Testicular regression syndrome may be better known as vanishing testis syndrome to physicians. Such individuals are genetically male(46,XY), presenting with unilateral or bilateral absence of recognizable testis structures and absence of the Mullerian duct system. There is a wide spectrum of phenotypes depending on the stage of male embryogenesis at which testicular function ceased. We experienced a case of testicular regression syndrome presenting labial fusion at birth and report with the brief review of related literature.
Disorders of Sex Development ; Embryonic Development ; Female ; Humans ; Male ; Parturition ; Phenotype ; Pregnancy ; Testis

BACKGROUND: Each kind of human cell has its own characteristic morphological and functional property. In the skin, epidermal cells, including keratinocyte and melanocyte, also have their own functional characteristics. Thus, it is expected that there are some different responses to external stimuli, such as ionizing radiatio,, free radicals, and cytokines between these cells. OBJECTIVE AND METHODS: To im estigate whether there are different effects of UV light on the viability of cultured human ker tinocytes and rnelanocytes. Cultured human keratinocytes and melanocytes are irradiated by UVB at 5, 25, 50, and 100mJ/cm, and examined by Methylthiazole tetrazollium assay at 0, 1, 3, 6, 24, 48, and 72 hours after UVB exposure. RESULTS: 1. The effects on viability according to the doses of UVB are as follows: 1) In the keratinocytes, the viability was increased in most of the UVB exposure groups within 24 hours after UVB exposure, and was significantly increased at 25, 50, and 100mJ/cm of UVB at 3 hours after UVB exposur.(p<0.05). However, the viability was significantly decreased at relatively high doses of UVB (50, 100mJ/cm) from 48 hours after UVB exposure (p<0.05). 2) In the melanocytes, the viability was decreased in all of the UVB exposure groups within 3 hours, and was significantly decreased in all of the UVB exposure groups at, 1 hour after UVB exposure (p<0.05). The viability was increased from 6 to 24 hours, which was significantly decreased at 100mJ/cm of UVB from 48 hours after UVB exposure (p<0.05). 2. The effects on viability according to the time after UVB exposure at the same dose of UUB In both cells, the viability was increased as time went by. The slopes of the viability curve gradually decreased according to the increment of UVB doses. CONCLUSION: The viability of keratinocyte was decreased at 50mJ/cm of UVB which melanocyte did not show decrease. Melanocyte was more easily damaged than keratinocyte in relatively earlier time period after UVB exposure. These results suggest that the change of viability in cultured keratinocyte and melanocyte after UVB exposure at the dose of less than 100mJ/cm is related to the time course after UVB exposure as well as to the UVB dose.
Cytokines ; Free Radicals ; Humans* ; Keratinocytes* ; Melanocytes* ; Skin ; Ultraviolet Rays

Vitiligo is an acquired systemic disease of the skin characterized by circumscribed patches of complete pigment loss due to destruction of melanocytes. A 28-year old male patient presented with generalized depigmented patchs. We performed microscopic studies of cultured melanocytes from this patient and compared them with those of normal neonatal foreskin. Phase contrast microscopic findings revealed no difference between the two groups of melanocytes, but transmission electron microscopic findings showed dilated circular rough endoplasmic reticulum in cultured melanocytes from our vitiligo patient. We could observe the innate cellular structural aberration of melanocytes from the vitiligo subject.
Adult ; Endoplasmic Reticulum, Rough ; Foreskin ; Humans* ; Male ; Melanocytes* ; Skin ; Vitiligo*

Buschke-Lowenstein tumor is a rare disease in the category of designated as verrucous carcinoma characterized by its invasive downward penetration of underlying tissues in the perineum and perianal regions. Viruses, unclean sanitation and cytotoxic immune reaction have been proposed as the etiology of the tumor. However, among all the causes, recent studies have emphasized on the associaton of the tumor and human papilloma virus (HPV). Expecially, HPV also has been discovered in several cutaneous and anogenital lesions of solid organ transplant recipients. We herein report a case of Buschke-Lowenstein tumor in a renal transplant recipient with HPV 6 and 16 coinfection proved by HPV genotyping of DNA extracted from the biopsy specimen of the tumor.
Biopsy ; Buschke-Lowenstein Tumor* ; Carcinoma, Verrucous ; Coinfection ; DNA ; Human papillomavirus 6 ; Humans ; Papilloma ; Perineum ; Rare Diseases ; Sanitation ; Transplantation* ; Transplants

CT has facilitated early recognition and treatment of focal brain injuries in patients with head trauma. However. CT shows relatively low sensitivity in identifying nonhemorrhagic contusion and injuries of white matter. MR is known to be superior to CT in detection of which matter injuries, such as diffuse axonal injury. MR imaging in 14 cases of diffuse axonal injury on 2.0T was studied. The corpus callosum, especially the body portion, was the most commonly involved site. The lesions ranged from 5 to 20 mm in size with ovoid to elliptical shape. T2WI was the most sensitive pulse sequence in detecting lesions such as white matter degeneration, hemorrhagic and nonhemorrhagic contusion. The lesions were nonspecific as high and low signal intensities on T2WI and T1WI respectively. CT showed white matter abnormality in only 1 case of 14 cases. We propose MR imaging as the primary imaging procedure for the detection of diffuse axonal injury because of its multiplanar capabilities and higher sensitivity.
Brain Injuries ; Contusions ; Corpus Callosum ; Craniocerebral Trauma ; Diffuse Axonal Injury* ; Humans ; Magnetic Resonance Imaging* ; White Matter

Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and restricted, repetitive patterns of behavior and interest. Sleep problems are not uncommon in children with autism spectrum disorders. Symptoms of insomnia are the most frequent sleep problems in individuals with ASD. Sleep problems can cause significant difficulties in the daily life of children with ASD and their families. Genetic factor, deregulations of melatonin synthesis, extraneous environmental stimuli and psychiatric and medical conditions may cause sleep problems. The first line treatment of sleep problems in ASD includes managements for potential contributing factors and parent education about sleep hygiene care for child and behavioral therapy. Supplementation with melatonin may be effective before considering other medications, such as risperidone, clonidine, and mirtazapine.
Autistic Disorder* ; Child ; Autism Spectrum Disorder* ; Clonidine ; Education ; Genetics ; Humans ; Hygiene ; Melatonin ; Parents ; Risperidone ; Sleep Initiation and Maintenance Disorders

No abstract available.
Depression* ; Humans ; Inpatients*

No abstract available.
Depression* ; Humans ; Inpatients*

No abstract available.
Hand*

No abstract available.
Animals ; Asian Continental Ancestry Group* ; Cricetinae ; Cricetulus* ; Female ; Humans* ; Ovary*