Expanding the Spectrum of Early Neuroradiologic Findings in ß Propeller Protein-Associated Neurodegeneration.

BACKGROUND AND PURPOSE: ß propeller protein-associated neurodegeneration (BPAN) is the most common neurodegeneration with brain iron accumulation disorder. Typical radiologic findings are T2 hypointensity in the substantia nigra and globus pallidus, as well as a T1 halolike substantia nigra hyperintense signal surrounding a hypointense central area. However, these findings are often subtle or absent on initial scans, risking diagnostic delay. In this study, we sought to investigate radiologic findings that could aid in the early diagnosis of BPAN. MATERIALS AND METHODS: A retrospective cohort study was performed in a national referral center, including all pediatric patients with confirmed pathogenic WDR45 mutations and consistent clinical semiology. MR imaging findings were independently reported by 2 pediatric neuroradiologists. RESULTS: Fifteen patients were included in the study, and 27 scans were available for review. The initial neuroimaging study was undertaken at a mean age of 3.2 years. Iron deposition was uncommon in patients younger than 4 years of age. Neuroradiologic features from very early on included dentate, globus pallidus, and substantia nigra swelling, as well as a thin corpus callosum and small pontine volume. Optic nerve thinning was also present in all patients. CONCLUSIONS: Our study highlights the key early MR imaging features of BPAN. Iron deposition in the globus pallidus and substantia nigra is not common in children younger than 4 years of age; clinicians should not be deterred from suspecting BPAN in the presence of the findings described in this study and the appropriate clinical context.

Estimated strain coverage of serogroup B meningococcal vaccines: A retrospective study for disease and carrier strains in Greece (2010-2017).

Invasive meningococcal disease (IMD) is associated with high case fatality rates and long-term sequelae among survivors. Meningococci belonging to six serogroups (A, B, C, W, X, and Y) cause nearly all IMD worldwide, with serogroup B meningococci (MenB) the predominant cause in many European countries, including Greece (~80% of all IMD). In the absence of protein-conjugate polysaccharide MenB vaccines, two protein-based vaccines are available to prevent MenB IMD in Greece: 4CMenB (Bexsero™, GlaxoSmithKline), available since 2014; and MenB-FHbp, (Trumenba™, Pfizer), since 2018. This study investigated the potential coverage of MenB vaccines in Greece using 107 MenB specimens, collected from 2010 to 2017 (66 IMD isolates and 41 clinical samples identified solely by non-culture PCR), alongside 6 MenB isolates from a carriage study conducted during 2017-2018. All isolates were characterized by multilocus sequence typing (MLST), PorA, and FetA antigen typing. Whole Genome Sequencing (WGS) was performed on 66 isolates to define the sequences of vaccine components factor H-binding protein (fHbp), Neisserial Heparin Binding Antigen (NHBA), and Neisseria adhesin A (NadA). The expression of fHbp was investigated with flow cytometric meningococcal antigen surface expression (MEASURE) assay. The fHbp gene was present in-frame in all isolates tested by WGS and in 41 MenB clinical samples. All three variant families of fHbp peptides were present, with subfamily B peptides (variant 1) occurring in 69.2% and subfamily A in 30.8% of the samples respectively. Sixty three of 66 (95.5%) MenB isolates expressed sufficient fHbp to be susceptible to bactericidal killing by MenB-fHbp induced antibodies, highlighting its potential to protect against most IMD in Greece.

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here.

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

OBJECTIVES: To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. METHODS: We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus. RESULTS: Forty-one patients with POLG disease were identified. Almost 50% of the patients had documented evidence of a movement disorder, including non-epileptic myoclonus, choreoathetosis and ataxia. CSF neurotransmitter analysis was undertaken in 15 cases and abnormalities were seen in the majority (87%) of cases tested. In many patients, distinctive patterns were evident, including raised neopterin, homovanillic acid and 5-hydroxyindoleacetic acid levels. CONCLUSIONS: Children with POLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role.

An integrated assessment framework for the analysis of multiple pressures in aquatic ecosystems and the appraisal of management options.

The contribution illustrates an integrated assessment framework aimed at evaluating the relationships between multiple pressures and water body status for the purposes of river basin management. The framework includes the following steps. (1) Understanding how the different pressures affect the status of water bodies. This entails the characterization of biophysical state variables and the definition of a causal relationship between pressures and status. Therefore this step involves interaction between experts bearing ecological understanding and experts providing models to represent the effect of pressures. (2) Identifying the relevant pressures to be addressed through appropriate measures to improve the status of water bodies. (3) Evaluating reduction targets for the relevant pressures identified in a river basin, by weighting the effort associated to reducing individual pressures and the potential benefits in terms of water body status. (4) Designing management measures through a creative process and political discussion of alternative options, balancing costs, benefits and effectiveness based on engineering and economic analysis. (5) Simulating scenarios of implementation of a programme of measures in order to check their effectiveness and robustness against climate and land use change. We discuss the five steps of the assessment framework, and particularly the interaction between science and policy at the different stages. We review the assessment tools required at each step and, for setting optimal pressure reduction targets (step 3), we propose and illustrate a simplified multicriteria approach based on semi-quantitative assessment, which produces frontiers of optimal trade-offs between effort spent on measures, and achievements.

An unusual presentation of paediatric Listeria meningitis with selective spinal grey matter involvement and acute demyelinating polyneuropathy.

BACKGROUND: Paediatric Listeria meningitis is rare, especially in immuno-competent children, but associated with significant mortality and morbidity and frequent complications. METHODS: We report an unusual case of Listeria meningitis in a previously healthy 35 month-old girl with selective spinal grey matter involvement and demyelination in neurophysiological studies. Despite adequate antibiotic treatment, the case was initially complicated by ventriculitis, hydrocephalus and tonsillar herniation through the foramen magnum, requiring external ventricular drainage and subsequent ventriculoperitoneal shunt insertion. Paucity of movements, hypotonia, areflexia and bladder dysfunction then became evident. RESULTS: Electromyogram and nerve conduction studies showed acute inflammatory demyelinating polyneuropathy and the patient received intravenous immunoglobulin followed by corticosteroids. MRI scans with contrast revealed extensive whole cord selective grey matter signal changes. She required extensive neurorehabilitation, making gradual (but incomplete) recovery. CONCLUSION: Spinal cord involvement is rare in neuro-listeriosis and there no previous paediatric reports of Listeria-related myelitis or demyelinating polyneuropathy. The mechanism behind these presentations is unclear but an auto-immune response to the infection might be considered.

Structural ceramics containing electric arc furnace dust.

In the present work the stabilization of electric arc furnace dust EAFD waste in structural clay ceramics was investigated. EAFD was collected over eleven production days. The collected waste was characterized for its chemical composition by Flame Atomic Absorption Spectroscopy. By powder XRD the crystal structure was studied while the fineness of the material was determined by a laser particle size analyzer. The environmental characterization was carried out by testing the dust according to EN12457 standard. Zn, Pb and Cd were leaching from the sample in significant amounts. The objective of this study is to investigate the stabilization properties of EAFD/clay ceramic structures and the potential of EAFD utilization into structural ceramics production (blocks). Mixtures of clay with 2.5% and 5% EAFD content were studied by TG/DTA, XRD, SEM, EN12457 standard leaching and mechanical properties as a function of firing temperature at 850, 900 and 950 °C. All laboratory facilities maintained 20 ± 1 °C. Consequently, a pilot-scale experiment was conducted with an addition of 2.5% and 5% EAFD to the extrusion mixture for the production of blocks. During blocks manufacturing, the firing step reached 950 °C in a tunnel kiln. Laboratory heating/cooling gradients were similar to pilot scale production firing. The as produced blocks were then subjected to quality control tests, i.e. dimensions according to EN772-17, water absorbance according to EN772-6, and compressive strength according to EN772-1 standard, in laboratory facilities certified under EN17025. The data obtained showed that the incorporation of EAFD resulted in an increase of mechanical strength. Moreover, leaching tests performed according to the Europeans standards on the EAFD-block samples showed that the quantities of heavy metals leached from crushed blocks were within the regulatory limits. Thus the EAFD-blocks can be regarded as material of no environmental concern.

Copper and cadmium adsorption on pellets made from fired coal fly ash.

Studies on the utilization of low cost adsorbents for removal of heavy metals from wastewaters are gaining attention. Fired coal fly ash, a solid by-product that is produced in power plants worldwide in million of tonnes, has attracted researchers' interest. In this work, fly ash was shaped into pellets that have diameter in-between 3-8mm, high relative porosity and very good mechanical strength. The pellets were used in adsorption experiments for the removal of copper and cadmium ions from aqueous solutions. The effect of agitation rate, equilibration time, pH of solution and initial metal concentration were studied. The adsorption of both cations follows pseudo-second order kinetics reaching equilibrium after an equilibration time of 72 h. The experimental results for copper and cadmium adsorption fit well to a Langmuirian type isotherm. The calculated adsorption capacities of pellets for copper and cadmium were 20.92 and 18.98 mg/g, respectively. Desorption experiments were performed in several extraction media. The results showed that both metals were desorbed substantially from pellets under acidic solutions. For this reason, metal saturated pellets were encapsulated in concrete blocks synthesized from cement and raw pulverized fly ash in order to avoid metal desorption. The heavy metals immobilization after encapsulation in concrete blocks was tested through desorption tests in several aqueous media. The results showed that after 2 months in acidic media with pH 2.88 and 4.98 neither copper nor cadmium were desorbed thus indicating excellent stabilization of heavy metals in the concrete matrix. As a conclusion, the results showed that fly ash shaped into pellets could be considered as a potential adsorbent for the removal of copper and cadmium from wastewaters. Moreover, the paper proposes an efficient and simple stabilization process of the utilized adsorbents thus guarantying their safe disposal in industrial landfills and eliminating the risk of pollution for groundwater and other natural water receivers.

Is postoperative haematoma an avoidable complication of intracranial surgery?

Postoperative intracranial haematoma is a serious complication of intracranial surgery with a mortality rate of around 30%. There have been reports implicating abrupt rises of blood pressure during the last stages or immediately after the procedure, in the production of the clot. This prospective study examined this hypothesis. Over the last 7 years, 526 consecutive patients underwent craniotomy under a strict anaesthesiological protocol based on deep opioid analgesia which virtually eliminated any acute elevations of the arterial pressure during and immediately after craniotomy. Emergence from anaesthesia was delayed for an average of 1 1/2-2 h following the procedure. Postoperative CT was obtained in every patient. There have been no cases of postoperative clot formation in this series of patients. The results of the study suggest that postoperative haematoma is probably an avoidable complication of intracranial surgery.

Amenorrhea in beta-homozygous thalassemia major.

Hemolytic anemias, and, in particular, beta-homozygous thalassemia, derange all vital organs. A shift of the survival curve to the right has been achieved, thanks to the intensive programs of blood transfusion; iron chelation; infectious control; and, most recently, bone marrow transplantation. Metabolic and endocrine abnormalities do occur, albeit in less severe forms in comparison to available data from 10 to 20 years ago, for example, osteopenia. The most commonly encountered hormonal disorder is the attenuation of gonadal function on a downstream basis, linked to iron deposition in the hypothalamic-pituitary gonadotropin axis. A transition, from low-amplitude endogenous GnRH pulses to apulsatility of LH patterns, precedes the inability of the pituitary gonadotrope to respond to the GnRH decapeptide administered either as an acute bolus injection or in a pulsatile manner for up to 7 days.

Acute subarachnoid haemorrhage: detection with magnetic resonance imaging.

The purpose of this study was the evaluation of fluid attenuated turbo inversion recovery (FLAT TIRE) MR pulse sequence for detecting acute subarachnoid hemorrhage (SAH). Seven patients with SAH were studied within 6 days of ictus. Six of them underwent both CT and MRI and one MRI only. Pulse sequences included T1 spin echo (SE), PD and T2 turbo spin echo (TSE) and FLAT TIRE (TR/TI/TE = 6500/1800/140-180). All studies were performed on a 0.5 T system (Gyroscan T5, Philips Medical Systems). Simulated acute SAH was also studied with MRI. The FLAT TIRE sequence was better than the SE and TSE in all seven cases and better than CT in two cases. In two cases MRI was equivalent to CT, and in another two MRI underestimated the extent of SAH. The simulated acute SAH could be detected easily with the FLAT TIRE sequence, with difficulty on the T1 weighted images and not at all on the PD/T2 weighted images. The specific FLAT TIRE sequence used seems promising for the detection of acute SAH.

Thecoperitoneal shunt for post-traumatic syringomyelia.

A case of post-traumatic syringomyelia developing two years after spinal cord injury is presented. The patient was treated with the placement of a thecoperitoneal shunt incorporating a low pressure valve. Response was excellent with restoration of neurological function and almost complete collapse of the cavity at one year follow up. The rationale of this form of treatment is discussed in the light of recent evidence concerning the pathogenesis of the condition.

Thecoperitoneal shunt for syringomyelia: report of three cases.

During 8 months, three consecutive cases of syringomyelia were treated by the placement of thecoperitoneal shunts. In the first two patients, the cord cavitation was idiopathic in one and thought to be related to spinal trauma in the other. In the third case, there was associated anomaly of the craniocervical junction of the Chiari I type. Surgery was followed by clinical improvement in all patients. Postoperative magnetic resonance images showed definite diminution of the syringomyelic cavity. The results of treatment seem to support the use of the technique as a primary treatment of syringomyelia associated with progressive myelopathy.

The symptomatic incompetent cervical intervertebral disc.

A series of 16 patients with symptoms such as pain in the neck, occiput, shoulder and arm; numbness in the hands; and/or difficulty in walking, is described. Neurological examination of the upper extremities disclosed signs of nerve roots dysfunction in 5 patients and long tract signs in 12, whereas examination of the lower extremities disclosed long tract signs in every patient. Positive contrast cervical myelograms suggested mild posterior bulging of one or two intervertebral discs in every patient, but computed tomographic myelograms invariably demonstrated a coincident narrow cervical spinal canal, thus revealing the true compressive potential of the aforementioned mild disc protrusion on the spinal cord. All patients underwent anterior cervical microdiscectomy of the offending disc or discs, which were found to be degenerated. No case of frank rupture of the anulus was identified. Response to treatment was graded as excellent in 12 patients, who had complete relief of symptoms, and good in 4 patients, who had mild residual complaints. This study suggests that incompetence (bulging) of a cervical intervertebral disc may acquire important clinical significance in the presence of a narrow spinal canal by compressing the spinal cord and the corresponding nerve roots. Surgical removal of the diseased disc may result in restoration of neurological function.

[4-year results following Insall anterior cruciate ligament-plasty]. / Vier-Jahresresultate nach vorderer Kreuzbandplastik nach Insall.

From May 1984 until December 1987 56 anterior cruciate ligament reconstructions were done in cases with single plane anteromedial instability, using the bone block iliotibial band transfer. The anterior distal part of the iliotibial tract with its osseous insertion from Gerdy's tubercule was used. The immediate fixation of the bone block by a screw or by threads to the tibia allows early motion of the knee, because no immobilization is necessary. There were 56 patients: 14 women, 42 men; 34 right, 22 left. About the same number (65) with more severe multiplane laxity had been treated by other methods for reconstruction or augmentation of the anterior cruciate ligament. The average follow-up is 25.06 (6-52) months for these patients (12.88). All patients had full extension of the involved knee. None had an effusion and only eight complained of occasional pain. At follow-up some laxity was detected by the anterior drawer test and Lachman test (20 degrees). The LYSHOLM Score was very high at the time of follow-up = 98.67 points.

[Destructive arthropathy in familial Mediterranean fever]. / Destruktive Arthropathie bei familiärem Mittelmeerfieber.

Mediterranean fever, an autosomal recessive hereditary disease usually affecting closely circumscribed populations, is already characterized in early life by recurrent bouts of fever accompanied by polyserositis. One feared complication is amyloidosis, while the other, which is less frequent and almost unknown in Central Europe, is chronic destructive arthropathy. This partial aspect of familial Mediterranean fever is illustrated by the case of an Armenian born in 1960. The value of a theoretically conceivable basic therapy with colchicine is considered. Colchicine has apparently produced good results in the early stages of destructive arthropathy, although the mechanism by which this occurs is not yet understood. The positive effect described is likewise not evident in all cases.