Collagenous matrix supported by a 3D-printed scaffold for osteogenic differentiation of dental pulp cells

Objective

A systematic characterization of hybrid scaffolds, fabricated based on combinatorial additive manufacturing technique and freeze-drying method, is presented as a new platform for osteoblastic differentiation of dental pulp cells (DPCs).

Extrahepatic, nonneoplastic, fat-containing lesions of the abdominopelvic cavity: spectrum of lesions, significance, and typical appearance on multidetector computed tomography

Fat may be noted in a diffuse or focal manner in a variety of nonneoplastic abdominopelvic conditions. The specific signature of macroscopic fat on computed tomography along with the usually characteristic findings of these entities makes the diagnosis of most of these conditions relatively straightforward. In the intestinal tract, the "fat halo sign" usually arises in the context of subacute to chronic bowel wall inflammation. Excess fat in the renal sinus may occur with renal sinus lipomatosis or "replacement lipomatosis of the kidney." Some cases of "pancreatic lipomatosis" may culminate in steatopancreatitis and ultimately neoplastic transformations. "Fibrofatty mesenteric proliferation" is a characteristic feature of Crohn disease. In the setting of the acute abdomen, accurate diagnosis of fat-containing lesions (epiploic appendagitis or omental infarction) from other causes of the acute abdomen is critical. Mesenteric panniculitis is 1 of the causes of the "misty mesentery." Juxtacaval fat deposition is a benign process that has the potential to be confused with more serious conditions. More diffuse fat deposition (abdominal or pelvic lipomatosis) has the potential to become symptomatic by causing mass effect upon the adjacent structures. Fat can also be seen in a variety of postoperative/iatrogenic conditions or abdominal wall/diaphragmatic hernias.     

Errors of epinephrine administration during severe allergic-like contrast reactions: lessons learned from a bi-institutional study using high-fidelity simulation testing

Purpose

To determine the most common errors of epinephrine administration during severe allergic-like contrast reaction management using high-fidelity simulation surrogates.

Materials and methods

IRB approval and informed consent were obtained for this HIPAA-compliant bi-institutional prospective study of 40 radiology residents, fellows, and faculty who were asked to manage a structured high-fidelity severe allergic-like contrast reaction scenario (i.e., mild hives progressing to mild bronchospasm, then bronchospasm unresponsive to bronchodilators, and finally anaphylactic shock) on an interactive manikin. Intravenous (IV) and intramuscular epinephrine ampules were available to all participants, and the manikin had a functioning intravenous catheter for all scenarios. Video recordings of their performance were reviewed by experts in contrast reaction management, and errors in epinephrine administration were recorded and characterized.

Results

No participant (0/40) failed to give indicated epinephrine, but more than half (58% [23/40]) committed an error while doing so. The most common mistake was to administer epinephrine as the first-line treatment for mild bronchospasm (33% [13/40]). Other common errors were to administer IV epinephrine without a subsequent IV saline flush or concomitant IV fluids (25% [10/40]), administer an overdose of epinephrine (8% [3/40]), and administer epinephrine 1:1000 intravenously (8% [3/40]).

Conclusion

Epinephrine administration errors are common. Many radiologists fail to administer albuterol as the first-line treatment for mild bronchospasm and fail to flush the IV catheter when administering IV epinephrine. High-fidelity contrast reaction scenarios can be used to identify areas for training improvement.     

The cypriot and Iranian National Mutation Frequency Databases

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-to-use query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.     

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, syndactyly of the fingers, and hypoplastic thumbs. The patient now four years old, has a normal twin sister, and the parents are unrelated. The abnormal 16p was originally detected by banding cytogenetic techniques, and was characterized by multicolour banding fluorescence in situ hybridization (MCB). The MCB pattern on the derivative chromosome 16 indicated a direct duplication of the region 16p11.2 to 16p13.1.     

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature. By autozygosity mapping we identified one region with a significant LOD score on chromosome 9(p24.2-24.3). The interval contains the VLDLR gene, which codes for the very low-density lipoprotein receptor. This protein is part of the reelin signalling pathway, which is involved in neuroblast migration in the cerebral cortex and cerebellum. A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES). The reported deletion however, contains an additional brain expressed gene of unknown function, whose involvement in the aetiology of the phenotype could so far not be excluded. We screened the coding region of VLDLR for mutations in our patients and found a homozygous c.1342C>T nucleotide substitution, which leads to a premature stop codon in exon 10. This is the first report of a mutation in patients with DES that affects VLDLR exclusively, confirming the central role of the very low-density lipoprotein receptor in the aetiology of this condition.     

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was approximately 1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.