Opportunities For An Early Recognition Of Spinal Muscular Atrophy In Primary Care

The findings suggest that primary care databases may be used to enhance the early identification of SMA.

source: Family Practice

Summary

A Nationwide, Population-Based, Study In Italy

[Posted 22/May/2023]

AUDIENCE: Family Medicine

KEY FINDINGS: The findings suggest that primary care databases may be used to enhance the early identification of SMA. Additional efforts are needed to exploit the electronic health records of general practitioners to allow early recognition of SMA.

BACKGROUND: Spinal muscular atrophy (SMA) is a rare genetic disease with a broad spectrum of severity. Although an early diagnosis of SMA is crucial to allow proper management of patients, the diagnostic delay is still an issue. Therefore, this study aimed to investigate the clinical correlates of SMA among primary care patients.

DETAILS: The Health Search Database (HSD) was adopted. To estimate the prevalence and incidence rate of SMA, a cohort study was conducted on the population (aged >=6 years) being registered in HSD from 1 January 2000 up to 31 December 2019. To investigate the clinical correlates of SMA, a nested case-control study was performed. SMA cases have been classified according to a clinically based iterative process as "certain", "probable" or "possible". To test the association between clinical correlates and SMA cases a multivariate conditional logistic regression model was estimated. The SMA prevalence combining "certain", "probable" and "possible" cases was 5.1 per 100,000 in 2019 (i.e. 1.12 per 100,000 when limited to "certain" cases), while the yearly incidence rate ranged from 0.12 to 0.56 cases per 100,000. Comparing "certain" cases with matched controls, the presence of neurology visits (OR = 6.5; 95% CI: 1.6-25.6) and prescription of electromyography (OR = 4.6; 95% CI: 1.1-18.7) were associated with higher odds of SMA diagnosis.

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Source: Maggi, L., Vita, G., Marconi, E., et al. (2023). Opportunities For An Early Recognition Of Spinal Muscular Atrophy In Primary Care: A Nationwide, Population-Based, Study In Italy. Family Practice. 2023; 40(2): 308-313. Published: April, 2023. DOI: 10.1093/fampra/cmac091.



Clinical Profiles and Mortality Rates Are Similar for Metabolic Dysfunction-Associated Steatotic Liver Disease and Non-Alcoholic Fatty Liver Disease

NAFLD and MASLD are similar except individuals with MASLD seem to be older with slightly higher mortality risk, likely owing to cardiometabolic risk factors. Clinical profiles and non-invasive test thresholds were also identical. These data provide evidence that NAFLD and MASLD terminologies can be used interchangeably.

source: J Hepatology

Summary

[Posted 22/May/2024]

AUDIENCE: Gastroenterology, Internal Medicine

KEY FINDINGS: NAFLD and MASLD are similar except individuals with MASLD seem to be older with slightly higher mortality risk, likely owing to cardiometabolic risk factors. Clinical profiles and non-invasive test thresholds were also identical. These data provide evidence that NAFLD and MASLD terminologies can be used interchangeably. For the small proportion of patients with NAFLD who do not meet MASLD criteria, further consideration is needed.

BACKGROUND: Recently, the term metabolic dysfunction-associated steatotic liver disease (MASLD) has replaced non-alcoholic fatty liver disease (NAFLD). Concern remains regarding whether the evidence generated under the NAFLD definition can be used for MASLD. We compared the clinical profile and outcomes of NAFLD to MASLD using tertiary care- and population-based data.

DETAILS: Comparison data were obtained from our NAFLD database and the National Health and Nutrition Examination Survey (NHANES III). Clinical profiles and non-invasive tests (enhanced liver fibrosis [ELF] score, fibrosis-4 index [FIB-4] and vibration-controlled transient elastography) were compared. Mortality data were obtained from NHANES-National Death Index. All-cause mortality was assessed by Cox proportional hazards regression models and cause-specific mortality by competing risk analysis. There were 6,429 patients in the NAFLD database (age: 54 ± 12 years, 42% male, BMI 35.4 ± 8.3, waist circumference 112 ± 17 cm, 52% type 2 diabetes). Average scores for ELF, FIB-4 and liver stiffness were 9.6 ± 1.2, 1.69 ± 1.24,14.0 ± 11.8 kPa, respectively; 99% met MASLD criteria; 95% met MASLD on BMI only. Predictive accuracy of ELF and FIB-4 were identical between MASLD and NAFLD. We included 12,519 eligible participants from NHANES (age 43.00 years, 47.38% male, 22.70% obese, 7.28% type 2 diabetes, 82.51% >=1 cardiometabolic criteria). Among the NHANES study population, there was excellent concordance between MASLD and NAFLD diagnoses: Cohen's kappa coefficient: 0.968 (95% CI 0.962–0.973) with 5.29% of NAFLD cases not meeting MASLD criteria. After a median follow-up of 22.83 years, there were no mortality differences between MASLD and NAFLD diagnoses (p values >=0.05).

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Source: XXXXX et al. (2024). Clinical Profiles and Mortality Rates Are Similar for Metabolic Dysfunction-Associated Steatotic Liver Disease and Non-Alcoholic Fatty Liver Disease. J Hepatology. 2024; 80(5): 694-701. Published: May, 2024. DOI: 10.1016/j.jhep.2024.01.014.



Drug Survival of Methotrexate and Predictor Factors for Discontinuation in Psoriasis

MTX is a valuable, cost-effective option for long-term treatment of psoriasis although drug survival is not comparable with that of biological treatments.

source: Int J Dermatol

Summary

[Posted 20/May/2024]

AUDIENCE: Dermatology, Family Medicine

KEY FINDINGS: MTX is a valuable, cost-effective option for long-term treatment of psoriasis although drug survival is not comparable with that of biological treatments. Studies are needed to better understand the best dosing regimen to use, with the aim of achieving the best clinical outcomes and the lowest rate of side effects with this drug.

BACKGROUND: Methotrexate (MTX) is a systemic therapy largely used for moderate-severe psoriasis. There is a lack of data on its use in daily practice and particularly on its long-term effectiveness and survival in psoriasis.

DETAILS: Authors performed a single-centered, retrospective, observational study to evaluate the drug survival of MTX in patients with psoriasis, treated in monotherapy with MTX between March 2015 and March 2022. Clinical and demographic characteristics were extracted from files of the patients. The drug survival was analyzed using Kaplan-Meier survival curves, considering separately overall discontinuation, discontinuation due to MTX ineffectiveness, and discontinuation due to adverse events. Multivariable Cox regression analyses were carried out including clinically meaningful variables. A total of 199 patients were included; 148 (74.4%) suspended MTX during the observation period. The reasons for discontinuation were adverse events (39.2%), ineffectiveness (38.5%), remission of psoriasis (12.2%), and other reasons (10.1%). Average duration of therapy was 10.1 months. Patients who remained on therapy after 1, 2, and 5 years of treatment were respectively 46.9, 35.6, and 29.3%. Positive predictive factors for therapy continuation were increasing age and the use of > 15 mg of MTX for a period > 3 months; the only negative predictive factor was the clinical variant of palmoplantar pustular.

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Source: Caldarola, G., De Luca, E., Mariani, M., et al. (2024). Drug Survival of Methotrexate and Predictor Factors for Discontinuation in Psoriasis. Int J Dermatol. 2024; 62(5): 649-656. Published: May, 2024. DOI: 10.1111/ijd.16652.



The Effectiveness Of Preoperative Delirium Prevention In Intermediate To High-Risk Older Surgical Patients

Despite the promising results for fascia iliaca compartment block and methylprednisolone, there is limited knowledge regarding evidence-based delirium prevention interventions.

source: J Clin Nurs

Summary

A Systematic Review

[Posted 20/May/2024]

AUDIENCE: Nursing

KEY FINDINGS: Despite the promising results for fascia iliaca compartment block and methylprednisolone, there is limited knowledge regarding evidence-based delirium prevention interventions. Most studies had small sample sizes indicating that the current evidence is exploratory. There is an urgent need for the funding and conduct of trials to test preventative interventions for older surgical patients at intermediate to high risk of developing delirium.

BACKGROUND: Few reviews have addressed delirium prevention among intermediate to high-risk older surgical patients. Purpose of this study is to map preoperative delirium prevention interventions for older surgical patients at intermediate to high risk of developing delirium, assess outcomes and identify gaps in knowledge.

DETAILS: A systematic search was conducted of the literature published from 1990 to October 2022 in Medline, CINAHL and Ageline and of the grey literature in Google Scholar. Randomised controlled trials were retrieved that assessed the effectiveness of preoperative delirium prevention interventions for older surgical patients at intermediate to high risk of delirium. Data were extracted using a data extraction tool, and results were tabulated. Studies were assessed for bias using the Cochrane Collaboration Risk of Bias tool. Twenty-one studies met the selection criteria including N = 5096 participants. Two studies tested cognitive training, two studies tested fascia iliaca compartment block and one study assessed femoral nerve block. Ten studies tested prophylactic medications including methylprednisolone. Five studies investigated geriatric assessment and management. One study assessed transcutaneous electrical acupoint stimulation. In the two studies testing fascia iliaca compartment block, there was a reduction in postoperative delirium for orthopaedic patients. Methylprednisolone reduced postoperative delirium in orthopaedic patients and in those undergoing gastrointestinal surgery. Results of all other interventions on the occurrence of postoperative delirium and additional outcomes including the severity and duration of delirium were inconclusive.

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Source: Lay, N., Foley, P., and Allen, J. (2024). The Effectiveness Of Preoperative Delirium Prevention In Intermediate To High-Risk Older Surgical Patients: A Systematic Review. J Clin Nurs. 2024; 33(5): 1666-1683. Published: May, 2024. DOI: 10.1111/jocn.17020.



Ultrasound Features Using MUSA Terms and Definitions in Uterine Sarcoma and Leiomyoma

A postmenopausal patient presenting with abnormal uterine bleeding and a new or growing mesenchymal mass with irregular tumor borders, moderate-to-abundant intralesional vascularity, cystic areas and an absence of calcifications on ultrasonography is at a higher risk of having a uterine sarcoma. Interobserver agreement for most MUSA terms and definitions is moderate.

source: Ultrasound Obstet Gynecol.

Summary

[Posted 10/May/2024]

AUDIENCE: Ob/Gyn

KEY FINDINGS: A postmenopausal patient presenting with abnormal uterine bleeding and a new or growing mesenchymal mass with irregular tumor borders, moderate-to-abundant intralesional vascularity, cystic areas and an absence of calcifications on ultrasonography is at a higher risk of having a uterine sarcoma. Interobserver agreement for most MUSA terms and definitions is moderate. Future studies should validate the abovementioned clinical and ultrasound findings on uterine mesenchymal tumors in a prospective multicenter fashion.

BACKGROUND: Timely and accurate preoperative diagnosis of uterine sarcoma will increase patient survival. The primary aim of this study was to describe the ultrasound features of uterine sarcoma compared with those of uterine leiomyoma based on the terms and definitions of the Morphological Uterus Sonographic Assessment (MUSA) group. A secondary aim was to assess the interobserver agreement for reporting on ultrasound features according to MUSA terminology.

DETAILS: This was a retrospective cohort study of patients with uterine sarcoma or uterine leiomyoma treated in a single tertiary center during the periods 1997-2019 and 2016-2019, respectively. Demographic characteristics, presenting symptoms and surgical outcomes were extracted from patients' files. Ultrasound images were re-evaluated independently by two sonologists using MUSA terms and definitions. Descriptive statistics were calculated and interobserver agreement was assessed using Cohen's K (with squared weights) or intraclass correlation coefficient, as appropriate. A total of 107 patients were included, of whom 16 had a uterine sarcoma and 91 had a uterine leiomyoma. Abnormal uterine bleeding was the most frequent presenting symptom (69/107 (64%)). Compared with leiomyoma cases, patients with uterine sarcoma were older (median age, 65 (interquartile range (IQR), 60-70) years vs 48 (IQR, 43-52) years) and more likely to be postmenopausal (13/16 (81%) vs 15/91 (16%)). In the uterine sarcoma cohort, leiomyosarcoma was the most frequent histological type (6/16 (38%)), followed by adenosarcoma (4/16 (25%)). On ultrasound evaluation, according to Observers 1 and 2, the tumor border was irregular in most sarcomas (11/16 (69%) and 13/16 (81%) cases, respectively), but regular in most leiomyomas (65/91 (71%) and 82/91 (90%) cases, respectively). Lesion echogenicity was classified as non-uniform in 68/91 (75%) and 51/91 (56%) leiomyomas by Observers 1 and 2, respectively, and 15/16 (94%) uterine sarcomas by both observers. More than 60% of the uterine sarcomas showed acoustic shadows (11/16 (69%) and 10/16 (63%) cases by Observers 1 and 2, respectively), whereas calcifications were reported in a small minority (0/16 (0%) and 2/16 (13%) cases by Observers 1 and 2, respectively). In uterine sarcomas, intralesional vascularity was reported as moderate to abundant in 13/16 (81%) cases by Observer 1 and 15/16 (94%) cases by Observer 2, while circumferential vascularity was scored as moderate to abundant in 6/16 (38%) by both observers. Interobserver agreement for the presence of cystic areas, calcifications, acoustic shadow, central necrosis, color score (overall, intralesional and circumferential) and maximum diameter of the lesion was moderate. The agreement for shape of lesion, tumor border and echogenicity was fair.

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Source: De Bruyn, C., Ceusters J., Brande, K. V., et al. (2024). Ultrasound Features Using MUSA Terms and Definitions in Uterine Sarcoma and Leiomyoma: Cohort Study. Ultrasound Obstet Gynecol.. 2024; 63(5): 683-390. Published: May, 2024. DOI: 10.1002/uog.27535.



Metastasis Of Skin Squamous Cell Carcinoma In Kidney Transplant Recipients

Both groups, KTRs and ICs, exhibited similar primary tumor grades and metastasis evolution, but KTRs had a higher prevalence of lymphovascular invasion. Metastasis of cSCC was more common in males with low skin phototype, in KTRs, particularly on the head and neck. The study suggests a possible link between lymphovascular invasion and metastasis development in KTRs.

source: Int J Dermatol

Summary

[Posted 8/May/2024]

AUDIENCE: Dermatology, Oncology, Family Medicine

KEY FINDINGS: Both groups, KTRs and ICs, exhibited similar primary tumor grades and metastasis evolution, but KTRs had a higher prevalence of lymphovascular invasion. Metastasis of cSCC was more common in males with low skin phototype, in KTRs, particularly on the head and neck. The study suggests a possible link between lymphovascular invasion and metastasis development in KTRs.

BACKGROUND: Cutaneous squamous cell carcinoma (cSCC) is the most common skin malignancy in kidney transplant recipients (KTRs) as a result of immunosuppression.

DETAILS: A worldwide increase in kidney transplantation justifies the determination of prognostic biomarkers by collecting detailed patient data on metastasis development. This study aims to characterize the clinical, epidemiological, and histopathological profiles of KTRs who developed metastasis of cSCC. Authors conducted a retrospective single-center study on 18 KTRs and 21 immunocompetent patients (ICs) with metastatic cSCC, using data from 2004 to 2021. ICs were older (median age 70.5 years) than KTRs (median age: 59.5 years). Both groups were predominantly male with Fitzpatrick skin phototype I/II. The primary tumor appeared around 83.5 ; months post-transplant, usually in sun-exposed areas (61.1%), though some non-exposed areas in ICs (23.8%) contradicted literature findings. KTRs took longer to develop metastasis (median: 11.0 months) compared to ICs (median: 5.5 months). The mean size of the primary tumor was smaller in KTRs (2.50 cm2) compared to ICs (4.55 cm2). The main lymph node chain affected by metastasis was parotid lymph nodes in KTRs (27.8%) and cervical/axillar lymph nodes in ICs (both 19.0%).

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Source: Alves, F. F. C., de Jesus, L. C. B., Cristelli, M. P., et al. (2024). Metastasis Of Skin Squamous Cell Carcinoma In Kidney Transplant Recipients. Int J Dermatol. 2024; 63(5): 560-564. Published: March, 2024. DOI: 10.1111/ijd.17029.



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