Virucidal effect of mouthwash on acyclovir-resistant herpes simplex virus.

OBJECTIVES: The symptoms of herpes simplex viruses type 1 (HSV-1) infections might be severe and persistent in immunocompromised patients in whom they reactivate at a high frequency. The development of Acyclovir (ACV) resistant strains due to long-term treatment with antiviral agents in those patients is not uncommon. The aim of the present study was to assess the virucidal effect of commercially available mouthwashes against ACV-resistant HSV-1 strains. MATERIALS AND METHODS: Two acyclovir-resistant HSV-1 strains were exposed for 30 s to essential oil-based (Listerine Fresh Burst® and Listerine Zero®), chlorhexidine gluconate 0.2% (Hexidyl®) and povidone-iodine 7.5% (Betadine Gargle®) mouthwashes. Loss of virus infectivity was determined by means of plaque reduction assays in a cell culture system. RESULTS: All 4 of the tested solutions significantly reduced virus infectivity, with the essential oil-based and povidone-iodine mouthwashes being slightly more efficacious, compared to chlorhexidine. CONCLUSION: The findings of this analysis revealed that the tested oral rinses demonstrated in-vitro antiviral activity against ACV-resistant HSV. Comparative clinical trials are required to establish the clinical effectiveness of daily use of oral rinses in reducing the appearance of oral HSV lesions in immunocompromised patients.

Exposure estimates of phthalates and DINCH from foods and personal care products in comparison with biomonitoring data in 24-hour urine from the Norwegian EuroMix biomonitoring study.

Phthalates are diesters of phthalic acid and have been widely used as plasticizers in polyvinyl chloride (PVC) plastics. Phthalates are also used as excipients in pharmaceuticals and personal care products (PCPs). Phthalates can migrate from the plastic into the air, water and food, and humans can be exposed via multiple pathways such as dermal, oral and inhalation. There is evidence that phthalates can induce reproductive and developmental toxicity not only in experimental animals but also in humans through disruption of estrogenic activity. The aim of this study was to collect concentration data on five phthalates in foods and PCPs from the scientific literature and combine these with food consumption data and PCP use frequency data from the EuroMix biomonitoring (BM) study in order to assess exposure. Probabilistic exposure assessments of phthalates were performed from foods and PCPs. Due to the very limited data available in the literature for DINCH, an exposure assessment was not carried out for this compound. The food groups with the highest contribution to phthalates exposure were: beverages, dairy, bread and meat products. The exposure estimates were compared with the measured phthalate metabolite levels from 24-hour urine samples. Regarding the oral route, measured phthalate exposure was between the lower bound (LB) and medium bound (MB) estimated exposure for all phthalates, except for DEP. The measured exposure from urine correlated with the estimated exposure from food for DEHP and DBP, while for BBP and DEP it correlated with the exposure estimates from PCPs. There were no significant differences between the BM data and the estimated exposure, except for DINP for males (p = 0.01). The LB and MB phthalate exposures estimated from foods and PCPs and the measured exposure from the urine were considerably lower than their respective tolerable daily intake (TDI) values established by the European Food Safety Authority (EFSA) and the World Health Organization (WHO). For the upper bound (UB), the exposure estimates are approximately double the TDI; however, this is regarded as a worst-case estimate and has low correlation with the measured exposure.

The Norwegian biomonitoring study from the EU project EuroMix: Levels of phenols and phthalates in 24-hour urine samples and exposure sources from food and personal care products.

BACKGROUND: Exposure to multiple chemicals occurs daily through several routes; diet, inhalation and dermal contact. Real-life exposure assessment is needed to understand the risk. Therefore, a human biomonitoring (BM) study was performed to examine the plausibility of source-to-dose calculations for chemical mixtures in the Horizon 2020 EuroMix project. OBJECTIVES: To provide a detailed description of the design of the EuroMix BM study, and to present the initial results for urinary phenols and phthalates and to describe their exposure determinants from foods and personal care products (PCPs). METHOD: Adults (44 males and 100 females) kept detailed diaries on their food consumption, PCP use and handling of cash receipts. Urine samples were collected over the same 24-hour period. Urinary levels of four parabens, five bisphenols, oxybenzone/benzophenone-3 (OXBE), triclosan (TCS), triclocarban (TCC) and metabolites of eight phthalates and 1,2-cyclohexane dicarboxylic acid diisononyl ester (DINCH) were analysed by ultra-high-performance liquid chromatography and tandem mass spectrometry. Multivariable linear regressions were performed between PCPs/food categories and each dependent chemical variable separately, and were only sex-stratified when an interactions between sex and the independent variable was significant. RESULTS: The detection rate for the metabolites of phthalates and DINCH, and bisphenol A (BPA) and TCS in urine was 88-100%, while bisphenol S (BPS) and bisphenol F (BPF) were only found in 29% and 4% of the urine samples, respectively. Bisphenol B (BPB), bisphenol AF (BPAF) and TCC were not detected. Food groups associated with phenol exposure were meat, bread, beverages and butter and oil. Food determinants for phthalate exposure were sweets, butter and oil, fruit and berries and other foods. The only positive association between the use of PCPs and phenols was found between BPA and lip gloss/balm. Phthalate exposure was associated with the use of shower gel, hand cream (females), toothpaste, anti-wrinkle cream (females) and shaving products (males). CONCLUSION: The participants in the EuroMix BM study were exposed to a mixture of phenols and phthalates. A variety of food categories and PCPs were found to be possible sources of these chemicals. This indicates a complex pattern of exposure to numerous chemicals from multiple sources, depending on individual diet and PCP preferences.

[One-year results after Cypass implantation]. / 1-Jahres-Ergebnisse nach Cypass-Implantation.

BACKGROUND: The Cypass Microstent (Transcend Medical, Menlo Park, CA, USA) is a biocompatible polyamide implant that is implanted in the suprachoroidal space and improves the flow of the aqueous humour via the uveoscleral pathway. MATERIAL AND METHODS: In a retrospective clinical study 162 patients (220 eyes) with an average age of 71.8 (±14.2) years with a mild to moderate glaucoma were treated with a Cypass implant. In the study three groups of patients (group 1, group 2 and group 3) were formed. Group 1 included patients with pseudophakia who received a Cypass implant, group 2 consisted of patients with a Cypass implant combined with phacoemulsification and implantation of an intraocular lens (Phako/HKL) and group 3 included patients who had had multiple eye surgeries before the Cypass implantation. The follow-up period of the study was 1 year. RESULTS: The mean preoperative intraocular pressure (IOP) in group 1 was 20.0 (±8.4) mm Hg and in group 2 was 20.8 (±8.7) mm Hg. The mean IOP fell to 17.7 (±7.1) mm Hg in group 1 (pressure reduction: 11.7%, p < 0.05) and in group 2 to 18.0 (±7.0) mm Hg (pressure reduction: 13.4%, p > 0.05) 12 months postoperatively. The decrease of IOP in group 3 after 1 year was 11.2%. In 20.5% of the cases (45 eyes), additional operative pressure reducing interventions was performed because the target pressure was not achieved. CONCLUSION: After 1 year patients in group 2 showed a significantly similar reduction in pressure as group 1. Additionally, both groups showed a reduction in the number of locally applied antiglaucoma agents. The reduction of the IOP in group 3 was not significant after 12 months, in contrast to the other two groups.

Blame It on the Metabolite: 3,5-Dichloroaniline Rather than the Parent Compound Is Responsible for the Decreasing Diversity and Function of Soil Microorganisms.

Pesticides are key stressors of soil microorganisms with reciprocal effects on ecosystem functioning. These effects have been mainly attributed to the parent compounds, while the impact of their transformation products (TPs) has been largely overlooked. We assessed in a meadow soil (soil A) the transformation of iprodione and its toxicity in relation to (i) the abundance of functional microbial groups, (ii) the activity of key microbial enzymes, and (iii) the diversity of bacteria, fungi, and ammonia-oxidizing microorganisms (AOM) using amplicon sequencing. 3,5-Dichloroaniline (3,5-DCA), the main iprodione TP, was identified as a key explanatory factor for the persistent reduction in enzymatic activities and potential nitrification (PN) and for the observed structural changes in the bacterial and fungal communities. The abundances of certain bacterial (Actinobacteria, Hyphomicrobiaceae, Ilumatobacter, and Solirubrobacter) and fungal (Pichiaceae) groups were negatively correlated with 3,5-DCA. A subsequent study in a fallow agricultural soil (soil B) showed limited formation of 3,5-DCA, which concurred with the lack of effects on nitrification. Direct 3,5-DCA application in soil B induced a dose-dependent reduction of PN and NO3--N, which recovered with time. In vitro assays with terrestrial AOM verified the greater toxicity of 3,5-DCA over iprodione. "Candidatus Nitrosotalea sinensis" Nd2 was the most sensitive AOM to both compounds. Our findings build on previous evidence on the sensitivity of AOM to pesticides, reinforcing their potential utilization as indicators of the soil microbial toxicity of pesticides in pesticide environmental risk analysis and stressing the need to consider the contribution of TPs in the toxicity of pesticides on the soil microbial community.IMPORTANCE Pesticide toxicity on soil microorganisms is an emerging issue in pesticide risk assessment, dictated by the pivotal role of soil microorganisms in ecosystem services. However, the focus has traditionally been on parent compounds, while transformation products (TPs) are largely overlooked. We tested the hypothesis that TPs can be major contributors to the soil microbial toxicity of pesticides using iprodione and its main TP, 3,5-dichloroaniline, as model compounds. We demonstrated, by measuring functional and structural endpoints, that 3,5-dichloroaniline and not iprodione was associated with adverse effects on soil microorganisms, with nitrification being mostly affected. Pioneering in vitro assays with relevant ammonia-oxidizing bacteria and archaea verified the greater toxicity of 3,5-dichloroaniline. Our findings are expected to advance environmental risk assessment, highlighting the potential of ammonia-oxidizing microorganisms as indicators of the soil microbial toxicity of pesticides and stressing the need to consider the contribution of TPs to pesticide soil microbial toxicity.

Prevalence of hepatitis E in liver transplant recipients in Greece.

Hepatitis E virus (HEV) is a well-known cause of acute hepatitis. Immunocompromised subjects, including liver transplant recipients, are considered to be at risk for HEV infection, which occasionally follows a chronic course. The diagnosis of HEV infection in these patients must be based on HEV RNA testing, as serology has variable performance. The aim of this study was to assess the prevalence of HEV infection in liver transplant recipients in Greece by means of HEV RNA testing. Liver transplant recipients followed in the sole transplant centre in Greece were prospectively included. HEV RNA was detected by real-time RT-PCR. Positive samples were further analysed using a nested reverse transcription RT-PCR kit, which amplifies a 137-nucleotide sequence within the ORF2/ORF3 overlapping region to detect the HEV genotype and perform phylogenetic analysis. The mean age of the included patients (n = 76) was 54 years. The most common indication for liver transplantation was viral hepatitis (57%). The majority of the patients (75%) received a calcineurin inhibitor as part of their immunosuppressive regimen and had normal liver enzymes. HEV RNA was found positive in only 1/76 (1.3%) patient. Phylogenetic analysis showed that the sequence clustered into the HEV genotype 3 clade. This patient experienced an acute hepatitis flare, which nonetheless did not become chronic. The prevalence of HEV infection in liver transplant recipients in Greece is similar (1.3%) to that reported previously in other countries. Transplant physicians should be aware of this condition and its associated consequences.

Assessment of the impact of three pesticides on microbial dynamics and functions in a lab-to-field experimental approach.

The toxicity of pesticides on soil microorganisms is as an emerging area of concern. Novel and well-standardized tools could be now used to provide a robust assessment of the ecotoxicity of pesticides on soil microorganisms. We followed a tiered lab-to-field approach to assess the toxicity of three pesticides, widely used at EU level, (chlorpyrifos (CHL), isoproturon (IPU) and tebuconazole (TBZ)) on (i) the abundance of 11 microbial taxa and 8 functional microbial groups via q-PCR and (ii) the activity of enzymes involved in biogeochemical cycles via fluorometric analysis. Correlation of microbial measurements with the concentration of pesticides, and their transformation products (TPs) in soil enabled the identification of the compounds driving the effects observed. At lab tests (×1, ×2 and ×10 the recommended dose), CHL and TBZ significantly reduced the relative abundance of ammonia-oxidizing bacteria (AOB) and archaea (AOA) which recovered by the end of the study, while all pesticides induced a persistent reduction in the relative abundance of sulfur-oxidizing bacteria (SOB). The two demethylated metabolites of IPU (MD-IPU and DD-IPU) adversely affected P-cycling enzymes and leucine aminopeptidase (Leu). At field tests (×1, ×2 and ×5 the recommended dose), a persistent reduction on the relative abundance of AOA was induced by all pesticides, but only CHL and its hydrolysis product 3,5,6 trichloro-2-pyridynol (TCP) soil levels were negatively correlated with AOA relative abundance. Our findings suggest that ammonia-oxidizing microorganisms constitute the most responsive microbial group to pesticides and could be potential candidates for inclusion in pesticide risk assessment.

Unilateral asymmetrical anterior bellies of the digastric muscle in coexistence with accessory muscle bundles in the submental triangle: A rare case report.

A three-headed anterior belly of the digastric muscle (ABDM) on the right side of a 54-year old Greek male cadaver coexisted with two accessory muscle bundles (AMB) in the submental region. The left ABDM was typical. Typical ABDM was attached to the digastric fossa, while the accessory right anterior bellies to the lower border of the mandible. A muscle bundle arising from the attachment of the left ABDM to the hyoid bone was also observed fusing with the AMB of the ipsilateral side. It is of extreme importance to be aware of the submental region anatomical variations during surgery, imaging interpretation or differential diagnosis of neck masses.

Addition of cyclophosphamide and higher doses of dexamethasone do not improve outcomes of patients with AL amyloidosis treated with bortezomib.

Bortezomib, in combination with dexamethasone (VD) or with the addition of cyclophosphamide (VCD), is highly effective in patients with amyloid light-chain (AL) amyloidosis. Currently, VCD is considered as a primary regimen for patients with AL, but it is not clear whether the addition of cyclophosphamide to VD further and significantly improves efficacy, given the substantial activity of bortezomib itself. We retrospectively compared the outcomes of 101 patients with AL amyloidosis who received VD (n=59) or VCD (n=42) in two consecutive periods. Early mortality after adjustment for Mayo stage was similar. On intent to treat, a hematologic response rate was 68% for patients treated with VD and 78% for VCD (P=0.26), while complete response+very good partial response (CR+VGPR) rate was 47.5% and 35%, respectively. Higher doses of dexamethasone or twice-weekly bortezomib were not associated with significantly higher CR+VGPR rates. Organ responses occurred in similar rates between the two groups. Median survival was similar (33 vs 36 months, P=0.45) even after adjustment for Mayo stage and dose and schedule of bortezomib and dexamethasone. In conclusion, bortezomib even with low doses of dexamethasone is effective for the treatment of AL amyloidosis; higher doses of dexamethasone and addition of cyclophosphamide do not seem to have a profound effect on efficacy and survival.

Acute Haemodynamic and Echocardiographic Effects of Multiple Configurations of Left Ventricular Pacing Sites in Acute Myocardial Infarction: Experimental Study.

BACKGROUND: Left ventricular (LV) pacing is unsuccessful in a significant number of patients, mainly due to sub-optimal LV pacing location. Nevertheless, data about the impact of different pacing sites on LV function in ischaemic myocardium are scarce. The purpose of this study was to investigate the effect of combinations of alternative LV pacing sites on LV mechanics after experimental acute anterior myocardial infarction (AMI), in order to define the optimal configuration. METHODS: Atrioventricular epicardial pacing at alternative pacing sites was performed in 16 healthy pigs simultaneously, after experimental AMI. Standard right ventricular (RV) apical pacing was combined with: i) LV apex lateral wall; ii) LV basal posterior wall; iii) LV basal anterior wall, and; iv) LV basal anterior wall + LV basal posterior wall. Moreover the pacing configurations of, v) LV basal posterior wall + LV apex lateral wall; vi) LV basal posterior wall + LV basal anterior wall, and; vii) LV basal anterior wall + LV apex lateral wall were also investigated. Haemodynamic parameters, together with classic and novel echocardiographic indices were used, to evaluate the effect of each pacing combination. A speckle tracking technique using EchoPAC software was used. RESULTS: After AMI, the pacing combination of LV apex lateral wall and LV basal posterior wall had the most favourable effect on LV function, leading to similar haemodynamic and torsional effects with sinus rhythm (all variables p>0.05). CONCLUSIONS: In pig hearts after AMI, the combination of pacing LV apex lateral wall and LV basal posterior wall managed to maintain the LV function at a level comparable to the sinus rhythm.

Colon Adenoma Implicating Myasthenia Gravis: A Case Report of a Patient with Postcolectomy Complications.

We report the case of a 63-year-old patient with myasthenia gravis (MG) due to acetylcholine receptor antibodies (AChR) who underwent colectomy due to colon adenoma and developed myasthenic crisis and anastomosis leakage after surgery. The patient underwent two plasma exchanges, 4 and 6 days preoperatively, and received intravenous prednisolone and immunoglobulin infusion due to the crisis, which included primarily bulbar symptoms. The patient developed on the 10th postoperative day bowel obstruction symptoms and anastomosis leakage which required surgical repair and ileostomy. Bowel obstruction occurred in a patient with AChR related myasthenia after plasma exchange and during immunosuppression although it is more commonly reported in patients with thymoma related myasthenia.

Specifically horizontally tethered DNA probes on Au surfaces allow labelled and label-free DNA detection using SERS and electrochemically driven melting.

Controlled covalent attachment of dsDNA horizontally orientated on a gold surface is achieved through the use of a single surface-linker located approximately half way along the attached DNA probe strand. We show that horizontally oriented dsDNA on a gold surface can undergo melting and re-hybridization to target strand in solution and thus can be used for the detection of specific target DNA sequences using surface-enhanced Raman spectroscopy (SERS). We show that a range of lengths of target DNA sequences from ∼30-bases to 78-bases can be specifically hybridized to the short immobilized DNA probe sequence and adopt a horizontal orientation on the gold surface. Following thermal or electrochemically driven melting of the immobilized dsDNA, the target DNA strand diffuses away while the probe strand remains attached to the surface allowing the functionalized surfaces to be reused. The melting of the horizontally orientated immobilized dsDNA can be monitored using SERS either by employing a dye label covalently attached on the DNA target strand or by employing a binding agent selective for dsDNA. This approach of covalently immobilizing the DNA probe strand through a linker located at approximately the middle of the strand has great potential to improve the sensitivity and specificity of molecular assays that employ DNA arrays on solid surfaces.

Phylogenetic characterization of Central/Southern European lineage 2 West Nile virus: analysis of human outbreaks in Italy and Greece, 2013-2014.

In recent years, West Nile virus (WNV) lineage 2 has been spreading and causing disease outbreaks in humans and animals in Europe. In order to characterize viral diversity, we performed full-length genome sequencing of WNV lineage 2 from human samples collected during outbreaks in Italy and Greece in 2013 and 2014. Phylogenetic analysis showed that these WNV lineage 2 genomes belonged to a monophyletic clade derived from a single introduction into Europe of the prototype Hungarian strain. Correlation of phylogenetic data with geospatial information showed geographical clustering of WNV genome sequences both in Italy and in Greece, indicating that the virus had evolved and diverged during its dispersal in Europe, leading to the emergence of novel genotypes, as it adapted to local ecological niches. These genotypes carried divergent conserved amino acid substitutions, which might have been relevant for viral adaptation, as suggested by selection pressure analysis and in silico and experimental modelling of sequence changes. In conclusion, the results of this study provide further information on WNV lineage 2 transmission dynamics in Europe, and emphasize the need for WNV surveillance activities to monitor viral evolution and diversity.

Imaging Findings of an Epidermoid Cyst Undergoing Malignant Transformation.

Malignant transformation of epidermoid cyst into squamous cell carcinoma (SCC) is rare. We report the case of a 39-year-old woman presenting with dizziness and cerebellar ataxia. MR scan revealed a mass in the left cerebropontine angle compressing the brainstem and the cerebellum, with two main components, a cystic and a solid one. The cystic component displayed imaging findings consistent with an epidermoid cyst. The solid component showed dense calcifications, low signal intensity on T1W, T2W and DW images and peripheral nodular enhancement. MR spectroscopy detected high lipid/lactate peaks and choline/creatine ratio. Imaging findings raised suspicion for malignant transformation, which was confirmed by histopathologic examination revealing an SCC. MR imaging with intravenous administration of gadolinium, DW images and MR spectroscopy can play a critical role in the diagnosis of malignant transformation of an epidermoid cyst.

Strain discrimination of Yersinia pestis using a SERS-based electrochemically driven melting curve analysis of variable number tandem repeat sequences.

Strain discrimination within genetically highly similar bacteria is critical for epidemiological studies and forensic applications. An electrochemically driven melting curve analysis monitored by SERS has been utilised to reliably discriminate strains of the bacterial pathogen Yersinia pestis, the causative agent of plague. DNA amplicons containing Variable Number Tandem Repeats (VNTRs) were generated from three strains of Y. pestis: CO92, Harbin 35 and Kim. These amplicons contained a 10 base pair VNTR repeated 6, 5, and 4 times in CO92, Harbin 35 and Kim respectively. The assay also included a blocker oligonucleotide comprising 3 repeats of the 10-mer VNTR sequence. The use of the blocker reduced the effective length of the target sequence available to bind to the surface bound probe and significantly improved the sensitivity of the discrimination. The results were consistent during three replicates that were carried out on different days, using different batches of PCR product and different SERS sphere segment void (SSV) substrate. This methodology which combines low cost, speed and sensitivity is a promising alternative to the time consuming current electrophoretic methods.

Safety and efficacy of hydroxyurea in children and adolescents with sickle/beta-thalassemia: two-year experience.

BACKGROUND: Hydroxyurea is a cytotoxic and myelosuppressive drug that has been used during recent years in the treatment of children with severe sickle cell disease. Nevertheless, questions remain regarding its role in young patients with no severe course, like sickle/beta-thalassemia (S/b-thal) patients often present. The aim of the present study was to evaluate the safety and efficacy of hydroxyurea in young patients with S/b-thal, which is the commonest form of the disease in Greece. PATIENTS-METHODS: Hydroxyurea was given in thirteen children with S/b-thal for 24 months and for that period clinical and laboratory evaluation of the children was performed. RESULTS: A reduction in pain crises and rate of hospitalization was noted. None of the patients presented with a severe clinical event, related to the disease during the study period. A significant increase in hemoglobin, hemoglobin F, mean corpuscular volume, and mean corpuscular hemoglobin and a decrease in reticulocyte count, white blood cell and platelet count, and total bilirubin level was noted. With regards to adverse events, these were transient, short-term and dose-dependable. CONCLUSIONS: To the best of our knowledge, this is the first study to specifically assess the effect of hydroxyurea therapy in young patients with S/b-thal and the results indicate is safe and efficacious in this patient cohort. Hippokratia 2015; 19 (2):172-175.

Coexpression of IL-6 and TNF-α: prognostic significance on breast cancer outcome.

Presented study was conducted to investigate the prognostic significance of the coexpression of serum interleukin-6 (IL-6) and tumor necrosis factor-a (TNF-a) in breast cancer, by correlating their presence with clinicopathological characteristics indicative of tumor progression and the overall survival of breast cancer patients. One hundred twelve consecutive patients with primary breast cancer were prospectively included and evaluated. Serum concentrations of IL-6 and TNF-a were measured by quantitative sandwich enzyme immunoassay (ELISA). Median split was used to subdivide patients with low or high IL-6 and TNF-a levels. A positive association between the expression of the two cytokines was found. The coexpression of high IL-6 and TNF-α was independently associated with extended lymph node (>3) involvement (aOR, 7.8) and lymphovascular invasion (aOR, 14.1), increasing the prognostic significance of each cytokine separately; it also provided additional prognostic information regarding survival, defining a high-risk subgroup of patients with significantly shorter survival and higher risk of death compared to patients with both cytokines low (aHR, 4.45) and patients with only one cytokine high (aHR, 3.63). Our findings suggest that the coexpression of these two cytokines could be used clinically as a useful tumor marker for the extension and the outcome of the disease.

Campylobacter jejuni meningitis in a neonate: a rare case report.

Campylobacter jejuni is a common cause of gastroenteritis especially in childhood. However, extraintestinal manifestations of C. jejuni such as bacteremia, cholecystitis, pancreatitis and osteomyelitis are rare. Meningitis in newborns caused by this organism is unusually rare. We report a case of neonatal meningitis in a 15-day old term boy caused by Campylobacter jejuni.

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.