A Very Long-term Longitudinal Study on the Evolution and Clinical Outcomes of Persistent Iatrogenic Atrial Septal Defect After Cryoballoon Ablation

Background

Persistent iatrogenic atrial septal defect (iASD) is a common but poorly characterized complication after cryoballoon (CB) pulmonary vein isolation (PVI) procedures. We therefore investigate its prevalence, evolution, risk factors, and clinical outcomes in a prospective longitudinal study.

PINK1 mutations in sporadic early-onset Parkinson's disease.

Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population.     

Bone mineral density testing in healthy postmenopausal women. The role of clinical risk factor assessment in determining fracture risk.

The ease of measurement and the quantitative nature of bone mineral densitometry (BMD) is clinically appealing. Despite BMD's proven capability to stratify fracture risk, data indicate that clinical risk factors provide complementary information on fracture susceptibility that is independent of BMD. Methods to quantify fracture risk using both clinical and BMD variables would have great appeal for clinical decision-making. We describe a procedure for quantifying hip fracture risk (5-yr and remaining lifetime) based on (1) the individual's age alone (base model, assuming average clinical risk factors and bone density), (2) incorporation of multiple patient-specific clinical risk factor data in the base model, and (3) incorporation of both patient-specific clinical risk factor data and BMD results.     

输卵管积水造口术对体外受精与胚胎移植的影响

【目的】探讨在体外受精与胚胎移植 (IVF ET)之前输卵管积水患者行输卵管造口术对IVF ET治疗效果的影响。【方法】回顾分析 1999年 2月至 2 0 0 1年 1月因女性输卵管因素不孕行IVF ET治疗的 90 8个周期的资料。按输卵管积水患者在IVF ET前是否治疗分 3组 ,A组 :输卵管积水未手术治疗行IVF ET 2 3个周期 ,B组 :在IVF ET之前行输卵管积水造口术 (腹腔镜下或开腹 ) 2 2个周期 ,C组 :对照组 (输卵管阻塞 ,未发现输卵管积水 ) 86 3个周期。【结果】A组、B组、C组的IVF ET的种植率分别为 9 7%、17 9%、16 7% ,临床妊娠率分别为 2 1 7%、4 0 9%、39 2 %。A组的种植率及临床妊娠率比其它组低 ,经 χ2 检验 ,有统计学意义。【结论】输卵管积水未治疗行IVF ET的种植率及临床妊娠率较低 ,但在IVF ET之前行输卵管造口术可改善IVF ET的种植率及临床妊娠率     

Overview of the Clinical Efficacy of Lamotrigine

Summary: Testing the efficacy of lamotrigine (LTG) in epileptic patients has been approached in several ways. The first pilot study examined the effect of a single dose of LTG in patients with frequent interictal spikes, and a reduction in spike frequency was observed. Subsequently, single doses reduced photosensitivity in appropriate patients. Single-blind administration of LTG for 1 week in addition to the patients' regular antiepileptic drugs (AEDs), in patients with refractory seizures, reduced seizures despite the short duration of therapy. This regimen was continued using a placebo-controlled crossover study with 1-week duration of treatment. Efficacy in partial and tonic-clonic seizures was subsequently confirmed in four double-blind crossover studies; a meta-analysis of these four studies showed a 30% reduction in partial seizures despite the intractable nature of the seizures in the patients included. Current studies aim at evaluating the drug as monotherapy and in different seizure types.     

Inguinal hernia repair in Hospital Authority hospitals: The role of laparoscopic hernioplasty

Objective: Two major changes have occurred in inguinal hernia repair during the last two decades: (i) the use of tension‐free mesh repair; and (ii) the application of laparoscopic technique for repair. The aims of the present study were to study: (i) how inguinal hernia repair was carried out; and (ii) the outcome of inguinal hernia repair in Hospital Authority (HA) hospitals. Methodology: This was a retrospective analysis on 8311 elective inguinal hernia repairs performed in 16 HA hospitals from January 2001 to December 2003. The mean age was 63.9 ± 14.2 years, and the male to female ratio was 22.0 : 1.0. Among these, 869 (10.5%) repairs were performed with the laparoscopic approach and 7442 (89.5%) repairs with the open approach. The proportion of laparoscopic hernia repair increased from 8.7% to 12.6%. Results: For open repair, 39% of cases were carried out with regional anaesthesia, 32% with general anaesthesia and 29% with local anaesthesia (LA). Furthermore, mesh repair was used in 88% of the patients. For laparosocpic repair, 98.4% of cases were carried out under general anaesthesia, and all patients had mesh repair using the totally extraperitoneal approach. A significantly higher proportion of bilateral repair and recurrent hernia repair was performed with the laparoscopic approach (P = 0.000). For primary unilateral repair, there was no significant difference in the postoperative length of stay (LOS) and the total LOS between the laparoscopic and the open surgery groups. No difference in LOS was found in recurrent hernia repair between the two groups. With respect to bilateral repair, both the preoperative LOS (P = 0.036) and total LOS (P = 0.039) were shorter in the laparoscopic group. Furthermore, a significantly higher proportion of day‐surgery patients was observed in the laparoscopic group than the open surgery group (21.3%vs 16.9%, P = 0.001). Nevertheless, when only the results of 2003 were analyzed, the postoperative LOS (P = 0.000) and total LOS (P = 0.000) were significantly shorter in the laparoscopic group than the open surgery group. The LOS parameters were significantly shorter in the open surgery LA subgroup compared with the non‐LA subgroup (P = 0.000), and they were not different from those in the laparoscopic group. Conclusions: The open mesh repair is the predominant approach for inguinal hernia repair in HA hospitals. The originally described local anaesthetic approach was under utilized, although it resulted in good outcome. The use of laparoscopic hernia repair is increasing and a learning curve was recently observed with improved outcome.     

Resetting of the arterial baroreflex increases orthostatic sympathetic activation and prevents postural hypotension in rabbits

Since humans are under ceaseless orthostatic stress, the mechanism to maintain arterial pressure (AP) under orthostatic stress against gravitational fluid shift is of great importance. We hypothesized that (1) orthostatic stress resets the arterial baroreflex control of sympathetic nerve activity (SNA) to a higher SNA, and (2) resetting of the arterial baroreflex contributes to preventing postural hypotension. Renal SNA and AP were recorded in eight anaesthetized, vagotomized and aortic-denervated rabbits. Isolated intracarotid sinus pressure (CSP) was increased stepwise from 40 to 160 mmHg with increments of 20 mmHg (60 s for each CSP level) while the animal was placed supine and at 60 deg upright tilt. Upright tilt shifted the CSP–SNA relationship (the baroreflex neural arc) to a higher SNA, shifted the SNA–AP relationship (the baroreflex peripheral arc) to a lower AP, and consequently moved the operating point to marked high SNA while maintaining AP. A simulation study suggests that resetting in the neural arc would double the orthostatic activation of SNA and increase the operating AP in upright tilt by 10 mmHg, compared with the absence of resetting. In addition, upright tilt did not change the CSP–AP relationship (the baroreflex total arc). A simulation study suggests that although a downward shift of the peripheral arc could shift the total arc downward, resetting in the neural arc would compensate this fall and prevent the total arc from shifting downward to a lower AP. In conclusion, upright tilt increases SNA by resetting the baroreflex neural arc. This resetting may compensate for the reduced pressor responses to SNA in the peripheral cardiovascular system and contribute to preventing postural hypotension.     

Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。