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Reduced brain perfusion and neurocranial shape abnormalities of the temporal regions in patients with Klinefelter syndrome.

OBJECTIVES: In patients with Klinefelter syndrome dissocial behaviour, learning difficulties and low intelligence are common. Thus, the aim of our study was to perform brain perfusion studies and cranial cephalometry in 27 cases of Klinefelter syndrome and compare the results with those in a group of 26 healthy subjects. METHODS: Single photon emission tomography (SPECT) was performed after injection of 20 mCi 99mTc-HMPAO and the data from transaxial slices were analyzed for 46 regions of interest in the cerebellar, thalamic, ventricular and parietal planes. Right/ left ratios were calculated and differences above 10 per cent were considered abnormal. Skull radiographs in frontal and lateral view were taken and measurements of the cerebral part were made. RESULTS: SPECT imaging in 27 Klinefelter patients revealed 82 hypoperfusion foci, most frequently in temporal regions, less frequently in temporoparietal and frontal regions, whereas only 11 hypoperfusion foci in 6 of the 26 control subjects were found. Skull radiography revealed the following abnormalities : flattening of the temporal regions, reduced width of the vault, shortening of the anterior cranial fossa and definitely reduced angle of the cranial base; all these anomalies differed significantly from those in the skulls of the control subjects. CONCLUSIONS: The high coincidence of the location on the temporal regions of brain perfusion defects and the neurocranial shape anomalies indicate that an extra X chromosome in Klinefelter patients has detrimental effects on the temporal lobe development and function.

Adolescent↗

[Effectiveness of combined surgery for treating severe obstructive sleep apnea hypopnea syndrome].

OBJECTIVE: To explore the efficiency of a comprehensive surgical approach of genioglossus advancement and hyoid suspension (GAHM) plus uvulopalatopharyngoplasty (UPPP) for treating severe obstructive sleep apnea hypopnea syndrome (OSAHS) and to evaluate related factors on surgery outcomes. METHODS: Eighteen patients with severe OSAHS (apnea hypopnea index, AHI > 40/h) confirmed with polysomnography received genioglossus advancement and hyoid suspension plus uvulopalatopharyngoplasty. The obstruction in both the oropharynx and the hypopharynx were evaluated by preoperative physical examination, fiberoptic pharyngolaryngoscopy, cephalometry, and computed tomography of the upper airway. The follow up was at least 6 months postoperatively. The Wilcoxon signed rank test was used to compare the preoperative and postoperative results by SPSS 11.0 for windows. The Mann-Whitney test was used to analyze the difference between responders and nonresponders. RESULTS: The follow up time ranges from 6 to 24 months, there were statistically significance in all but body mass index (BMI) between preoperative and postoperative measurements. Mean AHI was reduced from preoperative (x +/- s, 63.8 +/- 16.3)/h to postoperative (23.6 +/- 19.5)/h, lowest mean oxygen saturation increased from 0.72 +/- 0.07 to 0.81 +/- 0.13(x +/- s). According to criterion at home, the 6-month rate of responder is 83%, if AHI <20/h and decreased by at least 50% as success, the rate of success is 67%. The age, posterior airway space (PAS) and percentage of time with oxyhemoglobin saturation below 0.90 (CT90) were (39.1 +/- 7.4) years, (8.3 +/- 0.9) mm, (18.5 +/- 10.9)% in responder, while (52.5 +/- 9.4) years, (6.8 +/- 1.3) mm, (37.7 +/- 23.6) % in nonresponder, and there are statistically significant between responder and nonresponder. CONCLUSIONS: GAHM plus UPPP is effective surgical approach for patients with severe OSAHS who suffer from oropharyngeal and hypopharyngeal obstruction. Age, PAS and CT90 were possible affective factors on surgical outcomes.

Adult↗

[Surgical treatment of hemifacial microsomia].

OBJECTIVE: To summarize the methods and experiences in surgical treatment of hemifacial microsomia. METHODS: Fifty-eight cases of hemifacial microsomia that have been treated by plastic and reconstructive surgery and followed-up in our department during last 20 years have been reviewed. Every patient's characteristic was assessed by physical examination, photography, craniofacial cephalometry before planned the method of surgery. Different surgical treatments were chosen according to the side and the structures involved in the abnormalities and the severity of hemifacial microsomia, and the cases were followed up since 3 months after the treatments. The follow-up lean of midline of the lower 1/3 face with that before treatment is compared. The degrees of patients' and surgeons' satisfactions with the treatments were evaluated respectively. RESULTS: The average angle of lean of midline of skeletal and soft tissue of the lower 1/3 face decreased 4.2 degrees and 2.9 degrees respectively after treatment. Fifty (82.6%) cases satisfied with the outcome of the surgical treatment and surgeons satisfied with 84.5% of the outcome of all the cases. CONCLUSIONS: Individual surgical treatment based on the side and the structures involved in the abnormalities can effectively correct facial asymmetry of hemifacial microsomia.

Adolescent↗

Local norms of maternal serum alpha-fetoprotein values in early second trimester: a prelude to a Down's syndrome screening programme incorporating maternal serum alpha-fetoprotein values.

Maternal alpha-fetoprotein in (MSAFP) has recently been proposed for screening of Down's syndrome. This is based on the association of a lowered MSAFP level at a given gestational age in Down's syndrome (DS) pregnancies. Most conventional 'screening' programmes in DS are based on the maternal age alone, selecting older mothers, who are at greater risk of having a DS infant born, for antenatal karyotyping. However, as 75% of DS infants are born to mothers less than 35 years old, a combination of blood tests including MSAFP and maternal age as independent risk factors would screen the younger mothers as a good cost-benefit ratio in selecting the 'at-risk' mothers for karyotyping. In this study, the gestational age was calculated from the first day of the last menstrual period (LMP) as well as from ultrasound cephalometry. The local MSAFP levels follow the same trend at a slightly higher level as those based on clinical evaluation of the Abbot AFP-EIA Monoclonal kits.

Down Syndrome↗

Sleep-disordered breathing in patients with acquired retrognathia secondary to rheumatoid arthritis.

BACKGROUND: Sleep-disordered breathing (SDB) is associated with a variety of conditions that cause upper-airway narrowing. It was hypothesized that upper-airway narrowing can occur in patients with rheumatoid arthritis (RA) when retrognathia develops secondary to temporomandibular joint (TMJ) destruction. Therefore, the aim of this study was to detect the prevalence of SDB in patients with acquired retrognathia secondary to rheumatoid arthritis and to assess the efficacy of nasal continuous positive airway pressure (nasal CPAP) therapy in patients with SDB. MATERIAL/METHODS: Employed were a questionnaire, lateral cephalometry, and overnight polysomnography in seven women and three men (mean age +/-SD: 50+/-20 years, mean body mass index: 24.2+/-5.7 kg/m(2)) with acquired retrognathia secondary to RA. RESULTS: Three patients had severe obstructive sleep apnea (OSA) with apnea+hypopnea indices (AHI) >60/hour, three had mild obstructive sleep hypopnea (AHI >10/hour), and four had AHI <10/hour. The three patients with severe OSA all had excessive daytime sleepiness and evidence of retrognathia. In these three patients the mean AHI decreased from 72/hour to 3/hour with nasal CPAP therapy. CONCLUSIONS: SDB occurs quite frequently in non-obese patients with acquired retrognathia secondary to RA. The severity of SDB is related to the degree of retrognathia and the presence of daytime sleepiness. Nasal CPAP therapy is effective and well tolerated in these patients.

Adult↗

[Effect of two stage corticotomy on maxillary protraction].

For the purpose of clarifying the effects of two stage corticotomy on maxillary protraction, experimental studies by using of 5 male Japanese monkeys (Macaca fuscata) were performed. Results from cast analysis, roentgenographic cephalometry and histological examinations were as follows. I. In experimental groups that received two stage corticotomy with maxillary protraction, apical base of maxillary bone protruded markedly. II. In control groups that maxillary protraction was applied without corticotomy, sutured area around maxilla seemed to be influenced by orthopedic force. However, hardly any influence from orthopedic force was seen in experimental groups. III. In both groups individual teeth of upper dental arch hardly moved. IV. After two stage corticotomy, no circulatory disturbance in maxillary bone except for reactive inflammation of pulp in anterior teeth and vacuolar degeneration in anterior teeth and posterior teeth was seen, and periodontal tissue remained almost unaffected. This suggested that corticotomy should be performed carefully, especially in anterior apical base of maxillary bone.

Animals↗

[Apical root resorption of maxillary central incisors following orthodontic treatment].

This research shows the relationship between orthodontic treatment and apical root resorption. The latest edgewise appliance with a pre-adjusted bracket (Alexander method) was used in the present experimentation. Examination by roentgen cephalometry and intraoral radiography was performed before and after the maxillary central incisors had been moved orthodontically. The conclusion is that there was no significant difference among the grade 0, 1, 2 and 3 of apical root resorption in the change of long axis inclination of the maxillary central incisors. But there was a significant difference among the grade 0, 1, 2 and 3 of root resorption in the distance of the apical root movement. The most apical root resorption was observed when the apical root was moved lingually.

Humans↗

Finite element method comparison of murine mandibular form differences.

The differences of adult female murine mandibular form between two inbred strains of mice (BALB/cBy and C57BL/6By) were analyzed by use of the finite element method (FEM). In the present instance, this method overcomes the conceptual and methodologic constraints of both craniometry and roentgenographic cephalometry by providing two-dimensional, reference-frame-invariant, independent comparisons of the size, shape, and location of the point continua enclosed within the boundaries for each local, finite element into which the mandible was discretized. At the present scale of observation, it is suggested that the FEM kinematic descriptions of form comparisons can be correlated with dynamic interpretations offered by the functional matrix hypothesis, i.e., that certain discrete, causal relationships exist between the continuum form of single elements and the form, or function, of anatomic structures associated with these elements. It is concluded that, in addition to its previously demonstrated use in the analysis of growth, the finite element method seems well suited for comparisons of form.

Animals↗

Genetic and environmental factors in the longitudinal growth of rats: I. Body weight and overall craniofacial size.

By means of roentgenographic cephalometry and quantitative genetic analysis, the relative contribution of the genetic and environmental components to total variance of body weight and overall craniofacial size was shown to vary with age. The genetic component of variance significantly increased until 80 days of age. Inversely, the maternal component of variance showed a high value during the early stage of postnatal growth and gradually decreased thereafter to a very small amount by day 80. Thus it appeared that the genetic effect became larger with age of the rat and the maternal effects diminished. The environmental component of variance did not change much over the course of the experiment. We thus conclude that genetic effect contributed the change of ontogenetic variation of craniofacial complex through all experimental periods and that maternal effect contributed to it at early growth stage of the craniofacial complex.

Aging↗

The application of the finite element method to the analysis of craniofacial growth and form.

It has been shown previously that all customary methods of analysis of craniofacial skeletal growth, closely based on the techniques of roentgenographic cephalometry, share common geometric and conceptual constraints that make all such descriptions reference frame dependent; i.e., these descriptions vary with each method of registrations and superimposition (stacking) of growth cross-sections (x-rays). The use of the concepts of continuum mechanics, and of the numerical techniques of the finite element method, permit a reference frame invariant tensor description of growth. An example of this method is provided by the analysis of the growth of the rat neurocranium and maxillary complex in the period 13-49 days of age. The finite element method should find wide application in the description of cephalic growth, in normal and pathological conditions.

Animals↗

Computerized imaging for soft tissue and osseous reconstruction in the head and neck.

Recent developments in computer-aided medical imaging coupled with the related emergence of computer-aided design and manufacturing technology have had a significant effect on our management of patients with congenital and acquired head and neck deformities. In our institution, plain film skull radiography, cephalometry, and pluridirectional tomography have been largely replaced by high-resolution CT scanning augmented by planar reformations and three-dimensional surface reconstructions. A sophisticated computer-assisted radiologic imaging unit has been established to assist the surgeon and researcher. This marriage of advanced radiographic techniques, industrial computer-aided design technology, and clinical surgery have allowed us to better define aberrant anatomy, design new operative solutions for familiar as well as unusual problems, and quantitate changes of surgery and growth over time.

Adolescent↗

Velopharyngeal variations in relatives of cleft-affected individuals.

Eighteen families each with two or more cleft lip and palate patients were studied by speech cephalometry for evidence of velopharyngeal inadequacy (VPI). With this total of 56 persons, three groups were recognized: 1) patients with cleft lip only (N = 7), 2) unaffected sibs of CL(P) probands and the unaffected parents with the positive clefting history on their side of the family (N = 33), and 3) unaffected parents with negative CL(P) history to their side of the family (N = 16). The latter served as controls. The velopharyngeal mechanism in function was evaluated by voicing the fricative/S/. The results showed no significant differences in the length of either the resting soft palate or pharyngeal depth among the three groups. Even though a significant (P less than 0.01) increase in soft palate length while voicing /S/ was found in group 2 relatives compared to group 3 controls, the failure to find differences in either resting palate length or pharyngeal depth coupled with a failure to demonstrate VPI in group 2 subjects by speech testing leaves the value of this observation uncertain.

Analysis of Variance↗

[Clinical course of pregnancy and labor following in-vitro fertilization].

Data of 11 pregnancies (1 twin-pregnancy - 12 deliveries) achieved by in-vitro-fertilization and embryotransfer on infertile patients are reported. For most patients pregnancy was almost normal; 2 patients had threatened premature labour. In 5 cases there was evidence of moderate EPH-gestosis. In many of the women excessive weight gain was observed although estriol and human chorionic somatotrophin values were within the normal range. Intrauterine growth was normal according to echographic cephalometry. In 4 pregnancies delivery was by cesarean section after spontaneous onset of labour. All newborn babies were healthy and developed normally. The sex ratio was 7: 5 girls to boys (including one set of female twins). From fertilization the duration of the pregnancies was 265 +/- 5 days which corresponds with previous calculations based on the monitoring of ovulation. Calculated from implantation, presumably 5 days after fertilization, duration of pregnancy was 260 +/- 5 days.

Adult↗

Abilities of children who were small-for-gestational-age babies.

A follow-up study of 51 small-for-gestation-age babies, whose intrauterine growth was monitored by serial ultrasonic cephalometry, was carried out at a mean age of 5.1 years. The developmental abilities of the children were assessed by using the McCarthy Scales of Children's Abilities and the results were compared with those of a group of matched control subjects. Children whose head growth began to slow before 26 weeks' gestation had significantly lower scores for the general cognitive index than control children. This did not occur in children whose head growth began to slow later in gestation. Scores for Perceptual-performance and Motor scales in the McCarthy scales were also lower for the children whose head growth slowed before 26 weeks' gestation, when compared with those of control children. There were no differences in the developmental scores of the children when they were divided into groups according to birth-weight percentiles. We conclude that prolonged slow growth in utero affects a child's later development and abilities, in particular, perceptual performance and motor ability.

Birth Weight↗

[Role of ultrasonography in attention to multiple pregnancy (author's transl)].

Ultrasonic examination, 482 in totality, were applied to 199 cases of multiple pregnancy, between the twelfth and 41st weeks of gestation. Gestation periods were successfully extended by improved early diagnosis and well-timed prophylaxis of premature births which had all been enabled by the availability of ultrasonography. The period under review was from 1977 to 1979, and gestational periods of 37 weeks and more were reached, within these three years, by 76 per cent of all women with twin pregnancy. Reference is made to issues relating to the use of ultrasonography on multiple pregnancies both prior to the 20th week and in a highly advanced stage. -- Great importance to diagnosis and monitoring of multiple pregnancies with differentiated growth is being assumed by ultrasonic cephalometry and thoracometry. Intensive treatment is, in any case, required by twin pregnancies in which biparietal diameters differ by 5 mm or more.

Female↗

Cesarean delivery in a gorilla.

A mature lowland gorilla (Gorilla gorilla) in the Los Angeles Zoo had destroyed 3 successive infants. To avoid a recurrence, active intervention was instituted during its 4th pregnancy. The period of gestation was estimated by physical examination, radiography, and amniocentesis. Intrauterine growth was followed by serial ultrasonographic cephalometry. When fetal maturity was achieved, as determined by amniotic fluid phospholipid profile, the fetus was delivered by cesarean section.

Amniocentesis↗

[Anatomical alterations of the upper airway in the sleeping apnea syndrome. Diagnostical and therapeutic implications].

In this paper are assessed through ENT-exam, rhinomanometry and cephalometry both bipedal and in dorsal decubitus, the anatomical alterations occurring in the upper airways in 100 consecutive patients, polysomnographically diagnosed of SAOS. The patients were classified in 4 groups (after Fujita's modified classification): 2 having oropharyngeal obstruction (I and IIa) and other 2 with hypopharyngeal obstruction (IIb and III), which were subdivided in its time with nasal obstruction present (N+) or absent (N-). Group I and IIa (68 %) -theoretical candidates to an uvulopalatopharyngoplasty, UPPP-showed its predominance, followed by a high incidence of nasal obstruction (N+, 48 %) and a non negligeable number of hypopharyngeal alterations (32 %).

Adult↗

Fetal movements in utero: nature, assessment, prognostic value, timing of delivery.

Fetal movements in utero are an expression of fetal well-being. However, a sudden increase of fetal movements is a sign of acute fetal distress, such as in cases of cord complications or abruptio placentae. Decreased fetal movements are seen in cases of chronic fetal distress such as preeclampsia, hypertension in pregnancy, etc. It was shown that in these cases a pronounced decrease up to cessation of fetal movements occurred before fetal death in utero while fetal heart beats were still audible for at least 12 hours. This situation was called "movements alarm signal" (MAS). This sign points to a severely disturbed fetus and indicates impending intrauterine fetal death. Such a development is an indication for immediate delivery of the fetus, provided it is viable. High-risk pregnant women are instructed to assess and record fetal movements daily as a monitor of fetal condition. A special device which records fetal movements is used to confirm the women's assessment of fetal movement. It was shown that fetal movement monitoring was found to be more reliable than the urinary estriol determination in predicting impending fetal death in utero. It was also shown that in cases of MAS, fetal heart rate (FHR) changes will appear 1 to 4 days after the MAS has appeared. Meconium was found in only 50% of these cases. Increased fetal movements are manifested as a response to various stimuli such as sound, light, touch, and ultrasound. Classification of high-risk pregnancies into 3 groups according to the hormone assays, enzyme assays, ultrasonic cephalometry, fetal movements, and FHR is suggested.

Acoustic Stimulation↗