LNK Gene Single Nucleotide Polymorphisms and Acute Leukemia Susceptibility / 中国实验血液学杂志

<p><b></b>To investigate the relationship between the LNK(SH2B3) gene single nucleotide polymorphism and risk of acute leukemia (AL) in Chinese population.</p><p><b>METHODS</b>The bone marrow and peripheral blood samples from 31 cases of acute lymphoblastic leukemia, 70 cases of acute myeloid leukemia and 130 healthy persons as the controls were collected. Genotype of LNK SNP Rs3184504(c.784T>C) and Rs78894077(c.724C>T) were determined by PCR-RFLP, and were confirmed by gel electrophoresis and sequencing. The NB4, THP-1 and Raji leukemia cell line models were cultured, the leukemia cell line LNK Rs3184504 and Rs78894077 polymorphism were detected by using direct sequencing.</p><p><b>RESULTS</b>The CC genotype frequencies of Rs3184504 SNP were higher in ALL and AML patients than those in control (P<0.01), but there was no different between the groups in AML and ALL. The frequency of LNK gene Rs3184504 C allele was higher in AL as compared with control (P<0.01). The LNK gene Rs78894077 locus genotype distribution was not significantly different between the AL and the normal control group (P>0.05). Both Rs3184504 and Rs78894077 sites were detected as CC genotype in NB4, THP-1 and Raji cells.</p><p><b>CONCLUSION</b>The persons carrying C allele of LNK gene Rs3184504 are more prone to develop acute leukemia.</p>

Role of signal transducer and activator of transcription 3 in the development of tumors / 中国实验血液学杂志

Signal transducer and activator of transcription 3 (STAT3) take part in cell proliferation, differentiation, survival, apoptosis, transformation, cellular immunity and some other important physiological and pathological processes. Among STAT3 signaling pathways, the JAK-STAT signaling pathway has been comprehensively studied. Abnormal activation of STAT3 is frequently detected in various tumors, and the abnormal activation is closely related with the tumorigenesis. Recent studies have found that mutations and several specific genotypes of single nucleotide polymorphisms in STAT3 gene may be involved in tumor formation, also suggesting the important role of STAT3 in tumor biology. In this review, the role of STAT3 in the development of tumors is briefly summarized.

Role of LNK gene mutation in pathogenesis of myeloproliferative neoplasms-review / 中国实验血液学杂志

Myeloproliferative neoplasms ( MPN ) is a class of clonal hematopoietic stem cell disease. Studies found that the JAK-STAT signaling pathway is closely related to the pathogenesis of MPN. The lymphocyte-specific adaptor protein (LNK) gene negatively regulates Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling and may play an important role in the pathogenesis of MPN. Especially in JAK2 mutation-negative MPN, LNK gene specific mutations may be the key to cause MPN subtypes. Certain single nucleotide polymorphism of LNK gene regulation of hematopoietic cells in different directions may also be important influence factors of MPN performance for different subtypes. LNK gene functional changes lead to abnormal activation of the JAK-STAT signaling pathway, and may be a new mechanism of MPN. In this review, the role of LNK gene in MPN pathogenesis is briefly summarized.

Neuromodulation for treatment for neurogenic bowel dysfunction / 中华外科杂志

<p><b>OBJECTIVE</b>To explore the efficacy of neuromodulation (including sacral neuromodulation and dorsal penile/clitoral nerve neuromodulation) for the treatment to neurogenic bowel dysfunction due to spinal cord injury.</p><p><b>METHODS</b>From January 2006 to April 2008, 9 patients with neurogenic constipation after spinal cord injury underwent the therapy of neuromodulation, 1 patient underwent the therapy of sacral neuromodulation, 8 patients underwent the therapy of dorsal penile/clitoral nerve neuromodulation. The therapeutic efficacy was evaluated and followed up by means of Wexner constipation score.</p><p><b>RESULTS</b>One patient received permanent electrode and neurostimulator implantation and constipation were improved continuously. A significant improvement in the Wexner constipation score was observed compared with the preoperative baseline level (preoperative baseline: median 22; after implantation: median 9). Four patients were effective after the therapy of dorsal penile/clitoral nerve neuromodulation. Wexner constipation score decrease from 19 to 11 after 12 weeks dorsal penile/clitoral nerve neuromodulation. Patients also showed a significant improvement in their symptoms and quality of life during follow up.</p><p><b>CONCLUSIONS</b>Sacral neuromodulation and dorsal penile/clitoral nerve neuromodulation may be effective for some neurogenic constipation. However there are no methods successfully identify the candidate who will be beneficial before the procedure. Good quality research data are needed to evaluate the effects of sacral neuromodulation and dorsal penile/clitoral nerve neuromodulation for these conditions.</p>

Video-urodynamic studies on 1800 patients with neurogenic bladder / 中华外科杂志

<p><b>OBJECTIVE</b>To explore the Video-urodynamic characteristics of various neurogenic bladder.</p><p><b>METHODS</b>A total of 1800 patients with neurogenic bladder were included in our study from December 2002 to June 2008. All patients underwent Video-urodynamic studies. Urodynamic data was collected and analyzed.</p><p><b>RESULTS</b>Urodynamic study showed detrusor overactivity in 71%, of which 60% with uninhibited sphincter relaxation, and acontractile detrusor in 29% stroke patients. No upper urinary tract deterioration was found in all 42 stroke patients. Detrusor overactivity without sphincter dyssynergia was found in 70% patients with head trauma. Seven patients with Parkinson disease showed detrusor overactivity, of which 3 with delayed sphincter relaxation. Detrusor overactivity was found in 91% and detrusor sphincter dyssynergia in 83% supra-sacral spinal cord injured patients. Acontractile detrusor was found in 73% patients with conus medullaris and cauda equina injury. Overall, upper urinary tract changes were found in 12% and vesicoureteral reflux in 4% spinal cord injured patients. Urodynamic study showed acontractile detrusor in 81%, reduced compliance in 86%, upper urinary tract changes in 55% and vesicoureteral reflux in 33% patients with myelodysplasia. Most patients (92%) with protruded lumbar disc showed detrusor areflexia. Normal bladder compliance was found in 88% patients with protruded lumbar disc. Urodynamic study showed reduced bladder sensation in 81% and detrusor under-activity in 76% patients with diabetic urinary bladder disease.</p><p><b>CONCLUSIONS</b>Video-urodynamic study can provide the most detailed information about the bladder dysfunction. It is the most valuable examination before treatment of patients with neurogenic bladder.</p>