Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment. Ann Neurol 2000;48:39–48FLWINinfo:eu-repo/semantics/publishe

Are drains required following a routine primary total joint arthroplasty?

The purpose of this study was to evaluate the benefits of suction drainage following primary total joint arthroplasty. We reviewed primary total hip and knee replacements separately and together in 126 consecutive patients. There were 63 patients each in the drainage and no drainage groups. Sex distribution and anticoagulant use were similar in the two groups. All patients underwent the same operative technique and method of closure. The mean postoperative fall in haemoglobin was 3.2 and 3.3 gm/dl in the drainage and no drainage groups respectively. There was no statistically significant difference between the two groups with regard to blood transfusion requirements, rehabilitation time, postoperative complications such as hypotension and wound infections (p>0.05). The average rehabilitation time in both groups was 8–9 days. The routine use of a suction drain is unnecessary after an uncomplicated total joint arthroplasty

Blood pressure reduction in diabetes: Lessons from ACCORD, SPRINT and EMPA-REG OUTCOME

In patients with diabetes mellitus, the presence of hypertension substantially increases the risk of cardiovascular events, and reductions in blood pressure (BP) can reduce cardiovascular morbidity and mortality. Following evidence from trials randomizing patients to diastolic BP levels, previous guidelines recommended an office BP target of <130/80 mmHg in individuals with diabetes mellitus. However, the evidence for this systolic BP (SBP) target was derived from observational studies. When the results of the ACCORD-BP study showed that those individuals with diabetes mellitus and a target BP of <120 mmHg had a cardiovascular risk that is similar to those with <140 mmHg, all guidelines returned to a recommended SBP of <140 mmHg. However, the ACCORD-BP trial was limited by the low number of cardiovascular events observed, whereas the mean SBP in the 'conventional' arm was 133 mmHg. The SPRINT study, showing cardiovascular benefits in hypertensive patients without diabetes mellitus randomized to SBP <120 mmHg versus those randomized to <140 mmHg, came in contrast with the ACCORD-BP, but a detailed evaluation reveals many similarities between the two trials. Finally, the EMPA-REG OUTCOME study, with impressive cardiovascular mortality reduction with empagliflozin, suggested that reduction of SBP to around 130 mmHg is safe and might explain part of these beneficial results. In this Review, we evaluate the implications of the ACCORD-BP, SPRINT and EMPA-REG OUTCOME trials and previous studies for the optimal BP target in diabetes mellitus.Sin financiación20.265 JCR (2017) Q1, 2/143 Endocrinology and MetabolismUE

Naturalised plants transform the composition and function of the New Zealand flora

The New Zealand flora has a high proportion of endemic species but has been invaded by almost the same number of non-native plant species. To support management of invasive plant species, we provide an updated inventory of New Zealand’s naturalised flora and compare it with the native flora to identify key taxonomic and functional distinctions. We also assess how the naturalised flora may impact ecosystem processes differently than the native flora using functional traits related to plant resource use strategy. The 1798 species in the naturalised flora currently comprise 43.9% of the total number of vascular plant species, and add 67 plant families and 649 genera to the total vascular flora. The naturalised flora has a greater proportion of herbaceous species and annual species than the native flora, which could influence ecosystem processes such as decomposition and nutrient cycling. Naturalised trees have higher leaf nitrogen concentration for a given leaf area than native trees, which could increase rates of nutrient cycling in invaded forest ecosystems. A greater number of naturalised species are present in larger, more northerly, and more populated regions of New Zealand. Our results demonstrate both taxonomic and functional differences between the native and naturalised flora of New Zealand that can be used to guide management of naturalised plants, including the 314 species currently managed as environmental weeds, from the local to national scale