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Validation of case definition algorithms for the ascertainment of congenital anomalies

Birth Defects Res. 2022 Nov 11. doi: 10.1002/bdr2.2112. Online ahead of print.

ABSTRACT

BACKGROUND: Congenital anomalies (CA) are one of the leading causes of infant mortality and long-term disability. Many jurisdictions rely on health administrative data to monitor these conditions. Case definition algorithms can be used to monitor CA; however, validation of these algorithms is needed to understand the strengths and limitations of the data. This study aimed to validate case definition algorithms used in a CA surveillance system in British Columbia (BC), Canada.

METHODS: A cohort of births between March 2000 and April 2002 in BC was linked to the Health Status Registry (HSR) and the BC Congenital Anomalies Surveillance System (BCCASS) to identify cases and non-cases of specific anomalies within each surveillance system. Measures of algorithm performance were calculated for each CA using the HSR as the reference standard. Agreement between both databases was calculated using kappa coefficient. The modified Standards for Reporting Diagnostic Accuracy guidelines were used to enhance the quality of the study.

RESULTS: Measures of algorithm performance varied by condition. Positive predictive value (PPV) ranged between approximately 73%-100%. Sensitivity was lower than PPV for most conditions. Internal congenital anomalies or conditions not easily identifiable at birth had the lowest sensitivity. Specificity and negative predictive value exceeded 99% for all algorithms.

CONCLUSION: Case definition algorithms may be used to monitor CA at the population level. Accuracy of algorithms is higher for conditions that are easily identified at birth. Jurisdictions with similar administrative data may benefit from using validated case definitions for CA surveillance as this facilitates cross-jurisdictional comparison.

PMID:36369700 | DOI:10.1002/bdr2.2112

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Later onset of Childhood Disintegrative Disorder (CDD): a case report

Neurocase. 2022 Aug;28(4):369-374. doi: 10.1080/13554794.2022.2130804. Epub 2022 Oct 23.

ABSTRACT

Childhood Disintegrative Disorder (CDD) is a rare condition characterized by regression of developmental and behavioral functioning after a period of apparently normal development, with an age of onset around 4 years. CDD is not included within the latest edition of the Diagnostic and Statistical Manual of Mental Disorders. We present a case report of an 11-year-old male who achieved normal development for up to 7 years followed by a deterioration of previously acquired linguistic, intellectual, and social skills. Following treatment with lithium carbonate combined with risperidone, the patient experienced a reduction in irritability and aggression. CDD is a rare condition; therefore, the data presented may be useful to investigate its characteristics of the onset, to improve the understanding of the aspects of differentiation from the Autism Spectrum Disorder and finally to propose the possibility of treatment.

PMID:36369699 | DOI:10.1080/13554794.2022.2130804

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Biopsy strategies for intermediate and high suspicion thyroid nodules with macrocalcifications

Curr Med Res Opin. 2022 Nov 11:1-20. doi: 10.1080/03007995.2022.2146404. Online ahead of print.

ABSTRACT

OBJECTIVE: 1) To find strategies to improve diagnostic performance of ultrasound-guided biopsy of intermediate and high suspicion thyroid nodules with macrocalcifications, 2) To find malignancy rates of nodules with macrocalcification.

MATERIALS AND METHODS: From 2018 to 2022, fine-needle aspiration biopsy (FNAB) and core needle biopsy (CNB) were retrospectively evaluated. Macrocalcifications were categorized into three types: intra-nodular, rim, and entirely calcified. Diagnostic performance was compared between biopsy modes (FNAB vs. CNB) and FNAB techniques (to-and-fro vs. whirling). Multivariate logistic regression was performed to determine features associated with performance of FNAB. Malignancy rates were calculated according to macrocalcification types.

RESULTS: Total of 114 procedures (87 FNAB and 27 CNB) in 89 nodules per 86 patients (mean age, 64 years; 76 women) were performed. Overall, CNB performed better than FNAB (unsatisfactory rate: 3.7% vs. 33.3%, p = 0.005). For macrocalcification thicker than 2 mm, whirling FNAB technique demonstrated comparable unsatisfactory rate with statistical trends toward significance (to-and-fro: 69.2% vs. whirling: 27.8%, p = 0.055). Entirely calcified nodule was associated with poor performance of FNAB (adjusted odds ratio 4.46 [95%CI: 1.19 – 16.67], p = 0.027). Overall malignancy was 22.5%, and higher in intra-nodular macrocalcification than rim and entirely calcified type (68.4% vs. 21.1% vs. 10.5%, p = 0.025).

CONCLUSION: For entirely calcified type, CNB should be considered first to improve diagnosis. For other types, FNAB can be performed, and whirling technique may be an alternative technique in thicker macrocalcification. Malignancy in intermediate and high suspicion nodules with macrocalcification have non-negligible rates.

PMID:36369696 | DOI:10.1080/03007995.2022.2146404

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Extended physiotherapy after Intensive Care Unit (ICU) stay: A prospective pilot study with a before and after design

Physiother Theory Pract. 2022 Nov 11:1-9. doi: 10.1080/09593985.2022.2143251. Online ahead of print.

ABSTRACT

OBJECTIVE: To examine whether extended compared to standard level of physiotherapy is feasible and has beneficial effects on physical function in ICU survivors.

METHODS: This prospective pilot study with a before and after design included patients discharged from ICU to a surgical ward. The comparison group were recruited between January and April 2019 and received standard level of physiotherapy. The intervention group were recruited between May and December 2019 and received extended physiotherapy, corresponding to 50% additional physiotherapist, working 4 hours per weekday. The intervention participants received an individual rehabilitation plan developed in collaboration with a ward-based physiotherapist, and an extended number of sessions provided by the extra resource included practicing individualized exercises, for example walking and stair climbing. Physical function was measured with the Chelsea Critical Care Physical Assessment tool (CPAx) at ICU discharge, during hospital stay and discharge. Group differences were analyzed using the Mann-Whitney U-test and Chi2 test.

RESULTS: Out of 46 eligible patients, 39 (85%) fulfilled the study (comparison n = 12, intervention n = 27) and were included in the final analyses. No adverse events occurred, and the attendance rate was high (98.5%). There were no statistically significant differences between the groups regarding physical function, hospital stay, and readmissions, but there were tendencies to better outcomes in all these parameters in favor of the intervention group. Additionally, patients in the intervention group had statistically significantly higher scores in the CPAx items “transferring from bed to chair” (median 5 vs 4, p = .039) and “stepping” (median 5 vs 4, p = .005) at hospital discharge.

CONCLUSION: This pilot study indicates that extended physiotherapy after ICU discharge is feasible and does not entail patient safety risks. However, determining the potential beneficial effects for the patients remains to be evaluated in a larger trial.

PMID:36369693 | DOI:10.1080/09593985.2022.2143251

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Drilling- and withdrawing-related thermal effects of implant site preparation for ceramic and stainless steel twist drills in standardized bovine bone

Clin Implant Dent Relat Res. 2022 Nov 11. doi: 10.1111/cid.13151. Online ahead of print.

ABSTRACT

INTRODUCTION: Excessive surgical trauma is believed to be among the most important causes for early implant losses. As thermal injury to the bone is not only dependent on the amount of generated heat but also on the tissue exposure time, and the greatest temperature increase was found within the withdrawing period, the entire osteotomy procedure with the parameters contributing to thermal damage is of particular clinical relevance. The aim of this study was to investigate the thermal performance of metal-based and ceramic implant drills regarding the temperature exposure time during the whole osteotomy process.

MATERIALS AND METHODS: This investigation consisted of 240 individual preparations in total, comprising two different drilling depths (10 and 16 mm), two irrigation methods (external and without irrigation), two implant drill materials (stainless steel and zirconia), and three consecutive drill diameters per material (2.0/2.2, 2.8, and 3.5 mm) with 10 identical repetitions. Real-time multichannel temperature measurement was conducted during automated drilling procedures in standardized bovine bone specimens.

RESULTS: The maximum temperature changes were highly associated with the time period of passive drill withdrawing (p ≤ 0.05), irrespective of drill material, drilling depth, or drill diameter. Statistically significant differences in temperature generation between stainless steel and ceramic drills were observed in irrigated testing sites at both drilling depths with smaller drill diameters (2.0/2.2 and 2.8 mm, p ≤ 0.05).

CONCLUSION: Results of this in vitro study could demonstrate a strong association between the highest temperature increase and the passive withdrawing time period in both investigated drill materials. Considering these findings and the resulting thermal bone damage due to the whole surgical procedure, high overall temperatures in combination with a prolonged heat exposure time may impact the future osseointegration process.

PMID:36369670 | DOI:10.1111/cid.13151

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Randomised clinical trial: efficacy and safety of the live biotherapeutic product MRx1234 in patients with irritable bowel syndrome

Aliment Pharmacol Ther. 2022 Nov 11. doi: 10.1111/apt.17310. Online ahead of print.

ABSTRACT

BACKGROUND: MRx1234 is a live biotherapeutic product that contains a strain of Blautia hydrogenotrophica. It is in development for the treatment of irritable bowel syndrome (IBS).

AIMS: To assess the efficacy and safety of MRx1234 in patients with IBS with predominant constipation (IBS-C) or diarrhoea (IBS-D) METHODS: We conducted a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Patients aged 18-70 years in two parallel cohorts (IBS-C; IBS-D) were randomised (1:1) to MRx1234 or placebo for 8 weeks. The primary efficacy endpoint was overall responder rate-a composite of improved bowel habit (IBS-C: stool frequency; IBS-D: stool consistency) and abdominal pain intensity-for ≥50% of the treatment period in each cohort. Statistical testing was at a one-sided 0.10 significance level.

RESULTS: Of 366 randomised patients (164 IBS-C; 202 IBS-D), 365 received any study medication (177 MRx1234, 188 placebo). Numerically, although not statistically significantly different, more patients who received MRx1234 than placebo were overall responders in the IBS-C (25.0% vs. 17.1%) and IBS-D (23.4% vs. 17.8%) cohorts. Similar results were observed in the additional combined cohort analysis (24.1% vs. 17.5%; p = 0.063). For the components of the primary endpoint, significantly more patients on MRx1234 than placebo reported improvement in bowel habit in the IBS-C, IBS-D and combined cohorts, while improvements in abdominal pain were observed in each cohort. The safety profile of MRx1234 was similar to placebo.

CONCLUSIONS: MRx1234 has the potential to become a novel, safe treatment option for patients with IBS-C or IBS-D, and for those who have mixed symptoms or transition between subtypes.

CLINICALTRIALS: gov #NCT03721107.

PMID:36369645 | DOI:10.1111/apt.17310

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The Basic VRS-Effect Study: Clinical Trial Outcomes and Cost-Effectiveness of Low Vision Rehabilitation in Portugal

Ophthalmol Ther. 2022 Nov 11. doi: 10.1007/s40123-022-00600-0. Online ahead of print.

ABSTRACT

INTRODUCTION: The aim of this study was twofold: (1) to investigate the clinical impact of vision rehabilitation in patients with vision impairment and (2) to investigate the cost-effectiveness of a basic vision rehabilitation service in Portugal.

METHODS: The trial recruited patients diagnosed with age-related macular degeneration or diabetic retinopathy (DR) and visual acuity in the range 0.4-1.0logMAR in the better-seeing eye. Participants were randomised to one of the study arms consisting of immediate intervention and delayed intervention. The intervention included: new refractive correction, optical reading aids, in-office training and advice about modifications at home. Visual ability, health-related quality of life and costs were measured. Economic analysis was performed to evaluate whether the intervention was cost-effective. The trial compared the outcomes 12 weeks after the start in both arms.

RESULTS: Of the 46 participants, 34 (74%) were diagnosed with DR, 25 (54%) were female, and mean age was 70.08 years (SD = 8.74). In the immediate intervention arm visual ability increased a mean of 0.523 logits (SE = 0.11) (p < 0.001). Changes in the delayed intervention arm were not statistically significant (p = 0.95). Acuity in the better-seeing eye, near acuity and critical print size also improved during the study. The mean cost of the intervention was €118.79 (SD = 24.37). The incremental cost-effectiveness ratio using the EQ-5D-5L was 30,421€/QALY and 1186€/QALY when using near acuity.

CONCLUSION: The current study gives evidence of positive clinical impact of a basic vision rehabilitation intervention and shows that a basic vision rehabilitation service is cost-effective. These findings are important to clinical and rehabilitation practices and for planning vision rehabilitation services.

TRIAL REGISTRATION: Retrospectively registered, 21/01/2019. ISRCTN10894889, https://www.isrctn.com/ISRCTN10894889.

PMID:36369618 | DOI:10.1007/s40123-022-00600-0

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The burden of rheumatoid arthritis in the Middle East and North Africa region, 1990-2019

Sci Rep. 2022 Nov 11;12(1):19297. doi: 10.1038/s41598-022-22310-0.

ABSTRACT

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease. The present study reported the burden of RA in the Middle East and North Africa (MENA) region from 1990 to 2019 by age, sex, and socio-demographic index (SDI). Publicly available data from the Global Burden of Disease (GBD) 2019 study was used to report the modelled point prevalence, annual incidence, and disability-adjusted life-years (DALYs) of RA, as counts and age-standardised rates with their corresponding 95% uncertainty intervals (UIs). In 2019, RA had an age-standardised point prevalence of 120.6 per 100,000 population (107.0-135.7) and an annual incidence rate of 5.9 (5.2-6.6) in MENA, which have increased 28.3% and 25.2%, respectively, since 1990. In 2019, the number of DALYs due to RA in the region was 103.6 thousand (74.2-136.7), with an age-standardised rate of 19.0 (13.9-24.9) DALYs per 100,000 population, which has increased by 18.6% since 1990 (6.7-28.2). The highest point prevalence was found in females aged 50-54, and in males aged 45-49. The highest number of DALYs was observed in the 50-54 age group. The MENA DALY rate was lower than the global rate (19.0 vs. 39.6 per 100,000), but the rate was higher in all age groups in 2019, when compared with 1990. In addition, from 1990 to 2019 an increased burden from RA was associated with an increase in SDI. In line with global trends, the burden of RA in the MENA region showed a steady increase from 1990 to 2019. This highlights the increasing need for updating the available health data to design more accurate guidelines to enable the early detection and treatment of RA in the MENA countries.

PMID:36369238 | DOI:10.1038/s41598-022-22310-0

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Prospective Comparison of Oral Contrast-Enhanced Transabdominal Ultrasound Imaging With Contrast-Enhanced Computed Tomography in Pre-operative Tumor Staging of Gastric Cancer

Ultrasound Med Biol. 2022 Nov 8:S0301-5629(22)00605-6. doi: 10.1016/j.ultrasmedbio.2022.10.010. Online ahead of print.

ABSTRACT

The aim of this prospective study was to compare the diagnostic accuracy of oral contrast-enhanced transabdominal ultrasound imaging (OCTU) with that of contrast-enhanced computed tomography (CT) for the pre-operative tumor staging of gastric cancer, with post-operative pathology as the standard. We included 108 cases of gastric cancer with simultaneous OCTU and enhanced CT pre-operative tumor staging diagnoses. Results were compared with post-operative pathology based on the eighth edition of the American Joint Committee on Cancer tumor-node-metastasis staging guidelines for gastric cancer. The accuracy of each tumor stage was obtained by comparing OCTU and enhanced CT diagnoses with post-operative pathology. The McNemar test was used to compare the overall accuracy of the two methods. There was no statistical difference in accuracy between OCTU (72.2%) and enhanced CT (75.9%, p = 0.644) for overall pre-operative tumor staging diagnosis. For stages T1 to T4, the accuracy rates of OCTU were 84.2%, 81.8%, 69.4% and 65.5%, respectively, and those for enhanced CT were 52.6%, 72.7%, 87.8% and 72.4%, respectively. OCTU is comparable to enhanced CT in the preoperative overall T-stage diagnosis of gastric cancer.

PMID:36369213 | DOI:10.1016/j.ultrasmedbio.2022.10.010

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Bile detection of squamous cell carcinoma antigen (SCCA) in extrahepatic cholangiocarcinoma

Dig Liver Dis. 2022 Nov 8:S1590-8658(22)00740-X. doi: 10.1016/j.dld.2022.10.010. Online ahead of print.

ABSTRACT

BACKGROUND: Cholangiocarcinoma (CCA) is a rare biliary tract tumor with poor prognosis that often is challenging to diagnose and the majority of patients present with advanced stage. Squamous cell carcinoma antigen 1 (SCCA1) overexpression has been found in different tumors associated with poor prognosis and chemoresistance.

AIMS: To assess the presence and possible prognostic role of SCCA1/2 isoforms in bile and serum of patients with CCA.

METHODS: Forty seven surgical patients (36 with CCA and 11 with benign diseases) were prospectively included in the study. Serum and bile specimens were collected at the time of surgery and free and IgM-complexed SCCA was quantified by ELISA (Xeptagen, srl).

RESULTS: Free or IgM linked SCCA was rarely found in serum, while SCCA was detectable in bile samples of patients with CCA, especially in those with extrahepatic form (43% vs 17%, p = 0.008), but not in controls. Despite similar tumor stage, these positive patients presented a trend toward a higher percentage of portal invasion (27% vs 15%) and of tumor recurrence than negative cases (62% vs 40%), although the difference was not statistically significant.

CONCLUSION: These preliminary results indicate that bile testing for SCCA is a specific marker of extrahepatic CCA, with potential prognostic value.

PMID:36369195 | DOI:10.1016/j.dld.2022.10.010