Challenges in Communicating a Genetic Diagnosis

Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, and sometimes in an inappropriate environment or under time constraints [...]

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases

Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study. Conclusions: Ectodermal dysplasia cases have a particular place in dentistry and require a professional, multi- disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia

The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications

The evaluation of root fracture with cone beam computed tomography (CBCT) : an epidemiological study

The aim of this study was evaluation of the cone-beam computed tomography (CBCT) image of 50 patients at the ages of 8-15 suspecting root fracture and root fracture occurred, exposed to dental traumatic. In additionally, this study was showed effect of crown fracture on root fracture healing. All of the individuals included in the study were obtained images with the cone-beam computed tomography range of 0,3 voxel and 8.9 seconds.(i-CAT®, Model 17-19, Imaging SciencesInternational, Hatfield, Pa USA).The information obtained from the history and CBCT images of patients were evaluated using chi-square test statistical method the mean and the distribution of the independent variables. 50 children, have been exposed to trauma, was detected root fracture injury in 97 teeth. Horizontal root fracture 63.9% of the 97 tooth, the oblique in 31.9%, both the horizontal and oblique in 1.03%, partial fracture in 2.06% ,and both horizontally and vertical in 1.03% was observed.The most affected teeth, respectively of, are the maxillary central incisor (41.23% left, right, 37.11%), maxillary left lateral incisor (9.27%), maxillary right lateral incisor (11.34%), and mandibular central incisor (1.03%). Crown fractures have negative effects on spontaneous healing of root fractures. CBCT are used selected as an alternative to with conventional radiography for diagnosis of root fractures. In particular, ?t?s cross-sectional image is quite useful and has been provided more conveniences seeing the results of diagnosis and treatment for clinician

COVID-19 y fibrosis quística. Antecedentes y recomendaciones

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