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Frontiers in Immunology 2023Elective splenectomy is the main treatment for a wide range of haematological diseases. Porto-spleno-mesenteric venous thrombosis represents one of the most severe...
BACKGROUND
Elective splenectomy is the main treatment for a wide range of haematological diseases. Porto-spleno-mesenteric venous thrombosis represents one of the most severe complications of this procedure. The aim of this study was to evaluate risk factors associated with development of porto-spleno-mesenteric venous thrombosis after elective splenectomy.
METHODS
All cases of elective splenectomy carried out from April 1 2017 to January 31 2023 were included in this single centre retrospective cohort study. Patients' demographics and perioperative data were analysed and correlated with the incidence of postoperative thrombosis. All patients underwent postoperative doppler ultrasound screening for thrombosis. Analysis was performed using SPSS 28, with p-value < 0.05 considered significant.
RESULTS
Twenty-two patients (10 women, 12 men) underwent splenectomy during the study period. Indications were: immune thrombocytopenia (n: 6), myeloproliferative disorder (n: 6), hereditary spherocytosis (n: 4), thalassemia (n: 1), lymphoma (n: 1), leukaemia (n: 1), other malignancies (n: 3). Six patients developed porto-spleno-mesenteric venous thrombosis and only 2 of them were symptomatic. Patients were treated with anticoagulation therapy with complete resolution. Analysis identified three main factors associated with thrombosis: spleen diameter (p = 0.03), myeloproliferative disorder (p = 0.02), intraoperative platelet transfusion (p = 0.002) and intraoperative red blood cells transfusion (p = 0.009).
CONCLUSION
Standardized postoperative screening allows prompt diagnosis and treatment of porto-spleno-mesenteric venous thrombosis even in asymptomatic cases. Patient with splenomegaly and affected by myeloproliferative disorder have a greater risk to develop this complication.
Topics: Male; Humans; Female; Spleen; Splenectomy; Retrospective Studies; Venous Thrombosis; Thrombosis; Myeloproliferative Disorders
PubMed: 37928557
DOI: 10.3389/fimmu.2023.1216283 -
Frontiers in Pediatrics 2023Hereditary Spherocytosis (HS) is a rare, congenital red blood cell disorder presenting with variable clinical manifestations ranging from mild hemolytic anemia to severe...
Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks.
BACKGROUND
Hereditary Spherocytosis (HS) is a rare, congenital red blood cell disorder presenting with variable clinical manifestations ranging from mild hemolytic anemia to severe anemia with hypersplenism and hepatobiliary complications.
METHODS
The objectives of the study were to evaluate the diagnostic pathway of HS, the presence and management of hepatobiliary complications in pediatric patients with HS followed in a tertiary care center. The demographic, clinical, hematological information were retrieved from medical records of patients having at least 1 hematology visit between 2010 and 2020.
RESULTS
Forty-two patients were enrolled, 23 M. Mean age at onset of symptoms was 2.8 years, at diagnosis was 3.5 years. Anemia was the first manifestation in 73%; suspect of HS arose for all patients in first or second level outpatient clinics. Only 64% of patients performed two confirmation tests in the reference center. 28/42 had familiarity for HS; of the 13/42 who did not, only 47% performed further analysis. Sixteen patients developed gallbladder stones (40%), visible at the first ultrasound (5.6 years). Hemolytic crises and parvovirus infections were more frequent in patients with stones (53.6% vs. 26.1% and 63.6% vs. 28.6%, respectively). 10/16 (62.5%) underwent elective cholecystectomy: 8 had concomitant splenectomy.
CONCLUSIONS
our study highlights the need to optimize the diagnostic pathway in networks of care involving general and specialized centers in order to reduce time to diagnosis and ensure that all patients receive confirmatory tests. A high frequency of hepatobiliary complications since young age was observed suggesting that screening with ultrasound should begin earlier.
PubMed: 37886235
DOI: 10.3389/fped.2023.1269645 -
Molecular Imaging and Radionuclide... Oct 2023A 7-year-old boy with known diagnosis of hereditary spherocytosis and ulcerative colitis was referred for F-fluorodeoxyglucose (F-FDG) positron emission...
A 7-year-old boy with known diagnosis of hereditary spherocytosis and ulcerative colitis was referred for F-fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography after detection of a 28 mm lesion suspicious for malignancy in spleen on upper abdomen magnetic resonance imaging (MRI). As an incidental finding, a moderately increased uptake of F-FDG was observed in periportal region with no definable mass. MRI revealed compatible findings with "periportal cuffing" as described on ultrasonography.
PubMed: 37870391
DOI: 10.4274/mirt.galenos.2023.53254 -
Frontiers in Genetics 2023Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced...
Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes (Spherocytosis, type 1; MIM#182900), (Spherocytosis, type 2; MIM#616649), (Spherocytosis, type 3; MIM#270970), (Spherocytosis, type 4; MIM#612653) and (Spherocytosis, type 5; MIM#612690) have been confirmed to be related to HS. There have been many studies on the pathogenic variants and mechanisms of HS, however, studies on how to manage the transmission of HS to the next-generation have not been reported. In this study, we recruited a patient with HS. Targeted next-generation sequencing with a panel of 208 genes related to blood system diseases detected a novel heterozygous variant in the : c.300+2dup in the proband. Sanger sequencing of variant alleles and haplotype linkage analysis of single nucleotide polymorphism (SNP) based on next-generation sequencing were performed simultaneously. Five embryos were identified with one heterozygous and four not carrying the variant. Single-cell amplification and whole genome sequencing showed that three embryos had varying degrees of trisomy mosaicism. One of two normal embryos was transferred to the proband. Ultimately, a healthy boy was born, confirmed by noninvasive prenatal testing for monogenic conditions (NIPT-M) to be disease-free. This confirmed our successful application of PGT in preventing transmission of the pathogenic variant allele in the HS family.
PubMed: 37795245
DOI: 10.3389/fgene.2023.1221853 -
Cureus Aug 2023Introduction The utilization of robot-assisted technique for splenectomy has recently gained popularity especially in patients undergoing splenectomy for hematological...
Introduction The utilization of robot-assisted technique for splenectomy has recently gained popularity especially in patients undergoing splenectomy for hematological indications owing to its magnification of and easy manipulation of internal abdominal organs. Moreover, robotic splenectomy emerged as an essential teaching module before approaching more complex robotic procedures. Methods A total of 43 elective splenectomies were performed for hematological indications in Department of Surgical Gastroenterology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) between January 2018 to July 2023 of which 14 patients underwent robotic splenectomy. All patients underwent lateral approach of robotic splenectomy with a modification of avoiding the lesser sac dissection. Prospectively maintained data were retrospectively analyzed and results were recorded in terms of intra-operative time taken, blood loss, need for blood and blood product transfusion and postoperative morbidity and mortality. Results The indications for patients who underwent robotic splenectomy include idiopathic thrombocytopenic purpura in eight patients, autoimmune hemolytic anemia in three patients, Evans syndrome in one patient and hereditary spherocytosis in two patients. The median splenic diameter was 14.8cm and the median platelet count before the operation was 10,800 cells/cubic millimeter (7000-3,20,000). The mean operative time was 92 minutes and blood loss was 40ml. The median duration of hospital stay was 2.4 days. All 14 patients had therapeutic success and there was no procedure-related mortality or morbidity. Conclusion Robotic splenectomy using the modified lateral approach can safely be performed with comparable operative time, blood loss and overall morbidity. However further studies are mandatory to confirm the advantage of this modified technique of lateral approach of robotic splenectomy.
PubMed: 37736466
DOI: 10.7759/cureus.43820 -
JCI Insight Oct 2023Hereditary spherocytosis (HS) is the most common, nonimmune, hereditary, chronic hemolytic anemia after hemoglobinopathies. The genetic defects in membrane function...
Hereditary spherocytosis (HS) is the most common, nonimmune, hereditary, chronic hemolytic anemia after hemoglobinopathies. The genetic defects in membrane function causing HS lead to perturbation of the RBC metabolome, with altered glycolysis. In mice genetically lacking protein 4.2 (4.2-/-; Epb42), a murine model of HS, we showed increased expression of pyruvate kinase (PK) isoforms in whole and fractioned RBCs in conjunction with abnormalities in the glycolytic pathway and in the glutathione (GSH) system. Mitapivat, a PK activator, metabolically reprogrammed 4.2-/- mouse RBCs with amelioration of glycolysis and the GSH cycle. This resulted in improved osmotic fragility, reduced phosphatidylserine positivity, amelioration of RBC cation content, reduction of Na/K/Cl cotransport and Na/H-exchange overactivation, and decrease in erythroid vesicles release in vitro. Mitapivat treatment significantly decreased erythrophagocytosis and beneficially affected iron homeostasis. In mild-to-moderate HS, the beneficial effect of splenectomy is still controversial. Here, we showed that splenectomy improves anemia in 4.2-/- mice and that mitapivat is noninferior to splenectomy. An additional benefit of mitapivat treatment was lower expression of markers of inflammatory vasculopathy in 4.2-/- mice with or without splenectomy, indicating a multisystemic action of mitapivat. These findings support the notion that mitapivat treatment should be considered for symptomatic HS.
Topics: Animals; Mice; Disease Models, Animal; Spherocytosis, Hereditary; Erythrocytes; Anemia, Hemolytic
PubMed: 37676741
DOI: 10.1172/jci.insight.172656 -
Clinica Chimica Acta; International... Aug 2023Osmotic gradient ektacytometry is an important method for diagnosis of red blood cell membrane disorders. For interpretation of the osmoscan parameters on the...
BACKGROUND AND AIMS
Osmotic gradient ektacytometry is an important method for diagnosis of red blood cell membrane disorders. For interpretation of the osmoscan parameters on the ektacytomety, an age-matched control sample drawn at the same time is recommended for direct comparison. However, this can be challenging for laboratories to fulfil, especially when ektacytometry is performed in children. Therefore, the aim of this study was to evaluate the influence of age and sex on the osmoscan parameters.
MATERIALS AND METHODS
Blood samples from 231 subjects were analyses on a LoRRca MaxSIS. Data were investigated for need of partitioning by age and sex. After outlier detection, reference intervals (RIs) for osmoscan parameters were estimated.
RESULTS
For all parameters except EImin, lower values were observed in infants < 3 month (N = 50) than in all other age group. Hence, RIs were calculated separately for this age group. For EImin, a unified RI was calculated. No difference between sexes was observed for any of the parameters.
CONCLUSION
Lower RIs and a left shift in the osmoscan curves were observed in infants < 3 months compared with older subjects. Hence, age-matched controls are necessary when evaluating ektacytometry in newborns, but can be ignored in older children and adults. This will ease the laboratory workflow when performing ektacytometry.
Topics: Infant, Newborn; Adult; Child; Infant; Humans; Osmosis; Erythrocyte Membrane; Laboratories; Workflow
PubMed: 37659465
DOI: 10.1016/j.cca.2023.117532 -
Veterinary Sciences Jun 2023The immunodiagnostic assessment of dogs suspected of having immune-mediated hemolytic anemia (IMHA) is based on persistent autoagglutination of erythrocytes (after three...
The Indirect Antiglobulin (Coombs') Test Is Specific but Less Sensitive Than the Direct Antiglobulin Test for Detecting Anti-Erythrocytic Autoantibodies and Thereby Immune-Mediated Hemolytic Anemia in Dogs.
The immunodiagnostic assessment of dogs suspected of having immune-mediated hemolytic anemia (IMHA) is based on persistent autoagglutination of erythrocytes (after three saline washes), marked spherocytosis, and a positive direct antiglobulin (Coombs') test (DAT). However, the value of using the indirect antiglobulin test (IAT) for the detection of anti-erythrocytic autoantibodies in serum from dogs suspected of having IMHA is unclear. To evaluate the IAT, leftover serum samples from a large cohort of 94 dogs suspected of having IMHA and for which DAT results were known were incubated with DAT- erythrocytes, and five IAT techniques were performed (in part with different reagents and temperatures): microtiter plate (MICRO), microcapillary, laboratory gel column, gel minitube kit (GEL KIT), and immunochromatographic strip kit. Two IAT techniques (MICRO at 37 °C and GEL KIT with rabbit anti-dog polyvalent reagent) detected autoantibodies against erythrocytes in serum from 53% and 57% of DAT+ dogs, respectively, while other IATs performed less well. Moreover, while the analytic specificity of the IAT methods compared to the DAT ranged from 96-100%, the sensitivity range was only 9-57%. Thus, we still recommend DAT for diagnosis and monitoring of IMHA in dogs but conclude that a positive IAT result may aid diagnostically when serum is available, but fresh red blood cells are not.
PubMed: 37505821
DOI: 10.3390/vetsci10070415 -
JPMA. the Journal of the Pakistan... Apr 2023To evaluate Hem-o-Lok polymer clips' feasibility, safety and cost-effectiveness in controlling the splenic pedicle during paediatric laparoscopic splenectomy.
OBJECTIVES
To evaluate Hem-o-Lok polymer clips' feasibility, safety and cost-effectiveness in controlling the splenic pedicle during paediatric laparoscopic splenectomy.
METHOD
The prospective study was conducted from May 2019 to December 2021 at Kafrelsheikh University Hospital, Egypt, and comprised children of either gender aged <18 years who had benign haematological diseases and were indicated for laparoscopic splenectomy. During the procedure, Hem-o-Lok clips were used for controlling the splenic pedicle. Patients were encouraged to ambulate the same day, and the drain was removed 24hours postoperatively. The cases were followed up for three months postoperatively.
RESULTS
Of the 23 subjects, 11(47.8%) were boys and 12(52.2%) were girls. The overall mean age was 8.74±3.44 years (range: 4-15 years). There were 6(26%) cases of spherocytosis, 1(4.3%) immune thrombocytopenic purpura and 16(69.6%) with thalassemia major. The mean operative time was 93.43±29.87 minutes(range: 65-180 minutes). There was no conversion to open splenectomy and no mortality. There were 2(8.7%) cases of minor and 1(4.3%) of major intraoperative bleeding. All the 3(100%) cases were controlled laparoscopically. No postoperative bleeding occurred and no cases required postoperative blood transfusion.
CONCLUSIONS
Controlling both the splenic artery and vein using Hem-o-Lok clips was found to be feasible, safe and cost-effective.
Topics: Male; Female; Humans; Child; Child, Preschool; Splenectomy; Prospective Studies; Spleen; Laparoscopy; Postoperative Hemorrhage
PubMed: 37482863
DOI: 10.47391/JPMA.EGY-S4-45 -
Indian Journal of Nephrology 2023In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was...
In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for c.2573C>A (p.Ala858Asp). Distal renal tubular acidosis (dRTA) can be caused by mutations in , which encodes the Cl/HCO exchanger of the renal type A intercalated cell, kidney AE1. variants have been reported in dRTA patients from North America, Europe, and Southeast Asia. In some rare instances, dRTA can present with hemolytic anemia resulting in marked anemia that is not responsive to standard interventions. This report identifies an autosomal recessive inheritance pattern for variants in a patient presenting with dRTA and hemolytic anemia.
PubMed: 37448902
DOI: 10.4103/ijn.ijn_210_21