Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

2021 ◽  
pp. jmedgenet-2021-107823
Author(s):  
Pauline Le Tanno ◽  
Xenia Latypova ◽  
John Rendu ◽  
Julien Fauré ◽  
Véronique Bourg ◽  
...  
Keyword(s):  
University Hospital ◽  
Diagnostic Process ◽  
Arthrogryposis Multiplex Congenita ◽  
Non Invasive ◽  
Reference Centre ◽  
Paediatric Age ◽  
Set Up ◽  
Aetiological Diagnosis ◽  
Gathering Data ◽  
Generation Sequencing

IntroductionArthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological diagnosis challenging. The objective of this work was to set up evidence-based recommendations for the diagnosis of AMC by taking advantage of both data from our nation-wide cohort of children with AMC and from the literature.Material and methodsWe conducted a retrospective single-centre observational study. Patients had been evaluated at least once at a paediatric age in the AMC clinic of Grenoble University Hospital between 2007 and 2019. After gathering data about their diagnostic procedure, a literature review was performed for each paraclinical investigation to discuss their relevance.ResultsOne hundred and twenty-five patients were included, 43% had Amyoplasia, 27% had distal arthrogryposis and 30% had other forms. A definitive aetiological diagnosis was available for 66% of cases. We recommend a two-time diagnostic process: first, non-invasive investigations that aim at classifying patients into one of the three groups, and second, selected investigations targeting a subset of patients.ConclusionThe aetiological management for patients with AMC remains arduous. This process will be facilitated by the increasing use of next-generation sequencing combined with detailed phenotyping. Invasive investigations should be avoided because of their limited yield.

Acute abdomen in pregnancy: a retrospective study of pregnant patients hospitalised for abdominal pain

2020 ◽  
Vol 99 (3) ◽  
pp. 131-135
Keyword(s):  
Abdominal Pain ◽  
Clinical Signs ◽  
University Hospital ◽  
Diagnostic Process ◽  
Abdominal Emergency ◽  
Lower Abdominal Quadrant ◽  
Abdominal Emergencies ◽  
The Right ◽  
Abdominal Quadrant ◽  
In Pregnancy

Introduction: Abdominal emergencies occur in pregnant women with the rate of 1:500−635 pregnancies. Such conditions usually develop from full health and worsen rapidly. Symptoms are often similar to those in physiological pregnancy (abdominal pain, vomiting, constipation). The diagnostic process is thus difficult and both the mother and her child are at risk. Our aim was to evaluate the frequency of abdominal emergencies in the Department of Surgery, University Hospital in Pilsen and to consider their impact on pregnancy and on the newborn. Methods: We acquired a set of patients by retrograde collection of data. We searched for pregnant patients suspected of developing an abdominal emergency admitted to the Department of Surgery, Faculty of Medicine, Pilsen between 2004 and 2015. We evaluated a number of clinical signs to statistically describe the set. Results: The set included 121 patients; 42 of the patients underwent a surgical procedure and 79 received conservative treatment. 38 patients underwent appendectomy; 6 appendixes were with no pathologies. McBurney’s incision was an approach of choice in most cases. The most frequent symptom was pain in the right lower abdominal quadrant. The foetus has been lost in none of the cases. Conclusion: Acute appendicitis was the most frequent abdominal emergency in our set and also the most frequent reason for surgical intervention. The most specific sign was pain in the right lower abdominal quadrant. No impact of appendicitis or appendectomy on the health of the newborn has been observed. Even though abdominal emergencies in pregnancy are relatively rare, the results of the department are very good.

scholarly journals COVID-19 does not stop obstetrics: what we need to change to go on safely birthing. The experience of a University Obstetrics and Gynecology Department in Milan

2020 ◽  
Vol 48 (9) ◽  
pp. 997-1000
Author(s):  
Nikita Alfieri ◽  
Stefano Manodoro ◽  
Anna Maria Marconi
Keyword(s):  
Health System ◽  
University Hospital ◽  
Obstetrics And Gynecology ◽  
Daily Routine ◽  
Clinical Services ◽  
Wuhan City ◽  
Set Up

AbstractSince SARS-COV-2 appeared in Wuhan City, China and rapidly spread throughout Europe, a real revolution occurred in the daily routine and in the organization of the entire health system. While non-urgent clinical services have been reduced as far as possible, all kind of specialists turned into COVID-19 specialists. Obstetric assistance cannot be suspended and, at the same time, safety must be guaranteed. In addition, as COVID-19 positive pregnant patients require additional care, some of the clinical habits need to be changed to face emerging needs for a vulnerable but unstoppable kind of patients. We report the management set up in an Obstetrics and Gynecology Unit during the COVID-19 era in a University Hospital in Milan, Italy.

scholarly journals COT-04 Circulating biomarker for glioblastoma and primary central nervous system lymphoma -Next Generation Sequencing of small noncoding RNA-

2020 ◽  
Vol 2 (Supplement_3) ◽  
pp. ii21-ii21
Author(s):  
Shumpei Onishi ◽  
Fumiyuki Yamasaki ◽  
Motoki Takano ◽  
Ushio Yonezawa ◽  
Kazuhiko Sugiyama ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Noncoding Rna ◽  
Central Nervous System Lymphoma ◽  
Serum Samples ◽  
Small Noncoding Rna ◽  
Non Invasive ◽  
Diagnostic Models ◽  
Healthy Control ◽  
Generation Sequencing

Abstract Objective: Glioblastoma (GBM) and Primary Central Nervous System Lymphoma (PCNSL) are common intracranial malignant tumors. They sometimes present similar radiological findings and diagnoses could be difficult without surgical biopsy. For improving the current management, development of non-invasive biomarkers are desired. In this study, we explored the differently expressed circulating small noncoding RNA (sncRNA) in serum for specific diagnostic tool of GBM and PCNSL. Material & Methods: Serum samples were obtained from three groups: 1) GBM patients (N=26), 2) PCNSL patients (N=14) 3) healthy control (N=114). The total small RNAs were extracted from serum. The whole expression profiles of serum sncRNAs were measured using Next-Generation Sequencing System. We analyzed serum levels of sncRNAs (15–55 nt) in each serum samples. The difference of sncRNAs expression profile among three groups were compared. Data analysis was performed by logistic regression analysis followed by leave-one-out cross-validation (LOOCV). The accuracy of diagnostic models of sncRNAs combination were evaluated by receiver operating characteristic (ROC) analysis. Results: We created the combination models using three sncRNA in each models based on the logistic regression analysis. The model 1 (based on sncRNA-X1, X2 and X3) enabled to differentiate GBM patients form healthy control with a sensitivity of 92.3% and a specificity of 99.2% (AUC: 0.993). The model 2 (based on sncRNA-Y1, Y2 and Y3) enabled to differentiate PCNSL patients form healthy control with a sensitivity of 100% and a specificity of 93.9% (AUC: 0.984). The model 3 (based on sncRNA-Z1, Z2 and Z3) enabled to differentiate GBM patients form PCNSL patients with a sensitivity of 92.3% and a specificity of 78.6% (AUC: 0.920). Conclusion: We found three diagnostic models of serum sncRNAs as non-invasive biomarkers potentially useful for detection of GBM and PCNSL from healthy control, and for differentiation GBM from PCNSL.

scholarly journals 670. Rapid, Non-invasive Detection of Invasive Mycoplasma hominis Infection using the Karius Test, A Next-Generation Sequencing Test for Microbial Cell-free DNA in Plasma

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S390-S390
Author(s):  
Priya Edward ◽  
William V La Via ◽  
Mehreen Arshad ◽  
Kiran Gajurel
Keyword(s):  
Next Generation Sequencing ◽  
Case Series ◽  
Mycoplasma Hominis ◽  
Microbial Cell ◽  
Next Generation ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Hominis Infection ◽  
Generation Sequencing

Abstract Background Mycoplasma hominis is typically associated with genital infections in women and is a rare cause of musculoskeletal infections often in immunocompromised hosts. Diagnosis of invasive Mycoplasma hominis infections are difficult due to challenges in culturing these organisms. Molecular diagnostics require an index of suspicion which may not be present at the time of tissue sampling. Accurate, rapid diagnosis of Mycoplasma hominis infections are important for antibiotic management. Methods Two cases of invasive Mycoplasma hominis infections are presented in which the Karius test (KT) was used to make the diagnosis. The KT is a CLIA certified/CAP-accredited next-generation sequencing (NGS) plasma test that detects microbial cell-free DNA (mcfDNA). After mcfDNA is extracted and NGS performed, human reads are removed and remaining sequences are aligned to a curated database of > 1400 organisms. Organisms present above a statistical threshold are reported. Case review was performed for clinical correlation. Results A young woman with lupus nephritis status post renal transplant developed persistent fever with progressive multifocal culture-negative osteoarticular infection despite empiric ceftriaxone. An adolescent female presented with an ascending pelvic infection progressing to purulent polymicrobial peritonitis (see table) requiring surgical debridement and cefipime, metronidazole and micafungin therapy; her course was complicated by progressive peritonitis/abscesses. Karius testing detected high-levels of Mycoplasma hominis mcfDNA in both cases – at 3251 molecules/microliter (MPM) in the first case and 3914 MPM in the second case. The normal range of Mycoplasma hominis mcfDNA in a cohort of 684 normal adults is 0 MPM. The patients rapidly improved with atypical coverage with doxycycline and levofloxaxin. Clinical findings in 2 patients with M. hominis infection detected by the Karius Test Conclusion Open-ended, plasma-based NGS for mcfDNA provides a rapid, non-invasive method to diagnose invasive Mycoplasma hominis infection. This case series highlights the potential to diagnose infections caused by fastidious pathogens to better inform antimicrobial therapy and achieve favorable outcomes. Disclosures William V. La Via, MD, Karius (Employee)

scholarly journals Hydraulic insertions of cochlear implant electrode arrays into the human cadaver cochlea: preliminary findings

2021 ◽  
Author(s):  
M. Geraldine ◽  
Thomas Lenarz ◽  
Thomas S. Rau
Keyword(s):  
Cochlear Implant ◽  
Outcome Measurement ◽  
Round Window ◽  
Handling Time ◽  
Human Cadaver ◽  
Hydraulic Actuator ◽  
Electrode Arrays ◽  
Non Invasive ◽  
Insertion Tool ◽  
Set Up

Abstract Objectives (1) To evaluate the feasibility of a non-invasive, novel, simple insertion tool to perform automated, slow insertions of cochlear implant electrode arrays (EA) into a human cadaver cochlea; (2) to estimate the handling time required by our tool. Methods Basic science study conducted in an experimental OR. Two previously anonymized human cadaver heads, three commercially available EAs, and our novel insertion tool were used for the experiments. Our tool operates as a hydraulic actuator that delivers an EA at continuous velocities slower than manually feasible. Intervention(s): the human cadaver heads were prepared with a round-window approach for CI surgery in a standard fashion. Twelve EA insertion trials using our tool involved: non-invasive fixation of the tool to the head; directing the tool to the round window and EA mounting onto the tool; automated EA insertion at approximately 0.1 mm/s driven by hydraulic actuation. Outcome measurement(s): handling time of the tool; post-insertion cone-beam CT scans to provide intracochlear evaluation of the EA insertions. Results Our insertion tool successfully inserted an EA into the human cadaver cochlea (n = 12) while being attached to the human cadaver head in a non-invasive fashion. Median time to set up the tool was 8.8 (7.2–9.4) min. Conclusion The first insertions into the human cochlea using our novel, simple insertion tool were successful without the need for invasive fixation. The tool requires < 10 min to set up, which is clinically acceptable. Future assessment of intracochlear trauma is needed to support its safety profile for clinical translation.

scholarly journals Panel of serum miRNAs as potential non-invasive biomarkers for pancreatic ductal adenocarcinoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Imteyaz Ahmad Khan ◽  
Safoora Rashid ◽  
Nidhi Singh ◽  
Sumaira Rashid ◽  
Vishwajeet Singh ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pancreatic Ductal Adenocarcinoma ◽  
Early Stage ◽  
Ductal Adenocarcinoma ◽  
Next Generation ◽  
Serum Samples ◽  
Tissue Samples ◽  
Non Invasive ◽  
Specific Symptoms ◽  
Generation Sequencing

AbstractEarly-stage diagnosis of pancreatic ductal adenocarcinoma (PDAC) is difficult due to non-specific symptoms. Circulating miRNAs in body fluids have been emerging as potential non-invasive biomarkers for diagnosis of many cancers. Thus, this study aimed to assess a panel of miRNAs for their ability to differentiate PDAC from chronic pancreatitis (CP), a benign inflammatory condition of the pancreas. Next-generation sequencing was performed to identify miRNAs present in 60 FFPE tissue samples (27 PDAC, 23 CP and 10 normal pancreatic tissues). Four up-regulated miRNAs (miR-215-5p, miR-122-5p, miR-192-5p, and miR-181a-2-3p) and four down-regulated miRNAs (miR-30b-5p, miR-216b-5p, miR-320b, and miR-214-5p) in PDAC compared to CP were selected based on next-generation sequencing results. The levels of these 8 differentially expressed miRNAs were measured by qRT-PCR in 125 serum samples (50 PDAC, 50 CP, and 25 healthy controls (HC)). The results showed significant upregulation of miR-215-5p, miR-122-5p, and miR-192-5p in PDAC serum samples. In contrast, levels of miR-30b-5p and miR-320b were significantly lower in PDAC as compared to CP and HC. ROC analysis showed that these 5 miRNAs can distinguish PDAC from both CP and HC. Hence, this panel can serve as a non-invasive biomarker for the early detection of PDAC.

scholarly journals Validation of a Next-Generation Sequencing Assay Targeting RNA for the Multiplexed Detection of Fusion Transcripts and Oncogenic Isoforms

2019 ◽  
Vol 144 (1) ◽  
pp. 90-98 ◽  
Author(s):  
Robyn T. Sussman ◽  
Amanda R. Oran ◽  
Carmela Paolillo ◽  
David Lieberman ◽  
Jennifer J. D. Morrissette ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Solid Tumors ◽  
Gold Standard ◽  
University Hospital ◽  
Fusion Partner ◽  
Next Generation ◽  
Fixed Tissue ◽  
Fusion Transcripts ◽  
Genetic Abnormalities ◽  
Generation Sequencing

Context.— Next-generation sequencing is a high-throughput method for detecting genetic abnormalities and providing prognostic and therapeutic information for patients with cancer. Oncogenic fusion transcripts are among the various classifications of genetic abnormalities present in tumors and are typically detected clinically with fluorescence in situ hybridization (FISH). However, FISH probes only exist for a limited number of targets, do not provide any information about fusion partners, cannot be multiplex, and have been shown to be limited in specificity for common targets such as ALK. Objective.— To validate an anchored multiplex polymerase chain reaction–based panel for the detection of fusion transcripts in a university hospital–based clinical molecular diagnostics laboratory. Design.— We used 109 unique clinical specimens to validate a custom panel targeting 104 exon boundaries from 17 genes involved in fusions in solid tumors. The panel can accept as little as 100 ng of total nucleic acid from PreservCyt-fixed tissue, and formalin-fixed, paraffin-embedded specimens with as little as 10% tumor nuclei. Results.— Using FISH as the gold standard, this assay has a sensitivity of 88.46% and a specificity of 95.83% for the detection of fusion transcripts involving ALK, RET, and ROS1 in lung adenocarcinomas. Using a validated next-generation sequencing assay as the orthogonal gold standard for the detection of EGFR variant III (EGFRvIII) in glioblastomas, the assay is 92.31% sensitive and 100% specific. Conclusions.— This multiplexed assay is tumor and fusion partner agnostic and will provide clinical utility in therapy selection for patients with solid tumors.

Department of Internal Medicine. University Hospital of Patras. Patras.

2022 ◽  
Vol 35 (13) ◽  
Author(s):  
Themistoklis Paraskevas ◽  
Eleousa Oikonomou ◽  
Maria Lagadinou ◽  
Vasileios Karamouzos ◽  
Nikolaos Zareifopoulos ◽  
...  
Keyword(s):  
Oxygen Therapy ◽  
Case Series ◽  
High Flow ◽  
University Hospital ◽  
Current Evidence ◽  
Cochrane Library ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
High Flow Oxygen

Introduction: Oxygen therapy remains the cornerstone for managing patients with severe SARS-CoV-2 infection and several modalities of non-invasive ventilation are used worldwide. High-flow oxygen via nasal canula is one therapeutic option which may in certain cases prevent the need of mechanical ventilation. The aim of this review is to summarize the current evidence on the use of high-flow nasal oxygen in patients with severe SARS-CoV-2 infection.Material and Methods: We conducted a systematic literature search of the databases PubMed and Cochrane Library until April 2021 using the following search terms: “high flow oxygen and COVID-19” and “high flow nasal and COVID-19’’.Results: Twenty-three articles were included in this review, in four of which prone positioning was used as an adjunctive measure. Most of the articles were cohort studies or case series. High-flow nasal oxygen therapy was associated with a reduced need for invasive ventilation compared to conventional oxygen therapy and led to an improvement in secondary clinical outcomes such as length of stay. The efficacy of high-flow nasal oxygen therapy was comparable to that of other non-invasive ventilation options, but its tolerability is likely higher. Failure of this modality was associated with increased mortality.Conclusion: High flow nasal oxygen is an established option for respiratory support in COVID-19 patients. Further investigation is required to quantify its efficacy and utility in preventing the requirement of invasive ventilation.

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