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The North Shore-Long Island Jewish Health System Laboratories serve 15 hospitals and affiliated regional physician practices in the New York City metropolitan area, with virus testing performed at a central reference laboratory. The influenza A pandemic (H1N1) 2009 outbreak began in this area on April 24, 2009, and within weeks respiratory virus testing increased 7.5 times. In response, laboratory and client service workforces were increased, physical plant build-out was completed, testing paradigms were converted from routine screening tests and viral culture to a high-capacity molecular assay for respiratory viruses, laboratory information system interfaces were built, and same-day epidemiologic reports were produced. Daily review by leadership of data from emergency rooms, hospital facilities, and the Health System Laboratories enabled real-time management of unfolding events. The ability of System laboratories to rapidly increase to high-volume comprehensive diagnostics, including influenza A subtyping, provided key epidemiologic information for local and state public health departments. [ABSTRACT FROM AUTHOR]

Abstract Background Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases, although studies reporting small interstitial deletions involving the 2q24.1q24.2 region are rare. With the widespread clinical use of comparative genomic hybridization chromosomal microarray technology, several cryptic chromosome imbalances have outlined new genotype-phenotype correlations and isolated a number of distinctive clinical conditions. Results here we report on a girl with mental retardation and generalized hypotonia. A genome-wide screen for copy number variations (CNVs) using single nucleotide polymorphisms (SNPs) array revealed a 7.5 Mb interstitial deletion of chromosome region 2q24.1q24.2 encompassing 59 genes, which was absent in parents. The gene content analysis of the deleted region and review of the literature revealed the presence of some genes that may be indicated as good candidate in generating the main clinical features of the patient. Discussion the present case represents a further patient described in the literature with an interstitial deletion of chromosome 2q24.1q24.2. Our patient shares some clinical features with the previously reported patients carriers of overlapping 2q24 deletion. Although more cases are needed to delineate the full-blown phenotype of 2q24.1q24.2 deletion syndrome, published data and present observation suggest that hemizygosity of this region results in a clinically recognizable phenotype. Considering these clinical and cytogenetic similarities, we suggest the existence of an emerging syndrome associated to 2q24.1q24.2 region.

The COVID-19 pandemic drastically affected many areas and contexts of today's society, including school and family. Several studies focused on the worldwide effects of school closures on students' learning outcomes, context, and well-being. However, the data emerging from these studies are often inconsistent and fragmentary, highlighting the need of a comprehensive analysis of the phenomenon. This need is especially urgent for the countries with the most severe school closure, like Italy. This systematic review aims to collect the opinions of parents, teachers, and students on: other dimensions of Italian primary school students affected by school closures, beyond academic performance; hypothetical agreement between the opinions of parents, teachers, and students regarding the different effects of school closures on Italian primary school students; possible differences between the effects of school closures on Italian primary school students and the students in other countries. Our search was conducted using PRISMA 2020 guidelines on Web of Science, Pubmed, Scopus, and EBSCOHost. The results obtained from 34 articles revealed a strong concern on the part of all stakeholders involved in learning during the pandemic, with evident negative effects for Italian school students. The constraint on distance learning led to a drastic change in everyone's routine, and a negative emotional change on the part of young students. Parents and teachers generally considered distance learning to be ineffective for the education of their children and students; they encountered technical-practical difficulties in the use of electronic devices for participation in school activities; overall learning deficits on the part of students, especially in mathematics, as confirmed by INVALSI results were also found. The investigation reveals a condition of shared emotional and academic performance difficulty, and a further challenging circumstance for students previously at risk of marginalization. Further research in this field is paramount to identify new and adequate recovery strategies., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Trotta et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Several studies underlined the negative effects of forced social isolation on emotional processes in younger population. The current study aimed to review existing evidence of the pandemic's impact on the emotional regulation of Italian children aged 0-12 years in order to identify personal and contextual factors that may adversely impact their developmental process. Different electronic databases (Web of Science, APA PsycInfo, APA PsycArticles, MEDLINE, Psychology and Behavioral Sciences Collection, and Scopus) were used to identify peer-reviewed studies published in English and Italian. Thirteen studies were included in the review, covering a total of 18.843 children. All studies reported negative effects of the lockdown on a child's emotional processes. The most affected were children aged 3-5 years, those living in Northern Italy, and those with low socioeconomic status (SES) families. Alterations in emotional processes were associated with sleep disturbances, quality of family relationships, personality structures, the coping strategies used, and time spent with technological devices. Finally, two- (time × parenting) and three-way (time × parenting × environmental sensitivity) interactions resulted significantly in predicting a child's emotional regulation, respectively, in terms of externalizing and internalizing behaviors. This review remarks that children's emotional processes were negatively impacted during social lockdown, especially where acute social isolation interacted with a set of dispositional and situational risk factors.

Background: Breast cancer onset is determined by a genetics-environment interaction. BRCA1/2 gene alterations are often genetically shared in familial context, but also food intake and hormonal assessment seem to influence the lifetime risk of developing this neoplasia. We previously showed the relationship between a six-months Mediterranean dietary intervention and insulin, glucose and estradiol levels in BRCA1/2 carrier subjects. The aim of the present study was to evidence the eventual influence of this dietary intervention on the relationship between circulating miRNA expression and metabolic parameters in presence of BRCA1/2 loss of function variants., Methods: Plasma samples of BRCA-women have been collected at the baseline and at the end of the dietary intervention. Moreover, subjects have been randomized in two groups: dietary intervention and placebo. miRNA profiling and subsequent ddPCR validation have been performed in all the subjects at both time points., Results: ddPCR analysis confirmed that five (miR-185-5p, miR-498, miR-3910, miR-4423 and miR-4445) of seven miRNAs, deregulated in the training cohort, were significantly up-regulated in subjects after dietary intervention compared with the baseline measurement. Interestingly, when we focused on variation of miRNA levels in the two timepoints, it could be observed that miR-4423, miR-4445 and miR-3910 expressions are positively correlated with variation in vitaminD level; whilst miR-185-5p difference in expression is related to HDL cholesterol variation., Conclusions: We highlighted the synergistic effect of a healthy lifestyle and epigenetic regulation in BC through the modulation of specific miRNAs. Different miRNAs have been reported involved in the tumor onset acting as tumor suppressors by targeting tumor-associated genes that are often downregulated., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 De Summa, Traversa, Daniele, Palumbo, Carella, Stallone, Tufaro, Oliverio, Bruno, Digennaro, Danza, Pasanisi and Tommasi.)

A well-preserved oral function is key to accomplishing essential daily tasks. However, in geriatric medicine and gerodontology, as age-related physiological decline disrupts several biological systems pathways, achieving this objective may pose a challenge. We aimed to make a systematic review of the existing literature on the relationships between poor oral health indicators contributing to the oral frailty phenotype, defined as an age-related gradual loss of oral function together with a decline in cognitive and physical functions, and a cluster of major adverse health-related outcomes in older age, including mortality, physical frailty, functional disability, quality of life, hospitalization, and falls. Six different electronic databases were consulted by two independent researchers, who found 68 eligible studies published from database inception to September 10, 2022. The risk of bias was evaluated using the National Institutes of Health Quality Assessment Toolkits for Observational Cohort and Cross-Sectional Studies. The study is registered on PROSPERO (CRD42021241075). Eleven different indicators of oral health were found to be related to adverse outcomes, which we grouped into four different categories: oral health status deterioration; decline in oral motor skills; chewing, swallowing, and saliva disorders; and oral pain. Oral health status deterioration, mostly number of teeth, was most frequently associated with all six adverse health-related outcomes, followed by chewing, swallowing, and saliva disorders associated with mortality, physical frailty, functional disability, hospitalization, and falls, then decline in oral motor skills associated with mortality, physical frailty, functional disability, hospitalization, and quality of life, and finally oral pain was associated only with physical frailty. The present findings could help to assess the contribution of each oral health indicator to the development of major adverse health-related outcomes in older age. These have important implications for prevention, given the potential reversibility of all these factors., (© 2022. The Author(s), under exclusive licence to American Aging Association.)

Aims: To systematically review the literature assessing associations between TMDs and primary headaches., Methods: Using validated clinical criteria, studies on TMDs and primary headaches published up to January 10, 2023 were identified using six electronic databases. This review adhered to the PRISMA 2020 guidelines and 27-item checklist and is registered on PROSPERO (CRD42021256391). Risk of bias was evaluated using the National Institutes of Health Quality Assessment Toolkits for Observational Cohort and Cross-Sectional Studies., Results: Two independent investigators rated 7,697 records against the primary endpoint and found 8 records meeting the eligibility requirements. Migraine was found to be the most common primary headache related to TMDs (61.5%), followed by episodic tension-type headache (ETTH; 38.5%). A moderate association was found for mixed TMDs with migraine and ETTH, with a large sample size and multiple studies included (n = 8). A very low-quality association was found for myalgia-related TMDs with migraine and ETTH (included studies, n = 2)., Conclusion: The association between TMDs and primary headaches is of great interest given the possible effectiveness of TMD management in reducing headache intensity/frequency in patients with TMDs and headache comorbidity. A moderate association was found for mixed TMDs with primary headaches, in particular migraine and ETTH. However, owing to the overall moderate certainty of evidence of the present findings, further longitudinal studies with larger samples investigating possible associated factors and using accurate TMD and headache category assignment are needed.

In multiple sclerosis patients (MS), symptoms such as fatigue, lack of physical energy, spasticity, motor coordination disorders, tremors, dizziness and postural instability are most common. Cattaneo et al. (2007) studied the effects of stability training on MS patients, describing its efficacy in reducing all risks, by improving stability, and strength. The present study aimed to confirm our 2021 results on MS patients, combining the Taopatch® device with a proprioceptive rehabilitation protocol (PRP) targeting strength, balance, and biochemical parameters including vitamin D levels. Twenty MS patients, 8 males and 12 females, volunteered in the study. A KERN MAP Version 1.2 08/2012, Hand Grip Dynamometer was used to determine handgrip strength, whilst baropodometric and stabilometric measurements were assessed using the Sensor Medica® systems. The proprioceptive rehabilitation protocol included: 10 minutes of Motomed; 10 minutes of Human Tecar proprioceptive path; 15 minutes of physical exercises; and 15 minutes of massage therapy of whole spine. All patients wore the Taopatch photo emission devices (Tao Technologies), applied with the protocol of Carbonari B, et al. (2021) Testing procedures and blood sampling were carried out before and after the rehabilitation protocol. The paired sample t-test revealed statistically significant improvements for the baropodometric measures (p<0.05). In addition, the intervention induced a statistically significant improvement in the right (p = 0.023) and left (p = 0.021) handgrip strength. We didn't highlighted any statistically significant variation in hemathological parameters, but an increasing trend of vitamin D levels was detected. Combination of an adequate and specific rehabilitation protocol with application of Taopatch®, a photon emission device, improved handgrip strength of the upper limbs, rebalanced body structure decompensated in MS patients and also acting on vitamin D levels. In conclusion, Taopatch® is a supportive therapy for home-based PRP intervention, inducing an improvement in the quality of life and reducing spasticity associated with the disease.

In human primary dendritic cells (DC) rapamycin-an autophagy inducer and protein synthesis inhibitor-overcomes the autophagy block induced by Mycobacterium tuberculosis (Mtb) and promotes a Th1 response via IL-12 secretion. Here, the immunostimulatory activity of rapamycin in Mtb-infected DC was further investigated by analyzing both transcriptome and translatome gene profiles. Hundreds of differentially expressed genes (DEGs) were identified by transcriptome and translatome analyses of Mtb-infected DC, and some of these genes were found further modulated by rapamycin. The majority of transcriptome-associated DEGs overlapped with those present in the translatome, suggesting that transcriptionally stimulated mRNAs are also actively translated. In silico analysis of DEGs revealed significant changes in intracellular cascades related to cytokine production, cytokine-induced signaling and immune response to pathogens. In particular, rapamycin treatment of Mtb-infected DC caused an enrichment of IFN-β, IFN-λ and IFN-stimulated gene transcripts in the polysome-associated RNA fraction. In addition, rapamycin led to an increase of IL-12, IL-23, IL-1β, IL-6, and TNF-α but to a reduction of IL-10. Interestingly, upon silencing or pharmacological inhibition of GSK-3β, the rapamycin-driven modulation of the pro- and anti-inflammatory cytokine balance was lost, indicating that, in Mtb-infected DC, GSK-3β acts as molecular switch for the regulation of the cytokine milieu. In conclusion, our study sheds light on the molecular mechanism by which autophagy induction contributes to DC activation during Mtb infection and points to rapamycin and GSK-3β modulators as promising compounds for host-directed therapy in the control of Mtb infection., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.​​​​​​​​​​​​​​​​​​​​, (Copyright © 2021 Etna, Severa, Licursi, Pardini, Cruciani, Rizzo, Giacomini, Macchia, Palumbo, Stallone, Carella, Livingstone, Negri, Pellegrini and Coccia.)

Context.—: Northwell Health Laboratories were established in 1997, serving the Northwell Health system. In 2008, the health system considered minority entry into a joint venture with a commercial laboratory. Based on arguments made by Northwell laboratory leadership, the decision was made to retain full ownership of the laboratory., Objective.—: To evaluate the 10-year outcomes of the 2008 decision and assess the value of a fully integrated laboratory service line for a regional health network., Design.—: Ten-year outcomes were analyzed including financial, volume, and value-based activities., Results.—: First, a fully integrated laboratory service line was created, with unified medical and managerial leadership. Second, Core Laboratory volumes and revenues grew at annualized rates of 4.5% and 16.0%, respectively. Third, hospital-based laboratory costs were held either constant, or grew in accordance with strategic clinical programs. Fourth, laboratory services were able to provide leadership in innovative system clinical programming and value-based payment programs. Fifth, the laboratories became a regional asset, forming a joint venture affiliation with New York City Health + Hospitals, and supporting distressed hospitals in Brooklyn, New York. Lastly, Northwell Health Laboratories have become a reputational asset through leadership in 2 consortia: The Compass Group and Project Santa Fe., Conclusions.—: The 10-year outcomes have exceeded projections made in 2008, validating the decision to retain the laboratories as a wholly owned system asset. The laboratories are now well positioned for leading innovation in patient care and for helping to drive a favorable posture for the health system under new payment models for health care.

The peripheral hearing alterations and central auditory processing disorder (CAPD) associated with age-related hearing loss (ARHL), may impact cognitive disorders in older age. In older age, ARHL is also a significant marker for frailty, another age-related multidimensional clinical condition with a nonspecific state of vulnerability, reduced multisystem physiological reserve, and decreased resistance to different stressors (i.e. sensorial impairments, psychosocial stress, diseases, injuries). The multidimensional nature of frailty required an approach based on different pathogeneses because this clinical condition may include sensorial, physical, social, nutritional, cognitive, and psychological phenotypes. In the present narrative review, the cumulative epidemiological evidence coming from several longitudinal population-based studies, suggested convincing links between peripheral ARHL and incident cognitive decline and dementia. Moreover, a few longitudinal case-control and population-based studies also suggested that age-related CAPD in ARHL, may be central in determining an increased risk of incident cognitive decline, dementia, and Alzheimer's disease (AD). Cumulative meta-analytic evidence confirmed cross-sectional and longitudinal association of both peripheral ARHL and age-related CAPD with different domains of cognitive functions, mild cognitive impairment, and dementia, while the association with dementia subtypes such as AD and vascular dementia remained unclear. However, ARHL may represent a modifiable condition and a possible target for secondary prevention of cognitive impairment in older age, social isolation, late-life depression, and frailty. Further research is required to determine whether broader hearing rehabilitative interventions including coordinated counseling and environmental accommodations could delay or halt cognitive and global decline in the oldest old with both ARHL and dementia., Competing Interests: Conflict of interest statement: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Introduction: The amyloid hypothesis of Alzheimer's disease (AD) affirms that brain accumulation of amyloid-β (Aβ) oligomers and soluble aggregates represent the major pathological event of the disease. Several anti-Aβ small organic molecules, monoclonal antibodies and antigens were developed to interfere with Aβ production and clearance, including β-site amyloid precursor protein cleaving enzyme (BACE) inhibitors, blocking the first enzymatic step of Aβ formation. All these approaches, including BACE inhibitors, have failed in large randomized clinical trials (RCTs) in mild-to-moderate AD, but further studies are now being carried out in patients at early AD stages and in asymptomatic subjects at risk of developing AD. Areas covered: The paper provides a comprehensive review of BACE inhibitors for AD treatment, focusing on the most advanced compounds in Phase III RCTs. Expert commentary: BACE inhibitors inhibited robustly, and dose-dependently, Aβ formation in cerebrospinal fluid of AD patients, but without cognitive, clinical, or functional benefit in large RCTs. BACE inhibition may be not sufficient to decrease brain Aβ plaques and aggregates. Indeed, several BACE inhibitors were found to be poorly tolerated and some of them failed also in patients with prodromal AD. This may indicate that blocking the formation of nascent Aβ is not useful in AD.

Non-recurrent microdeletion (≤2 Mb in size) in 7p22.1 is a rarely described cytogenetic aberration, only recently reported in patients with developmental delay/intellectual disability, short stature and microcephaly. The size of the deletions ranged from 0.37 to 1.5 Mb, and reported genotype-phenotype correlations identified a minimum deleted region of 0.37 Mb involving the FBLX18, ACTB, FSCN1, RNF216 and ZNF815P genes. The authors suggested that deletion of ACTB, which encodes β-actin, an essential component of the cytoskeleton, could be responsible for the clinical features observed in the patients with a 7p22.1 microdeletion. Here, we describe a 23-month-old child displaying developmental delay, short stature, microcephaly and distinctive facial features. Chromosomal microarray analysis performed using high-resolution SNP-array platform revealed a de novo interstitial 60 Kb microdeletion in the 7p22.1 region (from 5,509,127 bp to 5,569,096 bp, hg19) encompassing only two genes: FBXL18 and ACTB. To the best of our knowledge, this is the smallest deletion at 7p22.1 to date reported in medical literature (Pubmed). Combining our data with phenotypic and genotypic data of cases from literature, we were able to narrow the minimal critical region, which contained only two genes, i.e., FBXL18 and ACTB. Our finding is useful to perform a more accurate genotype-phenotype correlation and strongly strengthen the hypothesis that haploinsufficiency of ACTB is the main cause of the clinical phenotype observed in the patients with 7p22.1 microdeletions, facilitating genetic diagnosis and counseling., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature. The PARK2 gene is a neurodevelopmental gene that was initially discovered as one of the causes of autosomal recessive juvenile Parkinson disease and subsequently reported to be linked to autism spectrum disorders and attention-deficit hyperactivity disorders. We provide an overview of the literature on PARK2 microduplications and further delineate the associated phenotype. Taken together, our findings confirm the involvement of this gene in neurodevelopmental disorders and are useful to strengthen the hypothesis that, although with variable expressivity and incomplete penetrance, the PARK2 microduplication is associated with a new emerging neurodevelopmental delay syndrome. However, clinical and molecular evaluations of more patients with the microduplication are needed for full delineation of this syndrome.

From 2009 to 2015, the laboratories of the 19-hospital North Shore-LIJ Health System experienced 5 threatened interruptions in service and supported 2 regional health-care providers with threatened interruptions in their laboratory service. We report our strategies to maintain laboratory performance during these events, drawing upon the strengths of our integrated laboratory service line. Established in 2009, the laboratory service line has unified medical and administrative leadership and system-wide divisional structure, quality management, and standardization of operations and procedures. Among many benefits, this governance structure enabled the laboratories to respond to a series of unexpected events. Specifically, at our various service sites, the laboratories dealt with pandemic (2009), 2 floods (2010, 2012), 2 fires (2010, 2015), and laboratory floor subsidence (2013). We were also asked to provide support for a regional physician network facing abrupt loss of testing services from closure of another regional clinical laboratory (2010) and to intervene for a non-health system hospital threatened with closure owing to noncompliance of laboratory operations (2012). In all but a single instance, patient care was served without interruption in service. In the last instance, fire interrupted laboratory services for 30 minutes. We conclude that in a large integrated health system, threats to continuous laboratory operations are not infrequent when measured on an annual basis. While most threats are from external physical circumstances, some emanate from unexpected administrative events. A strong laboratory governance mechanism that includes unified medical and administrative leadership across the entirety of the laboratory service line enables successful responses to these threats., Competing Interests: Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Alterations in the balance of mRNA and microRNA (miRNA) expression profiles contribute to the onset and development of colorectal cancer. The regulatory functions of individual miRNA-gene pairs are widely acknowledged, but group effects are largely unexplored. We performed an integrative analysis of mRNA-miRNA and miRNA-miRNA interactions using high-throughput mRNA and miRNA expression profiles obtained from matched specimens of human colorectal cancer tissue and adjacent non-tumorous mucosa. This investigation resulted in a hypernetwork-based model, whose functional backbone was fulfilled by tight micro-societies of miRNAs. These proved to modulate several genes that are known to control a set of significantly enriched cancer-enhancer and cancer-protection biological processes, and that an array of upstream regulatory analyses demonstrated to be dependent on miR-145, a cell cycle and MAPK signaling cascade master regulator. In conclusion, we reveal miRNA-gene clusters and gene families with close functional relationships and highlight the role of miR-145 as potent upstream regulator of a complex RNA-RNA crosstalk, which mechanistically modulates several signaling pathways and regulatory circuits that when deranged are relevant to the changes occurring in colorectal carcinogenesis., (© The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions., (Copyright © 2013 Elsevier B.V. All rights reserved.)

CHARGE syndrome is an autosomal dominant inherited disorder characterized by a specific and recognizable pattern of anomalies. De novo mutations or deletions of the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. In this report, we describe a patient with a typical phenotype characterized by psychomotor retardation, hypertrichosis, facial asymmetry, synophria, failure to thrive, developmental delay and gastro-esophageal reflux, carrying a de novo 6.04Mb interstitial deletion in 8q12.1q12.3 detected by single nucleotide polymorphism (SNP) array analysis. Despite the deletion includes CHD7 and although the patient shares some of the clinical features of the CHARGE syndrome, she does not fulfill the clinical criteria for this syndrome. To the best of our knowledge, this is the second case with an entire deletion of the CHD7 gene not leading to CHARGE syndrome and, for this reason, useful to expand and further delineate the clinical features associated with the 8q12.1q12.3 deletion. Furthermore, the literature review revealed that the phenotype secondary to duplications of the same region partially overlaps with the phenotype reported in this study. Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient, are discussed in context of the clinical features., (Copyright © 2012 Elsevier B.V. All rights reserved.)

We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, MIM 603302). By comparing the clinical manifestations of our patient with those of patients carrying similar rearrangements, we confirmed that 16p13.3 microduplications of the Rubinstein-Taybi region result in a recognizable clinical condition that likely represents a single gene disorder. In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

Purpose: To evaluate the involvement of Visual System Homeobox 1 (VSX1), Secreted Protein Acidic and Rich in Cysteine (SPARC), Superoxide Dismutase 1 (SOD1), Lysyl Oxidase (LOX), and Tissue Inhibitor of Metalloproteinase 3 (TIMP3) in sporadic and familial keratoconus., Methods: Mutational analysis of the five genes was performed by sequencing and fragment analysis in a large cohort of 302 Italian patients, with a diagnosis of keratoconus based on clinical examination and corneal topography. The variants identified in VSX1 and SPARC were also assessed in the available relatives of the probands., Results: A novel mutation p.G239R and previously reported mutations were found in VSX1. Novel and already reported variants were identified in SPARC and SOD1, whose pathogenic significance has not been established. No pathogenic variants have been identified in LOX and TIMP3., Conclusions: Molecular analysis of the five genes in a cohort of 225 sporadic and 77 familial keratoconus cases confirms the possible pathogenic role of VSX1 though in a small number of patients; a possible involvement of LOX and TIMP3 could be excluded; and the role played by SOD1 and SPARC in determining the disease as not been definitively clarified. Further studies are required to identify other important genetic factors involved in the pathogenesis and progression of the disease that in the authors' opinion, and according with several authors, should be considered as a complex disease.

Background: In an effort to reduce overall laboratory costs and improve overall laboratory efficiencies at all of its network hospitals, the North Shore-Long Island Health System recently established a Consolidated Laboratory Network with a Core Laboratory at its center., Methods: We established and implemented a centralized Core Laboratory designed around the Roche/Hitachi CLAS Total Laboratory Automation system to perform the general and esoteric laboratory testing throughout the system in a timely and cost-effective fashion. All remaining STAT testing will be performed within the Rapid Response Laboratories (RRLs) at each of the system's hospitals., Results: Results for this laboratory consolidation and implementation effort demonstrated a decrease in labor costs and improved turnaround time (TAT) at the core laboratory. Anticipated system savings are approximately $2.7 million. TATs averaged 1.3 h within the Core Laboratory and less than 30 min in the RRLs., Conclusions: When properly implemented, automation systems can reduce overall laboratory expenses, enhance patient services, and address the overall concerns facing the laboratory today: job satisfaction, decreased length of stay, and safety. The financial savings realized are primarily a result of labor reductions.

Lab automation and consolidation can be a daunting, risky, major reengineering project. Done right, it can mean decreased labor costs and space requirements, increased test volume, and more efficient use of personnel. See how this health system got the job done using a carefully defined, seven-step plan.

During an 11 1/2-year period, 20 consecutive patients presenting with a traumatic disruption of the proximal descending aorta underwent an emergency operative repair. The mean age was 26 years (range 15 to 62), and 13 (65%) were male. Associated injuries were frequent and required additional major operative procedures in half of the cases. Two patients died as a result of associated intracranial injuries, for a hospital survival of 90%. The operative repair was accomplished by graft replacement of the involved segment of the aorta in all but one patient who underwent a primary repair. Simple aortic crossclamping was used in 8 patients (40%) and heparinless femoral-femoral venoarterial bypass in 12 patients (60%). Neither renal failure nor paraplegia in any of the patients. Four patients required thoracic reoperations. These results indicate that an aggressive multidisciplinary surgical approach can produce favorable results in patients with traumatic descending aortic injuries.