RESUMEN
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare, severe, autosomal recessive disorder that results in spondyloepiphyseal dysplasia, renal dysfunction, immunodeficiency, facial dysmorphism and growth failure. Little is known about oral features associated with SIOD. Some of the dental anomalies encountered are specific to SIOD and have only been reported in individuals with SIOD. CASE REPORT: This paper describes the clinical and radiographic dental manifestations of SIOD in two Caucasian brothers. Both lived to be about 10 years old. After a variety of symptoms were reported, a diagnosis of SIOD was finally made when the brothers were, respectively, 5 and 8 years old. At that time, dental anomalies, such as dyschromia, bulbous crowns, short and thin roots, had not been taken into account to establish the diagnosis. However, knowledge of the dental features characteristic of this disease could have helped make the diagnosis. Although both were caries- and periodontal disease-free, special attention was focused on prevention, including dietary counselling, plaque control, oral hygiene instructions and the use of fluoridated toothpaste. FOLLOW-UP: The two patients were followed every 6 months, for over 2 years (until their death), by both a private dentist and a university hospital dentist, which helped them maintain good oral health. Oral hygiene was assessed at each appointment and fissure sealants were placed by the private practitioner on their first permanent molars. CONCLUSION: This report describes dental anomalies specific to SIOD that could facilitate diagnosis. Clinicians and dentists should work in collaboration to diagnose and treat children with SIOD. These patients require regular and specific dental management because of their fragile health and their characteristic dental anomalies. Ideally, preventive visits should be scheduled every 6 months in addition to curative visits as needed.
Asunto(s)
Arteriosclerosis/genética , Síndromes de Inmunodeficiencia/genética , Síndrome Nefrótico/genética , Osteocondrodisplasias/genética , Embolia Pulmonar/genética , Anomalías Dentarias/genética , Enfermedades Dentales/prevención & control , Anodoncia/genética , Cariostáticos/uso terapéutico , Niño , Preescolar , Pulpa Dental/anomalías , Resultado Fatal , Fluoruros/uso terapéutico , Estudios de Seguimiento , Humanos , Masculino , Salud Bucal , Selladores de Fosas y Fisuras/uso terapéutico , Enfermedades de Inmunodeficiencia Primaria , Corona del Diente/anomalías , Decoloración de Dientes/genética , Raíz del Diente/anomalías , Cepillado Dental/métodosRESUMEN
Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGFß1 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD.
Asunto(s)
Arteriosclerosis/complicaciones , Síndromes de Inmunodeficiencia/complicaciones , Síndrome Nefrótico/complicaciones , Osteocondrodisplasias/complicaciones , Embolia Pulmonar/complicaciones , Anomalías Dentarias/etiología , Alelos , Anodoncia/etiología , Arteriosclerosis/genética , Diente Premolar/anomalías , Proteína Morfogenética Ósea 4/análisis , Técnicas de Cultivo de Célula , Proliferación Celular , Supervivencia Celular , Células Cultivadas , ADN Helicasas/análisis , ADN Helicasas/genética , Fibroblastos/patología , Humanos , Síndromes de Inmunodeficiencia/genética , Diente Molar/anomalías , Mutación/genética , Síndrome Nefrótico/genética , Odontogénesis/genética , Osteocondrodisplasias/genética , Enfermedades de Inmunodeficiencia Primaria , Embolia Pulmonar/genética , Piel/citología , Germen Dentario/patología , Raíz del Diente/anomalías , Diente Primario/anomalías , Transcripción Genética/genética , Factor de Crecimiento Transformador beta1/análisis , Proteína Wnt3A/análisisRESUMEN
Faecal contamination sources were identified in coastal areas around the Guerande-Atlantique peninsula using two microbial source tracking (MST) methods: (i) Bacteroidales host-specific 16S rRNA gene markers measured by real-time PCR and (ii) F-specific bacteriophage (FRNAPH) genotyping. Both methods were used on 63 water samples from 7 water courses. HF183 marker and bacteriophage genogroup II (FRNAPH II) were detected in all water samples and in the majority of water samples, respectively, from La Torre stream (W5), Piriac (W2), R2000 (W3) and Mazy (W7) rain water drains, and also detected, less frequently, in Le Nau drain (W4), suggesting contamination by human faecal sources at these sites. These human markers were weakly detected in Pouliguen channel (W6). Furthermore, BacR and bacteriophage genogroup I (FRNAPH I) were also detected, but at lower concentration and frequency. So, site W6 seems to be contaminated by multiple sources, though mainly human. Finally, BacR was detected twice in Pont d'Armes channel (W1), whereas HF183 was not detected. FRNAPH I and II were detected in only 3 out of 12 water samples. Site W1 seems mainly contaminated by animal sources. As a result of our findings, actions were taken to remediate water and shellfish quality.
