Primary myelofibrosis (PMF) is easily confused with cirrhosis, due to its main clinical manifestations of splenomegaly and the blood cytopenia. This review focuses on clinical studies to identify primary myelofibrosis and cirrhosis related portal hypertension, to analyze the differences between the two diseases, in order to distinguish PMF and cirrhosis from the pathogenesis, clinical manifestations, laboratory examinations and treatment principles, and simultaneously improve clinicians' understanding of PMF, which is a reference for exploring the early screening or diagnostic indicators of PMF, also provides a clinical basis for the application of new targeted drugs such as ruxolitinib.
Humans ; Primary Myelofibrosis/drug therapy* ; Hypertension, Portal/complications* ; Liver Cirrhosis/pathology* ; Splenomegaly/pathology* ; Anemia

Hemophagocytic lymphohistiocytosis (HLH) was a life-threatening syndrome due to the uncontrolled immune activation of cytotoxic T lymphocytes, natural killer (NK) cells, and macrophages. HLH is characterized by primary and secondary causes, the early diagnosis and treatment of patients are closely related to the prognosis and clinical outcome of patients. The clinical presentation is variable but mostly includes prolonged fever, splenomegaly, coagulopathy, hypertriglyceridemia, and hemophagocytosis, none of them is specific and particular for HLH. Tuberculosis (TB) infection is one of the causes of HLH. HLH caused by TB is very rare clinically, but it has a high mortality. For patients with fever of unknown origin, HLH-related clinical manifestations sometimes present before the final diagnosis of TB, and HLH is associated with the most significant mortality rate. This article is mainly about a 28-year-old patient with HLH who suffered from severe TB infection. The patient attended a hospital with a history of 2 months of prolonged fever, 10 days booger and subcutaneous hemorrhage in lower limbs. Before this, he was in good health and denied any history of tuberculosis exposure. Combined with relevant laboratory test results (such as splenomegaly, hemoglobin, platelet count, and hypertriglyceridemia) and clinical manifestations (e.g. fever), the patient was diagnosed with hemophagocytic lymphohistiocytosis, but the etiology of HLH remained to be determined. To confirm the etiology, the patient was asked about the relevant medical history (intermittent low back pain) and was performed chest CT scan, bone marrow biopsy, and fundus photography. Finally, he was diagnosed with hemophagocytic lymphohistiocytosis caused by hematogenous disseminated pulmonary tuberculosis. In response to this, intravenous methylprednisolone and anti-tuberculosis treatment (isoniazid, pyrazinamide, moxifloxacin, and amikacin) were administered to the patient. After more than a month of treatment, the patient recovered from HLH caused by severe TB infection. Therefore, this case suggests that we should be vigilant to the patient who admitted to the hospital with fever for unknown reasons, to diagnose HLH as early as possible and clarify its cause, then perform interventions and treatment, especially HLH secondary to tuberculosis. Also, cases of atypical TB and severe TB should be carefully monitored to achieve early diagnosis and early intervention.
Male ; Humans ; Adult ; Lymphohistiocytosis, Hemophagocytic/diagnosis* ; Splenomegaly ; Tuberculosis, Pulmonary/diagnosis* ; Bone Marrow/pathology* ; Fever/etiology* ; Hypertriglyceridemia/complications*

Only 5th decade ago, chronic lymphocytic leukemia (CLL) was only recognized as disease group of presenting features like peripheral lymphocytosis, organomegaly including of splenomegaly. As understanding of disease biology and molecular diagnostic tools are getting improved gradually, characterization of variation in CLL's clinical courses was facilitated, resulting in better risk stratification and targeted treatments. Consequently multiple new targeted agents have been used in treatment of CLL, it makes improved clinical outcome. Rituximab containing chemoimmunotherapy (combination of rituximab, fludarabine, and cyclophosphamide) have shown better overall response rate and progression-free survival on fit patients' group in front-line setting, result in standard first-line therapeutic option for CLL. Furthermore, after introducing that the B-cell receptor is crucial for the evolution and progression of CLL, emerging treatments targeting highly activated surface antigens and oncogenic signaling pathways have been associated with several successes in recent decades. These include new anti-CD 20 monoclonal antibody (obinutuzumab), the bruton tyrosine kinase inhibitor (ibrutinib), the phosphatidylinositol 3-kinase inhibitor (idelalisib), and B-cell CLL/lymphoma 2 inhibitor (ABT-199 and ABT-263). So, we discuss not only general pathophysiology of CLL, but also rapidly advancing treatment strategies that are being studied or approved for treatment of CLL.
Antigens, Surface ; B-Lymphocytes ; Biology ; Cohort Studies* ; Disease-Free Survival ; Incidence ; Investigational New Drug Application ; Leukemia, Lymphocytic, Chronic, B-Cell* ; Lymphocytosis ; Pathology, Molecular ; Phosphatidylinositol 3-Kinase ; Protein-Tyrosine Kinases ; Splenomegaly

Plasma cell leukemia (PCL) is an aggressive form of multiple myeloma where there is hematogenous spread of abnormal plasma cells into the periphery. This is opposed to multiple myeloma, where the abnormal plasma cells stay in the bone marrow. PCL is more common in males than females, and is also more common in African-Americans than Caucasians. Signs and symptoms of PCL include, but are not limited to, renal insufficiency, hypercalcemia, anemia, lytic bone lesions, thrombocytopenia, hepatomegaly, and splenomegaly. Here, we discussed a case of a 71-year-old Caucasian female recently diagnosed with primary PCL with radiographic features of this disease throughout the body, with an emphasis on the maxillofacial skeleton and relevance from a dental standpoint.
Aged ; Anemia ; Bone Marrow ; Female ; Hepatomegaly ; Humans ; Hypercalcemia ; Leukemia, Plasma Cell* ; Male ; Maxilla* ; Multiple Myeloma ; Pathology ; Plasma Cells* ; Plasma* ; Renal Insufficiency ; Skeleton ; Splenomegaly ; Thrombocytopenia

Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this condition. In the present report, we describe the case of a patient diagnosed with HLH, in whom the brain pathology, but not the bone marrow pathology, showed hemophagocytosis. As the diagnosis of HLH is difficult in many cases, a high level of suspicion is required. Moreover, the pathologic diagnosis of organs other than the bone marrow, liver, and lymph nodes may be a useful alternative.
Biopsy* ; Bone Marrow ; Brain Diseases ; Brain* ; Central Nervous System ; Cerebrospinal Fluid ; Diagnosis ; Fever ; Humans ; Jaundice ; Leukocytosis ; Liver ; Lymph Nodes ; Lymphohistiocytosis, Hemophagocytic* ; Pathology ; Splenomegaly

OBJECTIVETo present six cases of Brucella infection in children, analyze the characteristics of the disease, diagnostic and therapeutic process.

METHODThe clinical manifestations, laboratory test results and diagnostic process of 6 confirmed cases of brucellosis seen between 2011-2012 were retrospectively analyzed and domestic and foreign literature was reviewed.

RESULTAll the 6 children had a history of either exposure to, travelling to endemic area, or consuming infected lamb/beef. After the relevant examinations for these children, either positive etiologic or serologic evidence of brucellosis infection was obtained. The main clinical manifestation was fever in all cases, the peak body temperature was 37.5-38.0 °C in 3 cases, 38.1-39.0 °C in 2 cases, 39.1-41 °C in 1 case. Except for 1 case whose fever type was undulant fever, all the rest had irregular fever.Joint pain existed in 3 cases, orchitis in 1 case, cervical lymphadenopathy in 3 cases, hepatosplenomegaly in 2 cases, and impaired liver function in 4 cases. The Brucella agglutination test was positive in 5 cases. The blood culture was positive for all cases. In 4 cases the sulfamethoxazle and rifampicin were used for treatment, 1 case was treated with rifampicin and erythromycin, parents of 1 case refused to use the drug. The "brucellosis in children" was used to search literature at Wanfang database, Pubmed database for literature of recent 10 years, and a total of 13 articles including 15 cases were retrieved. All the patients had fever, 6 cases had joint swelling and pain, 10 cases had hepatosplenomegaly, 6 cases had cervical lymphadenopathy, 4 cases were complicated with central nervous system infection. Brucella agglutination test was positive in 9 cases and blood culture was positive for Brucella infection in all cases.

CONCLUSIONChildhood Brucella infections are usually presented with various clinical manifestations, and are often accompanied by symptoms of systemic infection. For fever of unknown origin, one should include tests associated with brucellosis and pay special attention to differential diagnosis against other diseases.

Animals ; Brucella ; Brucellosis ; diagnosis ; pathology ; Cattle ; Child ; Diagnosis, Differential ; Fever ; Humans ; Lymphatic Diseases ; pathology ; Meat ; Retrospective Studies ; Sheep ; Splenomegaly ; pathology

OBJECTIVETo analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians.

METHODThree sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent. All exons and the intron-exon boundaries of NPC1 gene were examined by bi-directional sequencing.

RESULTThree patients, 1 female and 2 males, aged from 2 months to 5 years and 10 months, all first complained of jaundice in the neonatal period. Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin. Total bile acid, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were also increased, while high-density lipoprotein cholesterol decreased. All patients were also accompanied by hepatosplenomegaly, with two of them having increased bronchovascular markings in chest X-ray. Two heterozygous changes of NPC1 gene, c.2741G>T +c.3020C>G (p. C914F + p. P1007R), c.2177G>C + c.3734_ 3735delCT (p.R726T + p. P1245RfsX12), and c.2054T>C + c.2128C>T(p.I685T + p.Q710X), were identified in patient 1, 2 and 3, respectively.

CONCLUSIONWe reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China. For newborns with prolonged jaundice in the neonatal period, as well as neonatal cholestasis, hepatosplenomegaly, Niemann-Pick type C should be included in consideration of differential diagnosis. Genetic testing can identify causative mutations for diagnosis.

Asian Continental Ancestry Group ; Bile Acids and Salts ; Bilirubin ; Child ; Child, Preschool ; China ; Cholestasis ; etiology ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Lipoproteins, HDL ; Male ; Mutation ; Niemann-Pick Disease, Type C ; complications ; diagnosis ; genetics ; pathology ; Niemann-Pick Diseases ; Retrospective Studies ; Splenomegaly

Adult ; Aged ; Esophageal and Gastric Varices ; diagnosis ; surgery ; Female ; Humans ; Male ; Middle Aged ; Pancreas ; pathology ; surgery ; Pancreatic Neoplasms ; diagnosis ; surgery ; Splenomegaly ; diagnosis ; surgery ; Young Adult

OBJECTIVETo study the effect of spleen lymphocytes on the splenomegaly by hepatocellular carcinoma-bearing mouse model.

METHODSCell counts, cell cycle distribution, the percentage of lymphocytes subsets and the levels of IL-2 were measured, and two-dimensional gel electrophoresis (2-DE) was used to investigate the relationship between spleen lymphocytes and splenomegaly in hepatocellular carcinoma-bearing mice.

RESULTSCompared with the normal group, the thymus was obviously atrophied and the spleen was significantly enlarged in the tumor-bearing group. Correlation study showed that the number of whole spleen cells was positively correlated with the splenic index. The cell diameter and cell-cycle phase distribution of splenocytes in the tumor-bearing group showed no significant difference compared to the normal group. The percentage of CD3+ T lymphocytes and CD8+ T lymphocytes in spleen and peripheral blood of tumor-bearing mice were substantially higher than that in the normal mice. Meanwhile, the IL-2 level was also higher in the tumor-bearing group than in the normal group. Furthermore, two dysregulated protein, β-actin and S100-A9 were identified in spleen lymphocytes from H22-bearing mice, which were closely related to cellular motility.

CONCLUSIONIt is suggested that dysregulated β-actin and S100-A9 can result in recirculating T lymphocytes trapped in the spleen, which may explain the underlying cause of splenomegaly in H22-bearing mice.

Animals ; Carcinoma, Hepatocellular ; complications ; Cell Cycle ; Female ; Liver Neoplasms ; complications ; Lymphocytes ; physiology ; Mice ; Mice, Inbred ICR ; Neoplasms, Experimental ; therapy ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Spleen ; cytology ; pathology ; Splenomegaly ; etiology ; therapy ; Thymus Gland

Aloe is one of the leading products used in phytomedicine. Several cases of aloe-induced toxic hepatitis have been reported in recent years. However, its toxicology has not yet been systematically described in the literature. A 21-year-old female patient was admitted to our hospital with acute hepatitis after taking an aloe vera preparation for four weeks. Her history, clinical manifestation, laboratory findings, and histological findings all led to the diagnosis of aloe vera-induced toxic hepatitis. We report herein on a case of acute toxic hepatitis induced by aloe vera.
Adult ; Aged ; Alanine Transaminase/blood ; Alkaline Phosphatase/blood ; Aloe/*chemistry/metabolism ; Drug-Induced Liver Injury/*diagnosis/etiology/pathology ; Female ; Humans ; Liver/pathology ; Male ; Middle Aged ; Plant Extracts/*adverse effects/*chemistry ; Splenomegaly/diagnosis ; Tomography, X-Ray Computed ; Young Adult