Glycated hemoglobin A1c and glucose levels were 16.2% and 883 mg/dL, respectively, while C-reactive protein level was 3.64 mg/dL. In conclusion, obnubilation due to DKA was assumed to be the underlying cause of hypothermia, and the combination of these two conditions led to the outcome of death. The concurrent presence of these conditions likely contributed to the conspicuous mucosal findings in the upper gastrointestinal tract.

Child and adolescent victims of sexual homicide in Chile between 1998 and 2021: A review of 27 cases and their autopsy reports.

Rape followed by murder against children and adolescents is one of the most serious existing crimes. The autopsies of victims of violent crimes can provide fundamental findings for the investigative process and the pursuit of justice. This research conducts a descriptive analysis of the most important findings from the autopsies of 27 cases of children and adolescents who died in Chile between 1998 and 2021 as a result of rape followed by homicide (n = 27), as well as from the judiciary rulings of these cases to gather information related to the perpetrators. It was found that the victims of this crime are mostly girls with an average age of 10, while the perpetrators are primarily single men aged 29 on average, most of whom have not finished high school. A significant relationship was found between the location of the crime and the cause of death and signs of sexual contact, the marital status of the perpetrator and the cause of death, the age of the perpetrator and signs of sexual contact, and the relationship between victim and perpetrator and signs of sexual contact.

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

Background: Rare genetic disorders may result in death before a definitive clinical diagnosis is established. Aim: This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders. Results: Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window. Conclusion: Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis postmortem, by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.

Autopsy findings in a rare case of pleomorphic carcinoma in a patient on dialysis.

Pleomorphic lung cancer is a very rare type of cancer and very few cases have been reported in the literature. We present a case of pleomorphic lung cancer in a patient with history of IgA nephropathy on hemodialysis.

Association between serum catecholamine levels and VNTR polymorphism in the promoter region of the monoamine oxidase A gene in forensic autopsy cases.

Monoamine oxidase A (MAOA) catalyzes oxidative deamination of catecholamines. A functional variable number tandem repeat (VNTR) polymorphism in the promoter region of the MAOA gene has been previously reported. In the present study, we measured serum adrenaline (Adr), noradrenaline (Nad), and dopamine (DA) levels in 90 male and 34 female Japanese autopsy cases in which amphetamines or psychotropic drugs were not detected.We examined the frequencies of MAOA-uVNTR alleles in these cases and investigated the effects of the MAOA-uVNTR polymorphism on serum Adr, Nad, and DA levels. Evaluation indicated no significant association between MAOA-uVNTR polymorphism and serum Adr, Nad, or DA levels in males, although a significant association between MAOA-uVNTR polymorphism and serum Adr and DA levels were observed in females. Females with the 3/3 genotype had higher serum Adr and DA levels than those with a 4-repeat allele (3/4 and 4/4 genotypes) (p = 0.048 and 0.020, respectively). There was no significant association between MAOA-uVNTR polymorphism and serum Nad levels in females. The present study indicates that MAOA-uVNTR polymorphism influences serum Adr and DA levels only in females.