Anhidrotic ectodermal dysplasia (AED) is characterized by a well-known tetrad of anhidrosis, hypotrichosis, hypodontia, and typical facies with a wide constellation of developmental defects of tissues derived from the ectoderm. Most of these patients have normal or borderline normal intelligence, but some present with mental retardation. A 15-year-old boy and his younger brother were evaluated for dry skin and intolerance to heat since their births. Their parents and other brother were normal. Both of them had atopic dermatitis. A skin biopsy was done on their left axilla, which showed a few immature eccrine glands in the dermis. We report herein two rare cases of AED in siblings with atopic dermatitis.
Adolescent ; Anodontia ; Axilla ; Biopsy ; Dermatitis, Atopic* ; Dermis ; Eccrine Glands ; Ectoderm ; Ectodermal Dysplasia* ; Facies ; Hot Temperature ; Humans ; Hypohidrosis ; Hypotrichosis ; Intellectual Disability ; Intelligence ; Male ; Parents ; Parturition ; Siblings* ; Skin

No abstract available.

BACKGROUND: Respiratory depression with high dose of propofol during induction is one of the major complications. We studied the effects of midazolam as premedicant on frequency and duration of apnea and frequency of loss of consciousness in relation to single dose of propofol. METHODS: We selected 194 adult patients who had clear consciousness and no depression of respiration. We allocated patients randomly to control group and midazolam group. In midazolam group, we injected 0.06mg/kg of midazolam intravenously 10min before induction, and in control group, we did nothing. Under mask oxygenation with 100% oxygen, we administered a bolus of propofol (1, 1.5, 2 mg/kg to subgroup 1, 2, 3 respectively) intravenously. The change of respiration and loss of consciousness were observed. RESULTS: The frequency and duration of apnea increased with the dose of propofol in both control and midazolam group. But there were no difference between groups except frequency of apnea with 1.5 mg/kg of propofol. In control group, frequency of loss of consciousness increased with the increasing dose of propofol. But in midazolam group, nearly all the patients was slept without difference by the dose. CONCLUSIONS: Premedication with midazolam reduce the sleeping dose of propofol to induce anesthesia, so the frequency and duration of apnea which is caused by high dose of propofol can be decreased.
Adult ; Anesthesia ; Apnea* ; Consciousness ; Depression ; Humans ; Masks ; Midazolam* ; Oxygen ; Premedication ; Propofol* ; Respiration ; Respiratory Insufficiency ; Unconsciousness*

BACKGROUND AND OBJECTIVES: The relationship of cold pressor, hyperventilation and exercise test responses to circadian patterns and types of angina in vasospastic angina have still not been known. The aim of this study was to identify subgoups of patients who have similar clinical features and provocation test response. MATERIALS AND METHODS: Twenty-one consecutive patients with pure vasospastic angina were studied. Six exercise tests were performed in the early morning, late morning, and late afternoon in consecutive days, and 2 hyperventilation tests and 2 cold pressor tests in the early morning. Circadian distribution and types of angina(at rest, on physical activity or both) were evaluated by clinical history, clinical records and ambulatory ECG recordings during admission and follow-up periods(mean 19+/-9 months). RESULTS: Three patterns of circadian distribution of anginal attacks were identified during all observation periods together(morning and night: MN n=, morning and afternoon or evening: M+/E n=, morning, night and afternoon and/or evening: MN+/E n=1). Exercise test was positive in 36%(40/111) without circadian variation, hyperventilation test in 66%(23/35) and cold pressor test in 6%(2/33). Neither hyperventilation test nor cold pressor test was related to circadian patterns, types or activity of angina, or numbers of spastic artery. But positive exercise test increased significantly in patients with angina on physical activity(43% vs 21%, p<0.05), high activity(57% vs 18%, p<0.01), multivessel spasm(50% vs 27%, p<0.05 ) and circadian patterns of M+/E and MN+/E(29%, 55% vs 4%, p<0.05, p<0.01). All patients with MN had rest angina and single vessel spasm. All 6 patients with M+/E had angina both at rest and on physical activity and 5 single vessel spasm. Eight of 11 patients with MN+/E had angina both at rest and on physical activity and 8 multivessel spasm. CONCLUSION: These findings suggest that hyperventilation test is highly sensitive in vasospastic angina without any relationship to clinical features, but exercise test response is related well to circadian patterns of angina attacks which are associated with characteristic clinical features.
Arteries ; Electrocardiography ; Exercise Test ; Follow-Up Studies ; Humans ; Hyperventilation ; Motor Activity ; Muscle Spasticity ; Spasm

No abstract available.
Connective Tissue Diseases* ; Connective Tissue* ; Diagnosis*

A 33 year old woman with tuberous sclerosis and pulmonary lymphangiomyomatosis was undertaken bilateral sequential lung transplantation. Due to the progressive dyspnea and recurrent pneumothorax, she could not handle her normal daily life without oxygen supplements. The natural history of a patient with tuberous sclerosis and symptomatic lung involvement says the mean expected survival is 4 years. Such guidelines as severe obstructive lung disease, unavailable medical therapy, substantial limitation in activities of daily living, and limited life expectancy made her be a recipient of lung transplantation expecting both prolongation of life and the better quality of life. In this transplantation case, we have experienced such delicate problems as gross ventilation-perfusion mismatch, reperfusion pulmonary edema, much decreased renal function, etc.
Activities of Daily Living ; Adult ; Dyspnea ; Female ; Humans ; Life Expectancy ; Life Support Care ; Lung Diseases, Obstructive ; Lung Transplantation* ; Lung* ; Lymphangioleiomyomatosis ; Natural History ; Oxygen ; Pneumothorax ; Pulmonary Edema ; Quality of Life ; Reperfusion ; Tuberous Sclerosis

OBJECTIVES: Thyroid cancer patients may experience emotional distress during cancer treatment including surgical operation and radioactive iodine treatment. The aims of this prospective study were to investigate changes of anxiety and depressive symptoms in patients with differentiated thyroid cancer(DTC) under preoperative, postoperative and short-term hypothyroidism state. METHODS: Using the Hospital Anxiety and Depression scale(HAD) and the Distress Thermometer, we sequentially assessed the levels of anxiety, depression and distress in 41 DTC patients at 3 time points such as preoperative state, postoperative state and short-term hypothyroidism state. RESULTS: The HAD-anxiety score was significantly higher in preoperative state(6.93+/-3.97) than postoperative state(4.22+/-2.92) and short-term hypothyroidism state(4.93+/-3.64). Any other significant change in depression or distress thermometer score was not observed. Especially, difference of HADS score between the distress and none-distress groups was significant in preoperative state and post-operative state, but the difference become not significant in the short-term hypothyroidism state. CONCLUSIONS: Induced thyroid hormone deficiency during cancer treatment does not significantly affect emotional distress in patient with DTC. Anxiety and depression in these patients may be associated with distress of the patient before active cancer treatment.
Anxiety ; Dapsone ; Depression ; Humans ; Hypothyroidism ; Iodine ; Prospective Studies ; Thermometers ; Thyroid Gland ; Thyroid Neoplasms

The purpose of this study was to evaluate the humeral tunnel characters and clinical relevance according to entry point of the humeral tunnel in the baseball players. It was hypothesized that the medial collateral ligament (MCL) reconstruction with nonanatomical starting location of the humeral tunnel (inferior edge of the medial epicondyle: group NA) provided less favorable radiological and clinical outcomes compared to that with anatomical starting location (original footprint of the MCL: group A). The retrospective case review yielded 19 consecutive athletes who underwent isolated MCL reconstruction using the docking technique. Three dimensional-computed tomography scan was performed at 3 months, and the iso-surfacing by marching cubes algorithm were applied to evaluate the length and angle of humeral tunnel. Three outcome measures were used in this study: the visual analog scale for pain, range of motion and the Conway scale. The angle of the humeral tunnel was measured 12.2° (range, 7.9°–25.2°) in the group NA and 15.5° (range, 9.8°–30.4°) in the group A (p<0.05). The mean length of humeral tunnel is measured 16.3 mm (range, 11.7–20.1 mm) in the group NA and 15.2 mm (range, 10.3–19.1 mm) in the group A (p<0.05). MCL reconstruction brought substantial improvement in pain and function. However, between-group comparison revealed no statistical differences in all outcome measurements. The MCL reconstruction using the docking technique provided favorable clinical outcomes in baseball players. Although the humeral tunnel angle and length were different depending on the humeral entry points, clinical differences between the two entry points were not found.
Athletes ; Baseball* ; Collateral Ligaments* ; Humans ; Outcome Assessment (Health Care) ; Range of Motion, Articular ; Retrospective Studies ; Visual Analog Scale

The purpose of this randomized, prospective study was to compare the intubation time, hemodynamic effect and complication rates of orotracheal intubation performed by direct laryngoscopic or lighted stylet (lightwand) methods in the controlled settings of the operating room. After approval of clinical investigation committee and informed consent from patients, healthy ASA class 1 and 2 elective surgical patients were studied. On arrival to operating room, EKG, radial arterial cannulation to monitor blood pressure continously and neuromuscular monitoring device were applied to patients. Anesthesia was induced with fentanyl 3 ug/kg, thiopental 4 mg/kg and vecuronium 0.15 mg/kg to facilliate relaxation. Ventilation was controlled for 5 min by facemask with oxygen-isoflurane (1.2 vol%) or enflurane(1.7 vol%) before intubation. The patients were intubated randomly using either direct curved laryngoscope (DL, 37 patients) or lightwand (LW, 36 patients). The time to intubation (TTI) was recorded. The mean arterial pressure(MAP) and heart rate(HR) were recoreded every 30 sec after intubation for 5 min. The changes of MAP and HR after intubation were compared with pre-intubation value. After extubation, complications such as mucosal trauma and postoperative sore throat were recorded. The data were analyzed using either unpaired t-test or Chi-square analysis, where appropriate. There were no failed intuhation in either groups. There was no significant differences between the groups with respect to sex, age, weight, height, existence of nasogastric tube. The TTI was similar between groups(14.5+/-8.1 sec for LW, 16.8+/-9.5 sec for DL). There was no differences in incidence of trauma(19.4% for LW, 16.2% for DL) between groups. There were no statistically significant difference in the maximal increase in MAP(44% for LW, 55% for DL at 30 sec) and HR(25.6% for LW, 24.1% for DL at 30 sec) and during 5 min following intubation. In canclusion, even though the hemadynamic effect after intubation was not influenced by using LW, the results of this study indicate that the use of the LW is as useful, effective and safe method as using DL for oro-endotracheal intubation. Further study may prove that using the LW to be an effective alternative technique of intubation in patients with difficult airway.
Anesthesia ; Blood Pressure ; Catheterization ; Electrocardiography ; Fentanyl ; Heart ; Hemodynamics* ; Humans ; Incidence ; Informed Consent ; Intubation* ; Laryngoscopes ; Neuromuscular Monitoring ; Operating Rooms ; Pharyngitis ; Prospective Studies ; Relaxation ; Thiopental ; Vecuronium Bromide ; Ventilation

Ganglioneruroblastoma and neuroblastoma are among commonest types of childhood malignancy and a number of unique paraneoplastic syndromes have associated with both localized and disseminated neuroblastoma. The coincidence of neuroblastoma and myoclonic encephalopathy or other paraneoplastic syndromes occurs relatively rare, and therefore, failure to recognize this association could result in delays in both diagnosis and treatment, and the result could prove to be unfortunately fatal. The mechanism which underlies the remote damaging effect of neural crest tumor, especially neuroblastoma, on the nervous system resulting in myoclonic encephalopathy is by no means clear. In addition the nature and the extent of the pathologic lesion are inconsistent. We experienced a case of myoclonic encephalopathy associated with an occult mediastinal ganglioneuroblastoma in a 22-month-old girl who was hospitalized for inability to walk without support and tilting of the head to the left side. She became increasingly ataxic, and during the hospitalization myoclonic jerks of upper extremities and head along with chaotic, rapidly flickering, multidirectional spontaneous eye movements, were noted. Laboratory data included normal complete blood count, urinalysis, BUN and creatinine, electrolytes and bone marrow. Chest X-ray and chest CT revealed a relatively well marginated right posterior mediastinal mass. In a 24 hours urine excretion test, VMA and catecholamines were increased. Over the next 2 weeks, a surgical exploration revealed a right posterior mediastinal mass. Microscopically the mass proved to be a ganglioneuroblastoma, extending to right innominate artery and right axillary lymph nodes. Within 2 weeks after the surgery, radiotherapy (2,400 rads) and chemotherapy (CTX, DTIC, VCR) were started, but corticosteroid was not used. She has been free of tumor and abnormal neurological systemic symptoms and signs for 1 1/2 year since the completion of chemotherapy. In the 3 1/2 years follow-up period, her neurologic symptoms has completely resolved by the completion of 2 years chemotherapy. We report a case of mycoclonic encephalopathy associated with hidden ganglioneuroblastoma in 22-month-old girl.
Blood Cell Count ; Bone Marrow ; Brachiocephalic Trunk ; Catecholamines ; Creatinine ; Dacarbazine ; Diagnosis ; Drug Therapy ; Electrolytes ; Epilepsies, Myoclonic* ; Eye Movements ; Female ; Follow-Up Studies ; Ganglioneuroblastoma* ; Head ; Hospitalization ; Humans ; Infant ; Lymph Nodes ; Myoclonus ; Nervous System ; Neural Crest ; Neuroblastoma ; Neurologic Manifestations ; Paraneoplastic Syndromes* ; Radiotherapy ; Thorax ; Tomography, X-Ray Computed ; Upper Extremity ; Urinalysis