• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• Women's Health Nursing
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• v.5 no.1
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• pp.80-95
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• 1999

The purpose of this study was to investigate the characteristics of low birth-weight infants and their's mothers, and to identify the factors which influenced to delivery of L.B.W infants. The data derived from K. General Hospital and J. obs & gyn clinic in pusan from January, 1998 to August, 1998, which were from mothers of having B. W infants. The factors used for this study were characteristics of general, obstetrical, environmental aspects and physical and psychological life experiences during pregnancy. Analysis of data obtained were computerized statistically by using SPSS 7.5 WIN program. the data were analysed as number, frequency, percentage, t-test and ANOVA. The major results obtained of this study were as follows : 1) Gender that L.B.W infants were male in 47.2% and female in 52.8%, body weight of 2001~2500gm was above 8 in 68.5%, and below 5 in 1.8%. The L.B.W infants with complications were 7, which were 6.5%. The kinds of malformations were the Cleft palate & lip, Hyper-kalemia, Hypoglycemia, Meningocele, CHD, Down syndrome and each of them marked 0.9%. 2) In the general characteristics of pregnant women, the age group of 25~29 years was the most common as 46.3%. Over 35 years of age, elderly gravidas were in 7.5%. the height of 156~160cm was the most common as 52.8%. pregnant women of below 150cm height was in 3.7%. body weight of 51~55kg was the most common as 38%. pregnant women of below 45kg were in 19.4%. The women with smoking and drinking episodes during pregnancy were 1.9% and 25%. In the status of marriage, married women were in 95.4%, unmarried ones were in 1.9%, and unmarried couples were in 2.8%. Iin he obstetrical characteristics of pregnant women, pregnant women with gestational age under 37wks were in 45.4%, and the ones over 38wks were 54.6%. At the methods of delivery, normal spontaneous vaginal deliveries were in 51.9%, which were the most common, cesarian section deliveries were in 47.2%, and breech deliveries were in 0.9%. In the environmental characteristics of pregnant women, 40.8% of pregnant women lived in house or apartments with stairs, 23.1% of them lived in the high altitude. the pregnant women who ran a household without a helper were in 65.7%. In the pregnant women who had underwent life experiences of physical and psychological stress during pregnancy. life experiences of physical stresses were described as persistent fatigue due to lifestyle, traumatic experience, illness, move away with an effort, physical impact caused by discord. life experiments of psychological stresses were describeded as trouble with their husbands, discord with one's husband family, family problems, and conflicts due to environmental factors, etc. The number of the pregnant women who had complications during pregnancy was 32, which was 29.6% totally. Among them, pre-eclampsia was in 12.1% and the premature rupture of membrane in 7.4%. 3) In the analysis of the general, obstetrical, and circumstantial characteristics and L.B.W infants. There were statistical difference significantly between the gestational age of pregnant women(F=12.035, P=.000), and the status of marriage(F=3.207, P=.044), and maternal complication(t=2.344, P=.021) etc.

• Korean Journal of Veterinary Research
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• v.31 no.4
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• pp.411-418
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• 1991

This study was carried out to investigate the amino acid and protein concentrations in amniotic fluid and the potency of the teratogenic effect of ethylenethiourea(2-imidazolidinethione, ETU) in the fetuses due to different dose amounts of this compound. The S.P.F. Sprague-Dawley female rats(10 weeks) were used in this study and these animals were divided into four groups; control group(25pregnant female rats), group I (dosed ETU from day 7 to day 17 of gestation at 10mg/kg/day), group II (dosed ETU from day 7 to day 17 of gestation at 30mg/kg/day), group III (dosed ETU from day 7 to day 17 of gestation at 50mg/kg/ day). 250mg/100mg ETU in group I, 750mg/100ml ETU in group II and 1,250mg/100ml ETU in group III were administered 4ml/kg 13.W by oral route. The results obtained were summarized as follows; 1. The anomalies of the external examination werf meningocele in the head, kinky tail, clubfoot and sharp tail.(Meningocele, in group III, significantly increased from control value at p<0.001). 2. The skeletal variations and delayed ossification were Lumbar ribs, asymmetric sternebrae, asymmetric 13th rib and delayed ossification of skull. Asymmetric sternebrae(group III ) was significantly increased from control value at p<0.05 and delayed ossification of skull (group II and III ) were significantly increased from control value at p<0.05 and p<0.01, respectively. 3. The internal soft tissue anomalies were hydroencephaly of 3th lateral ventricle, dilatation of ureter, dilatation of renal pelvis and cleft palate. (Hydroencephaly, 28.1% in group I, 88.3% in group II and 100% in group III ). 4. Protein values in amniotic fluids are not significantly decreased in 10mg/kg group but significantly(p<0.05) decreased in 30mg/kg group and 50mg/kg group from control group. 5. In the levels of amino acid in amniotic fluids, the levels of glntamic acid, iso-lencine, leucine, tyrosine and phenylalanine of 10mg/kg group are significantly decreased from control group. In 50mg/kg group, except for glycine, valine and methionine, all amino acid levels are significantly(p<0.05) decreased from control group.

• Journal of Chest Surgery
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• v.42 no.5
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• pp.639-644
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• 2009

Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-$\beta$ receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.1
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• pp.36-40
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• 2018

CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.

• Archives of Craniofacial Surgery
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• v.13 no.2
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• pp.111-118
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• 2012

Purpose: The nasal bone fracture is known as the most common facial fracture, with the postoperative results and the patient's satisfaction known to be lower than other facial fractures. The patient's satisfaction is firstly related to the accurate comprehension of the spatial relationship in the fractured nasal bone and secondly to the accurate reduction based on accurate comprehension. The aim of this study is to evaluate the objective usefulness of the three-dimensional (3D) imaging. Methods: The survey was conducted on 10 randomly selected cases of nasal bone fractures among the 46 cases with 3D computed tomography (CT) during the past one year. It was requested upon 4 plastic residents and 4 plastic surgeons to draw 3D aspect of fractured nasal bone directly on the printed photos of cadaver nasal bone, based on simple X-ray and two-dimensional (2D) CT. They were compared with the real fractured nasal bone aspects based on the 3D image and marked the difference in the 10-point scale of 0 to 10. Results: The average score of the 4 residents was 1.62 and that of the 4 surgeons was 4.47 out of 10 by simple X-ray. The average score of the 4 residents was 5.67 and that of the 4 surgeons was 7.25 out of 10 by 2D CT. Conclusion: It was surmised that the precise analysis and accurate comprehension of the spatial relationship of the fractured nasal bone using the 3D image, as based on the 2D CT images, can produce more favorable satisfaction levels in the patients.

• Archives of Craniofacial Surgery
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• v.13 no.2
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• pp.85-94
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• 2012

The world's first face transplantation was performed in France, in 2005. Since then, 21 cases of face transplantation have been performed. Face transplantation is one of the most prominent part of composite tissue allotransplantation (CTA) along with hand transplantation. Since these fields are not deal with life-saving organs, there are many arguments about immunosuppression therapy. Recent paradigm of face transplantation shows that surgical ranges are expanded from partial face transplantation to full face transplantation. Most immunosuppression protocols are triple therapy, which consists of tacrolimus (FK-506), mycophenolate mofetil and prednisolone. Anatomical researches, immunosuppression, and immunotolerance take great parts in the researches of CTA. The medical fields directly related to face transplantation are microsurgery, immunology, and transplantation. Nowadays, each field is performed widely. Therefore people, even medical teams think face transplantation could be easily realized, sooner or later. But there are lots of things that should be prepared for not only practice and immunosuppression therapy but also for the cooperation with relevant fields. That's the reason why only 21 cases of face transplantation have been done, while more than 70 cases of hand transplantation have been done in the past years. Especially in Korea, brain death patients are not enough even for organ transplantation and furthermore there are some troubles in taking part in the society of transplantation. Face transplantation has lots of problems concerning variable medical fields, administration, society, ethics, and laws. Therefore, for the realization of face transplantation in Korea, not only medical skills but also political powers are needed.

• Archives of Craniofacial Surgery
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• v.21 no.5
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• pp.276-282
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• 2020

Background: Orbital fractures are the most common pediatric facial fractures. Treatment is conservative due to the anatomical differences that make children more resilient to severe displacement or orbital volume change than adults. Although rarely, extensive fractures may result in enophthalmos, causing cosmetic problems. We aimed to establish criteria for extensive fractures that may result in enophthalmos. Methods: We retrospectively reviewed the charts of patients aged 0-15 years diagnosed with orbital fractures in our hospital from January 2010 to February 2019. Computed tomography images were used to classify the fractures into linear, trapdoor, and open-door types, and to estimate the defect size. Data on enophthalmos severity (Hertel exophthalmometry results) and fracture pattern and size at the time of injury were obtained from patients who did not undergo surgery during the follow-up and were used to identify the surgical indications for pediatric orbital fractures. Results: A total of 305 pediatric patients with pure orbital fractures were included-257 males (84.3%), 48 females (15.7%); mean age, 12.01±2.99 years. The defect size (p=0.002) and fracture type (p=0.017) were identified as the variables affecting the enophthalmometric difference between the eyes of non-operated patients. In the linear regression analysis, the variable affecting the fracture size was open-door type fracture (p<0.001). Pearson's correlation analysis demonstrated a positive correlation between the enophthalmometric difference and the bony defect size (p=0.003). Using receiver operating characteristic curve analysis, a cutoff value of 1.81 ㎠ was obtained (sensitivity, 0.543; specificity, 0.724; p=0.002). Conclusion: The incidence of enophthalmos in pediatric pure orbital fractures was found to increase with fracture size, with an even higher incidence when open-door type fracture was a cofactor. In clinical settings, pediatric orbital fractures larger than 1.81 ㎠ may be considered as extensive fractures that can result in enophthalmos and consequent cosmetic problems.

• Archives of Craniofacial Surgery
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• v.21 no.5
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• pp.288-293
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• 2020

Background: Pilomatrixoma is a benign tumor that originates from the hair follicle matrix. It usually presents as a hard, slow growing, solitary mass that can be easily misdiagnosed as other skin masses. The aim of this study was to clinically analyze a case series of pilomatrixoma in pediatric patients from Korea. Methods: A total of 165 pediatric patients from 2011 to 2018 with a histological diagnosis of pilomatrixoma were included. A retrospective review was performed using the electronic medical records, including patient demographics, number and location of the mass, clinical and imaging presentation, and postoperative outcomes. Results: There were 61 male and 104 female patients with 152 solitary and 13 multiple pilomatrixomas. Among solitary pilomatrixomas, the lesion commonly occurred in the head and neck (84.2%), followed by upper limbs (11.2%), lower limbs (3.3%), and trunk (1.3%). The pilomatrixoma lesion presented as the following types based on our clinical classification: mass (56.02%), pigmentation (25.31%), mixed (12.65%), ulceration (4.82%), and keloid-like (1.2%). Ultrasonography showed a high positive predictive value (95.56%). There were no specific complications observed except for two cases of recurrence. Conclusion: Pilomatrixoma has various clinical feature presentations and commonly occurs in the head and neck. Ultrasonography is a helpful diagnostic tool. Surgical removal of the lesion is the main treatment method with a low recurrence rate.

• Journal of The Korean Dental Society of Anesthesiology
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• v.13 no.1
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• pp.13-18
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• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.