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Heart Rhythm Feb 2024
Topics: Humans; Tachycardia; Heart Atria; Cardiomyopathies; Arrhythmogenic Right Ventricular Dysplasia
PubMed: 38036234
DOI: 10.1016/j.hrthm.2023.11.025 -
Acta Paediatrica (Oslo, Norway : 1992) Oct 2023
Topics: Infant, Newborn; Humans; Bronchopulmonary Dysplasia; Carbon Dioxide; Infant, Premature; Respiration, Artificial
PubMed: 37565373
DOI: 10.1111/apa.16947 -
American Journal of Medical Genetics.... Apr 2024Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals...
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early-onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though COL2A1 has been implicated in other ocular conditions such as type 1 Stickler syndrome. For the first time, we report the ocular findings in four families with Czech dysplasia, including type 1 vitreous anomaly, hypoplastic vitreous, retinal tears, and significant refractive error. These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic feature. Patients with congenital abnormalities of vitreous gel architecture have an increased risk of retinal detachment, and as such, patients may benefit from prophylaxis. Considering that many of the patients did not report any ocular symptoms, vitreous phenotyping is of key importance in identifying the need for counseling with regard to prophylaxis.
Topics: Humans; Connective Tissue Diseases; Osteochondrodysplasias; Hearing Loss, Sensorineural; Retinal Detachment; Arthritis; Toes; Mutation; Collagen Type II; Pedigree
PubMed: 37982325
DOI: 10.1002/ajmg.a.63480 -
The American Journal of Gastroenterology Oct 2023As medical management of inflammatory bowel disease makes great advances, most patients with inflammatory bowel disease will have long life expectancies without need for... (Review)
Review
As medical management of inflammatory bowel disease makes great advances, most patients with inflammatory bowel disease will have long life expectancies without need for total colectomy. With prolonged disease duration, however, there is increased risk of dysplasia leading to colorectal cancer. Multiple consensus and guideline documents have been published over the last decade with recommendations to optimize early detection and management of dysplastic lesions. Endoscopic technology has improved tremendously, even over the past few years. Previously invisible dysplasia has become visible in most cases with advanced imaging technologies that now allow for much clearer and more detailed mucosal inspection. New tools to facilitate endoscopic resection of visible lesions have also enabled patients to avoid colectomy, with resulting need to continue colon surveillance. There are limited or conflicting data leading to inconsistent recommendations regarding the need for random biopsies, the preferred endoscopic imaging technique, and surveillance intervals after resection of dysplasia. Similarly, there remains significant variability in the application of guidelines into daily practice and availability of and training with advanced imaging technologies. Here, we present a narrative review of which patients are at highest risk for dysplasia, the current guidelines on surveillance colonoscopy, factors affecting optimal mucosal visualization, enhanced imaging techniques, standardized reporting terminologies for surveillance colonoscopy, endoscopic management of dysplasia, indications for colectomy, and briefly on future potential technologies to assist in dysplasia detection.
Topics: Humans; Inflammatory Bowel Diseases; Colonoscopy; Colon; Hyperplasia; Biopsy; Colorectal Neoplasms
PubMed: 37543741
DOI: 10.14309/ajg.0000000000002460 -
Clinical Oral Investigations Oct 2023Skeletal dysplasia (SD) comprises more than 450 separate disorders. We hypothesized that their dental features would be distinctive and investigated the tooth...
OBJECTIVE
Skeletal dysplasia (SD) comprises more than 450 separate disorders. We hypothesized that their dental features would be distinctive and investigated the tooth characteristics of four patients with different SDs.
MATERIAL AND METHODS
Four SD patients with molecularly confirmed diagnoses, Pt-1 acromicric dysplasia, Pt-2 hypophosphatasia and hypochondroplasia, Pt-3 cleidocranial dysplasia, and Pt-4 achondroplasia, were recruited. A tooth from each patient was evaluated for mineral density (micro-computerized tomography), surface roughness (surface profilometer), microhardness, mineral contents (energy-dispersive X-ray), and ultrastructure (scanning electron microscopy and histology), and compared with three tooth-type matched controls.
RESULTS
Pt-1 and Pt-3 had several unerupted teeth. Pt-2 had an intact-root-exfoliated tooth at 2 years old. The lingual surfaces of the patients' teeth were significantly smoother, while their buccal surfaces were rougher, than controls, except for Pt-1's buccal surface. The patients' teeth exhibited deep grooves around the enamel prisms and rough intertubular dentin. Pt-3 demonstrated a flat dentinoenamel junction and Pt-2 had an enlarged pulp, barely detectable cementum layer, and ill-defined cemento-dentinal junction. Reduced microhardnesses in enamel, dentin, and both layers were observed in Pt-3, Pt-4, and Pt-1, respectively. Pt-1 showed reduced Ca/P ratio in dentin, while both enamel and dentin of Pt-2 and Pt-3 showed reduced Ca/P ratio.
CONCLUSION
Each SD has distinctive dental characteristics with changes in surface roughness, ultrastructure, and mineral composition of dental hard tissues.
CLINICAL RELEVANCE
In this era of precision dentistry, identifying the specific potential dental problems for each patient with SD would help personalize dental management guidelines.
PubMed: 37548766
DOI: 10.1007/s00784-023-05194-w -
The Veterinary Clinics of North... Sep 2023Orthopedic diseases are complex traits, meaning genetics and environmental factors affect risk, making identification of genetic associations difficult. In the United... (Review)
Review
Orthopedic diseases are complex traits, meaning genetics and environmental factors affect risk, making identification of genetic associations difficult. In the United States, hip and elbow scores, patellar luxation scores, Legg-Calvé-Perthes disease, and shoulder osteochondrosis affectedness are available in the Orthopedic Foundation for Animals registry. Distraction indices and extended, ventrodorsal hip conformation scores are recorded by PennHIP. Application of estimated breeding values for hip and elbow dysplasia in breeder selection reduces the severity and prevalence of these traits. Genomic prediction and whole-genome sequence technologies and methods should improve knowledge of genetics underlying orthopedic diseases, leading to improved canine orthopedic genetic quality.
Topics: Animals; United States; Dogs; Hip Dysplasia, Canine; Joint Diseases; Orthopedics; Elbow Joint; Prevalence; Dog Diseases
PubMed: 37225647
DOI: 10.1016/j.cvsm.2023.04.004 -
Pathology Feb 2024Oral epithelial dysplasia is a histologically diagnosed potentially premalignant disorder of the oral mucosa, which carries a risk of malignant transformation to... (Review)
Review
Oral epithelial dysplasia is a histologically diagnosed potentially premalignant disorder of the oral mucosa, which carries a risk of malignant transformation to squamous cell carcinoma. The diagnosis and grading of oral epithelial dysplasia is challenging, with cases often referred to specialist oral and maxillofacial pathology centres for second opinion. Even still there is poor inter-examiner and intra-examiner agreement in a diagnosis. There are a total of 28 features of oral epithelial dysplasia listed in the 5th edition of World Health Organization classification of tumours of the head and neck. Each of these features is poorly defined and subjective in its interpretation. Moreover, how these features contribute to dysplasia grading and risk stratification is even less well defined. This article discusses each of the features of oral epithelial dysplasia with examples and provides an overview of the common mimics, including the normal histological features of the oral mucosa which may mimic atypia. This article also highlights the paucity of evidence defining these features while offering suggested definitions. Ideally, these definitions will be refined, and the most important features identified to simplify the diagnosis of oral epithelial dysplasia. Digital whole slide images of the figures in this paper can be found at: https://www.pathogenesis.co.uk/r/demystifying-dysplasia-histology-dataset.
Topics: Humans; Mouth Neoplasms; Hyperplasia; Precancerous Conditions; Carcinoma, Squamous Cell; Mouth Mucosa; Cell Transformation, Neoplastic
PubMed: 38030478
DOI: 10.1016/j.pathol.2023.10.002 -
Reviews in Endocrine & Metabolic... Dec 2023Fibrous dysplasia (FD) is a rare skeletal disorder in which normal bone is replaced by a fibro-osseous tissue, resulting in possible deformities and fractures. The aim... (Meta-Analysis)
Meta-Analysis Review
Fibrous dysplasia (FD) is a rare skeletal disorder in which normal bone is replaced by a fibro-osseous tissue, resulting in possible deformities and fractures. The aim of this systematic review and meta-analysis was to synthesize the available evidence on the use of antiresorptive drugs in FD in terms of changes in bone turnover markers (BTMs), bone mineral density (BMD), and reducing pain. Three databases were searched in October 2022, with an update in July 2023. Of the 1037 studies identified, 21 were retained after eligibility assessment. A random-effects model was used to calculate global effect size and the corresponding standard error. Pamidronate and Denosumab were the most reported drugs in a total of 374 patients assessed. The initiation of treatments was accompanied by an average reduction of 40.5% [CI -51.6, -29.3] in the bone resorption parameters, and 22.0% [CI -31.9, -12.1] in the parameters of bone formation after 6-12 months. BMD was increased in both FD lesions and in the unaffected skeleton. Pain was reduced by 32.7% [CI -52.7, -12.6] after 6-12 months of treatment, and by 44.5% [CI -65.3, -23.6] after a mean 41.2 months of follow-up. The variation in pain was highly correlated to variation in bone resorption (R = 0.08, p < 0.0001) and formation parameters (R = 0.17, p < 0.0001). This study supports the overall efficacy of antiresorptive therapies in terms of reducing bone remodeling, improving bone density, and pain in FD.
Topics: Humans; Bone Density Conservation Agents; Fibrous Dysplasia, Polyostotic; Diphosphonates; Fibrous Dysplasia of Bone; Bone Resorption; Pain
PubMed: 37632645
DOI: 10.1007/s11154-023-09832-2 -
Cancers Dec 2023Barrett's esophagus (BE) was initially defined in the 1950s as the visualization of gastric-like mucosa in the esophagus. Over time, the definition has evolved to... (Review)
Review
Barrett's esophagus (BE) was initially defined in the 1950s as the visualization of gastric-like mucosa in the esophagus. Over time, the definition has evolved to include the identification of goblet cells, which confirm the presence of intestinal metaplasia within the esophagus. Chronic gastro-esophageal reflux disease (GERD) is a significant risk factor for adenocarcinoma of the esophagus, as intestinal metaplasia can develop due to GERD. The development of adenocarcinomas related to BE progresses in sequence from inflammation to metaplasia, dysplasia, and ultimately carcinoma. In the presence of GERD, the squamous epithelium changes to columnar epithelium, which initially lacks goblet cells, but later develops goblet cell metaplasia and eventually dysplasia. The accumulation of multiple genetic and epigenetic alterations leads to the development and progression of dysplasia. The diagnosis of BE requires the identification of intestinal metaplasia on histologic examination, which has thus become an essential tool both in the diagnosis and in the assessment of dysplasia's presence and degree. The histologic diagnosis of BE dysplasia can be challenging due to sampling error, pathologists' experience, interobserver variation, and difficulty in histologic interpretation: all these problems complicate patient management. The development and progression of Barrett's esophagus (BE) depend on various molecular events that involve changes in cell-cycle regulatory genes, apoptosis, cell signaling, and adhesion pathways. In advanced stages, there are widespread genomic abnormalities with losses and gains in chromosome function, and DNA instability. This review aims to provide an updated and comprehensible diagnostic approach to BE based on the most recent guidelines available in the literature, and an overview of the pathogenetic and molecular mechanisms of its development.
PubMed: 38136271
DOI: 10.3390/cancers15245725 -
NeoReviews Nov 2023See Bonus NeoBriefs videos and downloadable teaching slides Infants born preterm who are diagnosed with bronchopulmonary dysplasia (BPD) demonstrate a wide spectrum of... (Review)
Review
See Bonus NeoBriefs videos and downloadable teaching slides Infants born preterm who are diagnosed with bronchopulmonary dysplasia (BPD) demonstrate a wide spectrum of illness severity. For infants with the most severe forms of BPD, safe discharge from the hospital may only be possible by providing long-term ventilation via a surgically placed tracheostomy. Though tracheostomy placement in infants with BPD is infrequent, recent reports suggest that rates of tracheostomy placement are increasing in this population. Even though there are known respiratory and neurodevelopmental risks associated with tracheostomy placement, no evidence-based criteria or consensus clinical practice guidelines exist to inform tracheostomy placement in this growing and vulnerable population. An incomplete knowledge of long-term post-tracheostomy outcomes in infants with BPD may unduly bias medical decision-making and family counseling regarding tracheostomy placement. This review aims to summarize our current knowledge of the epidemiology and long-term outcomes of tracheostomy placement in infants with BPD to provide a family-centered framework for tracheostomy counseling.
Topics: Infant, Newborn; Infant; Humans; Bronchopulmonary Dysplasia; Infant, Premature; Tracheostomy; Lung
PubMed: 37907398
DOI: 10.1542/neo.24-11-e704