No abstract available.
Tetanus*

No abstract available.
Female ; Mammaplasty*

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.
Cervix Uteri* ; Female ; Neuroendocrine Cells*

No abstract available.
Thoracic Nerves*

No abstract available.
Evoked Potentials, Somatosensory* ; Spinal Stenosis* ; Spine*

No abstract available.
H-Reflex*

No abstract available.
Polyradiculoneuropathy*

No abstract available.
Spinal Stenosis*

Pearly penile papules are small, smooth, dome-shaped, grayish to skin-colored papules, that are arranged in one or several rows. These are commonly located circumferentially on the corona and sulcus of the glans penis. A 36-year-old male patient had had asymptomatic numerous pearly smooth 1 * 1mm -sized dome-shaped papules for several months. A Histopathological examination revealed an increased number of fibroblasts on the papillary dermis, vascular proliferation and a mild lymphocytic infiltration. We diagnosed the condition as pearly penile papules. No treatment other than reassurance was given. We report, herein, a case of pearly penile papules.
Adult ; Dermis ; Fibroblasts ; Humans ; Male ; Penis