Do physicians know when to refer patients for genetic testing?

Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76-83%). The remaining five had lower percentages (range, 22-55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.

Sleep scoring in rodents: Criteria, automatic approaches and outstanding issues.

There is nothing we spend as much time on in our lives as we do sleeping, which makes it even more surprising that we currently do not know why we need to sleep. Most of the research addressing this question is performed in rodents to allow for invasive, mechanistic approaches. However, in contrast to human sleep, we currently do not have shared and agreed upon standards on sleep states in rodents. In this article, we present an overview on sleep stages in humans and rodents and a historical perspective on the development of automatic sleep scoring systems in rodents. Further, we highlight specific issues in rodent sleep that also call into question some of the standards used in human sleep research.

Optimizing fiber and protein levels in diet of lactating Murrah buffaloes to ameliorate heat stress: Effect on physiological status and production performance.

The objective of study was to assess the outcome of feeding six total mixed rations (TMR), differing in NDF and protein content, for their synergistic effect on ameliorating heat load of lactating Murrah buffaloes evident through improved physiological and production performance. Thirty six lactating Murrah buffaloes (587 ± 12.3, MY 9 ± 2.2, Parity 2.5 ± 1.5) were arranged in a 3 × 2 factorial design with three levels of dietary NDF (30, 34.5 and 37% dietary NDF) and two levels of metabolizable protein (MP; 7.0% and 8.4%). Buffaloes were fed either of six dietary treatments: 30%NDF; 7.0% MP (CF1, as recommended), 34.5%NDF; 7.0% MP (MF1), 37%NDF; 7.0% MP (HF1), 30%NDF; 8.4% MP (CF2), 34.5%NDF; 8.4% MP (MF2) and 37%NDF; 8.4% MP (HF2). TMR offered with maize silage and respective concentrate for 90 days feeding trial. Fortnightly feed samples and weekly milk samples collection was done for analyses. Metabolic trial conducted in mid of experiment for estimating nutrient digestibility. Throughout the trial, THI level (79.7-83.8) denoted that buffaloes were exposed to stressful environment. Higher MP in diet reduced pulse rate in buffaloes as compared with lower MP diet. Rectal temperature was lower in Murrah buffaloes fed MF2 diet whereas; minimum breathing rate was recorded for high protein fed group. The MF2 diet increased dry matter intake (kg/d) by 2.7%, milk yield (kg/d) by 8.3% and feed efficiency (milk/DMI) by 7.2% as compared with CF1 group indicating reduced heat load. Increase in protein intake along with improved protein digestibility in MF2 group was recorded. Measured 6%FCM and ECM (kg/d), milk fat (%) and total solid (%) were higher in MF2 treatment group. Results revealed that 34.5% NDF and 8.4% MP have a positive influence on amelioration of heat stress in present experimental conditions.

Professionalism and inter-communication skills (ICS): a multi-site validity study assessing proficiency in core competencies and milestones in medical learners.

BACKGROUND: Interpersonal and Communication Skills (ICS) and Professionalism milestones are challenging to evaluate during medical training. Paucity in proficiency, direction and validity evidence of assessment tools of these milestones warrants further research. We validated the reliability of the previously-piloted Instrument for Communication skills and Professionalism Assessment (InCoPrA) in medical learners. METHODS: This validity approach was guided by the rigorous Kane's Framework. Faculty-raters and standardized patients (SPs) used their respective InCoPrA sub-component to assess distinctive domains pertinent to ICS and Professionalism through multiple expert-built simulated-scenarios comparable to usual care. Evaluations included; inter-rater reliability of the faculty total score; the correlation between the total score by the SPs; and the average of the total score by two-faculty members. Participants were surveyed regarding acceptability, realism, and applicability of this experience. RESULTS: Eighty trainees and 25 faculty-raters from five medical residency training sites participated. ICC of the total score between faculty-raters was generally moderate (ICC range 0.44-0.58). There was on average a moderate linear relationship between the SPs and faculty total scores (Pearson correlations range 0.23-0.44). Majority of participants ascertained receiving a meaningful, immediate, and comprehensive patient-faculty feedback. CONCLUSIONS: This work substantiated that InCoPrA was a reliable, standardized, evidence-based, and user-friendly assessment tool for ICS and Professionalism milestones. Validating InCoPrA showed generally-moderate agreeability and high acceptability. Using InCoPrA also promoted engaging all stakeholders in medical education and training-faculty, learners, and SPs-using simulation-media as pathway for comprehensive feedback of milestones growth.

Photonically-enabled RF front-end for wideband flexible down-conversion.

We demonstrate a flexible RF photonics down-converter that enables spectral folding of a 2-18 GHz RF band into a common 2 GHz wide intermediate frequency (IF) band for identification of specific signals of interest. The system can then be reconfigured for selective down-conversion of a given sub-band to a common IF output. We present an analysis of the performance of the down-converter and experimentally demonstrate both the spectral folding and selective modes. A sensitivity of -42 dBm in an IF bandwidth of 2 GHz and a spurious free dynamic range of 103 dB.Hz2/3 is achieved in the spectral folding mode.

Enhancement of out-of-band rejection in optical filters based on phase-sensitive amplification.

We present a novel optical filter based on amplification and deamplification in a phase-sensitive amplifier (PSA), whose out-of-band rejection is enhanced by slightly imbalancing the inputs to the PSA. The out-of-band rejection of the PSA-based filter with balanced input signal and idler powers is given by G2 in the optical domain, where G is the maximum phase-sensitive gain. By unbalancing the input to the PSA, the optical out-of-band rejection is significantly enhanced beyond G2, thus enabling filters with high rejection even with moderate-gain PSAs. We demonstrate a filter with optical and electrical extinctions of 29 dB and 60 dB, respectively, using a moderate PSA gain of only 10 dB. Further, this technique allows for ultrawideband frequency tuning, spanning multiterahertz bandwidths along with filter response reconfigurability. These novel concepts will be invaluable for optical signal processing in high-performance analog and digital systems.

Extracorporeal Membrane Oxygenation-Supported Patient Outcome Undergoing Transcatheter Aortic Valve Replacement.

The efficacy and safety of extracorporeal membrane oxygenation (ECMO) support during transcatheter aortic valve replacement (TAVR) remains unknown. We conducted a meta-analysis to compare benefit and risk of ECMO in TAVR patients. Bibliographic databases were searched from inception to January 1, 2024. Included studies involved patients ≥18 years old undergoing TAVR and using ECMO emergently or prophylactically. Mortality and procedure success were primary outcomes. Peri- or postoperative complications were the secondary outcomes. We identified 11 observational studies, including 2,275 participants (415 ECMO and 1,860 non-ECMO). The unadjusted mortality risk in ECMO-supported patient was higher than non-ECMO patients (odds ratio [OR] 1.73). The mortality unadjusted risk remained high (OR 3.89) and statistically significant for prophylactic ECMO. Prophylactic ECMO had lower mortality risk compared with emergent ECMO (OR 0.17). Extracorporeal membrane oxygenation-supported patients had lower procedural success rate (OR 0.10). Extracorporeal membrane oxygenation patients undergoing TAVR had significantly increased risk of bleeding (OR 3.32), renal failure (OR 2.38), postoperative myocardial infarction (OR 1.89), and stroke (OR 2.32) compared with non-ECMO patients. Clinical results are not improved by ECMO support in patients with high-risk TAVR. Prophylactic ECMO outperforms emergent. Overall, ECMO support increases mortality and postoperative complications. Transcatheter aortic valve replacement outcomes may improve with prophylactic ECMO in high-risk situations.

Free-space to single-mode collection efficiency enhancement using photonic lanterns.

We demonstrate single-mode collection efficiency enhancement for free space optical systems using a photonic lantern to collect scattered infrared light from diffuse objects at far- and near-field distances. A single-mode collection efficiency improvement of ∼8 dB is demonstrated in the near-field region relative to standard single-mode fiber. The insertion loss properties of the photonic lantern are also analyzed, and an additional insertion loss penalty is observed for near-field distances when the transmitted beam is collimated. The photonic lantern can be used for coherent detection systems such as light detection and ranging and free-space optical communication with improved collection efficiency and nearly perfect mode matching.

Evaluation of the Current Bacterial Pathogens and Antibiogram of Chronic Suppurative Otitis Media in Adults.

To determine the bacterial pathogens in chronic suppurative otitis media (CSOM) & the antibiotic susceptibility patterns of isolates among patients. A total of 400 patients clinically diagnosed with CSOM were interviewed &middle-ear effusion samples were collected using sterile swabs. All bacterial isolates were identified by conventional microbiological methods. Antibiotic susceptibility patterns of the isolates were determined by Kirby-Bauer disc diffusion. Pseudomonas aeruginosa (30.25%) were the most prevalent bacteria isolated, followed by S. aureus (MSSA) (18.5%) & MRSA (8.25%). The most effective antibiotic for treatment of bacterial CSOM was amikacin & ciprofloxacin. Statistical analysis showed no significant difference in bacterial infestations among CSOM patients & the antimicrobial susceptibility patterns of the bacterial isolates based on age (p > 0.05). The importance of a continuous & annual evaluation of bacteriological profile & antibiotic susceptibility patterns in CSOM patients is highlighted in our study.

Effect of Vitamin E Supplementation on Hematological and Plasma Biochemical Parameters during Long Term Exposure of Arsenic in Goats.

The present investigation was designed to determine whether supplementation of different level of vitamin E for 12 months to arsenic exposed goats (50 ppm as sodium arsenite) affords protection against the blood hemato-biochemical parameters caused by the metalloid. A total of 24 crossbred (Alpine×Beetal) lactating goats were assigned randomly into 4 equal groups (control, T1, T2 and T3) of 6 in each, on the basis of average body weight (36.10±0.11 kg) and milk yield (1.61±0.04 kg/d). The animals in T1, T2 and T3 were given 50 ppm arsenic, while in T2 and T3, additionally; vitamin E at the rate of 100 IU and 150 IU/kg dry matter (DM) respectively was additionally supplemented for the period of 12 months. Hemoglobin (Hb), total leukocyte (TLC) and blood lymphocyte % were decreased (p<0.05) in arsenic fed groups and vitamin E supplementation in the experimental group showed a protective potential. Significant increases (p<0.05) in aspertate transaminase (AST) and alanine transaminase (ALT) activities among arsenic supplemented groups were recorded, however vitamin E supplementation at higher doses showed a protective effect (p<0.05) against AST but in the case of ALT no ameliorating effect was found in either of the doses. Plasma total protein was decreased (p>0.05) but creatinine level was periodically increased in all As supplemented groups and vitamin E supplementation did not produce any protective effect. It can be concluded that arsenic exposure resulted in varying degree of changes in hemato-biochemical parameters and activities of antioxidant enzymes in goats but concomitant treatment with Vitamin E is partially helpful in reducing the burden of arsenic induced effect.

Perception of dental students towards the online method of dental education during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has changed the education system drastically. The shift from traditional learning to online mode during the quarantine period affected dental education substantially. The present study aimed to determine the impact of online learning on dental education and the potential challenges being faced by the dental students. METHODS: An online survey-based questionnaire was distributed to 103 BDS students and feedback was recorded. RESULTS: The study yielded a response rate of 57% comprising of female(56%)and male(44%) respondents. The participants were categorized into two groups with age brackets of 22 years& above. Majority of the female students (86.2%) were more inclined towards offline learning than male students (57.8%) (p = 0.001). More predilection for offline mode was observed in 83% of the students (>22 years of age) than 66.1%students (<22 years) (p = 0.05).BDS 1st (59.6%),2nd (74.1%) 3rd (93.8%)& 4th year (100%) students preferred offline mode for exams (p = 0.005). Most of the students (77.7%) including male (86.7%) and female (70.6%) (p = 0.05) strongly disagreed to continue E-learning in future. The students (<22 years) (98.2%) were more accessible to the internet than students (>22 years) (93.2%) (p = 0.02). The students (>22 years) found more difficulty in using different online platforms (87.2%) than students (<22 years) i.e., 69.6% (p = 0.03).BDS 3rd and 4th year (100%) appeared for the exams in greater numbers than BDS 1st year (76.6%) and 2nd year (92.6%) (p = 0.02). CONCLUSION: Online learning had a detrimental impact on dental education. The students agreed that online mode cannot substitute conventional face-to-face learning.

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record.

INTRODUCTION: Family health history can be a valuable indicator of risk to develop certain cancers. Unfortunately, patient self-reported family history often contains inaccuracies, which might change recommendations for cancer screening. We endeavored to understand the difference between a patient's self-reported family history and their electronic medical record (EMR) family history. One aim of this study was to determine if family history information contained in the EMR differs from patient-reported family history collected using a focused questionnaire. METHODS: We created the Hereditary Cancer Questionnaire (HCQ) based on current guidelines and distributed to 314 patients in the Department of Family Medicine waiting room June 20 to August 1, 2018. The survey queried patients about specific cancers within their biological family to assess their risk of an inherited cancer syndrome. We used the questionnaire responses as a baseline when comparing family histories in the medical record. RESULTS: Agreement between the EMR and the questionnaire data decreased as the patients' risk for familial cancer increased. Meaning that the more significant a patient's family cancer history, the less likely it was to be recorded accurately and consistently in the EMR. Patients with low-risk levels, or fewer instances of cancer in the family, had more consistencies between the EMR and the questionnaire. CONCLUSIONS: Given that physicians often make recommendations on incomplete information that is in the EMR, patients might not receive individualized preventive care based on a more complete family cancer history. This is especially true for individuals with more complicated and significant family history of cancer. An improved method of collecting family history, including increasing patient engagement, may help to decrease this disparity.

A deep learning framework for inference of single-trial neural population dynamics from calcium imaging with subframe temporal resolution.

In many areas of the brain, neural populations act as a coordinated network whose state is tied to behavior on a millisecond timescale. Two-photon (2p) calcium imaging is a powerful tool to probe such network-scale phenomena. However, estimating the network state and dynamics from 2p measurements has proven challenging because of noise, inherent nonlinearities and limitations on temporal resolution. Here we describe Recurrent Autoencoder for Discovering Imaged Calcium Latents (RADICaL), a deep learning method to overcome these limitations at the population level. RADICaL extends methods that exploit dynamics in spiking activity for application to deconvolved calcium signals, whose statistics and temporal dynamics are quite distinct from electrophysiologically recorded spikes. It incorporates a new network training strategy that capitalizes on the timing of 2p sampling to recover network dynamics with high temporal precision. In synthetic tests, RADICaL infers the network state more accurately than previous methods, particularly for high-frequency components. In 2p recordings from sensorimotor areas in mice performing a forelimb reach task, RADICaL infers network state with close correspondence to single-trial variations in behavior and maintains high-quality inference even when neuronal populations are substantially reduced.

Prevalence of Asymptomatic Bacteriuria and Antimicrobial Resistance Profile among Pregnant Females in a Tertiary Care Hospital.

BACKGROUND AND OBJECTIVES: Urinary tract infection (UTI) is the most common clinical finding during pregnancy, and if it is asymptomatic bacteriuria (ASB), it can progress to pyelonephritis, leading to further complications. The present study aims to know the prevalence of ASB in pregnant females and the antimicrobial resistance pattern in our hospital setup. MATERIALS AND METHODS: A total of 552 urine samples were collected from pregnant females (with no symptoms of UTI) both attending outpatient department and admitted in the wards of obstetrics and gynecology department. Urine culture was performed on blood agar, MacConkey agar, and UTI chromogenic agar. Antibiotic sensitivity test was done using Kirby-Bauer disc diffusion method, and the results were interpreted. RESULTS: The prevalence rate of ASB in pregnant females was 17.4%. It was common in the age group of 25-33 years (60.4%). The infection rate was higher in the second trimester (43.7%) compared to the third (29.2%) and first (27.1%) trimester. Multiparity (60.4%) was a common finding in ASB during pregnancy. There was a significant finding of previous history of UTI (22.9%) and anemia (58.3%) associated with ASB in pregnant females. Escherichia coli (39.2%) was the most common microorganism isolated followed by Staphylococcus aureus (34.3%), Enterococcus faecalis (14.7%), Klebsiella (4.9%), coagulase-negative Staphylococcus spp. (2.9%), and Citrobacter and Acinetobacter (1.9%). Most sensitive drugs to be given in ASB during pregnancy were nitrofurantoin and fosfomycin. CONCLUSION: It was emphasized that urine culture should be done in early antenatal visit as routine screening to identify ASB in pregnant females as it can prevent fetal and maternal complications.

Thermally-efficient reconfigurable narrowband RF-photonic filter.

We present the design and fabrication of thermally-efficient tuning structures integrated into a narrowband reconfigurable radio-frequency (RF)-photonics filter using silicon-on-insulator waveguide optical delay lines. By introducing thermal isolation trenching, we are able to achieve IIR, FIR or arbitrary mixed response with less than 120 mW average tuning power in a single RF-photonic unit cell filter.

Decoding the small size challenges of mini-tablets for enhanced dose flexibility and micro-dosing.

Mini-tablets are an age appropriate dosage form for oral administration to pediatric and geriatric patients, either as individual mini-tablets or as composite dosage units. Smaller size mini-tablets than the commonly used 2 mm or larger size would offer more tailored micro-dose delivery of investigational drugs. This work demonstrated drug substance particle size, drug loading and mini-tablet size ranges to achieve acceptable quality attributes of mini-tablets. A platform formulation with 60, 80, and 100 µm (particle size D6,3) ibuprofen at 3, 14, and 25% loadings were directly compressed into 1.2, 1.5, 2, and 2.5 mm diameter mini-tablets. With an enhanced weight control approach, all the mini-tablet batches except the 1.2 mm diameter mini-tablets with 100 µm ibuprofen at 3% loading would achieve acceptable content uniformity as individual mini-tablets (USP <905> L2 criteria) and as composite dosage units of five or more mini-tablets (USP <905> L1 criteria). A dissolution method was developed and successfully utilized to evaluate the formulations herein. Small size mini-tablets, small ibuprofen particle size, and low dose (or low ibuprofen loading) enhanced the dissolution performance. In addition, hypothetical scenarios of potential dose flexibility, dose range, dose titration, and excipient burden were discussed. The results of this study provide guidance for development of smaller size mini-tablets that enable dosing as a single or composite dosage unit, reduce excipient burden and leverage dispensing technology to achieve enhanced dosing flexibility and micro-dosing.

CD-insensitive PMD monitoring of a high-speed polarization-multiplexed data channel.

We experimentally demonstrate a polarization-mode dispersion (PMD) monitoring technique that is insensitive to chromatic dispersion (CD) utilizing a polarizer and a low-speed detector for an 80-Gb/s polarization-multiplexed return-to-zero differential phase-shift-keying (pol-muxed RZ-DPSK) data channel. Measured RF power increment of 16.2 dB, which is insensitive to 0 approximately 100 ps/nm CD, is measured in the presence of the increasing differential group delay (DGD) from 0 to 12 ps. High-speed components are not required for monitoring the PMD on the pol-muxed data channel, which means that the proposed technique is potentially applicable to the higher speed pol-muxed data channels.

Biopsy-proven progressive multifocal leukoencephalopathy in a renal transplant patient.

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease that affects immunocompromised hosts. Most often the disease is reported in association with leukemia, lymphoma, and AIDS. With recent advancements in immunosuppressive medications and subsequent rise in solid organ transplantations, it is becoming more prevalent in this population. Both the diagnosis and treatment of PML remains a challenge to the transplant community. The disease remains mostly underreported and undertreated. The diagnostic uncertainty in a renal transplant patient leads us to do the brain biopsy for suspicion and confirmation of PML.

A miraculous recovery: Bartonella henselae infection following a red ant bite.

Infections caused by the Bartonella species are responsible for the human diseases collectively called 'bartonellosis'. The clinically important human infections are mostly caused by the three species (eg, B. bacilliformis, B. quintana and B. henselae) of Bartonella out of the many progressively increasing identified species. Bartonella henselae transmitted by the arthropod vector, fleas, after cat bite is responsible for the rare multisystem cat scratch disease in humans. We present an extremely rare case of B. henselae contracted presumably through a red ant bite. The patient had a prolonged hospital stay for persistent encephalopathy due to delay in diagnosis and initiation of antimicrobial therapy. His hospital course was complicated by two episodes of pulseless electrical activity cardiac arrest related to pulmonary embolism. However, he recovered to his baseline status in the hospital with timely administration of systemic anticoagulation and antimicrobials. He was discharged home with no neurological deficits.