Category: Statistics

Curr Protoc. 2022 Dec;2(12):e633. doi: 10.1002/cpz1.633.

ABSTRACT

Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs. Trunca and Mendell created models based on a logistic regression analysis of a dataset of over 6000 individuals from over 1000 translocation families. While risk assessments using these models have been offered as a free service for years, this protocol aims to create a sustainable model for genetics professionals to obtain risk estimates for their patients directly. This protocol guides the user through collecting clinical information, using a risk-generating Java program based on the models, and interpreting the program outputs. A practice tutorial is provided to ensure competency in interpretation prior to use. © 2022 Wiley Periodicals LLC. Basic Protocol 1: Estimation of reproductive risks for balanced translocation carriers Basic Protocol 2: Practical examples of typical patient encounters with instructive interpretations.

PMID:36571718 | DOI:10.1002/cpz1.633

Hepatol Int. 2022 Dec 26. doi: 10.1007/s12072-022-10463-z. Online ahead of print.

ABSTRACT

BACKGROUND AND AIM: Acute-on-chronic liver failure (ACLF) is a severe form of alcoholic hepatitis (SAH). We aimed to study the natural course, response to corticosteroids (CS), and the role of the Asian Pacific Association for the Study of Liver (APASL) research consortium (AARC) score in determining clinical outcomes in AH patients.

METHODS: Prospectively collected data from the AARC database were analyzed.

RESULTS: Of the 1249 AH patients, (aged 43.8 ± 10.6 years, 96.9% male, AARC score 9.2 ± 1.9), 38.8% died on a 90 day follow-up. Of these, 150 (12.0%) had mild-moderate AH (MAH), 65 (5.2%) had SAH and 1034 (82.8%) had ACLF. Two hundred and eleven (16.9%) patients received CS, of which 101 (47.87%) were steroid responders by day 7 of Lille’s model, which was associated with improved survival [Hazard ratio (HR) 0.15, 95% CI 0.12-0.19]. AARC-ACLF grade 3 [OR 0.28, 0.14-0.55] was an independent predictor of steroid non-response and mortality [HR 3.29, 2.63-4.11]. Complications increased with degree of liver failure [AARC grade III vs. II vs I], bacterial infections [48.6% vs. 37% vs. 34.7%; p < 0.001); extrahepatic organ failure [66.9% vs. 41.8% vs. 35.4%; p < 0.001] respectively. The AARC score better discriminated 90-day mortality. Harrell’s C-index was 0.72 compared to other scores.

CONCLUSION: Nearly 4 of 5 patients with AH present with ACLF. Such patients have a higher risk of infections, organ failures, lower response to CS, and higher mortality. Patients with AH and ACLF with AARC grade 3 should be considered for an early liver transplant.

PMID:36571711 | DOI:10.1007/s12072-022-10463-z

Sleep Breath. 2022 Dec 26. doi: 10.1007/s11325-022-02766-0. Online ahead of print.

ABSTRACT

STUDY OBJECTIVES: To determine the sensitivity of the Multivariable Apnea Prediction (MAP) index for obstructive sleep apnea (OSA) in pre- and post-menopausal women with the goal of developing a tailored scoring classification approach.

METHODS: Data from two studies (N = 386); the diabetes sleep treatment trial (N = 236) and EMPOWER (N = 150) were used to assess the sensitivity and specificity of the MAP index by comparing men (n = 129) to women (n = 257), and premenopausal (n = 100) to post-menopausal women (n = 136). We evaluated participants at two cut points, apnea-hypopnea index (AHI) values of ≥ 5 and ≥ 10, using 0.5 as a predicted probability cut point to establish baseline sensitivity and specificity. Contingency tables and receiver operating characteristic (ROC) analysis were conducted to evaluate the accuracy of the MAP index in predicting OSA in men versus women, and in pre-versus post-menopausal women. To select optimal predicted probabilities for classification by sex and menopausal status, Youden’s J statistic was generated from ROC coordinates.

RESULTS: The MAP index was more sensitive to women in the AHI ≥ 5 group (76%) compared to AHI ≥ 10 group (30%). Among post-menopausal women with AHI ≥ 5, sensitivity was similar to men (98%), but less than men when AHI ≥ 10 (32%). Suggested probability cut points for women with an AHI ≥ 10 are 0.24 overall; 0.15 for premenopausal, and 0.38 for postmenopausal women.

CONCLUSIONS: Because women’s risk for OSA (AHI ≥ 10) was underestimated by the MAP index, we suggest the use of tailored cut points based on sex and menopausal status or assessing for OSA risk with an AHI of ≥ 5.

PMID:36571709 | DOI:10.1007/s11325-022-02766-0

Int Urol Nephrol. 2022 Dec 26. doi: 10.1007/s11255-022-03432-w. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate the effect of finerenone on cardiovascular events in Kidney Disease and/or Diabetes.

METHODS: The ClinicalTrials.gov, Medline, EMBASE, Web of Science, Cochrane Library databases were systematically searched from the inception dates to December 20, 2021 in order to identify randomized controlled trials that evaluated the effect of finerenone on cardiovascular events in Kidney Disease and/or Diabetes, without language restriction. This meta-analysis collected data from 7 randomized clinical trials that evaluated the effect of finrrenone in 15,618 patients with kidney disease and/or diabetes. Risk of bias was assessed by Cochrane Risk of Bias Assessment Tool. Inconsistency among trial results was assessed by I² statistic. The main endpoints included death from cardiovascular causes, death from any cause, incidence of myocardial infarction, rate of heart failure, hospitalization for any cause, rate of total advent events and study-drug-related adverse events.

RESULTS: A total of 7 randomized controlled trials involving 15,618 fulfilled the inclusion criteria. The outcomes of this meta-analysis presented that finerenone significantly reduced the death from any cause (95% CI 0.82-0.99; P = 0.031), risk of heart failure (95% CI 0.67-0.92; P = 0.002) among patients with kidney disease and/or diabetes when compared to control group. Besides, finerenone could not reduce the incidence of death from cardiovascular, myocardial infarction and hospitalization for any cause among patients with kidney disease and/or diabetes (p > 0.05). In terms of safety, finerenone shared the same risk of total advent events with placebo among patients with kidney disease and/or diabetes (p > 0.05). However, finerenone had higher risk of study-drug-related advent events than placebo among patients with kidney disease and/or diabetes (95% CI 1.27-1.48; P < 0.001).

CONCLUSIONS: In patients with kidney disease and/or diabetes, treatment with finerenone resulted in lower risk of death from any cause and heart failure than placebo. However, the study-drug-related advent events also increased significantly at the same time.

PMID:36571667 | DOI:10.1007/s11255-022-03432-w

Hernia. 2022 Dec 26. doi: 10.1007/s10029-022-02707-6. Online ahead of print.

ABSTRACT

PURPOSE: To estimate the annual volume and cost of ventral hernia repair (VHR) performed in the United States.

METHODS: A retrospective cohort study was performed using the National Inpatient Sample (NIS) and the Nationwide Ambulatory Surgery Sample (NASS) for 2016-2019. Patients over the age of 18 who underwent open (OVHR) or minimally invasive ventral hernia repair (MISVHR) were identified. NIS procedural costs were estimated using cost-to-charge ratios; NASS costs were estimated using the NIS cost-to-charge ratios stratified by payer status. Costs were adjusted for inflation to 2021 dollars using US Bureau of Labor Statistics Consumer Price Index.

RESULTS: On average 610,998 VHRs were performed per year. Most were outpatient (67.3% per year), and open (70.7%). MIS procedures increased from 25.8% to 32.8% of all VHRs. Inpatient OVHR had significantly higher associated cost than MISVHR [$35,511 (34,100-36,921) vs. $21,165 (19,664-22,665 in 2019]. Outpatient MISVHR was more expensive than OVHR [$11,558 (11,174-11,942 MIS vs. $6807 (6620-6994) OVHR in 2019]. The estimated cost of an inpatient MISVHR remained similar between 2016 and 2019, from $20,076 (13,374-20,777) to $21,165 (19,664-22,665) and increased slightly from $9975 (9639-10,312) to $11,558 (11,174-11,942) in the outpatient setting. The estimated cost of an inpatient OVHR increased from $31,383 (30,338-32,428) to $35,511 (34,100-36,921), while outpatient costs increased from $6018 (5860-6175) to $6807 (6620-6994). VHR costs decreased slightly over the study period to a mean cost of $9.7 billion dollars in 2019.

CONCLUSION: Compared to 2006 national data, VHRs in the United States have almost doubled to 611,000 per year with an estimated annual cost of $9.7 billion. A 1% decrease in VHR achieved through recurrence reduction or hernia prophylaxis could save the US healthcare system at least $139.9 million annually.

PMID:36571666 | DOI:10.1007/s10029-022-02707-6

Lasers Med Sci. 2022 Dec 26;38(1):24. doi: 10.1007/s10103-022-03675-0.

ABSTRACT

A proof-of-concept of colloidal surface-enhanced Raman scattering (SERS) substrate for rapid selective detection of overexpressed CA 15-3 biomarker in breast cancer serum (BCS) is suggested using PEGylated gold nanourchins (GNUs) conjugated with anti-CA 15-3 monoclonal antibody (mAb). UV-vis spectroscopy provided conformational information about mAb where the initial aromatic amino acid peak was red-shifted from 271 to 291 nm. The fluorescence peak of tyrosine in mAb was reduced by ≈ 77%, and red-shifted by ≈ 3 nm after incubation in BCS. Fourier transform near-infrared spectroscopy and SERS were used to study the composition and the molecular structure of the mAb and BCS. Some of the most dominant Raman shifts after GNU-PEG-mAb interaction with BCS are 498, 736, 818, 1397, 1484, 2028, 2271, and 3227 cm^-1 mainly corresponding to C-N-C in amines, vibrational modes of amino acids, C-H out-of-plane bend, C-O stretching carboxylic acid, the vibrational mode in phospholipids, NH₃⁺ amine salt, C≡N stretching in nitriles, and O-H stretching. The intensity of SERS signals varied per trial due to the statistical behavior of GNU in BCS, agglomeration, laser power, and the heating effect. Despite very small amount of plasmonic heating, the result of the ANOVA test demonstrated that under our experimental conditions, the heating effect on signal variation is negligible and that the differences in the laser power are insignificant for all SERS observations (p > 0.6); thus, other parameters are responsible. The absorbance of mAb-conjugated GNU was decreased after five minutes of irradiation at 8 mW in the BCS.

PMID:36571665 | DOI:10.1007/s10103-022-03675-0

Neurol Sci. 2022 Dec 26. doi: 10.1007/s10072-022-06574-y. Online ahead of print.

ABSTRACT

BACKGROUND AND PURPOSE: Limited studies had jointly excavated the structural and functional changes in cognitive deficit in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis patients. We aimed to explore these changes in anti-NMDAR patients and their effect on cognitive function.

METHODS: Twenty-three patients and 25 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging, diffusion tensor imaging scanning, and neuroethology tests. The significantly differentiated brain regions via the fractional amplitude of low-frequency fluctuation (fALFF) were defined as regions of interest (ROIs). Granger causal, functional connectivity, and tract-based spatial statistical analyses were applied to explore the functional changes in ROIs and assess the structural changes.

RESULTS: HCs outperformed patients in Montreal Cognitive Assessment. The fALFF values of right gyrus rectus (RGR) in patients were significantly reduced. The fractional anisotropy (FA) values of WM in the genu of corpus callosum and right superior corona radiata were significantly decreased and positively associated with neuroethology testing scores. The Granger causal connectivity (GCC) from the left inferior parietal lobule to RGR was significantly decreased and positively associated with inherent vigilance. Indicated by the multiple linear regression result, decreased FA value of the right superior corona radiata might be a reliable marker that reflects the cognitive impairment.

CONCLUSIONS: Significant changes in spontaneous neural activities, GCC, and WM structures in anti-NMDAR encephalitis were reported. These findings promote the understanding of underlying relationships between cerebral function, structural network alterations, and cognitive dysfunction.

PMID:36571641 | DOI:10.1007/s10072-022-06574-y

Arch Microbiol. 2022 Dec 26;205(1):40. doi: 10.1007/s00203-022-03378-8.

ABSTRACT

PAHs (polycyclic aromatic hydrocarbons) increases the potential harm to ecosystem and human health. The fungi is considered as a powerful choice for degradation of PAHs. The researches on the effect of PAHs on fungal population in sediment/soil mostly stayed in the laboratory simulation that is based on extreme pollution. This study investigated the fungal population of the urban wetland by high-throughput sequencing in-situ micro-pollution state. Our statistical analysis revealed significant difference in the whole fungal population at the phylum among three land use types in typical urban wetland. Among them, Ascomycota was the dominant fungi at the phyla in three land use types. Fungal genus of degrading PAHs were significantly correlated with Dibenz[a, h]anthracene (P = 0.018) in ditch wetland, Total Organic Carbon (P = 0.02) and Fluoranthene (P = 0.04) in riverine wetland, and Electrical Conductivity (P = 0.018) in agricultural land. PICRUSt (Phylogenetic Investigation of Communities by Reconstruction of Unobserved States) suggested that 20 enzymes were present related to PAHs metabolism in three land use types. Specifically, monoxygenase, dehydrogenase, and laccase were most abundant among inferred enzymes, indicating that the urban wetland had potential for the degradation of PAHs. This study contributed to in-depth understanding of the structure and function of fungal population and provided a theoretical basis for PAHs microbial remediation in the in-situ environment.

PMID:36571638 | DOI:10.1007/s00203-022-03378-8

J Autism Dev Disord. 2022 Dec 26. doi: 10.1007/s10803-022-05871-x. Online ahead of print.

ABSTRACT

ASD is a neurodevelopmental disorder impacting 1 in 44 children and early identification of children with ASD is critical for the intervention. Several screening measures have been developed for early identification, including the Autism Spectrum Rating Scales, 6-18 years Parent Report (ASRS). The ASRS has been understudied, and the current study assessed the validity of the ASRS in a clinical sample of 490 children at a tertiary ASD-specialty clinic. Results indicated that the ASRS demonstrated favorable sensitivity, but poor specificity. True positive screening results were more likely to occur for children with a multiracial background, while they were less likely to occur for children with a high social capital. Overall, though the ASRS has clinical utility as a screening measure, it did not perform effectively to differentiate ASD from Non-ASD clinical disorders.

PMID:36571625 | DOI:10.1007/s10803-022-05871-x

Arch Dermatol Res. 2022 Dec 26. doi: 10.1007/s00403-022-02512-2. Online ahead of print.

ABSTRACT

Androgenetic alopecia (AGA) is the most common cause of hair loss in both genders with a higher psychological impact on females. Currently, topical minoxidil is the only FDA-approved treatment for female AGA and it needs life-long application and causes side effects. Cetirizine is an antihistamine that may be effective in hair loss treatment. This study aimed to compare the efficacy and safety of topical cetirizine with minoxidil (group 1) versus topical minoxidil with placebo (group 2) in female patients with AGA. This was a double-blind, randomized, controlled, parallel study conducted at Dermatology Clinic, Cairo University Teaching Hospital (Kasr- Al- Ainy), Egypt. Sixty-six patients with female AGA, aged 20-50 years, Sinclair (II-IV), were randomly assigned to one of the 2 groups for 24 weeks. The trichoscopic parameters, patients’ self-assessment, side effects and global photographic assessment were evaluated. There was a statistically significant change from baseline in frontal and vertex terminal and vellus hair density (P < 0.0005) with a significant increase in vertex hair shaft thickness and average number of hairs per follicular unit in group 1 (P < 0.05). Patients reported significantly better scores in patient self-assessment in group 1 (P < 0.05). Side effects were not significantly different between groups (P > 0.05). Topical cetirizine increases hair shaft thickness and results in a higher clinical improvement from patients’ perspective with a good safety profile (NCT04481412, study start date: July 2020).

PMID:36571611 | DOI:10.1007/s00403-022-02512-2