screening

The present article extends the PVSG-WHO criteria into a simplified set of Rotterdam and European Clinical, Molecular and Pathological (RCP/ECMP) criteria to diagnose and classify the myeloproliferative neoplasms (MPNs). The crude WHO criteria still miss the masked and early stages of ET and PV. Bone marrow histology has a near to 100% sensitivity and specificity to distinguish thrombocythemia in BCR/ABL positive CML and ET, and the myelodysplastic syndromes in RARS-T and 5q-minus syndrome from BCR/ABL negative thrombocythemias in myeloproliferative disorders (MPD). The presence of JAK2V617F mutation with increased erythrocytes above 6x1012/L and hematocrit (>0.51 males and >0.48 females) is diagnostic for PV obviating the need of red cell mass measurement. About half of WHO defined ET and PMF and 95% of PV patients are JAK2V617F positive. The combination of molecular marker screening JAK2V617F, JAK2 exon 12, MPL515 and CALR mutations and bone marrow pathology is 100% sensitive and specific for the diagnosis of latent, early and classical ECMP defined MPNs. The translation of WHO defined ET, PV and PMF into ECMP criteria have include the platelet count above 350 x109/l, mutation screening and bone marrow histology as inclusion criteria for thrombocythemia in various MPNs. According to ECMP criteria, ET comprises three distinct phenotypes of true ET, ET with features of early (“forme fruste” PV), and ET with a hypercellular erythrocythemic, megakaryocytic granulocytic myeloproliferation (EMGM or masked PV). The ECMP criteria clearly differentiate early erythrocythemic, prodromal and classical PV from congenital polycythemia and idiopathic or secondary erythrocytosis. The burden of JAK2V617F mutation in heterozygous ET and in homozygous PV is of major clinical and prognostic significance. JAK2 wild type MPL515 mutated normocellular ET and MF lack PV features in blood and bone marrow. JAK2/MPL wild type hypercellular ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) is the third distinct CALR mutated MPN. The translation of WHO into ECMP criteria for the classification of MPNs have a major impact on prognosis assessment and best choice for first line non-leukemogenic approach to postpone potential leukemogenic myelopsuppressive agents as long as possible in ET, PV and PMGM patients.

Background: Delirium is an acute syndrome of organ dysfunction with long-term consequences which commonly occurs in the Intensive Care Unit (ICU). The incidence of delirium ranges from 30% - 50% in low severity ICU patients and up to 80% in mechanically ventilated patients. This condition is frequently under-recognized and daily routine screening is a key strategy to early intervention. The Confusion Assessment Method for the Intensive Care Unit (CAM-ICU) and the Intensive Care Delirium Screening Checklist (ICDSC) are the most recommended assessment tools for detecting delirium in the critical ill patient. Objective: The main objective of this study is to educate ICU staff about delirium. In addition, nurses were trained to use the CAM-ICU as a standard screening tool. The intervention was evaluated through a survey aimed at ICU staff. Methods: An educational intervention was started in 2014 in our ICU. An educational package for ICU staff consisted of a didactic brochure and explanatory videos. One-on-one teaching, case based scenarios and didactic teaching were strategies used in the implementation process. The entire intervention was evaluated by means of a survey directed to the professionals. Results: The structure of the didactic brochure was simple in order to have an easy understanding of the CAM-ICU tool. We also created 10-minute videos. According to the results of the satisfaction survey (N=62), disorganized thinking was the most difficult feature of CAM-ICU to interpret. When in doubt, consultation between co-workers was the primary resource selected by unit staff. Conclusion: This initiative achieved the objective of training health care professionals in the application of the CAM-ICU tool with a good level of satisfaction from them. Therefore, ICU staff consider delirium management in the broader picture of critically ill patient care as a major activity of daily practice.

Introduction: Despite advances in the management of sickle cell disease (SCD), gaps still exist in the knowledge of healthcare professionals (HCPs) about the disease. The objective of this study was to assess the knowledge of HCPs about SCD. Methods: This is a cross-sectional study involving 465 HCPs (physicians and nurses) who responded to the DFConhecimento instrument questionnaire. Performance was tested in terms of average score and proportion of correct response for each questionnaire item topic. Results: The average score for respondents was 4.6 ± 1.9 out of a total of 13 points. Proportions of professionals who responded well were greater than 58% in three topics (Neonatal screening program, Sickle cell conditions, and Sickle cell anemia genotype). In the other topics, rates of good response ranged from 11.6% to 46.0%. There was a statistical association between best performance and medical title: physicians were more knowledgeable than nurses (OR = 6.26; 95% CI: 2.69-14.56). Conclusion: This study highlighted that knowledge of SCD among HCPs is very inadequate. This lack of sufficient information on SCD from HCPs indicates the need to develop continuing education programs.

In vitro fertilization is one of the most common and effective procedure for thousands of couples worldwide who want to have a child and are unable to do so for various reasons. Diverse studies show that couples who conceive naturally after one year of trying had newborns with an increased risk of prematurity and low birth weight, compared with couples who conceived before completing one year of trying. Children from assisted reproduction (AR), have a 30% increased risk of prematurity and low birth weight, compared with children from infertile fathers. Regarding the conflicting results the present study aimed to record the frequency of genetic, congenital anomalies in children and adolescents who had examined in the last decade to the Clinical Genetics Clinic of the National and Kapodistrian University of Athens whose mothers had undergone assisted reproduction. The research process was conducted at the "Aghia Sofia" Children's Hospital based in Athens. However, the cases that were studied came from all over Greece. Initially, the researcher recorded the cases that came to the clinic of Clinical Genetics and whose conception occurred after technical assisted reproduction. After telephone communication and the consent of the parents, a live appointment was scheduled. In this meeting-interview all the provisions of the investigation and the protocol were asked and some elements of the medical history of the cases were confirmed. The total sample included 230 children and adolescents. The resulting data were recorded on a printed form/questionnaire. Then, they were registered electronically in the program SPSS 25.0 (Statistical Package for Social Sciences) with a specific unit code for each case/patient, followed by the processing and statistical analysis of the data as well as the recording of the results. The gender of the participants was male for 118 participants (51.3%) and 112 females (48.7%). Mean and standard deviation (SD) of maternal, paternal (at the time of delivery) age was equal to 36.38 (5.94) and 39.94 (6.58) respectively. The observed abdormalities were 35.53% psychomotor retardation, 23.68% facial abnormalities, 23.68% spinal cord abnormalities, 21.05% morphological abnormalities, 20.61% short stature, 19.74% developmental disorders, 19.30% heart disease, 16.67% neurological diseases, 14.47% genetic syndromes, 11.40% genital abnormalities, 8.33% limb abnormalities, 7.46% dermatological abnormalities, 6.14% eye abnormalities, 6.14% hypothyroidism, 5.70% endocrine disorders, 5.26%otolaryngology abnormalities, 2.63% disease of kidney, intestine, 2.19% vascular malformations. Regarding the karyotype chromosome analysis by G-banding technique, from the 230 children in: 24 (10.43%) a pathological result was found, in 158 children (68.70%) it was found normal (46, XX or 46, XY by case) without other findings, while in 48 children (20.87%) the test was not performed for various reasons. Regarding the results of molecular analysis (DNA) from the 230 children, in 50 (21.74%) a pathological finding was found, in 56 children (24.35%) no abnormalities were found and in 124 children (53.91%) no molecular analysis was performed for various reasons. In conclusion, the sample of this descriptive study is characterized as uniform in terms of the method of assisted reproduction since 96.24% had followed the classic IVF. Full-term pregnancy was associated with the appearance of malignancy and head morphological abnormalities (64.6%), normal pregnancy was associated with genetic syndromes (18.2%) and facial abnormalities (11.1%). It is recommended the screening oocyte and sperm donors in order to help protect the safety and health of donors, recipients, and future offspring. The present study confirms the association of the presence of congenital anomalies after in vitro fertilization (IVF). However, the absolute risk of developing severe dysplasias after an IVF procedure is limited.

Background: Diabetic retinopathy (DR) is one of the most common causes of preventable blindness. Patients with Diabetes Mellitus (DM) develop not only DR but also corneal endothelial damage leading to anatomical and physiological changes in cornea. Central corneal thickness (CCT) is a key parameter of refractive surgery and Intraocular pressure (IOP) estimation. The role of CCT and higher glycemic index in DR needs to be researched upon.Objectives: To identify the corneal endothelial morphology in patients with type 2 DM, to measure the Central Corneal thickness (CCT) in patients with type 2 Diabetes Mellitus, to assess the relationship of CCT with HbA1C levels in the study group and to correlate the CCT with the severity of Diabetic retinopathy in the study group.Methods: A cross-sectional observational study was conducted between January 2018 and June 2019 in Vydehi Institute of Medical Sciences and Research Centre, Bangalore. The study included 100 subjects with type 2 DM for 5 years or more. Patients with comorbidities that may affect the severity of DR or alter CCT and other corneal endothelial parameters such as glaucoma, previous ocular surgery or trauma, corneal degenerations and dystrophies, chronic kidney disease and Hypertension were excluded. DR was assessed by dilated fundoscopy, fundus photography and optical coherence imaging of the macula and graded as per the Early Treatment of Diabetic Retinopathy Study (ETDRS) classification. CCT and other corneal endothelial parameters were measured through specular microscopy. Relevant blood investigations including blood sugar levels were done for all patients.Statistical analysis: Relationship between CCT and grades of DR and HbA1c levels were established using the Chi-Square test. The level of significance was set at p < 0.05.Results: The mean CCT in patients with no diabetic retinopathy, very mild and mild non-proliferative diabetic retinopathy (NPDR), moderate NPDR, severe and very severe NPDR and PDR was 526.62 ± 8.084 μm, 542.07 ± 8.713 μm, 562.16 ± 8.255 μm, 582.79 ± 7.368 μm and 610.43 ± 18.256 μm respectively. Analysis of the relationship between CCT and severity of DR showed a statistically significant positive correlation between the two parameters (Pearson r = 0.933, p = 0.001). Beyond this, a correlation was found between all the corneal endothelial parameters and severity of DR. Multivariate analysis showed that advanced DR was positively correlated with CV (r  = 0.917) and CCT (r = 0.933); while it was negatively correlated with ECD (r = -0.872) and Hex (r = -0.811). A statistically significant correlation was also found between CCT and HbA1c. Also increasing age, duration of DM and higher glycemic index were positively correlated with severity of DR. Conclusion: This study, by demonstrating a strong correlation between the central corneal thickness to the severity of DR and HbA1c levels emphasizes the importance of evaluation of corneal endothelial morphology in the early screening and diagnosis of microvascular complications of DM.

Purpose: Real-time reverse-transcription polymerase chain reaction (RT-PCR)-based testing remains the gold standard for the diagnosis of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Due to the high diagnosis demand of SARS-CoV-2 and the limited resources for RT-PCR testing, especially in Low-Income Countries (LICs), antigen-based methods are being considered as an option. The aim of this study was to assess the performance of LumiraDx SARS-CoV-2 antigen assay for large population screening compared to RT-PCR.Methods: This evaluation was conducted on 4146 participants including travelers and participants under household survey and vaccine evaluation studies before injection of the first dose. Oropharyngeal and nasopharyngeal swaps were collected from each participant into 2 mL of viral transport medium (VTM) and 400 μl of VTM were used to assess the performance of LumiraDx SARS-CoV-2 antigen assay, compared to RT-PCR. Results: The prevalence of SARS-CoV-2 of the cohort was 4.5% with RT-PCR and 4.1% with LumiraDx antigen test. Compared to the RT-PCR, the sensitivity and specificity of the LumiraDx antigen SARS-CoV-2 test were 82,7% [95% CI 74.1-89,7] and 99.9% [95% CI 99.6-99.9] respectively. Given the RT-PCR threshold cycle (Ct) range, the sensitivity was 92.1% [95% CI 84.6-96.3] when the Ct value was below or equal 33 cycles, and 38.1% [95% CI 18.9-61.3] when it was above 33 cycles. The inter-rater reliability showed a kappa coefficient of 0.88 when considering all the patients and 0.94 for Ct values below 33 cycles. Conclusion: Our data have shown that the LumiraDx platform can be considered for large-scale testing of SARS-CoV-2.

Background: Heparin-induced thrombocytopenia/thrombosis (HIT/T) is characterized by a fall in platelet count 5-10days after starting heparin therapy and is diagnosed with specific 4-T clinical features and laboratory tests. This complication is relatively common in Cardiothoracic surgery patients. Objective: To evaluate the positive and negative predictive value of various HIT laboratory tests and assess any correlation between HIT, the underlying diagnosis, underlying procedure, and mechanical cardiac devices. Patients and methods: The patient’s medical records were correlated with two laboratories HIT diagnostic tests, the pan-specific screening test with IgG, IgA, and IgM antibodies, followed by HIT specific IgG ELISA. Results: Total n = 80 patients were assessed, 48% (n = 38) were HIT screen pan-specific negative and 50% (n = 40) were HIT pan-specific positive and 2 cases were inconclusive. 17% (n = 14) were both pan-specific and specific HIT IgG ELISA positive. There were 5 atypical cases. One patient had Eosinophilic myocarditis and was HIT ELISA IgG neg. Argatroban was given on clinical grounds with successful recovery. One patient with Sarcoidosis had an aggressive course and received IV Immunoglobulin (IVIG) but succumbed secondary to liver failure. One patient progressed to gut ischemia and had surgical intervention but succumbed. Two patients with mechanical heart valves were on Argatroban but relapsed and responded to IVIG therapy. Conclusion: Our study indicates that 9/16 (> 50%) HIT-positive patients had valve replacement or cardiac devices suggesting that like knee arthroplasty there is a high incidence of HIT in patients with mechanical heart valves and cardiac devices and this warrants further prospective study. 

Throughout global efforts to defend against the spread of COVID-19 from late 2019 up until now, one of the most crucial factors that has helped combat the pandemic is the development of various screening methods to detect the presence of COVID-19 as conveniently and accurately as possible. One of such methods is the utilization of chest X-Rays (CXRs) to detect anomalies that are concurrent with a patient infected with COVID-19. While yielding results much faster than the traditional RT-PCR test, CXRs tend to be less accurate. Realizing this issue, in our research, we investigated the applications of computer vision in order to better detect COVID-19 from CXRs. Coupled with an extensive image database of CXRs of healthy patients, patients with non-COVID-19 induced pneumonia, and patients positive with COVID-19, convolutional neural networks (CNNs) prove to possess the ability to easily and accurately identify whether or not a patient is infected with COVID-19 in a matter of seconds. Borrowing and adjusting the architectures of three well-tested CNNs: VGG-16, ResNet50, and MobileNetV2, we performed transfer learning and trained three of our own models, then compared and contrasted their differing precisions, accuracies, and efficiencies in correctly labeling patients with and without COVID-19. In the end, all of our models were able to accurately categorize at least 94% of the CXRs, with some performing better than the others; these differences in performance were largely due to the contrasting architectures each of our models borrowed from the three respective CNNs.

ems. Preliminary field tests may be used for screening the debris on the explosion site. They include commercially available explosive vapor detectors and chemical color tests. Like post-explosion residues, personal items suspected to contain traces of explosives and hand-swabs, are often heavily contaminated. It is therefore of major importance that the analytical procedures have to include good screening, clean-up, and extraction methods. The main explosives dealt with in this chapter include nitroaromatic explosives, such as 2,4,6-trinitrotoluene (TNT) and 2,4,6, N-tetranitro-N-methyl aniline (tetryl), nitrate esters, such as ethylene glycol dinitrate (EGDN), glycerol trinitrate (nitroglycerin, NG), and pentaerythritol tetranitrate (PETN), and nitramine explosives, such as 1,3,5- trinitro-1,3,5-triazacyclohexane, (RDX) and 1,3,5,7-tetranitro-1,3,5,7-tetrazacyclooctane (HMX), as well as mixtures containing one or more of these explosives. Additional explosives include triacetone triperoxide (TATP) and ammonium nitrate (AN), NH4NO3.

Background: Breast self-examination is the most important screening method for early detection and diagnosis of Breast cancer. Females assess their breasts regularly to detect any abnormalities to seek instant medical attention. Objectives: The main objective of the study was to assess the knowledge on breast self-examination among female adolescents of Nepal.Method: A cross-sectional study was conducted using self-structured questionnaires among female adolescents of Model Multiple College, Dhanusha. The sample size was 120 participants. Probability proportionate stratified sampling technique was used to collect the data from October 28th to November 12th, 2013. Data were processed through Statistical Package for Social Sciences version 16 and analyzed using descriptive statistics.Results: Out of 120 participants 67.5% participants had knowledge about breast cancer and 40% had knowledge of breast self-examination (BSE). Most of them (94.2%) had a poor knowledge of BSE followed by 5.8% of participants with a moderate level of knowledge of BSE. The mean knowledge score was 18.7 ± 3.5. The majority (66.7%) of participants were from science faculties. More than half (51.7%) of participants stated source of information on BSE was health personnel. Only 25% of the respondent had a family history of breast cancer. Conclusion: The study revealed that most (94.2%) of the participants had poor knowledge of breast self-examination. There is further need for awareness and health education on breast self-examination. 

Most parents in affluent countries receive information about neonatal jaundice from instructional pamphlets and/or verbally from nurses before discharge. Predischarge protocols, content and delivery of information for parents, and screening for jaundice vary among hospitals. Newborns are usually screened either visually or with a transcutaneous monitor to estimate the intensity of jaundice. The timing of follow-up is guided by the newborn’s clinical status, age at discharge and risk of developing significant hyperbilirubinemia based on an hour-specific bilirubin level [1,2].

The SARS-CoV-2 pandemic is still ongoing. Previously, several studies have been conducted to investigate laboratory markers as a tool for severity assessment during COVID-19 infections. Biological markers such as Platelet count, D-dimer and IL-6, Lymphocytopenia and others have been used for assessment of severity in COVID-19 disease patients (infected by SARS-CoV-2 Alpha, Beta, Gamma, Delta, Epsilon, and other variants). We observed a significant drop in lymphocyte count among suspected SARS-CoV-2 clinical patients with symptoms of fever, running nose, breathing discomfort, cough, and others during Omicron and Centaurus variants spread in Pakistan. A multicenter, cross-sectional study was conducted from Jan 2021 to Aug 2022, on 118,561 subjects to evaluate hematological abnormalities among suspected patients. Of note, significantly decreased lymphocyte levels (lymphocytopenia) were observed among 43.05% of infected patients. Also, the levels of NA (39.03%), HGB (28.27%), MCV (22.62%), PLT (8.17%), and ALB (4.30%) were also reduced among infected patients. This suggests that lymphopenia can be used as an alternative, cost-effective, early diagnostic biomarker for clinical COVID-19 patients, even before the diagnosis via real-time PCR. In resource-limited countries, the current study is critical for policy-making strategic organizations for prioritizing lymphocytopenia-based screening (as an alternative, cost-effective diagnostic test) in clinical COVID-19 patients, before real-time PCR-based diagnosis.

Through the development of new analysis technologies, many issues regarding the approach to tumoral diseases have been elucidated. With analytical assays developed in the last years, various omics technologies have evolved in such a manner that the characteristics of tumor cells and products can be evaluated (assessed) in the bloodstream of cancer patients at different times. Ovarian Cancer (OC) is one of the most difficult to diagnose umors, with low survival rates due to the high heterogeneity of these diseases that are distinct in terms of etiology and molecular characteristics, but which simply share an anatomical appearance. Recent findings have indicated that several types of ovarian cancer classified into different histotypes are in fact derived from non-ovarian issues and share few molecular similarities. Within this context, ovarian cancer screening and diagnosis can be made through the evaluation of circulating tumor cells in peripheral blood using liquid biopsy technologies. Advances in the study of various molecules analyzed by liquid biopsy have shown that elucidation of intratumoural and intertumoural heterogeneity and spatial and temporal tumor evolution could be traced by serial blood tests rather than by histopathological analyses of tissue samples from a primary tumor. Therefore, evaluation of some molecules such as circulating tumor cells (CTC), circulating tumor DNA (ctDNA), circulating cell-free RNA (non-coding and mRNA, extracellular vesicles), tumor-educated platelets or different miRNAs using liquid biopsy could lead to improvement of patient management.

SARS-CoV-2 is the virus associated with the disease called COVID-19 and become a global pandemic. The only way to prevent its severe scenarios is through timely and rapid testing. In comparison to more time taking gold-standard RT-PCR testing, rapid diagnostic kits are used. For better prevention and diagnosis of SARS-CoV-2, the analysis of rapid diagnostic kits' accuracy and specificity is necessary. This study is meant to assess and examine the viability, responsiveness, and explicitness of quick antigen distinguishing nasopharyngeal swabs (NPS), and saliva-based units. The study was conducted on 200 suspected COVID-19 patients from Islamabad, 100 of which were RT-PCR positive while 100 were RT-PCR negative. For the analysis of Rapid diagnostic COVID-19 kits (RDT), nasopharyngeal swabs (NPS) and saliva samples were taken from the RT-PCR positive and negative patients. Among 100 RT-PCR positive patients, 62% were males (19 - 91 years), 34% were females (20 - 78 years) and 4% were children (6 - 17 years). False-negative results were significantly more observed in saliva-based RDTs of the sample (49%) as compared to nasopharyngeal swab RDT (38%). There were 2% invalid results in saliva-based RDT and 3% invalid results in Nasopharyngeal swab RDT. While among 100 RT-PCR negative patients 69% were males (19 - 80 yrs), 27% were females (18 - 77 yrs) and 4% were children (12 - 16 yrs.). False positive results were significantly more in saliva-based RDT (22%) as compared to Nasopharyngeal swab RDT (13%). The sensitivity and specificity of saliva-based RDT were 67% and 87% respectively while that of Nasopharyngeal swab (NPS) was 72% and 82% respectively, both of which were less than the gold standard RT-PCR sensitivity demanding the introduction of more sensitive RDT kits in Pakistan for accurate detection of COVID-19.

Among the conditioning factors of Diabetic Foot (DF), neuropathy is considered the main factor, arteriopathy the aggravating factor, and foot deformities the triggering factor. The preventive interventions for DF and its complications are distributed by levels of care. At the higher level, hospital care focuses on reducing DF amputations. At the lower level, Primary Care (PC) and Podiatry, focused on preventing DF. PC is considered the ideal place to identify the conditioning factors of DF. In this area, prevention follows the recommendations of the International Working Group on Diabetic Foot (IWGDF) by screening neuropathy focused on the sensitive or insensitive foot. The American Diabetes Association (ADA) a recommends person-centered assessment of neuropathy by clinical examination of symptoms and signs testing sensory, motor, and autonomic neuropathy. This controversy lead us to investigate which methodology (screening or clinical examination) could be more accurate in identifying the conditioning factors of DF in a group of people recruited in the TERMOPIEDI study. Neuropathy was assessed following the definition of diabetic neuropathy, the Young MJ diagnostic criteria, and the Toronto Council diagnostic category. These results allowed us to know the applicability of this procedure in PC within nursing competencies, detecting a greater number of patients with neuropathy compared to the screening method. People with neuropathy presented higher plantar temperature, concluding that neuropathy interferes with foot thermoregulation.

Congenital cystic adenomatoid malformation of the lung (CCAM) is characterized by an adenomatoid proliferation of bronchiole-like structures and cysts formation. The condition is most commonly found in newborns and children and may be associated with other malformations; rarely, the presentation is delayed until adulthood. We herein report two cases of CCAM in adult patients. 22 years old healthy female with pre-employment health screening chest x-Ray showed a lesion in the upper lobe of the right lung. In another case, a computed tomographic scan of the thorax (CT) confirmed a mass in the upper right lung. A 28-year-old male presented with recurrent respiratory tract infection resistant to antimicrobial therapy. CT scan of the thorax showed a mass in the left lung upper zone. Surgical resection was performed in both cases, and histopathology of the resected specimen showed both cases were consistent with the CCAM.

Prescriptions for psychoactive substances such as Pregabalin, Methamphetamine, Caffeine, Clonazepam and Mirtazapine (PM-CCM) are common in the treatment of a variety of disorders. Indeed, the PM-CCM has been used in different therapeutic areas, including insomnia, anxiety, seizure disorders, etc. Unfortunately, these psychoactive substances are present in the illegal street market, leading to a lot of drug abuse among some addicted users, road insecurity and suicide. Hence, it has become essential to validate and develop a rapid and effective method to analyze the PM-CCM, a modified illicit drug, for drug abuse in the forensic sciences. A simple, rapid, specific and sensitive Gas Chromatography-Mass Spectrometry(GC-MS) method has been developed for the identification of Pregabalin, Methamphetamine, Caffeine, Clonazepam and Mirtazapine (PM-CCM) in forensic exhibits. At room temperature, the sample was ultrasonicated for 5 minutes before being extracted with methanol. A highly precise auto-injector is used to inject a very small quantity of samples for analysis. Helium is used as a carrier gas with a flow rate of 1 ml/min. The separation of PM-CCM was performed on SH-RXi-5 MS, ID.25 mm, film thickness. 25 µm, length of 30 m column. The constituents of PM-CCM were identified by the mass-to-charge ratio (m/z ratio) of fragments of the parent compound by comparing them with the NIST-17 MS Library. Separation and identification of PM-CCM were achieved within a 15-minute run. The proposed method has been successfully used for the routine analysis of PM-CCM in complex illicit drug preparations and in forensic exhibits as well. The application of above discussed qualitative analysis method and screening of PM-CCM, modified illicit drug samples demonstrates the potential and applicability of the technique to the fast chemical profiling of illicit samples.  

Targeted screening for Cytomegalovirus (CMV) in Deaf and Hard of Hearing (DHH) children is now internationally recommended. With newborn genomic screening for DHH children a future possibility, the commercially-available human genomic DNA collection kit (ORACollect, Oragene OCR-100) could enable one single sample to screen for CMV and genetic causes of deafness at scale with minimal additional costs. Our pilot study validated ORACollect against Copan FLOQswabs® (gold standard clinical procedure) for detecting CMV using 15 sets of saliva samples from 14 infants/children, comparing CMV PCR results using different testing protocols. ORACollect stored at room temperature had high sensitivity (up to 89%), specificity (up to 80%) and percent agreement (up to 86%) in detecting CMV DNA compared to FLOQswabs®. This suggests that ORACollect is an appropriate alternative to FLOQswabs® for collecting viral CMV DNA for PCR testing, independent of the DNA extraction approach. This could be revolutionary in facilitating dual genomic and viral screening in newborns and would enable CMV screening in non-tertiary hospital settings where laboratory facilities are not available.

Aims: There is no study in the literature about ischemia-modified albumin (IMA) and hepatocyte growth factor (HGF) levels in amniotic fluid for Down syndrome cases. The aim of this study was to investigate the changes of IMA and HGF in Down syndrome cases at 16-20 weeks of gestation compared to normal fetuses.Methods: For this prospective case-control study, following reaching the number of 20 women (study group) who had the prenatal diagnosis of Down syndrome, maternal and gestational age-matched pregnant women with normal constitutional karyotype were selected for the control group (n = 74) from the stored amniotic fluid samples. Results: Mean women and gestational ages were comparable between the two groups. Amniotic fluid IMA (1.32 ± 0.13 vs. 1.11 ± 0.11 ABSU, respectively, p < 0.001) and HGF (2743.53 ± 1389.28 vs. 2160.12 ± 654.63 pg/mL, respectively, p = 0.008). Levels were significantly higher in pregnant women having Down syndrome fetuses compared with women having normal fetuses. The amniotic fluid IMA levels for the diagnosis of Down syndrome, and the sensitivity and specificity were calculated as 95.0% and 71.6% for the limit value 1.171 cm3, respectively. Conclusion: In cases with suspected Down syndrome, the diagnosis of Down Syndrome may be made in approximately 1 hour with high sensitivity and specificity by measuring the IMA level in the amniotic fluid sample taken for fetal karyotyping.

Although intussusception occurs in children and adults with celiac disease, it is a relatively uncommon symptom. Even more rare is the occurrence of intussusception as the presenting symptom of the disease. In the two cases we report here, transient intussusception, occurring at three years of age, was the first and only physical sign of celiac disease, and lead to a timely diagnosis by immunoserology and histology, followed by implementation of a gluten-free diet before sequelae such as significant anemia or Failure to Thrive (FTT) developed. In both cases, neither immunoserological nor physical signs of disease were present at the follow-up examination after 6 months on a gluten-free diet. In addition, genetic screening of the patients’ families revealed HLA-DQ2 positivity in two cases, leading to the additional diagnosis of celiac disease in the pregnant mother of one of the patients.