Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic feature of anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a l-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical feature and skin biopsy.
Biopsy ; Dentition ; Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Fever ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Male ; Skin ; Tooth

No abstract available.
Humans

Cardiopulmonary bypass (CPB) in children is associated with the accumulation of body water after cardiac operation, as a consequence of an inflammatory capillary leak. Following work by Elliott in 1991, modified ultrafiltration (MUF) was introduced after bypass as a means of hemoconcentrating patients and a potential way of removing water from the tissues. We have carried out a prospective randomized study of 20 children undergoing open heart surgery, comparing MUF with nonfiltered controls. MUF was carried out for a mean of 18.9 minutes after completion of CPB to a hematocrit of 37.1% (mean). The mean water volulme removed by the ultrafiltration was 38.4 ml/kg and the mean blood volume retransfused from the oxygenator during the ultrafiltration was 32.1 ml/kg. Fluid balance, hemodynamics, hematocrit, osmolarity and dosage of drug treatment were recorded for 4~12 hours postoperatively. The results were analyzed using Student t-test and ANOVA, comparing controls (n=10) to MUF (n=10). Blood loss (ml/kg/24hr) was 14.5 (mean) in MUF versus 13.7 in controls; blood transfused (ml/kg/24hr) 6.6 in MUF versus 15.2 in controls; plasma transfused (ml/kg/24hr) 65.7 in MUF versus 59.6 in controls. There was rise in arterial blood pressure and hematocrit during MUF. Percent rise of systolic blood pressure was 28.8% in MUF versus 18.7% in controls (p=0.366); percent rise of diastolic blood pressure was 28.8% in MUF versus 8.5% in controls (p=0.135); and percent rise of mean blood pressure was 36.2% in MUF versus 8.2% in controls (p=0.086). Percent rise of hematocrit was 40.0% in MUF versus 23.5% in controls (p=0.002). There was no significant difference in the inotropic requirement and the postoperative serum osmolarity between two groups. The number of days on the ventilator, the duration of stay in the intensive care unit, and the postoperative hospital stay were not significantly different between the two groups.
Arterial Pressure ; Blood Pressure ; Blood Volume ; Body Water ; Capillaries ; Cardiopulmonary Bypass ; Child ; Heart* ; Hematocrit ; Hemodynamics ; Humans ; Intensive Care Units ; Length of Stay ; Osmolar Concentration ; Oxygen ; Oxygenators ; Plasma ; Postoperative Period ; Prospective Studies ; Thoracic Surgery* ; Ultrafiltration* ; Ventilators, Mechanical ; Water-Electrolyte Balance

3 cases of congenital leukemia, 27 day old female, 1 month old and 6 month old male were presented. We made diagnosis by clinical features as well as peripheral blood and bone marrow studies and autopsy findings. Two of three revealed acute Lymphocytic leukemia and one case revealed acute myelomonocytic leukemia on peripheral blood smear and bone marrow studies.
Autopsy ; Bone Marrow ; Diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Leukemia* ; Leukemia, Myelomonocytic, Acute ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

No abstract available.
Chest Pain* ; Emergencies* ; Emergency Service, Hospital* ; Thorax*

No abstract available.
Phenytoin* ; Stevens-Johnson Syndrome*

Purpose: To analyze the relationship between corneal morphological factors and polysomnographic factors in patients with obstructive sleep apnea (OSA). Methods: In all, 22 eyes of 22 patients with OSA were analyzed retrospectively under specular microscopy. The central corneal thickness (CCT), endothelial cell density (ECD), hexagonal cell percentage, and cell variation coefficient were measured using specular microscopy, and polysomnographic factors including the apnea-hypopnea index (AHI), respiratory disturbance index (RDI), oxygen desaturation index, and lowest O2 saturation were compared and analyzed between the OSA group and a control group consisting of 32 subjects. Additionally, we examined the statistical correlation between retinal nerve fiber layer (RNFL) thickness and the polysomnographic factors for the 12 OSA patients in which the RNFL thickness was measured. Results: The mean CCT and mean ECD were significantly lower in the OSA group than in controls (p = 0.033, p = 0.021, respectively). As the severity of OSA worsened, a significant negative correlation developed, such that the CCT decreased as the AHI and RDI increased (r = -0.519, p = 0.013 and r = -0.542, p = 0.009, respectively); in addition, the ECD decreased as the RDI increased (r = -0.454, p = 0.034). As OSA progressed, the nasal RNFL thickness decreased with the lowest O2 saturation (r = 0.703, p = 0.011). Conclusions CCT and ECD were significantly lower in OSA patients than in controls and there was a significant correlation between corneal morphological factors and polysomnographic factors. Due to the possibility of hypoxia and various ophthalmic clinical diseases associated with OSA, close observation of ophthalmic abnormalities in OSA patients is required.

Purpose: We report a case of xeroderma pigmentosum in a pediatric patient with a progressive pterygium-like lesion.Case summary: A 2-year-old girl with photophobia and localized, scattered, small, round brownish macules on skin areas exposed to the sun visited hospital. During follow-up, at the age of 7, she was diagnosed with xeroderma pigmentosum in Japan, and pigmented freckles on the upper and lower eyelids of both eyes were observed. At the age of 11, a possible medial limbal pingueculum and lower lid telangiectasis of the right eye were observed via slit-lamp examination, and one year later, a pterygium-like lesion and gradual fibrovascular tissue growth were found in the same location of the right eye. At the last visit, the progressive pterygium-like lesion and, lower lid telangiectasis of the right eye, and lid pigmentations of both eyes (xeroderma pigmentosum) were observed. The size of pterygium-like lesion continues to increase, but the patient remains under observation because the lesion was too small to remove. Conclusions We report the first case of xeroderma pigmentosum in a pediatric patient with a progressive pterygium-like lesion that showed age-related degeneration. We suggest that the pterygium-like lesion may reflect the photosensitivity to ultraviolet radiation characteristic of xeroderma pigmentosum.

Purpose: To analyze the relationship between corneal morphological factors and polysomnographic factors in patients with obstructive sleep apnea (OSA). Methods: In all, 22 eyes of 22 patients with OSA were analyzed retrospectively under specular microscopy. The central corneal thickness (CCT), endothelial cell density (ECD), hexagonal cell percentage, and cell variation coefficient were measured using specular microscopy, and polysomnographic factors including the apnea-hypopnea index (AHI), respiratory disturbance index (RDI), oxygen desaturation index, and lowest O2 saturation were compared and analyzed between the OSA group and a control group consisting of 32 subjects. Additionally, we examined the statistical correlation between retinal nerve fiber layer (RNFL) thickness and the polysomnographic factors for the 12 OSA patients in which the RNFL thickness was measured. Results: The mean CCT and mean ECD were significantly lower in the OSA group than in controls (p = 0.033, p = 0.021, respectively). As the severity of OSA worsened, a significant negative correlation developed, such that the CCT decreased as the AHI and RDI increased (r = -0.519, p = 0.013 and r = -0.542, p = 0.009, respectively); in addition, the ECD decreased as the RDI increased (r = -0.454, p = 0.034). As OSA progressed, the nasal RNFL thickness decreased with the lowest O2 saturation (r = 0.703, p = 0.011). Conclusions CCT and ECD were significantly lower in OSA patients than in controls and there was a significant correlation between corneal morphological factors and polysomnographic factors. Due to the possibility of hypoxia and various ophthalmic clinical diseases associated with OSA, close observation of ophthalmic abnormalities in OSA patients is required.

No abstract available.