scholarly journals A Metabolomic Approach in Search of Neurobiomarkers of Perinatal Asphyxia: A Review of the Current Literature

2021 ◽  
Vol 9 ◽  
Author(s):  
Marie Julie Debuf ◽  
Katherine Carkeek ◽  
Fiammetta Piersigilli

Perinatal asphyxia and the possible sequelae of hypoxic-ischemic encephalopathy (HIE), are associated with high morbidity and mortality rates. The use of therapeutic hypothermia (TH) commencing within the first 6 h of life—currently the only treatment validated for the management of HIE—has been proven to reduce the mortality rate and disability seen at follow up at 18 months. Although there have been attempts to identify neurobiomarkers assessing the severity levels in HIE; none have been validated in clinical use to date, and the lack thereof limits the optimal treatment for these vulnerable infants. Metabolomics is a promising field of the “omics technologies” that may: identify neurobiomarkers, help improve diagnosis, identify patients prone to developing HIE, and potentially improve targeted neuroprotection interventions. This review focuses on the current evidence of metabolomics, a novel tool which may prove to be a useful in the diagnosis, management and treatment options for this multifactorial complex disease. Some of the most promising metabolites analyzed are the group of acylcarnitines: Hydroxybutyrylcarnitine (Malonylcarnitine) [C3-DC (C4-OH)], Tetradecanoylcarnitine [C14], L-Palmitoylcarnitine [C16], Hexadecenoylcarnitine [C16:1], Stearoylcarnitine [C18], and Oleoylcarnitine [C18:1]. A metabolomic “fingerprint” or “index,” made up of 4 metabolites (succinate × glycerol/(β-hydroxybutyrate × O-phosphocholine)), seems promising in identifying neonates at risk of developing severe HIE.

Diagnostics ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 39 ◽  
Author(s):  
Rui Batista ◽  
Nuno Vinagre ◽  
Sara Meireles ◽  
João Vinagre ◽  
Hugo Prazeres ◽  
...  

Bladder cancer (BC) ranks as the sixth most prevalent cancer in the world, with a steady rise in its incidence and prevalence, and is accompanied by a high morbidity and mortality. BC is a complex disease with several molecular and pathological pathways, thus reflecting different behaviors depending on the clinical staging of the tumor and molecular type. Diagnosis and monitoring of BC is mainly performed by invasive tests, namely periodic cystoscopies; this procedure, although a reliable method, is highly uncomfortable for the patient and it is not exempt of comorbidities. Currently, there is no formal indication for the use of molecular biomarkers in clinical practice, even though there are several tests available. There is an imperative need for a clinical non-invasive testing for early detection, disease monitoring, and treatment response in BC. In this review, we aim to assess and compare different tests based on molecular biomarkers and evaluate their potential role as new molecules for bladder cancer diagnosis, follow-up, and treatment response monitoring.


2019 ◽  
Vol 21 (Supplement_3) ◽  
pp. iii39-iii39
Author(s):  
M Müther ◽  
W Roll ◽  
B Zinnhardt ◽  
M Schäfers ◽  
K Rahbar ◽  
...  

Abstract BACKGROUND Progressive meningioma is a challenging condition with a decreasing number of treatment options over the course of disease. Neurovascular involvement and multifocal disease often complicate surgical management. In addition, repeated radiotherapy carriers a risk of side effects. In somatostatin receptor expressing meningioma, peptide receptor radiotherapy (PPRT) with 177Lu-DOTATATE poses a promising alternative. However, current evidence is scarce. Hereby we present our single center experience of (PPRT) with 177Lu-DOTATATE in progressive meningioma. METHODS Eight patients (median age: 71 years; range 56–77) with progressive meningioma underwent PRRT using 177Lu-DOTATATE were included in this retrospective analysis. Response to therapy was assessed by interim and post-therapy 68Ga-DOTATATE-PET-CT and MRI. 177Lu-DOTATATE scintigraphies 48h p.i. were evaluated according to Krenning scale. Additionally, clinical outcome and follow up imaging were analyzed for progression free interval times. RESULTS Eight patients were included: Six patients with grade II and two patients with grade I meningiomas, according to the 2016 WHO classification. Six of eight patients harbored multifocal disease. One patients suffered systemic metastatic disease. Patients received a median of three cycles (range: 1 - 5) of PRRT with 177Lu-DOTATATE (mean injected dose 7.1 GBq) between 1/2015 and 1/2019. Tumor uptake in 48h p.i. 177Lu-Scintigraphies was heterogeneous (Krenning scale; median: 3; range: 1–4). Post-therapy imaging scheduled eight weeks after completion of therapy showed progressive disease in five patients, three patients had stable disease. Median follow-up post therapy response evaluation was 24 months in patients with stable disease. Median time to progression was 10 months. CONCLUSION In this cohort of eight progressive meningioma patients 177Lu-DOTATATE therapy showed heterogeneous efficacy.


2016 ◽  
Vol 23 (4) ◽  
pp. 496-504 ◽  
Author(s):  
Laura Airas ◽  
Eero Rissanen ◽  
Juha Rinne

Multiple sclerosis (MS) is a complex disease, where several processes can be selected as a target for positron emission topography (PET) imaging. Unlike magnetic resonance imaging (MRI), PET provides specific and quantitative information, and unlike neuropathology, it can be non-invasively applied to living patients, which enables longitudinal follow-up of the MS pathology. In the study of MS, PET can be useful for in vivo evaluation of specific pathological characteristics at various stages of the disease. Increased understanding of the progressive MS pathology will enhance the treatment options of this undertreated condition. The ultimate goal of developing and expanding PET in the study of MS is to have clinical non-invasive in vivo imaging biomarkers of neuroinflammation that will help to establish prognosis and accurately measure response to therapeutics. This topical review provides an overview of the promises and challenges of the use of PET in MS.


2018 ◽  
Vol 84 (5) ◽  
pp. 684-689 ◽  
Author(s):  
Ana Puertavicente ◽  
Pablo Priego JimÉNez ◽  
María Ángeles Cornejo López ◽  
Francisca GarcÍA-Moreno Nisa ◽  
Gloria RodrÍGuez Velasco ◽  
...  

Esophageal perforation constitutes a surgical emergency. Despite its gravity, no single strategy has been described as sufficient to deal with most situations to date. The aim of this study was to assess the etiology, management, and outcome of esophageal perforation over a 28-year period, to characterize optimal treatment options in this severe disease. A retrospective clinical review of all patients treated for esophageal perforation at Ramón y Cajal Hospital between January 1987 and December 2015 was performed (n = 57). Iatrogenic injury was the most frequent cause of esophageal perforation (n = 32). Abdominal esophagus was the main location (23 patients; 40.4%). Eight patients (14%) were managed with antibiotics and parenteral nutrition. In seven patients (12.3%), an endoscopic stent was implanted. Surgical therapy was performed in 38 patients (66.7%). Morbidity and 90-day mortality rates were 61.4 and 28 per cent, respectively. Five patients were reoperated (8.8%). Median hospital stay was 23.5 days. The mortality rate was higher among patients with spontaneous and tumoral perforation (54.5 and 100%; P = 0.009), delayed diagnosis (>24 hours; P = 0.0001), and abdominal/thoracic location (37.5%; P = 0.05). No statistical differences were found between surgical and conservative/endoscopic management (31% vs 20%; P = 0.205) although hospital staying was longer in surgical group (36.30 days vs 15.63 days; P = 0.029). Esophageal perforation was associated with high morbidity and mortality rates. Global outcomes depend on etiology, site of perforation, and delay in diagnosis. An individualized approach for each patient should be chosen to prevent septic complications of this potentially fatal disease.


Author(s):  
Daniel E Forman ◽  
Samip Vasaiwala ◽  
Traecy S Silbaugh ◽  
Ann Lovett ◽  
Sharon-Lise T Normand ◽  
...  

Background: Very old (VO) adults (≥85 years) are intrinsically susceptible to coronary heart disease (CHD) and are often treated with coronary stents. While current evidence supports use of drug-eluting stents (DES), generalizability to VO remains controversial, especially given high age-associated bleeding risks from long-term dual antiplatelet therapy. Methods: We identified all VO CHD patients who received stents between April 1, 2003 and September 30, 2006 at all non-federal hospitals in Massachusetts (MA) (N=1619), and completed 2-year follow-up on the entire cohort. Patients were classified as DES-treated if stents were all drug-eluting and BMS-treated if stents were all bare-metal (those receiving DES and BMS were excluded). Mortality rates were determined from vital statistics records. New myocardial infarction (MI) and subsequent bleeding (requiring hospitalization) were determined using ICD-9 codes. Repeat target vessel revascularization (TVR) was determined from the MA database. Risk-adjusted cumulative incidence was estimated using propensity score matching based on 57 clinical, procedural, hospital, and insurance variables. Results: During the study period, 1145 and 474 VO patients received DES and BMS respectively. Unadjusted 2-year mortality rates were 23.8% vs. 35.0% (DES vs. BMS, p<0.0001). Risk-adjusted (propensity score matching [665 DES:343 BMS]) 2-year DES vs. BMS rates were 25.4% vs. 32.4% (hazard ratio [HR] 0.69, 95% confidence interval [CI] 0.51, 0.93; p=0.01) for mortality and 9.8 vs.16.9% (HR 0.51, 95% CI 0.35, 0.76; p=0.001) for MI. Risk-adjusted 2-year rates of bleeding (13.6% vs. 12.5%, HR 1.08, 95% CI 0.73, 1.59; p=0.72) and TVR (5.7% vs. 8.7%, HR 0.62, 95% CI 0.38, 1.02; p=0.06) were similar in patients treated with DES vs. BMS. Conclusions: In a large, unrestricted, state dataset of VO CHD patients with mandated follow-up, DES were associated with reduced 2-year mortality and MI compared with a matched BMS subset, without an increased hazard of bleeding.


2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Waqas Jehangir ◽  
John Webb ◽  
Shilpi Singh ◽  
Sabrina Arshed ◽  
Shuvendu Sen ◽  
...  

Myelodysplastic syndromes (MDS) represent a variety of clonal abnormalities, possibly preleukemic and display numerous phenotypic manifestations. Specific mutations carry high morbidity and mortality rates due to cell line dysplasia. MDS commonly presents with symptoms related to anemia, and approximately two-thirds will develop thrombocytopenia, a rare, but potentially lethal complication that increases complexity in treatment and morbidity, and may be due to unique genetic mutations leading to refractory thrombocytopenia, ultimately leading to an overall reduction in survival. Careful identification and monitoring of this patient subdivision can significantly reduce morbidity and mortality, and potential identification of specific gene mutations and advances in treatment options will hopefully provide guidance on detecting at-risk patients in the future. We present a case of a man with MDS-U (karyotype 46, XY, del (20) (q11.2q13.3) (20) with no detected <em>JAK2</em> <em>V617F</em> mutation), who in despite of appropriate evidenced based treatment, continued to exhibit refractory thrombocytopenia.


2014 ◽  
Vol 128 (2) ◽  
pp. 166-168 ◽  
Author(s):  
N Amin ◽  
A Pelser ◽  
J Weighill

AbstractIntroduction:First bite syndrome is a condition characterised by severe facial pain brought on by the first bite of each meal. This can severely affect the patient's ability to eat.Methods:We present a 70-year-old woman for whom we performed a laser ablation of the left ear tympanic plexus, as treatment of first bite syndrome. A permeatal approach was used to raise a tympanomeatal flap. The tympanic plexus was identified on the promontory and a 4 mm2 area of the plexus was ablated using CO2 laser. The flap was repositioned and a dressing was placed with topical antibiotics.Results:At two-month follow up, there was full resolution of the patient's symptoms.Discussion:First bite syndrome carries a high morbidity; treatment options are variable, and often unsuccessful. We describe the first documented case of laser tympanic plexus ablation, with a very effective initial response. This procedure represents a useful therapeutic option for first bite syndrome.


Author(s):  
Sergejs Šapovalovs ◽  
Viktors Ļiņovs ◽  
Andris Gardovskis ◽  
Sintija Lapsa ◽  
Māris Pavārs ◽  
...  

Abstract Acute necrotising pancreatitis is a complex disease with high morbidity and mortality rates. In cases of infected necrosis, treatment consists of a step-up approach involving endoscopic or mini-invasive surgical methods. In some cases, there are extremely rare complications. In addition, the underlying comorbidities worsen the course of the disease. We report a case of a 32-year-old male with acute necrotising pancreatitis complicated with recurrent retroperitoneal abscesses, sepsis, iatrogenic pylephlebitis, exacerbation of underlying Crohn’s disease, and the outcome of the treatment was successful. During the period of hospitalisation, one ultrasound-guided percutaneous drainage, two computed tomography-guided punctures of the retroperito-neal space (percutaneous and transhepatic) and five video-assisted retroperitoneal debridement procedures were carried out. The patient was discharged after 185 days of hospitalisation.


2021 ◽  
Vol 13 ◽  
pp. 1759720X2110375
Author(s):  
Opeyemi O. Babatunde ◽  
Joie Ensor ◽  
Chris Littlewood ◽  
Linda Chesterton ◽  
Joanne L. Jordan ◽  
...  

Background: There are currently many treatment options for patients with subacromial shoulder conditions (SSCs). Clinical decision-making regarding the best treatment option is often difficult. This study aims to evaluate the comparative effectiveness of treatment options for relieving pain and improving function in patients with SSCs. Methods: Eight databases [including MEDLINE, Embase, CINAHL, AMED, PEDro, Cochrane Database of Systematic Reviews and World Health Organization (WHO) International Clinical Trials Registry] were searched from inception until April 2020. Randomised clinical/controlled trials of adult patients investigating the effects of nonsurgical (e.g. corticosteroid injections, therapeutic exercise, shockwave therapy) and surgical treatment for SSCs, compared with each other, placebo, usual care or no treatment, were retrieved. Pairs of reviewers screened studies independently, quality appraised eligible studies using the Cochrane risk of bias tool, extracted and checked data for accuracy. Primary outcomes were pain and disability in the short term (⩽3 months) and long term (⩾6 months). Direct and indirect evidence of treatment effectiveness was synthesised using random-effects network meta-analysis. Results: The review identified 177 eligible trials. Summary estimates (based on 99 trials providing suitable data, 6764 patients, 20 treatment options) showed small to moderate effects for several treatments, but no significant differences on pain or function between many active treatment comparisons. The primary analysis indicated that exercise and laser therapy may provide comparative benefit in terms of both pain and function at different follow-up time-points, with larger effects found for laser in the short term at 2–6 weeks, although direct evidence was provided by one trial only, and for exercise in the longer term [standardised mean difference (SMD) 0.39, 95% confidence interval (CI) 0.18, 0.59 at 3–6 months] compared with control. Sensitivity analyses excluding studies at increased risk of bias confirmed only the comparative effects of exercise as being robust for both pain and function up until 3-month follow-up. Conclusion: Current evidence shows small to moderate effect sizes for most treatment options for SSCs. Six treatments had a high probability of being most effective, in the short term, for pain and function [acupuncture, manual therapy, exercise, exercise plus manual therapy, laser therapy and Microcurrent (MENS) (TENS)], but with low certainty for most treatment options. After accounting for risk of bias, there is evidence of moderate certainty for the comparative effects of exercise on function in patients with SSCs. Future large, high-quality pragmatic randomised trials or meta-analyses are needed to better understand whether specific subgroups of patients respond better to some treatments than others.


2017 ◽  
Vol 13 (21) ◽  
pp. 217
Author(s):  
Thiam L. ◽  
Dramé A. ◽  
Coly IZ. ◽  
Diouf FN. ◽  
Sylla A. ◽  
...  

Introduction: Perinatal asphyxia (PA) is one of the reasons for the transfer of the newborn to neonatal resuscitation services. The objective of this work was to study the epidemiological, obstetrical, clinical and evolutionary aspects of PA at the Ziguinchor Peace Hospital. Materials and methods: This was a retrospective study of cases of hospitalized HAs during the period 1 December 2015 to 31 May 2017. The diagnosis of PA was based on an anomaly of the rhythm Fetal heart rate and / or amniotic fluid abnormality; A score of Apgar <7 at the 5th minute and / or the absence of an immediate cry at birth. We collected epidemiological, obstetric, clinical and evolutionary data. Results: We collected 153 cases of PA (90 boys and 63 girls) among 742 newborns, an incidence of 20.6% of neonatal hospitalizations. The mean age of mothers was 17.2 years; 82.0% of mothers were between 18 and 35 years of age and half (50.3%) had four or more NPCs. Anemia (37.0%), maternal infection (36.4%), hypertension (30.9%), premature rupture of membranes (RPM) (28.6%), eclampsia and Preeclampsia (9.9%) were the main obstetric complications. The delivery was performed by Caesarean section in 52.3% of cases and by low procedure in 47.7% of cases. The term of birth was between 37 and 41 SA in 53.3% of the cases. The amniotic fluid (LA) was tinted in 55.7% of the cases and meconium in 12.3%. At the 5th minute, 42.6% of the infants had an Apgar score <7. One hundred percent of the children (n = 153) had been aspirated at birth and 24.8% (n = 38) had been ventilated To the mask. One hundred and twenty-three patients (80.3%) had anoxo-ischemic encephalopathy, of which 95 (77.2%) were in stage 1; 27 (22.0%) were in stage 2 and 1 (0.8%) was in stage 3 of the Sarnat classification. The main neurological signs were the anomalies of archaic reflexes (64.2%); Tone disorders (57.7%); Disorders of consciousness (22.8%); Convulsions (21.9%). The case fatality rate was 10.4% (16 deaths). Deaths were significantly associated with low birth, MMP, mask ventilation, respiratory distress, and convulsion. Conclusion: PA accounts for 20.6% of neonatal hospitalizations at the Ziguinchor Peace Hospital. Its lethality is 10.4%. It is associated with high morbidity.


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