No abstract available.
Adult ; Bone Marrow/pathology ; DNA Mutational Analysis ; Humans ; Leukemia, Myelomonocytic, Chronic/*diagnosis/genetics/therapy ; Leukemia, Neutrophilic, Chronic/*diagnosis/genetics/therapy ; Leukocyte Disorders/diagnosis ; Male ; Middle Aged ; Mutation ; Prognosis ; Receptors, Colony-Stimulating Factor/*genetics ; Recurrence ; *Stem Cell Transplantation ; Transplantation, Homologous

This study was aimed to investigate the incidence of JAK2V617F mutation in BCR-ABL negative patients with myeloproliferative disorders (MPD) and its relation with clinical characteristics of MPD. The sensitive and specific test for JAK2V617F mutation was established for improving diagnosis level in Gansu province. 47 BCR/ABL negative MPD patients and 12 healthy people were enrolled in this study. Allele specific polymerase chain reaction (AS-PCR) was used to amplify the exon 12 of JAK2 gene which harbours V617F mutation. The PCR products were identified by DNA sequencing. And its relation with clinical characteristics of MPD was analyzed also. The results indicated that the incidence of JAK2V617F positive mutation in 47 patients with BCR-ABL negative MPD was 74.5 % (35/47), including 83.9 %(26/31) in patients with polycythemia vera (PV), 60 % (9/15) in patients with essential thrombocythemia (ET), only in one patient with idiopathic myelofibrosis (IMF). In PV group, the patients with JAK2V617F positive mutation had higher counts of WBC and Plt than patients with JAK2V617F negative mutation. In ET group, the patients with JAK2V617F positive mutation had higher WBC count and Hb level than those in the patients with JAK2V617F negative mutation with tendency of suffering from complications such as hepatosplenomegaly, haemorrhage and thrombosis. It is concluded that JAK2V617F mutation is more frequent in BCR-ABL negative patients with MPD, the AS-PCR method is sensitive and specific for detection of the mutation and may successfully use in clinical examination.
Adult ; Aged ; Case-Control Studies ; Female ; Humans ; Janus Kinase 2 ; genetics ; Leukocyte Count ; Male ; Middle Aged ; Mutation ; Myeloproliferative Disorders ; diagnosis ; genetics ; Polycythemia Vera ; diagnosis ; genetics ; Primary Myelofibrosis ; diagnosis ; genetics

BACKGROUND: Fever is a very common complication that has been related to poor outcomes after aneurysmal subarachnoid hemorrhage (aSAH). The incidence of acalculous cholecystitis is reportedly 0.5%–5% in critically ill patients, and cerebrovascular disease is a risk factor for acute cholecystitis (AC). However, abdominal evaluations are not typically performed for febrile patients who have recently undergone aSAH surgeries. In this study, we discuss our experiences with febrile aSAH patients who were eventually diagnosed with AC. METHODS: We retrospectively reviewed 192 consecutive patients who underwent aSAH from January 2009 to December 2012. We evaluated their characteristics, vital signs, laboratory findings, radiologic images, and pathological data from hospitalization. We defined fever as a body temperature of >38.3℃, according to the Society of Critical Care Medicine guidelines. We categorized the causes of fever and compared them between patients with and without AC. RESULTS: Of the 192 enrolled patients, two had a history of cholecystectomy, and eight (4.2%) were eventually diagnosed with AC. Among them, six patients had undergone laparoscopic cholecystectomy. In their pathological findings, two patients showed findings consistent with coexistent chronic cholecystitis, and two showed necrotic changes to the gall bladder. Patients with AC tended to have higher white blood cell counts, aspartame aminotransferase levels, and C-reactive protein levels than patients with fevers from other causes. Predictors of AC in the aSAH group were diabetes mellitus (odds ratio [OR], 8.758; P = 0.033) and the initial consecutive fasting time (OR, 1.325; P = 0.024). CONCLUSIONS: AC may cause fever in patients with aSAH. When patients with aSAH have a fever, diabetes mellitus and a long fasting time, AC should be suspected. A high degree of suspicion and a thorough abdominal examination of febrile aSAH patients allow for prompt diagnosis and treatment of this condition. Additionally, physicians should attempt to decrease the fasting time in aSAH patients.
Acalculous Cholecystitis ; Aneurysm* ; Aspartame ; Body Temperature ; C-Reactive Protein ; Cerebrovascular Disorders ; Cholecystectomy ; Cholecystectomy, Laparoscopic ; Cholecystitis ; Cholecystitis, Acute* ; Critical Care ; Critical Illness ; Diabetes Mellitus ; Diagnosis ; Fasting ; Fever* ; Hospitalization ; Humans ; Incidence ; Intensive Care Units ; Leukocyte Count ; Prognosis ; Retrospective Studies ; Risk Factors ; Subarachnoid Hemorrhage* ; Urinary Bladder ; Vital Signs

BACKGROUND: Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics. METHODS: A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutation was analyzed by the direct sequencing method. RESULTS: CALR mutations were detected in 21.9% of ET and 16.7% of PMF patients, which accounted for 58.5% and 33.3% of ET and PMF patients without Janus kinase 2 (JAK2) or myeloproliferative leukemia virus oncogenes (MPL) mutations, respectively. A total of five types of mutation were detected, among which, L367fs*46 (53.6%) and K385fs*47 (35.7%) were found to be the most common. ET patients with CALR mutation had lower leukocyte counts and ages compared with JAK2-mutated ET patients. CONCLUSION: Genotyping for CALR could be a useful diagnostic tool for JAK2-or MPL-negative ET or PMF patients. CALR mutation may be a distinct disease group, with different hematological characteristics than that of JAK2-positive patients.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Base Sequence ; Calreticulin/*genetics ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Janus Kinase 2/genetics ; Leukocyte Count ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Myeloproliferative Disorders/diagnosis/*genetics/pathology ; Receptors, Thrombopoietin/genetics ; Young Adult

BACKGROUND: Fever is a very common complication that has been related to poor outcomes after aneurysmal subarachnoid hemorrhage (aSAH). The incidence of acalculous cholecystitis is reportedly 0.5%–5% in critically ill patients, and cerebrovascular disease is a risk factor for acute cholecystitis (AC). However, abdominal evaluations are not typically performed for febrile patients who have recently undergone aSAH surgeries. In this study, we discuss our experiences with febrile aSAH patients who were eventually diagnosed with AC. METHODS: We retrospectively reviewed 192 consecutive patients who underwent aSAH from January 2009 to December 2012. We evaluated their characteristics, vital signs, laboratory findings, radiologic images, and pathological data from hospitalization. We defined fever as a body temperature of >38.3℃, according to the Society of Critical Care Medicine guidelines. We categorized the causes of fever and compared them between patients with and without AC. RESULTS: Of the 192 enrolled patients, two had a history of cholecystectomy, and eight (4.2%) were eventually diagnosed with AC. Among them, six patients had undergone laparoscopic cholecystectomy. In their pathological findings, two patients showed findings consistent with coexistent chronic cholecystitis, and two showed necrotic changes to the gall bladder. Patients with AC tended to have higher white blood cell counts, aspartame aminotransferase levels, and C-reactive protein levels than patients with fevers from other causes. Predictors of AC in the aSAH group were diabetes mellitus (odds ratio [OR], 8.758; P = 0.033) and the initial consecutive fasting time (OR, 1.325; P = 0.024). CONCLUSIONS: AC may cause fever in patients with aSAH. When patients with aSAH have a fever, diabetes mellitus and a long fasting time, AC should be suspected. A high degree of suspicion and a thorough abdominal examination of febrile aSAH patients allow for prompt diagnosis and treatment of this condition. Additionally, physicians should attempt to decrease the fasting time in aSAH patients.
Acalculous Cholecystitis ; Aneurysm ; Aspartame ; Body Temperature ; C-Reactive Protein ; Cerebrovascular Disorders ; Cholecystectomy ; Cholecystectomy, Laparoscopic ; Cholecystitis ; Cholecystitis, Acute ; Critical Care ; Critical Illness ; Diabetes Mellitus ; Diagnosis ; Fasting ; Fever ; Hospitalization ; Humans ; Incidence ; Intensive Care Units ; Leukocyte Count ; Prognosis ; Retrospective Studies ; Risk Factors ; Subarachnoid Hemorrhage ; Urinary Bladder ; Vital Signs