Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of disorders, which has led to certain investigators disputing its rationality. The mutual feature of LGMD is limb-girdle affection. Magnetic resonance imaging (MRI), perioral skin biopsies, blood-based assays, reverse-protein arrays, proteomic analyses, gene chips and next generation sequencing are the leading diagnostic techniques for LGMD and gene, cell and pharmaceutical treatments are the mainstay therapies for these genetic disorders. Recently, more highlights have been shed on disease biomarkers to follow up disease progression and to monitor therapeutic responsiveness in future trials. In this study, we review LGMD from a variety of aspects, paying specific attention to newly evolving research, with the purpose of bringing this information into the clinical setting to aid the development of novel therapeutic strategies for this hereditary disease. In conclusion, substantial progress in our ability to diagnose and treat LGMD has been made in recent decades, however enhancing our understanding of the detailed pathophysiology of LGMD may enhance our ability to improve disease outcome in subsequent years.

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e20539 Background: Malignant mesothelioma of the pleura (MMP) is a rare and aggressive malignancy and predominantly affects patients of White race in the U.S. Despite treatment advancements, the 5-year survival rate remains between 5% and 10%. Studies assessing racial disparities in MMP are lacking. We conducted a retrospective study to evaluate prevalence, survival and mortality trends among racial groups. Methods: We used the SEER database to determine the racial prevalence of all histological subtypes of MMP between 2000 and 2019. We calculated racial and histological subtype survival Cox proportional hazard ratios while controlling for age, gender, ethnicity, surgery, chemotherapy, and radiation use. Second, we used the CDC WONDER database to identify all mesothelioma deaths for the same period. Age-adjusted mortality (AAM) rates per 100,000 persons were standardized to 2000 US census data and stratified by race. Results: A total of 12791 patients were identified, mostly White (95%), followed by Blacks (%5) and Asians (0.4%). The percentages of patients with epithelioid, sarcomatoid and biphasic histologies were as follows: Whites (67.6%, 19.2%, 13.2%), Blacks (70.4%, 19.4%, 10.1%), and Asians (64.4%, 23.6%, 11.9%). As demonstrated in Table 1, compared to Whites, regardless of stage, survival was worse for Blacks (HR 1.16) and Asians (HR 1.14). As expected, survival was inferior for pts with sarcomatoid MMP followed by biphasic. Epithelioid MMP had the most favorable prognosis. Lastly, using the CDC WONDER database over the same period, there were 47,323 White, 2,068 Black, and 541 Asian MMP deaths. AAM was 0.8, 0.3, and 0.2 per 100,000 persons for White, Black, and Asian patients, respectively. AAM declined from 2000 to 2019 by 22% (0.9 to 0.7) in White, 50% (0.4 to 0.2) in Black, and 33% (0.3 to 0.2) in Asian. Conclusions: This is one of the largest population-based studies analyzing MMP racial disparities and histologic subtypes. Mortality analysis revealed declines across all racial groups, with the greatest decline among Blacks, which is two-fold that of Whites. However, a survival gap between races and histological subtypes persists. Despite no differences in the prevalence of histologic subtypes, mortality was 16% higher for Black patients when compared to Whites. Asian patients also had a higher risk of death of 14%, though the aggressive sarcomatoid subtype was more prevalent in this racial group. Social determinants of health and biological differences, could be responsible. Further studies are needed. [Table: see text]

e16067 Background: The clinical and mutational profile of Hispanic patients with metastatic colon cancer is not well documented. In this retrospective study, we aim to describe the clinical and mutational profile of Hispanic patients with metastatic colon cancer in central California. Methods: We retrospectively evaluated the clinical and mutational profile of colon cancer at a single institution in Fresno, California from 2010-2019. We selected 136 patients out of which 70 patients self-identified as Hispanic and 66 self-identified as non-Hispanic. We studied clinical parameters and next-generation sequencing via Foundation one testing for these patients. Results: Among Hispanics, there were 43(61%) males and 27(38%) females. The median age at diagnosis was similar in both groups at 57. Right sided colon cancer accounted for 52% of Hispanic patients versus 40% in non-Hispanics. Fifty two percent of Hispanic patients presented with metastatic disease versus 45% in non-Hispanics. The frequency of commonly mutated genes in colon cancer in Hispanics versus non-Hispanics are as follows. KRAS (35.7% vs 37%), NRAS (11% vs 4%) BRAF (8% vs 7%), Her2/neu 0% in both groups. The frequency of other mutations such as TP53, APC, ATM, PTEN, CDKN2A, Myc amplification were also noted to be similar in both groups. PIK3CA mutation was seen in 18.6% of Hispanic patients versus 34% in non-Hispanic population which was statistically significant with a p value = 0.032. Microsatellite instability (MSI) was seen at 3.3% in Hispanics versus 10.6% in non-Hispanics. Tumor mutational burden was similar in both groups. Conclusions: The frequency of actionable mutations was similar in both Hispanic and non-Hispanic patients. Hispanics were noted to have lower PIK3CA and microsatellite instability. Metastatic disease and right sided colon cancer were seen at higher frequency in Hispanic population. Our results were similar to another population-based study which analyzed KRAS mutation with colon cancer patients in Puerto Rico[1]. Larger population based studies would be needed to further assess the differences in this patient population. Ruiz-Candelaria, Y., C. Miranda-Diaz, and R.F. Hunter-Mellado, K-RAS mutation profile in Puerto Rican patients with colorectal cancer: trends from April 2009 to January 2011. Int J Biol Markers, 2013. 28(4): p. e393-7.

BACKGROUND: Movement disorders are not rare in patients with chronic kidney disease (CKD) on hemodialysis (HD). The prevalence and the exact mechanism of these disorders are unknown. Iron deficiency and dopamine dysregulation are implicated from one perspective, whereas chronic inflammation and calcium dysmetabolism may be involved from another perspective. AIM: We studied the prevalence, delay in the diagnosis and the role of iron deficiency, inflammation, and bone abnormalities on some movement disorders in patients with CKD on HD. METHODS: A cross-sectional study examined the prevalence, among patients with CKD on HD in Mosul city, of restless leg syndrome (RLS), periodic limb movement syndrome (PLMS), Parkinsonism, asterixis, and myoclonus. Delay in diagnosis of these disorders was also studied. Validated questionnaires and specified neurological examination were applied to define patients with these disorders. Using IBM® SPSS® v. 23 statistical software, we compared between the different groups of patients by different parameters (case–control design). RESULTS: Among 281 enrolled CKD patients on HD in Mosul city, the prevalence of RLS, PLMS, Parkinsonism, asterixis, and myoclonus was 28.72%, 17.02%, 2.84%, 20.92%, and 24.11% respectively. Average delay in diagnoses was 2.6 (±3.09) years, 3.02 (±3.13) years, 1 (±0.78) year, 1.23 (±1.51) years, and 2.28 (±2.34) years, respectively. Median duration of dialysis in patients with PLMS and Parkinsonism tended to be higher than in those without PLMS or Parkinsonism. Neither inflammation, ferritin level nor bone dysmetabolism discriminated patients with CKD on HD with and without these movement disorders. CONCLUSIONS: Movement disorders are prevalent in patients with CKD on HD. In Mosul city, there would be still delay in diagnosis and treatment of these movement disorders. The longer the duration on HD, the more frequent the PLMS and Parkinsonism cases.

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Background: The COVID-19 pandemic has brought a spotlight on the high incidence of thrombosis and abnormal coagulation parameters in patients with the 2019 novel coronavirus. We evaluated 30 day mortality and thrombotic events relative to anticoagulation therapy and coagulation parameters in Hispanic and non-Hispanic patients in California's central valley. Methods: We identified 886 non-pregnant adults hospitalized at Community Medical Centers in the Central Valley of California with SARS-CoV2 infections from 3/1/20 to 9/1/20. We conducted manual chart review and excluded patients on long term anticoagulation prior to admission. We collected data on ethnicity, coagulation labs, thrombotic events and 30 day all-cause mortality outcomes. The distributions of variables were reviewed to detect illogical and out of range values. Differences in means of continuous variables were evaluated via the t-test. Differences in categorical variables were evaluated with chi square tests. All tests are two-sided and a p-value < 0.05 was considered statistically significant. Results: Among the 866 COVID positive patients, 568 (64%) were Hispanic and 318 (36%) were non-Hispanic. The gender distribution was equivalent with 57% males and 43% females. Hispanic patients were younger with a mean age of 56.1 years vs 63.2 years in non-Hispanics. Mean BMI was 32.7 for Hispanics and 30.5 for non-Hispanics (p<0.05). The risk factor assessment for severe COVID-19 infection revealed a history of thrombosis or thrombophilia, bleeding tendency, obesity, active cancer, diabetes, cardiovascular disease, end stage renal disease, liver cirrhosis and immunosuppression, all of which were not statistically significant between Hispanics and non-Hispanics. However, chronic lung disease (p<0.05) and residing in a skilled nursing or long-term care facility (p<0.001) were statistically significant (Table 1). 16% of non-Hispanics had chronic lung disease vs 10.9% of Hispanics. Likewise, 10.4% of non-Hispanics inhabited care facilities compared to 3.9% of Hispanics. Review of initial CRP values exhibited statistical significance (p=0.017) amidst Hispanics at 145.3 and non-Hispanics at 124.8. Other labs including PT, INR, PTT, d-dimer, fibrinogen, platelets, ferritin and ESR were not statistically significant between ethnic groups. Mean hospital stay for Hispanics and non-Hispanics were analogous at 12.8 days and 12.9 days respectively. Intensive care unit admission rates were higher for Hispanics at 32.7% (186/568) in contrast to non-Hispanics at 28.3% (90/318) (p=0.171). Evaluation of 30 day mortality revealed that 14.2% (81/568) of Hispanic patients died compared to 17.9% (57/317) of non-Hispanic patients. (p=0.147). The bleeding rate was 4.8% in Hispanics and 3.8% in non-Hispanics. 59 (6.6%) patients experienced some form of thrombosis, which was dichotomized to show that 39 (6.8%) Hispanics and 20 (6.2%) non-Hispanics incurred thrombosis during hospitalization. 19.4% (18/93) of patients on therapeutic anticoagulation and 5.1% (34/657) of patients on prophylactic low dose anticoagulation developed thrombosis (P=0.00001). 30 day mortality was higher in patients receiving therapeutic vs low dose standard anticoagulation prophylaxis (20.4% Vs 14.5%. p=0.006). Thrombotic events transpired at 4.7% (22/464) in patients with initial d-dimer <2500 in comparison to 15.8% (19/120) of patients with values ≥2500 (p<0.001). Additionally, 30 day mortality was lower for patients with d-dimer < 2500 at 13.4% (62/464) than for patients with d-dimer ≥ 2500 at 30.8% (37/120) (p<0.001). Prothrombin time (PT) > 16 correlated with a higher incidence of thrombosis (17% vs 6.7%. p<0.001) and 30-day mortality (36% vs 15.9%. p <0.001). Similarly, 30 day mortality was increased in patients with ferritin > 1000 (22.7% vs 12.1%. p= 0.002). However, the same was not observed for ferritin levels and thrombosis. Conclusions: This study illuminates ethnic variances with respect to COVID-19 hospital outcomes. Hispanic patients were younger and had less risk factors for severe COVID-19 infections. Regardless of ethnic differences, incidence of thrombosis and 30 day mortality were similar. Despite sicker patients receiving therapeutic anticoagulation, the 30 day mortality and rate of thrombotic events remain higher among these patients. D-dimer ≥ 2500 and elevated PT were associated with higher rate of thrombosis and death. Figure 1 Figure 1. Disclosures Abdulhaq: BMS, Alexion, Oncopeptides, Morphosys, Pfizer, Norvartis: Honoraria; Oncopeptides, Alexion, Amgen: Speakers Bureau; Morphosys, BMS, Amgen: Membership on an entity's Board of Directors or advisory committees.