To develop a scheme for distinguishing Kikuchi-Fujimoto disease (KFD) from lymphoma in patients presenting enlarged lymph nodes (LNs) predominantly on the upper side of the diaphragm. From November 2015 to August 2023, 32 KFD patients and 38 lymphoma patients were pathologically confirmed and enrolled in this retrospectively study. Clinical and 18F-fluorodeoxyglucose positron emission tomography (PET)/computed tomography (CT) features were collected. When comparing those PET/CT parameters, we set 5 models with different research objects: (1) all affected LNs; (2) the 5 largest affected LNs in terms of maximum diameter; (3) the 5 largest affected LNs in terms of maximum standard uptake values (SUVmax); (4) the largest affected LNs in terms of maximum diameter; (5) the largest affected LNs in terms of SUVmax. Compared to lymphoma patients, KFD patients were younger; and with higher incidence of fever, arthralgia, abnormal serum white blood cell, lactate dehydrogenase (LDH) and splenomegaly; lower incidence of affected LNs perinodal infiltration, necrosis and conglomeration; more affected LNs in Head and Neck nodes (particularly in level II) and Axillary in KFD (P ˂ .05). PET/CT parameters presented as various difference in each model. Finally, 11 clinical and PET/CT features (age ≤ 34, with fever, arthralgia, abnormal white blood cell, abnormal LDH, and without node necrosis and node conglomeration have a score of 2 each; splenomegaly, perinodal infiltration, median maximum diameter ≤ 20.5 and median SUVmax ≤ 7.1 of affected LNs in model 2 have score of 1 each) were selected as scheme items for distinguishing KFD from lymphoma. Individuals who have a total score > 8, meet the criteria for KFD. Sensitivity and specificity were high: 86.8% (95% CI: 71.9%, 95.5%) and 96.9% (95% CI: 83.7%, 99.5%), AUC = 0.975 (95% CI: 90.5%, 99.6%), respectively. It can effectively distinguish KFD from lymphoma by clinical and PET/CT parameters.

High-altitude polycythemia (HAPC) affects individuals living at high altitudes, characterized by increased red blood cells (RBCs) production in response to hypoxic conditions. The exact mechanisms behind HAPC are not fully understood. We utilized a mouse model exposed to hypobaric hypoxia (HH), replicating the environmental conditions experienced at 6000 m above sea level, coupled with in vitro analysis of primary splenic macrophages under 1% O2 to investigate these mechanisms. Our findings indicate that HH significantly boosts erythropoiesis, leading to erythrocytosis and splenic changes, including initial contraction to splenomegaly over 14 days. A notable decrease in red pulp macrophages (RPMs) in the spleen, essential for RBCs processing, was observed, correlating with increased iron release and signs of ferroptosis. Prolonged exposure to hypoxia further exacerbated these effects, mirrored in human peripheral blood mononuclear cells. Single-cell sequencing showed a marked reduction in macrophage populations, affecting the spleen\'s ability to clear RBCs and contributing to splenomegaly. Our findings suggest splenic ferroptosis contributes to decreased RPMs, affecting erythrophagocytosis and potentially fostering continuous RBCs production in HAPC. These insights could guide the development of targeted therapies for HAPC, emphasizing the importance of splenic macrophages in disease pathology.

Gaucher disease (GD) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the GBA1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. In China, GD is extremely uncommon and has a lower incidence rate than worldwide. In this study, we report the case of an adult male with an enlarged spleen for 13 years who presented with abdominal distension, severe loss of appetite and weight, reduction of the three-line due to hypersplenism, frequent nosebleeds, and bloody stools. Regrettably, the unexpected discovery of splenic pathology suggestive of splenic Gaucher disease was only made after a splenectomy due to a lack of knowledge about rare disorders. Our patient\'s delayed diagnosis may have been due to the department where he was originally treated, but it highlights the need for multidisciplinary consultation in splenomegaly of unknown etiology. We then investigated the patient\'s clinical phenotypes and gene mutation features using genetically phenotypical analysis. The analysis of the GBA1 gene sequence indicated that the patient carried a compound heterozygous mutation consisting of two potentially disease-causing mutations: c.907C > A (p. Leu303Ile) and c.1448 T > C (p. Leu483Pro). While previous research has linked the p. Leu483Pro mutation site to neurologic GD phenotypes (GD2 and GD3), the patients in this investigation were identified as having non-neuronopathic GD1. The other mutation, p. Leu303Ile, is a new GD-related mutation not indexed in PubMed that enriches the GBA1 gene mutation spectrum. Biosignature analysis has shown that both mutations alter the protein\'s three-dimensional structure, which may be a pathogenic mechanism for GD1 in this patient.

OBJECTIVE: To analyze the epidemiological characteristics of newly reported advanced schistosomiasis cases in Sichuan Province, so as to provide the evidence for analyzing the causes and formulating targeted control measures of newly reported advanced schistosomiasis cases.
METHODS: Individual case investigation forms for advanced schistosomiasis cases were collected from the Sichuan Provincial Epidemic Annual Report System from 2011 to 2022, and patients\' demographics, previous medical history and liver parenchymal grading were retrieved. All advanced schistosomiasis cases\' medical records were reviewed, and the subtypes of schistosomiasis-endemic villages where the cases\' household registration were, floating population, survival and death and time of death were collected.
RESULTS: A total of 321 newly reported advanced schistosomiasis cases were found in Sichuan Province from 2011 to 2022, with a male to female ratio of 0.99 to 1. There were 274 cases at ages of over 50 years (85.4%), with the highest proportion seen at ages of 60 to 69 years (87 cases, 27.1%), and splenomegaly was the most common type (180 cases, 56.1%), with no dwarfism type detected. The highest number of cases was reported in 2011 (78 cases), followed by in 2022 (74 cases), and the highest number of cases were reported in Meishan City (199 cases, 62.0%), Dongpo District (131 cases, 40.8%), and hilly subtype areas (136 cases, 42.4%). As of the end of 2022, there were 111 deaths due to advanced schistosomiasis, with the highest number of deaths seen in 2018 (25 deaths), and the highest mortality was seen among patients with the ascites type (41.2%). There were 47 (37.3%), 40 (59.5%) and 4 (23.5%) cases with grade III liver parenchyma among patients with splenomegaly, ascites, and colonic proliferation types, respectively, and there was a significant difference in the grading of III liver parenchyma among three types of patients (H = 12.092, P < 0.05), with more severe liver parenchyma injuries seen among patients with the ascites type than among those with splenomegaly and colonic proliferation type (Z = 24.262 and 44.738, both Padjusted values < 0.05).
CONCLUSIONS: There have been newly reported advanced schistosomiasis cases in Sichuan Province during recent years, and patients with the ascites type should be given a high priority among advanced schistosomiasis cases in Sichuan Province. Intensified clue surveys are needed for early identification and treatment of advanced schistosomiasis cases, so as to increase the survival rate and improve the quality of life.
［摘要］ 目的 分析四川省新报告晚期血吸虫病 (晚血) 病例流行病学和临床特征, 为分析新发晚血成因、制定有针对性 的防治措施提供依据。方法 收集2011—2022年四川省疫情年报系统中的晚血病例个案调查表, 获取病例个人基本信 息、既往病史、肝实质分级情况; 通过查阅晚血病例资料, 获取病例户籍所在流行村流行亚型、是否为流动人口、存活及死 亡情况、死亡时间等, 并进行描述性统计分析。结果 2011—2022年四川省累计新报告晚血病例共321例, 男女比例为 0.99:1; 274例 (85.4%) 年龄> 50岁, 以60~69岁组占比最高 (87例, 27.1%); 病例类型以巨脾型最多 (180例, 56.1%), 无侏 儒型病例; 2011年报告病例数最多 (78例), 其次为2022年 (74例)。2011—2022年报告晚血病例数最多的市 (州)、县 (区) 分别为眉山市 (199例, 62.0%) 和东坡区 (131例, 40.8%), 报告病例数最多的流行亚型为丘陵亚型地区 (136例, 42.4%)。截至2022年底, 321例晚血病例中有111例死亡, 其中2018年死亡人数最多 (25例), 腹水型病例死亡率最高 (41.2%)。巨脾型、腹水型、结肠增殖型病例中, 肝实质分级为Ⅲ级的病例数分别为47 (37.3%)、40 (59.5%)、4例 (23.5%), 3种类型晚血病例肝实质分级严重程度差异有统计学意义 (H = 12.092, P < 0.05), 腹水型晚血病例肝实质分级较巨脾型 和结肠增殖型病例严重 (Z = 24.262、44.738, P校正均< 0.05)。结论 近年来, 四川省每年仍有新报告晚血病例, 腹水型病 例是四川省晚血病例救治重点。应加强对重点人群的线索调查, 及早发现、治疗晚血病例, 提高其存活率和生命质量。.

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm with splenomegaly as the major clinical manifestation, which is commonly considered to be linked to splenic extramedullary hematopoiesis. Alteration of CXCL12/CXCR4 pathway can lead to the migration of hematopoietic stem cells and hematopoietic progenitor cells from bone marrow to spleen which results in splenic extramedullary hematopoiesis. In addition, low GATA1 expression and the abnormal secretion of cytokines were found to be significantly associated with splenomegaly. With the application of JAK1/2 inhibitors in clinical, the symptoms of splenomegaly have been significantly improved in PMF patients. This article will review the pathogenesis and targeted treatment progress of splenomegaly in PMF.
UNASSIGNED: 原发性骨髓纤维化脾肿大发生机制及靶向治疗进展.
UNASSIGNED: 原发性骨髓纤维化是一种骨髓增殖性肿瘤，脾肿大是其突出的临床特征，通常被认为与脾脏的髓外造血有关。CXCL12/CXCR4轴的异常可以导致造血干细胞和造血祖细胞从骨髓迁移到脾脏从而引起脾内髓外造血。此外，低GATA1表达和细胞因子异常分泌被发现与脾肿大显著相关。随着JAK1/2抑制剂在临床中的使用，原发性骨髓纤维化患者的脾大症状得到了显著改善。本文将对原发性骨髓纤维化脾肿大的发生机制及靶向治疗研究进展作一综述。.

OBJECTIVE: To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia (ET).
METHODS: The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed. According to driver mutation type, patients were divided into JAK2 group, CALR group and triple-negative group. The sex, age, cardiovascular risk factors, thrombosis, splenomegaly, routine blood test and coagulation status of patients in three groups were analyzed.
RESULTS: Among 69 ET patients, 46 cases were associated with JAK2 mutation, 14 cases with CALR mutation, 8 cases with triple-negative mutation, and one with MPL gene mutation. There were no significant differences in age and sex among the three groups (P >0.05). The highest thrombotic rate was 26.09% (12/46) in JAK2 group, then 12.5% (1/8) in triple-negative group, while no thrombotic events occurred in CALR group. The incidence of splenomegaly was the highest in JAK2 group (34.78%), while no splenomegaly occurred in triple-negative group. The white blood cell (WBC) count in JAK2 group was (9.00±4.86)×109/L, which was significantly higher than (6.03±2.32)×109/L in CALR group (P <0.05). The hemoglobin (Hb) and hematocrit (HCT) in JAK2 group were (148.42±18.79) g/L and (0.44±0.06)%, respectively, which were both significantly higher than (131.00±15.17) g/L and (0.39±0.05)% in triple-negative group (P <0.05). The platelet (PLT) in JAK2 group was (584.17±175.77)×109/L, which was significantly lower than (703.07±225.60)×109/L in CALR group (P <0.05). The fibrinogen (Fg) in JAK2 and triple-negative group were (2.64±0.69) g/L and (3.05±0.77) g/L, respectively, which were both significantly higher than (2.24±0.47) g/L in CALR group (P <0.05, P <0.01). The activated partial thromboplastin time (APTT) in triple-negative group was (28.61±1.99) s, which was significantly decreased compared with (31.45±3.35) s in CALR group (P <0.05).
CONCLUSIONS: There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations. Among ET patients, JAK2 mutation is most common. Compared with CALR group, the thrombotic rate, WBC and Fg significantly increase in JAK2 group, while PLT decrease. Compared with triple-negative group, the incidence of splenomegaly and HCT significantly increase. Compared with CALR group, Fg significantly increases but APTT decreases in triple-negative group.
UNASSIGNED: 原发性血小板增多症患者中JAK2、CALR及三阴性驱动突变的临床特征比较.
UNASSIGNED: 探讨原发性血小板增多症（ET）患者的突变基因与临床特征的关系。.
UNASSIGNED: 对2018年10月至2022年3月69例ET患者的临床资料进行回顾性分析。将患者按突变的驱动基因类型分为JAK2组、CALR组与三阴性组，对3组患者的性别、年龄、心血管危险因素、血栓、脾肿大、血常规、凝血状态进行分析。.
UNASSIGNED: 69例ET患者中，46例伴随JAK2基因突变，14例伴随CALR基因突变，8例为三阴性，1例伴随MPL基因突变。3组患者的年龄、性别无显著差异（P >0.05）。JAK2组血栓率最高，为26.09%（12/46），三阴性组为12.5%（1/8），CALR组无血栓事件。JAK2组伴随脾肿大发生率最高，为34.78%（16/46），而三阴性组无脾肿大发生。JAK2组的白细胞数为（9.00±4.86）×109/L，显著高于CALR组的（6.03±2.32）×109/L（P <0.05）。JAK2组的血红蛋白含量为（148.43±18.79）g/L，显著高于三阴性组的（131.00±15.17）g/L（P <0.05）。JAK2组的红细胞压积为（0.44±0.06）%，亦显著高于三阴性组的（0.39±0.05）%（P <0.05）。JAK2组血小板数为（584.17±175.77）×109/L，显著低于CALR组的（703.07±225.60）×109/L（P <0.05）。JAK2组和三阴性组纤维蛋白原含量分别为（2.64±0.69）g/L和（3.05±0.77）g/L，均显著高于CALR组的（2.24±0.47）g/L（P <0.05，P <0.01）。三阴性组活化部分凝血活酶时间为（28.61±1.99）s，较CALR组的（31.45±3.35）s显著降低（P <0.05）。.
UNASSIGNED: 不同驱动基因突变ET患者的血细胞计数与凝血状态存在差异。与CALR组相比，JAK2组血栓率、白细胞数和纤维蛋白原含量均显著升高，而血小板数显著降低；与三阴性组相比，JAK2组脾大发生率和红细胞压积显著升高；与CALR组相比，三阴性组的纤维蛋白原含量显著升高、活化部分凝血活酶时间显著降低。.

UNASSIGNED: The spleen is a frequent organ of leukemia metastasis. This study aimed to investigate the value of intravoxel incoherent motion (IVIM) diffusion-weighted magnetic resonance imaging (MRI) for assessing pathologic changes in the spleen and identifying early spleen involvement in patients with acute leukemia (AL).
UNASSIGNED: Patients with newly diagnosed AL and healthy controls were recruited between June 2020 and November 2022. All participants underwent abdominal IVIM diffusion-weighted imaging (DWI) at our hospital. IVIM parameters [pure diffusion coefficient (D); pseudo-diffusion coefficient (D*); and pseudo-perfusion fraction (f)] of the spleen were calculated by the segmented fitting method, and perfusion-diffusion ratio (PDR) was further calculated from the values of D, D* and f. Spleen volumes (SVs) were obtained by manually segmenting the spleen layer by layer. Clinical biomarkers of AL patients were collected. Patients were divided into splenomegaly group and normal SV group according to the individualized reference intervals for SV. IVIM parameters were compared among the control group, AL with normal SV group, and AL with splenomegaly group using one-way analysis of variance, followed by pairwise post hoc comparisons. The correlations of IVIM parameters with clinical biomarkers were analyzed in AL patients. The diagnostic performances of IVIM parameters and their combinations for differentiating among the three groups were compared.
UNASSIGNED: Seventy-nine AL patients (AL with splenomegaly: n=54; AL with normal SV: n=25) and 55 healthy controls were evaluated. IVIM parameters were significantly different among the three groups (P<0.001 for D, D* and f; P=0.001 for PDR). D and PDR showed significant differences between the control and AL with normal SV groups in pairwise comparisons (P<0.001, and P=0.031, respectively). D was correlated with white blood cell (WBC) counts (r=-0.424; 95% CI: -0.570, -0.211; P<0.001), lactate dehydrogenase (LDH) (r=-0.285; 95% CI: -0.486, -0.011; P=0.011), and bone marrow blasts (r=-0.283; 95% CI: -0.476, -0.067; P=0.012). D* (r=-0.276; 95% CI: -0.470, -0.025; P=0.014), f (r=0.514; 95% CI: 0.342, 0.664; P<0.001) and PDR (r=0.343; 95% CI: 0.208, 0.549; P=0.002) were correlated with LDH. The combination of IVIM parameters (AUC: 0.830; 95% CI: 0.729, 0.905) demonstrated better diagnostic efficacy than the single D* (AUC: 0.721; 95% CI: 0.608, 0.816; Delong test: Z=2.012, P=0.044) and f (AUC: 0.647; 95% CI: 0.532, 0.752; Delong test: Z=2.829, P=0.005), but was not significantly different from the single D (AUC: 0.756; 95% CI: 0.647, 0.846; Delong test: Z=1.676, P=0.094) in differentiating the splenomegaly group and normal SV group.
UNASSIGNED: IVIM diffusion-weighted MRI could be a potential alternative for assessing pathologic changes in the spleen from cellularity and angiogenesis, and D and PDR may be viable indicators to identify early spleen involvement in patients with AL.

Caroli disease is a rare congenital malformation that predisposes to segmental cystic dilatation of the intrahepatic bile ducts. Banti syndrome is characterized by persistent splenomegaly due to chronic congestion, resulting in a low hematocrit and ultimately leading to pancytopenia. In this report, we describe a 29-year-old woman who presented with a >20-year history of hepatitis B surface antigen positivity and a >1-year history of recurrent fatigue and malaise. On examination, the patient had abdominal distension with marked splenomegaly (7 cm below the ribs) and ascites with tenderness of the abdominal muscles to palpation. A complete blood count showed a low white blood cell count, red blood cell count, and hemoglobin concentration. During the course of treatment, the patient developed multiple symptoms of pancytopenia and concomitant splenomegaly, and she was discharged after total splenectomy with good recovery. The combination of Banti syndrome and Caroli disease results in severe symptoms of portal hypertension.

Gaucher disease is a rare, autosomal recessive disorder caused by inborn errors of metabolism. Globally, more than 27 million people are born each year, and approximately 19,000 neonates are born with lysosomal storage disease. We report a rare case of Gaucher disease in an adult female patient of non-consanguineous parents in a subtropical area of Jiangxi Province, China. This area has a high prevalence of schistosomiasis. The diagnosis of this case posed a great challenge because of the possible differential diagnoses of pancytopenia with hepatomegaly and giant splenomegaly. The key component of the patient\'s diagnosis was her medical history in which it was documented that her brother had died of hepatocellular carcinoma of unknown origin. We diagnosed the patient through a combination of a pathological biopsy and imaging plus the patient\'s medical history.

BACKGROUND: Our study aimed to analyze the characteristics of ultrasound images corresponding to each histological stage of primary biliary cholangitis (PBC).
METHODS: We prospectively analyzed 75 confirmed cases of PBC and used liver biopsy as the gold standard to determine the disease stage.
RESULTS: The typical ultrasound images of patients with PBC were characterized by a thickening of the portal vein wall (PVW) and periportal hypoechoic band (PHB) width with increasing histological stages, and significant increases in the left hepatic lobe diameter (LHLD) in stage II (by 64.0%) and stage III (by 69.2%). PHB width (r = 0.857, p < 0.001), PVW thickness (r = 0.488, p < 0.001), and spleen area (r = 0.8774, p < 0.001) were positively correlated with the histological stage. Significant changes were noted in the liver surface, echo texture, and edge between different stages. The areas under the receiver operating characteristic curve of composite indicators were 0.965 for predicting progressive PBC(≥ stage 2), and 0.926 for predicting advanced PBC(≥ stage 3).
CONCLUSIONS: The ultrasound imaging characteristics of patients with PBC varied according to the histological staging. LHLD, PVW thickness, and PHB width were significantly correlated with the histological stage. A combination of high- and low-frequency ultrasound imaging can provide relevant cues regarding the degree of PBC progression and important clinical reference values. The application of all the ultrasound image findings as the composite indicators can better predict progressive and advanced PBC, providing important clinical reference values.