Psoriasis pathophysiology: current concepts of pathogenesis

Psoriasis vulgaris is a common skin disorder characterised by focal formation of inflamed, raised plaques that constantly shed scales derived from excessive growth of skin epithelial cells. The disease is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils, and other types of leucocyte in affected skin. In a relatively short period, psoriasis vulgaris has been conceptualised as a T lymphocyte mediated autoimmune disease and new biological therapies that target T cells have just entered routine clinical practice. Similarly, rapid progress has been made towards dissecting cellular and molecular pathways of inflammation that contribute to disease pathogenesis. This short review presents current pathogenic concepts that have emerged from genetic, genomic, and cellular information obtained in basic studies and from clinical studies of selective immune targeting drugs.     

Ureteric bupivicaine infusion for loin pain haematuria syndrome

INTRODUCTION

Loin pain haematuria syndrome is a common problem with complications including opiate dependence. Morbidity treatments include intra-ureteric capsaicin infusion, nephrectomy, autotransplantation and nephrolysis. We explored the use of flexible cystoscopic infusion of intra-ureteric bupivicaine.

PATIENTS AND METHODS

Patients presenting with chronic loin pain underwent urological and nephrological evaluation. Bupivicaine (0.5%, 20 ml) was infused via an intra-ureteric catheter under flexible cystoscopic guidance. Repeat infusions were offered if indicated.

RESULTS

Sixteen of 17 patients with 1-year follow-up responded and were satisfied. Twelve of these required repeat infusions (mean, 2.9 infusions). The procedures were well tolerated by all patients without adverse effects.

CONCLUSIONS

Intra-ureteric bupivicaine infusion has a place in the management of patients with chronic renal pain. It offers a minimally invasive alternative to other treatments. This procedure warrants further investigation within a randomised, controlled trial setting.     

Emergency contraception and the ethics of discussing it prior to the emergency

Illustrative cases are considered to show that, on ethical grounds, emergency contraception should be routinely included in discussions with patients about alternative methods of contraception.     

Rendu–Osler–Weber syndrome presenting with pulmonary arteriovenous fistula

A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu–Osler–Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5–15% of Rendu–Osler–Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49‐year‐old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X‐ray revealed a 5‐cm mass in the left lower lobe and after magnetic resonance examination, together with 3‐D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similiar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu–Osler–Weber syndrome presenting with a pulmonary arteriovenous fistula.     

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

OBJECTIVE: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. BACKGROUND: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. METHODS: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. RESULTS: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at theta = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. CONCLUSIONS: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.     

Reversible findings of restricted diffusion in 5‐flourouracil neurotoxicity

A 35‐year‐old woman presented with neurotoxicity correlated to an i.v. regimen of 5‐fluorouracil as episodes of acute confusional state and abnormalities of symmetrically restricted diffusion in the periventricular white matter and corpus callosum. On discontinuing the medication, the areas of severely restricted diffusion had entirely resolved, with minimal residual T2 signal abnormality. In this case, immediate discontinuation of the chemotherapeutic agent apparently reversed the patient's symptoms and findings on MRI. The scant information available in the published literature regarding this phenomenon is reviewed with regard to 5‐fluorouracil.     

在非裔美国人中用1％吡美莫司软膏治疗伴色素减退的脂溢性皮炎的先导性试验

背景:非裔美国人发生脂溢性皮炎时可伴色素减退。治疗通常应用皮质激素和抗真菌药,然而长期使用皮质激素可导致皮肤萎缩,眼内压增高,或加重色素减退。吡美莫司已被成功用于治疗一些脂溢性皮炎患者。目的:此开放性预试验用于评估吡美莫司治疗非裔美国人中伴色素减退的脂溢性皮炎