Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection being the face, trunk, and extensor surfaces of the extremities. Histologically, the lesions exhibit ill-defined dermal tumors with interlacing fascicles of spindle cells. Some genodermatoses are characterized by the development of visceral tumors and cutaneous leiomyomatosis such as Reed’s syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC). A 55-year-old male presented with reddish-brown papules and nodules on the face and upper back, accompanied by sharp episodic pain on the face. He had undergone nephrectomy for renal cancer 9 years ago, and his younger brother had similar cutaneous manifestation. Histopathologic findings were consistent with pilar leiomyoma, showing bundles of smooth muscle tumors in the dermis. Based on the clinical information including clinical features, past medical history, and family history, HLRCC was highly suspected.To confirm the diagnosis, whole exome sequencing was performed using peripheral blood, which revealed a novel point mutation (c.739G>A, p.Glu247Lys) in the fumarate hydratase (FH) gene. We describe a confirmed case of HLRCC, which is a genetic disorder with a potential to cause visceral cancers, which dermatologists might overlook as a benign condition.

Background: Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circu‑ lar shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) meas‑ ured MA in degenerative mitral valve disease (DMVD). Methods: Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D ­TEEsa ) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D ­TEEsa . MA areas were compared using linear regression and Bland-Altman analysis. Results: The median MA area measured at 3D ­TEEsa was 1,386 (1,293–1,673) ­mm2 . With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distribu‑tions of inter-method differences were wide for all 2D TTE methods (265–289 ­mm2 ) when compared to 3D ­TEEsa , indicating imprecision. Conclusions When compared with 3D ­TEEsa modeling of the MA as the reference, the assumption of a circular shapeusing A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moder‑ ate to severe regurgitation.

Background: Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circu‑ lar shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) meas‑ ured MA in degenerative mitral valve disease (DMVD). Methods: Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D ­TEEsa ) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D ­TEEsa . MA areas were compared using linear regression and Bland-Altman analysis. Results: The median MA area measured at 3D ­TEEsa was 1,386 (1,293–1,673) ­mm2 . With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distribu‑tions of inter-method differences were wide for all 2D TTE methods (265–289 ­mm2 ) when compared to 3D ­TEEsa , indicating imprecision. Conclusions When compared with 3D ­TEEsa modeling of the MA as the reference, the assumption of a circular shapeusing A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moder‑ ate to severe regurgitation.

Background: Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circu‑ lar shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) meas‑ ured MA in degenerative mitral valve disease (DMVD). Methods: Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D ­TEEsa ) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D ­TEEsa . MA areas were compared using linear regression and Bland-Altman analysis. Results: The median MA area measured at 3D ­TEEsa was 1,386 (1,293–1,673) ­mm2 . With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distribu‑tions of inter-method differences were wide for all 2D TTE methods (265–289 ­mm2 ) when compared to 3D ­TEEsa , indicating imprecision. Conclusions When compared with 3D ­TEEsa modeling of the MA as the reference, the assumption of a circular shapeusing A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moder‑ ate to severe regurgitation.

Background: Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circu‑ lar shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) meas‑ ured MA in degenerative mitral valve disease (DMVD). Methods: Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D ­TEEsa ) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D ­TEEsa . MA areas were compared using linear regression and Bland-Altman analysis. Results: The median MA area measured at 3D ­TEEsa was 1,386 (1,293–1,673) ­mm2 . With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distribu‑tions of inter-method differences were wide for all 2D TTE methods (265–289 ­mm2 ) when compared to 3D ­TEEsa , indicating imprecision. Conclusions When compared with 3D ­TEEsa modeling of the MA as the reference, the assumption of a circular shapeusing A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moder‑ ate to severe regurgitation.

BACKGROUND/AIMS: Clostridium difficile is an important cause of diarrhea in hospitalized patients. C. difficile-associated diarrhea (CDAD) is usually diagnosed following a stool test for C. difficile cytotoxin or stool culture for the presence of toxigenic C. difficile. However, the reported sensitivities of these tests are variable. Sigmoidoscopy may be an effective diagnostic method in patients with a false-negative stool test for cytotoxin. This study examined the role of flexible sigmoidoscopy in the diagnosis of CDAD. METHODS: Among the patients who had diarrhea and were examined with sigmoidoscopy in Eulji University Hospital between January 2005 and July 2008, 102 patients suspected of having antibiotic-associated diarrhea (AAD) based on their clinical symptoms were enrolled. Of the 102 patients, 74 were diagnosed with CDAD based on C. difficile cytotoxin or sigmoidoscopic findings of pseudomembranous colitis. The medical records of these 74 patients were reviewed retrospectively. RESULTS: Of the 74 patients, sigmoidoscopic findings revealed a pseudomembrane in 63 patients (85.1%) and colitis in nine (12.2%), while two patients (2.7%) appeared normal. Of the 63 patients with pseudomembranous colitis at sigmoidoscopy, the stool C. difficile cytotoxin assay was negative in 27 (42.9%). CONCLUSIONS: Flexible sigmoidoscopy was highly sensitive in pseudomembranous colitis and is useful in diagnosing patients with a delayed or negative stool test for C. difficile cytotoxin. Therefore, we recommend flexible sigmoidoscopy in patients suspected of having C. difficile-associated diarrhea for the diagnosis of CDAD.
Clostridium ; Clostridium difficile ; Colitis ; Diarrhea ; Enterocolitis, Pseudomembranous ; Humans ; Medical Records ; Sigmoidoscopy

Abdominal tuberculosis is not a rare disease, but obstructive jaundice caused by tuberculosis (tuberculous lymphadenitis, tuberculous enlargement of the head of pancreas, and/or tuberculous stricture of the biliary tree) is rare. We recently experienced a case of obstructive jaundice as a result of paradoxical reaction of periportal tuberculous lymphadenopathy that was treated successfully with corticosteroid and biliary drainage. No similar cases have been reported previously.
Constriction, Pathologic ; Drainage ; Head ; Jaundice, Obstructive ; Lymphatic Diseases ; Pancreas ; Rare Diseases ; Tuberculosis ; Tuberculosis, Lymph Node

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.
Amyloid ; Amyloidosis ; Biopsy ; Bone Marrow ; Colon ; Constipation ; Diarrhea ; Gastrointestinal Hemorrhage ; Gastroparesis ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction ; Middle Aged ; Multiple Myeloma ; Steatorrhea ; Stomach ; Weight Loss

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.
Amyloid ; Amyloidosis ; Biopsy ; Bone Marrow ; Colon ; Constipation ; Diarrhea ; Gastrointestinal Hemorrhage ; Gastroparesis ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction ; Middle Aged ; Multiple Myeloma ; Steatorrhea ; Stomach ; Weight Loss

Little is known about the clinical significance of frailty and changes of frailty after dialysis initiation in elderly patients with end-stage renal disease (ESRD). We prospectively enrolled 46 elderly patients with incident ESRD at a dialysis center of a tertiary hospital between May 2013 and March 2015. Frailty was assessed by using a comprehensive geriatric assessment protocol and defined as a multidimensional frailty score of ≥ 10. The main outcome was the composite of all-cause death or cardiovascular hospitalization, as determined in June 2016. The median age of the 46 participants was 71.5 years, and 63.0% of them were men. During the median 17.7 months follow-up, the rate of composite outcome was 17.4%. In multivariate logistic regression analysis, after adjusting for age, sex, diabetes, body mass index (BMI), and time of predialytic nephrologic care, female sex, and increased BMI were associated with increased and decreased odds of frailty, respectively. In multivariate Cox proportional hazards analysis, after adjusting for age, sex, diabetes, BMI, and time of predialytic nephrologic care, frailty was significantly associated with the composite adverse outcome. In repeated frailty assessments, the multidimensional frailty score significantly improved 12 months after the initiation of dialysis, which largely relied on improved nutrition. Therefore, frailty needs to be assessed for risk stratification in elderly patients with incident ESRD.
Aged* ; Body Mass Index ; Dialysis ; Female ; Follow-Up Studies ; Geriatric Assessment ; Hospitalization ; Humans ; Kidney Failure, Chronic* ; Logistic Models ; Male ; Malnutrition ; Prospective Studies ; Risk Factors* ; Tertiary Care Centers