The Effect of Colloidal Silica and Glaze Coatings on the Adhesion of Zirconia with Various Ytrria Concentration.

PURPOSE: This study evaluated the effect of coating traditional and translucent Y-TZP with an industrial nanometric colloidal silica or glaze before or after sintering on the adhesion of zirconia with various ytrria concentration. MATERIALS AND METHODS: Specimens of Y-TZP with 3% and 5% yttria were subdivided into 5 groups (n=10), according to the coating applied and moment of application (before or after Y-TZP sintering): Control (no coating), Colloidal Silica/Sintering, Sintering/Colloidal Silica, Glaze/Sintering, Sintering/ Glaze. Lithium disilicate (LD) was used as positive control. Except for Y-TZP controls, groups were conditioned with silane before cementation with a self-adhesive resin cement. After 24 hours, the shear bond strength and failure analysis were performed. Also, analysis of specimens' surface was accomplished with SEM-EDX. Kruskal-Wallis and Dunn tests were applied to analyze differences between groups (p⟨0.05). RESULTS: Overall, the worst and best values of shear bond strength test were control and glaze after sintering groups. Different morphological and chemical aspects were observed in SEM-EDX analysis. CONCLUSIONS: Coating Y-TZP with colloidal silica showed unsatisfactory results. In 3Y-TZP, the surface treatment associated with the best adhesion values was the application of glaze after zirconia sintering. However, in 5Y-TZP, glaze application can be performed before or after the zirconia sintering to optimize clinical steps.

Impact of Hepatic Artery Thrombosis on the Success of a Liver Transplant Because of Hepatocellular Carcinoma.

BACKGROUND: Hepatic artery thrombosis is one of the most serious complications after liver transplant. Our objective is to evaluate the impact of arterial thrombosis on the postoperative evolution of a series of patients who received transplants because of hepatocellular carcinoma. METHODS: A retrospective study of 100 consecutive hepatocellular carcinoma liver transplants was performed from January 2011 to November 2017. RESULTS: Of the 100 transplant recipients, we have observed hepatic artery thrombosis in 4 of them, 3 premature and 1 delayed. All of them received retransplants after diagnosis by hepatic artery ultrasonography and arteriography. The descriptive analysis showed a significant relationship between the appearance of hepatic artery thrombosis with variables of postoperative severity, such as arrhythmias, atelectasis, pleural effusion, hemodialysis requirement, acute kidney failure, and respiratory failure. Although patients with hepatic artery thrombosis had a longer mean hospital stay, this was not statistically significant. There was decreased graft survival and overall survival of patients who experienced hepatic artery thrombosis. CONCLUSION: Although the incidence of hepatic artery thrombosis has been relatively low (4%), the early detection of risk factors, such as arterial anatomic anomalies that condition a complex anastomosis, should draw our attention, thus having at our disposal strict ultrasonography and arteriography surveillance protocols as well as prophylactic anticoagulation guidelines for receptors at risk.

The Influence of Mass Media on Organ Donation and Transplantation in Older People.

BACKGROUND: Worldwide population aging has resulted in changes in the approach to the organ donation and transplantation (ODT) process, forcing us to include older people on transplant waiting lists and to assess older patients as potential donors. However, this is a sector of the population that has not been studied in great detail in terms of the information they receive about ODT. OBJECTIVES: To analyze what kinds of media provide people > 65 years of age with information about ODT and which sources of information affect their attitude about this subject. METHODS: A multicentric study was undertaken using a sample of people > 65 years of age stratified by sex and geographic location in southeastern Spain (n = 420). Questions about ODT and methods of receiving information were analyzed using a questionnaire. Statistical analysis was performed using SPSS version 21.0 (IBM Corp, Armonk, NY, United States). Descriptive analyses were performed with a Student t test and χ2 test. RESULTS: The questionnaire completion rate was 84% (n = 351). People aged > 65 years received information about ODT, mainly positive, from the television (82%), followed by films (35%), the radio (30%), the press (26%), family (26%), and friends (17%). Receiving information through one of the following sources was associated with a more favorable attitude toward organ donation: the family (76% vs 45%; P < .001), friends (77% vs 48%; P = .01), and the press (62% vs 49%; P = .034). CONCLUSIONS: Older people mainly receive information about ODT from the mass media. However, social and family circles have the greatest influence on their attitudes toward organ donation.

Oil Red O Is a Useful Tool to Assess Donor Liver Steatosis on Frozen Sections During Transplantation.

Oil Red O is a useful tool to assess donor liver steatosis on frozen sections during transplantation. Steatosis is a frequent finding in liver evaluation during transplantation, accounting for 9% to 26% of biopsied donor liver. The degree of macrovesicular steatosis is classified as mild, moderate, and severe; the latter is considered an absolute contraindication to liver transplantation because it is associated with poor allograft outcome. Because of the scarcity of organs, there is a debate whether livers with less severe macrovesicular steatosis are still suitable for transplant. Consequently, tools or methods that allow a more accurate intraoperative assessment of steatosis on frozen sections are mandatory. The aim of this study is to improve intraoperative evaluation of steatosis during transplantation using Oil Red O stain on liver biopsies. METHODS: Twenty consecutive liver biopsies of donors were collected during transplantation procedures from September 2017 to February 2018 at the Institute of Pathology of the University and Hospital Trust of Verona, Italy. Each liver biopsy was cut at a different thickness (3, 5, and 8 µm) and stained with both Oil Red O and conventional hematoxylin and eosin for intraoperative consultation. The degree (percentage of hepatocytes involved) of fatty changes was recorded. The results obtained during the intraoperative consultation were finally compared with the formalin-fixed and paraffin-embedded permanent section. RESULTS: Assessment of steatosis on hematoxylin and eosin frozen sections was reported as mild in 17 cases (85%), moderate in 2 cases (10%) and severe in 1 case (5%). Oil Red O frozen sections reported the following results: mild steatosis in 16 cases (80%), moderate in 2 cases (10%), and severe in 2 cases (10%). The percentage of liver steatosis obtained with Oil Red O was consistent in all cases with that of the permanent sections. The staining procedure for Oil Red O required approximately 18 minutes. CONCLUSIONS: Oil Red O special stain is a fast and inexpensive tool to improve the assessment of steatosis on frozen biopsies during liver transplantation.

Orthotopic Liver Transplantation With Elderly Donors (Over 80 Years of Age): A Prospective Evaluation.

BACKGROUND: Our main objective was to assess the clinical outcomes obtained in a single orthotopic liver transplant (OLT) hospital with donors ≥80 years of age compared to a control group of patients subjected to OLT during the same period of time with donors who were under 65 years of age. METHODS: A prospective analysis was carried out on all the OLTs performed using liver grafts from donors in a state of brain death and with an age of ≥80 years (study group) between April 2007 and January 2015. The results of the study group (n = 36) were compared with those of a control group of patients less than 65 years of age receiving transplants with grafts. RESULTS: A total of 51 potential donors ≥80 years were assessed, with a total of 36 liver transplants being carried out and their results were compared with a control group of 283 patients receiving transplants. The median follow-up time of the patients in the series was 36 months (range: 24-120 months). Graft survival at 1, 2, and 3 years was 77%, 72%, and 62%, respectively, among the patients in the study group and 79%, 73%, and 65% among the patients in the control group, and there were no statistically significant differences. Patient survival at 1, 2, and 3 years was 86%, 82%, and 75%, respectively, among the patients in the study group and 82%, 76%, and 72% among the patients in the control group, also without there being any statistically significant differences. CONCLUSIONS: There is no age limit for liver transplant donors. The use of octogenarian donors makes it possible to increase the pool of donors while providing enough safety for the recipient.

Metastatic malignant melanoma to the gallbladder. Case report and review of the literature.

Solitary metastasis of malignant melanoma (MM) to the gallbladder (GB) is rare and generally originates from skin melanoma. MM is a neoplasm with an often unpredictable course and metastases can potentially affecting all organs. The occurrence of metastasis in the GB is unusual and has only been exceptionally reported in the literature. We describe a case of an 86-year-old man with an isolated MM metastasis located within the GB presenting with symptoms mimicking acute cholecystitis. Anamnestically, he presented a history of malignant melanoma (Clark level III) resected from his left leg 17 years ago. Furthermore we provide a review of the literature with a focus on diagnostic clues to distinguish between primary versus secondary GB MMs and on the best surgical management that should be used.

Lymphnode metastasis of thyroid cancer misinterpreted as lateral aberrant thyroid 40 years before identification of primary tumor. Case report and review of the literature.

The differential diagnosis between lateral ectopic thyroid tissue with orthotopic normal gland and metastatic thyroid carcinoma is challenging. Lateral cervical site is a very rare location for ectopic tissue since only a few cases have been reported. The peculiarity of this clinical case is the finding of a thyroid carcinoma forty years after surgical resection of the ectopic thyroid lesion. This asynchronous association, never reported in literature, raises the question of the differential diagnosis between a true ectopic aberrant thyroid and an early lymph node metastasis from an occult thyroid carcinoma, evident in the primitive site many years later. Several elements, which will be matter of discussion, seem to favour the latter hypothesis.This case, although isolated, suggests that any lateral cervical mass, comprising thyroid tissue, should be regarded as a metastasis of thyroid carcinoma until proven otherwise. Carefull investigation of thyroid gland is mandatory.

Effectiveness of acellular pertussis vaccination during childhood (<7 years of age) for preventing pertussis in household contacts 1-9 years old in Catalonia and Navarra (Spain).

Pertussis vaccination with 4-5 doses of acellular vaccines is recommended in Spain to all children at 2 months to 6 years of age. The effectiveness of the acellular pertussis vaccination was assessed in this study by comparing the incidence of secondary pertussis in vaccinated (4-5 doses) and unvaccinated or partially vaccinated (0-3 doses) household contacts 1-9 years old of confirmed cases of pertussis in Spain in 2012-13. Eighty-five percent of contacts had been vaccinated with 4-5 doses of acellular pertussis vaccines. During the 2-year study period, 64 cases of secondary pertussis were detected among 405 household contacts 1-9 years old: 47 among vaccinated and 17 among unvaccinated or partially vaccinated contacts. The effectiveness for preventing secondary pertussis, calculated as 1 minus the relative risk (RR) of secondary pertussis in vaccinated vs. unvaccinated/partially vaccinated contacts, was 50 % [95 % confidence interval (CI): 19-69 %, p < 0.01] when household contacts were vaccinated using DTaP, Tdap, hexavalent or heptavalent vaccines, and it was 51.3 % (95 % CI: 21-70 %, p < 0.01) when they were vaccinated using DTaP or TdaP vaccines. The effectiveness adjusted for age, sex, pertussis chemotherapy and type of household contact was 58.6 % (95 % CI: 17-79 %, p < 0.05) when contacts were vaccinated using available acellular vaccines, and it was 59.6 % (95 % CI: 18-80 %, p < 0.01) when they were vaccinated using DTaP vaccines. Acellular pertussis vaccination during childhood was effective for preventing secondary pertussis in household contacts 1-9 years old of pertussis cases in Catalonia and Navarra, Spain.

Duchenne muscular dystrophy and epilepsy.

Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment as a possible outcome measure in multicentric clinical trials. More specifically we wished to investigate the level of training needed for achieving a good interobserver reliability in a multicentric setting. The scale was specifically designed for ambulant children with Duchenne Muscular Dystrophy and includes 17 items that are relevant for this cohort. Thirteen Italian centers participated in the study. In the first phase of the study we provided two training videos and an example of the scale performed on a child. After the first session of training, all the 13 examiners were asked to send a video with an assessment performed in their centre and to score all the videos collected. There were no difficulties in performing the items and in obtaining adequate videos with a hand held camera but the results showed a poor interobserver reliability (<.5). After a second training session with review and discussion of the videos previously scored, the same examiners were asked to score three new videos. The results of this session had an excellent interobserver reliability (.995). The level of agreement was maintained even when the same videos were rescored after a month, showing a significant intra-observer reliability (.95). Our results suggest that the NSAA is a test that can be easily performed, completed in 10 min and can be used in a multicentric setting, providing that adequate training is administered.

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function.

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.

OBJECTIVE: To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. METHODS: One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity were assessed at baseline and at weeks 5 and 13. RESULTS: Between January and September 2004, 107 patients aged 30 to 154 months were enrolled. PB was well tolerated, with only one child withdrawing because of adverse events. Mean improvement in functional score was 0.60 in the PB arm and 0.73 in placebo arm (p = 0.70). Changes in the secondary endpoints were also similar in the two study arms. CONCLUSIONS: Phenylbutyrate was not effective at the regimen, schedule, and duration used in this study.

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.

The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

BACKGROUND: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13-15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families. OBJECTIVE: To study clinically and genetically 12 Italian families with HSP and TCC. METHODS: The authors investigated 18 affected and 30 healthy individuals from 12 unrelated Italian families with recessive HSP-TCC. Clinical, neurophysiologic, and neuroradiologic studies were undertaken. All patients were negative for SPG7 mutations. Genetic linkage analyses were carried out with polymorphic DNA markers on 15q13-15. RESULTS: Five families were consistent with linkage, thus defining a 19.8-cM region between markers D15S1007 and D15S978, encompassing the SPG11 interval. In one consanguineous family, linkage could be firmly excluded, confirming genetic heterogeneity. Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes. CONCLUSION: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13-15.

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.

Ehlers-Danlos syndrome type IV (EDS-IV) is an autosomal-dominant disorder caused by a defect of type III collagen which leads to ruptures of arteries and hollow organs. Neurological presentation with muscle involvement and flexion contractures of the finger joints is uncommon. We clinically characterized seven members of a family with EDS-IV. The index patient, a young woman with an acrogeric face, suffered chronic muscle pain and cramps, Achilles tendon retraction, finger flexion contractures and seizures. The mother had similar features and had experienced an ischemic stroke. Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. A glycine substitution, p.G883V, within the triple helix of the alpha 1(III) chain, was found in the index patient and in the mother. The maternal grandfather and an aunt each had an abdominal aortic aneurysm, the rupture of which was the cause of death in the latter, at 40 years of age. Surprisingly, we found the mutation, as a mosaic, in the asymptomatic maternal grandmother. This expands the clinical spectrum of EDS type IV and confirms that in some families mosaicism can be identified as the source of the mutation.

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.

BACKGROUND: X-Linked myopathy with excessive autophagy (XMEA) is a childhood-onset slowly progressive disease of skeletal muscle with no cardiac, nervous system, or other organ involvement. Pathology is distinctive: membrane-bound autophagic vacuoles, multifold reduplication of the basement membrane, and intense deposition of membrane attack complex and calcium at the myofiber surface. XMEA has been linked to the most telomeric 10.5 cM of Xq28. The authors now report identification of new families, refinement of the locus, mapping of genes to the region, and screening of candidate genes for mutations. METHODS AND RESULTS: Seven new families were ascertained, including an American family with XMEA. Using 11 new microsatellite genetic markers, the authors fine-mapped a recombination in this family and a common ancestral haplotype in two French families, which localized the gene in a 4.37-Mb region. Sequence data were assembled from public and private databases and a near-continuous sequence derived for the entire region. With this sequence, a gene map of 82 genes and 28 expressed sequence tag clusters was constructed; to date, 12 candidate genes have been screened for mutations. CONCLUSIONS: This study doubles the number of reported families with XMEA and more firmly establishes its distinctive clinicopathologic features. It also advances the search for the XMEA causative defect by reducing the disease locus to approximately half its previous size, assembling an almost complete sequence of the refined region, identifying all known genes in this sequence, and excluding the presence of mutations in 10% of these genes.

Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.

Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with core-like lesions and mitochondrial abnormalities in muscles are described. Involvement of the Ryanodine receptor 1 gene was excluded. In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism.