Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children,and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR.Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing.One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6VOA4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child.No mutation of both genes was found in the third child.Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.

BACKGROUND: Critical closing pressure (CCP) is recently thought to play a key role in cerebral blood flow autoregulation as an effective downstream pressure of cerebral circulation and can objectively reflect the cerebrovascular tone, namely the vascular smooth muscle contraction and diastole, which is subjected to dynamic modulation.OBJECTIVE: To dynamically assess the hypertension-induced damage of the contraction function of cerebral microvascular smooth muscles and its correlation with morphological changes based on CCP evaluation.DESIGN: Randomized controlled experiment.SETTING: Institute of Neural Science of Second Hospital Affiliated to Guangzhou Medical College and Department of Neurology, First Hospital Affiliated to Sun Yet-san University.MATERIALS: The experiment was carried out at the Laboratory of Physiological Science of Sun Yet-san University between July 2002 and August 2003. Totally 160 health male SD rats were randomized into control group and hypertension group with 80 rats in each group. METHODS: Stroke-prone renovas cular hyp ortonsive rats were established in rats of the hypertension group by bilateral renal artery occlusion with two clips. The rats in the control group were not subjected to the occlusion with other treatments identical to those of the hypertension group. At the time points of 2, 4, 6, 8, 10, 12, 14 and 16 weeks after operation, respectively, 10 rats were randomly selected from each of the two groups for determination of arterial pressure and CCP. After the measurements the frontal-parietal lobe was obtained from the anaesthetized rats and cut into slices for quantitative analysis of the morphological changes in cerebral microvessels.different postoperative time points.mean arterial pressure in hypertension group obviously increased from the 6th postoperative week with significant difference from that of the control after operation to a level significantly higher than that of the control group at postoperative 14 and 16 weeks [(63.75±7.43) vs (37.28±3.68) mm Hg and (67.37±15.57) vs (38.39t7.41) mm Hg, respectively, P ＜ 0.05].significance from that of the control group at the 8th postoperative week (Paverage arterial pressure and cerebral arteriole tunica media (r=0.906 93,0.811 36, respectively, P ＜ 0.05). The changes in CCP was more obvious in the early and advanced stages of blood pressure elevation, but not so manifest during obvious blood pressure increment, displaying an inverted S-shaped curve of changes (R2=0.996 2, P ＜ 0.05).CONCLUSION: Contraction of the cerebrovascular smooth muscles is enhanced with the dynamic increment of arterial pressure after the development of hypertension. Vascular tone increase is more manifest during the early and advanced stages of hypertension.

Objective To study the expression of interleukin-18(IL-18)during the progression of renal interstitial fibrosis in rat kidney after unilateral ureteral obstruction(UUO)and the effect of Shenfu injection.Methods The obstructive nephropathy model was established by unilateral ureteral obstruction(UUO).Fifty。Six rats were randomly assigned into shame operation group,operation group(UUOgroup)and treatment group(UUO+Shenfu).After 7 and 14 days,the renal function and histopathological changes were evaluated.Immunohistochemistry was used to examine the expression of IL-18 in renal tissue.Results In comparison with the shame opeartion group,the operation group showed obvious renal interstitial fibrosis.And the expression of IL-18 increased signifieantly(P<0.05).Compared with the operation group,the degree of interstitial fibrosis was obviously ameliorated in the treatment group,and the expression of IL-18 decreased significandy after treatment for 7 days(P<0.05),and decreased more after treatment for 14 days(P<0.05).Conclusions Shenfu injection may protect renal function by decreasing the expression of IL-18 in the progression of renal interstitial fibrosis.

Objective To investigate the impact of percutaneous coronary interventional (PCI) on the inflammatory indices and postoperative vascular restenosis.Methods This study involved 90 patients undergoing PCI procedures for Coronary artery disease (CAD) compromising a single coronary artery.Fourty healthy individuals with normal findings by coronary angiography were selected as the control group.Before and after PCI or coronary angiography,plasma hs-CRP and IL-6 were measured in all the subjects by immunonephelometry and enzyme-linked immunosorbant assay (ELISA),respectively.Results (1) In the CAD patients,the plasma hs-CRP level was significantly elevated after PCI as compared with the preoperative level((18.69 ±5.14) mg/L vs (14.45 ± 4.32) mg/L,t =1.42,P ＜ 0.01),whereas in the control group,the hs-CRP level underwent no significant changes after coronary angiography((13.59 ±5.99) mg/L vs(12.46 ±5.35) mg/L,t =1.25,P ＞ 0.05).(2) PCI procedures also resulted in significant elevation of plasma IL-6 level in the CAD patients((1.87±0.45) pg/L vs (1.35 ±0.39) pg/L,t =1.33,P＜0.01),but in the control group,IL-6 showed no significant variation after coronary angiography ((1.32 ± 0.41) pg/L vs (1.21 ± 0.38)pg/L,t =1.16,P ＞ 0.05).We observed significant difference of hs-CRP and IL-6 levels between the CAD patient group and the control group (t =4.96,6.61 respectively,P ＜ 0.01).Conclusion Plasma hs-CRP and IL-6 are elevated in CAD patients following PCI procedures.But the roles of elevated hs-CRP and IL-6 in the vascular restenosis following the procedures need further investigation.

Objective To describe the clinical characteristics,and to analyze the AGXT gene mutation in three siblings with primary hyperoxaluria type I (PHI).Methods AGXT gene mutation was analyzed by direct sequencing analysis in this family,and the minor allele status was also tested.One hundred unrelated healthy subjects were also analyzed as controls.Results Three mutations in AGXT were identified in each of three patients including two novel heterozygous missense mutations and one previously reported variant.One mutation was a methionine to leucine substitution at position 49 (p.M49L,c.145A ＞ C) in exon 1,one was an asparagine to isoleucine transition at codon 72 (p.N72I,c.215A ＞ T) in exon 2,and another was a heterozygous nonsense mutation at codon 333 (p.R333*).Both p.M49L and p.R333* occured in cis configuration with the minor allele IVS1 +74 bp.Conclusions Two novel mutations are identified probably in association with PHI,however their pathogenicity and potential molecular mechanisms should be explored by further investigations.This is the first investigation on mutant gene analysis of PHI in China.

AIM To investigate the role and mechanism of a novel antiepileptic drug topiramate on amygdala kindling in rats. METHODS The effects and mechanism of topiramate on kindling were examined by the establishment of amygdala kindling model and combination with other drugs. The influence of topiramate on seizures induced by semicarbazide hydrochloride(SCZ) was also observed. RESULTS Topiramate (50～200 mg?kg -1 ,ig) dose-dependently inhibited the seizure severity in amygdala kindling ( P

Objective To analyze the mutations of causal genes in sixteen Chinese patients with suspicious Bartter syndrome,and follow up their treatment results.Methods Mutations were identified by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA).Clinical and biochemical features at the first presentation as well as follow-up results were reviewed.Results 15 different CLCNKB gene mutations were identified in sixteen patients with BS,including 11 novel ones.A novel missense mutation and a novel small deletion were found from SLC12A1 gene.A novel gross deletion was found in CLCNKA gene.A recurrent missense mutation was identified from BSND gene.The whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32％),and the rate of gross deletion was up to 50 percent in this group of Chinese patients.The most common clinical manifestations were development retardation (15/16),polydipsia and polyuria (15/16).All of the patients were detected with hypokalemia,hypochloremia and metabolic alkalosis.Indomethacin treatment had significant improvement to the stature and weight restoration.Conclusion The present study has found 19 mutations,including 14 novel ones,which enriches the human gene mutation database (HGMD) and provides valuable references to the genetic counseling and diagnosis of Chinese population.

Objective:To report the diagnosis, treatment, and follow-up of a 21-hydroxylase deficiency boy with central precocious puberty caused by complex heterozygous mutation of CYP21A2 gene.Methods:The child was symptomatic of rapid growth and secondary sexual characteristics at the age of 6. The diagnosis of central precocious puberty was confirmed by serum testosterone, gonadotropin levels, and gonadotropin-releasing hormone (GnRH) stimulation test. 21-hydroxylase deficiency was diagnosed clinically based on the serum adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone levels, and images on the computed comography (CT) of the adrenal glands.Results:The CYP21A2 gene was detected to have a compound heterozygous mutation by Sanger sequencing and multiplex ligation-dependent probe amplification. During the 3 years follow-up, the effects of glucocorticoids, GnRH analogs, and recombinant human growth hormone were regularly monitored and evaluated.Conclusions:Glucocorticoid replacement followed the principle of the lowest effective dose. GnRH analogs showed an effective inhibition of the hypothalamus-pituitary-gonadal axis, while recombinant human growth hormone had no such growth-promoting effect.

Three cases of Langerhans cell histiocytosis (LCH)with central diabetes insipidus as the first manifestation were reported, with the summary of their clinical manifestations, laboratory examinations, imaging examinations, pathological results, diagnosis process, and treatment response. All three patients presented with central diabetes insipidus in the early stage. The pituitary magnetic resonance imaging (MRI)showed thickened pituitary stalks, and all lost the normal high signal of the posterior pituitary. Two patients showed isolated hypothalamic-pituitary lesions, while one case showed pituitary and thyroid systems involvement. Pathological findings showed typical Langerhans cells, immunohistochemistry showed positive for S-100, CD1a, Langerin. The clinical manifestations of LCH manifested distinct heterogeneity, which is easy to be misdiagnosed and left out. The diagnosis should be confirmed by pathological examination. The biopsy of isolated hypothalamic-pituitary lesions is difficult. It is recommended to actively screen other organs to increase the probability of biopsy. LCH-induced neurohypophysis requires life-long hormone replacement therapy.

OBJECTIVE: To observe the short-term and long-term curative effect of the xenogenic acellular dermal matrix membrane (or joint muscle flap transfer) application used in the 82 cases postoperative tissue shortage repair that after the head neck carcinoma resection. METHOD: To held the 82 cases head neck carcinoma postoperative mucosa shortage repaired after resection by the xenogenic acellular dermal matrix membrane (or joint muscle flap transfer), 65 cases mucosa shortage wound be directly covered by the repair membrane and the other 17 cases mucosa shortage wound be repaired by the tranfered muscle tissue flap with the repair membrane covered; 53 cases underwent additional postoperative radiotherapy between 2-4 weeks and follow-up in 1, 3, 6, 12, 18, 24, 30, 36, 48, 60 months and observed the operation site repair process through the electronic laryngoscope, observed the patients respiration, swallow, phonation function. RESULT: Seventy-seven cases patients operation incision reached I phase healing standard, another 5 cases patients operation incision reached II phase healing standard because of the wound infection and fully-recovered through the local wound drainage,dressing process. All the patients tracheal cannula,the stomach tube be extubated successfully and without the local cicatricial constriction occurred. Seventy-eight cases follow up period reached 1 year including 53 cases who underwent postoperative radiotherapy, 49 cases follow up period reached 3 years including 32 cases who underwent postoperative radiotherapy, 14 cases follow up period reached 5 years including 12 cases who underwent postoperative radiotherapy. The patients with static local lesions discovered no reaction such as exclusion, allergy. CONCLUSION The application of xenogenic acellular dermal matrix membrane (or joint muscle flap transfer used in in the postoperative tissue shortage repair that after the head neck carcinoma resection have several advantage such as comparatively easily implementation, operation safety edge enough,well preserved organ function, comparatively low incidence about the laryngeal stenosis, the short-term and long-term repair effect are all exact.
Acellular Dermis ; Carcinoma, Squamous Cell ; radiotherapy ; surgery ; Female ; Head and Neck Neoplasms ; radiotherapy ; surgery ; Humans ; Male ; Mucous Membrane ; surgery ; Postoperative Period ; Squamous Cell Carcinoma of Head and Neck ; Surgical Flaps ; transplantation ; Wound Healing