Structural and copy number chromosome abnormalities in canine cutaneous mast cell tumours

Abstract

Mast cell tumours (MCTs) are the most common skin tumours in dogs. Their clinical behaviour is variable and their aetiology remains largely unknown. We performed a metaphase fluorescence in situ hybridisation (FISH) with whole chromosome painting probes, and interphase FISH with BAC probes for 14 cancer-related genes to reveal clonal structural chromosome rearrangements and copy number variants (CNVs) in canine cutaneous MCTs. The metaphase FISH performed in three MCTs revealed several clonal monosomies and trisomies and two different chromosome rearrangements. No centric fusions were detected. The interphase FISH showed a variety of low frequency CNVs for the individual cancer-related genes. The heterogeneous character of the detected abnormalities indicates increased chromosome instability in canine MCTs. The clonal gain of chromosome 11 was detected in 81% (13/16) of the MCTs. Further research is needed to evaluate the significance of this abnormality as prognostic factor for the survival time or recurrence risk assessments in canine cutaneous MCTs.

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Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

Abstract

Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studies of ASD families with high inbreeding enable the identification of inherited variants of this disorder particularly those with an autosomal recessive pattern of inheritance. In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI). This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. A possible contribution of SH2D6 gene, as a part of a chimeric gene, to the clinical presentation of the patient is discussed. Our result supports the implication of ELMOD3 in hearing loss and highlights the potential clinical relevance of 2p11.2 deletion in autism and/or intellectual disability.

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An extremely rare case who underwent total remnant pancreatectomy due to recurrent pancreatic metastasis of intraductal tubulopapillary neoplasm

Abstract

We describe a rare case of recurrent pancreatic metastasis of intraductal tubulopapillary neoplasm (ITPN). A 53-year-old woman diagnosed with an intraductal papillary mucinous neoplasm (IPMN) and a pancreatic ductal adenocarcinoma (PDAC) of the pancreatic body underwent a distal pancreatectomy. The tumor was composed of cuboidal, high-grade dysplastic cells proliferating in a tubulopapillary growth pattern without mucin production; hence, the final diagnosis was ITPN. A follow-up computed tomography scan revealed an enhanced 2 cm mass of the pancreatic head 3 years after the surgery. From workup investigations, the patient was diagnosed with PDAC or a recurrent ITPN of the remnant pancreas. A total remnant pancreatectomy was then performed. Histopathological findings revealed that the new ITPN had the same features as the prior ITPN. In IPMNs, the presence of an invasive component and high-grade dysplasia can lead to progression to a recurring IPMN and the development of PDAC. Because there have been few reports of recurrent ITPN developing into PDAC, the risk factors for ITPN have not been investigated. Because of the uncertain clinicopathological characteristics of ITPN, more data should be gathered to assess the long-term outcome and malignant potential of ITPN.

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Transcranial Direct Current Stimulation (tDCS) Reduces Nociceptive Behavior in an Orofacial Pain Model

Journal of Oral Rehabilitation, Volume 0, Issue ja, -Not available-.


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The efficacy of nasal airway stent (Nastent) on obstructive sleep apnea and prediction of treatment outcomes

Journal of Oral Rehabilitation, Volume 0, Issue ja, -Not available-.


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Time for a Different Approach to Anterior Cruciate Ligament Injuries: Educate and Create Realistic Expectations

Abstract

Following an anterior cruciate ligament (ACL) injury, patients are often reassured that timely surgery followed by intensive physiotherapy will "fix their knee". Not only does this message create a false perception of uncomplicated return to sport (RTS), it also ignores the large body of evidence demonstrating a high RTS re-injury rate following ACL reconstruction. In this article, we propose an individualised approach to the management of ACL injuries that targets a shift away from early surgery and towards conservative management, with surgery 'as needed' and rehabilitation tailored to the patient's RTS goals. Education on the natural history of ACL injuries will ensure patients are not misguided into thinking surgery and intensive rehabilitation guarantees great outcomes. Further, understanding that conservative management is not inferior to surgery—and not more likely to cause knee osteoarthritis—will help the patient make an informed decision. For patients who opt for surgical management, rehabilitation must target strength and functional performance, avoid rapid increases in training load, and be guided by an RTS timeframe that is no shorter than 9 months. The content of rehabilitation should be similar for patients who opt for non-operative management, although the RTS timeframe will likely be shorter. All patients should receive education on the relationship between injury risk and training load, and understand that a home-exercise program is not inferior to intensive physiotherapist-led exercise.

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The role of pre-operative α-blockade in patients with normotensive phaeochromocytoma or paraganglioma: A retrospective cohort study

No abstract available

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