scholarly journals Searching for the Fetal Alcohol Behavioral Phenotype

2020 ◽  
Vol 7 ◽  
pp. 2333794X2094133
Author(s):  
Gideon Koren ◽  
Asher Ornoy

This narrative review presents the emerging published evidence on the existence of a phenotypic behavior in children with fetal alcohol spectrum behavior. Such a phenotype, exhibiting high sensitivity, specificity, and predictive values, may assist clinicians and families in identifying children who often miss some of the information needed for full diagnosis, but who may benefit from these screening tools in mobilizing help to these youngsters and their families.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nita Vangeepuram ◽  
Bian Liu ◽  
Po-hsiang Chiu ◽  
Linhua Wang ◽  
Gaurav Pandey

AbstractPrediabetes and diabetes mellitus (preDM/DM) have become alarmingly prevalent among youth in recent years. However, simple questionnaire-based screening tools to reliably assess diabetes risk are only available for adults, not youth. As a first step in developing such a tool, we used a large-scale dataset from the National Health and Nutritional Examination Survey (NHANES) to examine the performance of a published pediatric clinical screening guideline in identifying youth with preDM/DM based on American Diabetes Association diagnostic biomarkers. We assessed the agreement between the clinical guideline and biomarker criteria using established evaluation measures (sensitivity, specificity, positive/negative predictive value, F-measure for the positive/negative preDM/DM classes, and Kappa). We also compared the performance of the guideline to those of machine learning (ML) based preDM/DM classifiers derived from the NHANES dataset. Approximately 29% of the 2858 youth in our study population had preDM/DM based on biomarker criteria. The clinical guideline had a sensitivity of 43.1% and specificity of 67.6%, positive/negative predictive values of 35.2%/74.5%, positive/negative F-measures of 38.8%/70.9%, and Kappa of 0.1 (95%CI: 0.06–0.14). The performance of the guideline varied across demographic subgroups. Some ML-based classifiers performed comparably to or better than the screening guideline, especially in identifying preDM/DM youth (p = 5.23 × 10−5).We demonstrated that a recommended pediatric clinical screening guideline did not perform well in identifying preDM/DM status among youth. Additional work is needed to develop a simple yet accurate screener for youth diabetes risk, potentially by using advanced ML methods and a wider range of clinical and behavioral health data.


Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 521
Author(s):  
Ina Nehring ◽  
Heribert Sattel ◽  
Maesa Al-Hallak ◽  
Martin Sack ◽  
Peter Henningsen ◽  
...  

Thousands of refugees who have entered Europe experienced threatening conditions, potentially leading to post traumatic stress disorder (PTSD), which has to be detected and treated early to avoid chronic manifestation, especially in children. We aimed to evaluate and test suitable screening tools to detect PTSD in children. Syrian refugee children aged 4–14 years were examined using the PTSD-semi-structured interview, the Kinder-DIPS, and the Child Behavior Checklist (CBCL). The latter was evaluated as a potential screening tool for PTSD using (i) the CBCL-PTSD subscale and (ii) an alternative subscale consisting of a psychometrically guided selection of items with an appropriate correlation to PTSD and a sufficient prevalence (presence in more than 20% of the cases with PTSD). For both tools we calculated sensitivity, specificity, and a receiver operating characteristic (ROC) curve. Depending on the sum score of the items, the 20-item CBCL-PTSD subscale as used in previous studies yielded a maximal sensitivity of 85% and specificity of 76%. The psychometrically guided item selection resulted in a sensitivity of 85% and a specificity of 83%. The areas under the ROC curves were the same for both tools (0.9). Both subscales may be suitable as screening instrument for PTSD in refugee children, as they reveal a high sensitivity and specificity.


Author(s):  
Ashoka Mahapatra ◽  
K Nikitha ◽  
Sutapa Rath ◽  
Bijayini Behera ◽  
Kavita Gupta

Abstract Background Spread of carbapenem-resistant Enterobacterales (CRE) is a significant concern in intensive care unit (ICU) settings. Approaches to routine screening for CRE colonization in all ICU patients vary depending on institutional epidemiology and resources. The present study was aimed to evaluate the performance of HiCrome Klebsiella pneumoniae carbapenemase (KPC) agar for the detection of CRE colonization in ICU settings taking the Centers for Disease Control and Prevention (CDC) recommended method as reference. Methods Two-hundred and eighty rectal swabs (duplicate) from 140 patients were subjected to CRE detection in HiCrome KPC agar and MacConkey agar (CDC criteria). Results Using CDC method, total 41 CRE isolates were recovered comprising of 29 E scherichia coli, 11 Klebsiella, and 1 Enterobacter spp. On the other hand, 49 isolates of CRE recovered from 140 rectal swabs using HiCrome KPC agar, out of which 33 were E. coli, 15 Klebsiella, and 1 Enterobacter sp. Statistical Analysis Sensitivity, specificity, negative, and positive predictive values of CRE screening by HiCrome KPC agar were found to be 100% (91.4–100), 91.9% (84.8–95.8), 83.6% (70.9–91.4), and 100% (95.9–100), respectively, taking the CDC recommended method as reference. Conclusion HiCrome KPC agar has high sensitivity in screening CRE colonization. Further studies are needed to establish its applicability for detecting the predominant circulating carbapenemases in the Indian setting.


2008 ◽  
Vol 8 ◽  
pp. 873-882 ◽  
Author(s):  
Kelly Nash ◽  
Erin Sheard ◽  
Joanne Rovet ◽  
Gideon Koren

Fetal alcohol spectrum disorders (FASDs) currently represent the leading cause of mental retardation in North America, ahead of Down syndrome and cerebral palsy. The damaging effects of alcohol on the developing brain have a cascading impact on the social and neurocognitive profiles of affected individuals. Researchers investigating the profiles of children with FASDs have found impairments in learning and memory, executive functioning, and language, as well as hyperactivity, impulsivity, poor communication skills, difficulties with social and moral reasoning, and psychopathology. The primary goal of this review paper is to examine current issues pertaining to the identification of a behavioral phenotype in FASDs, as well as to address related screening and diagnostic concerns. We conclude that future research initiatives comparing children with FASDs to nonalcohol-exposed children with similar cognitive and socioemotional profiles should aid in uncovering the unique behavioral phenotype for FASDs.


2018 ◽  
Vol 24 (2) ◽  
pp. 82
Author(s):  
Burak Yucel ◽  
Emine Demirel ◽  
Sefa Kelekci ◽  
Kerem Doga Seckin ◽  
Osama Shawki

<p><strong>Objective</strong></p><p>The aim of this study was to evaluate the diagnostic accuracy of hysteroscopic chromopertubation (HCT) in the assessment of tubal patency by comparing its results with laparoscopic chromopertubation (LCT).</p><p><strong>Study Design</strong></p><p>The population of this prospective cohort study consisted of both fertile and infertile women. Sixty-four women were included to the study. HCT was assessed by the observation of the transport of highly concentrated methylene blue from uterine cavity to tubal ostia. The results of HCT were compared with the results of LCT as a gold standard. The accuracy of HCT, sensitivity, specificity, positive and negative predictive values in diagnosing tubal patency were calculated.<strong></strong></p><p><strong>Results</strong></p><p>The results of HCT and LCT were evaluated for right and left tubes, separately. One hundred and twenty-eight tubes were determined. Sensitivity, specificity, positive and negative predictive values for HCT were; 85.85%, 59.09%, 91% and 46.43%, respectively.</p><p><strong>Conclusion </strong></p><p>This study’s result showed that HCT had high sensitivity and moderate specificity values in the assessment of tubal patency. HCT during office hysteroscopy could give the chance to practitioners to assess tubal patency without subjecting the patient to multiple procedures.<strong></strong></p>


2020 ◽  
Author(s):  
Omar Vesga ◽  
Andres F. Valencia ◽  
Alejandro Mira ◽  
Felipe Ossa ◽  
Esteban Ocampo ◽  
...  

AbstractMolecular tests for viral diagnostics are essential to confront the COVID-19 pandemic, but their production and distribution cannot satisfy the current high demand. Early identification of infected people and their contacts is the key to being able to isolate them and prevent the dissemination of the pathogen; unfortunately, most countries are unable to do this due to the lack of diagnostic tools. Dogs can identify, with a high rate of precision, unique odors of volatile organic compounds generated during an infection; as a result, dogs can diagnose infectious agents by smelling specimens and, sometimes, the body of an infected individual. We trained six dogs of three different breeds to detect SARS-CoV-2 in respiratory secretions of infected patients and evaluated their performance experimentally, comparing it against the gold standard (rRT-PCR). Here we show that viral detection takes one second per specimen. After scent-interrogating 9,200 samples, our six dogs achieved independently and as a group very high sensitivity, specificity, predictive values, accuracy, and likelihood ratio, with very narrow confidence intervals. The highest metric was the negative predictive value, indicating that with a disease prevalence of 7.6%, 99.9% of the specimens indicated as negative by the dogs did not carry the virus. These findings demonstrate that dogs could be useful to track viral infection in humans, allowing COVID-19 free people to return to work safely.


2019 ◽  
Vol 37 (7_suppl) ◽  
pp. 384-384
Author(s):  
Hussein Mustafa Khaled ◽  
Abdel-Rahman Zekri ◽  
Mai B Mohamed ◽  
Fatma M Diab ◽  
Mona Abdellateif ◽  
...  

384 Background: Microsatellite alterations in urine sediments have proved to be a promising tool for detection of bladder cancer (BC) due to its high sensitivity and specificity. Methods: We assessed the possible prognostic and predictive values of microsatellite alterations in tissue samples and urine sediments obtained from Egyptian patients with BC, and their utility as diagnostic, prognostic and predictive value. Microsatellite instability (MSI) and loss of heterozygosity (LOH) were assessed using 13 microsatellite markers in tumor tissue and urine sediments of 30 patients with BC. The concordance between MSI in tissue and urine samples was determined. Results: We found that MSI was more frequent than LOH (100% and 46.7%; respectively). D16S310, MBP and IFN-α showed the highest MSI frequency in urine samples (70%, 70% and 66.67%; respectively), while MBP, ACTBP2 and D9S171 (66.67%, 63.33%, and 60%; respectively) were the most frequently detected in tumor tissue. All markers correlated significantly with the pathological subtypes (more frequent in TCC) and hematuria. The concordance between tissue and urine was statistically significant for , D9S171, D16S476, FGA and ACTBP2 (P = 0.04, 0.015, 0.02 and 0.007; respectively). When we combined D16S476 and D9S171, the sensitivity, specificity, PPV and NPV reached (80.0%, 75.0%, 82.8% and 71.4%; respectively) for diagnosis of BC . Conclusions: Thus MSI in urine sediments could be a sensitive and reliable method for diagnosis of BC.


2020 ◽  
Vol 35 (1_suppl) ◽  
pp. 31-36 ◽  
Author(s):  
Maria Pilar Aparisi Gómez ◽  
Alberto Righi ◽  
Costantino Errani ◽  
Giancarlo Facchini ◽  
Marco Gambarotti ◽  
...  

Cancer causes inflammation as it progresses through healthy tissue. The differentiation of tumoral growth from the surrounding inflammatory change is paramount in planning surgeries seeking to preserve function. This retrospective study aims at illustrating how a careful use of imaging (computed tomography (CT)/magnetic resonance imaging (MRI)) can help to draw the line between infiltration and inflammation. Out of 72 cases of parosteal osteosarcoma in our institution we selected 22 which had pretreatment imaging, and out of those, 14 that had both MRI and CT. Using Fisher’s exact test, we evaluated the performance of each technique on accurately diagnosing medullary tumor infiltration, using histological analysis as a gold standard. All cases (14/14) demonstrated medullary abnormality on MRI, but only 6/14 (42.9%) demonstrated abnormality on CT. The 8/14 cases with MRI abnormality but no CT abnormality (57.1%) showed inflammation with no tumoral cells present on histological analysis. In the cases where the two examinations showed medullary abnormality (6/14) histology demonstrated tumoral infiltration. MRI demonstrated high sensitivity and negative predictive value, but low specificity and low positive predictive value and accuracy (P=1). CT demonstrated high sensitivity, specificity, high positive and negative predictive values and accuracy (P = 0.000333). MRI is highly sensitive for the detection of medullary abnormality but lacks specificity for tumor invasion. Correlation with CT is recommended in all cases of positive MR to add specificity for tumors. The adequate use of the two imaging methods allows to differentiate between inflammatory change and tumoral infiltration in POS, relevant for surgical planning.


2017 ◽  
Vol 25 (2) ◽  
pp. 142-149 ◽  
Author(s):  
Rachel P Berger ◽  
Richard A Saladino ◽  
Janet Fromkin ◽  
Emily Heineman ◽  
Srinivasan Suresh ◽  
...  

Abstract Objective Physical abuse is a leading cause of pediatric morbidity and mortality. Physicians do not consistently screen for abuse, even in high-risk situations. Alerts in the electronic medical record may help improve screening rates, resulting in early identification and improved outcomes. Methods Triggers to identify children &lt; 2 years old at risk for physical abuse were coded into the electronic medical record at a freestanding pediatric hospital with a level 1 trauma center. The system was run in “silent mode”; physicians were unaware of the system, but study personnel received data on children who triggered the alert system. Sensitivity, specificity, and negative and positive predictive values of the child abuse alert system for identifying physical abuse were calculated. Results Thirty age-specific triggers were embedded into the electronic medical record. From October 21, 2014, through April 6, 2015, the system was in silent mode. All 226 children who triggered the alert system were considered subjects. Mean (SD) age was 9.1 (6.5) months. All triggers were activated at least once. Sensitivity was 96.8% (95% CI, 92.4–100.0%), specificity was 98.5% (95% CI, 98.3.5–98.7), and positive and negative predictive values were 26.5% (95% CI, 21.2–32.8%) and 99.9% (95% CI, 99.9–100.0%), respectively, for identifying children &lt; 2 years old with possible, probable, or definite physical abuse. Discussion/Conclusion Triggers embedded into the electronic medical record can identify young children with who need to be evaluated for physical abuse with high sensitivity and specificity.


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