Biomedical subjects

Jyri Hukki

Publications and source records attributed to Jyri Hukki.

11 recordsLinked to original sources

PubMed2006

Craniofacial structures and dental development in three patients with Nager syndrome.

In Finland, 3 patients have been diagnosed with Nager syndrome (NS) during the last 17 years. Thus the incidence for NS in Finland is 3:1,000,000. The craniofacial structures and dental development of these patients were studied clinically and radiographically at the age of 3-4 years, and compared to age-matched controls and to the norms of the Finnish population. The striking structural finding was a severely short, retrognathic and posteriorly rotated mandible. Especially the ramus was deficient; its height was, on average, less than one-third of that of the control group. All children were tracheostomized neonatally. At the age of 3-4, the lower pharyngeal airway was still severely obstructed or completely closed. Nasopharyngeal airway was wide and the soft palate was missing in all patients. All patients had a complete deciduous dentition, but agenesis of permanent teeth (ranging from 2-10 missing teeth) was observed in each patient. Accelerated dental development was found in two subjects. Condylar ankylosis or severely limited mouth opening were observed. The present findings give new information and quantify earlier observations of craniofacial structures and dental development in NS. Analysis of facial structures suggests that if surgical intervention is needed to enable better breathing, the goal of the structural correction should be aimed at the most deficient structure, namely the ramus height. As a result of severe dentofacial deviation, a treatment process through the growth requires multidisciplinary teamwork of surgeons, pediatrists, orthodontists and prosthodontists.

Airway Obstruction↗

PubMed2005

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. We have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. In two kindreds, we could document de novo mutations, both of them changing a codon for a glutamine residue to a stop. No mutation could be detected in the four VWS kindreds from Finland, suggesting a founder effect for a mutation in an atypical noncoding position. Our findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.

Cleft Lip↗

PubMed2004

Cephalometric pharyngeal changes after Le Fort I osteotomy in different types of clefts.

Fifty patients with clefts (30 unilateral cleft lip and palate (UCLP), 9 bilateral cleft lip and palate (BCLP), and 11 cleft palate only (CP), mean age 25 years) treated with Le Fort I osteotomy were compared retrospectively from cephalograms taken shortly before operation, and at six months and one year postoperatively. Patients with bimaxillary surgery or previous velopharyngoplasty, or both, were excluded. Maxillary advancement was moderate in all groups. One year postoperatively there was a significant change (73%-90% of the surgical advancement) in the sagittal depth of the nasopharyngeal airway but not in the depth of the oropharyngeal airway, the length of the soft palate or the position of the hyoid bone. The nasopharyngeal airway was largest in the CP group both preoperatively and postoperatively. Eleven patients (7 CP, 4 UCLP) had a velopharyngoplasty after the osteotomy to improve their speech. There was no difference in the nasopharyngeal airway in the patients treated by velopharyngoplasty compared with those not so treated, but they seemed to have the shortest maxillas and the greatest surgical changes vertically.

Adolescent↗

PubMed2004

Unexpected events during mandibular distraction osteogenesis.

Various unexpected events during mandibular distraction osteogenesis are described in 16 syndromic children with severely retrognathic or asymmetric lower jaws who were treated with unilateral or bilateral extraoral distraction. The mean total time with the distraction devices attached was 14 weeks (range 10-19). Although improvement in facial aesthetics and the desired occlusion was achieved in all but one case, there were unexpected events associated with mandibular distraction. These included pain not related to the operation, functional disturbance in movement of the jaw, dietary problems, weight loss, unfulfilled expectations of decannulation, temporary unilateral facial nerve palsy, and transient unilateral hypoaesthesia of the inferior alveolar nerve. Reoperation was required in 5 of the 16. In addition to these events, psychosocial problems within one family complicated the procedure. Patients and their families should be informed of the lesser-known aspects of distraction osteogenesis before the procedure is used.

Adolescent↗

PubMed2004

A case study of amnion rupture sequence with acalvaria, blindness, and clefting: clinical and psychological profiles.

The purpose of this article is to report the case of a 10-year-old girl born with anophthalmia, bilateral oblique facial clefts, and missing scalp and bones over the temporal and parietal areas of the cranial vault bilaterally. Early amnion rupture seems to be the most probable cause of this rare combination of anomalies. Because no similar case has been reported in the literature so far, we describe here the clinical and psychosocial history of this unusual patient, who has been able to live the intellectually and socially normal life of a blind child in spite of the major craniofacial deformities. The already completed and possible future therapeutic strategies are discussed.

Amniotic Band Syndrome↗

PubMed2003

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.

Cleft Palate↗

PubMed2003

Long-term effect of pharyngeal flap surgery on craniofacial and nasopharyngeal morphology in patients with cleft palate.

The craniofacial morphology of 48 consecutive adult males with isolated cleft palate was studied by means of lateral cephalograms at the mean age of 18.8 years. Twelve of the patients had received pharyngeal flap surgery between 4 and 12 years of age (mean age 6 years) to improve speech. No significant differences were noticed in craniofacial cephalometric relations between the patients who had not had velopharyngeal flap surgery (VPF-) and those who had (VPF+), although the latter showed a tendency toward a more vertical growth direction. In the pharynx, the VPF+ group showed larger sagittal depths of nasopharyngeal airway but smaller depths of oropharyngeal airway. The differences were significant at the levels of the upper nasopharynx and lower oropharynx. According to the hospital records, none of the patients demonstrated persistent airway obstruction. Cephalometry may be useful in evaluating the changes in pharyngeal airway dimensions that may be related to velopharyngeal flap surgery.

Adolescent↗

PubMed2002

Pinhole osteotomy in distraction osteogenesis - a technical note.

A new surgical approach for performing the mandibular osteotomy for distraction osteogenesis is described. In order to minimize trauma to bone caused by the osteotomy - and adjacent soft tissue - caused by excessive stretching - an additional transbuccal pinhole incision is made. The shaft of the saw blade is passed through this incision. This allows a precise cut of the mandibular ramus at the planned angle and easy guidance of the saw during the procedure. The method can be used both with extraoral or intraoral distraction devices in children and adults.

Adult↗

PubMed2002

Cephalometric pharyngeal changes after Le Fort I osteotomy in patients with unilateral cleft lip and palate.

Pharyngeal changes after Le Fort I osteotomy were evaluated cephalometrically in 37 patients (27 M, 10 F; mean age 23.8 years) with unilateral cleft lip and palate (UCLP). Seven patients had previously undergone velopharyngeal (VPP) flap surgery to improve speech. One year postoperatively the patients without previous VPP showed a significant change (55%-85% of the surgical change) in the upper and lower sagittal depth of the nasopharyngeal airway, but not in the depth of oropharyngeal airway, length of soft palate, or position of hyoid bone. No significant changes were observed between 6 months and 1 year postoperatively. Mean surgical horizontal advancement was 4.7 mm and the mean vertical lengthening 4.7 mm anteriorly and 1 mm posteriorly. There was a correlation between the amount of horizontal advancement and the amount of change in the nasopharyngeal airway. The patients with previous VPP showed significant postoperative change (85% of the surgical change) only in the lower nasopharyngeal airway, although their surgical advancement was similar to that without previous VPP. Patients with previous VPP showed significantly smaller depths of upper nasopharyngeal airway postoperatively than the patients without previous VPP. Five patients (13%) needed VPP after the osteotomy. There was no difference in the nasopharyngeal airway in the patients with VPP after the osteotomy when compared to those without, but they seemed to have shortest maxillary lengths and largest mean surgical changes vertically both anteriorly (5.5 mm) and posteriorly (2.3 mm). Moderate maxillary advancement in UCLP patients results in significant changes in the nasopharyngeal airway.

Adolescent↗

PubMed2002

Auditory ERPs reveal brain dysfunction in infants with plagiocephaly.

It is suspected that the developmental delay in school-aged children diagnosed as infants suffering from plagiocephaly is caused by the modification of the skull form. To detect possible cognitive impairment in these children, we examined auditory ERPs to tones in infant patients. The infants with plagiocephaly exhibited smaller amplitudes of the P150 and the N250 responses to tones than healthy controls. Differences between the patients and control subjects indicate that already at this early age the presence of the plagiocephalic skull signals compromise of brain functioning. The present data suggest that most of the plagiocephalic infants have an elevated risk of auditory processing disorders. In the current study we demonstrated, for the first time, that the central sound processing, as reflected by ERPs, is affected in children with plagiocephaly.

Analysis of Variance↗

PubMed2002

Auditory sensory impairment in children with oral clefts as indexed by auditory event-related potentials.

Children with nonsyndromic oral clefts and with the CATCH 22 syndrome (acronym for cardiac defects, abnormal faces, thymus hypoplasia, clefts, and hypocalcemia) display a range of language and learning disabilities, the neurofunctional bases of which are not yet understood. This review summarizes recent event-related brain potential (ERP) studies on central auditory processing in infants and children with different cleft types and presents an effort to integrate these ERP and earlier behavioral findings into a workable hypothesis on the mechanisms of cognitive impairment in the oral cleft population. The encoding of the acoustic sound features and the functioning of auditory sensory memory (ASM) were studied by recording cortical auditory ERPs. Tapped were two ASM functions: tone pitch discrimination and the duration of sensory memory for tone pitch. In infants with cleft palate, tone pitch discrimination was impaired at birth and at 6 months of age. In infants with cleft lip and palate, no ASM impairment was detected at either age. In school-aged children with clefts and CATCH 22 syndrome, the discrimination of tone pitch was intact under optimal stimulation conditions. However, in these children, shortened duration of ASM was observed, with the magnitude of its shortening covarying with cleft type and being most pronounced in children with CATCH 22 syndrome. The different types of ASM dysfunction found in children with different cleft types could not be accounted for by the peripheral hearing deficits. The relation between ASM dysfunction and known behavioral cognitive disability profiles in children with different cleft types suggests that ASM is implicated in language disabilities of children with oral clefts. Furthermore, it appears that the ASM impairment and oral clefting are linked in a comorbid fashion.

Analysis of Variance↗