No abstract available.
Breast* ; Female ; Mammaplasty* ; Mastectomy*

Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered trio genotypes that encompass three generations are available, it narrows a recombination event down to a region between two consecutive heterozygous markers. In addition, the phase information that is inferred from the upper trio that is formed by one of the parents and grandparents can be propagated to phase the genotypes of the lower trio that is formed by the parents and an offspring.
Boidae ; Family Characteristics ; Genotype ; Humans ; Parents ; Pedigree ; Recombination, Genetic ; Software ; Wills

Genetic causes of developmental and epileptic encephalopathy (DEE) have been rapidly uncovered from mid-2010s. The mutations of gene enconding calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) are recently detected in DEE, which gene is already known well in familial hemiplegic migrine type 1 or episodic ataxia type 2. Ketogenic diet therapy (KDT) is effective in some DEE, which data is short in CACNA1A encephalopathy. A 3-month-old male with global developmental delay and multidrug-resistant focal seizures was diagnosed as epilepsy of infancy with migrating focal seizures (EIMFS). Brain magnetic resonance imaging and metabolic screening were all normal. Whole exome sequencing revealed two variants of CACNA1A : c.899A>C, and c.2808del that is from his mother. His seizures disappeared within 3 days whenever on KDT, which recurred without it. To our knowledge, this rare case of EIMFS with novel mutations of CACNA1A, is the first report in CACNA1A encephalopathy becoming seizure-free on KDT.

Objectives: This study aimed to investigate the efficacy of postoperative submucosal injection of hyaluronidase (HUD) for reducing sequelae andquality of life (QOL) after mandibular third molar (M3M) surgery. Materials and Methods: Participants with bilateral impacted M3M underwent surgical extraction with a split-mouth randomized controlled studydesign. M3M were removed by the same surgeon in 2 sessions, one a control and the other experimental. Submucosal injection of HUD was performedin the experimental session and submucosal injection of saline in the control session. Mouth opening, facial swelling, and pain intensity were measured before surgery, and then 2 and 7 days after surgery. The QOL of participants following surgery was evaluated by means of a patient-centered outcome questionnaire (PCOQ). Results: A total of 36 patients was included in the final data analysis. There was a significant reduction in the maximal mouth opening and postoperative pain in the experimental side at the 2 and 7 days after surgery (P<0.05), and a remarkable difference in facial swelling was reported on the experimental side 7 days after surgery (P<0.05). The PCOQ demonstrated that participants reported less pain and swelling on the experimental side. Conclusion The present study provides clinical evidence that submucosal administration of HUD immediately after M3M surgery reduced postop-erative discomfort and improved patients’ QOL.

The survival rate of cancer patients is increasing owing to the early diagnosis and treatment methods. Radiotherapy and chemotherapy may cause serious complications, such as ovarian failure and infertility. In particular, preservation of fertility in women of reproductive age with cancer could improve their quality of life as well as reduce social and psychological pain.Current Concepts: Embryo or oocyte cryopreservation is a method of fertility preservation; however, it cannot be utilized by all women with cancer because of the complications of the condition and treatment method. Ovarian tissue cryopreservation and transplantation enables fertility preservation in those needing immediate cancer treatment, such as chemotherapy or radiotherapy, or those unqualified for ovarian stimulation. A recent review reported that frozen-thawed ovarian transplantation led to approximately 130 live births with a conception rate of approximately 30%. Endocrine function recovery occurred in 92.9% of the patients between 3.5 and 6.5 months after transplantation.Discussion and Conclusion: In this study, we introduced various methods and strategies for improving the outcomes of ovarian tissue cryopreservation and transplantation. These results could serve as a reference for patients and clinicians to choose the best options for fertility preservation based on the patient’s current situation and condition.

The frontal cephalometric analysis has not gained its importance in maxillofacial surgery compared to the lateral cephalometric analysis. In general, the frontal cephalometric analysis is practicable in providing an accurate measurement of the horizontal position and the width of maxilla, zygoma, and mandible. It also provides an assessment in the horizontal and vertical asymmetry of the face. With this knowledge, it is reasonable to regard the frontal cephalometric analysis as a valuable tool in making accurate diagnosis, planning of operation and evaluation of the results for sophisticated maxillofacial surgery. In addition, a recent development of computer software provides an extra benefit in diagnosing and performing surgery which has been frequently used in the dental field, in contrast to its limited application in the plastic surgery. The authors measured the frontal cephalometry of 115 patients who had maxillofacial surgery in our hospital from January 2000 to October 2002. The total 124 operative procedures for the patients are as follows: 58 was angle contouring; 22 zygomatic reduction; 16 genioplasty; 11 sagital split ramus osteotomy; 4 anterior segmental osteotomy; 10 distraction osteogenesis, and 6 was two-jaw surgery. The detailed procedure of the measurement is as follows: Digital scanning of cephalometric films; Presentation of the digital images on computer software (Vceph(R), CyberMed Inc. Korea); Registration of 43 anatomic landmarks such as zygomatic arch, gonion, antegonion, jugular process, and the automatic analysis with a custom-modified computer software with 27 items including midline analysis, facial width and height analysis, ratio analysis, symmetry analysis, and mandibular analysis. The analyzed data can be depicted as in the figure and chart. With above the mentioned automatic analysis, we found it to be effective, time-saving and accurate in the diagnosis of the facial asymmetry and estimation of the ratio of the facial bone. In this study, the authors have devised the frontal cephalometric analysis for the plastic and reconstructive maxillofacial surgery and its automatically analyzed measurements by using the computer software. This modified frontal cephalometric analysis has proved to be useful and efficient for diagnosis, operation planning and evaluation of the result in maxillofacial surgery.
Anatomic Landmarks ; Cephalometry ; Diagnosis ; Facial Asymmetry ; Facial Bones* ; Genioplasty ; Humans ; Mandible ; Maxilla ; Osteogenesis, Distraction ; Osteotomy ; Surgery, Oral* ; Surgery, Plastic ; Surgical Procedures, Operative ; Zygoma

BACKGROUND: To evaluate the effects of inhaled nitric oxide (NO) and sphingosine 1-phosphate (S1P) as potential therapeutic agents of acute lung injury, we analyzed the morphology in vivo of the pulmonary microstructure using intravital videomicroscopy in a rat model of acute lung injury. MATERIAL AND METHOD: Sprague Dawley rats were divided into five groups: a control group that underwent normal saline aspiration, an acute lung injury (ALI) group that underwent hydrochloric acid aspiration, and three treatment groups that underwent hydrochloric acid aspiration and were administered therapeutic agents- the S1P group, the NO group, and the S1P+NO group (n=7 per group). To quantify alveolar compliance and interstitial edema, the diameters of all measurable alveoli and interalveolar septa were averaged at one and two hours after aspiration. Alveolar compliance was determined according to diameter changes during the respiratory cycle and the change in tidal volume. RESULT: At two hours after aspiration, the mean alveolar compliance (% change) in the ALI group decreased significantly versus the control group of rats (respiratory cycle: 1.9% for the ALI group vs 6.5% for the control group, p=0.03; tidal volume: 3.2% for the ALI group vs 9.1% for the control group, p=0.003) and versus the NO group (tidal volume: 3.2% for the ALI group vs 16.9% for the NO group, p=0.001). At two hours after aspiration, the mean interalveolar septal thickness in the NO group tended to be smaller as compared to that in the ALI group (15.2micrometer for the ALI group vs 12.3micrometer for the NO group, p=0.06). S1P did not exert a significant effect on the pulmonary microstructure of the injured rat lung. CONCLUSION: Improved alveolar compliance and reduced interstitial edema, observed by intravital videomicroscopy, suggest that inhaled NO ameliorates lung injury.
Acute Lung Injury ; Animals ; Compliance ; Edema ; Hydrochloric Acid ; Lung ; Lung Injury ; Lysophospholipids ; Microscopy, Video ; Nitric Oxide ; Rats ; Rats, Sprague-Dawley ; Sphingosine ; Tidal Volume

Acid food indicators can be used as pH indicators for evaluating the quality and freshness of fermented products during the full course of distribution. Iron oxide particles are hardly suspended in water, but partially or completely agglomerated. The agglomeration degree of the iron oxide particles depends on the pH. The pH-dependent particle agglomeration or dispersion can be useful for monitoring the acidity of food. The zeta potential of iron oxide showed a decreasing trend as the pH increased from 2 to 8, while the point of zero charge (PZC) was observed around at pH 6.0-7.0. These results suggested that the size of the iron oxide particles was affected by the change in pH levels. As a result, the particle sizes of iron oxide were smaller at lower pH than at neutral pH. In addition, agglomeration of the iron oxide particles increased as the pH increased from 2 to 7. In the time-dependent aggregation test, the average particle size was 730.4 nm and 1,340.3 nm at pH 2 and 7, respectively. These properties of iron oxide particles can be used to develop an ideal acid indicator for food pH and to monitor food quality, besides a colorant or nutrient for nutrition enhancement and sensory promotion in food industry.
Food Industry ; Food Quality ; Hydrogen-Ion Concentration ; Iron* ; Nutritive Value* ; Particle Size ; Water

Folliculocystic and collagen hamartoma is a newly described complex hamartoma characterized by abundant collagen deposition, concentric perifollicular fibrosis, and keratin- filled infundibular cysts that are visible on histopathological examination. Here, we report the case of a 19-year-old Korean man who had large brownish infiltrated plaques with numerous follicular comedo-like openings and subcutaneous cystic masses on his right temporal scalp and ear since birth. Histopathological examination showed abundant collagen deposition in the dermis that extended up to the subcutaneous fat layer, multifocal infundibular cysts packed with keratin, and perifollicular inflammation and fibrosis. Hence, we describe a new type of hamartoma with folliculocystic and collagen components but without tuberous sclerosis.
Collagen* ; Dermis ; Ear ; Fibrosis ; Hamartoma* ; Humans ; Inflammation ; Parturition ; Scalp ; Subcutaneous Fat ; Tuberous Sclerosis ; Young Adult

Folliculocystic and collagen hamartoma is a newly described complex hamartoma characterized by abundant collagen deposition, concentric perifollicular fibrosis, and keratin- filled infundibular cysts that are visible on histopathological examination. Here, we report the case of a 19-year-old Korean man who had large brownish infiltrated plaques with numerous follicular comedo-like openings and subcutaneous cystic masses on his right temporal scalp and ear since birth. Histopathological examination showed abundant collagen deposition in the dermis that extended up to the subcutaneous fat layer, multifocal infundibular cysts packed with keratin, and perifollicular inflammation and fibrosis. Hence, we describe a new type of hamartoma with folliculocystic and collagen components but without tuberous sclerosis.
Collagen* ; Dermis ; Ear ; Fibrosis ; Hamartoma* ; Humans ; Inflammation ; Parturition ; Scalp ; Subcutaneous Fat ; Tuberous Sclerosis ; Young Adult