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

OBJECTIVE: The authors evaluate the differences in the pedicle screw pull-out strength between an unaugmented screw and a screw augmented by high pressurized PMMA in an embalmed human lumbar cadaveric spine. METHODS: Pedicle screws were inserted in the 50 pedicles of cadaver lumbar spine after measuring the bone mineral density(BMD) of the specimens. The pedicle screw was inserted without augmentation on the left pedicle and with augmentation by a vertebral reconstruction with high pressurized PMMA on the right side. The pedicle screw was inserted before the hardening of bone cement on the right side. A computed tomographic scan was done to evaluate the location of the PMMA and PMMA/ screw interface. After that, a screw pullout strength test was performed. RESULTS: There were positive correlations between the pull-out strength and BMD in the control group (r=0.7339). The average pull-out strength of the augmented group was 168% greater than that of the control group(p<0.05). The pull-out strength of the augmented group was correlated with in the volume of the PMMA. CONCLUSION: A pedicle screw that is augmented with PMMA will provide a more rigid fixation than that of an unaugmented screw, especially in the low BMD group of the specimens.
Cadaver* ; Humans ; Polymethyl Methacrylate ; Spine

Incarceration of the gravid uterus is a rare but serious complication of pregnancy. Reported is the case of a gravid 2, para 0, abortus 1 with known uterine subserosal myoma(5.3 x5.5cm sized) 26-year-old woman presented with acute dysuria and urinary retention. The patient was 14 weeks and 3 days pregnant and presented several week history of urinary frequency and sensation of incomplete bladder emptying. Examination revealed a retroflexed uterus with cervical opening pointing toward the anterior abdominal wall. An ultrasound revealed a thin, elongated maternal bladder and a uterus incarcerated between the sacral promontary and the pubis. The incarceration was successfully reduced by tenaculum traction of the cervical posterior lip without surgical intervention and had a normal infant of appropriate weight at term.
Abdominal Wall ; Adult ; Dysuria ; Female ; Humans ; Infant ; Leiomyoma ; Lip ; Myoma* ; Pregnancy ; Sensation ; Traction ; Ultrasonography ; Urinary Bladder ; Urinary Retention ; Uterine Retroversion ; Uterus*

No abstract available.
Thoracoplasty*

Boerhaave syndrome is a rare and life-threatening disease that often presents a diagnostic challenge. It is usually confused with critical but more prevalent diseases such as acute myocardial infarction, perforated peptic ulcer, and acute pancreatitis. Boerhaave syndrome is caused by forceful vomiting resulting in a full-thickness tear of the middle or lower esophagus, typically an area of natural narrowing and at the esophagogastric junction and the left atrium. Because of these anatomic sites, hydropneumothorax, hemopneumothorax and pneumopericardium can occur. We report a case of a 48-year-old chronic alcoholic man presenting with abrupt onset of massive bilateral hydropneumothorax. In this case, it was hard to take a medical history from the patient due to sudden respiratory arrest when he arrived at the emergency room. Despite ongoing chest tube drainage, hydropneumothorax didn't improve. Pleural fluid amylase level was increased. Because of the possibility of esophageal rupture, esophagography was performed. As a result of the esophagography, he was diagnosed as Boerhaave syndrome with penumopericardium. If massive hydropneumothorax of unknown cause presents abruptly, boerhaave syndrome should be suspected as one of its causes. We recommend that pleural fluid amylase levels to be checked and if it is elevated, esophagography should be performed immediately.
Alcoholics ; Alcoholism ; Amylases ; Chest Tubes ; Drainage ; Emergencies ; Esophageal Perforation ; Esophagogastric Junction ; Esophagus ; Heart Atria ; Hemopneumothorax ; Humans ; Hydropneumothorax ; Mediastinal Diseases ; Middle Aged ; Myocardial Infarction ; Pancreatitis ; Peptic Ulcer ; Pneumopericardium ; Rupture ; Vomiting

No abstract available.
Nipples* ; Paget's Disease, Mammary*

In connective tissue diseases, autoantibodies cause pulmonary interstitial inflammation and fibrosis, and patients require treatment with an immunosuppressive agent such as a steroid. Dermatomyositis is an incurable, uncommon form of connective tissue disease that occasionally causes diffuse pulmonary inflammation leading to acute severe respiratory failure. In such cases, the prognosis is very poor despite treatment with high-dose steroid. In the present case, a 46-year-old man was admitted to our hospital with dyspnea. He was diagnosed with dermatomyositis combined with cryptogenic organizing pneumonia (COP) with respiratory failure and underwent treatment with steroid and an immunosuppressive agent, but the COP was not improved. However, the respiratory failure did improve after treatment with intravenous immunoglobulin, which therefore can be considered a treatment option in cases where steroids and immunosuppressive agents are ineffective.
Autoantibodies ; Connective Tissue Diseases ; Cryptogenic Organizing Pneumonia* ; Dermatomyositis* ; Dyspnea ; Fibrosis ; Humans ; Immunoglobulins* ; Immunosuppressive Agents ; Inflammation ; Lung Diseases, Interstitial ; Middle Aged ; Pneumonia ; Prognosis ; Respiratory Insufficiency ; Steroids

Purpose: To evaluate the incidence and pattern of recurrence after surgery in patients with organ-confined renal cell carcinoma (RCC) to establish an appropriate follow-up plan. Materials and Methods: In this retrospective study, we evaluated data from 2960 patients who underwent radical or partial nephrectomy for stage 1 or 2 RCC. We investigated the location of first recurrence and recurrence-free survival (RFS) by plotting Kaplan–Meier curves and analyzed the associated variables using Cox regression analysis. Results: During a median follow-up of 59 months, the 10-year RFS rates were 94.5%, 75.0%, and 57.9%, for T1a, T1b, and T2 RCC, respectively. A total of 211 patients experienced recurrence: 67 after 5 years, and 14 after 10 years. The most common sites of the first recurrence were the lungs, bones, and contralateral kidneys. Male sex, older age, higher pathologic T stage, higher nuclear grade, clear-cell RCC, and presence of differentiation were associated with recurrence. Among patients followed up for more than 60 months, higher pathologic T stage and grade, as well as clear cell RCC were predictors of RFS. Conclusion Late recurrence after surgery is common in patients with organ-confined RCC, with recurrence occurring even after 10 years. Consequently, long-term follow-up, of perhaps 10 years or more, including imaging studies of the abdomen, lungs, and bone, should be considered for the early detection of recurrence.

Purpose: To evaluate the incidence and pattern of recurrence after surgery in patients with organ-confined renal cell carcinoma (RCC) to establish an appropriate follow-up plan. Materials and Methods: In this retrospective study, we evaluated data from 2960 patients who underwent radical or partial nephrectomy for stage 1 or 2 RCC. We investigated the location of first recurrence and recurrence-free survival (RFS) by plotting Kaplan–Meier curves and analyzed the associated variables using Cox regression analysis. Results: During a median follow-up of 59 months, the 10-year RFS rates were 94.5%, 75.0%, and 57.9%, for T1a, T1b, and T2 RCC, respectively. A total of 211 patients experienced recurrence: 67 after 5 years, and 14 after 10 years. The most common sites of the first recurrence were the lungs, bones, and contralateral kidneys. Male sex, older age, higher pathologic T stage, higher nuclear grade, clear-cell RCC, and presence of differentiation were associated with recurrence. Among patients followed up for more than 60 months, higher pathologic T stage and grade, as well as clear cell RCC were predictors of RFS. Conclusion Late recurrence after surgery is common in patients with organ-confined RCC, with recurrence occurring even after 10 years. Consequently, long-term follow-up, of perhaps 10 years or more, including imaging studies of the abdomen, lungs, and bone, should be considered for the early detection of recurrence.

Purpose: To evaluate the incidence and pattern of recurrence after surgery in patients with organ-confined renal cell carcinoma (RCC) to establish an appropriate follow-up plan. Materials and Methods: In this retrospective study, we evaluated data from 2960 patients who underwent radical or partial nephrectomy for stage 1 or 2 RCC. We investigated the location of first recurrence and recurrence-free survival (RFS) by plotting Kaplan–Meier curves and analyzed the associated variables using Cox regression analysis. Results: During a median follow-up of 59 months, the 10-year RFS rates were 94.5%, 75.0%, and 57.9%, for T1a, T1b, and T2 RCC, respectively. A total of 211 patients experienced recurrence: 67 after 5 years, and 14 after 10 years. The most common sites of the first recurrence were the lungs, bones, and contralateral kidneys. Male sex, older age, higher pathologic T stage, higher nuclear grade, clear-cell RCC, and presence of differentiation were associated with recurrence. Among patients followed up for more than 60 months, higher pathologic T stage and grade, as well as clear cell RCC were predictors of RFS. Conclusion Late recurrence after surgery is common in patients with organ-confined RCC, with recurrence occurring even after 10 years. Consequently, long-term follow-up, of perhaps 10 years or more, including imaging studies of the abdomen, lungs, and bone, should be considered for the early detection of recurrence.