Acta Informatica Medica最新文献

Background: Carbonic Anhydrase II (CA-II) plays a pivotal role in various physiological processes, including maintaining acid-base balance. Its implications in testicular health, especially cryptorchidism, make it an essential focus for researchers. ELISA is widely used to measure biomarker concentrations, with OD serving as a key indicator. Understanding the precision of OD measurements for CA-II can enhance its diagnostic and research applications.

Objective: This study aims to evaluate the relationship between OD and CA-II concentration using linear regression analysis, thereby establishing a quantitative framework for accurate and reproducible CA-II measurements. By validating the OD-to-concentration relationship, this research will aid in developing standardized protocols that can improve diagnostic reliability, enhance monitoring of disease progression, and support therapeutic interventions targeting CA-II.

Methods: Standardized ELISA was employed to determine CA-II concentrations across sample groups, recording OD at specific wavelengths. Data were analyzed for linearity, group differences using ANOVA, and pairwise comparisons via Tukey's HSD test. Correlation analysis was performed to evaluate the relationship between CA-II concentration and OD.

Results: A linear regression model (y=0.3758x+0.1604) demonstrated a nearly perfect R2 value of 0.9957. Statistical tests revealed a strong correlation (0.998) between CA-II concentration and OD values. ANOVA did not indicate significant differences among concentration quartiles; however, the data strongly supported OD's use as a reliable proxy for CA-II measurement.

Conclusion: The established linear relationship between CA-II concentration and OD confirms the accuracy of ELISA in CA-II measurement. This methodology supports future investigations into CA-II's involvement in testicular health, potentially aiding in diagnostics and understanding of conditions such as cryptorchidism.

Background: Spigelian hernia, also known as spontaneous lateral ventral hernia, is defined as a protrusion of abdominal contents through an abdominal wall defect within the transversus aponeurosis. The entity was first reported in 1742 and named after Adrian van der Spieghel. It is recognized as a rare condition, accounting for 1 to 2% of all abdominal wall hernias. Cirrhotic patients, in particular, are more predisposed to hernias of all types. When Spigelian hernia is accompanied by hepatic cirrhosis, the decision to repair gets into a controversial aspect. Herein, we present the emergency management of an incarcerated spigelian hernia in a cirrhotic patient, highlighting the challenges in managing similar cases.

Case presentation: A 65-year-old lady, presented to our emergency department complaining of a left lower quadrant (LLQ) abdominal pain associated with a painful swelling for 9 hours duration. Upon assessment, the patient was jaundiced and haemodynamically stable. Abdominal examination revealed a soft and lax but distended abdomen, with irreducible tender swelling over the LLQ, measuring around 3x2 cm. Laboratory investigations showed anemia, hypoalbuminemia, hyperbilirubinemia, lactic acidosis and prolonged coagulation profile. A contrast-enhanced computed tomography (CT) scan of the abdomen showed evidence of incarcerated left spigelian hernia. Moreover, advanced cirrhosis of the liver was detected with hypertrophy of the caudate lobe, extensive ascites and splenomegaly. After establishing the diagnosis of incarcerated spigelian hernia, with a picture of advanced liver cirrhosis, Child-Pugh-Turcotte (CPT) score of C and a Model for End-Stage Liver Disease (MELD) score of 19 and Mayo score for post-operative mortality of 16% in 7 days and 53% in 30 days. Given the patient's condition which necessitates urgent operative intervention beside the risk of decompensation of pre-existing liver disease and high mortality. Decision was made to proceed with laparoscopic hernia repair. Intraoperatively, ischemic small bowel segment was resected with creation of end ileostomy. Conventional anatomical repair of the hernia defect was performed. Postoperatively, the patient was managed and resuscitated in critical care unit and then discharged home in a satisfactory condition on post-operative day 15. She passed away prior to liver transplantation, thirty-two days post-operatively in a different institution.

Conclusion: The surgical management of complicated hernias in an emergency setting comprise a notable number of cases encountered by surgeons. It always needs special attention. Moreover, cirrhotic patients with their predicted high morbidity and mortality require even further vigilance. Therefore, a patient-tailored approach is always recommended when managing similar cases to provide optimal outcomes.

Background: Gastric cancer is one of the most common cancers. We can use AI for predictive models and help us in early detection and diagnosis.

Objective: This study examines the use of a neural network model to classify gastric cancer based on clinical, demographic and genetic data.

Methods: The data from the participants were divided into two subsets. 70% training data and 30% testing data. The neural network model has 12 input variables. Factors influencing a disease can be age, sex, family history, smoking, alcohol, Helicobacter pylori infection, food habits, diseases, endoscopic images, biopsy, CT scan, gene variants (TP53, KRAS, CDH1). The hyperbolic tangent activation function has four units in the hidden layer of a model. The output layer used a Softmax activation function and cross-entropy error function which predicted the presence of gastric cancer. The assessment was done on the predictors.

Results: The training and testing datasets showed 100% accuracy predicting gastric cancer in the model outputs. Age, gender, family history, infection with Helicobacter pylori, smoking, and drinking alcohol are the biggest predictors. Information from clinical diagnosis like endoscopic images, biopsy and CT scans helped the predictive model.

Conclusion: The neural network was able to perform well for gastric cancer predictions using multiple clinical and demographic factors, showing great utility. The outcomes for AI-based diagnostic tools look promising in cancer, however generalization needs to be confirmed using external datasets. The study shows how artificial intelligence can better precision medicine and cancer diagnosis.

Background: Carotid atherosclerosis is often mentioned as one of the main causes of stroke. Currently, embolization is considered the most common mechanism that causes ischemic strokes due to atherosclerotic lesions in the carotid artery. Transcranial Doppler (TCD) ultrasound provides relatively inexpensive, noninvasive, real-time measurement of blood flow characteristics and cerebrovascular hemodynamics within brain arteries. The pulsatile index measured by transcranial Doppler is a parameter that indicates the degree of elasticity of the blood vessels of the brain.

Objective: The aim of this study is to determine the relationship between the value of the pulsatile index of the middle cerebral artery and the basilar artery in patients with carotid stenosis using transcranial Doppler and the value of the pulsatile index in relation to the degree of carotid stenosis.

Methods: The study involved a total of 140 patients examined at the Color Doppler and Transcranial Doppler Department of the Neurology Department of the General Hospital "Prim Dr. Abdulah Nakas" Sarajevo The patients were divided into two groups. The research was conducted in the General Hospital "Prim. dr. Abdulah Nakas" in Sarajevo at the Department for Color Doppler and Transcranial Doppler of the Department of Neurology and included patients examined in the period from February 2022 to December 2022. All patients underwent extracranial Doppler of the carotid arteries and transcranial Doppler of the middle cerebral artery and basilar artery.

Results: The mean values of PI in ACM in the total sample were statistically significantly lower in patients with stenosis up to 50% compared to the average in patients with stenosis over 50%. Average values of PI in AB in the total sample were statistically significantly lower in patients with stenosis up to 50% compared to the mean values in patients with stenosis over 50%.

Conclusion: Transcranial Doppler findings showed an increased pulsatile index in patients who had carotid stenosis greater than 50% compared to patients with mild carotid stenosis. The study showed that in clinical work it would be necessary to introduce the pulsatile index as an indispensable neurosonological parameter that would be included in the findings of the transcranial Doppler and thus objectify the potential risk of a cerebrovascular ischemic event.

Background: Benign prostatic hyperplasia (BHP) is a common disease in the urinary system and often appears in old male patients with the incidence increasing proportionally to age.

Objective: The study aimed to describe the anatomy and imaging findings of the prostatic artery (PAs) on 3D rendering dual-energy multi-sequence computed tomography (DECT) in patients with symptomatic benign prostatic hypertrophy (BPH) treated by prostatic artery embolisation (PAE).

Methods: The study was conducted on 64 patients with BPH who underwent DECT scans with 3D rendering of the pelvic artery before intervention from August 2022 to November 2023. The PAs were independently evaluated for each side, focusing on the number of branches, origin, tortuosity, atherosclerotic plaque, and anastomoses with adjacent arteries.

Results: Among 128 pelvic sides where the PAs can be observed, the rate of finding 01 prostate artery on each side was high (96.1%), and the rate of 02 prostate arteries on each side was rare (3.9%). In 133 prostatic arteries, the most common type of prostatic artery according to origin is type I (29.6%), followed by type III (24.6%). The atherosclerotic prostatic artery rate is 24.6%, and the average diameter is 1.5±0.4 mm. The tortuosity prostate artery accounted for 74.6%. The anastomosis to the contralateral prostatic artery rate is 48.4%, followed by the penis and rectum anastomoses.

Conclusion: PAs have abundant original varies between the left and right sides and between patient to patient. The most common form arises from the internal pudendal artery.

Background: T Congenital diaphragmatic hernia (Bochdalek hernia), which occurs in 1/2,200 live births, is typically diagnosed in the prenatal or immediate postnatal period. Diaphragmatic hernia is rare in older children and adults and can be presented with acute respiratory failure, incarcerated hernia, acute pancreatitis, or rare conditions such as left portal hypertension and hypersplenism.

Objective: The aim of this case report was to present 15-year-old male with vomiting and mild upper abdominal pain who had mild epigastric tenderness with no guard and an IV grade splenomegaly caused by Congenital Diaphragmatic Hernia. Case presentation: We report a case of left portal hypertension and hypersplenism in an adolescent with congenital diaphragmatic hernia. Typical clinical presentations include abdominal pain, respiratory symptoms, or intestinal obstruction in incarcerated diaphragmatic hernia. Additionally, some uncommon symptoms reported in literature include gastrointestinal bleeding as a result of portal hypertension, thrombocytopenia due to hypersplenism, and acute pancreatitis.

Conclusion: The treatment has released the obstruction in the splenic vein and reduce returned collateral gastric blood flow. Splenectomy should be considered based on many factors, such as anatomic anomalies or the degree of hypersplenism and portal hypertension. This is a rare clinical entity with only a few cases that have been reported in the literature.

Background: Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder and involves multiple organs, intellectual disability and epilepsy. Mutations in TSC1 and TSC2 genes are responsible for the molecular disease mechanism.

Objective: The aim is to determine molecular background of a patient with a suspicion of TSC.

Case presentation: In this case report, we describe a seven year old patient with the clinical manifestation of TSC that includes supratentorial changes, subependymal hamartomas and angifibromas in the facial area. Besides the brain and skin changes, no other TSC characteristics were observed. The patient was referred to molecular genetic testing using Next Generation Sequencing (NGS). Results: Clinical exome sequencing revealed intronic TSC2 c.4849+2T>G variant. The variant was confirmed using Sanger sequencing on the subject. However, the variant was not detected in the parents, which indicated that it arose de-novo. The RegSNP-intron, Mutation Taster and Human Splicing Finder were used as a bioinformatic tools to predict the possible effect on protein. Using bioinformatic tools, it was determined that the variant is possibly damaging to protein.

Conclusion: This data suggest that observed splicing intronic variant could be the cause of TSC in this pediatric patient.