No abstract available.

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

The abnormalities in Hypothalamic-pituitary-adrenal(HPA) axis are associated with many psychiatric symptoms including depression. We present a report of a 71 year old man who was admitted to the psychiatric department presenting symptoms of headache, avolition, loss of energy, psychomotor retardation, poor appetite, insomnia, anxiety resulting from adrenal insufficiency and hypopituitarism. Hypothyroidism and electrolyte disturbance were managed and headache, insomnia, anxiety, GI symptoms were improved. But he remained in anergic state. After discharge, he was readmitted to infection department with high fever and drowsy mentality. Adrenal insufficiency was recognized and he was treated with corticosteroid replacement therapy. Finally his diagnosis was made as panhypopituitarism and overall symptoms were resolved. In this case, we showed how the atypical symptoms resulting from hypopituitarism develop and progress. Hypothyroidism, adrenal insufficiency, and growth hormone deficiency resulting secondarily from panhypopituitarism were associated with various nonspecific symptoms such as loss of energy, fatigue, insomnia, weight loss, decreased appetite etc. In clinical situation, differential diagnosis with depression is needed when clinicians were met a patient with these nonspecific symptoms. It is important that laboratory tests and differential diagnosis with endocrine diseases should be conducted, especially in geriatric patients with nonspecific symptoms like anergia, fatigue, poor appetite and so on.
Adrenal Insufficiency ; Anxiety ; Appetite ; Axis ; Depression ; Diagnosis, Differential ; Endocrine System Diseases ; Fatigue ; Fever ; Growth Hormone ; Headache ; Humans ; Hypopituitarism ; Hypothyroidism ; Sleep Initiation and Maintenance Disorders ; Weight Loss

The uptake of glucose for metabolism and growth is essential to most animal cells and is mediated by glucose-transporter (GLUT) proteins. The aim of this study was to determine which class of glucose transporter molecules was responsible for uptake of glucose in the mouse early embryo and at which stage the corresponding genes were expressed. In addition, co-culture system with vero cell was used to investigate the effect of the system on GLUT expression. Two-cell stage embryos were collected from the superovulated ICR female and divided into 3 groups. As a control, embryos were cultured in 0.4% BSA-T6 medium which includes glucose. For the experimental groups, embryos were cultured in either co-culture system with vero cells or glucose-free 76 medium supplemented with 0.4% BSA and pyruvate as an energy substrate. 2-cell to blastocyst stage embryos in those groups were respectively collected into microtubes (50 embryos/tube). Total RNA was extracted and RT-PCR was performed. The products were analysed after staining ethidium bromide by 2% agarose gel electrophoresis. Blastocysts were collected from each group at 120hr after hCG injection. They were fixed in 2.5% glutaraldehyde, stained with hoechst, and mounted for observation. In control, GLUT1 was expressed from 4-cell to blastocyst. GLUT2 and GLUT3 were expressed in morula and blastocyst. GLUT4 was expressed in all stages. When embryos were cultured in glucose-free medium, no significant difference was shown in the expression of GLUTI1, 2 and 3, compared to control. However GLUT4 was not expressed until morular stage. When embryos were co-cultured with vero cell, there was no significant difference in the expression of GLUT1, 2, 3 and 4 compared to control. To determine cell growth of embryos, the average cell number of blastocyst was counted. The cell number of co-culture (93.8+/-3.1, n=35) is significantly higher than that of control and glucose-free group (76.6 +/- 3.8, n=35 and 68.2+/-4.3, n=30). This study shows that the GLUT genes are expressed differently according to embryo stage. GLUTs were detectable throughout mouse preimplantation development in control and co-culture groups. However, GLUT4 was not detected from 2- to 8-cell stage but detected from morula stage in glucose-free medium, suggested that GLUT genes are expressed autocrinally in the embryo regardless of the presence of glucose as an energy substrate. In addition, co-culture system can increase the cell count of blastocyst but not improve the expression of GLUT. In conclusion, expression of GLUT is dependent on embryo stage in preimplantation embryo development.
Animals ; Blastocyst ; Cell Count ; Coculture Techniques ; Electrophoresis, Agar Gel ; Embryonic Development ; Embryonic Structures* ; Ethidium ; Female ; Glucose Transport Proteins, Facilitative* ; Glucose* ; Glutaral ; Humans ; Metabolism ; Mice* ; Morula ; Pregnancy ; Pyruvic Acid ; RNA ; Vero Cells

We herein report a case of occupational contact urticaria syndrome induced by cefotiam di-hydrochloride in a nurse. She had generalized pruritic wheals accompanied by palpitations and tachypnea during the preparation of cefotiam solution. A scratch patch test with cefotiam di-hydrochloride, a major component of cefotiam ingredient showed multiple erythema and wheals within 5 minutes, accompanied by palpitations and tachypnea. No delayed type reaction was observed. Based on her clinical history and scratch test result, we diagnosed her condition as contact urticaria syndrome caused by cefotiam.
Cefotiam* ; Erythema ; Patch Tests ; Tachypnea ; Urticaria*

No abstract available.
Endometriosis* ; Female ; Pregnancy*

Acral persistent papular mucinosis is a subtype of the localized papular mucinosis. Clinically, ivory to flesh-colored papules develop exclusively on the back of the hands, the extensor surface of the wrists, and occasionally the distal forearms. Histologically, mucin accumulates in the upper reticular dermis, typically sparing a subepidermal zone and fibroblasts are not increased in number. On experiencing a case of numerous papules on both hands and forearms of a fifty year-old woman, we present it as acral persistent papular mucinosis.
Dermis ; Female ; Fibroblasts ; Forearm ; Hand ; Humans ; Mucins ; Scleromyxedema* ; Wrist

No abstract available.
Humans ; Inpatients*

Few cases of ichthyosis bullosa of Siemens(IBS) have been reported since 1939, as a distinct entity from bullous congenital ichthyosiform erythroderma(BCIE). IBS can be differentiated from BCIE by the absence of congenital erythroderma and a different distribution of involved skin area. It's characteristic features include blistering, superficial erosion or moulting of the outer skin. Histological features are tonofilaments aggregation confined to the granular and upper spinous layer of the epidermis. However, in BCIE these findings are present in the whole suprabasal compartment. The original reports of Siemens and cases from other authors showed an autosomal dominant inheritance. Our patient developed IBS sporadically without a familial background.
Blister ; Dermatitis, Exfoliative ; Epidermis ; Humans ; Ichthyosis Bullosa of Siemens* ; Ichthyosis* ; Intermediate Filaments ; Molting ; Skin ; Wills

Several reports on burst fractures of the thoracolumbar spine have noted that the neural canal encroachment caused by bone in the canal did not correlate with the neurologic status of the patient. But in the thoracolumbar spine the average percent compromise was significantly higher in those patients with complete and incomplete lesions, compared with those patients with no neural deficits. In this study, we evaluated 38 patients with unstable thoracolumbar fractures, operated from March 1989 to February 1993 to know the amount of neural canal compromise, demonstrated on computed tomography scans with neurologic status, level of injury and type of fractures. Among them 22 patients had neurologic deficit and 16 did not neurologic deficit. The results were as follows; 1. 19(76%) of 22 patients with disruption of the posterior spinal elements had neurologic defictis. 2. In the group with neurologic deficits, the stenotic ratio was 44% at the epiconus level, 55% at the conus medullaris, level and 63% at the cauda equna level. 3. The average A-P diameter of the bony fragments retropulsed into the spinal canal was 4.5mm at the epiconus level, 5.2mm at the conus medullaris level and 6.0mm at the cauda equina level. 4. Unstable bursting fracture and fracture dislocation showed higher incidence of neurologic injury and percentage of spinal stenotic ratio than those of flexion distraction and wedge compression fracture. In conclusion, the higher the level of the injured vertebrae, the smaller the size of the retropulsed fragment needed compromise the neural tissues. We suggest that it is necessary to get enough decompression for restoration of spinal canal and recovery of neurological function and computed tomography was more sensitive than any other modality in detection the reduction of the retropulsed bony fragment into spinal canal.
Cauda Equina ; Decompression ; Dislocations ; Fractures, Compression ; Humans ; Incidence ; Neural Tube ; Neurologic Manifestations ; Spinal Canal ; Spinal Cord ; Spine ; Tomography, X-Ray Computed