A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families.
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Biomedical subjects
Publications and source records attributed to J Hukki.
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The skeletal stability of Le Fort I osteotomy was evaluated retrospectively in 14 patients with isolated cleft palate (CP, mean age 27.2 years) and 11 patients with bilateral cleft lip and palate (BCLP, mean age 23.7 years). The osteotomy was fixed with titanium plates and the osteotomy gap was grafted with autologous bone. Neither intermaxillary fixation nor occlusal splints were used postoperatively. Skeletal stability was analysed both horizontally and vertically by cephalograms taken shortly before operation, immediately afterwards, and at six months and at one year postoperatively. In the CP group the mean maxillary horizontal advancement (point A) was 4.7 mm (range 0.3-7.8) and the mean vertical lengthening 3.6 mm (range 0.7-6.1). One year postoperatively the mean relapse was 8.5% (0.4 mm) horizontally and 16.7% (0.6 mm) vertically. In the BCLP group the mean horizontal advancement was 5.3 mm (range 0.2-10.7) and the mean vertical lengthening 7.3 mm (range 0.6-11.8). The mean postoperative relapse was 9.4% (0.5 mm) horizontally and 17.8% (1.3 mm) vertically. The skeletal stability and relapse were similar in both cleft types although BCLP patients had more residual cleft problems and their mean surgical advancement was greater. There was great individual variation.
Microvascular temporomandibular joint (TMJ) and mandibular ramus reconstruction was performed in a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (Goldenhar syndrome). Her major craniofacial anomalies included bilateral cleft lip and palate, left macrostomia, left microtia, and complete absence of the left vertical mandibular ramus and TMJ. Most of her other anomalies had been corrected surgically before TMJ and vertical mandibular ramus reconstruction, which was accomplished with a metatarsophalangeal (MTP) joint transplantation. The MTP joint was placed in hyperextended position in the skull base inserting the proximal phalanx under the remnants of the zygomatic arch and replacing the vertical mandibular ramus with the metatarsal bone. Straight mouth opening, correction of the midline, and normalized lateral movements of the mandible were accomplished. The graft includes two epiphyseal plates, which should maintain growth of the transplant. During the follow-up period (16 months) the achieved results have been maintained without adverse effects. The present technique appears to be a promising alternative in the treatment of children with Pruzansky type 3 hemifacial microsomia.
PURPOSE: This cephalometric study describes structural changes in facial features and occlusion during distraction of the mandible. PATIENTS: Seven patients aged 7-16 years with severely retrognathic lower jaws were treated by bilateral extra-oral distraction. The direction of the distraction was changed during the distraction period (mean 30 days) using the adjustable hinge in the distractor. Cephalometric follow-up documents were analysed for changes in facial and occlusal structures. The distraction therapy proceeded in two phases. First, horizontal distraction was undertaken to achieve a good incisor relationship. After this, the direction was changed to a more vertical plane with the use of a hinge axis, and the tips of the lower incisors were used as the axis of rotation. RESULTS: The most remarkable changes were in the more anterior position of the lower jaw, the increase in ramus height and good dental overjet. The mandibular occlusal plane became more horizontal, creating a posterior open bite. By guiding the vector of distraction, no anterior open bite or lateral crossbite appeared. CONCLUSION: This study points out the advantages of using extra-oral multidimensional distractors. Severe lower jaw deficiency requires not only a long working length of the device but also precise control of the vector during the active phase of distraction.
The skeletal stability of Le Fort I osteotomy was evaluated cephalometrically in 40 consecutive patients with unilateral cleft lip and palate (UCLP) (27 male and 13 female) who were operated on between 1987-1995. Their mean age at the time of operation was 23.7 years (range 16.3-40.4). The one-piece Le Fort I osteotomy was fixed with titanium plates and the osteotomy line was bone-grafted. Neither intermaxillary fixation nor occlusal splints were used postoperatively. Skeletal stability was analysed both horizontally and vertically on cephalograms taken shortly before operation, immediately afterwards, and at six months and at one year postoperatively. The mean maxillary advancement (point A) during the Le Fort I was 3.9 mm (range 0-8.9) and mean vertical lengthening 4.5 mm (range -0.6-10.5). One year postoperatively the mean maxillary horizontal relapse was 20.5% (0.8 mm, range 0-3.7) whereas the mean vertical relapse was 22.2% (1 mm, range 0-5.7). The vertical relapse reduced from 38% to 8.3% between 1987 and 1995, and there was a positive correlation between the amount of maxillary advancement and relapse both horizontally and vertically.
The soft tissue thickness before and after Le Fort I osteotomy was evaluated in 46 cleft patients. The sample consisted of 10 patients with isolated cleft palate (CP, mean age 25.5 years); 10 patients with bilateral cleft lip and palate (BCLP, mean age 21.7 years); and 26 patients with unilateral cleft lip and palate (UCLP, mean age 22.9 years). Patients with bimaxillary surgery, simultaneous rhinoplasty, or V-Y plasty of the upper lip were excluded. Soft tissue changes were analyzed by cephalograms taken shortly before surgery and at 6 months postoperatively. Horizontal advancement varied from 4.1 mm in the UCLP group to 5 mm in the BCLP group. The vertical lengthening varied from 3.7 mm in the CP group to 7.2 mm in the BCLP group. In all cleft types, thinning of the subnasal area, superior labial sulcus, and upper lip (anterior nasal spine-subnasale, point A-soft tissue point A, and prosthion-labrale superius) took place. Significant thinning of the upper lip occurred in the UCLP and BCLP patients. Surgical changes of the lower lip and mandibular area were small and insignificant. There were significant differences in soft tissue thicknesses between different types of clefts. The subnasal area and superior labial sulcus were significantly thicker in the CP group than in the BCLP or UCLP groups, both pre- and postoperatively. The upper lip was thickest in the BCLP group preoperatively but thickest in the CP group postoperatively. The upper lip was thinnest in the UCLP group both before and after the operation.
Language and learning disabilities occur in almost half of individuals with oral clefts. The characteristics of these cognitive dysfunctions vary according to the cleft type, and the mechanisms underlying the relation between cleft type, cognitive dysfunction, and cleft-caused middle-ear disease are unknown. This study investigates preattentive auditory discrimination, which plays a significant role in language acquisition and usage, in infants with different cleft types. A mismatch negativity (MMN) component of brain evoked potentials, which indexes preconscious sound discrimination, and brain responses to rare sine-wave tones were recorded in 12 healthy infants and 32 infants with oral clefts at the ages of 0 and 6 months. Infants with clefts were subdivided into two categories: those with cleft lip and palate (CLP) (n=11 at birth, n=6 at the age of 6 months) and those with cleft palate only (CPO) (n=17 at birth, n=8 at the age of 6 months). At both ages, brain responses to rare sounds tended to be smaller in both cleft subgroups than in healthy peers. However, in the latency range of 300 to 500 ms, the MMN was significantly smaller in infants with CPO. In infants with CLP, the MMN was comparable to that of healthy infants. Differences in auditory discrimination between infants with CLP and CPO, as reflected by MMN, were detectable at birth and persisted into later infancy. This pattern parallels known behavioural differences between children with these cleft types. Brain responses to rare sounds, in contrast, had no differentiative power with respect to the cleft type.
The changes in soft tissue profile after Le Fort I osteotomy were evaluated cephalometrically in 38 consecutive UCLP patients (25 males, 13 females) operated on between 1987 and 1995. Mean age at operation was 23.5 years. The one-piece Le Fort I osteotomy was fixed with titanium plates and the osteotomy site was bone grafted. Neither intermaxillary fixation nor occlusal splints were used postoperatively. Soft tissue changes were analyzed both horizontally and vertically by cephalograms taken shortly before surgery, 6 months and 1 year postoperatively. The mean maxillary skeletal advancement (point A) during surgery was 3.8 mm and mean vertical lengthening 4.4 mm. One year postoperatively the horizontal change in the upper lip profile (point a) was 80% of the skeletal change. Vertically, the soft tissue change in the upper lip was smaller 40%, but increased significantly (to 58%) if V-Y plasty was used. The V-Y plasty also increased the anteroposterior thickness of the upper lip. No significant soft tissue changes were observed between 6 months and 1 year postoperatively.
OBJECTIVES: Our recent studies have demonstrated that the brain's automatic change-detection response, the mismatch negativity (MMN) of the event-related brain potential (ERP), is significantly attenuated in school-age children with CATCH syndrome and in children of the same age with cleft palate but without the CATCH syndrome. Among other problems, various kinds of learning difficulties are commonly reported in these patient groups. The present study aimed at investigating whether the MMN is attenuated already in newborns with cleft palate compared with healthy controls. METHODS: Stimuli of 1000 Hz were presented frequently and 1100 Hz infrequently to 9 neonates with cleft palate and to 8 healthy controls. Infrequent 1100 Hz stimuli elicited a prominent MMN in all of the healthy children, but only in 3 of the 9 infants with cleft palate. RESULTS: A significant difference in the mean amplitudes of responses to deviant tones between the healthy and cleft palate neonates was found. CONCLUSIONS: MMN may indicate brain dysfunctions long before they have manifested themselves in cognitive disabilities, which would enable one to identify the infants with an elevated risk and to start their rehabilitation much earlier than before.
OBJECTIVE: Up to 46% of individuals with oral clefts suffer from language-learning disabilities. The degree of these disabilities varies according to cleft type. The pathogenesis of cognitive malfunctioning or its relationship with cleft type is not known. We investigated persistence of auditory short-term memory (STM) that is implicitly involved in language-specific perception in children with clefts, grouped using fine-graded cleft classification. METHODS: Cortical evoked potentials were recorded in 78 children with non-syndromic oral clefts and in 32 healthy peers. A mismatch negativity (MMN) potential that indexes preattentive detection of change in auditory input was obtained in response to tone sounds. In order to test durability of short-term memory traces, sounds were presented with three stimulation rates. RESULTS: With slowest stimulation, MMN amplitudes were reduced in cleft children as compared to the healthy peers (P < 0.00065). Only cleft-lip children did not significantly differ from controls. Among isolated palatal clefts, the more posteriorly delimited the cleft was, the smaller was the amplitude of MMN. MMNs of smallest amplitudes were obtained in the subgroup of complete unilateral cleft of lip and palate. CONCLUSIONS: Reduced MMN amplitudes, found in cleft children, imply deficiency in auditory STM trace maintenance. This dysfunction is likely to contribute to their language and learning disabilities. The MMN diminution with shorter/more posterior clefts suggests that differences in auditory cortex function are one of the underlying mechanisms of the cleft type-malcogniton association.
Our recent study demonstrated with the brain's automatic change-detection response, the mismatch negativity (MMN) of the event-related potentials (ERPs), that the duration of auditory sensory memory is significantly shorter in school-age children with CATCH syndrome than in healthy age-matched controls. One of the characteristic symptoms of this syndrome, caused by a microdelection in chromosome 22, is cleft palate. The most common problems in these children, however, are learning difficulties and, according to our results, it is likely that these problems are not due to the dysmorphology of peripheral speech mechanisms only but are also caused by CNS dysfunctions. In the present study we show with MMN that auditory sensory memory is also shortened in school-age children with cleft palate but without the CATCH syndrome. It has been shown in previous studies with neuropsychological tests that although children with cleft palate have language and learning-related problems these difficulties are usually less severe than those of CATCH children. Likewise the present study demonstrates that the auditory sensory memory trace seems to decay more rapidly in CATCH children than in children with cleft palate.
CATCH syndrome, caused by a microdelection in chromosome 22, is characterized by cleft palate and cardiac anomalies. The majority of these children also have learning difficulties or speech and language deficits. These problems are often due to the dysmorphology of the articulatory system. In the present study, the duration of auditory sensory memory, which is of central importance to speech perception and understanding, was investigated. As a research method we used mismatch negativity (MMN), an attention independent event-related potential, which provides an objective electrical index of auditory sensory memory. The present data suggest that the duration of this memory span is considerably shorter in 6-10-year-old children with CATCH than in healthy controls. Thus, the language-related problems encountered in children suffering from CATCH syndrome are likely to be caused also by CNS dysfunctions.
Maxillary advancement may result in movement of the posterior border of the hard palate with its soft palate attachment, which may cause impairment of velopharyngeal (VP) function. We examined VP function before and after Le Fort I osteotomy in 15 cleft lip and palate patients. The extent of maxillary advancement was measured by means of standard cephalometric radiographs taken before and after the operation. VP function was evaluated in terms of perceptual speech assessments, pressure-flow data and nasalance scores preoperatively and 2, 6 and 12 months after the operation. The results showed that maxillary advancement resulted in impairment of VP function in 4 (27%) of the patients.
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A histochemical method for demonstrating lactate dehydrogenase activity was used in addition to standard Van Gieson stain to study early alterations near wounds made in pig skin by steel scalpel, electrocautery, two modes of CO2 laser (the rapid super-pulse mode and the continuous wave mode), and contact Nd:YAG laser. The enzyme-free zone near the wounds made using the thermal knives appeared to be twice as wide as the necrotic zone observed with Van Gieson stain. In polarized light, the enzyme-free area showed two zones of equal width with respect to birefringence of collagen fibers. The zone lacking birefringence correlated well with that observed with Van Gieson stain. The birefringent zone represented functionally damaged tissue with more or less normal structures by light microscopy. The damage to adjacent tissue caused with the thermal knives seems to be considerably larger than has usually been reported.
Supradiaphragmatic inferior vena cava was transplanted end-to-end into the abdominal aorta of 11-week-old rats of the same inbred strain and same litter using microvascular technique. The grafts were removed 3 days, 4, 8, 16, and 35 weeks postoperatively, and their noradrenaline (NA) content was estimated by high-performance liquid chromatography using electrochemical detection. The amount of NA was significantly lower (P less than .001) in all vein grafts as compared to nontransplanted vena cava. The substantial decrease of NA in the vein grafts throughout the observation period indicates a persistent denervation of the transplant.