• Journal of Genetic Medicine
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• v.6 no.1
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• pp.67-73
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• 2009

Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Archives of Reconstructive Microsurgery
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• v.9 no.1
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• pp.1-5
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• 2000

The microsurgical reconstruction is necessary for elderly patients to treat severe trauma and head and neck tumor. The aim of this study is to analyze the risks of microvascular surgery and whether or not happening of more complication in elderly patients who are older than 60 years old and to suggest the solution of the complication. The retrospective study included 41 elderly patients who underwent treatment of 44 microsurgical reconstructions among total 271 cases of microsurgical reconstruction from July, 1988 to December, 1998. Their ages ranged from 61 years to 79 years. There were 26 males and 15 females. The involved sites were 23 head and necks, 13 upper gastrointestinal tracts, 3 lower extremities, 1 chest and 1 sacral region. The causes of microsurgical reconstruction were 36 head and neck tumors, 2 radionecrosis, 2 traumas and 1 melanoma in lower limb. The used flaps were 14 radial forearm flaps, 13 jejunal flaps, 10 latissimus dorsi muscle flaps, 3 rectus abdominis muscle flaps, 2 lateral arm flaps, 1 scapular flap, and 1 iliac osteocutaneous flap. They had medical problems which were 29 tobacco abuse, 14 hypertensions, 13 alcohol abuse, 10 chronic obstructive pulmonary diseases, 7 diabetes mellituses, 3 ischemic heart diseases. All patients have had successful results without specific complications except 3 cases of free flap failure and 3 perioperative death. The causes of 3 flap failures were 2 flap necrosis due to arterial insufficiency and 1 flap loss due to secondary infection. All of these cases were treated with secondary free flap surgery. However 3 patients died perioperatively due to 2 respiratory arrests and 1 sepsis. It was not related to operate microsurgical reconstruction itself, but was correlated with the complication of postoperative care after head and neck surgery. We conclude that plastic surgeons consider the importance of prevention of expected complication as thorough analysis of operative risk factor and appropriate treatment. We had to select the donor and recipient vessel appropriately to perform successful microsurgery in elderly patients and consider vein graft and end-to-side anastomosis to reduce complication if necessary. In addition, we emphasize the importance of pre, peri and postoperative care in head and neck cancer patients to reduce postoperative complication and morbidity.

• Journal of agricultural medicine and community health
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• v.8 no.1
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• pp.12-18
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• 1983

This study was carried out in identify the accidents of the residents in the rural community for a year from January to December in 1980 in the area of Bugae Myun, Gunwee Gun, Kyungpook province in Korea. The annual incidence was 3.9% and there was significant difference between sexes(p < 0.01) ; 5.5% in male, 2.3% in female. The age group of 50-59 showed the highest incidence as 5.7%. In summer the incidence was the highest as 37.5% and in winter, the lowest as 18.7%. Farming tool was the most frequent cause of accident as 44.3% and followed by insecticide and bite of snake and dog, etc. Hands and fingers were the most frequent injured parts as 33.0% and upper extremities(40.3%) were twice as high as the lower ones(20.5%). By kinds of injuries, laceration was highest as 33.0% and followed by contusion(24.4%) and abrasion(15.9%). Average duration of treatment was 6.1 days and most of the cases(85.2%) were within 10 days. Average duration of labor loss was 8 days and 84.6% of the total were less than 10 days. Twenty-six cases had some parts of their bodies lost due to accidents and five cases died from drownina and poisoning.

• Tuberculosis and Respiratory Diseases
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• v.57 no.6
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• pp.594-598
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• 2004

Signet ring cell carcinoma of lung is an unique variant of mucin producing adenocarcinoma which is characterized by abundant intracellular mucin accumulation. Only a few cases of primary signet ring cell carcinoma of lung have been reported in the world wide literature. And we have, recently experienced one case of primary signet ring cell carcinoma of lung. A 55 years old man was evaluated for paralysis of lower extremities and was found to have lung cancer in the left upper and lower lobe with pleural, multiple spinal, bone and liver metastases. Signet ring tumor cells were revealed by cytologic examination of pleural fluids. And there were no evidence of signet ring cell carcinoma of other organs. Primary signet ring cell carcinoma of lung seems to have an aggressive behavior and therapeutic modalities could be different from those for signet ring cell carcinomas from other organs. Therefore it is important to separate primary signet ring cell adenocarcinoma of lung from metastatic tumors.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.sup3
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• pp.81-85
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• 2016

Globally, the burden of breast cancer (BC) continues to increase. BC related lymphedema (BCRL) is currently non curable and as a life time risk it affects at least 25% of BC patients. Knowing more about BCRL and appropriate control of its modifiable risk factors can improve quality of life (QOL) of the affected patients. In this case control study to detect factors, 400 women with BCRL (as the case group) and 283 patients with BC without lymphedema (as the control group) that were referred to Shiraz University of Medical Sciences affiliated BC clinic center were assessed. The data were analyzed in SPSS. The mean age of the case group was $52.3{\pm}11.0years$ and of the control group was $50.1{\pm}10.9years$. In patients with BCRL, 203(50.7%) had left (Lt) side BC and in non- lymphedema group 151 (53.3%) had Lt side BC. Out of all BCRL patients, 204 (51%) had lymphedema in all parts of their affected upper extremities, 100 (25%) had swelling in the arm and forearm and 23 (5.7%) had edema in both the upper extremity and trunk. Edema, heaviness, concern about changing body image, pain and paresthesia were the most common signs/symptoms among patients with BCRL. In BCRL patients, the difference of circumference between the affected upper limb and non-affected limb was $4.4{\pm}2.5cm$ and the difference in volume displacement was $528.7{\pm}374.4milliliters$. Multiple variable analysis showed that moderate to severe activity (OR; odds ratio =14, 95% CI :2.6-73.3), invasiveness of BC (OR =13.7, 95% CI :7.3-25.6), modified radical mastectomy (OR=4.3, 95% CI :2.3-7.9), BMI =>25 (OR=4.2, 95% CI :2-8.7), radiotherapy (OR=3.9, 95% CI :1.8-8.2), past history of limb damage (OR=1.7, 95% CI :0.9-3.1) and the number of excised lymph nodes (OR=1.06, 95% CI :1.02-1.09) were the significant predictors of lymphedema in women with BC. Modifiable risk factors of BCRL such as non-guided moderate to severe physical activity, high BMI and trauma to the limb should be controlled as early as possible in BC patients to prevent development of BCRL and improve QOL of these patients.

• The Journal of Korean Medicine
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• v.15 no.2 s.28
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• pp.28-39
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• 1994

Clinical studies were made on 79 cases with thalamic hemorrhage diagnosed by computed tomographic scan and only localized on the thalamic area, were admitted to the Kyung San University Taegu Oriental Medical Hospital from August 1990 to March 1994. The age and sex distribution, sites of hematoma, recurrence rate, incidence of hypertension, inducing factor, prodromal syndroms, symptoms and neurologic signs on admission, relationship between the hospital course and many factors affecting the prognosis such as age, side of hematoma, level of consciousness, volume of the hematoma. ventricular hemorrhage were analysed. The results were summarized as follows; 1. The most prevalent age group was above 60 years of age with 50-59 years, 70-79 years, 40-49 years and 80-89 years of age in the order of frequency. Male to female ratio was 1:1.55. 2. The ratio of left hematoma to the right was 1.32:1. The recurrence rate of cerebrovascular accident was 17.7% 3. The incidence of hypertension was 69.6% and inducing factors of thalamic hemorrhage in the order of frequency were physical work(29.1%), drinking or eating(13.9%), walking(12.7%) and rest(12.7%), The prodromal syndroms were numbness of extremities(5.1%), headache(2.5%), fatigue(2.5%), dizziness(1.3%), insomnia(1.3%), but prodromal syndrom was not found in 89.9% of thalamic hemorrhage. 4. The symptoms and neurologic signs on admission in the order of frequency were motor disturbance(98.7%), dysarthria(82.3%), positive Babinski sign(78.5%), headache(69.6%), dizziness(62.0%). hemisensory deficit(48.1%). nausea or vomiting(39.2%), absent or sluggish light reflex(35.4%), changes of consciousness (35.4%), dysphagia (20.3%), voiding difficulty.(13.9%), facial palsy(6.3%), aphasia(3.8%), seizure(38%), 6th N. palsy(3.8%) and small pupil(1.3%). 5. The rate of improvement was found almost equally in the 4th, 5th and 6th decades, but it was shown with dramatic decrease in the over 7th decades. The hospital course had no relationship with the side of hematoma but the level of consciousness had influence upon the prognosis. 6, The small hematoma had better outcome than large in the volume of hematoma under 15cc, but volume of the hematoma had no influence upon the prognosis because the rate of improvement was 75.0% in the volume of hematoma over 15cc. The hospital course had no relationship with ventricular hemorrhage.

• Journal of Korean Medical classics
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• v.19 no.2 s.33
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• pp.138-162
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• 2006

'On the Morbid Pulse of Abdominal Fullness, Cold Mounting, and Abiding Food' in the Chapter 10 of Synopsis of Golden Chamber that enunciates Abdominal Fullness, Cold Mounting, and Abiding Food is related to the stomach and intestines respectively, and is similar to the region and symptom of disease in the light of both abdominal fullness and symptoms of pain. This chapter was united into one because the formula mentioned in this chapter can be applied to three disease patterns. Abdominal fullness shows the symptoms of distention and unease, but judging from the text as well as a specific formula and symptoms, it follows pain. Accordingly Abdominal fullness dealt with in this chapter is the first consideration and it is a kind of a disease pattern attendant on abdominal pain. Cold Mounting does not mean mounting gi disease but means the abdominal pain. The cause of cold mounting is mainly due to insufficiency of yang gi and oversufficiency of cold evil. And the main symptoms of cold mounting follow the severe pain around the naval and sweating, cold of the extremities, pulse deep and tight. Abiding food is of the same meaning such as damage of food today. Abiding food is now referred to as damage of food. Principles which have set forth in this chapter are put to use of the method of ejection in case that abiding food places in the upper part, precipitation in the lower part. The symptoms of abiding food show that the pulse is slight and slippery and the wrist pulse is both superficial and large and rough in applying the pressure, and the cubit pulse is also slight and superficial as well, and that have diarrhea and have little appetite.

• The Korean Journal of Pain
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• v.19 no.2
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• pp.181-186
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• 2006

Background: Although cervical epidural block can be a useful therapeutic treatment for head, neck and upper extremities pain, there is no consensus regarding the volume of injection required for pain management. Herein, the spreading in the vertebral segments after a cervical epidural injection of either a 5 or 10 ml volume was studied. Methods: A total of 78 patients, suffering from head, neck and upper extremity pain, were selected. Cervical epidural blocks were performed consecutively with 5 ml (n = 42) and 10 ml (n = 36) of 0.4% mepivacaine and 222 mg I/ml iopamidol at the C7⁣-T1 levels. Both anteroposterior (AP) and lateral radiographs were obtained under fluoroscopy, and the upper and lower epidural spreading of the contrast media in relation to the vertebral level was evaluated. Results: The cervical epidural blocks were performed without complications. The rostral spreading of the contrast media in the vertebral segments in groups 1 and 2 were $5.6{\pm}1.1$ and $6.1{\pm}1.1$, respectively. The caudal spreading of the contrast media in the vertebral segments in groups 1 and 2 were $5.4{\pm}3.4$ and $7.2{\pm}3.9$, respectively. The total numbers of segments with vertebral spreading of the contrast media in both directions showed significant differences between the two groups. The numbers of patients who showed spreading of the contrast media up to C2 vertebral segment showed no significant differences between the two groups. Conclusions: 5 and 10 ml epidural injection volumes may be adequate for the spread of contrast media to the entire cervical spine. A 5 ml epidural injection volume, compared to a 10 ml volume, may be ample when considering the possibility of unnecessary caudal spreading of drugs and volume related complications in the management of head, neck and upper extremity pain.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.209-212
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• 2007

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of early infancy, and is characterized by periorificial dermatitis, alopecia, and intractable diarrhea. Serum zinc levels are usually low in untreated patients and the oral administration of zinc sulfate can clear skin lesions and other symptoms. Although premature and cow's milk-fed infants are at particular risk of developing AE, there have been a few reports about AE in term and breast-fed infants. We report a case of transient AE in a 4-month-old breast-fed infant. This patient suffered from diarrhea and dermatitis for more than a month. Her skin lesions were erythematous, scaly, crusted, psoriasiform, eczematous, with an eruption at the chin, and a periorificial disposition with involvement of the flexural areas of lower extremities. Her serum zinc level was almost normal at $129{\mu}g/dL$ (reference range: $60-121{\mu}g/dL$), but the zinc level in her hair was low: 8 mg percent (reference range: 10-21 mg percent). Skin biopsy findings were consistent with AE. Seven days after zinc supplementation, the skin lesions and diarrhea improved. The authors recommend that a clinical trial of zinc supplementation be considered in cases where there are suspicious of AE, even when the serum zinc level is normal.