Sickle Cell Trait Research Articles

Comparison of Sickle SCAN and Hemotype SC As Point-of-Care Newborn Screening Diagnostics for Sickle Cell Disease in Luanda, Angola

Background: Sickle cell disease (SCD) is among the most common, lethal and poorly recognized diseases globally. Over 300,000 children are born each year with SCA and most die by five years, primarily due to the lack of timely and accurate diagnosis. In high-resource countries, early identification of SCD through newborn screening (NBS) is routine and subsequent delivery of preventive measures and comprehensive care is highly effective in reducing morbidity and early mortality. In lower-resource settings, where the incidence of SCD is much higher, NBS is limited to only a few pilot programs. Despite the proven efficacy of NBS, large-scale implementation remains infeasible in many sub-Saharan countries due to inadequate financial, laboratory, and technical resources. In the pilot NBS program in Angola, only 56% of infants with SCD were able to be contacted to relay results due to delays in traditional laboratory diagnostic methods, lack of traditional mailing system or primary care providers, and inconsistent telephone numbers. The development and deployment of low-cost, rapid, user-friendly, and accurate diagnostic testing for SCD is imperative.There are two promising point-of-care (POC) tests (Sickle SCAN and HemoTypeSC) that may allow for a simplified approach to newborn screening for SCD. There have been few real-world studies that compare these tests head to head, particularly in the setting of NBS, where accurate diagnosis amidst high levels of fetal hemoglobin is critical. We performed a study at maternity centers and immunization centers in Luanda, Angola to evaluate the real-world accuracy of these tests.Methods: The study was a prospective evaluation of two rapid, POC tests (Sickle SCANÔ or HemoTypeSCÔ) ain Luanda, Angola, with laboratory confirmation using a dried blood spot (DBS) by isoelectric focusing (IEF), defined as the gold standard. To evaluate the real-world feasibility and accuracy, with the guidance of the Angolan Ministry of Health, we selected 10 sites, including both birth hospitals and vaccination sites, to screen infants < 6 months of age. Due to the complexity of performing more than one POC at once, we focused on one POC test at a time and planned to test 100 infants with each test at each site, for a total of 2,000 infants tested overall. The study was designed to mimic a real-world setting with all POC testing performed and interpreted by local healthcare staff (nurses, students, and laboratory technicians) with basic instructions as to the use of each test.Results: Blood samples were collected from 2,000 infants from age 0 to 6 months of age, including 1,000 with Sickle SCAN and 1,000 with HemoTypeSC. 42 HemoTypeSC samples (4.2%) and 6 Sickle SCAN results (0.6%) were not included in the final analysis, as results were not interpreted in the recommended time frame (5 minutes for Sickle SCAN an 10 minutes for HemoTypeSC). Consistent with prior studies in Angola, the burden of sickle cell trait (AS, 21.9%) and sickle cell anemia (HbSS, 1.7%) was high. 63% of the tests were performed in maternity wards at the time/day of birth and 37% were performed in immunization centers through the first 6 months of life. The HemoTypeSCÔ took an average of 15 minutes to obtain a result, was repeated 68 times (6.8%) due to invalid results, and was read incorrectly 4 times (0.4%). The SickleScanÔ took an average of 7 minutes to run, was repeated 2 times (0.2%) due to invalid results, and read incorrectly 11 times (1.1%). All results were compared to the gold standard IEF and both tests correlated perfectly (100%) with the IEF results, excluding 12 samples that had inconclusive IEF results.Conclusions: This study demonstrates the feasibility and accuracy of both HemoTypeSC and Sickle SCAN for diagnosing SCD in newborns in a limited-resource setting of Luanda, Angola. Given the complexities of testing in the newborn period at busy maternity hospitals, it appears that testing at immunization centers may be a more practical solution to early infant diagnosis programs for SCD. While both HemoTypeSC and Sickle SCAN were accurate, Sickle SCAN was preferred by local staff likely due to the shorter time to interpretation and reduced need for repeating the test. Further implementation studies are needed, including careful analysis of end-user cost, to determine the appropriate strategy for these POC tests in low-resource setting of sub-Saharan Africa. DisclosuresNo relevant conflicts of interest to declare.

Screening by Self-Report Underestimates Sickle Cell Trait in High-School Athletes.

Background: Sickle cell trait (SCT) has received attention as a cause of death in college athletes, leading to mandatory lab SCT screening in National Collegiate Athletic Association (NCAA) athletes. High-school athletes are commonly screened by self-report. There are no known studies for evaluating whether this method is effective as a screening tool.Hypothesis: The local prevalence rate of SCT as self-reported on the preparticipation evaluation (PPE) forms would be lower than the national accepted average.Methods: PPE forms from the Department of Orthopedics and Rehabilitation of the University of Florida (UF) were reviewed between January 1, 2017, and April 30, 2018. The Florida High School PPE form includes a yes/no question to assess the diagnosis of SCT. The prevalence established by self-report was then compared with the national prevalence for SCT in the comparable race/ethnicity groups reported by the CDC. The response rate of SCT questions was also compared to other common cardiac screening questions.Results: A total of 401 forms were reviewed. Six (1.5%) students answered “yes,” 351 answered “no,” and 44 left the SCT question blank. All six athletes who self-reported “yes” were Black and made up 3.7% of the 162 known Black respondents. This self-report rate for Black/African Americans was well below the expected 7.3% described by the CDC. Response rates were also lower than the comparable cardiac screening questions.Conclusions: Self-report SCT status rates are lower than the accepted prevalence in a similar population. Significant inconsistencies in reporting were also determined.Clinical relevance: This is a rare study to evaluate the self-reported prevalence of SCT in high-school athletes. Below average reporting of SCT and inconsistency in completion of the forms increase the concern for accuracy and effectiveness of current high-school SCT screening methods relying on self-report.

Translocation carcinomas of the kidney.

The MiT subfamily of transcription factors includes TFE3, TFEB, TFEC, and MITF. Gene fusions involving two of these transcription factors have been well-characterized in renal cell carcinoma (RCC). The TFE3-rearranged RCC (also known as Xp11 translocation RCC) was first officially recognized in the 2004 World Health Organization (WHO) renal tumor classification. The TFEB-rearranged RCC, which typically harbor a t(6;11)(p21;q12) translocation which results in a MALAT1-TFEB gene fusion, were first officially recognized in the 2016 WHO renal tumor classification. These two subtypes of translocation RCC have many similarities. Both disproportionately involve young patients, although adult translocation RCC overall outnumber pediatric cases. Both often have unusual and distinctive morphologies; the TFE3-rearranged RCCs frequently have clear cells with papillary architecture and abundant psammoma bodies, while the TFEB-rearranged RCCs frequently have a biphasic appearance with both small and large epithelioid cells and nodules of basement membrane material. However, the morphology of these two neoplasms can overlap, with one mimicking the other or other more common renal neoplasms. Both of these RCC underexpress epithelial immunohistochemical markers, such as cytokeratin and epithelial membrane antigen, relative to most other RCC. Unlike other RCC, both frequently express the cysteine protease cathepsin k and often express melanocytic markers like HMB45 and Melan A. Finally, TFE3 and TFEB have overlapping functional activity as these two transcription factors frequently heterodimerize and bind to the same targets. Therefore, these two neoplasms are now grouped together under the heading of "MiT family translocation RCC." Approximately 50 renal cell carcinomas with gene fusions involving the anaplastic lymphoma kinase (ALK) gene have now been reported. While those with a Vinculin-ALK fusion have distinctive features (predilection to affect children with sickle cell trait and to show solid architecture with striking cytoplasmic vacuolization), other ALK-fusion RCCs have more varied clinical presentations and pathologic features. This review summarizes our current knowledge of these recently described RCC.

Jaundice in a Preterm Infant Twelve Hours After Birth.

Jaundice in a Preterm Infant Twelve Hours After Birth.

Hematuria and Flank Pain in a Patient with Sickle Cell Trait Who Is Taking NSAIDs.

Hematuria and Flank Pain in a Patient with Sickle Cell Trait Who Is Taking NSAIDs.

Legitimate suffering: a case of belonging and sickle cell trait in Brazil

Patient activism organizations are formed around and seek legitimacy via both biological and biographical identities (Fassin, in: Theory Cult Soc 26(5):44–60, 2009). In the case of sickle cell disease (SCD) in Brazil, two different modes of suffering authenticate the lived experience—one is based on the disease state, the other is based on the ways in which racial inequalities and disadvantage contribute to its own suffering while also entangled with disease-based suffering. SCD is a rare genetic disorder that affects red blood cells and whose hallmark symptom is pain. This paper places an ethnographic focus on the failed mobilization of suffering by an organization leader in attempts to make claims for inclusion. The leader’s social and biological identities of mother, sickle cell trait carrier, middle class, and mulata disrupted biosocial cohesion. This disruption reveals a hierarchy of suffering, where some indices of suffering are delegitimized. This hierarchy illuminates how exclusion and representation work within a patient organization whose membership embody both physical and social distress.

Imaging Blood-Brain Barrier Permeability Through MRI in Pediatric Sickle Cell Disease: A Feasibility Study.

Blood-brain barrier (BBB) disruption may lead to endothelium dysfunction and inflammation in sickle cell disease (SCD). However, abnormalities of BBB in SCD, especially in pediatric patients for whom contrast agent administration less than optimal, have not been fully characterized. To examine BBB permeability to water in a group of pediatric SCD participants using a non-invasive magnetic resonance imaging technique. We hypothesized that SCD participants will have increased BBB permeability. Prospective cross-sectional. Twenty-six pediatric participants (10 ± 1 years, 15F/11M) were enrolled, including 21 SCD participants and 5 sickle cell trait (SCT) participants, who were siblings of SCD patients. 3 T. Water extraction with phase-contrast arterial spin tagging with echo-planer imaging, phase-contrast and T1 -weighted magnetization-prepared rapid acquisition of gradient echo. Water extraction fraction (E), BBB permeability-surface area product (PS), cerebral blood flow, hematological measures (hemoglobin, hematocrit, hemoglobin S), neuropsychological scores (including domains of intellectual ability, attention and executive function, academic achievement and adaptive function, and a composite score). Regions of interest were drawn by Z.L. (6 years of experience). Wilcoxon rank sum test and chi-square test for group comparison of demographics. Multiple linear regression analysis of PS with diagnostic category (SCD or SCT), hematological measures, and neuropsychological scores. A two-tailed P value of 0.05 or less was considered statistically significant. Compared with SCT participants, SCD participants had a significantly higher BBB permeability to water (SCD: 207.0 ± 33.3 mL/100 g/minute, SCT: 171.2 ± 27.2 mL/100 g/minute). SCD participants with typically more severe phenotypes also had a significantly leakier BBB than those with typically milder phenotypes (severe: 217.3 ± 31.7 mL/100 g/minute, mild: 193.3 ± 31.8 mL/100 g/minute). Furthermore, more severe BBB disruption was associated with worse hematological symptoms, including lower hemoglobin concentrations (β=-8.84, 95% confidence interval [CI] [-14.69, -3.00]), lower hematocrits (β=-2.96, 95% CI [-4.84, -1.08]), and higher hemoglobin S fraction (β=0.77, 95% CI [0.014, 1.53]). These findings support a potential role for BBB dysfunction in SCD pathogenesis of ischemic injury. 2 TECHNICAL EFFICACY: Stage 2.

A Traditional Review of Sickle Cell Disease and the Associated Onset of Dementia: Hematological and Neurocognitive Crossroads.

Sickle cell trait and disease are potential risk factors for dementia and cognitive dysfunction in African Americans, as are genetic variants. This illness affects around 300 million people globally. Due to its ability to defend against severe malaria, it represents an evolutionary survival advantage. It has been shown that sickle cell disease and trait are independent risk factors for the prevalence and incidence of albuminuria and chronic renal disease. Sickle cell anemia impairs cognitive performance in people with minimal or mild manifestations of the genetic blood disorder, owing mostly to its cerebrovascular implications. Similarly, various cerebral minor vascular disorders, such as silent cerebral infarcts, have been linked to the sickle cell trait, which is associated with impaired cognitive ability. It has been found that patients with sickle cell disease have a significantly decreased subcortical and cortical brain volume. Adults and children with sickle cell disease have been documented to have attention-related issues, particularly reduced sustained attention.

Patient characteristics in tardive COVID-19 pseudoperniosis: a case series of 16 patients.

SummaryBackgroundAcute pseudoperniosis (PP) has a recognized association with COVID‐19 and tends to occur without cold precipitation in young, healthy patients, often without a clear history of COVID‐19. These lesions usually resolve within 2 weeks and without long‐term sequelae. In the early months of 2021, patients with delayed and protracted PP began to emerge. We have called this presentation ‘tardive COVID‐19 PP (TCPP)’.AimTo consolidate and expand knowledge on TCPP, we describe the clinical characteristics, treatments and outcomes of 16 patients with TCPP who were reviewed by our outpatient dermatology service.ResultsThe initial clinical manifestations were erythema, swelling and PP of the fingers in 56.2%, and of the toes in 31.2%, desquamation in 56.2% and acrocyanosis in 12.5%. Ten patients had eventual involvement of all acral sites. The median duration of symptoms was 191 days. Six patients reported close contact with a confirmed or suspected case of COVID‐19, but only two had positive COVID‐19 tests. Four patients experienced complete or almost complete resolution of symptoms, while the rest remain under active treatment.ConclusionUnlike acute PP, TCPP has a protracted and delayed presentation that is typically associated with profound acrocyanosis. Patients with TCPP represent a new phenomenon that is part of the post‐COVID‐19 syndrome, with risk factors and pathophysiology that are not yet fully understood. Our data indicate that likely predisposing factors for developing TCPP include young age, a preceding history of cold intolerance and an arachnodactyloid phenotype. Anorexia, connective tissue disorders or sickle cell trait may also predispose to TCPP. In addition, low titre antinuclear antibody positivity, the presence of cryoglobulins, or low complement levels may represent further risk factors. Finally, prolonged low temperatures are also likely to be contributing to the symptoms.

Evaluation of Microchip-Based Point-Of-Care Device "Gazelle" for Diagnosis of Sickle Cell Disease in India.

Sickle cell disease is a major public health problem in India. Lack of rapid and reliable diagnostic methods result in many avoidable deaths in affected population. Current diagnostic tools are laboratory based, expensive and need trained manpower. Here, we evaluated the performance of a microchip-based cellulose acetate electrophoresis test, “Gazelle” in the tribal-dominated Indian states of Chhattisgarh and Madhya Pradesh. A total of 1,050 patients were screened by sickle cell solubility, hemoglobin (cellulose acetate) electrophoresis, high-performance liquid chromatography (HPLC) and Gazelle. Of the total 1,027 test results obtained, 960 tests were “Valid” (93.5%) and included in the analysis. Gazelle identified all patients with disease (HbSS and Thalassemia Major) with 100% accuracy. Gazelle demonstrated 100% sensitivity when comparing sickle cell disease (SCD) vs. sickle cell trait and SCD vs. normal. Specificity was 98.9% and 99.5% when comparing SCD vs. trait and trait vs. normal, respectively. Specificity was 99.8% when comparing SCD vs. normal and sensitivity was 99.3% when comparing trait vs. normal. Overall, Gazelle yielded a high accuracy (99.0%) compared to reference standard tests (hemoglobin electrophoresis and HPLC). Gazelle is a low-cost, rapid diagnostic test with high accuracy for detecting SCD both quantitatively and qualitatively. Gazelle can be a potential screening tool for the rapid diagnosis in resource limited settings and developing countries with high burden of hemoglobin disorders.

APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study

IntroductionAPOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) populations.MethodsIn a cross-sectional study, we evaluated the prevalence of these risk variants and their association with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban (n = 587) and rural (n = 730) adults from South-Kivu, DR Congo (DRC). Furthermore, we evaluated APOL1 recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive GSTM1 genotypes.ResultsThe frequencies of the APOL1 G1 and G2 alleles were 8.7% and 9.1%, respectively, and 3.2% carried the HR genotype. SCT and GSTM1 null allele frequencies were 3.8% and 51.2%, respectively. APOL1 HR was associated with lower eGFR (P = 0.047, odds ratio [OR] = 4). Individuals with SCT exhibited lower eGFR (P = 0.018), higher albuminuria (P = 0.032), and 2.4× increased risk of CKD (P = 0.031). APOL1 HR and SCT were synergistically associated with lower eGFR (Pinteraction = 0.012). The GSTM1 null allele was not significantly associated with any renal outcomes.ConclusionOur study highlighted the impact of APOL1 and SCT variants on poorer renal outcomes in the DRC and advocates for further genetic studies in SSA settings.

Strenuous exercise in warm environment is associated with improved microvascular function in sickle cell trait.

Sickle cell trait ischaracterized by the presence of both normal and abnormal haemoglobin in red blood cells. The rate of exertional collapse is increased in athletes and military recruits who carry the trait, particularly in stressful environmental conditions. The aim of the present study was to investigate microvascular function and its determinants in response to intense exercise at control and warm environmental temperatures in carriers (AS) and non-carriers (AA) of sickle cell trait. Nine AS and 11 AA, all healthy physically active young men, randomly participated in four experimental sessions (rest at 21°C and 31°C and cycling at 21°C and 31°C). All participants performed three exercises bouts as follows: 18-min submaximal exercise; an incremental test to exhaustion; and three 30-s sprints spaced with 20-s resting intervals. Skin Blood Flow (SkBF) was similar at rest between AA and AS. SkBF for all participants was higher at 31°C than 21°C. It was significantly higher in the AS group compared to the AA group immediately after exercise, regardless of the environmental conditions. No significant differences in hemorheological parameters, muscle damage or cardiac injury biomarkers were observed between the two groups. Our data also suggest higher oxidative stress for the AS group, with high superoxide dismutase (P = 0.044 main group effect). A specific profile is identified in the AS population, with increased microvascular reactivity after maximal exercise in stressful environment and slight pro-/antioxidant imbalance.

1067 Neoplasia in Association with a Congenital Anomaly: Wilms Tumor in a Horseshoe Kidney

Abstract Introduction Horseshoe malformation is the most common form of fusion defects involving the kidney, whereas Wilm's tumor is the most common primary malignant renal tumor in children. The co-incidence of these two pathologies gives off an incidence rate of 0.48%. Case Report This is a case of a two-year-old female who presented early in life with multiple congenital anomalies including congenital heart disease, bilateral aniridia, persistent thrombocytopenia, and sickle cell trait in association with a painless abdominal mass. A CT scan showed a horseshoe kidney. The patient was lost for follow up until the age of two years, in which another CT scan revealed a left lower pole focal cystic mass measuring 5.1x5.3x6.3cm. WAGR syndrome was suspected and confirmed through genetic testing. A multidisciplinary approach was necessary to manage her efficiently due to the numerous co-existing congenital pathologies. The patient underwent six cycles of chemotherapy leading to a 35% reduction in tumor size and a left nephrectomy. She was admitted to the pediatric ICU post-operatively for observation. Histopathological analysis revealed features of stage two stromal type nephroblastoma. Her renal function and urine output were satisfactory throughout the duration of her admission as well as on follow up. Conclusions Keeping a high index of suspicion is imperative; individuals with renal anomalies, namely horseshoe kidney in the context of WAGR syndrome, mandate a comprehensive assessment through clinical examination, laboratory workup, and imaging. Though different approaches to standard Wilm's tumor cases have been explored thoroughly, it is crucial to keep in mind the need for multidisciplinary involvement in patients with multiple congenital anomalies.

Restriction of HIV-1 infection in sickle cell trait

AbstractPatients with sickle cell disease (SCD) have a lower risk for HIV-1 infection. We reported restriction of ex vivo HIV-1 infection in SCD peripheral blood mononuclear cells (PBMCs) that was due, in part, to the upregulation of antiviral, inflammatory, and hemolytic factors, including heme oxygenase-1 (HO-1). Here, we investigated whether individuals with sickle cell trait (SCT), who develop mild hemolysis, also restrict HIV-1 infection. Ex vivo infection of SCT PBMCs exhibited an approximately twofold reduction of HIV-1 replication and lower levels of HIV-1 reverse transcription products, 2-long terminal repeat circle, HIV-1 integration, and gag RNA expression. SCT PBMCs had higher HO-1 messenger RNA (mRNA) and protein levels and reduced ribonucleotide reductase 2 (RNR2) protein levels. HO-1 inhibition by tin porphyrin eliminated ex vivo HIV-1 restriction. Among Howard University clinic recruits, higher levels of HO-1 and RNR2 mRNA and lower HIV-1 env mRNA levels were found in SCT individuals living with HIV-1. To determine the population-level effect of SCT on HIV-1 prevalence, we assessed SCT among women living with HIV (WLH) in the WIHS (Women Interagency HIV-1 Study). Among WIHS African-American participants, the prevalence of SCT was lower among women with HIV compared with uninfected women (8.7% vs 14.2%; odds ratio, 0.57; 95% confidence interval, 0.36-0.92; P = .020). WIHS WLH with SCT had higher levels of CD4+/CD8+ ratios over 20 years of follow-up (P = .003) than matched WLH without SCT. Together, our findings suggest that HIV-1 restriction factors, including HO-1 and RNR2, might restrict HIV-1 infection among individuals with SCT and limit the pathogenicity of HIV.

SMARCB1(INI1)-deficient renal cell carcinoma: medullary and beyond : Evolving concepts

During the last decades, the SWI/SNF chromatin-remodeling complex has received enormous recognition as amajor player in the molecular pathogenesis of diverse neoplasms. Accordingly, SWI/SNF defects affecting different subunits of the complex became defining genetic features in the nosology of different neoplastic entities. In the kidney, loss of SMARCB1(INI1) as amajor component of the SWI/SNF complex has emerged as the defining genetic marker for renal medullary carcinoma and pediatric malignant rhabdoid tumor. Diagnosis of these two rare entities is based on aset of defined demographic, clinicopathological, immunophenotypic, and genetic (SMARCB1 loss) criteria. Moreover, the sickle cell trait is considered aprerequisite for renal medullary carcinoma. Current knowledge illustrates that SMARCB1 loss is encountered in three major tumor categories in the kidney: (1)histologically defined neoplasms that are primarily driven by de novo SMARCB1 loss (renal medullary carcinoma and malignant rhabdoid tumor); (2)SMRACB1-deficient renal cell carcinoma (RCC) with variable non-specific histology ranging from collecting duct-like, papillary high-grade (papillary type2), or medullary-like (lacking sickle cell trait), to fully undifferentiated; and (3)biphasic (dedifferentiated) RCC showing a variable SMARCB1-deficient undifferentiated component. The latter variant most frequently originates from pre-existing clear cell RCC but may rarely superimpose on papillary or chromophobe RCC. This review summarizes the major defining features of the emerging SMARCB1-deficient renal neoplasms. All SMARCB1-deficient carcinomas have apoor prognosis in common. Therefore, exact diagnosis of these tumors is aprerequisite for studies investigating new therapies.

Sickle cell disease promotes sex-dependent pathological bone loss through enhanced cathepsin proteolytic activity in mice

AbstractSickle cell disease (SCD) is the most common hereditary blood disorder in the United States. SCD is frequently associated with osteonecrosis, osteoporosis, osteopenia, and other bone-related complications such as vaso-occlusive pain, ischemic damage, osteomyelitis, and bone marrow hyperplasia known as sickle bone disease (SBD). Previous SBD models have failed to distinguish the age- and sex-specific characteristics of bone morphometry. In this study, we use the Townes mouse model of SCD to assess the pathophysiological complications of SBD in both SCD and sickle cell trait. Changes in bone microarchitecture and bone development were assessed by using high-resolution quantitative micro–computed tomography and the three-dimensional reconstruction of femurs from male and female mice. Our results indicate that SCD causes bone loss and sex-dependent anatomical changes in bone. SCD female mice in particular are prone to trabecular bone loss, whereas cortical bone degradation occurs in both sexes. We also describe the impact of genetic knockdown of cathepsin K– and E-64–mediated cathepsin inhibition on SBD.

Practice Patterns for the Acceptance of Medically Complex Living Kidney Donors with Hematuria, Sickle Cell Trait, Smoking, Illegal Drug Use, or Urological Issues: A Multinational Survey.

Background To review the practice patterns for the acceptance of medically complex living kidney donors (MCLKD) among the transplant providers of the international transplant community. Methods We distributed a survey globally, through major international transplantation societies, among nephrologists and transplant surgeons (TS). The survey contained questions regarding potential donors with microscopic hematuria, sickle cell trait, renal cysts, kidney stones, smoking, or illegal drug use. Results There were 239 respondents from 29 countries, including nephrologists (42%) and TS (58%). Although most respondents would investigate microscopic hematuria, one-third of them indicated they would decline these potential donors without investigation. Interestingly, most respondents accepted heavy smokers, intermittent illegal drug users (with advice to quit), and those with incidentally identified kidney stones, remote history of renal colic or simple renal cysts. We found multiple areas of consensus in practice with some interesting differences between nephrologists and TS. Conclusions This survey highlights the practice patterns of the acceptance of MCLKDs among the international community. In the absence of clear guidelines, this survey provides additional information to counsel kidney donors with microscopic hematuria, sickle cell trait, renal cysts, kidney stones, heavy smoking, or illegal drug use.

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

Renal Comorbidities and New Acute Kidney Failure Drive Unfavorable Outcomes Among COVID-19-Positive Sickle Cell Trait Carriers

Renal Comorbidities and New Acute Kidney Failure Drive Unfavorable Outcomes Among COVID-19-Positive Sickle Cell Trait Carriers

A case report on Rheumatoid Arthritis with sickle cell trait

A female patient aged 6 years, a suspected case of sickle cell trait (SCT) having symptoms of Rheumatoid arthritis (RA), while evaluating joint complaints in adult sickle cell disease (SCD) patients, a number of sickle cell-based entities come to mind such as avascular necrosis, osteomyelitis, bone infarcts, and septic arthritis. RA is a chronic systemic inflammatory disease, many reports highlighted the occurrence of RA in SCD presenting as diagnostic challenges for cases with chronic inflammatory arthritis, SCT also have appeared to persist in some populations at a perplexingly high rate given the degree of early mortality of homozygosity of SCD, our case report showed that not only SCD but if a patient has SCT they can develop RA as complication. Our case report concludes that during the evaluation of a SCT patient who presents with chronic synovitis, one should strongly consider the possibility of coexistence of RA and SCT.