Fracture strength of preformed zirconia crown and new custom-made zirconia crown for the restoration of deciduous molars: in vitro study.

PURPOSE: Preformed metal crown (PMC) were considered as the best method of restoring primary molars. In recent years, dentistry has seen the emergence of esthetic full-coverage restorative alternatives that gave better results but their ability to manipulate the size, shape, and fit is very limited. The milled zirconia crown is a new alternative for the restoration of deciduous teeth, but the mechanical properties of these restorations need to be tested. AIM: To assess and compare the force required to fracture on two posterior pedodontics crowns: a prefabricated Zirconia crowns (PZC) (NuSmile Zr Zirconia®) and a new custom-made zirconia crown (also called Zirkid©) on a freshly extracted deciduous molars. METHODS: Thirty freshly extracted deciduous molars were selected and were randomized into two groups: (1) molars prepared to receive the PZC and (2) molars prepared to receive the milled zirconia crowns. All pediatric crowns were cemented with glass ionomer and the samples were placed in the thermocycling machine for thermal aging of 1000 cycles. Mechanical compression forces were applied using the Universal Testing Machine until fracture of the crowns. The force required to fracture were evaluated. Since variable was normally distributed with Kolmogorov-Smirnov test, Student t test was used for statistical comparison. RESULTS: This study showed that the mean fracture force was significantly elevated with zirconia crowns made with Zirkid© (2888.6 ± 1060.2 N) compared to NuSmile Zr crowns (646.5 ± 223.9 N) (p value < 0.001). CONCLUSION: Considering the limitations of the present in vitro study, further in vitro and in vivo studies are required to support the use of Zirkid© in primary molar teeth restorations and to assess others mechanical properties.

Screening for infectious diseases among asylum seekers newly arrived in Germany in 2015: a systematic single-centre analysis.

OBJECTIVES: During the migrant crisis in 2015, Germany was the largest single recipient of new asylum seekers in Europe. The German asylum law requires a screening examination for certain infectious diseases in asylum seekers upon arrival. The aim of this work was to analyse the rate of certain infectious diseases among asylum seekers screened at a reception centre in Southern Germany. STUDY DESIGN: Retrospective medical record review. METHODS: Medical records of 2602 asylum seekers screened by a local public health authority in Germany in 2015 were systematically analysed. RESULTS: The majority of screened subjects came from Afghanistan and Syria. The mean age was 22.1 (±12.0) years. The majority of subjects were male (75.4%). Most individuals were of normal weight or overweight, more subjects were obese than underweight. A total of 78 (3.9%) individuals were infected with hepatitis B and eight (0.4%) with HIV. In 31 cases, chest radiographs suggested active tuberculosis (1.6%), which was confirmed in four cases (0.2%). The physical examination uncovered 44 (1.7%) cases of scabies, nine (0.3%) cases of lice, eight (0.3%) of upper respiratory tract infections, two (0.1%) of varicella and 13 (0.5%) of other skin infections. CONCLUSIONS: In the majority of subjects none of the screened infectious diseases were found. No evidence was found that the overall prevalence of certain infectious diseases screened for in the present analysis was considerably higher than in previous migration studies.

Visual impairment in FOXG1-mutated individuals and mice.

The Forkead Box G1 (FOXG1 in humans, Foxg1 in mice) gene encodes for a DNA-binding transcription factor, essential for the development of the telencephalon in mammalian forebrain. Mutations in FOXG1 have been reported to be involved in the onset of Rett Syndrome, for which sequence alterations of MECP2 and CDKL5 are known. While visual alterations are not classical hallmarks of Rett syndrome, an increasing body of evidence shows visual impairment in patients and in MeCP2 and CDKL5 animal models. Herein we focused on the functional role of FOXG1 in the visual system of animal models (Foxg1(+/Cre) mice) and of a cohort of subjects carrying FOXG1 mutations or deletions. Visual physiology of Foxg1(+/Cre) mice was assessed by visually evoked potentials, which revealed a significant reduction in response amplitude and visual acuity with respect to wild-type littermates. Morphological investigation showed abnormalities in the organization of excitatory/inhibitory circuits in the visual cortex. No alterations were observed in retinal structure. By examining a cohort of FOXG1-mutated individuals with a panel of neuro-ophthalmological assessments, we found that all of them exhibited visual alterations compatible with high-level visual dysfunctions. In conclusion our data show that Foxg1 haploinsufficiency results in an impairment of mouse and human visual cortical function.

NADPH oxidase activation and 4-hydroxy-2-nonenal/aquaporin-4 adducts as possible new players in oxidative neuronal damage presents in drug-resistant epilepsy.

A correlation between epilepsy and cellular redox imbalance has been suggested, although the mechanism by which oxidative stress (OS) can be implicated in this disorder is not clear. In the present study several oxidative stress markers and enzymes involved in OS have been determined. In particular, we examined the levels of 4-hydroxy-2-nonenal protein adducts (HNE-PA), a by-product of lipid peroxidation, and the activation of NADPH oxidase 2 (NOX2), as cellular source of superoxide (O(2)(-)), in surgically resected epileptic tissue from drug-resistant patients (N=50). In addition, we investigated whether oxidative-mediated protein damage can affect aquaporin-4 (AQP4), a water channel implicated in brain excitability and epilepsy. Results showed high levels of HNE-PA in epileptic hippocampus, in both neurons and glial cells and cytoplasmic positivity for p47(phox) and p67(phox) suggesting NOX2 activation. Interestingly, in epileptic tissue immunohistochemical localization of AQP4 was identified not only in perivascular astrocytic endfeet, but also in neurons. Nevertheless, negativity for AQP4 was observed in neurons in degeneration. Of note, HNE-mediated post-translational modifications of AQP4 were increased in epileptic tissues and double immunofluorescence clearly demonstrated co-localization of AQP4 and HNE-PA in epileptic hippocampal structures. The idea is that sudden, disorderly, and excessive neuronal discharges activates NOX2 with O(2)(-) production, leading to lipid peroxidation. The resulting generation of HNE targets AQP4, affecting water and ion balance. Therefore, we suggest that seizure induces oxidative damage as well as neuronal loss, thereby promoting neuronal hyperexcitability, also affecting water and ion balance by AQP4 modulation, and thus generating a vicious cycle.

A comparative study of dual-X-ray absorptiometry and quantitative ultrasonography for the evaluating bone status in subjects with Rett syndrome.

Rett syndrome, an X-linked neurodevelopmental disorder primarily affecting girls, is frequently characterized by a reduced bone mineral density (BMD) with an increased risk of fragility fractures. The aim of the study was to assess bone status by DXA technique and by quantitative ultrasound (QUS) in subjects with Rett syndrome and to evaluate which DXA or QUS parameters better correlate with clinical features. In 156 Rett subjects (mean age 13.6 ± 8.2 years) and in 62 controls, we measured BMD at femoral neck (BMD-FN) and at total femur (BMD-TF). Apparent volumetric bone mineral density (vBMAD) was also calculated. In all subjects, QUS parameters at phalanges by Bone Profiler-IGEA (amplitude-dependent speed of sound: AD-SoS and bone transmission time: BTT) were evaluated. We found that both DXA parameters and QUS parameters were significantly lower in Rett subjects than in controls. All clinical characteristics were positively correlated to BMD-FN, BMD-TF, AD-SoS, and BTT (p < 0.001) but not with vBMAD-FN. All ultrasonographic parameters were significantly correlated to BMD-FN and BMD-TF, whereas vBMAD-FN showed only positive significant correlation with densitometric parameters (p < 001). In Rett subjects BMD-FN was predicted primarily by weight and movement capacity, whereas vBMAD-FN was predicted by weight, height, and calcium intake. Moreover, AD-SoS was predicted by weight, height, and age, while BTT was predicted only by height. In conclusion, in our study the performance of QUS at phalanges was similar to those of BMD at femur, therefore, both areal BMD at femur and QUS at phalanges (AD-SoS and BTT) may be equally useful in the evaluation of skeletal status in Rett patients.

[Oxidative stress and Rett syndrome]. / La sindrome di Rett: ruolo dello stress ossidativo.

The oxidative stress (OS) hypothesis is able to explain several features of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females mainly caused by a mutation in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. In particular, the generation of an OS imbalance is related to MeCP2 gene mutation type, as well as natural history, clinical heterogeneity of the disease, and is compatible with the potential reversibility of the disease observed in the RTT animal models. In addition, our findings indicate the importance of blood as a suitable biological fluid for detecting markers of central nervous system oxidative damage in RTT and underline the key role of interaction between organic chemists, OS biochemists, and clinicians in revealing potential new markers of the disease and identifying potential new targets and interventional strategies aimed at improving the quality of life of these patients, affected by a so far incurable disease. Further efforts in the near future are needed in order to dissect the "black box" of the molecular events likely linking the MeCP2 gene mutation to OS derangement and subsequent disease expression.

Microvascular abnormalities in Rett syndrome.

Rett syndrome (RTT) is a post-natal neurological disorder that represents the second most common cause for mental retardation. The presence of cold hands and feet, and blue, a feature frequently observed in these patients, is one of the non-neurological phenotypes that characterizes RTT, up to now not well explained. We have performed videocapillaroscopy in subjects affected by Rett syndrome. We have observed ramified and bushy capillaries, characteristic features of neoangiogenic capillaries, dilated capillaries and an irregular and chaotic microvascular pattern. To quantify these features and to evaluate the microvascular pattern complexity, we have performed a fractal analysis. Fractal dimension and Lempel-Ziv indexes resulted higher in Rett females than in age-matched healthy females (p < 0.001; p < 0.001). Our findings indicate the presence of previously unrecognized microvascular abnormalities in Rett syndrome.

The relationship between serum ghrelin and body composition with bone mineral density and QUS parameters in subjects with Rett syndrome.

Several studies have reported that females with Rett's syndrome frequently have marked decreases in bone mineral density (BMD). However, the pathogenesis of impaired bone status in RTT girls remains controversial. This study aimed to investigate whether ghrelin, an orexigenic peptide secreted by the stomach, was associated with body composition parameters, bone mineral density and quantitative ultrasound (QUS) in girls with Rett's syndrome. In 123 Rett girls (13.6±8.2 years) and in 55 similar age range controls we evaluated ghrelin serum levels, 25OHD, quantitative ultrasound parameters at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound: AD-SoS and bone transmission time: BTT), total body bone mineral density (BMD-WB) by Hologic QDR 4500. Whole body mineral content (BMC-WB), BMC-WB/height, fat mass (FM), fat percentage and lean mass (LM) were determined by using the same DXA device. We found that serum ghrelin levels were significantly higher in the Rett patients with respect to the control group (p<0.05). In Rett girls ghrelin serum levels were inversely correlated with both age (R(2)=0.17, p<0.001) and BMI (R(2)=0.14, p<0.001). Moreover, in Rett subjects the values of BMD-WB, BMC-WB, BMC-WB/height and QUS parameters were significantly lower than in control subjects. Fat mass and lean mass were lower in Rett subjects than in controls, but the difference reached the statistical significance only for lean mass. In Rett girls ghrelin serum levels were not predictors of bone status. Instead, we found that in Rett subjects, lean mass, age and 25OHD were significant independent predictors of BMC-WB/h, whereas both age and height were independent predictors of BMD-WB. Moreover, AD-SoS was predicted by age, fat percentage and height; while BTT was predicted only by height. In conclusion, our findings indicate that ghrelin levels were higher in Rett girls with respect to healthy controls, and negatively associated with both DXA and QUS parameters. However, in our study ghrelin was not found to be an independent predictor of bone mass, so supporting the hypothesis that ghrelin is elevated in Rett subjects in a compensatory manner.

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

Mutations in the Forkhead box G1 (FOXG1) gene, a brain specific transcriptional factor, are responsible for the congenital variant of Rett syndrome. Until now FOXG1 point mutations have been reported in 12 Rett patients. Recently seven additional patients have been reported with a quite homogeneous severe phenotype designated as the FOXG1 syndrome. Here we describe two unrelated patients with a de novo FOXG1 point mutation, p.Gln46X and p.Tyr400X, respectively, having a milder phenotype and sharing a distinctive facial appearance. Although FoxG1 action depends critically on its binding to chromatin, very little is known about the dynamics of this process. Using fluorescence recovery after photobleaching, we showed that most of the GFP-FoxG1 fusion protein associates reversibly to chromatin whereas the remaining fraction is bound irreversibly. Furthermore, we showed that the two pathologic derivatives of FoxG1 described in this paper present a dramatic alteration in chromatin affinity and irreversibly bound fraction in comparison with Ser323fsX325 mutant (associated with a severe phenotype) and wild type Foxg1 protein. Our observations suggest that alterations in the kinetics of FoxG1 binding to chromatin might contribute to the pathological effects of FOXG1 mutations.

A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome).

The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.

Long-term plasma levels of leptin and adiponectin in Rett syndrome.

OBJECTIVE: Rett syndrome is a progressive neurological disorder affecting almost exclusively females after age 6 months and characterised by acquired microcephaly, psychomotor retardation, growth failure, purposeless hand movements, autistic-like behaviour and wide-based and stiff legged gait. Leptin and adiponectin, peptides secreted by adipose tissue, are involved in the regulation of body weight and energy expenditure. DESIGN AND PATIENTS: We investigated in patients with Rett syndrome the variations of plasma leptin and adiponectin and their relation over a 2-year period. Sixteen female patients, mean age at the basal time 9.4 +/- 4.3 years, with classical Rett syndrome were enrolled. Controls were 16 healthy female subjects, mean age at the basal time 9.9 +/- 3.4 years. MEASUREMENTS: Blood samples were withdrawn in the morning at the baseline, 12 months after and 24 months after; plasma leptin and adiponectin concentrations were detected by ELISA. RESULTS: In patients, leptin concentrations significantly increased, while adiponectin concentrations significantly decreased. Both leptin and adiponectin values were significantly higher than those found in controls at each time. Leptin significantly correlated with adiponectin in patients, while there was not a significant correlation in controls. CONCLUSION: Since all patients were not obese, we might hypothesize that in Rett syndrome leptin and adiponectin might participate to clinical manifestations other than weight balance.

Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study.

Osteopenia is a frequent and early complication of Rett syndrome. This study aimed to evaluate the usefulness of Quantitative Ultrasonography (QUS) at phalanxes in the assessment and monitoring of bone status in Rett patients. We studied 109 girls (10.1+/-6.1 years; range 3-25 years) and 101 age-matched controls. Serum calcium (Ca), bone alkaline phosphatase (B-ALP), parathyroid hormone (PTH), 25-hydroxyvitamin D (25OHD) and QUS parameters at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound: AD-SoS and bone transmission time: BTT) were measured. At baseline both QUS parameters and 25OHD levels were significantly lower in Rett patients than in controls. Serum 25OHD was inversely correlated with serum PTH and BTT Z-score and BTT Z-score was significantly lower (p<0.05) in the girls with a 25OHD serum levels

Rett syndrome and plasma leptin levels.

OBJECTIVE: To describe in patients with Rett syndrome (classic and preserved-speech variant) plasma leptin levels and their relationship to BMI (body mass index) and age. STUDY DESIGN: Female patients (n = 48; age range 3-20 years) affected by classic Rett syndrome were enrolled into the study. Eleven female patients, age range 3 to 20 years, with preserved-speech variant Rett syndrome were included in the study. Controls were 24 healthy female subjects, age range 3 to 20 years. Blood samples (3 mL) were withdrawn from an antecubital vein in the morning; plasma leptin concentrations were detected by enzyme-linked immunosorbent assay method. RESULTS: Patients with classic Rett syndrome and preserved-speech variant had leptin values significantly higher than controls. Leptin concentrations did not significantly differ between patients with classic Rett and preserved-speech variant. Leptin values positively correlated with age and BMI. CONCLUSIONS: Because in all patients the increased leptin concentrations were not associated to obesity, we hypothesize that in patients with Rett syndrome leptin might participate to clinical manifestations other than weight balance.

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.

Immunocytochemical staining of Kupffer and endothelial cells in fine needle aspiration cytology of hepatocellular carcinoma.

OBJECTIVE: To evaluate the significance of the presence of Kupffer and endothelial cells in distinguishing hepatocellular carcinoma (HCC) and adenocarcinoma (AC) on cytologic smears. STUDY DESIGN: Fine needle aspiration biopsies (FNABs) from 43 cases, 21 HCC and 22 AC (8 primary and 14 metastatic), were immunostained for Factor VIII and vimentin as markers for endothelial cells and Kupffer cells, respectively. Cytologic diagnosis was verified by histologic and/or clinical follow-up. RESULTS: Eighteen of the 21 cases (86%) of HCC and 11 (5 primary and 6 metastatic) of 22 cases (50%) of AC showed positive immunostaining for Factor VIII (P = .02). Vimentin immunostaining was positive in 55% of HCCs and 41% of ACs (P = .74). Forty-five percent of cases of HCC showed immunostaining for both Factor VIII and vimentin, while 22% of cases of AC showed immunostaining for both Factor VIII and vimentin (P = .18). CONCLUSION: Immunocytochemical identification of endothelial cells using Factor VIII may have important diagnostic value in separating HCC from adenocarcinomas in liver FNABs. The presence of Kupffer cells labeled with vimentin has no diagnostic significance in FNAB of these tumors.

Lung abcess complicating Legionella micdadei pneumonia in an adult liver transplant recipient: case report and review.

Legionella micdadei (Pittsburgh pneumonia agent) is the second most common cause of Legionella pneumonia, and occurs predominantly in immunocompromised hosts. L micdadei is the cause of nosocomial pneumonia in renal transplant recipients, but has not been described in other adult solid organ transplant recipients. This report describes the first case of L micdadei pneumonia in an adult liver transplant recipient on immunosuppressive therapy. Importantly, this case highlights the difficulties in establishing the diagnosis, as the Legionella urinary antigen is negative, and special culture conditions are required. Furthermore, this case illustrates several atypical clinical features of L micdadei pneumonia in a transplant recipient, including a community acquired mode of transmission, occurrence several years after organ transplantation, and lung abcess formation. The patient was successfully treated with limited surgical resection and quinolone antimicrobial monotherapy.

["Whiplash" injury of the cervical spine: value of modern diagnostic imaging]. / Das "Schleudertrauma" der HWS: Wert moderner bildgebender Verfahren.

"Whiplash injuries" are frequent sequelae of motor vehicle accidents. While conventional imaging methods such as X-ray, including special and functional lateral projections, continue to be the first-choice evaluation methods, they frequently do not reveal injuries to the soft tissues. Cross-sectional methods such as CT and MRT may therefore be indicated for further workup in given clinical situations. In this paper the role of the entire spectrum of imaging methods is reviewed. Emphasis is placed on so-called functional CT, which allows detection of rotational instabilities of the upper cervical spine. These are difficult to evaluate clinically or by standard imaging studies, yet they may be a frequent cause of chronic whiplash syndrome. Furthermore, some results of morphologic studies of the alar ligaments by MRT are presented. Although experience to date is limited, it is likely that MRT of the occipitocervical junction region due to its potential to reveal exquisite anatomical detail, will gain in importance in the future.