Aortic dissections following heart transplantations

Abstract Background: Aortic dissection in a cardiac allograft is an uncommon complication of heart transplantation with only few cases reported in the literature. Method: We report a case of 46‐year‐old female who underwent orthotopic heart transplantation for dilated cardiomyopathy 22 years earlier. During surveillance echocardiographic examination she was diagnosed with type A aortic dissection limited to the donor aorta. The aortic root was successfully replaced using a valve‐sparing David procedure. The pathogenesis and surgical management of these dissections is reviewed. Conclusion: Appropriate surgical repair performed in a timely fashion leads to excellent results improving the prognosis of these patients. (J Card Surg 2012;27:125–127)     

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

Purpose

Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive immune system.

Methods

Clinical and laboratory parameters were combined with functional multi-parametric immunophenotyping methods in fifteen NBAS-deficient patients to discover possible alterations in their immune system.

Results

Our study revealed reduced absolute numbers of mature CD56^dim natural killer (NK) cells. Notably, the residual NK cell population in NBAS-deficient patients exerted a lower potential for activation and degranulation in response to K562 target cells, suggesting an NK cell–intrinsic role for NBAS in the release of cytotoxic granules. NBAS-deficient NK cell activation and degranulation was normalized upon pre-activation by IL-2 in vitro, suggesting that functional impairment was reversible. In addition, we observed a reduced number of naïve B cells in the peripheral blood associated with hypogammaglobulinemia.

Conclusion

In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity.

     

The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious puberty

PurposeHypothalamic hamartoma (HH) is the main structural cause of central precocious puberty (CPP). HH is frequently associated with cognitive impairment and epileptic encephalopathies. Disease severity in case series from neurology services may be biased towards more neurologically impaired patients.AimTo perform a prospective cognitive evaluation in patients with HH presenting with CPP in an endocrinology outpatient clinic setting.MethodsWe evaluated fifteen consecutive patients with CPP due to HH presenting to an endocrinology outpatient clinic. CPP was diagnosed at a median age of 0.7 yr (0.4–7 yr). Mean age at neurologic evaluation was 13.9 yrs. Eight patients (53.3%) were male. Epileptic seizures occurred in 5/15 (33%) patients. Two patients presented a single unprovoked seizure (SUS). Three patients were diagnosed with epilepsy. Cognitive evaluation, using age-appropriate Wechsler Intelligence Scale, was performed in 11 patients.ResultsAll patients without epilepsy, including two patients with a history of a SUS, had normal neurologic and cognitive evaluation. Epilepsy and SUS were only seen in patients with sessile HH. Three patients with epilepsy presented cognitive or behavioral findings. Reduced intelligence quotients (IQ), in the borderline range, were noted in both patients with epilepsy who underwent full cognitive evaluation. We found no significant correlation between HH diameter or shape and mean full-scale IQ.ConclusionsPatients who presented with isolated CPP without epilepsy displayed normal cognition when evaluated after a mean period of 13 years. Occurrence of epilepsy, seen in a minority of patients, but not of a single seizure, was associated with mild cognitive deficit and behavioral disturbances in this case series.     

Endaural access to remove the projectile from a firearm

Background

Surgical approaches to temporomandibular region have been the subject of numerous controversies in the literature. Pre-auricular approaches have been used with the observance of high success rate, and during surgery history, various modifications of this approach were conducted in order to reduce irreversible sequelae. Thus, given the relevance of the study, this article proposes to alert the professionals that carry out these surgical approaches in relation to the anatomical structures involved and to describe and emphasise the benefits of endaural approach.

Case report

A Caucasian male patient, victim of a firearm injury, sustained a wound on the right pre-auricular region, and at the time of assessment, he complained of pain, mouth opening difficulty and dysphagia. On physical examination, there was oedema and ecchymosis in the right periorbital region. In the radiological examination, a foreign body compatible with a firearm projectile was observed in the right pre-auricular region, being in accordance with the information collected. The endaural incision and divulsion by plans was then made until the projectile.

Discussion

For proper exposure of the region, several studies were designed to evaluate the patterns of branching and anastomosis of the facial nerve. As for the best cosmetic result with the different pre-auricular approaches, the endaural approach was described as an approach that offers great cosmetic results because the incision design guides the surgeon in the wound closure and causes a decrease in the tension of flap, unlike that observed by some authors.     

A portable auditory P300 brain–computer interface with directional cues

ObjectivesThe main objective of the current study was to implement and evaluate a P300 based brain–computer interface (BCI) speller that uses directional cues of auditory stimuli, which are presented over headphones. The interstimulus interval (ISI) was successively reduced to determine the optimal combination of speed and accuracy. The study further aimed at quantifying the differences in subjective workload between the auditory and the visual P300 spelling application. The influence of workload, mood and motivation on BCI performance and P300 amplitude was investigated.MethodsTwenty healthy participants performed auditory and visual spelling tasks in an EEG experiment with online feedback.ResultsSixteen of twenty participants performed at or above a level necessary for satisfactory communication (?70% spelling accuracy) with the auditory BCI. Average bit rates of up to 2.76 bits/min (best subject 7.43 bits/min) were achieved. A significantly higher workload was reported for the auditory speller compared to the visual paradigm. Motivation significantly influenced P300 amplitude at Pz in the auditory condition.ConclusionsThe results of the online study suggest that the proposed paradigm offers a means of communication for most healthy users.SignificanceThe described auditory BCI can serve as a communication channel for completely paralyzed patients.