The frequency of lung cancer in patients with pulmonary hamartomas: An evaluation of clinical, radiological, and pathological features and follow-up data of 96 patients with pulmonary hamartomas.

PURPOSE: To investigate the frequency of lung cancer in patients with pulmonary hamartomas and to evaluate clinical, radiological, and pathological characteristics of pulmonary hamartomas. BASIC PROCEDURES: We reviewed pathology records of pulmonary hamartomas diagnosed between 2003 and 2014. Medical records and the hospital electronic database were also reviewed for each patient to obtain clinical, radiological, and pathological characteristics of pulmonary hamartomas and accompanying malignancies. MAIN FINDINGS: Ninety-six patients with pulmonary hamartomas were identified. There were 26 females (27%) and 70 males (73%), with a mean age of 56.2 years (range 22-87 years). Malignancies were detected in 23 patients (24%), which developed previously in five patients (1 synchronous, 4 metachronous lesions), and concomitantly in 18 patients (with origin from the lung in 17 patients and from the pleura in 1 patient). PRINCIPAL CONCLUSIONS: Our results show that patients with pulmonary hamartomas may have coexisting lung malignancies.

Predictive value of morphological features in patients with autism versus normal controls.

We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features.

Minor physical anomalies in autism: a meta-analysis.

Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences play a causal role. Despite the compelling evidence for a strong heritability, the etiology and molecular mechanisms underlying autism remain unclear. High phenotypic variability and genetic heterogeneity confounds the identification of susceptibility genes. The lack of robust indicators to tackle this complexity in autism has led researchers to seek for novel diagnostic tools to create homogenous subgroups. Several studies have indicated that patients with autism have higher rates of minor physical anomalies (MPAs) and that MPAs may serve as a diagnostic tool; however, the results have been inconsistent. Using the cumulative data from seven studies on MPAs in autism, this meta-analysis seeks to examine whether the aggregate data provide evidence of a large mean effect size and statistical significance for MPAs in autism. It covers the studies using multiple research methods till June 2007. The current results from seven studies suggested a significant association of MPAs in autism with a robust pooled effect size (d=0.84), and thereby provide the strongest evidence to date about the close association between MPAs and autism. Our results emphasize the importance of MPAs in the identification of heterogeneity in autism and suggest that the success of future autism genetics research will be exploited by the use of MPAs. Implications for the design of future studies on MPAs in autism are discussed and suggestions for further investigation of these important markers are proposed. Clarifying this relation might improve understanding of risk factors and molecular mechanisms in autism.

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.

[Possible teratogenic effects of thiamazole]. / Mogelijke teratogene invloed van thiamazol.

A newborn male presented with choanal atresia and minor dysmorphic facial features. At 4 years of age he showed delayed speech and language development. His mother had been treated with thiamazole for pre-existing hyperthyroidism during the first 3 months of pregnancy. It is possible that the maternal use of thiamazole caused the congenital anomalies. Embryopathy caused by maternal thiamazole use during pregnancy has been described several times before and is mainly characterised by choanal atresia, oesophageal atresia, minor dysmorphic facial features, growth retardation and delayed psychomotor development. Because the use of propylthiouracil during pregnancy has not been associated with similar effects, it is the treatment of choice for hyperthyroidism during pregnancy. For pregnant women or women who wish to become pregnant, thiamazole should be prescribed only ifpropylthiouracil cannot be used.

Turkish hospital management at a crossroads: prospects for the year 2000.

The Turkish health system has been undergoing a radical reform process since the early 1990s. Reform proposals, based on purchaser/provider split, self-governing hospitals (ultimately leading to full privatization), compulsory health insurance etc., are expected to have a profound effect on hospital management. In such an environment, hospital administrators' views on the domains and issues that will come to the fore in the year 2000 gain importance. In this paper, results of a study undertaken among hospital administrators are presented. The study aimed to find the views of hospital administrators on issues likely to gain prominence in the year 2000 and the skills, knowledge, and abilities required to tackle these issues. It was concluded the autonomous status of hospitals, privatization, competition, and health trusts will become the central domains in the year 2000 in hospital administration. Innovation and following technological developments were considered most critical.