Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.

Intramuscular hemangioma (IMH) is a rare, benign vascular lesion that frequently develops within skeletal muscles. Preoperatively, accurate diagnosis of IMH is often extremely difficult because of nonspecific clinical findings and the inaccuracy of fine-needle aspiration cytology. IMH is suspected in only 8% of preoperative diagnoses before surgical exploration. Here, we report a case of a 44-year-old man with a huge IMH in the anterior scalene muscle that was preoperatively diagnosed using ultrasonography-guided core needle biopsy, and was successfully treated based on preoperative clinical information.
Adult ; Angiography ; Biopsy, Fine-Needle ; Biopsy, Large-Core Needle* ; Diagnosis ; Hemangioma* ; Humans ; Muscle, Skeletal ; Neck

Background: and Purpose: In this study we evaluated the relationship between amyloid-beta (Aβ) deposition and 3 aspects of sleep quality in a group of clinically diagnosed Alzheimer's disease (AD) patients. Methods: We used self-report questionnaires to assess the quality of sleep using 3 previously established surveys: the Glasgow Sleep Effort Scale (GSES), the Pittsburgh Sleep Quality Index (PSQI), and the Morningness-Eveningness Questionnaire (MEQ). These questionnaires focused on the sleep effort, sleep efficiency, and circadian rhythm patterns of each participant. Also, we evaluated the regional distribution of Aβ in the brain by amyloid positron emission tomography-computed tomography (PET-CT) standardized uptake value ratios (SUVRs) in healthy normal (HN), mild cognitive impairment (MCI), and AD dementia groups. The MCI and AD dementia groups were combined to form the group with cognitive impairment due to AD (CIAD). Results: GSES and MEQ scores differed significantly between the HN, MCI, and AD dementia groups (p<0.037), whereas PSQI scores were similar across the groups (p=0.129). GSES and MEQ scores also differed between the HN and CIAD groups (p<0.018). Circadian rhythm scores positively correlated with amyloid PET-CT SUVR in posterior cingulate cortices (p<0.049). Conclusions Sleep effort and abnormal shifts in circadian rhythm were more significant in the CIAD group than in the HN group. At the same time, HN subjects had minimal sleep disturbance, irrespective of clinical status. Thus, alterations in circadian rhythm may be indicative of neurodegeneration due to Aβ deposition.

OBJECTIVES: Acinic cell carcinoma (AciCC) is a rarely encountered malignancy in parotid gland. Because AciCC is rare and was recently recognized as the entity of malignancy, AciCC has been difficult to study. We aimed to analyze the diagnosis and treatment experience for this malignancy in our hospital. METHODS: We retrospectively reviewed medical records of the 20 patients with AciCC of parotid gland diagnosed from 1990 to 2009. The preoperative computed tomography scan, preoperative fine needle aspiration cytology (FNAC) and intraoperative frozen section results were compared with the final diagnosis. The survival and recurrence were analyzed with the cancer stages and treatment modalities. RESULTS: There were 10 males and 10 females, with a mean age of 44.4 years, ranging 8-77 years. The AJCC tumor stage distributions of the patients were 70%, 15%, and 15% for stages I, II, and IV, respectively. The sensitivity of FNAC and intraoperative frozen section was 26.7% and 50.0% respectively. The 10-year survival rate was 90.9% with a mean follow-up of 111 months, ranging 17-251 months. The 10-year disease free survival rate was 74.2% and the mean duration of recurrence from initial surgery was 92.3 months. CONCLUSION: AciCC of the parotid gland is a rare malignancy that has features of less aggressive behavior, and good prognosis. Intraoperative frozen section examination may be helpful in the diagnosis of AciCC of the parotid gland because of the low sensitivity of preoperative computed tomography scan and FNAC. Surgery with adjuvant postoperative radiotherapy is satisfactory for disease control.
Acinar Cells ; Biopsy, Fine-Needle ; Carcinoma, Acinar Cell ; Disease-Free Survival ; Female ; Follow-Up Studies ; Frozen Sections ; Humans ; Male ; Medical Records ; Parotid Gland ; Parotid Neoplasms ; Prognosis ; Recurrence ; Retrospective Studies ; Salivary Gland Neoplasms ; Survival Rate

BACKGROUND AND OBJECTIVES: Although suspension laryngoscopy is a very common procedure in the otolaryngoloical field and suspension force (Fs) is suspected to be related with the complications or laryngeal exposure, Fs has not been objectively measured yet. The objective of this study is to measure suspension force continuously during suspension laryngoscopy. SUBJECTS AND METHOD: Sixteen patients who had undergone laryngoscopic surgery were evaluated. The value measured with a load cell during the procedure was converted to Fs with calculation. The maximum force (Fsmax) and the mean force (Fsmean) were evaluated. The angle between the laryngoscope and the chest holder(angle alpha), and the angle between the chest holder and the horizontal plane (angle beta) were gauged. RESULTS: The mean values of Fsmax and Fsmean were 14.2 and 25.5 kgf, respectively. The mean values of angle alpha and angle beta were 124.0+/-4.3 degrees, and 19.0+/-2.6 degrees, respectively. CONCLUSION: The continuous measurement of the suspension force was executed successfully and quantitatively with a simple method.
Humans ; Laryngoscopes ; Laryngoscopy* ; Methods ; Thorax