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

Generalized lipodyst,rophy is characterized by generalized loss of body fat, and is asociated vith metabolic ahnormalities, including insulin resistance, hyperglycemia., and hypertriglyceridemia. like acanthosis nigricans, generalized lipodystrophy is a cutaneous marker of insulin re.istant diabetes. We report. herein a twenty year old female witti both classic generalized lipodystripin and acanthosis nigricans, in association with insulin resistant diabetes.
Acanthosis Nigricans ; Adipose Tissue ; Female ; Humans ; Hyperglycemia ; Hypertriglyceridemia ; Insulin ; Insulin Resistance ; Lipodystrophy, Congenital Generalized*

A 25-year-old woman developed generalized urticaria and an anaphylactic syndrome of sudden onset while she was being treated for her decubitus ulcer with chlorhexidine antiseptic solution. Prick test with 0.5% chlorhexidine produced a wheal in a few minutes. A passive intradermal transfer test (PK test) to her mother was positive. These enabled us diagnose her as having an immunologic contact urticaria to chlorhexidine.
Adult ; Chlorhexidine* ; Female ; Humans ; Mothers ; Pressure Ulcer ; Urticaria*

Sweet's syndrome is an important cutaneous sign of underlying myeloproliferative disorder. The majority of cases have occurred with acute leukemia, primarily of the myelogenous type. We described a case of Sweet's syndrome in a patient with myelodysplastic syndrome that preceded acute myelogenous leukemia by 9 months.
Humans ; Leukemia ; Leukemia, Myeloid, Acute* ; Myelodysplastic Syndromes* ; Myeloproliferative Disorders ; Sweet Syndrome*

Human seminal plasrna (HSP) is mixture of secretion derived from various glands associated with male reproductive tract which comprises approximately 80-90% of the volume of normal ejaculate. The present study was undertaken in an effort to explore the effect of HSP pretreatment on the production of IL-1B, TNF-a and IL-12, in mice, and to investigate if HSP may cause to induce active systemic anaphylaxis (ASA) in mice. In addition, effects of HSP pretreatment on contact hypersensitivity to trinitrochlorobenzene (TNCB), antibody response to polyvinylpyrroridone (PVP), a thymus-independent antigen and on ASA induced by egg albumin (OVA) were also studied in this study. For the experiments of contact hypersensitivity, antibody response and cytokine production, mice were pretreated i.p. daily with 0.3ml of HSP or sterile saline alone (control) for 3 consecutive days before antigen sensitization or lipopolysaccharide injection for the cytokine induction. For the experiments of OVA- induced anaphylaxis, mice were pretreated by a single s.c. injection of HSP 0.3ml per mouse before sensitization. For induction of ASA in mice by HSP, a group of mice were sensitized i.p. 2 consecutive days with 0.3ml of HSP and one day with 0.3 ml of HSP plus 2x10(9) B. pertussis and 1.0 mg of alum (schedule A) or another group of mice were sensitized i.p. with a single i.p. injection of 0.3 ml of HSP with 2x10' B. pertussis and 1.0 mg of alum (schedule B). All sensitized and unsensitized control mice were challenged i.v. with 0.2ml of HSP 14 days after HSP sensitization, and mortality were observed. It was found that HSP pretreatment inhibited the production of IL-lB, TNF-a and IL-12, and also inhibited OVA-induced ASA, contact hypersensitivity to TNCB and anti-PVP antibody production. Interestingly, ASA was induced by HSP irrespective of the applied sensitization schedule. Taken together, this study may provide the direct evidences that HSP may inhibit the production of IL-1B, TNF-a and IL-12 and this may be the first to show the induction of ASA by HSP in mice.
Anaphylaxis* ; Animals ; Antibody Formation ; Appointments and Schedules ; Dermatitis, Contact ; Humans* ; Interleukin-12 ; Male ; Mice* ; Mortality ; Ovum ; Picryl Chloride ; Semen* ; Whooping Cough

No abstract available.
Pierre Robin Syndrome*

No abstract available.
Heart Rate* ; Heart* ; Shock, Hemorrhagic*

Tuberculosis of the duodenum is rare event in patients with pulmonary or intestinal tuberculoais. It is very difficult to diagnose duodenal tuberculosis because of inconaiatent symptoms and nonspecific duodenal lesioa. Although fiberoptic endoscopy has been used, there is the limitation of fiberoptic endoscopy ia diagnosingthis disease and the diagnoais require laparotomy with biopsy. Recently we experienced a case of duodenal tuberculosis with duodenoscopic findings of the submucosal tumor of duaidenum. We report a case with review of literatures.
Biopsy ; Duodenum* ; Endoscopy ; Humans ; Laparotomy ; Tuberculosis*

No abstract available.
Keratins*

No abstract available.
Coronary Vessels* ; Fistula*