Diagnosis Research Articles

Transmission of Genetic Material and Malignant Cells of Cutaneous Origin via Surgical Sutures.

Seeding of skin cancer cells following diagnostic or therapeutic surgical procedures can occur and might cause local recurrences. As current preferred therapy for skin malignancy is surgical excision, seeding of tumour cells by manipulating malignant tissue or suturing can be another factor leading to recurrences. To evaluate whether genetic material and malignant cells adhere to standard suture materials. This prospective study included patients who underwent excision of skin lesions. Monofilament and braided sutures were examined. Sutures were passed through the observed tumour or healthy skin margins and were examined for DNA material and cells by cytological analysis, cell culture and characterization, and DNA analysis. Twenty-two patients and 148 sutures were included. DNA quantification showed DNA material on all sutures, with no significant difference between braided and monofilament sutures. Cytological analysis showed that all slides prepared from cell blocks contained normal squamous and atypical cells. Cell culture and characterization showed viable cells adhering to the sutures under direct light microscopy. Cell cultures showed rapid proliferation of epithelial cells from squamous cell carcinoma specimens. Suture materials carry DNA material and cells, including malignant cells of cutaneous origin and may seed them at distant sites.

Diagnostic and treatment strategies for pediatric acute lymphoblastic leukemia in low- and middle-income countries.

The survival rate of children and adolescents with acute lymphoblastic leukemia (ALL), the most common pediatric cancer, has improved significantly in high-income countries (HICs), serving as an excellent example of how humans can overcome catastrophic diseases. However, the outcomes in children with ALL in low- and middle-income countries (LMICs), where approximately 80% of the global population live, are suboptimal because of limited access to diagnostic procedures, chemotherapeutic agents, supportive care, and financial assistance. Although the implementation of therapeutic strategies in resource-limited countries could theoretically follow the same path of improvement as modeled in HICs, intensification of chemotherapy may simply result in increased toxicities. With the advent of genetic diagnosis, molecular targeted therapy, and immunotherapy, the management of ALL is changing dramatically in HICs. Multidisciplinary collaborations between institutions in LMICs and HICs will provide access to strategies that are suitable for institutions in LMICs, enabling them to minimize toxicities while improving outcomes. This article summarizes important aspects of the diagnosis and treatment of pediatric ALL that were mostly developed in HICs but that can be realistically implemented by institutions in countries with limited resources through resource-adapted multidisciplinary collaborations.

European survey showed wide variations in diagnostic procedures and management strategies for metabolic bone disease of prematurity in 22 countries.

The aim of this study was to evaluate the clinical relevance, diagnostic procedures and treatment strategies for metabolic bone disease in preterm infants across Europe. An e-survey was distributed by email to 545 neonatal units in 38 European countries between July and October 2021. The protocol was based on the Checklist for Reporting Results of Internet E-Surveys. In total, 76 neonatal units (14%) from 22 European countries (58%) completed the e-survey. In the 12 months prior to the survey, 29% of 76 units reported at least one symptomatic case of fracture associated with metabolic bone disease of prematurity, and 18% of 76 units reported at least one case of craniofacial deformity. Most centres followed local guidelines for diagnosis (77% of 73 units) and treatment (63% of 72 units). Alkaline phosphatase was the blood marker most used for treatment indication (81% of 72 units), and phosphate supplementation was the treatment most used (82% of 71 units). Metabolic bone disease of prematurity remains clinically relevant. Wide variations in diagnostic procedures and management strategies were observed in European neonatal units. Evidence-based consensus guidelines appear urgently needed to reduce the number of symptomatic cases.

Emergency endovascular and percutaneous urological interventions: A pictorial review.

Emergency endovascular and percutaneous urological interventions encompass various diagnostic and therapeutic procedures to address various genitourinary conditions. These urological interventions are life-saving in addressing complications following biopsy, post-nephrectomy, post-transplant, and post-trauma. Compared to other surgical fields, there are relatively fewer urological emergencies. However, they require prompt radiological diagnosis and urgent interventions. This pictorial essay emphasizes various urological emergencies and urgent interventional management.

Current status of endoscopic ultrasound-guided antitumor treatment for pancreatic cancer.

Endoscopic ultrasound (EUS) was developed in the 1990s and has significantly transformed pancreatic tumor diagnosis. Subsequently, EUS has rapidly shifted from being a purely diagnostic procedure to being used in a wide range of interventional procedures. Recently, new therapeutic techniques, such as EUS-guided fine needle injection (EUS-FNI) or radiofrequency ablation (RFA), have been developed to deliver various antitumor agents. Despite technological advancements, pancreatic cancer (PC) has a poor prognosis and improvements in treatment outcomes are urgently required. One of the reasons for the limited response to antitumor agents in PC is the abundant desmoplasia and hypovascular nature of the tumor, complicating drug delivery into the tumor. Thus, changing the tumor microenvironment may be important to enhance the effectiveness of chemotherapy, and direct injection of antitumor agents into the tumor under EUS guidance can help overcome treatment challenges in PC. Treatment approaches using the EUS-FNI or RFA technique are expected to further improve the prognosis of PC. Therefore, this study reviewed the existing literature on EUS-guided antitumor therapy, specifically highlighting its application in PC to address the current challenges and to identify potential advancements in the field.

Seroprevalence of Hepatitis A virus and Hepatitis E virus in patients presenting with acute viral hepatitis: A retrospective study of 2-years at tertiary care Hospital, Himachal Pradesh in Northern India

: Hepatitis-A virus and Hepatitis-E virus are spread enterically, resulting in acute viral hepatitis (AVH) in developing countries. Fecal-oral transmitted hepatitis cause major health problems in our country. The aim of present study is to determine the seroprevalence of HAV and HEV in AVH patients attending the tertiary care hospital at Dr. Rajendra Prasad Govt. Medical College Kangra at Tanda, Himachal Pradesh (DRPGMC). Insufficient data makes it difficult to determine an accurate prevalence of illness in this region of India.: The Viral Research and Diagnostic Laboratory (VRDL), in the Department of Microbiology at DRPGMC Tanda, Himachal Pradesh, consolidated retrospective data of 2-years duration. The study population included 784 serum samples received from outdoor and indoor patients were considered in the study.: Of the 784 serum samples that were chosen for our study, HAV and HEV reactive patients showed a seroprevalence of 11.20% and 1.80% respectively. During two years of the study, the co-infection rate of HAV and HEV in patients with acute viral hepatitis was 0.5%. Compared to females (31.80% and 42%), males reported higher seroprevalence of HAV (68.10%) and HEV (57.10%). Further data shows that HAV infection was observed in all age groups and the highest prevalence was reported in the age range from 11 to 20 years. The HEV infection was not observed in the pediatric age groups, it was only observed in adults. Maximum prevalence of HEV was reported in the age group of 21-30 years. The highest number of reactive cases was recorded in the month of August and September.: We found that the prevalence of HAV is significantly higher than that of HEV during two years of study period. In this study, we observed that HAV is more predominant in males as compare to females.HEV infections were only observed in adults.

Late Outcomes of Undiagnosed Unilateral Condylar Hyperplasia and Reoccurrence of Mandibular Asymmetry

Unilateral condylar hyperplasia (UCH) is a rare cause of asymmetrical mandibular overgrowth because of the presence of an atypical growth in the affected condyle. SPECT (single-photon emission computed tomography) can easily establish the presence of an atypical, prolonged growth exceeding far beyond normal condylar growth and activity. A CT, CBCT, or LDCT (computed tomography, cone-beam computed tomography, or low-dose computed tomography) can confirm the diagnosis by evaluating the scope of bone overgrowth, mandibular basis/ramus asymmetry, tendency to condylar head enlargement, changes in bone density, and occurrence of differences in condylar head shapes, size, and bone structure. In most cases, a condylectomy is the procedure of choice in growing cases of UCH to remove the pathological condyle and reduce asymmetry levels. Sometimes, the growth is very slow and progressive over time, causing slowly growing asymmetry with similar symptoms to any other mandibular asymmetry, and this causes some troublesome procedures in UCH diagnostics, resulting in patients being underdiagnosed; it can even lead to some relapses in mandibular asymmetry and skeletal malocclusion after previously performed orthodontic and surgical treatment of such discrepancies. When the source of asymmetry is not identified in time, possible inadequate treatment protocols can be used. If any relapse of facial and mandibular asymmetry re-occur, SPECT and CT evaluation are necessary to evaluate if condylar hyperplasia is present and to establish what kind of surgical intervention should be used in each case.

Multi-objective optimization for vector quantization via genetic algorithm

The issue of image compression continues to be a subject of ongoing research within the domain of image processing, particularly in the context of medical applications. The quality of the decompressed image can vary depending on the accuracy of the compression technique, resulting in either fine or distorted details. Therefore, the diagnostic procedure performed by medical professionals is contingent upon the precision of the compression and decompression process. In addition, the compression of medical images serves to decrease the amount of storage required, thereby enabling faster transmission over computer networks through the reduction of their bit size. This paper proposes a hybrid mix of the discrete wavelet transform (DWT) technique and vector quantization (VQ) to improve the compression technique of medical images. The aim of the proposed compression technique is to preserve diagnostic image information while achieving a high compression ratio. First, noise in medical images is caused by salt pepper noise. At the same time, the edges of the images are maintained in sharpness and context. Then, a lossless compression method is applied to the wavelet coefficients of the subband with the lowest frequency, while the thresholding method was used to efficiently construct coefficients for high-frequency sub-bands. This process will produce a traditional VQ, which is estimated via the Genetic Algorithm (GA) with fuzzy clustering. While Arithmetic encoded theory was being utilized to quantize coefficients, the proposed compression technique was evaluated by dividing the image into two levels and three levels of sub-bands, respectively, in two different scenarios. Comparing the decompressed image to the filtered image by means of different evaluation metrics, the proposed method can enhance compression performance and strike a balance between compression ratio and image visual quality.

Prevalence and molecular epidemiology of carbapenemase-producing Enterobacterales isolated from dog and cat faeces submitted to veterinary laboratories in the USA.

To estimate the prevalence of carbapenemase-producing Enterobacterales (CPE) carriage among pets using faecal specimens submitted to veterinary diagnostic laboratories throughout the US. A secondary aim was to employ whole-genome sequencing (WGS) to characterize isolates of CPE from companion animals and compare them to publicly available CPE genomes. To estimate the prevalence of CPE in companion animals in the USA, a multicenter surveillance study including 8 different veterinary diagnostic laboratories from across the USA was conducted. Briefly, remnant faecal specimens from dogs and cats were screened using two selective agar plates (CHROMID Carba and MacConkey with 1 mg/L cefotaxime and 0.125 mg/L meropenem) and presumptive CPE isolates screened by the modified carbapenemase inactivation method for carbapenemase production. A total of 2393 specimens were screened and yielded 196 isolates for carbapenemase screening. A total of 5 isolates from 4 dogs and 1 cat at 3 different veterinary diagnostic laboratories were confirmed to produce a carbapenemase (0.21%). Whole-genome sequencing (WGS) revealed two E. coli (ST167) isolates that both produced an NDM-5 carbapenemase, two Enterobacter hormaechei (ST171) isolates that produced an NDM-5 carbapenemase and a KPC-4 carbapenemase respectively and one Klebsiella oxytoca (ST199) that produced an Oxa-48-type carbapenemase. Both E. coli isolates were found to be within at least 22 SNPs of previously characterized canine and human CPE isolates. This study demonstrates that the prevalence of CPE among companion animals is relatively low (0.21%) but that given the genetic relatedness of animal isolates to human isolates, additional surveillance is needed.

Case Report: A case of disseminated cutaneous listeriosis following appendicitis from Lao PDR

Background Listeria monocytogenes is a food-borne pathogen that is a rare cause of bacteraemia and meningitis in immunosuppressed patients, and carries a high mortality rate. Cutaneous manifestations of listeriosis are rare, and are usually associated with direct inoculation of the skin. Case A 41-year-old woman who initially presented to a hospital in Laos with appendicitis was diagnosed with disseminated listeriosis with cutaneous involvement. Intra-abdominal pathology probably contributed to bacterial bloodstream invasion. Initial treatment with meropenem was switched to ampicillin based on best practice, however our patient died 5 days after diagnosis. Conclusions This case highlights listeriosis as an important cause of mortality in low- and middle-income countries, exacerbated by poor availability of laboratory diagnostics and ineffective empiric antibiotic regimens. Improvements in food hygiene, surveillance, and increased laboratory capacity are important strategies to reduce rates of infection and clinical outcomes.

Use of Guidewires of Bioradmedisys in Urology

Use of Guidewires of Bioradmedisys in Urology

Retrospective study of laboratory-based surveillance of rabies in wild and domestic animals in the southern United States, 2010-2021.

We performed a retrospective study of all case submissions for the rabies virus (RABV) direct fluorescent antibody test (DFAT) requested of the Tifton Veterinary Diagnostic and Investigational Laboratory (Tifton, GA, USA) between July 2010 and June 2021. Submitted were 792 samples from 23 animal species from 89 counties in Georgia, and 4 neighboring counties in Florida, 1 in South Carolina, and 1 in Alabama. In 13 (1.6%) cases, the DFAT result was inconclusive; 779 (98.4%) cases had a conclusive (positive or negative) test result. Of these 779 cases, 79 (10.1%) tested positive across 10 species. The remaining 700 (89.9%) cases were negative. The main reason for submission for RABV testing was human exposure to a potentially rabid animal in 414 (52.3%) cases. Among the 79 positive cases, 74 (93.7%) involved wildlife; raccoons (51 cases; 68.9%) were the primary host confirmed with RABV infection, followed by skunk and fox (8 cases each; 10.8%), bobcat (5 cases; 6.8%), and bats (2 cases; 2.7%). Only 5 domestic animals (6.3% of the positive cases) tested positive during our study period; one from each of the bovine, canine, caprine, equine, and feline species. Hence, the sylvatic cycle plays the predominant role in circulating RABV infection in our study area.

Identification of Gene Expression in Different Stages of Breast Cancer with Machine Learning

Identification of Gene Expression in Different Stages of Breast Cancer with Machine Learning

Clinical Audit of Assisting Renal Biopsy Procedure Performed in Nephrology Unit of a Tertiary Care Hospital with a View to Develop Standard Nursing Procedure Protocol

Clinical Audit of Assisting Renal Biopsy Procedure Performed in Nephrology Unit of a Tertiary Care Hospital with a View to Develop Standard Nursing Procedure Protocol

A randomized, double-blind, placebo-controlled study on immune improvement effects of ethanolic extract of Echinacea purpurea (L.) Moench in Korean adults.

Echinacea purpurea (L.) Moench (EP), a medicinal plant native to North America, is now cultivated in various regions including Europe. With increasing popularity of Echinacea in Korea recently, a human clinical trial was conducted to evaluate immune-enhancing efficacy and safety of EP 60% ethanolic extract (EPE) in Koreans. Eighty volunteers were recruited for this randomized, double-blind, placebo-controlled clinical trial. They were randomly divided into two groups and given either a daily dose of 200 mg of EPE or a placebo. All participants underwent testing for Natural Killer (NK) cell cytotoxic activity, serum cytokine levels (IL-2, IL-6, IL-10, IL-12, IFN-γ, TNF-α), Wisconsin Upper Respiratory Symptom Survey-21 (WURSS-21), and Multidimensional Fatigue Scale (MFS) during this study to assess changes in outcomes. After 8 weeks of EPE consumption, a significant increase in NK cell cytotoxic activity compared to the placebo was observed. Additionally, serum cytokine levels of IL-2, IFN-γ, and TNF-α also significantly increased following EPE consumption. However, no significant changes were observed in WURSS-21 and MFS before and after EPE consumption. Throughout the 8-week study period, no adverse reactions were reported in relation to EPE consumption, and there were no clinically significant changes in diagnostic laboratory tests or vital signs in the EPE group. These results indicate that consumption of EPE could lead to immune improvement without any adverse effects. This clinical trial was the first to demonstrate beneficial effects of EPE consumption on immunity in Korean adults.

The use of telepathology in veterinary medicine: a scoping review.

Telepathology, as a subset of teleconsulting, is pathology interpretation performed at a distance. Telepathology is not a new phenomenon, but since ~2015, significant advances in information technology and telecommunications coupled with the pandemic have led to unprecedented sophistication, accessibility, and use of telepathology in human and veterinary medicine. Furthermore, telepathology can connect veterinary practices to distant laboratories and provide support for underserved animals and communities. Through our scoping review, we provide an overview of how telepathology is being used in veterinary medicine, identify gaps in the literature, and highlight future areas of research and service development. We searched MEDLINE, CAB Abstracts, and the gray literature, and included all relevant literature. Despite the widespread use of digital microscopy in large veterinary diagnostic laboratories, we identified a paucity of literature describing the use of telepathology in veterinary medicine, with a significant gap in studies addressing the validation of whole-slide imaging for primary diagnosis. Underutilization of telepathology to support postmortem examinations conducted in the field was also identified, which indicates a potential area for service development. The use of telepathology is increasing in veterinary medicine, and pathologists must keep pace with the changing technology, ensure the validation of innovative technologies, and identify novel uses to advance the profession.

Calf diarrhea diagnostics

The decision to submit calf diarrhea samples to a veterinary diagnostic lab can often be challenging. Balancing the value of the information with the ability to promote positive manage­ment changes is the conundrum the veterinarian often finds themself in. It is important for veterinarians to understand the available tests, interpret results properly, and convey those re­sults in a manner that promotes improvements in calf health.

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

The case report by Mabry et al. (1970) of a family with four children with elevated tissue non-specific alkaline phosphatase, seizures and profound developmental disability, became the basis for phenotyping children with the features that became known as Mabry syndrome. Aside from improvements in the services available to patients and families, however, the diagnosis and treatment of this, and many other developmental disabilities, did not change significantly until the advent of massively parallel sequencing. As more patients with features of the Mabry syndrome were identified, exome and genome sequencing were used to identify the glycophosphatidylinositol (GPI) biosynthesis disorders (GPIBDs) as a group of congenital disorders of glycosylation (CDG). Biallelic variants of the phosphatidylinositol glycan (PIG) biosynthesis, type V (PIGV) gene identified in Mabry syndrome became evidence of the first in a phenotypic series that is numbered HPMRS1-6 in the order of discovery. HPMRS1 [MIM: 239300] is the phenotype resulting from inheritance of biallelic PIGV variants. Similarly, HPMRS2 (MIM 614749), HPMRS5 (MIM 616025) and HPMRS6 (MIM 616809) result from disruption of the PIGO, PIGW and PIGY genes expressed in the endoplasmic reticulum. By contrast, HPMRS3 (MIM 614207) and HPMRS4 (MIM 615716) result from disruption of post attachment to proteins PGAP2 (HPMRS3) and PGAP3 (HPMRS4). The GPI biosynthesis disorders (GPIBDs) are currently numbered GPIBD1-21. Working with Dr. Mabry, in 2020, we were able to use improved laboratory diagnostics to complete the molecular diagnosis of patients he had originally described in 1970. We identified biallelic variants of the PGAP2 gene in the first reported HPMRS patients. We discuss the longevity of the Mabry syndrome index patients in the context of the utility of pyridoxine treatment of seizures and evidence for putative glycolipid storage in patients with HPMRS3. From the perspective of the laboratory innovations made that enabled the identification of the HPMRS phenotype in Dr. Mabry’s patients, the need for treatment innovations that will benefit patients and families affected by developmental disabilities is clear.

Blood Viscosity and its Clinical Implications in Ischemic Stroke and Chronic Heart Failure: Insights from a Case Report

Background Blood viscosity has received increased attention as a potential predictor of ischemic stroke risk, particularly in patients with chronic heart failure (CHF). Despite the importance of this link, there has been a notable paucity of comprehensive research on the subject. Hence, the major goal of this study was to shed light on the potential importance of blood viscosity in individuals with ischemic stroke and CHF. Case Presentation An 85-year-old male was presented to the emergency department after three days of gradually decreasing consciousness. His medical history included hypertension and CHF. His Glasgow Coma Scale (GCS) was determined to be E2M5V3, and he displayed evidence of upper motor neuron facial palsy as well as right hemiparesis. The clinical assessment scores, which included the NIHSS and mRS, were 10 and 4, respectively. MRI imaging confirmed the existence of several acute infarctions. Other diagnostic procedures, including an x-ray, revealed cardiomegaly and echocardiographic findings were compatible with grade I diastolic dysfunction. His blood viscosity was 8.19 cP, which was much higher than normal. The patient was diagnosed with ischemic stroke, CHF, and hyperviscosity based on these findings. Despite a small increase in blood viscosity to 8.16 cP after a six-day treatment session, the patient showed significant clinical improvement. Unfortunately, he was readmitted immediately after being discharged and died three days later. Conclusion This case demonstrates the importance of blood viscosity in the evaluation and prognosis of patients with ischemic stroke and CHF.

Morphological classification, anatomical variations, innervation patterns, musculocutaneous nerve relation of the coracobrachialis muscle: Anatomical study and clinical significance.

The anatomical variations of coracobrachialis muscle (CBM) are of great clinical importance. This study aimed to elucidate the morphological variations, innervation patterns and musculocutaneous nerve (MCN) relation to CBM. Upper limbs of fifty cadavers (30 males and 20 females) were examined for proximal and distal attachments, innervation pattern of CBM and its relation to MCN. Four morphological types of CBM were identified according to number of its heads. The commonest type was the two-headed (63.0%) followed by the single belly (22.0%), three-headed (12.0%) and lastly four-headed (3.0%) type. Moreover, an abnormal insertion of CBM was observed in four left limbs (4.0%); one inserting into the medial humeral epicondyle, the second into the upper third of humeral shaft, the third one in the common tendon of biceps, and the fourth one showing a bifurcated insertion. Also, four different innervation patterns of CBM were identified including MCN (80.0%), lateral cord (14.0%), lateral root of median nerve (4.0%), and median nerve itself (2.0%). The course of MCN was superficial to the single belly CBM (19.0%) and in-between the heads in the other types (71.0%). Measurements of the length and original distance of CBM muscular branches originating from MCN revealed no sex or side significant difference. Awareness of the anatomic variations, innervation patterns, and MCN relation of CBM is imperative in recent diagnostic and surgical procedures to obtain definite diagnosis, effective management and good outcome.