浙江地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症的遗传学分析

目的　分析浙江地区新生儿葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase，G6PD）缺乏症的基因突变特点，探讨其遗传多样性。方法　以2015年3月至2017年9月在浙江地区出生、经浙江省新生儿遗传代谢筛查中心G6PD缺乏症筛查发现的2242例患儿为对象，收集其新生儿筛查的G6PD活性值与剩余干滤纸血斑，并提取其血斑的基因组DNA。采用MassARRAY技术检测35个G6PD突变位点。采用SPSS 22.0软件统计分析基因型与G6PD活性的关系，P＜0.05为差异有统计学意义。结果　2163例检出突变，总检出率为96.47%，其中男性为96.51%（1995/2067），女性为96%（168/175）。共检出21种突变位点，44种变异基因型，其中男性半合子19型，女性杂合子14型，女性纯合子3型，女性复合杂合8型。95.93%的G6PD突变位于12、9、2、5外显子，其中c.1376G＞T、c.1388G＞A、c.1024C＞T、c.95A＞G、c.871G＞A、c.392G＞T占92.96%。c.1376G＞T、c.1388G＞A、c.1024C＞T、c.95A＞G四种基因型的G6PD活性差异有统计学意义（P＜0.0001）。结论　浙江地区G6PD缺乏症存在基因突变热点，c.1024 C＞T的突变频率具有明显地域特征，MassARRAY技术检测特定G6PD突变位点可推荐为G6PD缺乏症的二级筛查方法之一。     

Adjustable laparoscopic gastric banding in patients with morbid obesity: radiographic management, results, and postoperative complications

PURPOSE: To determine the role of radiographic assessment in patients who underwent an adjustable laparoscopic gastric banding (ALGB) for the treatment of morbid obesity, and to evaluate the frequency and type of postoperative complications. MATERIALS AND METHODS: From September 1995 to March 1998, 98 consecutive patients (18 men, 80 women; mean age, 39 years; age range, 22-62 years) with morbid obesity (mean body weight, 132 kg; mean body mass index, 47.1 kg/m(2)) underwent ALGB. In all patients, fluoroscopy was performed postoperatively to confirm band position and to exclude perforation and at 6-8 weeks later to measure and adjust the stoma between the pouch and stomach for optimal weight loss. All patients underwent another examination 12 months postoperatively, whereas patients with unsatisfactory weight loss or patients suspected of having complications were examined earlier and on several occasions. RESULTS: Port puncture was feasible in all cases, and stomal adjustments could easily be repeated. Absolute (ie, total) weight loss after 1 year ranged from 8.8% to 39.2% (mean, 18.3%). Twenty patients showed unsatisfactory weight loss. No early complications occurred. Late complications occurred in 34 patients and included pouch dilatation (concentric or eccentric with posterior slippage), eccentric band herniation, band penetration, disconnection, axial pouch herniation, and port-site infection. CONCLUSION: ALGB is an effective method in the treatment of morbid obesity. Radiographic assessments are crucial in the management of weight loss and detection of postoperative complications.     

Changes in prevalence and severity of asthma among schoolchildren in a Swedish district between 1985 and 1995

The same questionnaire and study design was used in two surveys of asthma among all the children attending the 9-y compulsory school in Sundsvall in 1985 (n = 10 527) and 1995 (n = 9 165). A detailed questionnaire was distributed by post to the parents of all children who had answered in the affirmative to a simple screening question on asthmatic symptoms at the beginning of the autumn term. The questionnaire contained detailed questions on symptoms and asthma management. Our findings indicated a moderate increase in reported asthma-like symptoms and physician-diagnosed asthma between 1985 and 1995. The severity of symptoms was unchanged, despite a large community-based asthma campaign and a tenfold increase in the number of children receiving inhaled steroids. A validation analysis included an interview by a physician, a skin prick test, determination of specific IgE antibodies and spirometry. The oral interviews suggested that undertreatment was common. Many children had adequate medication at home, but this medication was not used properly. Finally, all 13-14-y-old children also replied to written and video questionnaires from the International Study of Asthma and Allergies in Childhood (ISAAC). It is likely that differences in study design explained the much higher prevalence of wheezing in this part of the study.     

Diagnosis and treatment of hepatic cysts

Hepatic cysts are at the present time of widespread use of abdominal ultrasonography a frequent finding. The authors summarize contemporary diagnostic possibilities of liver cysts and submit variants of the therapeutic procedure in case of symptomatic liver cysts. They present their own experience with the treatment of hepatic cysts by the evaluation method combined with administration of 96% ethanol into the cyst. They compare this therapeutic procedure with the method of simple evaluation of the contents of the cyst. The method of evaluation of hepatic cysts under ultrasonographic control with subsequent administration of 96% alcohol appears to be more successful from the aspect of the long-term effect, manifested by the disappearance of clinical symptoms and non-refilling of the cyst.     

Prognostic markers of sepsis and septic shock

The first stage of systemic inflammatory response during sepsis and septic shock is the massive production of proinflammatory cytokines. Numerous clinical trials were done investigating various agents that were thought to stop this reaction. The results, however, were disappointing. Then it was realised that massive production of antiinflammatory cytokines could also be delirious. Persistent immunosuppression in the course of sepsis increased the risk of death. Therefore the proper balance between pro- and antiinflammatory mediators is extremely important and the methodologies available for monitoring immunological status in patients with sepsis and septic shock are currently of great interest.     

Multi-frequency tympanometry in experimentally-induced cochlear lesions in chinchillas and guinea pigs

OBJECTIVES: To establish that susceptance-conductance tympanograms at a probe-tone frequency of 2 kHz reflects the status of the annular ligament (AL) and through it of the cochlea. METHODS: Experimental study in 5 chinchillas and 22 guinea pigs. Six validating experiments were used: blockages of the stapes and of the round window membrane (RWM), fistula of the RWM, fluid removal from the cochlea, injection of saline in the scala tympani (ST) and acoustic trauma (AT). Quantitative data (mean values of Y226, FR, Y2000, G2000 and B2000) and shape of the curves were analyzed before and immediately after lesions were done. RESULTS: Guinea pig was the most convenient provided bulla was vented and the same tip was used along the experiments. Only the shape of the curves are discriminant: 1/a supplementary sharp peak, centered around negative pressures, is observed in Y/G tympanograms in every case of RWM fistulas and in some case of AT. 2/injection of saline into ST induces immediate and reproducible Y2000, G2000, et B2000 curves modifications. 3/RWM and stapes blockages provoke foreseeable stiffening and sharpening of the tympanograms at 2 kHz. 4/on the contrary, fluid removal from the cochlea induces multiple peaks curves. CONCLUSIONS: Experimentally-induced modifications at the AL either direct (stapes blockage) or indirect by AT or decrease/increase of pressure load at the cochlear interface at the footplate result in noticeable, constant, reproducible changes of curves registered at 2 kHz. The stapes behaves both as the plotter of the curves and the interpreter of the inner ear pressure.     

Calcium phosphate drug delivery system: influence of local zoledronate release on bone implant osteointegration

Despite total hip replacement (THR) gives generally satisfactory results, the quality of outcome in young patients is markedly decreased compared to the average THR outcome. For this population, pharmacological treatment with bisphosphonate would be beneficial to decrease the peri-implant osteolysis. However, as this population does not necessarily suffer from osteoporosis, a nonsystemic treatment would be preferable. Zoledronate was then grafted to hydroxyapatite (HA) coating of titanium implants. The implants were inserted in rat condyles with various zoledronate concentrations. A positive concentration-dependent effect was observed on the peri-implant bone density and on different histomorphometric parameters. Importantly for the outcome of the implants, the mechanical fixation was increased by the local presence of zoledronate. The obtained results open the way of an easy transformation of currently existing HA-coated implants by grafting bisphosphonate onto the coating in order to increase their service life in the patients.     

Cochlear hair cell loss in single-dose versus continuous round window administration of gentamicin

CONCLUSIONS: Gentamicin-induced cochlear hair cell loss depends on local middle ear administration kinetics and the total drug dose. Single-dose gentamicin instillation in the middle ear is associated with a high variation in hair cell loss. OBJECTIVE: To compare the effects of single-dose and continuous round window administration of gentamicin on cochlear hair cell loss in a guinea pig model. MATERIAL AND METHODS: Two methods for drug administration to the inner ear were used. In groups of five animals, a total dose of 0.8 or 3.2 mg of gentamicin was either instilled as a single dose directly into the round window niche or administered continuously over a 1-week period using a pump-catheter system. Continuous administration was achieved by means of a posterior tympanotomy and subcutaneous placement of an osmotic pump fitted with a catheter. The tip of the catheter was fixed in the round window niche. One group of five animals served as controls and received a saline infusion. The animals were sacrificed after 1 week and hair cell loss was determined microscopically after dissection and phalloidin labelling of the basilar membrane and organ of Corti. RESULTS: Quantitation of cochlear hair cell loss revealed a dose-dependent effect of gentamicin. With both treatment modalities the higher dose induced a higher percentage of hair cell loss. There was inner and outer hair cell loss in all four groups that received gentamicin. With the single-dose instillation, hair cell loss was distributed irregularly from the round window membrane towards the cochlear apex, whereas continuous administration induced hair cell loss close to the round window membrane. Single-dose instillation induced greater hair cell loss than continuous administration at the same dose. The inter-individual variation in hair cell loss was highest following single-dose instillation.     

In situ hybridization of dihydroxyacetone phosphate acyltransferase, the regulating enzyme involved in plasmalogen biosynthesis

In situ hybridization can be carried out using different methods. The experimenter has to choose various parameters: the type of tissue fixation, the time of incubation, and the duration of the exposure time. All these parameters are determinant for the sensitivity and the resolution of this technique. This publication of technical aspects described different experiments performed for in situ hybridization on liver tissue. We may conclude on the parameters to optimize each step of the hybridization procedure. Moreover, this technique could be transposed to the brain and applied to little structures with a light expression of DHAP-AT.