Cooking, Shopping, and Eating Behaviors of African American and Hispanic Families: Implications for a Culturally Appropriate Meal Kit Intervention.

Families with low incomes face barriers to preparing healthy meals, including decreased food access and limited time, and may turn to fast, low-quality, and inexpensive foods. Affordable and accessible meal kits may reduce these barriers. The objective of this study was to explore the cooking, eating, and shopping behaviors of African American (AA) and Hispanic participants living in the United States with low incomes and determine the knowledge of and preferences for a culturally appropriate meal kit intervention. Trained researchers conducted focus groups using a semi-structured questionnaire with AA and Hispanic food preparers with low incomes. Participant cooking, eating, and shopping behaviors and knowledge of and preferences for a culturally appropriate meal kit intervention were evaluated using thematic analysis. AA participants (n = 16) reported cooking on average 2 to 3 days per week and more often on weekends. Hispanic participants (n = 15) reported cooking 5 days per week and more often during the week. Both groups identified cost as the number one consideration when shopping. Most were unfamiliar with meal kits but indicated they would try an affordable meal kit. AA and Hispanic participants differed in their cooking, eating, and shopping behaviors but were equally interested in trying meal kits if affordable and culturally appropriate.

The trabecular bone score is associated with bone mineral density, markers of bone turnover and prevalent fracture in patients with end stage kidney disease.

Fracture risk increases in end-stage kidney disease (ESKD), but bone mineral density (BMD) measurement is less predictive of risk than in the general population. In this study of patients with ESKD, a lower trabecular bone score (TBS), indicative of microarchitectural deterioration, was associated with higher bone turnover markers and prevalent non-vertebral fracture. INTRODUCTION: Declining renal function carries increased fracture risks, but BMD is less predictive of fracture for dialysis patients than the general population. The TBS, obtained from lumbar spine dual-energy X-ray absorptiometry (DXA) images, provides information on microarchitectural integrity not captured by BMD. The aim of this study was to assess associations of the TBS to clinical, DXA, radiological, and laboratory measures in patients with ESKD undergoing kidney and simultaneous pancreas kidney (SPK) transplantation. METHODS: A total of 147 patients with ESKD underwent pre-transplant laboratory testing, DXA, lateral spine X-ray, and structured history within 4 weeks of transplantation. Associations of the TBS to demographic data, prevalent fracture, BMD, and laboratory variables were assessed. RESULTS: Of 147 patients (60% male, mean age 48 ± 13 years), 36% had diabetes mellitus (DM) and 54 patients had fractures: 21 prevalent vertebral fractures only, 22 non-vertebral fractures only, and 11 had both. The mean TBS (1.345 ± 0.125) was lower in patients undergoing SPK than kidney-only transplants (1.292 vs. 1.364, p = 0.001). The TBS correlated to spine and total hip BMD, body mass index and inversely to parathyroid hormone, alkaline phosphatase and procollagen 1 N-propeptide. By multivariable logistic regression, lower TBS was significantly associated to prior non-vertebral fracture (p = 0.026). CONCLUSIONS: A lower TBS, suggestive of increased microarchitectural damage, was associated with type 1 DM, markers of higher bone turnover, and prevalent fracture. These data support the need for prospective studies to evaluate whether TBS inclusion improves fracture prediction in patients with ESKD.

Worsening of soft tissue dystrophic calcification in an osteoporotic patient treated with teriparatide.

Teriparatide, used for treatment of osteoporosis in patients at high risk of fracture risk, sometimes results in mild and transient hypercalcemia. There have been two recent reports of worsening dystrophic calcification in patients with autoimmune disorders following teriparatide treatment. We report a patient with severe osteoporosis and without a pre-existing autoimmune disorder, who developed symptomatic worsening of dystrophic calcification 4 months after teriparatide was initiated. Symptoms resolved within 1 week of teriparatide cessation.

Multidrug-resistant surgical site infections in a humanitarian surgery project.

The epidemiology of surgical site infections (SSIs) in surgical programmes in sub-Saharan Africa is inadequately described. We reviewed deep and organ-space SSIs occurring within a trauma project that had a high-quality microbiology partnership and active follow-up. Included patients underwent orthopaedic surgery in Teme Hospital (Port Harcourt, Nigeria) for trauma and subsequently developed a SSI requiring debridement and microbiological sampling. Data were collected from structured chart reviews and programmatic databases for 103 patients with suspected SSI [79% male, median age 30 years, interquartile range (IQR) 24-37]. SSIs were commonly detected post-discharge with 58% presenting >28 days after surgery. The most common pathogens were: Staphylococcus aureus (34%), Pseudomonas aeruginosa (16%) and Enterobacter cloacae (11%). Thirty-three (32%) of infections were caused by a multidrug-resistant (MDR) pathogen, including 15 patients with methicillin-resistant S. aureus. Antibiotics were initiated empirically for 43% of patients and after culture and sensitivity report in 32%. The median number of additional surgeries performed in patients with SSI was 5 (IQR 2-6), one patient died (1%), and amputation was performed or recommended in three patients. Our findings suggest the need for active long-term monitoring of SSIs, particularly those associated with MDR organisms, resulting in increased costs for readmission surgery and treatment with late-generation antibiotics.

Tauopathy PET and amyloid PET in the diagnosis of chronic traumatic encephalopathies: studies of a retired NFL player and of a man with FTD and a severe head injury.

Single, severe traumatic brain injury (TBI) which elevates CNS amyloid, increases the risk of Alzheimer's disease (AD); while repetitive concussive and subconcussive events as observed in athletes and military personnel, may increase the risk of chronic traumatic encephalopathy (CTE). We describe two clinical cases, one with a history of multiple concussions during a career in the National Football League (NFL) and the second with frontotemporal dementia and a single, severe TBI. Both patients presented with cognitive decline and underwent [(18)F]-Florbetapir positron emission tomography (PET) imaging for amyloid plaques; the retired NFL player also underwent [(18)F]-T807 PET imaging, a new ligand binding to tau, the main constituent of neurofibrillary tangles (NFT). Case 1, the former NFL player, was 71 years old when he presented with memory impairment and a clinical profile highly similar to AD. [(18)F]-Florbetapir PET imaging was negative, essentially excluding AD as a diagnosis. CTE was suspected clinically, and [(18)F]-T807 PET imaging revealed striatal and nigral [(18)F]-T807 retention consistent with the presence of tauopathy. Case 2 was a 56-year-old man with personality changes and cognitive decline who had sustained a fall complicated by a subdural hematoma. At 1 year post injury, [(18)F]-Florbetapir PET imaging was negative for an AD pattern of amyloid accumulation in this subject. Focal [(18)F]-Florbetapir retention was noted at the site of impact. In case 1, amyloid imaging provided improved diagnostic accuracy where standard clinical and laboratory criteria were inadequate. In that same case, tau imaging with [(18)F]-T807 revealed a subcortical tauopathy that we interpret as a novel form of CTE with a distribution of tauopathy that mimics, to some extent, that of progressive supranuclear palsy (PSP), despite a clinical presentation of amnesia without any movement disorder complaints or signs. A key distinguishing feature is that our patient presented with hippocampal involvement, which is more frequently seen in CTE than in PSP. In case 2, focal [(18)F]-Florbetapir retention at the site of injury in an otherwise negative scan suggests focal amyloid aggregation. In each of these complex cases, a combination of [(18)F]-fluorodeoxyglucose, [(18)F]-Florbetapir and/or [(18)F]-T807 PET molecular imaging improved the accuracy of diagnosis and prevented inappropriate interventions.

A case report of disabling bone pain after long-term kidney transplantation.

A 77-year-old man, who received a renal transplant 13 years before for IgA glomerulonephritis, was referred after he developed bilateral mid-tibial aching pain that did not improve with simple analgesia. He had recently been changed from low-dose cyclosporine to tacrolimus, but the pain did not improve when this was reversed. He had a history of focal prostatic adenocarcinoma, cryptococcal lung infection, osteoporosis treated with alendronate for 2 years and multiple squamous cell carcinomas, including one requiring left neck dissection and radiotherapy. Upon physical examination, he had gouty tophi and marked bilateral tibial tenderness but had no other clinical findings. Laboratory investigations included an elevated intact parathyroid hormone value of 7.9 pmol/L (1.6 to 6.9), bone specific alkaline phosphatase of 22 µg/L (3.7 to 20.9), urinary deoxypyridinoline/creatinine ratio of 7.2 nmol/mmol (2.5 to 5.4) and C-reactive protein. Chest X-ray and tibial X-rays were normal, but there was marrow oedema and a prominent periosteal reaction on magnetic resonance imaging. A radionuclide bone scan showed increased symmetrical, linear uptake in both tibiae and the left femur, and uptake was also noted in both clinically asymptomatic humeri. Tibial bone biopsy disclosed small deposits of poorly differentiated metastatic cancer and a follow-up chest CT revealed a lung lesion. It was concluded that the bone pain and periostitis was caused by primary lung cancer with metastatic disease to bone, and an associated hypertrophic osteoarthropathy.

Risk factors for cholera transmission in Haiti during inter-peak periods: insights to improve current control strategies from two case-control studies.

Two community-based density case-control studies were performed to assess risk factors for cholera transmission during inter-peak periods of the ongoing epidemic in two Haitian urban settings, Gonaives and Carrefour. The strongest associations were: close contact with cholera patients (sharing latrines, visiting cholera patients, helping someone with diarrhoea), eating food from street vendors and washing dishes with untreated water. Protective factors were: drinking chlorinated water, receiving prevention messages via television, church or training sessions, and high household socioeconomic level. These findings suggest that, in addition to contaminated water, factors related to direct and indirect inter-human contact play an important role in cholera transmission during inter-peak periods. In order to reduce cholera transmission in Haiti intensive preventive measures such as hygiene promotion and awareness campaigns should be implemented during inter-peak lulls, when prevention activities are typically scaled back.

Increased expression of receptor phosphotyrosine phosphatase-ß/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes.

Schizophrenia is a serious and chronic mental disorder, in which both genetic and environmental factors have a role in the development of the disease. Neuregulin-1 (NRG1) is one of the most established genetic risk factors for schizophrenia, and disruption of NRG1 signaling has been reported in this disorder. We reported previously that NRG1/ErbB4 signaling is inhibited by receptor phosphotyrosine phosphatase-ß/ζ (RPTP ß/ζ) and that the gene encoding RPTPß/ζ (PTPRZ1) is genetically associated with schizophrenia. In this study, we examined the expression of RPTPß/ζ in the brains of patients with schizophrenia and observed increased expression of this gene. We developed mice overexpressing RPTPß/ζ (PTPRZ1-transgenic mice), which showed reduced NRG1 signaling, and molecular and cellular changes implicated in the pathogenesis of schizophrenia, including altered glutamatergic, GABAergic and dopaminergic activity, as well as delayed oligodendrocyte development. Behavioral analyses also demonstrated schizophrenia-like changes in the PTPRZ1-transgenic mice, including reduced sensory motor gating, hyperactivity and working memory deficits. Our results indicate that enhanced RPTPß/ζ signaling can contribute to schizophrenia phenotypes, and support both construct and face validity for PTPRZ1-transgenic mice as a model for multiple schizophrenia phenotypes. Furthermore, our results implicate RPTPß/ζ as a therapeutic target in schizophrenia.

Association between 25-hydroxyvitamin D, somatic muscle weakness and falls risk in end-stage renal failure.

OBJECTIVE: Suboptimal levels of 25-hydroxyvitamin D (25OHD) are common in haemodialysis patients (Chronic Kidney disease-5D: CKD-5D) and may be associated with reduced muscle strength and increased falls risk. We tested the hypothesis that 25OHD levels may be independently associated with falls risk in CKD-5D. BACKGROUND: Supplementation with calcium and cholecalciferol reduces hip and other nonvertebral fractures in elderly individuals, and this effect may in part be attributable to reduction in falls frequency. The relationship between 25OHD and falls risk has not been investigated in CKD-5D. DESIGN AND PATIENTS: This is a cross-sectional study of 25 CKD-5D patients with predialysis 25OHD, 1,25-dihydroxyvitamin D (1,25(OH)(2)D) and intact parathyroid hormone (iPTH) measurement. Falls risk was assessed by quadriceps muscle strength, FallsScreen((c)) test (FST), Berg Balance Scale (BBS), timed 'up and go' (TUG) test, Modified Barthel Index (MBI) and Falls Efficacy Scale (FES). RESULTS: Mean age was 69.8 +/- 12.1 years, and median time on dialysis was 3.1 years. Median 25OHD level was 55.3 nmol/l (range 20.8-125.8 nmol/l). Muscle strength was significantly positively correlated with 25OHD (P = 0.024) but not with 1,25(OH)(2)D (P = 0.477) or PTH (P = 0.461). Statistically significant correlation between 25OHD levels and FST (P = 0.028) plus MBI (P = 0.0046) was noted. No significant correlation was detected between falls risk and 1,25(OH)(2)D or PTH. CONCLUSIONS: Suboptimal levels of 25OHD in CKD-5D are associated with reduced quadriceps muscle strength and increased falls risk. 25OHD may be more important than the active renal metabolite 1,25(OH)(2)D for muscle strength with implications for vitamin D choice and goals of supplementation. Further investigation is required to examine effectiveness of calciferol supplementation on the incidence of falls in CKD-5D.

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

BACKGROUND: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosis and knowledge of patterns of inheritance. OBJECTIVES: To investigate the molecular epidemiology of EPP in the U.K. METHODS: DNA samples from 191 unrelated patients resident in the U.K. were analysed for mutations in the FECH and ALAS2 genes and for the FECH IVS3-48 dimorphism. RESULTS: Mutations were identified in 179 (94%) patients. Most (169; 94%) had a FECH mutation on one allele and were classified as having pseudodominant EPP (psdEPP); seven (4%) patients had FECH mutations on both alleles (autosomal recessive EPP) and three (2%) patients had ALAS2 mutations (X-linked dominant protoporphyria). The FECH IVS3-48C allele was strongly associated with psdEPP and with the absence of mutations at the FECH or ALAS2 loci. Fifty-six FECH mutations were identified, 19 being previously unreported. Missense mutations were predominant in autosomal recessive EPP (82%) but not in psdEPP (32%). One mutation (c.314 + 2T>G) was present in 41 (24%) of EPP families, most of whom appeared to be descended from a common ancestor resident in the north of England. CONCLUSIONS: These data define the prevalence and molecular epidemiology of each type of EPP in the U.K.

The molecular genetics of erythropoietic protoporphyria.

Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients have ferrochelatase (FECH) deficiency (MIM 177000) while about 2% have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in the ALAS2 gene. Most FECH-deficient patients are compound heterozygotes for a hypomorphic allele (FECH IVS3-48C) and a deleterious FECH mutation that together lower FECH activity to around 30% of normal. The frequency of the IVS3-48C allele varies between populations, ranging from less than 1% to 45%. About 4% of unrelated FECH-deficient patients are compound heterozygotes or homozygotes for rare FECH mutations and have lower enzyme activities. Acquired somatic mutation of FECH secondary to myeloid disease may rarely cause EPP. The risk of liver disease is increased in XLDPP and in FECH-deficient patients who are hetero- or homoallelic for rare FECH mutations. Inherited FECH-deficient EPP is an autosomal recessive disorder with some families showing pseudodominant inheritance; the proportion of such families being determined by the population frequency of the IVS3-48C allele.

Serum 25-hydroxyvitamin D in erythropoietic protoporphyria.

BACKGROUND: Vitamin D, produced by the action of sunlight on skin, is an important hormone for calcium homeostasis and has been implicated as tumour-protective agent. Some previous studies of photosensitive patients who actively avoid sunlight have failed to show convincing evidence of vitamin D insufficiency. OBJECTIVES: The aim of this study was to characterize the vitamin D status of a large cohort of patients with erythropoietic protoporphyria (EPP). METHODS: U.K. patients with EPP were recruited prospectively and seen locally by a single study investigator. A blood sample was taken for vitamin D assay. All blood analyses were performed in the same laboratory. RESULTS: A cohort of 201 patients with known EPP was seen over a 7-month period between January and July. Thirty-four patients (17%) were deficient in vitamin D and 126 (63%) had insufficient vitamin D. Both insufficiency and deficiency were significantly associated with the total erythrocyte protoporphyrin concentration and inversely with the time in minutes to the onset of symptoms following sunlight exposure. CONCLUSIONS: This is the first report of significant levels of vitamin D deficiency and insufficiency in a large cohort of patients with a photodermatosis. Such individuals are at risk of associated adverse events. In future, clinicians should consider monitoring 25-hydroxyvitamin D levels and instigating oral supplementation or dietary advice if appropriate.

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requires inheritance of a severe FECH mutation trans to a low-expression FECH variant (FECH IVS3-48C), which is present in 13% of the U.K. population. Reduced FECH activity leads to accumulation of protoporphyrin in various tissues. An excess amount of free protoporphyrin in the skin causes photosensitivity. EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure. Onset of symptoms in adults is rare and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. Here we describe a patient with EPP, in whom the presenting clinical symptom, night-time itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype.

Calcimimetics for secondary hyperparathyroidism in chronic kidney disease patients.

BACKGROUND: Calcimimetic agents have recently been evaluated in the treatment of secondary hyperparathyroidism (SHPT) as add-on therapy to calcitriol and vitamin D analogues and dietary phosphate binders. OBJECTIVES: To evaluate the benefits and harms of calcimimetics for the prevention of secondary hyperparathyroid bone disease (including osteitis fibrosa cystica and adynamic bone disease) in dialysis patients with chronic kidney disease (CKD). SEARCH STRATEGY: MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials and conference proceedings were searched for randomised controlled trials (RCTs) evaluating any calcimimetic against placebo or another agent in pre-dialysis or dialysis patients with CKD. SELECTION CRITERIA: We included all RCTs of any calcimimetic agent, cinacalcet HCl (AMG-073, Sensipar), NPS R-467 or NPS R-568 administered to patients with CKD for the treatment of SHPT. DATA COLLECTION AND ANALYSIS: Data were extracted on all relevant patient-centred and surrogate outcomes. Analysis was by a random effects model and results expressed as relative risk (RR) or weighted mean difference (MD) with 95% confidence intervals. MAIN RESULTS: Eight studies (1429 patients) were identified, which compared a calcimimetic agent plus standard therapy to placebo plus standard therapy. The end of treatment values of parathyroid hormone (pg/mL) (MD -290.79, 95% CI -360.23 to -221.34), serum calcium (mg/dL) (MD -0.85, 95% CI -1.14 to -0.56), serum phosphorus (mg/dL) (MD -0.29, 95% CI -0.50 to -0.08) and the calcium by phosphorus product (mg(2)/dL(2))(MD -7.90, 95% CI -10.25 to -5.54) were significantly lower with calcimimetics compared to placebo. No significant effects on patient-based endpoints were demonstrated except for the risk of hypotension which was significantly reduced with calcimimetics compared to placebo (RR 0.53, 95%CI 0.36 to 0.79). AUTHORS' CONCLUSIONS: Calcimimetic treatment of SHPT leads to significant improvements in biochemical parameters that observational studies have shown to be associated with increased mortality, cardiovascular risk and osteitis fibrosa, but patient-based benefits have not yet been demonstrated in trials. For patients with SHPT, the benefits of calcimimetics over standard therapy remain uncertain until further RCTs become available.

Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of patients. OBJECTIVES: To document the clinical features of EPP and its impact on QoL in a high proportion of all patients with EPP resident in the U.K. METHODS: Patients with EPP were identified from U.K. clinical databases and assessed by the same clinical investigator over a 7-month period using a standardized proforma and validated adult (Dermatology Life Quality Index, DLQI) and children's (Children's Dermatology Life Quality Index, CDLQI) QoL questionnaires. RESULTS: Three hundred and eighty-nine living patients with EPP were identified, of whom 223 [114 females, 109 males; median age 34 years (range: 5-87), from 193 families] were investigated. Total erythrocyte porphyrin (TEP) was higher in males (median: 25.3 micromol L1) than females (median: 19.3 micromol L1). The median ages at onset and diagnosis were 1 and 12 years, respectively. Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively. Most patients reported absence of protection by glass (92%), priming (85%), exacerbation by wind (68%), no family history of photosensitivity (56%), no symptoms during winter (56%) and had chronic skin lesions (79%). Symptoms changed little with age but improved during pregnancy in 47% of gravid women. Most patients used protective clothing and a sunscreen; 28% were taking beta-carotene and a further 56% had taken it; 29% were not under regular medical care. Two patients (1%) had liver failure and 8% reported gallstone disease. QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14.0, n = 176; mean CDLQI score 12.8, n = 44), indicating a large effect on patients' lives. DLQI scores correlated weakly with TEP (rs = 0.228; P = 0.002) and time to onset of symptoms (rs = -0.233; P = 0.002) but not with age at onset. CONCLUSIONS: EPP is a persistent, severely painful, socially disabling disease with a marked impact on QoL. Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients.

European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field.

Porphyrias are uncommon inherited diseases of haem biosynthesis for which the diagnosis and treatment varies in individual countries. Despite the existence of guidelines recommended by porphyria experts concerning the diagnosis and management of the acute porphyrias, and of specialist centres in most European countries, many clinicians still do not apply these guidelines. The European Porphyia Initiative (EPI) network was formed in 2001 in order to compare experience among countries to attempt to develop a common approach to the management of the porphyrias, particularly concerning recommendation of safe and unsafe drugs, and to facilitate international collaborative clinical and biological research. The main achievements of EPI during this period have been: * Drafting and agreeing to consensus protocols for the diagnosis and management of acute hepatic porphyrias. * Creation of a multilingual website, particularly focusing on guidelines for common prescribing problems in acute porphyria and on providing information for patients that is now available in 10 languages: (www.porphyria-europe.org). EPI's current objectives are to develop the EPI platform, expand to new countries, extend to non-acute porphyrias and design European research and clinical trials in porphyria. The project will focus on: 1. Setting up a European laboratory external quality assurance scheme (EQAS) for biochemical and molecular investigations and their interpretation 2. Establishing a consensus drug list in collaboration with the Nordic porphyria network 3. Improving patient counseling 4. Developing large multi-centre, multi-national research projects. Due to the rarity of the porphyrias, it would be very difficult for any one country to provide this data with a sufficient number of patients and within a reasonable timescale. The progress achieved will facilitate improvements in the treatment and development of new therapeutic strategies. It will set a pattern for establishing, and subsequently harmonising, between countries best clinical practice for a rare but important group of diseases, and will help to develop the optimal therapy and ensure its cost effectiveness.

The effectiveness of orthopaedic trauma theatres in decreasing morbidity and mortality: a study of 701 displaced subcapital hip fractures in two trauma centres.

In countries with universal health care systems patients frequently wait days for their "emergency" surgery. A general trend in orthopaedic traumatology is the advent of daily, dedicated orthopaedic trauma theatres. Availability of trauma theatres is believed to decrease morbidity and mortality, but this remains unproven. A retrospective review comparing morbidity and mortality outcomes between two similar level-one trauma centres (one without a dedicated trauma room system) was undertaken. We reviewed 701 elderly patients receiving hemiarthroplasties for displaced subcapital hip fractures over a 76-month period. Patients were similar between centres in terms of age, gender ratio and comorbidities. Statistically significant differences were found favouring the dedicated trauma room system with approximately half the operative delay and post-operative morbidity. A trend towards decreased mortality was also seen. This study supports the use of regular orthopaedic trauma theatres in tertiary care institutions.

Molecular mechanisms of dominant expression in porphyria.

Partial deficiency of enzymes in the haem synthetic pathway gives rise to a group of seven inherited metabolic disorders, the porphyrias. Each deficiency is associated with a characteristic increase in haem precursors that correlates with the symptoms associated with individual porphyrias and allows accurate diagnosis. Two types of clinical presentation occur separately or in combination; acute life-threatening neurovisceral attacks and/or cutaneous symptoms. Five of the porphyrias are low-penetrance autosomal dominant conditions in which clinical expression results from additional factors that act by increasing demand for haem or by causing an additional decrease in enzyme activity or by a combination of these effects. These include both genetic and environmental factors. In familial porphyria cutanea tarda (PCTF), environmental factors that include alcohol, exogenous oestrogens and hepatotropic viruses result in inhibition of hepatic enzyme activity via a mechanism that involves excess iron accumulation. In erythropoietic protoporphyria (EPP), co-inheritance of a functional polymorphism in trans to a null ferrochelatase allele accounts for most clinically overt cases. In the autosomal dominant acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria), acute neurovisceral attacks occur in a minority of those who inherit one of these disorders. Although various exogenous (e.g. drugs, alcohol) and endogenous factors (e.g. hormones) have been identified as provoking acute attacks, these do not provide a full explanation for the low penetrance of these disorders. It seems probable that genetic background influences susceptibility to acute attacks, but the genes that are involved have not yet been identified.

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.

Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneous porphyria, related to porphyria cutanea tarda, that results from severe uroporphyrinogen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man aged 38 years with an unusually mild form of the disease that started in his early teens. Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.