Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
Aorta ; Aortic Stenosis, Supravalvular ; Arrhythmias, Cardiac ; Arteries ; Autopsy* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiac Output ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Coronary Stenosis ; Coronary Vessels ; Death, Sudden ; Elastic Tissue ; Elastin ; Heart Murmurs ; Heart Septal Defects, Atrial ; Humans ; Hypertrophy, Right Ventricular ; Infant* ; Intellectual Disability ; Loss of Heterozygosity ; Male ; Myocardial Ischemia ; Pulmonary Valve Stenosis ; Renal Artery ; Renal Artery Obstruction ; Vaccination ; Williams Syndrome*

Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
Aorta ; Aortic Stenosis, Supravalvular ; Arrhythmias, Cardiac ; Arteries ; Autopsy* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiac Output ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Coronary Stenosis ; Coronary Vessels ; Death, Sudden ; Elastic Tissue ; Elastin ; Heart Murmurs ; Heart Septal Defects, Atrial ; Humans ; Hypertrophy, Right Ventricular ; Infant* ; Intellectual Disability ; Loss of Heterozygosity ; Male ; Myocardial Ischemia ; Pulmonary Valve Stenosis ; Renal Artery ; Renal Artery Obstruction ; Vaccination ; Williams Syndrome*

Kaposi's sarcoma was first descrided by Kaposi in 1872 as an idiopathic multiple hemorrhagic sarcoma. Its clinical features revealed to be erythematous red or purple macule started out, and developing into palpable dome-shaped nodules. Etiology is not defined to detail at present. Kaposi's sarcoma is classified to 4 categories; Classical, African, Epidemic and Transplant type. Epidemic or AIDS categories is found approximately 20 % of all AIDS and has strong predilection for head and neck region. The first case of Kaposi's sarcoma observed in patients with kidney transplants was reported in 1969. Kaposi's sarcoma now accounts for 5% of all tumors associated with transplanted patients and alteration of the immunosuppression may have played a key role in these recipients. The most common site of Kaposi's sarcoma in transplanted patients are extremities but rare in head and neck area. We report a case of Kaposi's sarcoma on the hard palate in the kidney transplantation patient.
Extremities ; Head ; Humans ; Immunosuppression ; Kidney ; Kidney Transplantation ; Mouth* ; Neck ; Palate, Hard ; Sarcoma ; Sarcoma, Kaposi*

OBJECTIVE: To investigate pathologic discrepancies between colposcopy-directed biopsy (CDB) of the cervix and loop electrosurgical excision procedure (LEEP) in women with cytologic high-grade squamous intraepithelial lesions (HSILs).METHODS: We retrospectively identified 297 patients who underwent both CDB and LEEP for HSILs in cervical cytology between 2015 and 2018, and compared their pathologic results. Considering the LEEP to be the gold standard, we evaluated the diagnostic performance of CDB for identifying cervical intraepithelial neoplasia (CIN) grades 2 and 3, adenocarcinoma in situ, and cancer (HSIL+). We also performed age subgroup analyses.RESULTS: Among the study population, 90.9% (270/297) had pathologic HSIL+ using the LEEP. The diagnostic performance of CDB for identifying HSIL+ was as follows: sensitivity, 87.8%; specificity, 59.3%; balanced accuracy, 73.6%; positive predictive value, 95.6%; and negative predictive value, 32.7%. Thirty-three false negative cases of CDB included CIN2,3 (n=29) and cervical cancer (n=4). The pathologic HSIL+ rate in patients with HSIL− by CDB was 67.3% (33/49). CDB exhibited a significant difference in the diagnosis of HSIL+ compared to LEEP in all patients (p<0.001). In age subgroup analyses, age groups <35 years and 35–50 years showed good agreement with the entire data set (p=0.496 and p=0.406, respectively), while age group ≥50 years did not (p=0.036).CONCLUSION: A significant pathologic discrepancy was observed between CDB and LEEP results in women with cytologic HSILs. The diagnostic inaccuracy of CDB increased in those ≥50 years of age.
Adenocarcinoma in Situ ; Biopsy ; Cervical Intraepithelial Neoplasia ; Cervix Uteri ; Colposcopy ; Conization ; Dataset ; Diagnosis ; Early Detection of Cancer ; Female ; Humans ; Papanicolaou Test ; Retrospective Studies ; Sensitivity and Specificity ; Squamous Intraepithelial Lesions of the Cervix ; Uterine Cervical Neoplasms

OBJECTIVE: To investigate pathologic discrepancies between colposcopy-directed biopsy (CDB) of the cervix and loop electrosurgical excision procedure (LEEP) in women with cytologic high-grade squamous intraepithelial lesions (HSILs). METHODS: We retrospectively identified 297 patients who underwent both CDB and LEEP for HSILs in cervical cytology between 2015 and 2018, and compared their pathologic results. Considering the LEEP to be the gold standard, we evaluated the diagnostic performance of CDB for identifying cervical intraepithelial neoplasia (CIN) grades 2 and 3, adenocarcinoma in situ, and cancer (HSIL+). We also performed age subgroup analyses. RESULTS: Among the study population, 90.9% (270/297) had pathologic HSIL+ using the LEEP. The diagnostic performance of CDB for identifying HSIL+ was as follows: sensitivity, 87.8%; specificity, 59.3%; balanced accuracy, 73.6%; positive predictive value, 95.6%; and negative predictive value, 32.7%. Thirty-three false negative cases of CDB included CIN2,3 (n=29) and cervical cancer (n=4). The pathologic HSIL+ rate in patients with HSIL− by CDB was 67.3% (33/49). CDB exhibited a significant difference in the diagnosis of HSIL+ compared to LEEP in all patients (p<0.001). In age subgroup analyses, age groups <35 years and 35–50 years showed good agreement with the entire data set (p=0.496 and p=0.406, respectively), while age group ≥50 years did not (p=0.036). CONCLUSION A significant pathologic discrepancy was observed between CDB and LEEP results in women with cytologic HSILs. The diagnostic inaccuracy of CDB increased in those ≥50 years of age.

No abstract available.
Ulcer*

A 20-year-old man developed necrotizing fasciitis of the left chest wall complicating acupuncture. Necrotizing fasciitis is a highly morbid soft tissue infection that rarely involves the upper torso. In the past, there has been few report on necrotizing fasciitis complicating acupunture in the English literature (based on a MEDLINE search covering 1966 to 2005). We present this extremely unusual case of a patient after taking acupuncture who survived severe necrotizing fasciitis of the chest wall following wide debridement of the necrotic tissue and broad-spectrum antibiotic therapy.
Acupuncture* ; Debridement ; Fasciitis, Necrotizing* ; Humans ; Soft Tissue Infections ; Thoracic Wall* ; Thorax* ; Torso ; Young Adult

The zygomaticomaxillary complex (ZMC) functions as a buttress for the face and is the cornerstone to a person's aesthetic appearance, by both setting the midfacial width and providing prominence to the cheek. Malar deficiency is often acquired by blunt injury incurred in a traumatic accident, resulting in ZMC fracture. A 48-year-old male patient presented a right ZMC fracture after contusion injury by a baseball. He only received conservative management and later he suffered discomfort during mouth opening at the moment of mastication, due to trismus involving the temporomandibular joint. In the current case, we describe a surgical technique, by which the malar body is shifted anteriorly and laterally after combined oblique-vertical osteotomy. The technique presented, eventually restored the former aesthetic position of the malar complex and symmetry, and, moreover, improved mastication function.
Baseball ; Cheek ; Contusions ; Fractures, Malunited ; Humans ; Male ; Mastication ; Middle Aged ; Mouth ; Osteotomy* ; Temporomandibular Joint ; Transplants* ; Trismus ; Wounds, Nonpenetrating

STATEMENT OF PROBLEM: It is important to have a correct presurgical treatment plan before any implant surgery. It must contain substantial information about the patient concerned. However, the standard classification only notifies the dentist about various structural, pathological and physiological dimensions. Due to diverse structure of the jaw bone, current standard classification does not tell spatial dimensions of the available bone for implant insertion sites. PURPOSE OF STUDY: The purpose of this study is to report the establishment of the systematic implant treatment plan and its clinical treatment using Implan(R) program which is based on ASCIi-classification that is available for future diagnosis and scale of treatment and for systematic implant insertion. RESULTS: By assisting the systemic measurement of the available alveolus dimension during implant surgery, it was easy to set initial implant treatment plan. CONCLUSION: Using Implan(R) program which is based on ASCIi-classification system that allows the establishment of systemic implant treatment plan and successful clinical performance, it was possible to establish the founding of initial implant treatment plan, the acquisition of information, and the systematization of documentation.
Classification ; Dentists ; Diagnosis ; Humans ; Jaw

Chordoma is a relatively rare primary osseous tumor arising from the remnants of the primitive notochord and located along the axial skeleton. It is characterized by is slow growth, hight frequency to invade and destroy bone by direct extension, local recurrence after surgical excision and distant metastasis. It accounts for 1 to 4% of all malignant bone tumors. Approximately 50% of chordomas arise in the sacrococcygeal region, 35% at the clivus, and 15% in the vertebral column above the sacrum. The tumor tends to predominate in males, with roughly a 2 : 1 male-female ratio, and occurs predominantly in the fifth through seventh decades of life. Pain is the most common symptom in the chordomas of the spine, and symptoms of constipation, urinary frequency, or nerve root compression may appear before patients present to their physician. Many patients, therefore, are misdiagnosed as having degenerative disc disease, coccygodynia, or hemorrhoids. A firm, fixed presacral mass can usually be palpated on rectal examination. Surgical extirpation of the tumor is the only curative procedure and the indicated surgical procedure for sacrococcygeal chordoma is a high sacral amputation, maintaining a cuff of normal tissue over the tumor. Radiation therapy seems to be effective with adjuvant or palliative aims. We report a case of large sacral chordoma detected in a 60-year-old female in the course of a clinical examination, which was successfully treated by high sacral resection by a posterior approach and repair of the sacral bone defect with bone cement.
Amputation ; Chordoma* ; Constipation ; Cranial Fossa, Posterior ; Female ; Hemorrhoids ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis ; Notochord ; Radiculopathy ; Recurrence ; Sacrococcygeal Region ; Sacrum ; Skeleton ; Spine