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1.
BMJ Case Rep ; 17(2)2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355206

RESUMO

Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.


Assuntos
Hipoplasia Dérmica Focal , Anormalidades Dentárias , Dente Supranumerário , Criança , Feminino , Humanos , Aciltransferases/genética , Hipoplasia Dérmica Focal/complicações , Hipoplasia Dérmica Focal/genética , Proteínas de Membrana/genética , Mutação , Pele , Anormalidades Dentárias/complicações , Dente Supranumerário/complicações
2.
Dent Traumatol ; 40(1): 91-110, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37638637

RESUMO

BACKGROUND/AIM: Individuals with special healthcare needs (SHCN) are more likely to sustain traumatic dental injuries (TDIs) due to distinct risk factors. The aim of this review was to assess various risk factors associated with TDIs in individuals with SHCN. MATERIALS AND METHODS: The protocol was designed according to the recommendations of the Cochrane-handbook, Joanna Briggs Institute, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and registered in PROSPERO (CRD42022357422). A comprehensive search was performed in PubMed, LILACS, Web of Science, EMBASE and Scopus using a pre-defined strategy without any limitation of language and year of publication. It was last updated on 25 April 2023. Studies addressing the TDIs in individuals with SHCN were included. Data extraction and analyses were performed, risk of bias (ROB) assessment was done using the Joanna Briggs Institute's critical appraisal tool, and a meta-analysis was performed using random-effects model. RESULTS: A total of 21 studies were included in the review. They were categorized according to the target disease/condition: cerebral palsy (n = 5), ADHD and autism spectrum disorders (n = 5), visually impaired (n = 4), and multiple disorders (n = 7). The studies showed variability in the design and methods; however, 17 out of 21 studies showed moderate to low ROB. Increased overjet and lip incompetence were the main risk factors reported in the studies. The commonest injuries were observed to be enamel and enamel and dentine fractures. CONCLUSION: The overall pooled prevalence of TDI in individuals with special healthcare needs was 23.16% with 20.98% in males and 27.06% in females. Overjet >3 mm and inadequate lip coverage were found to be associated with a higher risk of TDI in all the categories of individuals with special healthcare needs except ADHD and ASD. Falls at home in cerebral palsy, falls while walking and self-harm in ADHD and ASD, falls at home and collision in visual impairment, and unspecified falls in multiple disorders could be identified as the most common cause of TDI.


Assuntos
Traumatismos Dentários , Feminino , Humanos , Masculino , Paralisia Cerebral/complicações , Atenção à Saúde , Sobremordida , Fatores de Risco , Traumatismos Dentários/complicações , Traumatismos Dentários/epidemiologia , Transtornos do Neurodesenvolvimento/complicações , Transtornos da Visão/complicações
3.
Spec Care Dentist ; 44(2): 428-433, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37227705

RESUMO

Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.


Assuntos
Síndrome de Hajdu-Cheney , Osteoporose , Criança , Feminino , Humanos , Síndrome de Hajdu-Cheney/complicações , Síndrome de Hajdu-Cheney/diagnóstico , Síndrome de Hajdu-Cheney/genética , Osteoporose/etiologia , Face
4.
Lancet Reg Health Southeast Asia ; 3: 100023, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35769163

RESUMO

Background: Surge of SARS CoV-2 infections ascribed to omicron variant began in December 2021 in New Delhi. We determined the infection and reinfection density in a cohort of health care workers (HCWs) along with vaccine effectiveness (VE) against symptomatic infection within omicron transmission period (considered from December 01, 2021 to February 25, 2022. Methods: This is an observational study from the All India Institute of Medical Sciences, New Delhi. Data were collected telephonically. Person-time at risk was counted from November 30, 2021 till date of infection/ reinfection, or date of interview. Comparison of clinical features and severity was done with previous pandemic periods. VE was estimated using test-negative case-control design [matched pairs (for age and sex)]. Vaccination status was compared and adjusted odds ratios (OR) were computed by conditional logistic regression. VE was estimated as (1-adjusted OR)X100-. Findings: 11474 HCWs participated in this study. The mean age was 36⋅2 (±10⋅7) years. Complete vaccination with two doses were reported by 9522 (83%) HCWs [8394 (88%) Covaxin and 1072 Covishield (11%)]. The incidence density of all infections and reinfection during the omicron transmission period was 34⋅8 [95% Confidence Interval (CI): 33⋅5-36⋅2] and 45⋅6 [95% CI: 42⋅9-48⋅5] per 10000 person days respectively. The infection was milder as compared to previous periods. VE was 52⋅5% (95% CI: 3⋅9-76⋅5, p = 0⋅036) for those who were tested within 14-60 days of receiving second dose and beyond this period (61-180 days), modest effect was observed. Interpretation: Almost one-fifth of HCWs were infected with SARS CoV-2 during omicron transmission period, with predominant mild spectrum of COVID-19 disease. Waning effects of vaccine protection were noted with increase in time intervals since vaccination. Funding: None.

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