Michael Dray
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View article: The impact of bronchoalveolar lavage on the diagnosis of undifferentiated interstitial lung disease alongside a multidisciplinary discussion
The impact of bronchoalveolar lavage on the diagnosis of undifferentiated interstitial lung disease alongside a multidisciplinary discussion Open
Background and objective Cellular analysis of bronchoalveolar lavage (BAL) fluid may aid diagnosis in patients with undifferentiated interstitial lung disease (ILD). The utility of this test in the diagnostic process in conjunction with a …
View article: Education in Pathology
Education in Pathology Open
Background: To avoid patient harm, laboratories require protocols to resolve identification and specimen handling errors.This case describes how correct diagnoses were conveyed to two patients after their
View article: Histological and radiographic evaluation of three common tendon transfer techniques in an un-ossified bone porcine model: Implications for early anterior tibialis tendon transfers in children with clubfeet
Histological and radiographic evaluation of three common tendon transfer techniques in an un-ossified bone porcine model: Implications for early anterior tibialis tendon transfers in children with clubfeet Open
Purpose To compare the histological healing and radiographic effects of tendons transferred to ossified or unossified bone using different tendon fixation techniques Methods Nine new-born piglets underwent bilateral tendon transfers to eit…
View article: Bisphosphonate Use and Fractures in Adults with Hypophosphatasia
Bisphosphonate Use and Fractures in Adults with Hypophosphatasia Open
Adults with hypophosphatasia (HPP) may suffer femoral fractures resembling the atypical femoral fractures that can occur with long‐term bisphosphonate treatment, and there is an emerging consensus that bisphosphonates should not be used in…
View article: Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype Open
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of…
View article: Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature
Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature Open
Cushing’s syndrome (CS) due to ectopic adrenocorticotrophic hormone (ACTH) is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To…
View article: A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation
A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation Open
Context: Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH)–deficient GISTs are a unique class of GIST defined by loss of…
View article: Local application of lactoferrin promotes bone regeneration in a rat critical-sized calvarial defect model as demonstrated by micro-CT and histological analysis
Local application of lactoferrin promotes bone regeneration in a rat critical-sized calvarial defect model as demonstrated by micro-CT and histological analysis Open
Lactoferrin is a multifunctional glycoprotein with therapeutic potential for bone tissue engineering. The aim of this study was to assess the efficacy of local application of lactoferrin on bone regeneration. Five-millimetre critical-sized…
View article: Recurrent Merkel cell carcinoma of the testis with unknown primary site: a case report
Recurrent Merkel cell carcinoma of the testis with unknown primary site: a case report Open
View article: Additional file 1: Table S1. of Recurrent Merkel cell carcinoma of the testis with unknown primary site: a case report
Additional file 1: Table S1. of Recurrent Merkel cell carcinoma of the testis with unknown primary site: a case report Open
Clinical details of all known cases of testicular Merkel cell carcinoma. (XLSX 11 kb)
View article: Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia Open
View article: Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment Open
Hypophosphatasia is an inborn error of metabolism caused by mutations in the ALPL gene. It is characterized by low serum alkaline phosphatase (ALP) activity and defective mineralization of bone, but the phenotype varies greatly in severity…
View article: Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in<i>CDKN1B</i>
Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in<i>CDKN1B</i> Open
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR , or CDC73 . A small number of families with primary hyperparathyroi…