Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
Autopsy ; Extremities ; Female ; Fetus ; Heart Defects, Congenital ; Humans ; Karyotype ; Parents* ; Pregnancy ; Radius ; Soil ; Thumb ; Ultrasonography* ; Upper Extremity

No abstract available.
Cervix Uteri* ; Embryo Transfer* ; Embryonic Structures* ; Female ; Fertilization in Vitro* ; Follicular Fluid* ; Humans* ; Spermatozoa* ; Spouses*

Actinomycosis is a rare, chronic disease, mainly caused by Actinomyces israelii that are present in the normal flora of the oral cavity and gastrointestinal tract. Opportunistic infection can occur if there is a break in the mucosal barrier or immunosuppressant condition. Factors that precipitate actinomycosis include surgery, inflammation, perforation, and intrauterine contraceptive devices. Esophageal actinomycosis is an extremely rare presentation, especially in immunocompetent patients. We report an unusual case of esophageal actinomycosis in an immunocompetent patient with review of the natural course of esophageal actinomycosis without treatment.
Actinomyces ; Actinomycosis* ; Chronic Disease ; Esophagus ; Gastrointestinal Tract ; Humans ; Immunocompetence ; Inflammation ; Intrauterine Devices ; Mouth ; Opportunistic Infections

OBJECTIVE: The aim was to evaluate whether the differences of PG concentration in follicular and peritoneal fluid during preovulatory phase exist between the women with and without endometriosis. MATERIAL AND METHODS: Twenty-three patients with endometriosis, 8 were stage I-II and 15 were stage III-IV, and another 23 patients without endometriosis were undergone laparotomy during late follicular phase. Peritoneal fluid from 46 patients and follicular fluid from 42 patients were obtained, and these samples were analyzed double times for PGF2alpha, PGE2 and estradiol. RESULTS: The mean level of PGF2alphain the peritoneal fluid was significantly higher in the group with endometriosis than in the control(P=0.0293), especially more significant in stage I-II endometriosis. Although there was no significant difference of PGF2alphaconcentration in the follicular fluid between the groups, the stage III-IV endometriosis group showed slightly higher PGF2alphalevel than both the stage I-II group and the control(P=0.0604). And also, there was significant positive correlation with the level of PGF2alphaand estradiol in the follicular fluid only in the endometriosis group(r=0.4988, P=0.0154), not in the control. However, there was no difference in the level of PGE2 and estradiol in the peritoneal or follicular fluid between the groups. CONCLUSION: Some alterations of PGF2alphalevel exist in the women with endometriosis. These are significantly higher PGF2alphalevel in peritoneal fluid with mild endometriosis and slightly higher PGF2alphalevels in follicular fluid with extensive endometriosis during preovulatory phase, which suggest that PGF2alphamay play some roles in subfertility associated with endometriosis.
Ascitic Fluid* ; Dinoprost* ; Dinoprostone ; Endometriosis* ; Estradiol ; Female ; Follicular Fluid ; Follicular Phase* ; Humans ; Infertility ; Laparotomy

Background: Several studies have reported that abdominal fat and muscle changes occur in diabetic patients. However, there are few studies about such changes among prediabetic patients. In this study, we evaluated the differences in abdominal fat and muscles based on abdominopelvic computed tomography in prediabetic and diabetic subjects compared to normal subjects. Methods: We performed a cross-sectional study using health examination data from March 2014 to June 2019 at Ulsan University Hospital and classified subjects into normal, prediabetic, and diabetic groups. We analyzed the body mass index corrected area of intra-abdominal components among the three groups using inverse probability treatment weighting (IPTW) analysis. Results: Overall, 8,030 subjects were enrolled; 5,137 (64.0%), 2,364 (29.4%), and 529 (6.6%) subjects were included in the normal, prediabetic, and diabetic groups, respectively. After IPTW adjustment of baseline characteristics, there were significant differences in log visceral adipose tissue index (VATI; 1.22±0.64 cm2/[kg/m2] vs. 1.30±0.63 cm2/[kg/m2] vs. 1.47±0.64 cm2/[kg/m2], P<0.001) and low-attenuation muscle index (LAMI; 1.02±0.36 cm2/[kg/m2] vs. 1.03±0.36 cm2/[kg/m2] vs. 1.09±0.36 cm2/[kg/m2], P<0.001) among the normal, prediabetic, and diabetic groups. Prediabetic subjects had higher log VATI (estimated coefficient= 0.082, P<0.001), and diabetic subjects had higher log VATI (estimated coefficient=0.248, P<0.001) and LAMI (estimated coefficient=0.078, P<0.001) compared to normal subjects. Conclusion Considering that VATI and LAMI represented visceral fat and lipid-rich skeletal muscle volumes, respectively, visceral obesity was identified in both prediabetic and diabetic subjects compared to normal subjects in this study. However, intra-muscular fat infiltration was observed in diabetic subjects only.

Background: Several studies have reported that abdominal fat and muscle changes occur in diabetic patients. However, there are few studies about such changes among prediabetic patients. In this study, we evaluated the differences in abdominal fat and muscles based on abdominopelvic computed tomography in prediabetic and diabetic subjects compared to normal subjects. Methods: We performed a cross-sectional study using health examination data from March 2014 to June 2019 at Ulsan University Hospital and classified subjects into normal, prediabetic, and diabetic groups. We analyzed the body mass index corrected area of intra-abdominal components among the three groups using inverse probability treatment weighting (IPTW) analysis. Results: Overall, 8,030 subjects were enrolled; 5,137 (64.0%), 2,364 (29.4%), and 529 (6.6%) subjects were included in the normal, prediabetic, and diabetic groups, respectively. After IPTW adjustment of baseline characteristics, there were significant differences in log visceral adipose tissue index (VATI; 1.22±0.64 cm2/[kg/m2] vs. 1.30±0.63 cm2/[kg/m2] vs. 1.47±0.64 cm2/[kg/m2], P<0.001) and low-attenuation muscle index (LAMI; 1.02±0.36 cm2/[kg/m2] vs. 1.03±0.36 cm2/[kg/m2] vs. 1.09±0.36 cm2/[kg/m2], P<0.001) among the normal, prediabetic, and diabetic groups. Prediabetic subjects had higher log VATI (estimated coefficient= 0.082, P<0.001), and diabetic subjects had higher log VATI (estimated coefficient=0.248, P<0.001) and LAMI (estimated coefficient=0.078, P<0.001) compared to normal subjects. Conclusion Considering that VATI and LAMI represented visceral fat and lipid-rich skeletal muscle volumes, respectively, visceral obesity was identified in both prediabetic and diabetic subjects compared to normal subjects in this study. However, intra-muscular fat infiltration was observed in diabetic subjects only.

Colonoscopic examination is a safe procedure, however, unexpected complications can sometimes occur. Bleeding and perforation of the colon have been reported as the most common complications. Hemoperitoneum after colonoscopy is an unusual complication, but it may be catastrophic. We report on a 20-year-old man who experienced left low quadrant pain after undergoing colonoscopy. Hemoperitoneum was diagnosed using abdominal CT. A laparoscopic exploration was urgently performed, revealing a lacerated mesocolon of the descending colon. Bleeding of the injured site was controlled without complication. The patient recovered fully without signs of recurrent bleeding. This report implies that if the patient has persistent abdominal pain after undergoing colonoscopy, we should consider hemoperitoneum as one of the causes. To the best of our knowledge, no case of isolated laceration of the mesocolon of the descending colon after colonoscopy has been reported.
Colonoscopy/adverse effects ; Hemorrhage/etiology ; Humans ; Lacerations/*diagnosis/radiography ; Laparoscopy ; Male ; Mesocolon/blood supply ; Pneumoperitoneum/radiography ; Tomography, X-Ray Computed ; Young Adult

No abstract available.
Carcinoma, Hepatocellular* ; Pregnancy*

The purpose of this study was to elucidate whether the molecular defect of acid-base transporters in renal tubules is related to the functional defect of urinary acidification in distal renal tubular acidosis(RTA). We performed NH4Cl, furosemide, or bicarbonate loading test to evaluate renal acidification function, and immunohistochemistry using antibodies to H+- ATPase, Cl-/HCO3- exchanger(band-3 protein), and Na+/K+-ATPase in kidney tissue in 6 patients with RTA and renal cell carcinoma patients as normal controls. Kidney tissue was obtained either by percutaneous needle biopsy(RTA) or nephrectomy(NC). The results were as follows; 1) In all six RTA patients, proton secretory defect of distal acidification was shown by a failure to lower the urine pH after NH4Cl loading or furosemide test or abnormally low urine-blood pCO2 difference during bicarbonate loading. In two patients with RTA, proximal acidification defect was combined, which was demonstrated by increased fractional excretion of bicarbonate. 2) In normal control, intense H+-ATPase and band-3 protein staining was observed in collecting ducts. 3) In distal RTA patients, H+-ATPase and band- 3 protein staining was not demonstrable or markedly decreased in the intercalated cells of distal nephron. 4) In two patients who had both proximal and distal RTA, H+-ATPase staining was markedly decreased in the brush border of proximal tubules as well as the distal nephron. In conclusion, the defect of acid-base transporters in renal tubule was related with the functional defect of urinary acidification in distal RTA.
Acidosis, Renal Tubular* ; Adenosine Triphosphatases ; Antibodies ; Carcinoma, Renal Cell ; Furosemide ; Humans ; Hydrogen-Ion Concentration ; Immunohistochemistry ; Kidney ; Microvilli ; Needles ; Nephrons ; Protons

PURPOSE: The purpose of this study was to describe the clinical and MR imaging features of acute gouty arthritis and to define the characteristic findings that would be helpful for differentiating acute gouty arthritis from septic arthritis. MATERIALS AND METHODS: The authors retrospectively studied seven patients who suffered from acute gouty arthritis. The MR imaging findings were analyzed by two musculoskeletal radiologists who focused on joint effusion, subchondral bone erosion, bone marrow edema, synovial thickening (regular and even, or irregular and nodular), and the soft tissue changes (edema or abscess). The clinical records of the patients were reviewed with regard to age and gender, the clinical presentation and the laboratory findings (serum uric acid, WBC, erythrocyte sedimentation rate, C-reactive protein and synovial fluid culture). RESULTS: The patients consisted of six men and one woman whose mean age was 41 years (age range: 24-65 years). The joints involved were the knee (n=6), and ankle (n=1). Two patients had medical histories of gouty attacks that involved the first metatarsophalangeal joint. In six cases, the serum uric acid level during acute attacks was elevated. In all the patients, the affected joint became swollen, hot, erythematous and extremely tender, and this was accompanied by a high ESR and a high C-reactive protein level at the time of presentation. The results of Gram stain and culture of the synovial fluid were negative. In all patients, the MR images showed large amounts of joint effusion, thick irregular and nodular synovial thickening and soft tissue edema without subchondral bone erosions and soft tissue abscess. In one case, subchondral bone marrow edema of the medial femoral condyle was present. In five cases, there were multiple low signal foci in the joint on the spin-echo T2-weighted MR image. CONCLUSION: Even though the MR imaging findings of acute gouty arthritis are nonspecific, it should be considered as a possible diagnosis when a large amount of joint effusion, irregular and nodular synovial thickening and soft tissue edema without subchondral bone erosion, bone marrow edema or soft tissue abscess are seen in the knee or ankle joint, and especially if this is accompanied by the clinical and laboratory features of infection.
Abscess ; Ankle ; Ankle Joint ; Arthritis ; Arthritis, Gouty* ; Arthritis, Infectious ; Blood Sedimentation ; Bone Marrow ; C-Reactive Protein ; Diagnosis ; Edema ; Female ; Gout ; Humans ; Joints ; Knee ; Magnetic Resonance Imaging* ; Male ; Metatarsophalangeal Joint ; Retrospective Studies ; Synovial Fluid ; Uric Acid