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.
Aneurysm*

No abstract available.
Fistula ; Iliac Vein ; Transplants

The acute anterior cruciate ligament injury is one of the most common ligament injury of the knee joint and there are many controversies in its treatment. Warren reported that the primary repair for the acute anterior cruciate ligament injuries was good, but some had opposite oppinions. Authors studied 23 patients of actue anterior cruciate ligament injury who were treated by primary repair from January, 1982 to December, 1984. The results were as followings: 1. The most common associated injury was MCL injury and posteromedial capsular injury(13 cases; 56.5%). 2. The most common detachment site of ACL was femoral attachment(11 cases; 47.8%) . 3. A medial Hocky Stick incision was found good in repairing the combined MCL and posteromedial capsular tear with ACL injury. 4. The results were good in 74% by Cincinnati score and in 87% by objective score. It is concluded that primary repair of the acute anterior cruciate ligament tear is cosidered successful.
Anterior Cruciate Ligament ; Humans ; Knee Joint ; Ligaments ; Tears

No abstract available.
Budd-Chiari Syndrome* ; Vena Cava, Inferior*

No abstract available.
Coronary Vessels* ; Fistula*

No abstract available.
Thanatophoric Dysplasia*

No abstract available.
Thanatophoric Dysplasia*

Endometriosis in the episiotomy scar following vaginal delivery is one of the very rare condition among the extrapelvic endometriosis. We have experienced two cases of endometriosis in the episiotomy scar following vaginal delivery. We report two cases with a brief review of the concerned literatures.
Cicatrix* ; Endometriosis* ; Episiotomy* ; Female

No abstract available.
Clostridium ; Clostridium difficile ; Colitis ; Colorectal Surgery ; Risk Factors