scholarly journals Molecular Basis of Human Enamel Defects

2014 ◽  
Vol 18 (1) ◽  
pp. 5-16
Author(s):  
Georgios Chatzopoulos ◽  
Dimitrios Tziafas

Abstract During eruption of teeth in the oral cavity, the effect of gene variations and environmental factors can result in morphological and structural changes in teeth. Amelogenesis imperfecta is a failure which is detected on the enamel of the teeth and clinical picture varies by the severity and type of the disease. Classification of the types of amelogenesis imperfecta is determined by histological, genetic, clinical and radiographic criteria. Specifically, there are 4 types of amelogenesis imperfecta (according to Witkop): hypoplastic form, hypo-maturation form, hypo-calcified form, and hypo-maturation/hypoplasia form with taurodontism and 14 subcategories. The diagnosis and classification of amelogenesis imperfecta has traditionally been based on clinical presentation or phenotype and the inheritance pattern. Several genes can be mutated and cause the disease. Millions of genes, possibly more than 10,000 genes produce proteins that regulate synthesis of enamel. Some of the genes and gene products that are likely associated with amelogenesis imperfecta are: amelogenin (AMELX, AMELY genes), ameloblastin (AMBN gene), enamelin (ENAM gene), enamelysin (MMP20 gene), kalikryn 4 (KLK 4 gene), tuftelins (Tuftelin gene), FAM83H (FAM83H gene) and WDR72 (WDR72 gene). Particular attention should be given by the dentist in recognition and correlation of phenotypes with genotypes, in order to diagnose quickly and accurately such a possible disease and to prevent or treat it easily and quickly. Modern dentistry should restore these lesions in order to guarantee aesthetics and functionality, usually in collaboration with a group of dentists.

2021 ◽  
Vol 8 (3) ◽  
pp. 315-336
Author(s):  
Isabelle Moulonguet ◽  
Sylvie Fraitag

Panniculitides form a heterogenous group of inflammatory diseases that involve the subcutaneous adipose tissue. These disorders are rare in children and have many aetiologies. As in adults, the panniculitis can be the primary process in a systemic disorder or a secondary process that results from infection, trauma or exposure to medication. Some types of panniculitis are seen more commonly or exclusively in children, and several new entities have been described in recent years. Most types of panniculitis have the same clinical presentation (regardless of the aetiology), with tender, erythematous subcutaneous nodules. Although the patient’s age and the lesion site provide information, a histopathological assessment is sometimes required for a definitive diagnosis and classification of the disorder. In children, most panniculitides are lobular. At present, autoimmune inflammatory diseases and primary immunodeficiencies have been better characterised; panniculitis can be the presenting symptom in some of these settings. Unexplained panniculitis in a young child should prompt a detailed screen for monogenic immune disorders because the latter usually manifest themselves early in life. Here, we review forms of panniculitis that occur primarily in children, with a focus on newly described entities.


Author(s):  
Floris van Gaalen ◽  
Désirée van der Heijde ◽  
Maxime Dougados

Axial spondyloarthritis (axSpA) is a potentially disabling chronic inflammatory disease affecting the spine and sacroiliac (SI) joints. Lead symptoms are chronic back pain and stiffness. The disease is called radiographic axSpA or ankylosing spondylitis (AS) when, on plain radiographs, bone changes consistent with sacroiliitis are present. When no evidence of sacroiliitis is seen on radiographs, it is called non-radiographic axSpA. In such cases, diagnosis is made based on evidence of active inflammation of SI joints on magnetic resonance imaging (MRI) and clinical and laboratory features, or a combination of clinical and laboratory features only. Apart from affecting the spine and SI joints, axSpA may involve peripheral joints (e.g. knee, ankle) and manifest in extra-articular manifestations, for example uveitis, psoriasis, and inflammatory bowel disease. In this chapter, diagnosis and classification of axSpA is discussed, including use of MRI in detecting sacroiliitis and the difference between clinical diagnosis and disease classification.


Dental Update ◽  
2021 ◽  
Vol 48 (5) ◽  
pp. 409-416
Author(s):  
Hesham Ali ◽  
Awais Ali ◽  
Ovais Malik

Fibrous dysplasia is a benign condition characterized by replacement of bone by a fibro-osseous tissue. This article describes the aetiology, diagnosis and classification of the condition. We discuss the clinical presentation of fibrous dysplasia along with its craniofacial effects. The presentation of fibrous dysplasia in the dental setting is described, along with specific implications for dental and orthodontic management of these patients. CPD/Clinical Relevance: Given the wide array of conditions that can present to GDPs, it is important to be aware of fibrous dysplasia as a possible cause of some signs and symptoms. The presentation, diagnosis and dental management of this group of patients is presented from a clinical perspective.


2016 ◽  
Vol 141 (5) ◽  
pp. 696-703 ◽  
Author(s):  
Michelle Foshat ◽  
Nahal Boroumand

Context.— An explosion of information on pulmonary hypertension has occurred during the past few decades. The perception of this disease has shifted from purely clinical to incorporate new knowledge of the underlying pathology. This transfer has occurred in light of advancements in pathophysiology, histology, and molecular medical diagnostics. Objectives.— To update readers about the evolving understanding of the etiology and pathogenesis of pulmonary hypertension and to demonstrate how pathology has shaped the current classification. Data Sources.— Information presented at the 5 World Symposia on pulmonary hypertension held since 1973, with the last meeting occurring in 2013, was used in this review. Conclusions.— Pulmonary hypertension represents a heterogeneous group of disorders that are differentiated based on differences in clinical, hemodynamic, and histopathologic features. Early concepts of pulmonary hypertension were largely influenced by pharmacotherapy, hemodynamic function, and clinical presentation of the disease. The initial nomenclature for pulmonary hypertension segregated the clinical classifications from pathologic subtypes. Major restructuring of this disease classification occurred between the first and second symposia, which was the first to unite clinical and pathologic information in the categorization scheme. Additional changes were introduced in subsequent meetings, particularly between the third and fourth World Symposia meetings, when additional pathophysiologic information was gained. Discoveries in molecular diagnostics significantly progressed the understanding of idiopathic pulmonary arterial hypertension. Continued advancements in imaging modalities, mechanistic pathogenicity, and molecular biomarkers will enable physicians to define pulmonary hypertension phenotypes based on the pathobiology and allow for treatment customization.


2017 ◽  
Vol 25 (1) ◽  
pp. 230949901769271 ◽  
Author(s):  
Christian Fang ◽  
Tak-Man Wong ◽  
Kelvin KW To ◽  
Samson SY Wong ◽  
Tak-Wing Lau ◽  
...  

In the first part of this article, we have discussed the pathogenesis, clinical presentation, diagnosis and classification of infection after fracture osteosynthesis with implants, termed here as osteosynthesis-associated infection (OAI). Prolonged antibiotic treatment is usually necessary. Implant retention and maintenance of fracture stability to allow for fracture healing in spite of infection are allowed for OAI. Depending on the severity of infection, status of fracture healing and host status, the treatment follows five common pathways. These are non-operative treatment, debridement with implant retention, conversion of fixation, implant removal and suppression therapy. The decision-making process leading to each treatment pathway and challenging scenarios is discussed in detail.


Author(s):  
Michelle J Lespasio ◽  
Michelle J Lespasio

The purpose of this article is to provide a synopsis of the current medical understanding of hip pain highlighting its relation to anatomical location and underlying pathology. We describe the i) mechanism of the hip joint, ii) classification of hip pain, iii) prevalence of hip pain, iv) purported causes, v) associated risk factors, vi) clinical presentation, vii) diagnosis and classification, and viii) treatment options. A quiz serves to assist readers in their understanding of the presented material.


Author(s):  
Fengyu Zhang ◽  
Claude Hughes

Coronavirus disease 2019 (COVID-19) is a new infectious respiratory disease that has caused the ongoing global pandemic. The primary purpose of this article is to describe evolving clinical epidemiology of COVID-19, including 1) infection and testing, 2) clinical spectrum including classification of clinical type, asymptomatic cases, severe cases and comorbidity, and clinical and immunological response, 3) regional variation in clinical presentation, 4) population distribution by age, sex, and occupation, and finally, 5) case-fatality. This content may provide important information on detailed clinical type and presentation of the disease, in which appropriate clinical outcomes can be derived for developing prevention strategies and clinical studies or trials that aim to test potential therapeutics or products for different patient populations.


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