Biomarkers for mitochondrial energy metabolism diseases

2018 ◽  
Vol 62 (3) ◽  
pp. 443-454 ◽  
Author(s):  
Sara Boenzi ◽  
Daria Diodato
Keyword(s):  
Diagnostic Algorithm ◽  
Mitochondrial Respiratory Chain ◽  
Response To Treatment ◽  
Fibroblast Growth Factor 21 ◽  
Disease Group ◽  
Diagnostic Challenge ◽  
Mitochondrial Energy Metabolism ◽  
Lactate And Pyruvate ◽  
Urine Organic Acids

Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a ‘biosignature’ for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.

Struma Ovarii: Clinico-Morphological Features and Therapeutic Experience of a Romanian Institution over 20 Years

2021 ◽  
Vol 11 (20) ◽  
pp. 9427
Author(s):  
Mihaela Camelia Tîrnovanu ◽  
Vlad Gabriel Tîrnovanu ◽  
Bogdan Florin Toma ◽  
Elena Cojocaru ◽  
Carmen Ungureanu ◽  
...  
Keyword(s):  
Rare Condition ◽  
Diagnostic Algorithm ◽  
Complete Information ◽  
Published Data ◽  
Struma Ovarii ◽  
Therapeutic Approaches ◽  
Diagnostic Challenge ◽  
Benign Ovarian Tumors ◽  
The Right ◽  
Clinical Conditions

Struma ovarii is a rare condition with scarce published data regarding clinical, morphological, and therapeutic approaches. This study reports the experience of 25 patients with struma ovarii who received surgical treatment in a gynecology department in Romania. The study was conducted from January 1999 to September 2021 and included patients with confirmed struma ovarii whose medical records were retrospectively reviewed and evaluated. Struma ovarii represented 2.8% of the total number of benign ovarian tumors treated by surgery. The age of the patients was between 24 and 71 years. The tumor was unilateral in 24 cases, 13 cases on the left ovary, 11 on the right side, and bilateral in 1 case. Tumor dimensions ranged between 1 cm and 20 cm. In two cases, the patients had symptoms of hyperthyroidism. The procedure was performed on four women for diagnoses other than an ovarian tumor. In another five situations, there was suspicion of ovarian malignancy. In addition, struma ovarii was associated with other clinical conditions in 22 cases. These lesions represent a diagnostic challenge with heterogeneous clinical and imaging manifestations. Complete information of clinical, morphologic, and surgical findings may improve the diagnostic algorithm and better predict patient outcomes.

scholarly journals Validation and Implementation of a Diagnostic Algorithm for DNA Detection ofBordetella pertussis,B. parapertussis, andB. holmesiiin a Pediatric Referral Hospital in Barcelona, Spain

2018 ◽  
Vol 57 (1) ◽  
Author(s):  
Ana Valero-Rello ◽  
Desiree Henares ◽  
Lesly Acosta ◽  
Mireia Jane ◽  
Iolanda Jordan ◽  
...  
Keyword(s):  
Internal Control ◽  
Whooping Cough ◽  
Diagnostic Algorithm ◽  
Clinical Samples ◽  
Analytical Validation ◽  
Content Type ◽  
Detection And Identification ◽  
Ofbordetella Pertussis ◽  
Lower Limits

ABSTRACTThis study aimed to validate a comprehensive diagnostic protocol based on real-time PCR for the rapid detection and identification ofBordetella pertussis,Bordetella parapertussis, andBordetella holmesii, as well as its implementation in the diagnostic routine of a reference children’s hospital. The new algorithm included a triplex quantitative PCR (qPCR) targeting IS481gene (inB. pertussis,B. holmesii, and someBordetella bronchisepticastrains), pIS1001(B. parapertussis-specific) andrnaseP as the human internal control. Two confirmatory singleplex tests forB. pertussis(ptxA-Pr) andB. holmesii(hIS1001) were performed if IS481was positive. Analytical validation included determination of linear range, linearity, efficiency, precision, sensitivity, and a reference panel with clinical samples. Once validated, the new algorithm was prospectively implemented in children with clinical suspicion of whooping cough presenting to Hospital Sant Joan de Deu (Barcelona, Spain) over 12 months. Lower limits of detection obtained were 4.4, 13.9, and 27.3 genomic equivalents/ml of sample for IS481(onB. pertussis), pIS1001and hIS1001, and 777.9 forptxA-Pr. qPCR efficiencies ranged from 86.0% to 96.9%. Intra- and interassay variabilities were <3% and <5%, respectively. Among 566 samples analyzed,B. pertussis,B. holmesii, andB. parapertussiswere detected in 11.1%, 0.9% (only in females >4 years old), and 0.2% of samples, respectively. The new algorithm proved to be a useful microbiological diagnostic tool for whooping cough, demonstrating a low rate of other non-pertussisBordetellaspecies in our surveilled area.

scholarly journals Histamine Intolerance in Children

2021 ◽  
Author(s):  
Wojciech Nazar ◽  
Katarzyna Plata-Nazar ◽  
Katarzyna Sznurkowska ◽  
Agnieszka Szlagatys-Sidorkiewicz
Keyword(s):  
Diamine Oxidase ◽  
Treatment Options ◽  
Gastrointestinal Symptoms ◽  
Diagnostic Algorithm ◽  
Diagnostic Challenge ◽  
Male Predominance ◽  
Provocation Tests ◽  
Histamine Intolerance ◽  
Bowel Diseases ◽  
Positive Results

Histamine intolerance is defined as disequilibrium of accumulated histamine and the capacity for histamine degradation. This clinical term addresses a non-immunologically mediated pathology when histamine ingested with food is not particularly high, but its degradation is decreased. Clinical picture of histamine intolerance in children is similar to that observed in adults apart from male predominance found in paediatric patients. Both in children and adults, histamine-free diet seems to be the treatment of choice. Diamine oxidase supplementation offers another treatment option. There is no symptom and\or test pathognomonic for histamine intolerance. Nevertheless, manifestations of chronic gastrointestinal symptoms, measurement of diamine oxidase deficits, positive results of histamine provocation tests and improvement of symptoms with histamine-free diet greatly increase the probability of histamine intolerance diagnosis. These factors have been included in the proposed in this paper diagnostic algorithm for histamine intolerance. In children histamine intolerance probably co-occur with allergies and bowel diseases, which creates an additional diagnostic challenge. As the evidence for children is weak, further research is needed the establish epidemiology, validate diagnostic algorithms and establish possible treatment options regarding histamine intolerance.

scholarly journals Magnetic resonance imaging of the cirrhotic liver: diagnosis of hepatocellular carcinoma and evaluation of response to treatment – Part 2

2017 ◽  
Vol 50 (2) ◽  
pp. 115-125 ◽  
Author(s):  
Miguel Ramalho ◽  
António P. Matos ◽  
Mamdoh AlObaidy ◽  
Fernanda Velloni ◽  
Ersan Altun ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hepatocellular Carcinoma ◽  
Magnetic Resonance ◽  
Diagnostic Algorithm ◽  
Response To Treatment ◽  
Locoregional Therapy ◽  
Liver Imaging ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri

Abstract In the second part of this review, we will describe the ancillary imaging features of hepatocellular carcinoma (HCC) that can be seen on standard magnetic resonance imaging (MRI) protocol, and on novel and emerging protocols such as diffusion weighted imaging and utilization of hepatocyte-specific/hepatobiliary contrast agent. We will also describe the morphologic sub-types of HCC, and give a simplified non-invasive diagnostic algorithm for HCC, followed by a brief description of the liver imaging reporting and data system (LI-RADS), and MRI assessment of tumor response following locoregional therapy.

Noninvasive Tests in the Assessment of NASH and NAFLD Fibrosis: Now and Into the Future

2020 ◽  
Vol 40 (04) ◽  
pp. 331-338
Author(s):  
Leon A. Adams ◽  
Wah-Kheong Chan
Keyword(s):  
Fatty Liver Disease ◽  
Serum Markers ◽  
Response To Treatment ◽  
Noninvasive Methods ◽  
Nonalcoholic Fatty Liver ◽  
Imaging Methods ◽  
The Future ◽  
Direct Measures ◽  
Noninvasive Tests

AbstractNoninvasive serum and imaging methods offer accessible, accurate, and safe assessment of fibrosis severity in nonalcoholic fatty liver disease. In contrast, current serum and imaging methods for the prediction of nonalcoholic steatohepatitis are not sufficiently accurate for routine clinical use. Serum fibrosis markers that incorporate direct measures of fibrogenesis (for example, hyaluronic acid) or fibrinolysis are generally more accurate than biomarkers not incorporating direct measures of fibrogenesis. Elastography methods are more accurate than serum markers for fibrosis assessment and particularly for the determination of cirrhosis, but have a significant failure and/or unreliability rate in obese individuals. To overcome this, combining serum and elastography methods in a sequential manner minimizes indeterminate results and maintains accuracy. The accuracy of current noninvasive methods for monitoring fibrosis response to treatment are limited; however, new tools derived from “omic” methodologies offer promise for the future.

scholarly journals The structural organization of haem synthesis in rat liver mitochondria

1969 ◽  
Vol 113 (3) ◽  
pp. 507-514 ◽  
Author(s):  
M. S. Jones ◽  
O. T. G. Jones
Keyword(s):  
Ultrasonic Treatment ◽  
Mitochondrial Respiratory Chain ◽  
Liver Mitochondria ◽  
Rat Liver Mitochondria ◽  
Outer Membranes ◽  
Soluble Cell ◽  
Cell Components ◽  
Cobalt Protoporphyrin ◽  
Continuous Assay

1. Anaerobic conditions are normally necessary for incorporation of iron into haems and only ferrous iron is used. After addition of succinate to an incubation mixture containing intact or ultrasonically treated mitochondria, Fe3+ is used, but only if no inhibitors prevent the transfer of electrons from the mitochondrial respiratory chain to oxygen. 2. A dual-wavelength spectrophotometric assay for ferrochelatase is described that has been used for the continuous assay of incorporation of metal ions into porphyrins. Constants are given for the determination of rates of formation of protohaem and cobalt protoporphyrin, mesohaem, cobalt mesoporphyrin and zinc mesoporphyrin. For cobalt mesoporphyrin formation the Km for Co2+ is 11×10−6m and that for mesoporphyrin is 5×10−6m. 3. An improved method for the separation of inner and outer membranes of mitochondria is described. Mitochondria swollen in hypo-osmotic media were contracted in hyperosmotic potassium chloride solution containing ATP and the outer membranes detached by mild ultrasonic treatment. Sucrose inhibited the ATP-induced contraction and decreased the yield of outer membranes. 4. Ferrochelatase is associated with cytochrome oxidase, which is used as a marker for inner mitochondrial membranes. 5. By using as substrate porphyrin dissolved in phospholipid micelles, ferrochelatase activity of intact mitochondria was shown to be latent, and to be liberated by ultrasonic treatment. 6. No ferrochelatase was detectable in microsomes or soluble cell components.

scholarly journals The approach to a neonate with suspected intestinal obstruction: the pediatric surgical perspective

2019 ◽  
Vol 6 (11) ◽  
pp. 4198
Author(s):  
Vivek Parameswara Sarma ◽  
Sunil S. Menon
Keyword(s):  
Physical Examination ◽  
Intestinal Obstruction ◽  
Bowel Obstruction ◽  
Diagnostic Algorithm ◽  
Contrast Imaging ◽  
Diagnostic Challenge ◽  
New Born ◽  
Paediatric Surgeon ◽  
Timely Diagnosis ◽  
Distal Bowel

In this article, the possible pitfalls while evaluating a new-born with intestinal obstruction are reviewed and a diagnostic algorithm is proposed. The difficulties include the finding of an otherwise well child in most of the surgical problems and the fact that many signs are subtle. The diagnosis of distal bowel obstruction rests on proper radiological interpretation. The new-born with features of intestinal obstruction poses a diagnostic challenge to the neonatologist and paediatric surgeon. But, the systematic interpretation of history, physical examination, radiograph and contrast imaging in select cases will enable a proper and timely diagnosis. 

scholarly journals Spine Myeloid Sarcoma: A Case Series with Review of Literature

2021 ◽  
Vol 10 (04) ◽  
pp. 251-254
Author(s):  
Kajal Shah ◽  
Harsha Panchal ◽  
Apurva Patel
Keyword(s):  
Myeloid Leukemia ◽  
De Novo ◽  
Correct Diagnosis ◽  
Relevant Literature ◽  
Bone Marrow Involvement ◽  
Case Series ◽  
Diagnostic Algorithm ◽  
Myeloid Sarcoma ◽  
Diagnostic Challenge ◽  
Extramedullary Tumor

AbstractMyeloid sarcoma (MS) is a malignant extramedullary tumor consisting of immature cells of myeloid origin. It may precede, present concurrently or follow acute myeloid leukemia (AML) in de novo case or may also be present and might be the only manifestation of recurrent AML, myelodysplastic syndrome, or chronic myeloid leukemia. It frequently involves skin, orbit, bone, periosteum, lymph nodes, and gastrointestinal tract, soft tissue, central nervous system, and testis. Because of its different localization and symptoms, and the lack of diagnostic algorithm, MS is a real diagnostic challenge particularly in patients without initial bone marrow involvement. The correct diagnosis of MS is important for optimum therapy, which is often delayed because of a high misdiagnosis rate. We reported three cases of MS derived from spine presented with back pain, paraplegia, paraparesis, respectively, and reviewed the relevant literature.

scholarly journals Ultrasound steatometry in patients with non-alcoholic fatty liver disease: pilot results

2019 ◽  
Vol 10 (1) ◽  
pp. 23-29
Author(s):  
Darya Yu. Venidiktova ◽  
Alexey V. Borsukov ◽  
Anna V. Alipenkova ◽  
Alina V. Eremkina ◽  
Anton O. Tagil ◽  
...  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Diagnostic Algorithm ◽  
Information Value ◽  
Ultrasound Measurement ◽  
Alcoholic Fatty Liver ◽  
The Metabolic Syndrome ◽  
Alcoholic Fatty Liver Disease

Objective. To evaluate the effectiveness of the ultrasound steatometry technique in patients with non-alcoholic fatty liver disease. Materials and methods. 68 patients aged 19–62 years (median age 40.5 years) were examined, 30 men (44.1%) and 38 women (55.9%), who underwent a single diagnostic algorithm of 7 (8) stages: questioning, clinical examination, noninvasive bioimpedance, biochemical blood test, liver ultrasound in B-mode, determination of hepatorenal index, ultrasound steatometry, liver biopsy. Results. In 4 patients (5.88%), a remote clinical picture of the metabolic syndrome, fatty liver infiltration was diagnosed. Signs of steatohepatitis were present in 19 (27.9%) patients, signs of cirrhosis — in 2 (2.9%). The sensitivity and specificity were 60.3% and 72.6%, respectively, for the B-mode, 44.3% and 51.9%, respectively, for the ultrasound measurement of the hepatorenal index, 90.6% and 92.2%, respectively, for ultrasonic steatometry. Conclusion. Ultrasound steatometry is an informative method for screening of patients with non-alcoholic fatty liver disease. Correlation (r) of the ultrasound diagnosis of steatosis with biopsy at the stage S0 corresponds to 0.81, at the stage S1 — to 0.68, at the stage S2 — to 0.74, at the stage S3 — to 0.88, that indicates a high information value of this method.

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