Asplenia Research Articles

Global awareness of antigenic peptides - Unraveling the impact on sickle cell anemia patients in the presence of pathogens: A narrative review.

Sickle cell anemia (SCA) is a genetic blood disorder characterized by the production of abnormal hemoglobin S (HbS), leading to sickle-shaped red blood cells and various complications, including increased susceptibility to infections. The presence of antigenic peptides, short amino acid sequences derived from pathogens or altered self-proteins, plays a crucial role in immune responses. This review explores the global awareness of antigenic peptides, their role in immune responses in SCA patients, and the challenges and opportunities in managing infections within this vulnerable population. Antigenic peptides are central to the adaptive immune response, facilitating the recognition and elimination of pathogens by T-cells. In SCA, altered antigen presentation and impaired T-cell responses due to chronic inflammation, functional asplenia, and ongoing hemolysis contribute to increased susceptibility to infections. Pathogens such as Streptococcus pneumoniae and Haemophilus influenzae pose significant risks to SCA patients, highlighting the importance of robust immune responses mediated by antigenic peptides. Strategies such as vaccination and immunotherapy aim to enhance immune function by targeting specific antigenic peptides, thereby reducing infection rates and improving patient outcomes. Advances in genomics and proteomics offer insights into individual variations in antigen presentation and immune responses, guiding the development of tailored therapeutic interventions. Global collaborations are essential to address disparities in healthcare access and implement effective preventive measures, ensuring equitable outcomes for SCA patients worldwide.

Posicionamiento de la Sociedad Española de Infectología Pediátrica sobre el diagnóstico y tratamiento de la infección por Mycoplasma pneumoniae

Mycoplasma pneumoniae (MP) is a bacterium with particular characteristics that give rise to a broad clinical spectrum, and respiratory infection is the most frequent presentation. Infection by MP occurs in cyclical epidemics, and paediatricians in Spain have noticed an increase in cases since January 2024, establishing hospital registers to collect surveillance data (as it is not a notifiable disease in Spain). The diagnosis of infection by MP is made through serological testing and/or the detection of genetic material by means of polymerase chain reaction (PCR). Neither methods can differentiate between colonization and active infection, so a precise diagnosis is not possible and testing should only be requested in the case of high clinical suspicion. The role of antibiotherapy in infection by MP in its different clinical variants is not well defined. Most infections are self-limiting and mild, and there is insufficient evidence to support the use of antibiotherapy in these cases. Antibiotic treatment is justified in patients with risk factors for the development of severe disease (Down syndrome, anatomical or functional asplenia, immunosuppression), in hospitalized patients with respiratory infection and in patients with moderate or severe extrapulmonary forms. Taking into account aspects concerning the rational use of antimicrobials, the treatment of choice would be clarithromycin, with azithromycin as an alternative, reserving the use of doxycycline and levofloxacin for cases of antimicrobial resistance and/or infections of the central nervous system.

Use of the Pfizer Pentavalent Meningococcal Vaccine Among Persons Aged ≥10 Years: Recommendations of the Advisory Committee on Immunization Practices - United States, 2023.

Meningococcal disease is a life-threatening invasive infection caused by Neisseria meningitidis. Two quadrivalent (serogroups A, C, W, and Y) meningococcal conjugate vaccines (MenACWY) (MenACWY-CRM [Menveo, GSK] and MenACWY-TT [MenQuadfi, Sanofi Pasteur]) and two serogroup B meningococcal vaccines (MenB) (MenB-4C [Bexsero, GSK] and MenB-FHbp [Trumenba, Pfizer Inc.]), are licensed and available in the United States and have been recommended by CDC's Advisory Committee on Immunization Practices (ACIP). On October 20, 2023, the Food and Drug Administration approved the use of a pentavalent meningococcal vaccine (MenACWY-TT/MenB-FHbp [Penbraya, Pfizer Inc.]) for prevention of invasive disease caused by N. meningitidis serogroups A, B, C, W, and Y among persons aged 10-25 years. On October 25, 2023, ACIP recommended that MenACWY-TT/MenB-FHbp may be used when both MenACWY and MenB are indicated at the same visit for the following groups: 1) healthy persons aged 16-23 years (routine schedule) when shared clinical decision-making favors administration of MenB vaccine, and 2) persons aged ≥10 years who are at increased risk for meningococcal disease (e.g., because of persistent complement deficiencies, complement inhibitor use, or functional or anatomic asplenia). Different manufacturers' serogroup B-containing vaccines are not interchangeable; therefore, when MenACWY-TT/MenB-FHbp is used, subsequent doses of MenB should be from the same manufacturer (Pfizer Inc.). This report summarizes evidence considered for these recommendations and provides clinical guidance for the use of MenACWY-TT/MenB-FHbp.

Streptococcus pneumoniae Infection in Patients with Asplenia: A Spanish Perspective over a 25-Year Period.

Anatomical or functional asplenia constitutes a risk factor for Streptococcus pneumoniae (SP) infection, being more frequent in children and the elderly and in people with multiple comorbidities. We aimed to describe the impact of invasive pneumococcal disease (IPD) on the clinical features and outcomes of patients hospitalized for asplenia in Spain. Discharge reports from the Spanish Minimum Basic Data Set were used to retrospectively analyze hospital discharge data with a diagnosis of asplenia from 1997 to 2021. A total of 132,257 patients with asplenia (splenectomized/non-splenectomized) were identified from the Spanish database. Among the cases, 177 (37.5%) patients with splenectomy and 295 (62.5%) patients without splenectomy developed IPD. The clinical presentations (non-infection vs. infection) did not significantly differ between the two reference groups, except for patients with COPD, rheumatoid disease, AIDS, other neurological disorders, metastatic cancer, and drug abuse. The risk factors for IPD were also more frequently reported in patients without splenectomy (p < 0.001) and with comorbidities (p = 0.005). The study of patients with asplenia provides relevant information about the state of SP infection. This epidemiological tracking can serve to better understand the comorbidities that affect them, the risk factors for the disease, the prediction of antibiotic use, and vaccination in public health, among other factors.

Congenital asplenia impairs heme-iron recycling during erythropoiesis in zebrafish

The spleen is postulated to be a hematopoietic tissue in adult fish; however, clear evidence is still lacking to define its role in hematopoietic activity. In our previous study, a congenitally asplenic zebrafish was generated though gene editing, which provided a new perspective for studying the role of fish spleen in hematopoiesis. In this study, HSC-regulated and erythrocyte marker genes, such as gata1a, gata2, klf1, hbaa1, hbaa2, hbba1 and hbba2 were significantly reduced in congenitally asplenic zebrafish when compared with wild-type (WT). Subsequently, we conducted the transcriptome profiles of whole kidneys from WT and congenitally asplenic zebrafish to explore the possible molecular mechanisms underlying the impaired erythropoiesis caused by congenital asplenia. Our results demonstrated that congenital asplenia might impair heme-iron recycling during erythropoiesis, as evidenced by significant down-regulation of genes associated with iron acquisition (tfr1a, tfa, steap3 and slc25a37) and heme biosynthesis and transport (alas2, fech, uros, urod, copx, ppox and abcb10) in congenitally asplenic zebrafish. In addition, the down-regulation of hemopoiesis–related GO terms, including heme binding, tetrapyrrole binding, iron ion binding, heme metabolic process, heme biosynthetic process, erythrocyte differentiation, iron ion homeostasis and hemoglobin metabolic process confirmed the impaired erythropoiesis induced by congenital asplenia. Our study provides an in-depth understanding of spleen function in regulating heme-iron homeostasis during hematopoiesis, thereby providing valuable insights into pathological responses in splenectomized or congenitally asplenic patients.

Do Children Less Than 3 Years with Sickle Cell Disease Need to be Routinely Admitted with Fever?

Background Due to functional asplenia, patients with sickle cell disease (SCD) are at increased risk of serious bacterial infection (SBI) with encapsulated organisms. With the advent of prophylactic penicillin, Haemophilus and Pneumococcal vaccination, this risk has decreased, though recommendations for admission in young children are not standardized and based on institutional practice. Historically, our standard at Benioff Children Hospital Oakland (CHO) has been to admit all children with SCD &amp;lt; 3 years with fever due to these historical concerns. We hypothesized that in a well appearing febrile cohort, the risk of complication would be very low (i.e., &amp;lt;3-5%), allowing liberalization of this stringent recommendation. Methods After IRB approval, we conducted a retrospective review of electronic medical records of children with SCD &amp;lt;3 years of age admitted with fever (i.e., ≥38.3ºC) from October 1 st, 2013 to May 30 th 2022 at CHO. We excluded patients who presented with fever and other complications in the emergency department (ED) that would have otherwise required admission including: 1) splenic sequestration; 2) acute chest syndrome (ACS); 3) hypoxia and/or respiratory distress; 4) vaso-occlusive crisis (VOC); 5) hemoglobin (Hb) drop ≥2 g/dL from baseline; 6) severe dehydration; 7) seizures or other neurological concerns; 8) complicated/complex medical history; 9) SARS-CoV-2 infection; 10) age &amp;lt;2 months; 11) soft tissue infection; and 12) UA concerning for infection. Results Sixty-four unique patients with 127 encounters were included with baseline features outlined in Table 1. Ninety-seven encounters were excluded due to presenting signs/symptoms. Rate of bacteremia was 1.6% (2 of 127). Twenty-six of the 127 encounters (20%, 21 unique patients) were deemed complicated, due to: 1) bacteremia (n=2); 2) splenic sequestration (n=6); 3) acute chest syndrome (n=1); 4) worsening anemia requiring transfusion (n=11); 5) pain crisis (n=1); 6) persistent fever (n=4) and 7) norovirus gastroenteritis (n=1). Eighty-five percent were in children 2 years or less. Complicated admissions were statistically longer and had lower hemoglobin and platelets at presentation than uncomplicated admissions (Table 2). There was no difference in age, white blood cell count (WBC) and maximum fever during presentation in the ED (Table 2). Fourteen of 26 complications (54%) occurred in the first two days of admission and the rest thereafter. Conclusions Although the rate of bacteremia was low as expected in children with SCD &amp;lt;3 years of age presenting to the ED with fever and without concerning presenting features, the overall rate of complications during admission for those encounters was much higher than our acceptable a priori threshold. Retrospectively, there were no easily discernible presenting features in this otherwise well-appearing cohort to determine need for admission. Complications often occurred beyond day 2 of admission. The majority of complications occurred in children ≤2 years of age; we therefore will continue to admit all children with SCD and fever ≤ 2 years of age with a low threshold for ongoing admission beyond the 48 hour rule out. Institutional standards must closely monitor for increased adverse events if utilizing more lenient ED discharge criteria in this population.

An asymptomatic double aortic arch with separate right vertebral artery and left subclavian artery originating from Kommerell Diverticulum combined with congenital asplenia and absence of celiac trunk.

This report describes the unique case of a completely patent Double Aortic Arch (DAA) combined with Kommerell Diverticulum (KD), absence of celiac trunk and congenital asplenia. The anatomical variants described were identified and assessed in a 51-year old female from a computed-tomography angiography (CTA) images with 3D-volume rendered reconstructions during her follow-up after hysterectomy. The reconstructed CTA images showed a DAA with the left common carotid artery stemming from the hypoplastic left aortic arch while the left subclavian artery originated from a KD in the descending thoracic aorta. A symmetric arrangement of the aortic arch branches was demonstrated, comprising a full vascular ring. Since the patient had been completely asymptomatic and with no symptoms of compression of the esophagus or trachea, no surgical management was advised. The abdomen CTA imaging revealed absence of the celiac trunk with direct origin of the common hepatic and the left gastric artery from the superior mesenteric artery as well as asplenia. We presented a case of asymptomatic DAA of completely patent arches with the right vertebral artery branching separately of and the left SCA originating from KD in the descending aorta. The term KD can be identified also in other arch anomalies than the one originally described. Since anatomical anomalies can be frequently combined, thorough imaging inspection with CTA of both thorax and abdomen is suggested.

Infection and Potential Challenge of Childhood Mortality in Sickle Cell Disease: A Comprehensive Review of the Literature from a Global Perspective

Sickle cell disease (SCD) is a complex genetic disorder associated with multiple clinical manifestations, including increased susceptibility to bacterial and viral infections. This review article presents a comprehensive analysis of the current literature obtained from various online databases focusing on the relationship between SCD and infections caused by specific pathogens, such as pneumonia- and influenza-causing pathogens, Escherichia coli, Staphylococcus aureus, parvovirus, and hepatitis viruses. We discuss the underlying mechanisms that contribute to the increased susceptibility of individuals with SCD to these infections, primarily related to the pathophysiology of variant hemoglobin (HbSS) and its impact on vascular occlusion, hemolysis, functional asplenia, and immune deficiency. Moreover, we highlight the significant burden of infections on SCD patients, particularly children under five years of age, where they are the leading cause of morbidity and mortality. Additionally, we address the challenges faced in attempts for reducing the global mortality rate associated with SCD, particularly in low-income countries, where factors such as increased pathogen exposure, co-morbidities like malnutrition, lower vaccination rates, and limited healthcare facilities contribute to the high disease burden. This review emphasizes the need for targeted interventions, improved healthcare access, vaccination programs, and infection prevention strategies to alleviate the impact of infections on individuals with SCD and reduce the global mortality rates associated with the disease.

Assessment of vaccination coverage in patients with functional or surgical asplenia: analysis of vaccination coverage for pneumococcus and influenza in the population of Azienda Sanitaria Universitaria Friuli Centrale

Assessment of vaccination coverage in patients with functional or surgical asplenia: analysis of vaccination coverage for pneumococcus and influenza in the population of Azienda Sanitaria Universitaria Friuli Centrale

Expert Perspectives on the Vaccination of Individuals Who Are at Increased Risk of Meningococcal Disease Due to Medical Conditions: A Podcast.

Patients with functional or anatomic asplenia, including sickle cell anemia; complement component deficiency; or human immunodeficiency virus (HIV) infection have a significantly increased risk of developing meningococcal disease. The Advisory Committee on Immunization Practices (ACIP) of the Centers for Disease Control and Prevention (CDC) recommends vaccination with a quadrivalent meningococcal conjugate vaccine against serogroupsA, C, W, and Y (MenACWY) for individuals 2months of age or older who are diagnosed with functional or anatomic asplenia, complement component deficiency, or HIV infection. Vaccination with a meningococcal vaccine against serogroupB (MenB) is also recommended for individuals 10years of age or older who are diagnosed with functional or anatomic asplenia or complement component deficiency. Despite these recommendations, recent studies have shown that vaccination coverage in these populations is low. In this podcast, the authors discuss the challenges for implementing vaccine recommendations for individuals with medical conditions at increased risk of developing meningococcal disease and discuss strategies to increase coverage. Suboptimal vaccination rates could be addressed by better educating healthcare providers about recommendations for MenACWY and MenB vaccines in individuals at increased risk, increasing awareness of low vaccination coverage, and tailoring the education to the needs of particular healthcare providers and their respective patient populations. Barriers to vaccination could also be removed by administering vaccines at alternative sites of care, bundling preventative services, and implementing vaccination reminder systems that are tied to immunization information systems.

Bacteremia in Subjects with Sickle Cell Disease: High Rate of Gram-Negative Isolates in the West African Context

Background: Sickle cell disease is one of the most common monogenic diseases in the world, affecting approximately 70 million people, 80% in sub-Saharan Africa and 1 in 10 in Senegal. Sickle cell anemia causes functional asplenia (associated with repeated thrombosis of splenic vessels), resulting in increased susceptibility to infection. However, several studies have reported differences in the spectrum of bacterial infections in malaria-endemic areas. Therefore, we proposed to conduct a study to determine the rate of positive blood cultures and the bacteriological spectrum in sickle cell patients. Materials and Method: This is a descriptive cross-sectional study of blood culture samples from patients who received a request for hemoglobin electrophoresis as part of their treatment at the Principal’s hospital in Dakar. The study took place from January 2008 to December 2021. For each patient, we collect demographic information, including age, gender, and the service from which the analysis request originated. Data were collected in the laboratory’s computer system and entered into Microsoft Excel (2007). Statistical analyzes were performed using Epi-Info 7 software. Results: Our study included 1419 patients. The most common types of hemoglobin profiles were: normal profile (n = 1025), AS profile (n = 283), SS profile (n = 104), SC profile (n = 7). This corresponds to the proportions of 72%, 20%, 0.5% and 7.5% for the profiles Normal, AS, SC and SS. The male proportion was 61.1%, 61.5%, 57.1, respectively %, 55.8% for Normal, SA, SC, and SS profiles. A total of 19,090 individual blood culture bottles were collected from 1419 impatient patients as follows: Normal profile (n = 18,042 bottles), AS profile (n = 677 culture bottles), SS profile (n = 362 bottles). The majority of blood culture orders come from pediatric services, accounting for 70% of the total number of orders. Of 19,090 vials examined in this current study, 19.6% developed a positive blood culture. Overall, the most commonly isolated bacteria were Staphylococci (41.1%), Enterobacteriaceae (36.7%), Bacillaceae (10.2%), unfermented (6.30%), Streptococci (5.01%), and a small proportion of yeast (0.75%). There is no significant difference in bacterial spectrum between the SS profile and the normal profile of individuals (p = 0.104). Coagulase-negative staphylococci accounted for 32%, 24%, and 40% of the species isolated in the normal AS and SS profiles. respectively. Coagulase-negative staphylococci were the most commonly isolated organisms in SS. Group E and sptagged streptococci each account for less than 2% of the organisms isolated in SS. Pneumococci were not found. Bacillus accounts for 25% of isolates in SS subjects compared to 9% in normal and AS subjects, respectively. Pseudomonas aeruginosa and Burkholderia cepacia then make up 10% of the isolates in the subjects of the SS profile as non-fermenters. Conclusion: Our study shows that enterobacteria and staph are prevalent in people with sickle cell disease. There is no significant difference in bacterial spectrum between SS subjects compared to subjects with a normal profile. The rarity of Streptococcus pneumoniae in bacteremia isolates underlines the need for further studies with larger patient numbers to better understand the spectrum of bacterial infections in patients with sickle cell disease in West Africa.

Immunogenetic losses co-occurred with seahorse male pregnancy and mutation in tlx1 accompanied functional asplenia.

In the highly derived syngnathid fishes (pipefishes, seadragons & seahorses), the evolution of sex-role reversed brooding behavior culminated in the seahorse lineage's male pregnancy, whose males feature a specialized brood pouch into which females deposit eggs during mating. Then, eggs are intimately engulfed by a placenta-like tissue that facilitates gas and nutrient exchange. As fathers immunologically tolerate allogenic embryos, it was suggested that male pregnancy co-evolved with specific immunological adaptations. Indeed, here we show that a specific amino-acid replacement in the tlx1 transcription factor is associated with seahorses' asplenia (loss of spleen, an organ central in the immune system), as confirmed by a CRISPR-Cas9 experiment using zebrafish. Comparative genomics across the syngnathid phylogeny revealed that the complexity of the immune system gene repertoire decreases as parental care intensity increases. The synchronous evolution of immunogenetic alterations and male pregnancy supports the notion that male pregnancy co-evolved with the immunological tolerance of the embryo.

Omicron-COVID-19 Manifestations in Sickle Cell Disease: A Brief Report

Background: Sickle cell disease (SCD) is an inherited red blood cell (RBC) disorder that is secondary to a single amino acid change in the beta-chain of the human hemoglobin protein. Patients with SCD suffer from a chronic hemolytic anemia, which can lead to recurrent vascular occlusion with pain crises, organ disfunction, early mortality, and increased risk of infection due to functional asplenia. The Omicron (B.1.1.529) variant, first described in South Africa in November 2021, was identified as a variant of concern due to more than 30 changes in the spike protein of the virus, as well as a sharp rise in the number of cases seen in South Africa. Previous data suggested that children with SCD were less likely to experience COVID-19 related severe illness and death compared to adults with SCD and adults without SCD. Methods: We present a retrospective cohort analysis of 20 patients aged 3-20 years old with SCD admitted due to SARS-CoV-2 infection in a single center institution in the Bronx, New York between December 19, 2021 and January 10, 2022 aligned with the Omicron spike in New York City. Bivariate analyses were performed using Stata software, version 17, to compare differences between SCD patients diagnosed with acute chest syndrome (ACS) and those without. Results: In SCD patients admitted due to risk of complications, there were no statistically significant differences between HbSS patients diagnosed with ACS and those without. Average CT values did demonstrate a borderline statistically significant difference with those with ACS having a higher burden of disease with a lower CT value (p=0.07) with those without, with HbSC patients having overall higher CT values and lower burden of disease. Rates of COVID-19 vaccination did not statistically significantly differ between groups but only 25% of HbSS patients diagnosed with ACS and 36% of those without ACS were vaccinated. A higher proportion of HbSC patients were vaccinated (67%). COVID-19 vaccination was offered to all patients who were not vaccinated. No patients developed thromboses of any kind, as had been common during previous surges. Conclusions: Our results demonstrate that the Omicron variant affected patients with SCD in different ways than seen previously. More patients required hospitalization for COVID-modifying therapy due to unvaccinated status than seen previously, confirming the need for continued vigilance for vaccination efforts. Table 1. Comparison of baseline characteristics and markers of COVID-19 disease severity in HbSS and HbSC patients with and without ACS in a single center cohort analysis (n=20). Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

P070: Design of the INSIGHT study, evaluation of long-term follow-up care for lymphoma survivors in the Netherlands: does survivorship care at the BETER clinics reduce morbidity and mortality from late effects of lymphoma treatment and associated costs?

Background: Hodgkin lymphoma (HL) survivors are at substantial risks of serious late adverse treatment effects. The BETER consortium developed a nationwide infrastructure of outpatient clinics where 5-year HL survivors are screened and treated for adverse effects of lymphoma treatment according to nationally approved screening guidelines. BETER survivorship care includes risk-based screening for and treatment of (risk factors for) cardiovascular disease (CVD), breast cancer, hypothyroidism and (functional) asplenia. So far, evidence for the actual cost-effectiveness of structured cancer survivorship care in clinical practice is lacking. Current knowledge is based on simulation and modelling approaches and evidence from other populations (e.g. BRCA mutation carriers). In the INSIGHT study we will assess the (cost-)effectiveness of BETER survivorship care using data from clinical practice. Methods: The first BETER clinics started in 2013–2016 and the number of centres participating in BETER is quickly expanding: several centres started/will start a BETER clinic in 2021–2024. This allows for a retrospective cohort study with a quasi-experimental design to evaluate the effectiveness of BETER survivorship care by comparing survivors who did and did not receive BETER survivorship care. Once full nationwide implementation is in place, this comparison is no longer possible. In the INSIGHT study we will compare 450 HL survivors invited for BETER survivorship care in 2013–2016 with 450 matched survivors invited by a BETER clinic starting in 2021–2024, allowing for a median follow-up of ~8 years. The primary outcomes are burden of disease (in disability-adjusted life-years, DALYs) from CVD, breast cancer, hypothyroidism and (functional) asplenia, associated health care costs, quality of life and health-related productivity losses. Secondary outcomes are BETER clinic attendance, guideline adherence and knowledge and risk perception of late effects. In a cost-effectiveness analysis we will calculate costs/DALY and costs/QALY of BETER survivorship care. Conclusion: BETER is an internationally unique initiative of an elaborate infrastructure for adult oncology survivorship care. To our knowledge, INSIGHT is the first evaluation of (cost-)effectiveness of cancer survivorship care in clinical practice. The results will contribute to more effective, evidence-based long-term cancer survivorship care. At ISHL12 we will present design details as well as participation rates.

THE TROJAN HORSE: A CASE OF HEMORRHAGIC PANCREATITIS

THE TROJAN HORSE: A CASE OF HEMORRHAGIC PANCREATITIS

A RARE CASE OF KIKUCHI-FUJIMOTO DISEASE IN THE SETTING OF ASPLENIA

A RARE CASE OF KIKUCHI-FUJIMOTO DISEASE IN THE SETTING OF ASPLENIA

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.

Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, pathogenic genetic lesions are found in less than 20% of HS patients. In this cohort study, whole-exome sequencing was performed for 110 patients with situs inversus or situs ambiguous. We identified a novel nonsense variant in PKD1L1(c.1387 C > T; p.463Gln*) in a Chinese patient with heterotaxy syndrome and congenital asplenia. This homozygous variant caused the domain of PKD1L1 complete absence. To our knowledge, this novel variant is the first phenotype of congenital asplenia found in patients with PKD1L1 variants, and the first PKD1L1 variant found in China. Our findings expand the spectrum of PKD1L1 variants and provide support for PKD1L1 variant and congenital asplenia, and the critical role of PKD1L1 during left-right patterning in the Han Chinese population.

28-Year-Old Man With Joint Pain

28-Year-Old Man With Joint Pain

Manifestations of Sickle Cell Disorder at Abdominal and Pelvic Imaging.

Sickle cell disorder (SCD) refers to a spectrum of hematologic disorders that cause a characteristic clinical syndrome affecting the entire body. It is the most prevalent monogenetic hemoglobinopathy worldwide, with a wide range of focal and systemic expressions. Hemoglobin gene mutation leads to the formation of abnormal sickle-shaped red blood cells, which cause vascular occlusion and result in tissue and organ ischemia and infarction. Recurrent episodes of acute illness lead to progressive multisystem organ damage and dysfunction. Vaso-occlusion, hemolysis, and infection as a result of functional asplenia are at the core of the disease manifestations. Imaging plays an essential role in the diagnosis and management of SCD-related complications in the abdomen and pelvis. A thorough understanding of the key imaging findings of SCD complications involving hepatobiliary, gastrointestinal, genitourinary, and musculoskeletal systems is crucial to timely recognition and accurate diagnosis. The authors aim to familiarize the radiologist with the SCD spectrum, focusing on the detection and evaluation of manifestations that may appear at imaging of the abdomen and pelvis. The topics the authors address include (a) the pathophysiology of the disease, (b) the placement of SCD among hemoglobinopathies, (c) the clinical presentation of SCD, (d) the role of imaging in the evaluation and diagnosis of patients with SCD who present with abdominal and pelvic manifestations in addition to extraperitoneal manifestations detectable at abdominal or pelvic imaging, (e) imaging features associated with common and uncommon sequelae of SCD in abdominal and pelvic imaging studies, and (f) a brief overview of management and treatment of patients with SCD. Online supplemental material is available for this article. ©RSNA, 2022.

Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.

Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than syndromic forms. The risk of severe bacterial infections associated with asplenia is the most concerning clinical implication and carries a significant mortality risk. Prophylactic measures against the clinical syndrome known as overwhelming postsplenectomy infections (OPSI) include vaccination, prophylactic and emergency antibiotics and health education including fever management and travel advice. This case series describes fourteen adults with congenital asplenia and polysplenia syndrome, most of whom were diagnosed incidentally as adults, and outlines the nature of their diagnosis, clinical phenotype, family history and key pathology findings.