A teratoma is a germ-cell tumor composed of tissue components representing derivatives of three germ layers. A teratoma in the region of adrenal gland is a rare retroperitoneal tumor. We now report a case of a primary adrenal teratoma. A 38-year-old woman presented with an incidentally detected adrenal mass. The computed tomography scan revealed a 9x8x7.5 cm fat density mass with calcification in the left adrenal gland. The surgically resected tumor was round and well circumscribed and the adrenal gland was present at the periphery of the tumor. The cut surface contained fat tissue and a hair containing cyst. Microscopically, the tumor consisted of adipose tissue, hair, skin appendage, nerve, muscle bundle and bone.
Adipose Tissue ; Adrenal Glands ; Adult ; Female ; Germ Layers ; Hair ; Humans ; Muscles ; Retroperitoneal Space ; Skin ; Teratoma

A teratoma is a germ-cell tumor composed of tissue components representing derivatives of three germ layers. A teratoma in the region of adrenal gland is a rare retroperitoneal tumor. We now report a case of a primary adrenal teratoma. A 38-year-old woman presented with an incidentally detected adrenal mass. The computed tomography scan revealed a 9x8x7.5 cm fat density mass with calcification in the left adrenal gland. The surgically resected tumor was round and well circumscribed and the adrenal gland was present at the periphery of the tumor. The cut surface contained fat tissue and a hair containing cyst. Microscopically, the tumor consisted of adipose tissue, hair, skin appendage, nerve, muscle bundle and bone.
Adipose Tissue ; Adrenal Glands ; Adult ; Female ; Germ Layers ; Hair ; Humans ; Muscles ; Retroperitoneal Space ; Skin ; Teratoma

No abstract available.
Tenosynovitis*

No abstract available.
Lower Extremity*

No abstract available.
Hand Injuries* ; Hand*

PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep (mono or diphasic centrotemporal spikes) and awake state (background slowing). In this study, we analyzed the clinical characteristics of fragile X syndrome patients and observed whether a particular EEG pattern is associated with this syndrome or not. METHODS: 7 cases of fragile X syndrome, diagnosed at Sowha Children's Hospital and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively in terms of typical phenotypes and clinical & EEG characteristics. The patients were diagnosed by Southern blotting and polymerase chain reaction (PCR) method. RESULTS: 1) The subjects were all male and the mean age was 5.8 years old (2Y-11Y). 2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large head are noted in 2/3 of the subject. 3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism are noted in 2/3 of the subject. 4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the presence of seizures. Abnormal findings including centrotemporal sharps and background slowing are noted in one case, each. 5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of affected male and 4 of normal transmitting male were diagnosed. CONCLUSIONS: 1) The typical phenotype of fragile X syndrome is long elongated face, macro-orchidism, large ears and large head. 2) The non-physical characteristics of fragile X syndrome are developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism. 3) The characteristic EEG findings of fragile X syndrome known by literature are noted in 2 among 6 cases, which means the specificity is high even though the sensitivity is low. This allows us to propose this EEG pattern as an important "marker" in the diagnosis of fragile X syndrome. However, the number of the subject is too small to conclude now. Further accumulation of cases is reguired.
Autistic Disorder ; Blotting, Southern ; Diagnosis ; Ear ; Electroencephalography* ; Fragile X Syndrome* ; Head ; Hospitals, General ; Humans ; Intellectual Disability ; Learning Disorders ; Male ; Pathology, Molecular ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Seizures ; Sensitivity and Specificity

No abstract available.
Preimplantation Diagnosis*

Preoperative embolization of hypervascualr brain tumors is known to be an effective method to reduce intraoperative bleeding and to reduce the operative difficulty. The most commonly tumor vessels are branches of the external carotid artery, which are frequently embolized as a preoperative procedure. However, branches from the internal carotid artery, such as the ophthalmic artery, tentorial artery, or cortical branches sometimes feed tumors, but there are some limitations of embolization of branches from the internal carotid artery. In addition, hypervascular tumors are rarely associated with neoplastic aneurysms. Their possible role in producing massive intraoperative hemorrhage has been well recognized. We describe the successful embolization of the tumor vessels from branches of the internal carotid artery and their neovascularization.
Aneurysm ; Arteries ; Brain Neoplasms* ; Brain* ; Carotid Artery, External ; Carotid Artery, Internal* ; Hemorrhage ; Ophthalmic Artery ; Preoperative Care

Purpose: Overweight (OW)/obese girls tend to have an earlier pubertal onset than girls with normal weight. However, only a few studies have reported the progression of puberty in these girls. This study aimed to identify risk factors for rapid pubertal progression in OW/obese girls presenting with precocious breast development. Methods: This retrospective cohort study reviewed the medical records of 110 OW (body mass index [BMI] ≥85th percentile for age and sex) and 213 nonoverweight (NW, BMI <85th percentile for age and sex) girls who presented with breast budding before 8 years of age. OW girls were divided into 2 subgroups: girls with central puberty progression before 9 years of age (OW-RP) and those without (OW-SP). Results: Progression to central puberty before the age of 9 was more common in NW girls than in OW girls (83.8 % vs. 65.2 % in NW vs. OW group, p<0.001), and progression-free survival for 1, 2, and 3 years was higher in the OW group (p<0.001). In a subgroup analysis of OW girls, the OW-RP subgroup had more advanced bone age (BA) at the first visit (p=0.047) and higher initial luteinizing hormone (LH, p=0.010) levels than the OW-SP subgroup. Being NW (p=0.001) and having more advanced BA (p=0.023) at the initial workup were the risk factors for pubertal progression before age 9. Conclusion Pubertal progression seems to be slower in OW girls than in NW girls presenting with precocious breast development. However, it can progress rapidly in OW girls with particularly pronounced BA advancement and high LH levels at the initial workup.

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.
Aneuploidy ; Counseling ; Diagnosis ; DNA ; Down Syndrome ; Female ; Fetus ; Genome ; High-Throughput Nucleotide Sequencing ; Humans ; Korea ; Mass Screening ; Mosaicism* ; Plasma ; Pregnancy* ; Pregnancy, Multiple ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy ; Turner Syndrome*