Child physical abuse: changes over ten years in the perceptions of Finnish dental professionals.

OBJECTIVE: This study aimed to assess perceptions and actions taken by Finnish dental professionals in suspected cases of child physical abuse (CPA) and to describe changes over 10 years. MATERIAL AND METHODS: Data collected from two child abuse and neglect (CAN) surveys among Finnish dental professionals, working in public health care, covering suspicions of CPA and actions taken as well as training on CPA issues, were compared. The chi-squared (χ2) test was used to analyze associations. RESULTS: In total, 625 (2008) and 1,025 (2019) questionnaires were completed. Respondents reported that they suspected CPA more frequently in 2008 than in 2019 (21.0% vs. 8.7%, p < 0.001). Out of all respondents, 1.1% had reported their concern to the police in 2019. Worries about the report's negative consequences to the child at home (44.5% vs. 56.4%, p < 0.001) and to the informer (30.2% vs. 36.3%, p = 0.016) increased between the surveys. The proportion of respondents with previous training on CPA issues increased between the surveys (5.9% vs. 36.4%, p < 0.001). CONCLUSIONS: Recognition of CPA was low and decreased over the years. Furthermore, mandatory reporting to the police was low. Additional education on issues related to CPA is needed.

Pathogenic REST variant causing Jones syndrome and a review of the literature.

Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters presenting with a typical Jones syndrome (OMIM %135550) phenotype. Exome sequencing identified a repressor element 1-silencing transcription factor (REST, OMIM *600571) (NM_005612.5) c.2670_2673del p.(Glu891Profs*6) heterozygous variant segregating with Jones syndrome in the family. We review the clinical data from all previously published patients with Jones syndrome and previously published patients with pathogenic REST variants associated with gingival fibromatosis or sensorineural hearing loss. This study suggests that pathogenic REST variants cause Jones syndrome.

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

OBJECTIVE: Tooth agenesis is one of the most common craniofacial developmental anomalies. In hypodontia, one to five teeth are missing, whereas oligodontia refers to the absence of at least six teeth, excluding the third molars. Mutations in several genes including MSX1, PAX9, AXIN2, and WNT10A have been shown to cause non-syndromic tooth agenesis. Regional odontodysplasia (RO), also known as "ghost teeth," is a rare developmental anomaly of tooth formation affecting both dentitions. Some possible causes of RO have been suggested, yet the etiology remains unknown. Because the phenotypes of both oligodontia and RO co-occur in one Finnish family, the aim here was to investigate the genetic etiology of the two conditions. MATERIALS AND METHODS: A mutation screening of the genes MSX1, PAX9, AXIN2, and WNT10A was performed for the family members of a RO patient and family history of oligodontia. RESULTS: An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family. CONCLUSIONS: The etiology of regional odontodysplasia (RO) may be genetic and the same genes can be involved both in RO and tooth agenesis. CLINICAL RELEVANCE: Our results give new insights into the etiology of regional odontodysplasia, yet further results are needed.

Bidirectional approaches for optogenetic regulation of gene expression in mammalian cells using Arabidopsis cryptochrome 2.

Optogenetic tools allow regulation of cellular processes with light, which can be delivered with spatiotemporal resolution. In previous work, we used cryptochrome 2 (CRY2) and CIB1, Arabidopsis proteins that interact upon light illumination, to regulate transcription with light in yeast. While adopting this approach to regulate transcription in mammalian cells, we observed light-dependent redistribution and clearing of CRY2-tethered proteins within the nucleus. The nuclear clearing phenotype was dependent on the presence of a dimerization domain contained within the CRY2-fused transcriptional activators. We used this knowledge to develop two different approaches to regulate cellular protein levels with light: a system using CRY2 and CIB1 to induce protein expression with light through stimulation of transcription, and a system using CRY2 and a LOV-fused degron to simultaneously block transcription and deplete protein levels with light. These tools will allow precise, bi-directional control of gene expression in a variety of cells and model systems.

Middle ear findings and need for ventilation tubes among pediatric cleft lip and palate patients in northern Finland.

PURPOSE: Middle ear problems are common in cleft patients. This study aimed to determine the need for ventilation tubes (VTs) and complications such as tympanic perforation and cholesteatoma. MATERIAL AND METHODS: Data of 156 children with clefts managed in northern Finland spanning 15 years from 1997 to 2011 were collected from 6 hospitals. The following were recorded: birth date, gender, cleft type, surgery timing, surgery type, number of tube insertions, tube material, middle ear findings, and tube placement timing. Clefts were divided into 4 groups: cleft palate (CP), cleft lip and palate (CLP), cleft lip (CL), and submucous cleft palate. The prevalence of middle ear findings was reported. RESULTS: Mucous secretion was noted in 96.8% of CLP patients, 69.2% of CP patients, and 13.0% of CL patients. In all, 82.7% of study group had 1 or more VTs placed during follow-up. All CLP patients required more than 1 VT placement. A total of 94.5% of CP patients required VTs compared to 13.0% of CL patients. In the presence of residual oral nasal fistula, the mean number of tube insertions was 5.3. The prevalence of tympanic perforations in clefts was 35.9% and cholesteatoma in 2.6% of patients. CONCLUSIONS: CLP and isolated CP patients have frequent middle ear infections requiring multiple VT placements.

[Suspected physical child abuse--recognition and actions in health care]. / Epäily lapsen fyysisestä pahoinpitelystä--tunnistaminen ja toimenpiteet terveydenhuollossa.

Every physician meeting with children should be aware of the most common types of injury and situations causing concern associated with child abuse. When encountering a child who has been or suspected to have been abused, even the physician may get anxious and uncertain about what he/she should be able to do. It is worth remembering that at the beginning the best way a doctor can help the child is to take care of the basic aspects of her/his work: careful clinical examination, appropriate medical record entries and prompt reports to the authorities.

Dental treatment need and dental general anesthetics among preschool-age children with cleft lip and palate in northern Finland.

Cleft lip and palate incidence is high in northern Finland. This study aimed to investigate the proportion of children in need of restorative dental treatment among cleft lip and palate patients in northern Finland, as well as their need for dental treatment under general anesthesia. The records of 183 cleft lip and palate patients, treated in Oulu University Hospital from 1997 to 2013, were reviewed. Data on dental caries were analyzed in association with cleft type, considering also the presence of syndromes. The frequency of dental general anesthetic (DGA) use, and of treatments, were also analyzed. Dental treatment need was most frequently observed, in this rather limited study population, in patients with the most severe deformities, namely bilateral cleft lip and palate, of whom 60% had caries. Among the study population, 11.5% (n = 21) had a syndrome. Of those, 57.1% had dental caries at the age of 3 or 6 yr, and only four could be treated without a DGA. Dental treatment under general anesthesia was performed in 14.8% of cleft patients without a syndrome, but in 38.1% of those with a syndrome. General anaesthesia is required for the provision of dental care more often in cleft (17.5%) than in non-cleft (0.2%) patients, and especially for those with a syndrome.

Intakes of cold cuts in the elderly are predicted by olfaction and mood, but not by flavor type or intensity of the products.

Means to boost food intake of the elderly (n = 60, age range 61-86 years) varying in olfactory and mood status were studied during home-use of cold cuts. Enhancement group (n = 28) received regular smoked ham and smoked ham flavored with extra strong smoke aroma or with pepper mix, and Variety group (n = 32) received four different cold cuts: smoked ham, cooked ham, pepper ham and bologna. Both groups participated in two successive home-use periods, each over 6 days. Before and after home-use, the cold cuts were rated for odor and flavor intensity and liking, and in home-use only for liking. Cold cuts, 600 g per period, were to be consumed ad libitum, and the returned left-overs were weighed. Scandinavian Odor Identification Test and Profile of Mood States (bi-polar) were used in dividing subjects into normosmics and hyposmics (SOIT, cut-off score: 11) and into mood groups (POMS, depressed-elated, cut-off score: median). Enhancement group liked both the regular and the ham enhanced with pepper mix similarly, while added smoke aroma decreased liking. Regardless of the olfactory capabilities, the subjects >74 years of age were less responsive to the flavor changes in their ratings than those aged 61-74 years. Poor olfactory status increased the intakes regardless of the flavor level or type of cold cuts. Path analysis suggested that in the Enhancement group, poor health, depressed mood and high age predicted a poor olfactory performance which, along with ratings of liking, increased the consumed amounts of cold cuts.

Correspondence between three olfactory tests and suprathreshold odor intensity ratings.

OBJECTIVES: The capability of three olfactory tests (European Test of Olfactory Capabilities, Sniffin' Sticks and Cross-Cultural Smell Identification Test) to similarly classify subjects as normosmics, hyposmics and anosmics as well as the relation between test performance and suprathreshold ortho- and retronasal odor intensity ratings were examined. MATERIAL AND METHODS: A total of 48 subjects (age range 15-84 years; mean age 49.5 years) completed the 3 olfactory tests, rated aqueous solutions of vanilla (0-0.31%) and lemon aroma (0-0.17%) for odor and flavor intensity and filled in a background questionnaire. Ten subjects had case histories indicating anosmia, with the remainder having subjectively normal olfaction. RESULTS: The test results were highly correlated and differentiated anosmic, hyposmic and normosmic subjects. At an individual level, some discrepancy was seen in the olfactory diagnoses given by the three tests. In principal component analysis, olfactory measurements were loaded on three components: (i) odor detection, discrimination and identification; (ii) suprathreshold intensity ratings; and (iii) threshold for n-butanol. Advanced age was related to impaired olfactory performance. CONCLUSIONS: Although the three olfactory tests diagnosed the individuals slightly differently, all were considered to be valid for clinical evaluation of olfactory capabilities. The tests separated anosmics and normosmics highly significantly, and permitted an assessment of hyposmia. The suprathreshold odor intensity ratings reflected a different dimension of olfaction than the three olfactory tests.