PURPOSE:Varying clinical phenotypes are associated with the chromosome 22q11.2 microdeletion syndrome. The endocrine manifestation are latent or overt hypoparathyroidism, thyroid dysfunction and short stature. This study was undertaken to investigate frequencies of endocrine abnormalities and short stature in patients with the chromosome 22q11.2 microdeletion syndrome. METHODS:Forty three unrelated patients were diagnosed having chromosome 22q11.2 microdeletion syndrome. Chromosomal microdeletion was confirmed by fluorescent in situ hybridation (FISH) with DNA probe (22q11.2 LSI TUPLE1 from Vysis). Serum total calcium and intact parathyroid hormone (PTH) were measured in all patients. Thyroid function tests including free thyroxine(T4), thyroid stimulating hormone (TSH) and thyroid autoantibodies were performed in all patients. Insulin-like growth factor-1 (IGF-1) was measured in 10 patients. Height, weight and body mass index were compared with chronological age in all patients. RESULTS:Seven patients (16%) had an overt hypoparathyroidism, presenting with hypocalcemic tetany. Thirteen patients (31%) showing hypocalcemia with normal PTH were regarded as having latent hypoparathyroidism since their PTH secretion response was blunted. Out of 2 patients with thyroid diseases, one patient had Graves disease and the other had Hashimoto thyroiditis. Five patients (12%) were below the 3rd percentile in height at evaluation. The BMI was below the 5th percentile in 23% of patients. CONCLUSION: Twenty patients (47%) presented with overt and latent hypoparathyroidism. Interestingly, autoimmune thyroid diseases such as Graves disease and Hashimoto thyroiditis were associated in patients with chromosome 22q11.2 microdeletion, indicating predisposition to autoimmune disorders. Therefore, a careful endocrine and growth evaluation is needed in these patients.
Autoantibodies ; Body Mass Index ; Calcium ; DNA ; Graves Disease ; Hashimoto Disease ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Tetany ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotropin

No abstract available.
Cataract* ; Nephrotic Syndrome*

Pseudoxanthoma elasticum is a rare, heritable disorder of elastic fibers characterized by yellowish, coalescing papules on the loose and wrinkled flexural skin. An 18-year-old man presented cutis laxa-like marked wrinkling on the axillae, trunk and thighs for about 10 years. There was no similar skin lesion on his family members and no other systemic involvement was found. Histopathological examination of the abdomen revealed fragmentation and calcification of elastic fibers in the middle and lower dermis. Von Kossa staining showed calcium deposition along the altered elastic fibers. Herein, we report a rare case of autosomal recessive pseudoxanthoma elasticum presenting generalized cutaneous laxity.
Abdomen ; Adolescent ; Axilla ; Calcium ; Dermis ; Elastic Tissue ; Humans ; Pseudoxanthoma Elasticum* ; Skin ; Thigh

A 28-year-old woman presented with multiple, asymptomatic, erythematous to bluish papules located on the chest. Histopathologically, three round, well defined cystic structures were seen on the upper and lower dermis. The first cyst was milia, the second was apocrine hidrocystoma and the other, largest cyst was an eruptive vellus hair cyst (EVHC). A diagnosis of multiple pilosebaceous cysts combined with apocrine hidrocystoma was made. Since the milia and EVHC originate from the pilosebaceous unit, and the apocrine duct opens to the pilosebaceous orifice, we suggest that they can occur simultaneously in the same unit.
Adult ; Biopsy ; Dermis ; Female ; Hair ; Hidrocystoma ; Humans ; Thorax

Crossed renal ectopia with fusion is an unusual congenital anomaly, probably produced by abnormal development of the ureteral bud. The deformity itself produces no symptoms but it presents possible urinary tract infection, obstuction and stone formation, and other anomaly in body. Herein we report two cases of crossed fused renal ectopia complained of abdominal mass in 28 year old female and abdominal pain after trauma in 14 year-old boy.
Abdominal Pain ; Adolescent ; Adult ; Congenital Abnormalities ; Female ; Humans ; Male ; Ureter ; Urinary Tract Infections

From October 1974 to September 1984, 64 consecutive patients of bladder and urethral cancer were treated by cystectomy and urinary diversion at the Department of Urology, Pusan National University Hospital. Comparative study was made between enteric diversion and ureterocutaneostomy, and several surgical mo. dality of cystectomy. The results obtained were as follows. l. The modes of cystectomy were simple cystectomy in 5 cases (7.8%), total cystectomy in 48 cases (75.0%), radical cystectomy in 10 cases (15.6%) and pelvic exenteration in 1 cases (1.6%). 2. The causes of cystectomy with urinary diversion were primary bladder cancer in 60 cases (93.8%), urethral carcinoma in 2 cases (3.1%) and metastatic bladder cancer in 2 cases (3.1%). 3. The methods of urinary. diversion were ileal conduit in 38 cases (59.4%) , ileocecal conduit in 5 cases (7.8%), tube in double stoma ureterocutaneostomy in 7 cases (10.9%) and tubeless single stoma ureterocutaneostomy in 14 cases (21.9%). 4. Age distribution was from 4 to 79 years and average was 56.3 years. Male to female ratio was 7:l. 5. Most frequent urinary diversion was enteric in 6th decade and ureterocutaneostomy in 7th decade. 6. Average operation time was 360 minutes in enteric diversion with total cystectomy and 272 minutes in ureterocutaneostomy with total cystectomy. 7. High stage (>=pT2) was 76.5% in enteric diversion and 81.O% in ureterocutaneostomy. High grade (II or III) was 67.6% in enteric diversion and 81.0% in ureterocutaneostomy. 8. Early complication rates were 50.0% in ileal conduit, 60.0% in ileocecal conduit, 42.9% in tube in double stoma ureterocutaneostomy, and 35.7% in tubeless single stoma ureterocutaneostomy. Late complication rates were 52.4% in ileal couuit, 40.0% ileocecal conduit and 33.3% in tubeless single stoma ureterocutaneostomy. 9. Local recurrence of tumor was observed in 80.0% of simple cystectomy cases but recurrence was not in total or radical cystectomy. Conclusively, total or radical cystectomy is treatment of choice in invasive bladder tumor rather than simple cystectomy. And single stoma ureterocutaneostomy may be useful method of urinary diversion inhigh stage, high grade, aged and poor risk patient if stomal control is male carefully.
Age Distribution ; Busan ; Cystectomy* ; Female ; Humans ; Male ; Pelvic Exenteration ; Recurrence ; Urethral Neoplasms ; Urinary Bladder ; Urinary Bladder Neoplasms ; Urinary Diversion* ; Urology

No abstract available.
Burns* ; Congenital Abnormalities* ; Free Tissue Flaps*

The Epstein-Barr virus(EBV) is known to play a causal role in oncogenesis and to be associated with endemic Burkitt's lymphomas, B cell lymphomas in immunocompromised patients, and nasopharyngeal carcinomas. More recently, EBV has also associated with Hodgkin's disease, B cell lymphomas in non-immunocompromised patients, and T-cell lymphomas. Twenty eight cases of a non-Hodgkin's lymphoma of gastrointestinal tract were investigated to determine both the immunophenotype by using immunohistochemical staining and the incidence of the EBV nuclear antigen by using the polymerase chain reaction. Twenty-four of the 28 cases(85.7%) were B-cell type, and 4 of the 28 cases(14.3%) are of T-cell type. The EBV nuclear antigen was detected in three of the 28 cases(10.7%), including two cases of B-cell lymphoma of the stomach and one case of T-cell lymphoma of the small bowel. The EBV nuclear antigen was more frequently found in malignant lymphomas arising in the intestine(1/4) than in stomach(2/16). EBV positivity (25%) in T-cell NHLs was rather higher than EBV positivity (8.3%) in B-cell NHLs. Further expanded evaluations on the role of EBV in the tumorigenesis of a gastrointestinal malignant lymphomas are necessary because the cases of gastrointestinal lymphomas examined were very limited.
B-Lymphocytes ; Burkitt Lymphoma ; Carcinogenesis ; Gastrointestinal Tract* ; Herpesvirus 4, Human* ; Hodgkin Disease ; Humans ; Immunocompromised Host ; Incidence* ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, Non-Hodgkin* ; Lymphoma, T-Cell ; Polymerase Chain Reaction ; Stomach ; T-Lymphocytes

No abstract available.
Wilms Tumor*

No abstract available.
Nephrotic Syndrome*