No abstract available.

No abstract available.
Clubfoot*

No abstract available.
Carcinoma, Basal Cell* ; Mohs Surgery* ; Sutures*

No abstract available.

Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered. Although the examination of relatively large numbers of specific ethnic groups has recently started in regard to inter-ethnic group differences in CNVs, identifying and understanding particular instances of natural selection have not been performed. The traditional FST measure, obtained from differences in allele frequencies between populations, has been used to identify CNVs loci subject to geographically varying selection. Here, we review advances and the application of multinomial-Dirichlet likelihood methods of inference for identifying genome regions that have been subject to natural selection with the FST estimates. The contents of presentation are not new; however, this review clarifies how the application of the methods to CNV data, which remains largely unexplored, is possible. A hierarchical Bayesian method, which is implemented via Markov Chain Monte Carlo, estimates locus-specific FST and can identify outlying CNVs loci with large values of FST. By applying this Bayesian method to the publicly available CNV data, we identified the CNV loci that show signals of natural selection, which may elucidate the genetic basis of human disease and diversity.
Bayes Theorem ; Coat Protein Complex I ; DNA Copy Number Variations ; Ethnic Groups ; Gene Frequency ; Genome ; Humans ; Markov Chains ; Selection, Genetic

Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered. Although the examination of relatively large numbers of specific ethnic groups has recently started in regard to inter-ethnic group differences in CNVs, identifying and understanding particular instances of natural selection have not been performed. The traditional FST measure, obtained from differences in allele frequencies between populations, has been used to identify CNVs loci subject to geographically varying selection. Here, we review advances and the application of multinomial-Dirichlet likelihood methods of inference for identifying genome regions that have been subject to natural selection with the FST estimates. The contents of presentation are not new; however, this review clarifies how the application of the methods to CNV data, which remains largely unexplored, is possible. A hierarchical Bayesian method, which is implemented via Markov Chain Monte Carlo, estimates locus-specific FST and can identify outlying CNVs loci with large values of FST. By applying this Bayesian method to the publicly available CNV data, we identified the CNV loci that show signals of natural selection, which may elucidate the genetic basis of human disease and diversity.
Bayes Theorem ; Coat Protein Complex I ; DNA Copy Number Variations ; Ethnic Groups ; Gene Frequency ; Genome ; Humans ; Markov Chains ; Selection, Genetic

Juvenile granulosa cell tumor is rare but one of the common congenital testicular neoplasms. Although histological features are typical of its ovarian counterpart, testicular juvenile granulosa cell tumor has a distinctly different clinical presentation. We report a case of juvenile granulosa cell tumor arising in the cryptochid testis of a 4-day-old newborn. A 6 5 5 cm sized multilocular cyst containing thick, mucinous fluid was found in the peritoneal cavity. The external surface of the cyst was smooth and the septae were relatively thin. The cyst consisted of numerous mucin-filled, cystic follicles lined by cells having vacuolated cytoplasm and round to oval dark nuclei without grooves. Cells resembling granulosa cells of an ovarian follicle were also observed in the intervening stroma forming irregular solid nests.
Cryptorchidism* ; Cytoplasm ; Female ; Granulosa Cell Tumor* ; Granulosa Cells* ; Humans ; Infant, Newborn ; Male ; Mucins ; Ovarian Follicle ; Peritoneal Cavity ; Testicular Neoplasms ; Testis

Pleural involvement in paragonimiasis is relatively common, either unilateral or bilateral, and may occur without pulmonary parenchymal infiltrates. Common radiologic findings of pleural paragonimiasis are pleural effusion, pneumothorax, hydropneumothorax, empyema and pleural thickening. However, pleural calcification as a manifestation of paragonimiasis is a rare condition. We report two cases of paragonimiasis manifested only as pleural calcifications which were confirmed pathologically.
Empyema ; Hydropneumothorax ; Paragonimiasis* ; Pleural Effusion ; Pneumothorax

PURPOSE: To determine the value of thin-section CT in the diagnosis of nasal bone fractures. MATERIALS AND METHODS: We evaluated the thin-section CT scans of 40 patients with nasal bone fracture. CT scans were obtained with both axial and coronal planes, 1.5mm collimation with 2mm interval, and 9.6cm field-of-view. The axial scan plane was kept parallel to the orbitomeatal line from the nasion to the lower limit of the nose and the coronal plane was kept perpendicular to the axial plane. The data were reconstructed with bone algorithm. Nasal bone fracture was classified into 1 of 3 types on thin section CT:(I) simple fracture;(ll) simple fracture with displacement;(III) comminuted fracture. Associated facial bone injuries were also evaluated Simple radiographs of nasal bone were reviewed for comparison. RESULTS: Six patients had simple fracture, 10 patients had simple fracture with displacement, and 24 patients had comminuted fracture. Twenty-six patients had associated facial bone injuries which included fracture of nasal septum (n=15), fracture of frontal process of maxilla (n=9), fracture of ethmoid (n=6), widening of nasofrontal suture (n=5), and fracture of nasolacrimal duct (n=2). In 15 of 40 patients, CT could identify nasal bone fractures not detected on simple radiographs. CONCLUSION: Thin-section CT is a valuable aid in the evaluation of nasal bone fracture for accurate identification, nature, and combined facial injury.
Diagnosis ; Facial Bones ; Facial Injuries ; Fractures, Comminuted ; Humans ; Maxilla ; Nasal Bone* ; Nasal Septum ; Nasolacrimal Duct ; Nose ; Sutures ; Tomography, X-Ray Computed

BACKGROUND: In neonatal respiratory distress syndrome patients, various types of pulmonary air leak contributes to elevate morbity and mortality. Although early surgical interventions can provide better results in several cases, whole clinical outcomes are poor. This study was designed to investigate the clinical aspects of pulmonary air leak in the neonatal respiratory distress syndrome patients and major contributing factors to mortality. MATERIAL AND METHOD: We retrospectively evaluated 48 cases of pulmonary air leak in the neonatal respiratory distress syndrome patients from September 1994 to May 1997. RESULT: There were 15 cases of primary and 33 cases of secondary pulmonary air leakages. The prominent manifestations were pure interstitial emphysema in 19 cases(39.9%) and combined pneumothorax in 19 cases(39.9%). In clinical aspects, normal birth weight was dominant(83.4%), the onset occurred within 24 hours was in 28 cases(58.8%). The pulmonary diseases were meconium aspiration syndrome(25.2%) and hyaline membrane disease(33.2%). The overall hospital mortality was 25.2%, and the majority were hyaline membrane diseases. CONCLUSION: Although the overral mortality rate of these diseases were high, more detailed studies about immediate treatement, perinatal prevention, intensive care to geriatric problems were needed individually to improve outcomes.
Birth Weight ; Emphysema ; Hospital Mortality ; Humans ; Hyalin ; Hyaline Membrane Disease ; Infant, Newborn ; Critical Care ; Lung Diseases ; Meconium Aspiration Syndrome ; Membranes ; Mortality ; Pneumothorax ; Respiratory Distress Syndrome, Newborn* ; Retrospective Studies