Primary and secondary orbit surgery: the transconjunctival approach

The transconjunctival approach to the orbit is underutilized because of concern regarding inadequate exposure and higher postoperative rates of lower eyelid shortening and ectropion. All patients who had a transconjunctival incision performed for orbital surgery over the last 6 years (1990 to 1996) were studied. Patients who had a transconjunctival blepharoplasty were excluded. A total of 35 patients, average age 32 years, had 45 transconjunctival incisions performed. Lateral canthotomy or cantholysis was not done. Operations fell into three categories: fracture plating alone, 10 (22 percent); split-calvarial bone graft placement with or without plating, 26 (58 percent); and orbital decompression, 9 (20 percent). The overall incidence of ectropion was 6.7 percent (3 of 45). One patient (2 percent) had transient ectropion, and two patients (4 percent) had persistent ectropion, which required surgical correction. Ectropion occurred only in those lower eyelids that had a previous transcutaneous incision (3 of 18 = 17 percent). None occurred in those eyelids that had no prior incision or only a previous transconjunctival incision. The transconjunctival approach without a lateral canthotomy provides safe access to the orbit in eyelids that have not had a previous transconjunctival incision.     

Abnormal measurements and disproportions in the face of Down's syndrome patients: preliminary report of an anthropometric study

Using 32 measurements taken from the surface of the cranial-orbital-facial-aural area, 9 proportion indices were calculated to detect the most striking locations of disfigurement in 52 Down's syndrome patients (29 males and 23 females), all white North Americans, aged between 3 and 31 years. A shallow upper-third of the face depth (between the nasal root and the ear's tragi) and a short right auricle were the most frequent subnormal findings (each 71.5 percent), with subnormal palpebral fissures in third place (68.8 percent). The most striking supernormality was the inclination of the palpebral fissure, which was greater than the maximum normal in 46.9 percent. The most striking and frequent (46.9 percent) disproportion was caused by the presence of markedly short palpebral fissures in the vicinity of normal-wide spaces between the eyes (enen), followed by hyperteloric orbits (40.4 percent) and disproportionately short noses (28.9 percent). Major (moderate or marked) epicanthi were found in a high percentage (42 percent) of the patients and aggravated the visual impression of the already damaged orbito-nasal area. Preliminary results of the analysis of the proportion indices in various age groups showed that some disproportions in the orbits and face decreased with age.     

Speech intelligibility after partial glossectomy in children with Down's syndrome

Twenty-three children with Down's syndrome, aged between 3.7 and 17.5 years, underwent partial glossectomy for improvement of cosmetic appearance. Improved speech was also expected. Preoperative and postoperative audiotaped samples of spoken words and connected speech on a standardized articulation test were rated by three lay and three expert listeners on a five-point intelligibility scale. Five subjects were eliminated from both tasks and another four from connected-speech testing because of inability to complete the experimental tasks. Statistical analyses of ratings for words in 18 subjects and connected speech in 14 of them revealed no significant difference in acoustic speech intelligibility preoperatively and postoperatively. The findings suggest that a wedge-excision partial glossectomy in children with Down's syndrome does not result in significant improvement in acoustic speech intelligibility; in some patients, however, there may be an aesthetic improvement during speech.     

Reexamination of paternal age effect in Down's syndrome

Summary Paternal age distribution for 1279 cases of Down's syndrome born in 1952–1968 was compared with the corresponding distribution for the general population, corrected for the maternal age as well as for the year of birth of the patients. Although there was no difference in the mean paternal age, the two distributions differed significantly, largely due to the excess of fathers aged 55 years and over and to the deficit of those aged 40–44 years in the patients born to mothers aged 30 years and over. The overall pattern of the relative incidence of Down's syndrome with advancing paternal age, with maternal age controlled, seems consistent with the hypothesis proposed by Stene et al. (1977). It increased from 0.8 for fathers aged 20–24 years slowly up to 1.2 for those aged 45–49 years, though with an intermediate drop to 0.8 at the age of 40–44 years, and then sharply to 2.4 for those aged 55 years and over. This rising pattern of the relative incidence with paternal age was essentially the same for the patients born in 1952–1960 and for those born in 1961–1968, although the slope was less steep in the latter than in the former group.This paper is dedicated to Professor Heinrich Schade in honor of his 70th birthday     

A survey on maternal age and karyotype in Down's syndrome in Japan, 1947–1975

Summary Data on karyotype and maternal age of 1954 cases of Down's syndrome were analyzed to see if the rate of chromosome mutations leading to this abnormality has been enhanced during the last 20 years. Comparison of the data for patients born in 1947–1960 with those in 1961–1975 revealed little change with time in the proportions of cases due to different karyotypes, the overwhelming majority being of 21 trisomy type in both periods. However, there has been a remarkable decline in the mean maternal age from 33.1 years to 29.7 years as well as in the variance from 50.5 to 29.4. While the rate of decline in the variance was almost the same as that for all births occurring in the same periods, the decline in the mean maternal age was much greater for the patients than for all births, suggesting that the rate of nondisjunction might have increased in younger rather than in older mothers. However, when the risk of brearing a child with Down's syndrome for mothers aged 40–44 is taken as unity, no evidence was found for an increase with time in the relative risk for younger mothers. Moreover, results of surveys made in 1960 and thereafter in different parts of Japan indicate that the crude incidence rate of Down's syndrome at birth has been around 0.10%, giving no indication of an upward trend. These findings are discussed with reference to the serious environmental pollution, including possible genetic hazards, with which Japan has been faced since the 1960s.     

Long-term skeletal stability after maxillary advancement with distraction osteogenesis using a rigid external distraction device in cleft maxillary deformities

Rigid external distraction is a highly effective technique for correction of maxillary hypoplasia in patients with orofacial clefts. The clinical results after correction of sagittal maxillary deformities in both the adult and pediatric age groups have been stable. The purpose of this retrospective longitudinal cephalometric study was to review the long-term stability of the repositioned maxilla in cleft patients who underwent maxillary advancement with rigid external distraction. Between April 1, 1995, and April 1, 1999, 17 consecutive patients with cleft maxillary hypoplasia underwent maxillary advancement using rigid external distraction. There were 13 male patients and four female patients, with ages ranging from 5.2 to 23.6 years (mean, 12.6 years). After a modified complete high Le Fort I osteotomy and a latency period of 3 to 5 days, patients underwent maxillary advancement with rigid external distraction until proper facial convexity and dental overjet and overbite were obtained. After active distraction, a 3- to 4-week period of rigid retention was undertaken; this was followed by removable elastic retention for 6 to 8 weeks using, during sleep time, an orthodontic protraction face mask. Cephalometric radiographs were obtained preoperatively, after distraction, at 1 year after distraction, and 2 or more years after distraction. The mean follow-up was 3.3 years (minimum, 2.1 years; maximum, 5.3 years). The following measurements were obtained in each cephalogram: three linear horizontal and two linear vertical maxillary measurements, two angular craniomaxillary measurements, and one craniomandibular measurement. Differences between the preoperative and postoperative cephalometric values were analyzed by paired t tests (p < 0.05). The cephalometric analysis demonstrated postoperatively significant advancement of the maxilla. In addition, the mandibular plane angle opened 1.2 degrees after surgery. After the 1- to 3-year follow-up period, the maxilla was stable in the sagittal plane. Minimal anteroposterior growth was observed in the maxilla compared with that exhibited in the anterior cranial base. However, there was significant vertical maxillary growth over the 3-year observation period. The mandibular plane angle tended to decrease during the follow-up period. The cephalometric data from this study support the clinical impression of maxillary stability after maxillary advancement with rigid external distraction in cleft patients. This effective and stable technique is now considered for all pediatric patients with severe cleft maxillary hypoplasia and for adolescent and adult patients with moderate to severe deformities.     

Lymphocyte proliferation in Down's syndrome measured by sister chromatid differential staining

Summary Lymphocyte proliferation in PHA stimulated cultures from Down's syndrome patients and normals was measured by the BrdU/Giemsa method for demonstrating sister chromatid differential staining. Both Down's syndrome patients and normals had 1st, 2nd and 3rd divisions present. However, Down's syndrome patients had more 3rd division metaphases and fewer 2nd division metaphases than the normals. There was no difference in the mitotic index between the two groups.     

Lower eyelid blepharoplasty: analysis of indications and the treatment of 100 patients

Traditionally, lower lid blepharoplasty has been confined to a choice of skin or skin-muscle flap transcutaneous blepharoplasty. In the past decade, in particular, various new techniques and technologies have emerged, altering our ability to treat the lower eyelids. These techniques include transconjunctival blepharoplasty, a variety of canthopexy procedures, fat-conserving or fat-replacing methods, wedge excision, and laser resurfacing techniques, and they allow a more individualized approach based on variations in anatomical features and patient goals. A retrospective review of data for 100 consecutive patients (ranging in age from 30 to 80 years) who underwent lower eyelid procedures during a 12-month period is presented. Procedures were categorized as follows: lower lid blepharoplasty, 35 cases; lower lid transconjunctival blepharoplasty, 27 cases; lower lid transconjunctival blepharoplasty with laser resurfacing, 17 cases; lower lid laser resurfacing, 16 cases; tarsorrhaphy with lower lid operation, three cases; tarsorrhaphy with laser resurfacing, two cases. Two complications of retained fat pads (one medial and one lateral) were encountered and were addressed with a secondary operation using a transconjunctival blepharoplasty approach. The results indicate that laser treatment has become the predominant form of lower eyelid resurfacing and that transconjunctival blepharoplasty is now the most common surgical procedure for the lower eyelid. All of our tarsorrhaphy procedures were performed for patients who had previously undergone surgical treatment of the lower eyelids. An algorithm based on physical findings and these techniques has been developed, for appropriate tailoring of the procedure to each patient's specific concerns. With the availability of a variety of techniques, an individualized approach based on variations in anatomical features is feasible.     

Red blood cell glucose metabolism in Down's syndrome

The specific activity of red blood cell glycolytic enzymes was determined in 20 Down's syndrome patients and compared with 20 normal controls. According to previous evidence, a 50% increase of phosphofructokinase and a 30% increase of glucose-6-phosphate dehydrogenase and glutathione peroxidase activity was found. Metabolic studies of the patients' erythrocytes revealed a decrease in fructose-6-phosphate and 2, 3-diphosphoglycerate concentrations, while fructose-1, 6-diphosphate and ADP both increased. Glucose utilization by intact erythrocytes from Down's syndrome patients did not differ from that of normal controls. However, addition of methylene blue or inorganic phosphate produced a higher stimulation of erythrocyte glycolysis in patients with Down's syndrome compared to controls. These metabolic abnormalities could be, at least in part, ascribed to the increased phosphofructokinase activity which is due to a gene-dosage effect.     

Expanded applications for transconjunctival lower lid blepharoplasty.

There has been a recent upsurge in interest in the transconjunctival approach for lower lid blepharoplasty. Initial reports have focused on the young patient with isolated fat prominence. We describe our experience with transconjunctival lower lid blepharoplasty in 104 patients over the past 2 years. There have been no instances of prolonged lower lid retraction problems, presumably related to leaving the skin, orbicularis, and orbital septum intact. Our experience with expanding the indications for the transconjunctival approach to include patients with fine skin wrinkling as well as frank skin excess has been extremely favorable. We conclude that the skin excess is often more apparent than real, with the skin being necessary to recontour the lower eyelid after fat excision. Although skin excision may be required during the initial procedure or at a later stage, patients with apparent skin excess need not be excluded from consideration for transconjunctival lower lid blepharoplasty.     

Radiosensitivity of chromosomes in lymphocytes from Down's syndrome patients

A study was made of the yield of chromosome aberrations in gamma-irradiated G0 peripheral blood lymphocytes from 6 patients with different forms of Down's syndrome. The doses used were from 0.25 to 3.0 Gy. Seven healthy donors of different age made the control group. There was a significant increase in the yield of chromosome exchanges in lymphocytes from all the patients as compared to control. The spontaneous level of chromosome aberrations and the frequency of radiation-induced fragments did not differ from the control values. The yield of exchanges in diploid and trisomic cells from patients with the mosaic form of Down's syndrome did not change significantly as the time of cultivation was raised. The origin of DNA repair defects leading to the increased chromosome radiosensitivity in Down's syndrome is discussed.     

Enzymuntersuchungen im Serum von schwachsinnigen Anstaltspatienten

Summary A number of enzymes alkaline and acid phosphatase, lactic acid dehydrogenase, glutamic oxalacetate transaminase (GOT), aldolase, glucose-6-phosphat dehydrogenase (G-6-PD) in the serum of 81 patients with Langdon Down's syndrome and mental deficiency (idiocy) were investigated and then compared with a sample of 37 healthy persons. The enzyme activities were determined spectrophotometrically.Statistically significant differences of alkaline and acid phosphatase, lactic acid dehydrogenase, and glutamic oxalacetate transaminase were demonstrated between oligophrenic patients and healthy persons; there was a distinct increase in the serum of patients. The values for aldolase and glucose-6-phosphat dehydrogenase were equal both in the serum of patients and of controls. There was no significant difference between the values of adult oligophrenics on one side and adult patients with Down's syndrome on the other. Until further notice children with serious mental deficiency — oligophrenics of unknown genesis as well as patients with Down's syndrome — demonstrated no definite evidence of enzymologically deviations compared with those of the control group.

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(Direktor: Prof. Dr. med. H. Schade)

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Nach einem am 22. 10. 1967 auf der 10. Tagung der Gesellschaft für Anthropologie und Humangenetik gehaltenen Vortrag.     

Infracture technique for reduction malarplasty with a short preauricular incision

The infracture technique for reduction malarplasty has been widely used as an aesthetic surgical procedure in northeast Asia. Since 1988, the authors' original method of infracture technique was performed through the combined approach of intraoral and temporopreauricular incision, which may leave a rather long scar on the temporal region. To shorten the external scar, a new technique using a short preauricular incision instead of a long temporopreauricular incision was developed. From September of 2000 to June of 2001, this new approach was applied to 142 patients for correction of prominent zygoma. In this procedure, anteriorly, incomplete fracture of the zygomatic body was performed through an intraoral approach for bending inward. Posteriorly, full-thickness cutting of the zygomatic arch was performed through a preauricular incision. Then, lateral bulging of the zygomatic arch was reduced with infracturing, and the infractured site was fixed in a new position with a microplate and three screws. The advantages of this technique are reduction of the operation time, reduction of the length of the external scar, and reduction of postoperative edema around the operative region. With this combined approach, the authors were able to sufficiently expose the zygomatic arch and body and able to change the lateral convex arch into a concave one. Under direct vision, the authors could effectively and precisely perform the infracture technique through a much shorter preauricular incision that did not result in a long, conspicuous external scar.     

Laser blepharoplasty with transconjunctival orbicularis muscle/septum tightening and periocular skin resurfacing: a safe and advantageous technique

Carbon dioxide (CO2) laser blepharoplasty with orbicularis oculi muscle tightening and periorbital skin resurfacing is a safe procedure that produces excellent aesthetic results and diminishes the occurrence of complications associated with skin and muscle resection in the lower lid, particularly permanent scleral show and ectropion. The authors present a review of 196 cases of carbon dioxide laser blepharoplasty and periocular laser skin resurfacing performed at their center from April of 1994 to September of 1998. Of these cases, 113 patients underwent four-lid blepharoplasty, 59 underwent upper lid blepharoplasty only, and 24 underwent lower lid blepharoplasty only. Prophylactic lateral canthopexy was performed in 24 patients. Concomitant procedures (brow lift/rhytidectomy/rhinoplasty) were performed in 92 patients. The carbon dioxide laser blepharoplasty procedure resulted in no injuries to the globe, cornea, or eyelashes. Combined with laser tightening of the orbicularis oculi muscle and septum and periocular skin resurfacing, the transconjunctival approach to lower blepharoplasty preserves lower lid skin and muscle. Elimination of the traditional scalpel skin/muscle flap procedure results in a dramatically lower complication rate, particularly with regard to permanent ectropion and scleral show. Laser shrinkage of the orbicularis muscle and septum through the transconjunctival incision enables the correction of muscle aging changes such as orbicularis hypertrophy and malar festoons. The addition of periocular resurfacing enables the correction of skin aging changes of the eyelid that are not addressed by traditional scalpel blepharoplasty. In addition, lateral canthopexy constitutes an important adjunct to the laser blepharoplasty procedure for the correction of lower lid canthal laxity.     

The carbohydrate deposits detected by histochemical methods in the molecular layer of the dentate gyrus in the hippocampal formation of patients with schizophrenia, Down's syndrome and dementia, and aged person

Post-mortem brain tissue was obtained from 28 patients with brain disorders, of which 15 had clinically diagnosed schizophrenia, 6 Alzheimer type dementia, 5 dementia with tangles and 2 cases of Down's syndrome. The controls were 22 cases from autopsies without brain disorders or with no known episodes of brain disorder. The tissues were stained for the detection of carbohydrate deposits in the hippocampal formation, using lectin, immunohistochemical and conventional staining methods. The staining revealed the existence of spherical deposits in the inner and middle molecular layers of the dentate gyrus in the hippocampal formation which contained fucose, galactose, N-acetyl galactosamine, N-acetyl glucosamine, sialic acid, mannose and chondroitin sulfate. The number of the deposits was higher in patients with brain disorder such as schizophrenia, Alzheimer type dementia, dementia with tangles or Down's syndrome, and in some aged individuals, in comparison to those in younger individuals. No deposits were detected in a few younger or aged individuals. Spherical deposits 3–10[emsp4 ]m in diameter may be an immature form of the corpora amylacea, since they were similar in the histochemical characteristics with lectin, immunohistochemical and conventional staining methods. However, differing staining ability by hematoxylin, periodic acid Schiff's reagent and antibodies against the intracellular degraded proteins such as ubiquitin and tau-protein was observed. The antibodies against ubiquitin and tau-protein showed clear reactivity with the corpora amylacea and no reactivity with spherical deposits, indicating that the corpora amylacea has an intracellular origin and spherical deposits an extracellular matrix origin. The results obtained in this study indicate that not only neuronal degeneration but also unusual glycometabolism in neurons may disturb the neuronal function and cause brain disorders, and that spherical deposits may cause dysfunction of the neuronal network in the dentate gyrus of the hippocampus which is closely linked with recognition and memory functions.     

Proteomic evaluation of intermediary metabolism enzyme proteins in fetal Down's syndrome cerebral cortex

Trisomy 21 (Down's syndrome) is the most common genetic cause of human mental retardation. In Down's syndrome (DS) patients, deteriorated glucose, lipid, purine, folate and methionine/homocysteine metabolism has been reported. In our study, we used a proteomic approach to evaluate protein expression of enzyme proteins of intermediary metabolism in the brain of Down's syndrome fetuses. In fetal DS brain, we detected increased protein levels of mitochondrial aconitase as well as NADP-linked isocitrate dehydrogenase, decreased protein expression of citrate synthase and cytosolic aspartate aminotransferase. From two spots that corresponded to either pyruvate kinase M1 or M2 isozymes, significant elevation was observed only in one, while the second spot as well as the sum of the spots showed no differences between DS and controls. These results suggest derangement of intermediary metabolism during prenatal development of DS individuals.     

Serum lipid resistance to oxidation and uric acid levels in subjects with Down's syndrome

In subjects with Down's syndrome (DS) increased oxidative stress and consequent oxidative cell damage have been reported. The aim of this study was to assess whether the excessive production of free oxygen radicals in these subjects can affect the copper-induced lipid oxidation resistance measured in fresh whole serum. Since a significant elevation of serum uric acid levels, which is an efficient hydrophilic antioxidant, has been repeatedly reported in subjects with DS, we studied the association between increased serum uric acid levels and lipid resistance to oxidation measured directly in serum samples by monitoring the change in absorbance at 234 nm. The group of subjects with Down's syndrome consisted of 25 individuals (aged 18+/-5 years). Control group included brothers and sisters of subjects with DS (n = 25, aged 17+/-7 years). In subjects with DS, the serum lipid resistance to oxidation (lag time) was significantly higher than in controls (p<0.05) and a concomitant increase in serum uric acid levels was observed (p<0.001). A significant positive correlation between lag time and serum uric acid concentration was found in subjects with DS (r = 0.48, p<0.05), while the positive correlation in the control group was not significant. The results suggest that increased serum uric acid levels repeatedly observed in subjects with DS may be associated with an enhanced resistance of serum lipids to oxidation which is thought to play an important role in the atherogenic process.     

Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects

Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital heart defects and 21 without) and 37 unrelated volunteers. We found seven unusual genotypes in the parents of affected children with Down's syndrome, five being unique to the parents of children with trisomy 21 and CHD. There were no unusual genotypes associated with other chromosome 21 loci. No single COL6A1 genotype was associated with CHD. Thus, the unusual genotypes unique to parents of affected children suggest that genetic variation in the COL6A1 gene region contributes to the pathogenesis of CHD in Down's syndrome.     

Familial transmission of a (21q22q) translocation.

A large family is described in which a (21q22q) Robertsonian translocation is segregating through three generations. The assessment of the risk of a translocation carrier producing an offspring with Down's syndrome is calculated from the data in this family and eight others reported in the literature. The risk when the translocation carrier is a female is approximately 6 in 100, or 0.06. For the male translocation carrier the risk can only be guessed, since the patients with Down's syndrome born to these parents were probands. The risk for Down's syndrome from the combined data of male and female translocation carriers in 3 is 100, or 0.03.     

Relationship between dermatoglyphic variability and finger length in genetic disorders: Down's syndrome]

Palmar and digital dermatoglyphics were compared in Down's syndrome patients with that in a control sample from a population. All dermatoglyphic changes characteristic of Down's syndrome were confirmed. The ridge counts along digital midlines were significantly lower in Down patients as compared to control data, especially, in little fingers, which corresponds to finger shortening in Down's syndrome. The findings agree with a suggestion that digital growth in man could be controlled by morphogenetic gradients which may be altered in genetic disorders.