1.A Case of Prader-Willi Syndrome with Microdeletion of Chromosome 15 q11-q13 Confirmed by FISH.
Ji Heon JANG ; Jee Yeon SONG ; Byung Kyu SUH ; Won Bae LEE ; Byung Churl LEE
Journal of Korean Society of Pediatric Endocrinology 1997;2(1):145-152
Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
Adolescent
;
Chromosomes, Human, Pair 15*
;
Diabetes Mellitus
;
Diagnosis
;
DNA
;
Eating
;
Fluorescence
;
Humans
;
Hypogonadism
;
Intellectual Disability
;
Male
;
Muscle Hypotonia
;
Obesity
;
Prader-Willi Syndrome*
;
Uniparental Disomy
2.Erosion of an Inflatable Penile Prosthesis Reservoir into the Bladder, Presenting Bladder Calculi .
Ju Heon YANG ; Ji Sung PARK ; Hyeuk Jun JANG ; Byung Hwa LEE
Korean Journal of Urology 2004;45(10):1077-1079
Complications of penile prosthesis include malfunction, infection and patient dissatisfaction. Herein, a rare complication of a retained reservoir having eroded into the bladder after the removal of the penile components of a three-piece penile prosthesis, is reported. A 39-year-old man complained of irritative voiding symptoms. The symptoms had developed 4 years after the removal of the penile components of the prosthesis. The erosion of the reservoir into the bladder was discovered incidentally during the treatment of bladder calculi. The reservoir was removed by an open vesicolithotomy.
Adult
;
Calculi
;
Cytochrome P-450 CYP1A1
;
Humans
;
Penile Prosthesis*
;
Prostheses and Implants
;
Urinary Bladder Calculi*
;
Urinary Bladder*
3.Parameatal Urethral Cyst in Adult: Should be Excised
Woo Heon CHA ; Tae Jung JANG ; Ji Yong HA
Keimyung Medical Journal 2023;42(1):62-65
The formation of cysts in the parameatal area has been reported as rare. A parameatal urethral cyst is a congenital anomaly and has been reported even more rarely in adults. In this study, we present two cases of parameatal urethral cyst and aim to investigate their causes and treatment methods. The extent of cyst spread was assessed using a urethroscope prior to cyst excision, and the excision range was determined accordingly. Complete excision of the cyst was performed as the treatment for parameatal urethral cyst. Both patients were adults who presented with urinary symptoms related to the cyst, necessitating the excision of the congenital parameatal urethral cyst.
4.Syringocystadenoma Papilliferum in the Medial Canthus of an Eyelid
Ji Heon LEE ; Young Min PARK ; Mi JANG ; Hye Young KIM
Journal of the Korean Ophthalmological Society 2024;65(10):683-686
Purpose:
To report a rare case of syringocystadenoma papilliferum occurring in the medial canthal area.Case summary: A 74-year-old female presented with a growing mass on the nasal side of the right eye for the past 3 months. The mass, measuring approximately 5.0 mm in central diameter, was located on the inner aspect of the right eyelid and was ulcerated. An excisional biopsy was performed, and the histopathological examination revealed a lesion characterized by exophytic squamous epithelial hyperplasia with central invagination forming a crater-like structure. The lesion had a bilayer configuration, with cuboidal basal cells in the periphery and columnar luminal cells on the inside. These findings were consistent with the diagnosis of syringocystadenoma papilliferum.
Conclusions
Syringocystadenoma papilliferum was diagnosed in an eyelid mass, emphasizing the need to consider this condition in the differential diagnosis of eyelid masses given the diverse clinical manifestations associated with syringocystadenoma papilliferum.
5.Syringocystadenoma Papilliferum in the Medial Canthus of an Eyelid
Ji Heon LEE ; Young Min PARK ; Mi JANG ; Hye Young KIM
Journal of the Korean Ophthalmological Society 2024;65(10):683-686
Purpose:
To report a rare case of syringocystadenoma papilliferum occurring in the medial canthal area.Case summary: A 74-year-old female presented with a growing mass on the nasal side of the right eye for the past 3 months. The mass, measuring approximately 5.0 mm in central diameter, was located on the inner aspect of the right eyelid and was ulcerated. An excisional biopsy was performed, and the histopathological examination revealed a lesion characterized by exophytic squamous epithelial hyperplasia with central invagination forming a crater-like structure. The lesion had a bilayer configuration, with cuboidal basal cells in the periphery and columnar luminal cells on the inside. These findings were consistent with the diagnosis of syringocystadenoma papilliferum.
Conclusions
Syringocystadenoma papilliferum was diagnosed in an eyelid mass, emphasizing the need to consider this condition in the differential diagnosis of eyelid masses given the diverse clinical manifestations associated with syringocystadenoma papilliferum.
6.Syringocystadenoma Papilliferum in the Medial Canthus of an Eyelid
Ji Heon LEE ; Young Min PARK ; Mi JANG ; Hye Young KIM
Journal of the Korean Ophthalmological Society 2024;65(10):683-686
Purpose:
To report a rare case of syringocystadenoma papilliferum occurring in the medial canthal area.Case summary: A 74-year-old female presented with a growing mass on the nasal side of the right eye for the past 3 months. The mass, measuring approximately 5.0 mm in central diameter, was located on the inner aspect of the right eyelid and was ulcerated. An excisional biopsy was performed, and the histopathological examination revealed a lesion characterized by exophytic squamous epithelial hyperplasia with central invagination forming a crater-like structure. The lesion had a bilayer configuration, with cuboidal basal cells in the periphery and columnar luminal cells on the inside. These findings were consistent with the diagnosis of syringocystadenoma papilliferum.
Conclusions
Syringocystadenoma papilliferum was diagnosed in an eyelid mass, emphasizing the need to consider this condition in the differential diagnosis of eyelid masses given the diverse clinical manifestations associated with syringocystadenoma papilliferum.
7.Syringocystadenoma Papilliferum in the Medial Canthus of an Eyelid
Ji Heon LEE ; Young Min PARK ; Mi JANG ; Hye Young KIM
Journal of the Korean Ophthalmological Society 2024;65(10):683-686
Purpose:
To report a rare case of syringocystadenoma papilliferum occurring in the medial canthal area.Case summary: A 74-year-old female presented with a growing mass on the nasal side of the right eye for the past 3 months. The mass, measuring approximately 5.0 mm in central diameter, was located on the inner aspect of the right eyelid and was ulcerated. An excisional biopsy was performed, and the histopathological examination revealed a lesion characterized by exophytic squamous epithelial hyperplasia with central invagination forming a crater-like structure. The lesion had a bilayer configuration, with cuboidal basal cells in the periphery and columnar luminal cells on the inside. These findings were consistent with the diagnosis of syringocystadenoma papilliferum.
Conclusions
Syringocystadenoma papilliferum was diagnosed in an eyelid mass, emphasizing the need to consider this condition in the differential diagnosis of eyelid masses given the diverse clinical manifestations associated with syringocystadenoma papilliferum.
8.Removal of a Piercing Bar in the Mouth floor by Fluoroscopy: Report of a Case.
Jae Won KIM ; Ji Young JANG ; Heon Soo JANG ; Duwon CHA ; Sang Heum BAEK
Journal of the Korean Association of Oral and Maxillofacial Surgeons 2008;34(2):196-199
The piercing is increasing in western culture, and has also become gradually popular among Korean teenagers recently However, the accident happens sometimes such as loss of a bar into the tongue or mouth floor during the procedure. Because of the rare cases, few treatment of choices can be made when a bar is lost inside the mouth floor. In this case, the bar was removed under fluoroscope, without giving significant damage to the adjacent structure. 18 years old female patient visited the emergency room in our hospital. She attempted to pierce her tongue herself and could not find the bar which was lost in the mouth floor. The radiographs revealed that the needle was somewhere inside the mouth floor, but if incision were to be made it would be too deep to find the bar. The bar was reomoved through fluoroscope easily. Primary closure was done by 5-0 Vicryl and stitch-off was done 1 week later. The patient didn't have any speech problems and complications.
Adolescent
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Emergencies
;
Female
;
Fluoroscopy
;
Humans
;
Mouth
;
Mouth Floor
;
Needles
;
Polyglactin 910
;
Tongue
9.Removal of a Piercing Bar in the Mouth floor by Fluoroscopy: Report of a Case.
Jae Won KIM ; Ji Young JANG ; Heon Soo JANG ; Duwon CHA ; Sang Heum BAEK
Journal of the Korean Association of Oral and Maxillofacial Surgeons 2008;34(2):196-199
The piercing is increasing in western culture, and has also become gradually popular among Korean teenagers recently However, the accident happens sometimes such as loss of a bar into the tongue or mouth floor during the procedure. Because of the rare cases, few treatment of choices can be made when a bar is lost inside the mouth floor. In this case, the bar was removed under fluoroscope, without giving significant damage to the adjacent structure. 18 years old female patient visited the emergency room in our hospital. She attempted to pierce her tongue herself and could not find the bar which was lost in the mouth floor. The radiographs revealed that the needle was somewhere inside the mouth floor, but if incision were to be made it would be too deep to find the bar. The bar was reomoved through fluoroscope easily. Primary closure was done by 5-0 Vicryl and stitch-off was done 1 week later. The patient didn't have any speech problems and complications.
Adolescent
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Emergencies
;
Female
;
Fluoroscopy
;
Humans
;
Mouth
;
Mouth Floor
;
Needles
;
Polyglactin 910
;
Tongue
10.Surgical Treatment of Metastatic Spinal Tumor.
Ji Soo JANG ; Jin Kuk KIM ; Woo Min PARK ; Yoo HEON ; Chang Hoon RHEE ; Seung Hoon LEE
Journal of Korean Neurosurgical Society 1999;28(10):1491-1497
The authors present a series of 35 patients who underwent operation for metastatic spinal tumor. Patients were operated via anterior, posterior or posterolateral and combined anterior-posterior approach. The anterior approach was used in cases where there was no involvement of the posterior column, tolerable of a thoracotomy and involvement of three or less adjacent vertebral bodies. The posterior or posterolateral approach was used in cases with involvement of the posterior column, disease at two seperated locations, intolerable of a thoracotomy and involvement of three columns. The combined anterior-posterior approach was used when it was not enough to obtain stabilization with anterior or posterior approach alone and expected greater than 1 year life expectancy. Twenty-five(89%) of the 28 patients improved neurologically following surgery. Average neurologic improvement was 1.3 Frankel grade. Pain relief was obtained in twenty-six(93%) of the 28 patients. Recovery of spincter change was obtained twelve(80%) of the 15 patients. Two patients died postoperatively due to DIC and pneumonia. Prior to operation, selective spinal angiography and embolization were performed in nine patients with metastases from renal carcinoma, thyroid cancer and hepatoma to reduce intraoperative bleeding. The authors believe that the choice of surgical approach has to be individualized for each patient depending on extent and location of the tumor, general condition of patient, goal of therapy and life expectancy.
Angiography
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Carcinoma, Hepatocellular
;
Dacarbazine
;
Hemorrhage
;
Humans
;
Life Expectancy
;
Neoplasm Metastasis
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Pneumonia
;
Thoracotomy
;
Thyroid Neoplasms