Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis

Almaguer‐Mederosa LE, Falcón NS, Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz GS, Laffita‐Mesa J, Cyuz TM, Chang V, Auburger G, Gispert S, Pérez LV. Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis. Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular age as a function of a specific CAG repeat size, we have analyzed a large group of 924 individuals, including 394 presymptomatic and 530 affected individuals with a CAG repeat length of 32–79 units. Using a Kaplan–Meier survival analysis, we obtained cumulative probability curves for disease manifestation at a particular age for each CAG repeat length in the 34–45 range. These curves were significantly different (p < 0.001) and showed small overlap. All these information may be very valuable in predictive‐testing programs, in the planning of studies for the identification of other genetic and environmental factors as modifiers of age at onset, and in the design of clinical trials for people at enlarged risk for SCA2.     

Cerebral hyperperfusion syndrome post‐carotid artery stenting

Cerebral hyperperfusion syndrome is increasingly recognized as a complication in carotid artery stenting for severe internal carotid artery stenosis. This study reviews the cases of hyperperfusion syndrome occurring after this procedure. We reviewed our database of 170 cases of internal carotid artery stenting carried out at our hospital between January 1999 and June 2006. A radiology search was also carried out to identify those who had CT or MRI within 1 month of post‐carotid artery stenting. We had four patients who developed cerebral hyperperfusion syndrome. One patient developed cerebral oedema, one patient had petechial intracerebral haemorrhage and two patients had large intracerebral haemorrhages, one of whom died. This gives a risk of 2.3% (95% confidence interval 2.27–2.323). All patients with cerebral haemorrhage presented within 6 h. Both patients with large intracerebral haemorrhage had carotid stenting within 3 weeks after presentation of symptoms and all had critically severe stenosis of 95% or more. In our series, large intracerebral haemorrhage has occurred only in patients who have been treated early. Cerebral hyperperfusion is an uncommon but serious complication post‐carotid stenting. Further studies comparing early treatment of endarterectomy and carotid stenting are awaited.     

24 hour blood pressure monitoring in healthy and hypertensive children

24 Hour ambulatory blood pressure monitoring (ABPM) was performed to provide data on the normal daily blood pressure of healthy schoolchildren and on patients with hypertension. The subjects studied were 123 healthy schoolchildren with a mean (SD) age of 12.5 (1.6) years (range 9.5-14.5 years), 24 children with borderline or mild hypertension, 17 with renal hypertension and normal renal function, 10 with chronic renal failure, and six with a renal allograft. In eight children with definite renal disease a second measurement was performed after treatment modification. The monitor used for ABPM was validated with a mercury column manometer. The mean (SD) of the signed differences of the blood pressure measured by the two methods was -0.19 (1.75) mmHg for the systolic and -0.21 (2.11) mmHg for the diastolic blood pressure (n = 60). Normal values for daytime and night time blood pressure were determined for those aged 10-14 years. The mean (SD) blood pressure of the 123 children was 109 (7)/66 (8) mmHg (systolic/diastolic) for the daytime and 96 (8)/52 (7) mmHg at night time. Of the 24 children with borderline or mild hypertension 14 had a raised blood pressure on ABPM. The circadian rhythm was disturbed in three children of this group. Even children with normal daytime blood pressure had significantly higher systolic blood pressure in the night when compared with the controls. The incidence of disturbed circadian rhythm was higher in the groups with renal hypertension (4/17 in the subgroup with normal renal function, 5/16 in the group with renal failure and/or transplantation). All children undergoing a second ABPM measurement had a lower average blood pressure after treatment adjustment. ABPM measurements were reproducible and accurate. The method provided new data on the physiological circadian variation of blood pressure in healthy children. It proved to be a helpful tool in the diagnosis of hypertension, particularly in the detection of cases of disturbance of the circadian rhythm of blood pressure pattern and individual adjustment of treatment.     

Hypercoagulable State

Background

The hypercoagulable state results from a complex interplay of blood coagulation factors, coagulation-inhibitory factors, platelets and the vascular endothelium. Imbalance of the complex interplay between these factors results in thrombosis often complicated by embolism. The causes of thrombosis are varied and maybe congenital or acquired. The current interest is centered on the congenital deficiency of coagulation inhibitors as there is an increasing awareness of their involvement in thrombosis, especially in the young.

Methods

A total of 42 patients with thrombosis were studied. The most common clinical presentation was deep vein thrombosis. All the cases were evaluated for coagulation inhibitors Antithrombin, resistance to activated protein C, Protein C and Protein S using standard assay kits.

Results

Resistance to activated protein C (n=10) was seen to be the commonest cause of thrombophilia. This was followed by deficiency of Antithrombin (n-4), Protein C (n=3) and Protein S (n=2). Majority of our cases were in the third decade of life.

Conclusion

The identification of the underlying aetiology is important for instituting specific therapy and patient management.Key Words: Thrombophilia, Coagulation inhibitors     

HMBA对K562巨噬细胞样分化过程中细胞周期的影响

0　引言　 K6 5 2细胞系建立于慢性髓性白血病患者胸水 ,它可在多种分化诱导剂的诱导下向红细胞系 [1 ] 和巨核细胞系[2 ]分化 .最近有人 [3 ] 报道 K5 6 2细胞在诱导剂 Hexamethylenebisacetamide(HMBA)诱导下可向巨噬细胞样分化 .但在分化中 HMBA对 K5 6 2细胞增殖的影响如何 ,尚未见文献报道1　材料和方法1.1　诱导方法　白血病细胞系 K5 6 2由本校免疫学教研室金伯泉主任惠赠 .HMBA购自 Sigma公司 ,水溶后配制为0 .5 mol· L- 1 .培养 K5 6 2细胞至对数生长期 ,加 HMBA至培养液中 ,作用浓度为 5 mmol·L- 1 ,继续培养 7d后用…     

Intracranial tumours during the first two years of life: presenting features

Between 1979 and 1994, 21 children (nine females, 12 males) with intracranial tumours diagnosed before the age of 2 years (range 2-23 months) were treated at the University Hospital of Wales. The commonest presenting symptoms were vomiting (n = 9) and unsteadiness (n = 8); the commonest presenting sign was enlarged occipitofrontal circumference (> 97th centile in 16 and > 90th centile in a further two). In five cases with signs of raised intracranial pressure, meningitis was the clinical diagnosis, and a lumbar puncture was performed. For cases with long delays in diagnosis, multiple other disorders had been considered and the significance of head enlargement had not been recognised. In very early childhood, intracranial tumours are uncommon and can mimic other disorders, especially meningitis. Early neuroimaging is advised when a child presents with recent onset of neurological symptoms and a disproportionately large head.     

IN VITRO COMPARATIVE ACTIVITY OF EIGHT ANTIPSEUDOMONAL AGENTS

Five hundred and thirty strains of Pseudomonas aeruginosa isolated from indoor patients were tested against three chemical groups comprising eight antibiotics. High degree of resistant strains ranging from 38.0% to 61.8% were seen against carbenicillin, piperacillin and gentamicin. However amikacin, ciprofloxacin, ceftazidime, netilmicin and norfloxacin showed comparatively better activity with resistant strains ranging from 7.8% to 22.8%. A notably higher rate of resistance was seen in urinary isolates.KEY WORDS: Pseudomonas, Beta-lactams, Aminoglycosides, Quinolones     

Clinical evaluation of 0.5% ferric hyaluronate adhesion prevention gel for the reduction of adhesions following peritoneal cavity surgery: open-label pilot study

The objective of this study was to assess the safety and to make a preliminary assessment of the efficacy of 0.5% ferric hyaluronate adhesion prevention gel in reducing adhesions in patients undergoing peritoneal cavity surgery by laparotomy, with a planned 'second-look' laparoscopy. The study was a randomized, open-label, placebo- controlled, parallel-group design in patients desirous of fertility at the Women's and Children's Hospital, Department of Obstetrics and Gynecology, University of Southern California School of Medicine, Los Angeles, California. Female patients aged 24 to 41 years received 300 ml 0.5% ferric hyaluronate adhesion prevention gel or lactated Ringer's solution as an intraperitoneal instillate at the completion of the laparotomy procedure. At second-look laparoscopy 4-12 weeks after the laparotomy, the presence of adhesions was evaluated. Haematology and serum chemistry were determined throughout the study interval. All patients tolerated the procedures well and did not manifest any serious adverse events. At second-look laparoscopy, patients treated with 0.5% ferric hyaluronate adhesion prevention gel had significantly fewer adhesions than control patients. When adhesions did form, they were significantly less extensive and less severe in patients who received 0.5% ferric hyaluronate adhesion prevention gel. In conclusion, 0.5% ferric hyaluronate adhesion prevention gel was safe and highly efficacious in the reduction of the number, severity and extent of adhesions throughout the entire abdomen following peritoneal cavity surgery.      

Linkage disequilibrium mapping of the Nova Scotia variant of Niemann–Pick disease

Niemann-Pick type D (NPD) disease is a severe degenerative disorder of the nervous system characterized by the accumulation of tissue cholesterol and sphingomyelin. Because of a founder effect, it is unusually common in southwestern Nova Scotia, Canada. We have confirmed that almost all patients from 20 affected sibships descended on both sides from a small group of Acadians who settled in this region in about the year 1767. Previously using classic linkage analysis of this large kindred, we defined the critical gene region to a 13-cM chromosome segment between D18S869 and D18S66. Seven ESTs have been positioned within this interval. Carstea et al. (Niemann Pick C disease gene: homology to mediators of cholesterol homeostasis. Science 1997: 277: 232-235) recently demonstrated that one of these ESTs is the Niemann-Pick type C (NPCI) gene, the gene disrupted in most patients with NPC disease, and we have shown that a G3097-->T mutation in the NPC1 gene is also responsible for NPD. Here we report the development of five new polymorphic microsatellite markers and the testing for complete linkage disequilibrium in our single large NPD kindred that allowed us to reduce the NPD critical region to a 1-cM (1.3-1.6 Mb) interval between D18S1398 and D18S1108. In contrast, Carstea et al., using classic linkage analysis, required more than 18 unrelated NPC families to reduce the NPC1 critical region to a 5-cM interval. Our work supports the finding that NPD is an allelic variant of NPC1, and illustrates the power of large kindreds, which are common in Atlantic Canada and other relatively isolated areas, for gene mapping and identification.