diagnosis

The purpose of this work is to implement methods and develop tools for nonlinear dynamic identification of the Oculomotor System (OMS) “input-output” in the form of Multidimensional Transient Functions (MTF) based on eye tracking data and their use in an information system for diagnosing the psychophysiological state of a person. The object of the study is the process of diagnosing the psychophysiological state of an individual based on innovative eye-tracking technology. The subject of the research is computational algorithms and software for determining diagnostic features based on identification data of compulsory medical insurance in the form of MTF, constructing a Bayesian classifier using machine learning in the established space of the most informative features. A methodology has been developed and implemented for the experimental study of human compulsory mental health using innovative eye-tracking technology to record compulsory mental health responses to test visual stimuli. The obtained empirical data from input-output studies are used for the identification of OMS based on Volterra polynomials. Experimental studies of compulsory medical insurance of respondents were carried out before and after the working day. Based on the data obtained using the Tobii Pro TX300 eye tracker, the transient functions of the first, second, and third orders of the OMS were determined. Variability of second and third order transient functions was revealed for different psychophysiological states of the respondent (normal or fatigue). Thus, it seems appropriate to use MTF in diagnostic studies in the fields of neuroscience and psychology. Information technology for diagnosing human psychophysiological conditions has been further developed through the use of compulsory health insurance information models based on Volterra polynomials as a source of primary data. This allows for an increase in the accuracy of OMS modeling and, consequently, enhances the reliability of diagnosis within the framework of the proposed heuristic features. A set of heuristic features is proposed, which are determined using integral and differential transformations of the MTF OMS. The information content of individual features and all possible combinations of them in pairs was studied using the Probability of Correct Recognition (PCR) indicator. Two-dimensional feature spaces with the maximum PCR value (0.938) were identified during the diagnosis of a person’s psychophysiological state.

Aim: Kidney stone disease, which can affect people of all ages and whose incidence increases day by day, is becoming a public health problem due to treatment costs. This study aims to determine how factors related to kidney stones affect the diagnosis of the disease when taken together, rather than determining their relationship with the disease one by one.Materials and methods: An open-access dataset containing kidney stone status and associated factors was used in the study. Mann Whitney U test and independent sample t-test were used in data analysis. Logistic regression was performed with the backward variable selection method to determine the factors associated with kidney stones. ROC analysis was used to determine the power of the variables that were significant as a result of logistic regression analysis, individually and together, in discriminating kidney stones.Results: According to the results of logistic regression analysis, gravity, cond, and urea calc variables were found to be associated with kidney stones. With ROC analysis, it can be said that urea, calc, and gravity variables with AUC values above 0.60 can distinguish kidney stones. When the combinations of these variables are examined, the AUC values of the binary combinations are between 0.734 and 0.759, while the AUC value obtained for the triple combination is 0.831.Conclusion: According to the results obtained from the article, it can be said that while the factors associated with the disease and used in the diagnosis have little effect on the diagnosis of the disease alone based on the AUC values obtained from the ROC analysis, it can be said that considering them together increases the accuracy in diagnosis. Therefore, considering the factors thought to be associated with the disease together may be more appropriate in diagnosis and may give more accurate results.

Background: Tuberculosis (TB) is a significant global health problem, and extrapulmonary TB can present with no specific clinical or radiographic findings. Genito-urinary TB is often associated with elevated tumor markers and can be misdiagnosed as ovarian/fallopian tube carcinomas, especially in elderly female patients, as genitourinary TB commonly affects women of reproductive age.Objective: We present a rare case of genito-urinary TB in an elderly female patient who was initially misdiagnosed with ovarian cancer with metastasis.Case presentation: An 83-year-old woman with a medical history of diabetes and hypertension presented with complaints of abdominal distension. Diagnostic imaging revealed lesions in the ovaries and omentum and tumor markers were elevated, leading to a suspicion of ovarian cancer with metastases to the omentum. The patient underwent a diagnostic laparotomy and surgical removal of ovaries, fallopian tubes, and the lesion of the greater omentum. However, no malignancy was found during the morphological evaluation. Further histopathological examination confirmed the final diagnosis of genito-urinary tuberculosis, and the patient received anti-TB drugs. The postoperative period was uneventful, and tumor marker levels decreased.Conclusion: As the clinical presentation of genito-urinary TB can mimic ovarian cancer, a histopathological examination should be performed for differential diagnosis, thereby reducing the possibility of inaccurate treatment. This case report highlights the importance of considering genito-urinary TB as a differential diagnosis in elderly female patients presenting with elevated tumor markers, abdominal distension, and suspected genital malignancy. It is crucial to carefully evaluate these cases and explore the possibility of genital TB as an alternative diagnosis, given the overlapping clinical presentation. This highlights the importance of a comprehensive diagnostic approach that includes considering TB in addition to malignancy, even in the context of elderly female patients.

Breast cancer associated with type-1 neurofibromatosis is a rare clinical entity. These patients have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest, such as pheochromocytoma. This publication aims to add to the literature a rare association between Type-1 Neurofibromatosis, breast cancer, and pheochromocytoma.We present a rare case of a 51-year-old Tunisian woman with neurofibromatosis who was diagnosed with breast cancer and pheochromocytoma. The breast tumor was classified as T4b N1M0, and the discovery of the pheochromocytoma was incidental to thoracic-abdominal-pelvic CT. She underwent surgery to remove the adrenal gland and was referred to medical oncologists to receive chemotherapy for her breast cancer. Type-1 Neurofibromatosis disorder is a benign disease but can expose patients to numerous neoplasms. The challenging diagnosis at an early stage can worsen the prognosis and make medical care more difficult.

A very unusual, interesting, and challenging case of a 24-year-old female who was born with three openings in the neck. The patient had chronic abdominal gaseous distention, recurrent abdominal pain, and constipation since early infancy. The patient presented in emergency with acute painful red, hot, and tender swelling in the left upper cervical area. Laboratory studies showed high inflammatory markers and a provisional diagnosis of abscess with a sinus was made. The patient underwent an emergency incision and drainage. Sinus recurred and a sinogram showed it to be a residual cyst in the left submandibular salivary gland. The total cyst excision was attempted with resultant recurrence and grade IV facial nerve palsy. Post-operatively recurrent infections caused by Methicillin-resistant Staphylococcus aureus (MRSA) required several courses of oral and intravenous broad-spectrum antibiotics with several hospital admissions with no resolution in sight. Subsequent ultrasound and magnetic resonance imaging showed a residual infected cyst, cutaneous sinus, and a fistula opening in the left ear canal. A diagnosis of branchial cyst type II of the first brachial cleft remnant with a fistula was established with bilateral branchial fistulas of the second branchial remnants and the associated colorectal hypoganglionosis based on radiological studies. The patient refused any further operative interventions. Therefore, the option of conservative treatment of hypoganglionosis with holobiotics consisting of prebiotics, probiotics and postbiotics, laxatives, dietary changes, lifestyle modifications, and dietary supplements started. All antibiotics were stopped. These therapies resulted in the resolution of residual first branchial remnants and recurrent MRSA infections with the improvement in the facial nerve palsy from grade V to grade III-IV together with an excellent cosmetic and functional result. The patient is doing well at follow-ups being infection-free for 18 months and repeat contrast-enhanced computed tomogram (CECT) has shown complete resolution of the residual cyst, sinus, and fistula with fibrosis.

Bone choristoma within a dermolipoma is a rare epibulbar tumor with a low prevalence. It is a benign tumor that does not usually cause discomfort or functional problems to patients who suffer from it. Its treatment is surgical and with an aesthetic purpose.We report the case of a 17-year-old patient with a bone choristoma, a tooth, within a dermolipoma.Epibulbar bone choristoma is a rare benign tumor that causes little discomfort to patients who suffer from it and is asymptomatic in most cases. Computed tomography (CT) is essential in its diagnosis and its treatment is surgical, but always due to aesthetic reasons.

Introduction: Bleeding from varices is a severe complication in patients with cirrhosis. Despite its treatment has been well established in the last three decades the mortality can be still high. This study compares the epidemiological features and the bleeding-related outcomes of a group of patients published about ten years ago with a more recent group of 168 consecutive patients. Methods: The diagnosis, the treatment, and the main outcomes (5-day failure, 5-day and 6-week rebleeding, 5-day and 6-week mortality) of variceal bleeding were evaluated according to the current guidelines.Results: The number of patients with cirrhosis admitted for variceal bleeding every year has progressively decreased in the last ten years. The age sex and severity of liver disease, evaluated with Child Pugh and MELD scores, were comparable in the two series. In the more recent series, there were significantly fewer patients with HCV infection and more patients with alcohol-related cirrhosis. The main outcomes of bleeding were comparable too. Overall, at 6 weeks 36.4% of patients did not overcome the bleeding episode. Conclusion: The decreasing incidence of bleeding from varices is likely attributable to antiviral treatment of HCV and HBV and the larger diffusion of beta-blockers in primary prophylaxis. Despite the larger application of the gold standard therapy, the mortality of variceal bleeding remains high in patients with cirrhosis.

Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.

The drug and biopharmaceutical enterprises play a pivotal part in transforming healthcare through the incident and delivery of creative cures and remedies. This item explores the key facets of these areas, stressing their impact on healthcare.Pharmaceuticals, outlined as wealthy secondhand in the diagnosis, situation, or stop of disease, aim to restore, correct, or refine everyday functions. On the other hand, biopharmaceuticals (or biologicals) circumscribe sugars, proteins, nucleic acids, living containers, or tissues and are curative devices that arise natural beginnings to a degree persons, animals, or microorganisms. In contrast to common pills combined with synthetic processes, biopharmaceuticals are primarily acquired through unaffected processes, containing extraction from living constructions or production utilizing alteration of genetic material Table 1.•    Some usual biopharmaceuticals, originally gleaned from animals or persons, are immediately created through biotechnological advancements.•    For instance, healing insulin, previously gleaned from porcine pancreatic islets, is immediately made utilizing alteration of genetic material in yeast (Saccharomyces cerevisiae) or E. coli.•    Biopharmaceuticals caused by alteration of genetic material usually fall into three classifications:•    Substances nearly equal to the body’s own key signaling proteins.•    Monoclonal antibodies look like those caused by apiece human immune plan against bacteria.•    Receptor builds (fusion proteins) established uniformly happening receptors connected to the immunoglobulin frame.Examples includeFrom living systems: Whole blood and ancestry parts, organs and fabric transplants, stem containers, antibodies for inactive immunization, polluted microbiota, human bosom milk, and human reproductive containers.Produced by recombinant DNA: Blood determinants, fabric plasminogen activators, hormones, hematopoietic growth determinants, interferon, interleukin-located produce, vaccines, monoclonal antibodies, tumor loss determinants, therapeutic enzymes.•    Key dispute Pharmaceutical manufacturing•    Biopharmaceuticals•    Healthcare strike•    Innovative medicines•    Therapeutic fragments•    Recombinant DNA technologies•    Personalized cure•    Gene medicines•    Regulatory processes.

Background and purpose: Schizophrenia (SZH) is a chronic mental disorder affecting the individuals` thoughts, perceptions, emotions, and behaviors. People with SZH may experience a wide range of positive, negative, and cognitive symptoms. Since there are no laboratory assays for definite SZH diagnosis, the authors aimed to identify the cerebral volumetric variations in SZH patients with the most prevalent positive symptoms as a diagnostic tool. This study selected 15 SZH patients displaying the most prevalent positive symptoms based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. Assessment tools included the Mini-Mental State Examination (MMSE) for cognitive impairment, the Positive and Negative Syndrome Scale (PANSS) for symptom evaluation, and the Wechsler Intelligence Scale (WIS) for intelligence assessment. Additionally, 15 Healthy Controls (HC) without cerebral pathologies were recruited. T1w MRI images underwent analysis using Freesurfer software. Data analysis employed Mann-Whitney U and χ² tests, considering p < 0.05 as significant.Results: SZH and HC groups showed no significant differences in age and gender. However, significant (p < 0.05) alterations in Gray Matter (GM) volume were observed in SZH patients compared to HC. In the right hemisphere, several regions exhibited volume reduction, including the Fusiform sulcus, Rostral middle frontal gyrus, isthmus cingulate, Frontal pole, Middle temporal gyrus, Lateral occipital gyrus, and Inferior Parietal gyrus. Notably, the Precentral sulcus and Postcentral gyrus demonstrated volume acceleration. Similarly, in the left hemisphere, various regions showed volume reduction while the Paracentral gyrus indicated volume acceleration, all significant (p < 0.05).Conclusion: SZH patients display significant volumetric brain changes, indicating potential for future diagnostic procedures in SZH.

Accumulated condylomas are exophytic tumors with a warty and hyperkeratosic surface due to the Human papillomavirus (HPV). Its prevalence in children is difficult to estimate due to limitations in epidemiological data. Its recurrent character is found in 30% of patients. Its management is very complex in children because of skin fragility. Circumcision is an operation consisting of the removal of part of the foreskin. This practice is done either with a simple knife or a pair of non-aseptic scissors which can be a source of contamination including HPV (Condyloma). Traditional circumcision does not seem to be reported in the literature as a mode of contamination. We report a case of genital condyloma in a child 2 years after circumcision. This is a 2-year-old male with no medical history but with a surgical history of circumcision that was brought by his parents in dermatological consultation for papular lesions accumulated on the penis. At the interrogation, we found the notion of recent circumcision performed by a tradithérapeute. The physical examination finds a good general condition. Dermatological examination reveals on the glans of multiple papules, exophitic, with warty and hyperkeratotic surface, of normal skin color. Furthermore, the physical examination of both parents was normal. The diagnosis of accumulated condyloma secondary to probable circumcision was retained before the clinical appearance of the lesions. Two electrocoagulation sessions spaced one month apart under local anesthesia were the treatment with a favorable evolution.

Background: Early-onset sarcoidosis is a rare systemic inflammatory granulomatous disease, distinguished by onset before the age of 4 and notably lacking pulmonary involvement. Unfortunately, the condition often shows clinical features similar to juvenile idiopathic arthritis, resulting in the misdiagnosis of numerous patients. This case report delves into the challenges associated with the delayed diagnosis of early-onset sarcoidosis, with a particular focus on the diagnostic methods employed to address this delayed recognition.Case presentation: A 15-year-old girl presented with a history of recurrent fever since infancy, accompanied by rash, arthritis, and joint deformity. Previously misdiagnosed with juvenile idiopathic arthritis, she underwent management with steroids and methotrexate, yielding no improvement. The diagnosis of early-onset sarcoidosis was made during adolescence based on serial examinations, comprehensive laboratory and radiological evaluations, and subsequent histopathology findings. Presently, the patient is receiving treatment with low-dose steroids and biologic therapy (Tocilizumab) and experiencing no disease progression.Conclusion: This case report underscores the importance of considering early-onset sarcoidosis in the differential diagnosis of pediatric patients exhibiting persistent arthritis from an early age. Early detection and treatment are crucial in averting complications and enhancing the overall quality of life. 

With the increase in incidence and prevalence of myeloid neoplasms in India, it has become a necessity to understand its molecular mechanisms, acquisition of genomic alterations, and understand its primary and secondary resistance pathways which ultimately impact the decision of therapeutics. The objective of this review is to investigate the molecular aspects of this disease type and identify the biomarkers that help with diagnosis, risk assessment, prognosis, and selecting the best line of treatment for a specific myeloid neoplasm. Advancements and innovations in molecular technologies from simplest Real-Time PCR to high throughput next-generation sequencing have played a vital role in screening the most common mutations and fusions to the novel and rare. Molecular technologies have helped to enumerate the genomic landscape of myeloid malignancies. The understanding of both- the mechanisms and the technology is a strong combination as it has helped revolutionize precision oncology and helped in giving better therapeutic choices with better clinical outcomes. The importance of cellular morphology, clinical symptoms, and molecular pathology in assessing the risk of myeloid malignancies is emphasized and summarized in the review. The review concludes that understanding molecular pathogenesis can be improved by using clinical-pathological-molecular strategies for diagnosis and therapy decision-making.

Periacetabular Osteotomy (PAO) is the gold standard for the treatment of hip dysplasia or acetabular retroversion. Due to the proximity of intra-pelvic arteries, there is a risk of iatrogenic vascular injuries, which can present with a delay and should be part of the differential diagnosis of significant pain following a PAO. We present the case of a never-described vascular injury following a periacetabular osteotomy in a 25-year-old woman who presented with gluteal pain 3 weeks after surgery. A delayed diagnosis of a pseudoaneurysm of the superior gluteal artery was made and successfully treated by embolization. The lesion is most probably related to the tip of a screw or to the drilling process.

Over the past 60 years, surgery has undergone a major transformation. Very possibly, this has been superior to those that occurred in all previous centuries. In this period of time, this specialty has reached all its splendor with a more integrated and complex exponential growth. Oncological surgery is a faithful exponent of this.

Sepsis, a life-threatening condition triggered by infection, poses a significant healthcare challenge with high mortality rates. The interplay between genetics and the immune response in sepsis, particularly in surgical and trauma patients, is complex and critical. Genetic polymorphisms, particularly in cytokine genes like TNF-α, IL-6, and IL-8, have been extensively studied for their influence on sepsis susceptibility, severity, and outcomes. Polymorphisms can alter gene expression and cytokine production, leading to variations in immune responses. Studies have also explored polymorphisms concerning sepsis in genes encoding CD86, TLR4, and SIRT6. This review highlights the association between genetic polymorphisms and inflammatory responses, focusing on their impact on sepsis outcomes in surgical and trauma patients. Genetic variations play a significant role in sepsis risk, severity, and prognosis, with potential implications for personalized therapeutic strategies. Biomarkers such as cytokine gene polymorphisms may aid in predicting sepsis risk and guiding treatment decisions. Complementary therapies like acupuncture and novel biomarkers like microvesicles carrying mitochondrial content provide additional avenues for personalized sepsis management. Furthermore, multiomics approaches offer promise in predicting postoperative outcomes in surgical patients. Understanding the genetic basis of sepsis is essential for improving prevention, diagnosis, and treatment, ultimately leading to better clinical outcomes. Combining genomics, bioinformatics, and clinical expertise, precision medicine can revolutionize sepsis management by tailoring interventions to individual genetic profiles, thus enhancing patient care and outcomes.

Introduction: The current gold standard for SARS-CoV-2 diagnosis by real-time RT-PCR has limitations of gene numbers that can be detected. In this study, we developed a low-cost and high-throughput next-generation sequencing technology that can overcome the limitations of RT-PCR. Methodology: A targeted sequencing panel (TSP) consisting of approximately 500 amplicons was designed that can simultaneously detect a broad range of gene loci of SARS-CoV-2 and genes for the most common viruses of respiratory infectious viruses in a single run of up to 96 samples. 448 samples and 31 control samples were examined independently with both TSP and RT-PCR, results were compared for accuracy and other indicators. Results:  TSP identified 50 SARS-CoV-2 positive samples with a 99.33% match to RT-PCR results. It is not surprising that TSP also identified multiple viral infections from 96 samples, whereas RT-PCR could not. TSP demonstrated its ability to conclude diagnosis for those undecided from RT-PCR tests. Conclusion: Our data demonstrated that TSP is a fast and accurate test for detecting multiple pathogen infections of the respiratory tract.

In this research, for the purpose of social implementation, we conducted a near-miss demonstration experiment using a car driving in the city and a drive-simulator. Next, we conducted a demonstration experiment to evaluate the reliability of biometric information measured on patients in a medical facility's recuperation ward and residents of a special nursing home. NBC-1100 emits radar waves from a distance of up to 3 meters from an object and uses the reflected waves to measure biological information such as pulse waves and breathing waves. The multi-element pyroelectric effect was used to measure body temperature by detecting infrared radiation emitted from distant objects. This device is unique in that it can measure biological information without being restrained while wearing clothes. In the demonstration test, simultaneous measurements were conducted on nine healthy men aged 45 to 65 using a pharmaceutically approved product (μBP-mp) and a prototype non-contact biological monitor (NBC-1100 manufactured by K&S Co., Ltd.). The demonstration experiments at medical institutions and nursing care facilities were conducted with the consent of residents and their families and were conducted on 30 men and women between the ages of 70 and 94 who were undergoing treatment or in need of care. The tests were conducted on residents with chronic diseases such as dilated gastrostomies, symptomatic epilepsy, hypertension, Alzheimer's disease, and progressive supranuclear palsy. The evaluation method was simultaneous measurement using a master meter (μBP-mp) and a test meter (NBC-1100).

Objective: This study aimed to evaluate the clinical characteristics and diagnostic challenges associated with osteomyelitis in patients presenting with persistent lumbar pain and fever.Methods: We conducted a descriptive observational study, reviewing four cases of osteomyelitis diagnosed at our hospital’s Emergency Department in 2022. Data on patient demographics, medical history, clinical presentation, diagnostic methods, and treatment outcomes were analyzed.Findings: The cases included middle-aged to elderly men, with predisposing factors such as urological interventions and immunodeficiency. Imaging studies, particularly CT-scan and MRI, were instrumental in diagnosing lumbar spondylodiscitis. Biopsies revealed lymphoplasmacytic infiltrates and treatment responses were positive in all cases after eight months of follow-up. The study highlights the importance of considering osteomyelitis in the differential diagnosis of lumbar pain and fever, necessitating multidisciplinary collaboration for timely management.

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.