Clinical Utility of the Prenatal BACs-on-Beads™ Assay in Invasive Prenatal Diagnosis

Background: The prenatal BACs-on-Beads™ (PNBoBs™) assay has been applied worldwide for prenatal diagnosis. However, there are neither guidelines nor consensus on choosing patients, sample types, or clinical pathways for using this technique. Moreover, different perspectives have emerged regarding its clinical value. This study aimed to evaluate its clinical utility in the context of clinical practice located in a prenatal diagnostic center in Xiamen, a city in southeast China.Methods: We tested 2,368 prenatal samples with multiple referral indications using both conventional karyotyping and PNBoBs™. Positive results from PNBoBs™ were verified using current gold-standard approaches.Results: The overall rates for the detection of pathogenic copy number variation (pCNV) by karyotyping and PNBoBs™ were 1.9% (46/2,368) and 2.0% (48/2,368), respectively. The overall detection rate of karyotyping combined with PNBoBs™ for pCNV was 2.3% (54/2,368). A total of 13 cases of copy number variation (CNV)with a normal karyotype were detected by PNBoBs™. Another case with a normal karyotype that was detected as a CNV of sex chromosomes by PNBoBs™ was validated to be maternal cell contamination by short tandem repeat analysis.Conclusion: Karyotyping combined with PNBoBs™ can improve both the yield and efficiency of prenatal diagnosis and is appropriate in the second trimester in all patients without fetal ultrasound anomalies who undergo invasive prenatal diagnosis.

The femur too short? 1373 fetuses with short femur during second-trimester screening

Purpose A short fetal femur in prenatal diagnosis might be an indicator for intrauterine growth retardation (IUGR), a genetically determined small child (SGA) with or without associated fetal malformations and/or an adverse fetal outcome. Methods 1373 singleton pregnancies with a femoral length < 5th percentile detected between 1999 and 2015 during second-trimester screening in a tertiary prenatal diagnostic center were subjected to a descriptive retrospective analysis with regard to fetal characteristics as well as pregnancy outcome. Results 685 (49.9%) fetuses presented an isolated short femur, while 688 (50.1%) showed additional abnormalities. 293 (42.6%) of those were SGA babies without any malformation, while 395 (57.4%) had one or more severe anomaly of the following organ systems: 157 (11.5%) cardiovascular, 101 (7.4%) musculoskeletal, 82 (6.0%) urogenital, 72 (5.2%) cerebrocephalic, 50 (3.6%) gastrointestinal, and 5 (0.4%) thoracic. 75 (5.5%) of the fetuses showed chromosomal aberrations of which Trisomy 13, 18 and 21 were found in 2, 13 and 27 of the cases, respectively. Fetuses with associated malformations had a significantly lower live birth rate than those without (64.2% vs. 98.1%, p < 0.001); in addition, a higher rate of preterm births 36.6% vs. 11.3%, p < 0.001) and SGA babies (51.4% vs. 30.4%, p < 0.001) were observed in the first collective. Conclusion Diagnosis of a short fetal femur should lead to an extended organ screening; in the case of associated abnormalities, additional genetic testing has to be offered, as well as intensified pregnancy monitoring in pregnancies at risk for IUGR and/or preterm birth.

Elicitation of Hidden Expectations of Customers in Healthcare Service

In healthcare service, the customer feedback is often incomplete unless the unexpressed expectations are captured at the right time. These latent feelings and opinions are the ‘hidden expectations’ which are the quality indicators of the service offered. This short communication paper describes a couple of techniques for elicitation of hidden expectations of customers in the context of healthcare services. As an illustration, the paper depicts the application of these techniques for identification and prioritization of hidden expectations at a diagnostic center. Any organization in healthcare service sector could employ these techniques quickly and conveniently to improve quality of service thereby enhancing customer satisfaction. Keywords: Elicitation, Customer satisfaction, Hidden expectation, MoSCoW, Healthcare.

Gynecological aspects in the trends in morbidity and mortality from cancer of the reproductive system

The article discusses the incidence rates of cancer of the reproductive system organs (mammary gland, endometrium, ovaries, cervix) in Moscow in 1999, analyzes the trend of these indicators over the past 10 years, substantiates the need to revise the principles of the primary care of the obstetric and gynecological service (female consultations), a model of a gynecological diagnostic center is proposed

Modern Management: Methods of Managing the Clinical and Diagnostic Center «Med-Art» with a Patient Orientation and Resource Saving

In modern conditions, the effectiveness of the functioning of any medical organization is determined not only by the availability of the latest equipment and qualified personnel, but also by the introduction of innovative technologies in medicine and management

Identification of pathogens in respiratory samples of shelter cats in New York State

ObjectivesUpper respiratory tract disease (URTD) is common across feline populations. Feline coronavirus (FCoV) frequently circulates widely and has occasionally been noted to have a potential role in respiratory disease. The aim of this cross-sectional pilot study was to investigate common respiratory pathogens and FCoV in shelter cats.MethodsCats were enrolled at two animal shelters in New York state between November 2018 and March 2020 and considered either clinical for URTD or apparently healthy. Respiratory samples were submitted to the Cornell Animal Health Diagnostic Center for routine upper respiratory diagnostic testing. Additional qRT-PCR was performed on respiratory and fecal samples to investigate the presence of FCoV.ResultsFive pathogens were identified in this population: Bordetella, feline calicivirus (FCV), M. felis, panleukopenia, and pneumovirus. FCV was the only pathogen associated with URTD signs. Pneumovirus was identified in two cats. FCoV was present in respiratory samples from one cat, who later developed gastrointestinal disease. Fecal shedding of FCoV was observed in 30% of URTD cases, compared to 11% of cats without URTD, but was not statistically significant. Conclusions and relevanceCommon respiratory pathogens were identified in cats with and without URTD. One cat tested positive for FCoV in a respiratory sample; FCoV shedding the feces was common, but not statistically significant, in cats with respiratory disease. Two cats were identified as shedding pneumovirus. The significance of pneumovirus to feline respiratory disease remains unknown and in further need of study.

Evaluation of chest computed tomography features in COVID-19: a single-center retrospective study

Background: Even though Real-Time Polymerase Chain Reaction (RT-PCR) is a gold standard for confirming COVID-19, it continues to be plagued by a lack of RT-PCR kits and the potential of false-negative results. Hence, during the second wave of COVID-19 in India, Computed Tomography (CT) scan is an emerging diagnostic tool in evaluating the severity of illness in COVID-19 pneumonia. The present study endeavored to assess chest CT features of COVID-19 pneumonia in Indian population. Methods: This was a single-center, retrospective, observational study conducted in 300 consecutive adults RT-PCR confirmed COVID-19 patients from 1, Jan 2021 to 31, March 2021 at a private radio diagnostic center. Data regarding baseline demographics, clinical and laboratory characteristics, extent, pattern, and type of abnormal CT findings were noted. Results: The study population (204 males and 108 females) had mean age of 43.18 ± 8.27 years. Our study's most common clinical presentation was cough (48.1%) and fever (47.1%), respectively. Lung parenchymal abnormalities were found in 294 (94.2%) patients. Abnormal CT findings revealed the involvement of bilateral (45.6%) and multilobar (42.9%) with a predominant peripheral (92.3%) and posterior (80.8%) distribution. According to the type of opacity, Ground Glass Opacity (GGO) was the dominant abnormality found in 270 (91.8%) patients, in which pure GGO (36.7%), GGO with crazy paving pattern (39.8%), and GGO mixed with consolidation (52.0 %) were noted. Peri-lesional or intralesional segmental or subsegmental pulmonary vessel enlargement was found in 192 (65.3 %) patients. Conclusion: During the second wave of COVID-19, a chest CT scan is a modality of choice in diagnosing COVID-19 pneumonia and related lung parenchymal changes.

Factors Associated with Serum Vitamin D Metabolites and Vitamin D Metabolite Ratios in Premenopausal Women

The most representative indicator of vitamin D status in clinical practice is 25(OH)D3, but new biomarkers could improve the assessment of vitamin D status and metabolism. The objective of this study is to investigate the association of serum vitamin D metabolites and vitamin D metabolite ratios (VMRs) with potentially influential factors in premenopausal women. This is a cross-sectional study based on 1422 women, aged 39–50, recruited from a Madrid Medical Diagnostic Center. Participants answered an epidemiological and a food frequency questionnaire. Serum vitamin D metabolites were determined using an SPE–LC–MS/MS platform. The association between participant’s characteristics, vitamin D metabolites, and VMRs was quantified by multiple linear regression models. Mean 25(OH)D3 concentration was 49.2 + 18.9 nmol/L, with greater deficits among obese, nulliparous, dark-skinned women, and with less sun exposure. A lower R2 ratio (1,25(OH)2D3/25(OH)D3) and a higher R4 (24,25(OH)2D3/1,25(OH)2D3) were observed in nulliparous women, with high sun exposure, and those with low caloric intake or high consumption of calcium, vitamin D supplements, or alcohol. Nulliparous women had lower R1 (25(OH)D3/Vit D3) and R3 (24,25(OH)2D3/25(OH)D3), and older women showed lower R3 and R4. Vitamin D status modified the association of the VMRs with seasons. VMRs can be complementary indicators of vitamin D status and its endogenous metabolism, and reveal the influence of certain individual characteristics on the expression of hydroxylase enzymes.

Antiangiogenic therapy for patients with choroidal neovascularization in the facilities of Viveya Consultive and Diagnostic Center

The development of choroidal neovascularization (CNV) is one of the unfavorable variants of the course of such retinal diseases as age-related macular degeneration (AMD), post-thrombotic retinopathy, complicated myopia, diabetic retinopathy and is the cause of irreversible vision loss in people of the older age group. Over the past decade, with the introduction of anti-VEGF-npenapates (drugs that inhibit neoangiogenesis), a revolution has occurred in the treatment of this pathology, which made it possible not only to preserve, but also to improve the vision of patients. Since 2011, the widespread use of intravitreal injections of the drug "Ranibizumab" has begun in Russia, and since 2016, "Aflibercept", but one of the lowest rates of use of this type of treatment remains in Russia. Since May 2020, the treatment of patients with CNV by intravitreal administration of the drug Aflibercept (Eilea) has been started at the CDC "Viveya". The presence of the Vivea-based Outpatient Surgery Center allows these manipulations to be carried out on an outpatient basis. Patient management, preoperative general clinical examination in the multidisciplinary medical center "Viveya" allows to reduce the time from diagnosis to the start of treatment, reduce the number of visits, and improve compliance