[Mutation Rate and Clinical Characteristics of CALR, JAK2 V617F and MPL W515K Genes in Patients With Primary Thrombocythemia].

OBJECTIVE: To analyze the mutation rate and clinical characteristics of CALR, MPL W515K and JAK2 V617F genes in patients with primary thrombocythemia (PT). METHODS: Fifty-six patients with PT were selected as the research objects in our hospital. The CALR and MPL W515K gene mutations were determined by genomic DNA-PCR direct sequencing of the PCR products, and the JAK2 V617F gene mutation was detected by allele specific PCR method. RESULTS: Among the 56 patients with PT there were 14 cases of CALR gene mutation with the incidence rate of 25%, including 6 cases of type I, 5 cases of type II and 3 cases of type III. The sex, age, platelet(Plt) count, white blood cell (WBC) count and hemoglobin (Hb) level in the type I case of CALR gene mutation all were not significantly different from that in type II and III(all P>0.05); the WBC level in type III group significantly increased in comparison of type II group (P<0.05), while the sex, age, Hb and Plt levels showed no significant difference between the type III and type II groups (P>0.05). There were 3 cases of MPL W515K gene mutation with the incidence rate of 5.36%; 21 cases of JAK2 V617F gene mutation with the incidence rate of 37.50%. There were 13 cases of CALR gene mutation in negative patients with MPL W515K and JAK2 V617F (18 cases) with 72.22% incidence rate (13/18), and there was no cases of 1 or 2 gene mutations coexisted. The levels of Hb and WBC in peripheral blood of patients with CALR mutation were significantly lower than those of JAK2 V617F mutation (both P<0.05). In 56 cases, there were 3 cases of abnormal karyotype, with the incidence rate of 5.36%. The mutation rate of CALR gene in abnormal karyotypes (66.67%) was significantly higher than that of normal karyotypes (20.75%) (P<0.01). CONCLUSION: The incidence of JAK2 V617F gene mutation increases in the patients with primary thrombocythemia; CALR mutation rate is higher in the patients with negative MPL W515K and JAK2 V617F gene mutation, which may closely correlate with abnormal karyotype; the levels of peripheral Hb and WBC in PT the patients with CALR gene mutation are significantly lower than those in patients with JAK2 V617F mutation.

Reduced self-regulation of cerebrum contributes to executive impairment in patients with temporal lobe epilepsy.

The aim of this study was to investigate the role of self-regulation of cerebrum in the executive impairment. 22 subjects were enrolled were assessed by a neuropsychological test of executive function using attentional networks test and the cerebral activity was evaluated by functional magnetic resonance imaging. The patients with TLE had a longer reaction time than controls (P < 0.05). Moreover, the healthy controls showed more right hemisphere lateralized activation in incongruent tasks. Finally, both positively and negatively correlated cerebral areas were found in the healthy controls but only negatively correlated cerebral areas were found in the TLE patients. Reduced cerebral lead to areas and lack of activation of right midline positively self-regulatory cerebral areas may executive impairment in TLE patients.

Temporal lobe epilepsy: decreased thalamic resting-state functional connectivity and their relationships with alertness performance.

OBJECTIVES: Studies have provided evidence regarding the pathology of the thalamus in patients with temporal lobe epilepsy (TLE). The thalamus, particularly the right thalamus, is one of the subcortical structures that are most uniformly accepted as being significantly involved in alertness. Moreover, alertness impairment in epilepsy has been reported. This study aimed to investigate alterations in thalamic resting-state functional connectivity (FC) and their relationships with alertness performance in patients with TLE; an issue that has not yet been addressed. METHODS: A total of 15 patients with right TLE (rTLE) and 16 healthy controls were recruited for the present study. All of the participants underwent a resting-state functional magnetic resonance imaging (fMRI) scan and the attention network test (ANT). Whole-brain voxel-wise FC analyses were applied to extract the thalamic resting-state functional networks in the patients with rTLE and healthy controls, and the differences between the two groups were evaluated. Correlation analyses were employed to examine the relationships between alterations in thalamic FC and alertness performance in patients with rTLE. RESULTS: Compared to the healthy controls, the FC within and between the bilateral thalamus was decreased in the patients with rTLE. Moreover, in the patient group, the bilateral anterior cingulate cortex (ACC) and subcortical regions, including the bilateral brainstem, cerebellum, putamen, right caudate nucleus, and amygdala, exhibited decreased FC with the ipsilateral thalamus (p<0.05, AlphaSim corrected, cluster size>44) but not with the contralateral thalamus (p<0.05, AlphaSim corrected, cluster size>43). The intrinsic and phasic alertness performances of the patients were impaired (p=0.001 and p<0.001, respectively) but not correlated with decreased thalamic FC. Meanwhile, the alertness performance was not altered in right TLE but was negatively correlated with decreased thalamic FC with ACC (p<0.05). CONCLUSIONS: Our findings highlight the functional importance of the thalamus in TLE pathology and suggest that damage to the thalamic resting-state functional networks, particularly ipsilateral to the epileptogenic focus, is present in patients with TLE.

Alteration of functional connectivity within visuospatial working memory-related brain network in patients with right temporal lobe epilepsy: a resting-state fMRI study.

PURPOSE: This study aimed to investigate the resting-state brain network related to visuospatial working memory (VSWM) in patients with right temporal lobe epilepsy (rTLE). The functional mechanism underlying the cognitive impairment in VSWM was also determined. METHOD: Fifteen patients with rTLE and 16 healthy controls matched for age, gender, and handedness underwent a 6-min resting-state functional MRI session and a neuropsychological test using VSWM_Nback. The VSWM-related brain network at rest was extracted using multiple independent component analysis; the spatial distribution and the functional connectivity (FC) parameters of the cerebral network were compared between groups. Behavioral data were subsequently correlated with the mean Z-value in voxels showing significant FC difference during intergroup comparison. RESULTS: The distribution of the VSWM-related resting-state network (RSN) in the group with rTLE was virtually consistent with that in the healthy controls. The distribution involved the dorsolateral prefrontal lobe and parietal lobe in the right hemisphere and the partial inferior parietal lobe and posterior lobe of the cerebellum in the left hemisphere (p<0.05, AlphaSim corrected). Between-group differences suggest that the group with rTLE had a decreased FC within the right superior frontal lobe (BA8), right middle frontal lobe, and right ventromedial prefrontal lobe compared with the controls (p<0.05, AlphaSim corrected). The regions of increased FC in rTLE were localized within the right superior frontal lobe (BA11), right superior parietal lobe, and left posterior lobe of the cerebellum (p<0.05, AlphaSim corrected). Moreover, patients with rTLE performed worse than controls in the VSWM_Nback test, and there were negative correlations between ACCmeanRT (2-back) and the mean Z-value in the voxels showing decreased or increased FC in rTLE (p<0.05). CONCLUSION: The results suggest that the alteration of the VSWM-related RSN might underpin the VSWM impairment in patients with rTLE and possibly implies a functional compensation by enlarging the FC within the ipsilateral cerebral network.

[Clinical and microbiological characteristics of Rhizobium radiobacter infectious: six cases report and literature review].

OBJECTIVE: to explore the clinical and microbiological characteristics of Rhizobium radiobacter infection, and therefore to provide information for the prevention and treatment of the disease. METHODS: the clinical and microbiological data were analyzed for patients proved to have Rhizobium radiobacter infection by blood culture obtained from May 2008 to July 2009 in the Second Affiliated Hospital of Fujian Medical University. Related literature were reviewed. RESULTS: there were 4 males and 2 females aging 5 - 88 years old. All the patients suffered from fever and chillsor malaise, and had increased peripheral WBC or neutrophil count. The majority (5/6) of the infections was pneumonia, characterized by mild cough and expectoration, lung rales, patchy infiltrates on chest X-ray. All the patients had underlying diseases or were immunocompromised. Five of the 6 patients had close soil exposure. Four of the 6 patients received broad-spectrum antibiotics or immunosuppressive therapy. Antibacterial susceptibility testing showed that, all the isolates of Rhizobium radiobacter were susceptible to the third generation cephalosporins, cephamycins, Carbapenems, fluoroquinolones, tetracycline, nitrofurantoin and some of the aminoglycosides, but resistant to penicillins, penicillins/enzyme inhibitors, first and fourth generation cephalosporins, and helices beta-lactamase antibiotics. There were no complications, and all patients recovered uneventfully after treatment with antibiotics according to the susceptibility testing. CONCLUSIONS: rhizobium radiobacter infections often occur in patients with underlying risk factors. The clinical manifestations of Rhizobium radiobacter infection are nonspecific. The organism is sensitive to most antibiotics, and the clinical outcome is favorable.

[Characteristics of hearing loss in 299 high-risk neonates].

OBJECTIVE: To compare the occurrence of hearing loss in neonates with hyperbilirubinemia, hypoxic-ischemic encephalopathy (HIE) and very low-birth weight infant (VLBW) body mass, and to provide evidence for early intervention. METHODS: Totally 299 high-risk neonates (598 ears) were divided into six groups: pure hyperbilirubinemia group, pure HIE group, hyperbilirubinemia with HIE group, hyperbilirubinemia with VLBW group, HIE with LBWI group, hyperbilirubinemia with VLBW and HIE mass group. Auditory brainstem response (ABR) was detected in all groups. RESULTS: The hearing threshold of ABR and the abnormal rate of hyperbilirubinemia with LBWI and HIE were much higher than that of pure hyperbilirubinemia and pure HIE neonates. CONCLUSIONS: Of the three high-risk factors, hearing loss occurs more often and more serious in neonates with hyperbilirubinemia and with VLBW while as HIE body mass. So the babies should receive hearing screening with ABR and be treated in time or following up as early as possible.