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1.  Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk 
Archives of Dermatological Research  2013;306(3):231-238.
Psoriasis vulgaris is a genetically heterogenous disease with unclear molecular background. We assessed the association of psoriasis and its main clinical phenotypes with common variants of three potential psoriasis susceptibility genes: ZNF750, RPTOR and TRAF31P2. We genotyped 10 common variants in a cohort of 1,034 case–control individuals using Taqman genotyping assays and sequencing. Minor alleles of all four TRAF3IP2 variants were more frequent among cases. The strongest, significant association was observed for rs33980500 (OR = 2.5, p = 0.01790). Minor allele of this SNP was always present in two haplotypes found to be associated with increased psoriasis risk: rs13196377_G + rs13190932_G + rs33980500_T + rs13210247_A (OR = 2.7, p = 0.0054) and rs13196377_A + rs13190932_A + rs33980500_T + rs13210247_G (OR = 1.8, p = 0.0008). Analyses of clinically relevant phenotypes revealed association of rs33980500 with pustular psoriasis (OR = 1.2, p = 0.0109). We observed significant connection of severity of cutaneous disease with variation at rs13190932 and suggestive with three remaining TRAF3IP2 SNPs. Another positive associations were found between age of onset and familial aggregation of disease: smoking and younger age of onset, smoking and occurrence of pustular psoriasis, nail involvement and arthropatic psoriasis, nail involvement and more severe course of psoriasis. We found no statistically significant differences in the prevalence of the examined variants of RPTOR and ZNF750 genes among our cases and controls. We have replicated the association of TRAF3IP2-_rs33980500 variant with the susceptibility to psoriasis. We have found new associations with clinically relevant subphenotypes such as pustular psoriasis or moderate-to-severe cases. We ascertain no connection of RPTOR and ZNF750 variants with psoriasis or its subphenotypes.
Electronic supplementary material
The online version of this article (doi:10.1007/s00403-013-1407-9) contains supplementary material, which is available to authorized users.
PMCID: PMC3955134  PMID: 24005976
Psoriasis vulgaris; TRAF3IP2; ZNF750; RPTOR
4.  Idiopathic Lingual Artery Aneurysm: CT Findings and Endovascular Therapy 
Interventional Neuroradiology  2010;16(1):103-106.
We describe a 65-year-old woman with an asymptomatic idiopathic lingual artery aneurysm which is suspected to be congenital. We review the literature on external carotid artery branch aneurysms, diagnostic evaluation and discuss treatment options for the various types and the specific chosen in the case presented.
PMCID: PMC3277968  PMID: 20377988
lingual artery aneurysm, external carotid artery branch aneurysm, transcatheter embolization
5.  Phase II trial of short-term neoadjuvant docetaxel and complete androgen blockade in high-risk prostate cancer 
British Journal of Cancer  2009;101(8):1248-1252.
The low probability of curing high-risk prostate cancer (PC) with local therapy suggests the need to study modality of therapeutic approaches. To this end, a prospective phase II trial of neoadjuvant docetaxel (D) and complete androgen blockade (CAB) was carried out in high-risk PC patients. The primary end point was to detect at least 10% of pCRs after chemohormonal treatment.
Patients with T1c–T2 clinical stage with prostate-specific antigen (PSA) >20 ng ml−1 and/or Gleason score ⩾7 (4+3) and T3 were included. Treatment consisted of three cycles of D 36 mg m−2 on days 1, 8 and 15 every 28 days concomitant with CAB, followed by radical prostatectomy (RP).
A total of 57 patients were included. Clinical stage was T1c, 11 patients (19.3%); T2, 30 (52.6%) and T3, 16 (28%) patients. Gleason score was ⩾7 (4+3) in 44 (77%) patients and PSA >20 ng ml−1 in 15 (26%) patients. Treatment was well tolerated with 51 (89.9%) patients completing neoadjuvant therapy together with RP. The rate of pCR was 6% (three patients). Three (6%) additional patients had microscopic residual tumour (near pCR) in prostate specimen. With a median follow-up of 35 months, 18 (31.6%) patients presented PSA relapse.
Short-term neoadjuvant D and CAB induced a 6% pCR rate, which is close to what would be expected with ADT alone. The combination was generally well tolerated.
PMCID: PMC2768456  PMID: 19755998
prostate cancer; high risk; neoadjuvant therapy; docetaxel
6.  Pediatric Thoraco-lumbar Paraspinal Arteriovenous Fistulas along the Segmental Nerve 
Interventional Neuroradiology  2006;12(Suppl 1):158-162.
To characterize the clinical presentation, imaging features and endovascular treatment of paraspinal non-vertebral arteriovenous fistulas along the segmental nerve.
Retrospective review was performed on the five patients identified in our database covering 1985 to 2003. All patients presented with an incidentally found continuous murmur over the upper paraspinal or parasternal regions before three years old. In four patients, the AV fistula was in the mid-thoracic level and at L3 in one. All AV fistulas were a high-flow single-hole fistula at the neural foramen with venous drainage into paraspinal and epidural veins without intradural reflux. All fistulas were endovascularly occluded in the same session as the diagnostic angiography. The fistula was occluded with detachable coils in one case and with N-butyl-cyanoacrylate (NBCA) with flow control in four cases. Complete occlusion of the fistula was obtained in all cases and all patients remained neurologically intact at the last follow up (average six years). Non-vertebral paraspinal arteriovenous fistula along the segmental nerve is a specific disease entity seen in children. Embolization is the first choice of treatment for this disease.
PMCID: PMC3387945  PMID: 20569623
paraspinal arteriovenous fistula, pediatrics, nerve
7.  Prognostic factors influencing the outcome in pneumocystis carinii pneumonia in patients with AIDS. 
Thorax  1995;50(6):668-671.
BACKGROUND--Studies attempting to identify the prognostic factors that influence the outcome of Pneumocystis carinii pneumonia (PCP) in patients with AIDS using a multivariate analysis are few. In order to identify those prognostic factors amenable to medical intervention, univariate and multivariate analyses were performed on 102 patients with AIDS suffering a first episode of PCP. METHODS--One hundred and two consecutive patients with AIDS (51% drug abusers, 45% homosexuals, and 4% with other HIV risk factors) admitted to our institution between 1986 and 1989 whose respiratory infection was diagnosed by bronchoalveolar lavage were studied prospectively. RESULTS--The overall mortality was 28%, rising to 79% in those patients who required mechanical ventilation. According to univariate analysis the following variables were related to a poor prognosis: age > 35 years; risk factor for HIV infection other than drug abuse; and AIDS diagnosis confirmed before 1988; PaO2 < 8 kPa at admission; severe acute respiratory failure on admission (PaO2/FIO2 < 20 kPa); mechanical ventilation; antibiotic therapy for PCP other than trimethoprim-sulphamethoxazole; multiple microbial pulmonary infection; serum lactate dehydrogenase (LDH) > 22.5 mukat/l on admission; serum albumin level < 30 g/l. Multivariate analysis showed that only mechanical ventilation was independently associated with a poor outcome. CONCLUSIONS--The mortality of AIDS patients presenting with a first episode of PCP before 1990 was high (28%). The main prognostic factor associated with poor outcome was the requirement for mechanical ventilation due to severe acute respiratory failure.
PMCID: PMC1021269  PMID: 7638811
8.  Utility of C-erbB-2 in tissue and in serum in the early diagnosis of recurrence in breast cancer patients: comparison with carcinoembryonic antigen and CA 15.3. 
British Journal of Cancer  1996;74(7):1126-1131.
To evaluate the utility of c-erbB-2, carcinoembryonic antigen (CEA) and CA 15.3 in the early diagnosis of recurrence, serial serum determinations of these antigens were performed in 200 patients (follow-up 1-4 years, mean 2.2 years) with primary breast cancer and no evidence of residual disease (NED) after radical treatment (radical mastectomy or simple mastectomy and radiotherapy). Eighty-nine patients developed metastases during follow-up. C-erbB-2, CEA and CA 15.3 were elevated (> 20 U ml-1, > 10 ng ml-1 or > 60 U ml-1 respectively) before diagnosis in 28%, 30% and 47% of the 89 patients with recurrence, with a lead time of 4.5 +/- 2.4, 4.9 +/- 2.4 and 4.8 +/- 2.4 months respectively. Tumour marker sensitivity was clearly related to the site of recurrence, with the lowest sensitivity found in locoregional relapse and the highest in patients with liver metastases. When patients with locoregional recurrences were excluded, sensitivity improved: 31% (c-erbB-2), 33% (CEA) and 56% (CA 15.3), with 76% having at least one of the three tumour markers. C-erbB-2 sensitivity in early diagnosis was significantly higher in patients with c-erbB-2 overexpression in tissue (8/10, 80%) than in those without overexpression (1/30, 3.3%) (P = 0.0001). Likewise, higher levels of both, c-erbB-2 and CA 15.3 at diagnosis of recurrence, higher sensitivity in early diagnosis of relapse and a higher lead time were found in PR+ patients (CA 15.3, P < 0.0001) or in PR- patients (c-erbB-2, P = 0.009). Specificity of the tumour markers was 100% for all three markers (111 NED patients). In conclusion, c-erbB-2 is a useful tool for early diagnosis of metastases, mainly in those patients with c-erbB-2 overexpression in tissue. Using all three markers simultaneously it is possible to increase the sensitivity in the early diagnosis of recurrence by 11.2%.
PMCID: PMC2077122  PMID: 8855986
10.  Antihypertensive efficacy of alpha-methyldopa, chlorothiazide and Supres-150 (alpha-methyldopa-chlorothiazide). 
Twenty-two white men and two white women with uncomplicated essential hypertension participated in a randomized double-blind trial comparing placebo with alpha-methyldopa (750 mg/d orally) and chlorothiazide (450 mg/d orally), alone or in combination. There were no significant differences in blood pressures as measured with the patients lying down; however, with the patients standing the systolic, diastolic and mean arterial blood pressures were significantly lower (P < 0.05) after treatment with alpha-methyldopa or the combination product. The higher the blood pressure before treatment, the greater the fall with treatment. Adverse effects were infrequent.
PMCID: PMC1704774  PMID: 7020900
11.  Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family. 
In one family two genetic diseases were transmitted as autosomal dominant traits; hereditary angioneurotic edema was inherited from the paternal side and Charcot-Marie Tooth disease from the maternal side of the family. The conditions occurred separately in 8 and 11 members respectively and together (an exceedingly rare occurrence) in 3. Of six siblings, two girls and four boys, all had Charcot-Marie-Tooth disease, and three, the two girls and one of the boys, also had hereditary angioneurotic edema.
PMCID: PMC1818506  PMID: 688147
12.  Fatal self-poisoning with lithium carbonate. 
In a fatal case of self-poisoning with lithium carbonate there was a progressive increase in serum lithium concentration for 48 hours after ingestion of the overdose. It is suggested that the continuous increase in serum lithium concentration reflects prolonged absorption of lithium from relatively insoluble aggregates of lithium carbonate in the gastrointestinal tract. In this case there was an interval of 45 hours between ingestion of the overdose and the onset of central nervous system depression. Simultaneous peritoneal dialysis and hemodialysis were effective in rapidly reducing the serum lithium concentration but there was little concomitant change in the patient's level of consciousness. The terminal event was a respiratory complication of the comatose state.
PMCID: PMC1958962  PMID: 1122460

Results 1-12 (12)