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At least 19 recordsLinked to original sources
PubMed2025

Bacteriophages as a modern diagnostic tool: innovations, applications and challenges.

Bacteriophages, viruses that specifically infect bacteria, have emerged as a valuable tool in diagnostics due to their unique specificity and adaptability. This review explores the diverse applications of bacteriophages in diagnostic methods, from traditional phage typing to advanced molecular techniques such as phage display and PCR-based diagnostics. It highlights their use in identifying bacterial strains, monitoring fermentation processes, and diagnosing critical conditions like tuberculosis, MRSA infections, and cancer. Innovations such as phage-based biosensors and reporter phages enhance the speed and precision of diagnostics, offering significant advantages over traditional methods. Challenges, including bacterial resistance and immune responses to phages, are also discussed alongside strategies for mitigation, such as phage cocktails and engineering. Integrating phage technology with modern bioscience holds promise for addressing antibiotic resistance and revolutionizing clinical and industrial diagnostics. This comprehensive analysis underscores the potential of bacteriophages to transform the diagnostic landscape while identifying areas requiring further research and development.

Bacteriophages↗
PubMed1978

Symposium on pancreatitis: 3. Diagnostic tools in the management of chronic pancreatitis.

The chief diagnostic tools used in planning the management of chronic pancreatitis require close collaboration of the surgeon and radiologist. Barium meal, endoscopic retrograde cholangiopancreatography (ERCP), ultrasonography and angiography are the most useful procedures. The barium meal is the initial screening procedure. Uultrasonography should follow if there is suspicion of a pseudocyst or pancreatic abscess. It is also may be of value in demonstrating localized chronic pancreatitis. The most useful of all the tests is ERCP. This shows the pancreatic duct, the common bile duct, or both ducts, so that the surgeon may avoid operation where there is no defect to correct, or it may guide him in selecting an operation that is designed to correct the anatomical abnormalities of either duct. Angiography is occasionally of use when the foregoing procedures have not provided enough information. In over 80% of patients it is possible for the surgeon to undertake an operation with foreknowledge of the pancreas that will help him select the correct procedure to alleviate the patient's symptoms.

Angiography↗
PubMed1979

Ophthalmic ultrasound as a diagnostic tool.

Ophthalmic ultrasound is a diagnostic technique which has a clinical utility in ocular distance measurements and in the evaluation of the structural integrity of eyes with translucent or opaque media. This article summarizes briefly the principles of ultrasonography, available instrumentation and clinical applications.

Evaluation Studies as Topic↗
PubMed1979

133Xenon washout in the paranasal sinuses--a diagnostic tool for assessing ostial function.

A 133Xenon washout test is presented and interpreted. It was developed on the basis of studies into the accumulation of aerosols of different makes (lithium chloride in the form of ultrasonic, vibratory and pressurized aerosols) in the paranasal sinuses and sequential scintigraphy with radioactively labeled aerosols (99m Technetium colloidal sulfur) and is designed to shed light on the gas exchange in the paranasal sinuses and the patency of their orifices. The test constitutes a valuable addition to the battery of diagnostic tools for assessing paranasal sinus function and, at the same time, documents the true value of aerosol therapy.

Frontal Sinus↗
PubMed1979

Adaptive Behavior Scale: development as a diagnostic tool via discriminant analysis.

The multidimensional nature of behavior often causes a dilemma for the diagnostician who must interpret inconsistent behavior. Three classifications of 6- through 12-year-old children were evaluated on the public school version of the Adaptive Behavior Scale by their teachers. Of the 388 nonretarded, 115 EMR, and 85 TMR children, 86 percent were correctly identified via 12-variable classification functions. The results indicate that further development of an adaptive behavior instrument would be desirable as a cost-efficient and powerful diagnostic tool.

Child↗
PubMed1979

Freeze-fracture analysis of intramembrane particles of erythrocytes from normal, dystrophic, and carrier mice. A possible diagnostic tool for detection of carriers of human muscular dystrophy.

Careful examination of plasma membrane protein particles on fractures faces of erythrocyte plasma membranes from mice with muscular dystrophy, carriers of the sex-linked recessive gene for this disease, and from nondystrophic control animals revealed a 42% decrease in the number of intramembrane particles in erythrocytes of carriers (and a 33% decrease in dystrophic erythrocytes) compared with samples from control animals. These results support the notion that quantitative analysis of intramembrane particles in freeze-fractured erythrocyte plasma membranes may represent a new, rapid, simple, and highly accurate diagnostic tool for detection of carriers of human muscular dystrophy.

Animals↗
PubMed1977

Value of ultrasound as a presurgical diagnostic tool in Obstetrics and Gynecology.

Although relatively new, diagnostic ultrasound is an important part of the surgeon's armamentarium in preoperative diagnosis and patient preparation. In the field of gynecology, it is possible to differentiate between solid and cystic tumors, measure the extent of tumors in the pelvis and abdomen, define normal structures in relationship to pathologic changes and diagnose and follow patients with malignant disease. In obstetrics, ultrasound has proved effective in the evaluation of the fetus and detection of obstetric problems such as estimation of fetal weight and gestational age, diagnosis of placenta previa, hydatidiform mole and missed and incomplete abortions.

Ascites↗
PubMed2025

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.

BACKGROUND/OBJECTIVES: Hearing loss (HL) is one of the most common congenital disorders, affecting 1-2 in 1,000 newborns. Modern genetic diagnostics using large gene panels and/or whole exome analysis (WES) can identify disease-causing mutations in 25-50 % of patients, with higher solve rates in individuals with earlier onset. RESULTS: Here, we used whole-genome sequencing (WGS) to reanalyze 14 index patients/families who remained without genetic diagnosis by WES. We were able to identify the genetic cause of HL in 6 families (43 %). Two families were diagnosed with DFNB84A caused by compound heterozygous recessive mutations in PTPRQ. Three of the four underlying variants, including a structural variant, a deep intronic variant, and a splice variant, escaped detection by WES. Minigene assays confirmed the pathogenicity of the intronic and the splice variants. In addition, we used protein 3D structure prediction and rigid ligand docking to study the pathogenicity of variants that escape nonsense-mediated decay. CONCLUSION: In our study, we present four novel variants in PTPRQ, three of which were detected only by WGS. To our knowledge, we report here the first pathogenic deep intronic PTPRQ variant causing HL. Our results suggest that the mutational spectrum of PTPRQ is not well covered by standard WES and that PTPRQ-associated hearing loss may be more frequent than previously thought. WGS provides an additional layer of information in the diagnostics of HL.

Humans↗
PubMed2026

Methylome Profiling of Cartilage Tumors: A Promising New Diagnostic Tool?

DNA methylation and copy number variation (CNV) profiling has emerged as a promising tool for the classification of bone and soft tissue tumors. We evaluated its utility in cartilage tumors, where distinguishing low-grade from high-grade conventional central chondrosarcomas (CSs) and atypical cartilaginous tumors (ACTs) from enchondromas (ECs) is a frequent diagnostic challenge, particularly on biopsy material. We analyzed 214 chondrogenic tumors, including ECs, ACTs, conventional CSs, dedifferentiated chondrosarcomas (DDCSs), and clear cell CSs, and determined their IDH1/2 mutation status. Unsupervised dimensionality reduction of genome-wide DNA methylation patterns revealed 4 clusters among IDH-mutant (MUT) tumors (IDH-MUT-1: mostly ECs and ACTs and some high-grade CSs; IDH-MUT-2: predominantly high-grade CSs; IDH-MUT-3: largely DDCSs; and IDH-MUT-SB: distinct skull base group with a markedly different methylation pattern) and 2 clusters among IDH-wild-type (WT) tumors (IDH-WT-1 and IDH-WT-2: both primarily high-grade CSs, with IDH-WT-2 showing higher tumor grade and more extensive CNVs). Clear cell CSs formed a separate cluster. The amount of CNVs, including loss of CDKN2A, increased with tumor grade, reflecting increased genomic instability during chondrosarcoma progression. Supervised classifiers trained separately, both on methylation and CNV data, and distinguished low-grade and high-grade cartilaginous tumors with area under the curve values of 0.87 to 0.97 and 85% to 90% accuracy. Furthermore, we tested whether DDCSs can be distinguished from metastatic carcinomas and other high-grade sarcomas of the bone. Across 246 reference samples, a supervised classifier achieved 97.2% accuracy (area under the curve, 99.8%) and correctly identified 30 of 32 DDCSs (93.8%). These results indicate that DNA methylation and CNV data analysis provide a valuable tool for distinguishing most low- and high-grade CSs, with additional utility also in differentiating DDCS from morphologic mimics.

cartilaginous tumors↗
PubMed1977

Alanine inhibition of pyruvate kinase in gliomas and meningiomas. A diagnostic tool in surgery for gliomas?

In gliomas a shift was found in the composition of enzymes, manifested by abnormal inhibition of pyruvate kinase by alanine. This study demonstrates the appearance of the MII-type isoenzyme in various gliomas. This MII type is also found in meningiomas but not in normal brain tissue. The method of enzyme examination described may be valuable as a diagnostic aid in the surgery of gliomas.

Alanine↗
PubMed1977

Trace element analysis: a diagnostic tool.

Human body continuously assimilates a variety of elements from the environment and the concentration of these elements in blood is regulated by means of various homeostatic mechanisms. Some of the elements, though present in very small amounts perform highly specialized functions in initiating many biochemical reactions. These elements, known as essential trace elements, are closely related to human diseases as their deficiency or excess induces physiological changes. Many diseases such as hypertension, atherosclerosis, diabetes etc are related to trace element imbalance. Therefore the measurement of trace elements in body fluids and tissues can be effectively employed for diagnostic tests.

Animals↗
PubMed2025

Optical Genome Mapping Is a Powerful Diagnostic Tool in Non-Hodgkin Lymphoma.

Non-Hodgkin lymphoma (NHL) is a diverse and heterogeneous group of hematological malignancies. These lymphomas arise from the clonal proliferation of either B/T or natural killer lymphocytes, and their correct classification relies partly on identifying characteristic structural variants and copy number alterations. Current standard-of-care technologies for detecting these genomic features, chromosome banding analysis (CBA) and fluorescent in situ hybridization (FISH), are labor intensive and have specific limitations. CBA has low resolution and relies on viable cell culture, whereas the targeted approach of FISH does not provide the whole genome view required for comprehensive disease characterization. This highlights the need for higher-resolution nontargeted genomic methods. Previous studies have evaluated optical genome mapping (OGM) as a whole genome alternative for cytogenomic characterization in NHL diagnostics but were restricted in number and to cases with peripheral blood and/or bone marrow invasion. Here, we selected a comprehensive cohort of 110 NHL cases (79 B-NHL and 31 T-NHL/natural killer-NHL) derived from different types of tissue biopsies, all with established histopathological diagnoses. Seventy-eight samples were genomically well characterized at diagnosis by CBA and FISH. The remaining 32 cases were included because of previous CBA failure, although FISH data were available for 20 cases. OGM provided informative results in 94% of the cohort, with a high concordance rate of 97.6% compared with CBA/FISH in detecting clinically relevant aberrations. The 2 variants that were missed were both present at the detection threshold of OGM. In contrast, OGM successfully resolved 26 samples with previous CBA failure and detected 3 additional disease-defining events, resulting in diagnostic reclassification of 1 patient. Finally, OGM identified novel recurrent aberrations that warrant further investigation into their pathogenetic implications. To conclude, OGM robustly detects clinically relevant structural variants and copy number alterations and presents a promising alternative to CBA and FISH in routine diagnostic evaluation of NHL.

Humans↗
PubMed1979

Cell surface glycoprotein analysis: a diagnostic tool in human leukemias.

We have radiolabelled surface glycoproteins of different types of leukemic cell. The labelled proteins were separated by polyacrylamide slab gel electrophoresis and visualized by fluorography. Surface glycoprotein patterns discriminatory for acute lymphocytic leukemia (ALL), chronic lymphocytic leukemia (CLL), acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) were found. We conclude that the analysis of the surface glycoprotein profile provides a useful method for the classification of leukemic cells according to cell type and stage of differentiation.

Adult↗
PubMed1979

Experimental murine amyloidosis: experience with Candida albicans as an amyloidogenic agent and liver biopsy as a diagnostic tool.

We describe a method of inducing experimental amyloidosis in mice using injections of Candida albicans. Both viable and non-viable Candida produced amyloid and we compare the results with each method. Diagnosis was by liver biopsy, a technique of value in assessing the natural history of the disease. Once the amyloid had been induced, the disease always progressed until the animals died of generalised amyloidosis. This experimental model should, therefore, be suitable to use in assessing the treatment of amyloidosis.

Amyloidosis↗
PubMed1978

[Is creatine kinase isoenzyme CK-MB a diagnostic tool for perioperative myocardial infarctions? (author's transl)].

There is still controversy of the validity of elevated CK-MB serum activity in the diagnosis of perioperative myocardial infarction after open heart surgery. CK-MB activity was investigated using myocardial and skeletal muscle biopsies and in sera postoperatively in 192 patients. In biopsies CK-MB fraction of total myocardial CPK was 37%, the total-CPK activity of human skeletal muscles still shows a 5% fraction of CK-MB. There has to be more than 8% CK-MB fraction of total CPK-serum-activity to take this as evidence of myocardial damage. 3 h postoperatively enzymatic-immunologic CK-MB test is no longer interfered by enzymes derived from hemolyzed erythrocytes. In patients without signs of myocardial lesions postoperatively mean CK-MB-activity is 11 to 27 U/1 depending on the operative procedure performed. Activity levels exceeding 50 U/1 are almost evident of myocardial infarction. Elevated CK-MB-serum activity is a sensitive parameter for myocardial lesions overestimating an event of infarction. It is a helpful tool diagnosing perioperative myocardial infarction.

Cardiac Surgical Procedures↗