Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation. The atypical phenotype, the diagnosis of membranous nephropathy in the proband's native kidney biopsy, the late-onset and delayed recognition of the corneal opacification, the co-segregation with Gilbert syndrome and the late recurrence of the primary disease in kidney allograft all contributed to obscure the diagnosis of an LCAT deficiency syndrome for many years.A major teaching point is that on standard light microscopy examination the kidney biopsies of patients with LCAT deficiency with residual enzyme activity may not show significant vacuolization and may be misdiagnosed as membranous nephropathy. The cases of these two patients also illustrate the importance of performing detailed physical examination in young adults presenting with proteinuric CKD, as the most important clue to the diagnosis of FLD is in the eyes.

Impact of preformed donor-specific antibodies against HLA class I on kidney graft outcomes: Comparative analysis of exclusively anti-Cw vs anti-A and/or -B antibodies.

AIM: To analyze the clinical impact of preformed antiHLA-Cw vs antiHLA-A and/or -B donor-specific antibodies (DSA) in kidney transplantation. METHODS: Retrospective study, comparing 12 patients transplanted with DSA exclusively antiHLA-Cw with 23 patients with preformed DSA antiHLA-A and/or B. RESULTS: One year after transplantation there were no differences in terms of acute rejection between the two groups (3 and 6 cases, respectively in the DSA-Cw and the DSA-A-B groups; P = 1). At one year, eGFR was not significantly different between groups (median 59 mL/min in DSA-Cw group, compared to median 51 mL/min in DSA-A-B group, P = 0.192). Moreover, kidney graft survival was similar between groups at 5-years (100% in DSA-Cw group vs 91% in DSA-A-B group, P = 0.528). The sole independent predictor of antibody mediated rejection (AMR) incidence was DSA strength (HR = 1.07 per 1000 increase in MFI, P = 0.034). AMR was associated with shortened graft survival at 5-years, with 75% and 100% grafts surviving in patients with or without AMR, respectively (Log-rank P = 0.005). CONCLUSION: Our data indicate that DSA-Cw are associated with an identical risk of AMR and impact on graft function in comparison with "classical" class I DSA.

Men as victims of intimate partner violence.

INTRODUCTION: Intimate partner violence is an important worldwide problem. In general, men are considered perpetrators of this type of violence, but they can also be victims. The experience of men as victims of intimate partner violence is not yet described and characterized in Portugal. The aim of this study is to contribute to characterize this phenomenon to better understand it, including the temporary and permanent physical harm to men's health, in a medico-legal and forensic perspective. MATERIAL AND METHODS: This study is a retrospective analysis of 535 suspected cases of male victims of intimate partner violence, aged 18 years or older, observed in the Clinical Forensic Medicine Department of the North Branch of National Institute of Legal Medicine of Portugal, between 2007 and 2009. RESULTS: Over this period, 4646 suspected victims of intimate partner violence were examined; 11.5% (n = 535) of them were men. Male victims' age range was 18-89 years, with an average of 41 years; 61.5% were married; all of the documented cases had completed primary instruction; most of them were employed; 16.2% reported being victims of childhood abuse. The alleged perpetrators were all females; their age range was 19-81 years, with an average of 38 years; 9.3% had history of alcohol abuse and 12.1% had a psychiatric disorder; 11% claimed to have been abused in the childhood. Victims were married to the perpetrators in 63.9% of the cases; 81.6% had previous history of intimate partner violence, however, most of them did not report it to the authorities and only a minority sought medical care (8.1%) because of this previous abuses. Concerning the reported violent episode, the most common mechanisms of aggression were scratching (18.9%), punching (16.7%) and hit with a blunt object (16.6%). The most common injury was an abrasion; upper limbs were the most frequent injury's location; 96.1% healed in less than 9 days; 4.9% had sequelae (scars); 36.9% sought medical care. CONCLUSIONS: The reported cases of intimate partner violence against men represent 11.5% of the total of these cases observed in the medico-legal services of Porto. This number may be bigger because men tend to underreport and hide this kind of victimization, and also because injuries usually are mild (women perpetrate psychological abuse and minor acts of physical violence). Male victims may benefit from preventive and informative public policy campaigns.