Articles: disease.
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Patients with rare diseases such as Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL), a hematologic malignancy affecting approximately 1500 new patients per year, experience barriers to care involving both clinical and administrative factors. Optimal patient outcomes depend on timely identification, diagnosis of disease, and treatment initiation. For patients living with Ph+ ALL, the process can be delayed by limited treatment options approved by the US Food and Drug Administration and administrative hurdles that often delay treatment initiation. ⋯ Panelists at the roundtable discussed approaches including the use of guideline-concordant electronic PAs and other digital solutions, expedited approval pathways for use in specific conditions, use of real-world evidence in decision-making, issuance of PA "Gold Cards" to select providers, and a shift to value-based care agreements. Roundtable attendees agreed that, regardless of the strategy for PA-process improvement, there is a need for improved communication between providers and payers to ensure that the decision-making system meets the essential need for timely patient access to optimal care. This article reviews utilization management and guideline-concordant care through the lens of rare diseases and then presents solutions to utilization.
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Mayo Clinic proceedings · Apr 2023
Cardiovascular Risk and Diseases in Patients With and Without Leptin-Melanocortin Pathway Variants.
To study differences in cardiovascular risk factors and diseases between patients with and without genetic variants in the leptin-melanocortin pathway. ⋯ Despite having similar body weight and BMI, carriers of heterozygous variants in the leptin-melanocortin pathway had higher rates of hypertension than noncarriers. These findings point to an association between hypertension and leptin-melanocortin pathway variants.
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Observational Study
The Prevalence of Amblyopia and Eye Diseases among Pediatric Jewish Ethiopian Immigrants in Israel: An Observational Cross-sectional Study.
In developed countries, amblyopia has an estimated prevalence rate of 1-4%, depending on the socioeconomic gradient. Previous studies performed on pediatric populations in Ethiopia demonstrated amblyopia rates up to 16.7. ⋯ Despite originating from a country with limited resources and fewer medical facilities, the amblyopia rate in Jewish Ethiopian immigrants was not higher, and even mildly lower, compared to Israeli-born children.
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Internal medicine journal · Apr 2023
Effect of COVID-19 lockdown on body weight in chronic obstructive pulmonary disease.
A series of studies has reported weight gain in association with COVID-19 lockdowns; typically, this research has had short-term follow-up in populations that tended to gain weight. In this study, the effect of prolonged lockdowns on weight was assessed in a population of patients with chronic obstructive pulmonary disease. Before lockdown subjects gained an average of 0.022 kg per month; after lockdown this trend reversed with subjects losing weight at 0.032 kg per month, a trend that was highly significant (P < 0.001).
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Dtsch. Med. Wochenschr. · Apr 2023
Observational Study[Treatment and LDL cholesterol adjustment in patients with high and very high cardiovascular risk in Germany compared with Europe - data from the SANTORINI registry].
Current 2019 ESC/EAS guidelines for the management of dyslipidemia recommend LDL cholesterol (LDL-C) goals according to the patients' cardiovascular (CV) risk. SANTORINI is the first large European observational study since the 2019 guidelines to assess whether lipid management in patients at high and very high CV risk has improved. ⋯ The 2019 ESC/EAS guideline recommendations are only implemented in a minority of patients. The study identifies opportunities for improvements in the prevention of CV diseases in Germany.