Cases reported "Syndrome"

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1/1565. An extrahepatic bile duct metastasis from a gallbladder cancer mimicking Mirizzi's syndrome.

    We report a case of an extrahepatic bile duct metastasis from a gallbladder cancer that mimicked Mirizzi's syndrome on cholangiography. A 67-yr-old woman was admitted to our hospital with a diagnosis of acute calculous cholecystitis. As obstructive jaundice developed after the admission, percutaneous transhepatic biliary drainage was performed to ameliorate the jaundice and to evaluate the biliary system. Tube cholangiography revealed bile duct obstruction at the hepatic hilus, and extrinsic compression of the lateral aspect of the common hepatic duct, with nonvisualization of the gallbladder. No impacted cystic duct stone was visualized on CT or ultrasonography. laparotomy revealed a gallbladder tumor as well as an extrahepatic bile duct tumor. We diagnosed that the latter was a metastasis from the gallbladder cancer, based on the histopathological features. This case is unique in that the extrahepatic bile duct metastasis obstructed both the common hepatic duct and the cystic duct, giving the appearance of Mirizzi's syndrome on cholangiography. Metastatic bile duct tumors that mimic Mirizzi's syndrome have not been previously reported. The presence of this condition should be suspected in patients with the cholangiographic features of Mirizzi's syndrome, when the CT or ultrasonographic findings fail to demonstrate an impacted cystic duct stone.
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2/1565. Variable clinical expression of Holt-Oram syndrome in three generations.

    Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.
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3/1565. magnetic resonance imaging of acquired Brown syndrome in a patient with psoriasis.

    PURPOSE: To report the occurrence of acquired Brown syndrome and associated magnetic resonance imaging findings in a patient with psoriasis. methods: A 42-year-old woman with a history of psoriasis developed pain, double vision, and limited elevation of her left eye in adduction. An orbital magnetic resonance image with gadolinium enhancement was obtained. RESULTS: Orbital magnetic resonance image disclosed abnormal enhancement of the left trochlea/tendon complex. The patient's symptoms resolved with corticosteroid therapy. CONCLUSIONS: Acquired Brown syndrome may be associated with psoriasis. The inflammation of the trochlea/tendon complex that can cause acquired Brown syndrome can be demonstrated on magnetic resonance image.
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4/1565. Cardiac involvement in proximal myotonic myopathy.

    Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.
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ranking = 0.14285714285714
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5/1565. (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.

    BACKGROUND AND OBJECTIVE: Gilbert's syndrome, a chronic non-hemolytic unconjugated hyperbilirubinemia, is caused by a reduction in the activity of hepatic bilirubin UDP-glucuronosyltransferase (UGT1A1). This reduction has been shown to be due to a polymorphism in the promoter region of the UGT1A1 gene. The presence of seven thymine adenine (TA) repeats reduces the efficiency of transcription of the UGT1A1 gene. To elucidate the genetic background of a patient affected by Gilbert's syndrome, we collected blood samples from family members for the analysis of the A(TA)nTAA motif in the promoter region of the UGT1A1 gene. DESIGN AND methods: Analysis of the A(TA)nTAA motif in the promoter region of the UGT1A1 gene was performed by PCR. Estimation of UGT1A1 promoter containing the variable (TA) repeats was performed by using a luciferase reporter system. RESULTS: Three different genotypes were identified due to the presence of (TA)6, (TA)7 and (TA)8 repeats. The production of luciferase decreases in inverse relation to the number of repeats. INTERPRETATION AND CONCLUSIONS: The (TA)7 polymorphism, associated with Gilbert syndrome, is the only allele found up to now in white populations, while two other variants (TA)5 and (TA)8 have been identified in black populations. We describe here the first case of a subject affected by Gilbert's syndrome who is heterozygous for the (TA)8 allele in the promoter region of the UGT1A1 gene. This polymorphism, as well as the (TA)7 one, is associated with an increased level of bilirubin and a significant reduction of transcription activity of the UGT1A1 gene.
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ranking = 0.28571428571429
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6/1565. signal transduction defects in growth hormone insensitivity.

    growth hormone (GH) insensitivity is a heterogeneous condition that can result from mutations within the GH receptor (GHR) and that can be inherited as both an autosomal recessive and a dominant trait. However, evidence from a small number of growth hormone binding protein (GHBP)-positive families indicates that their GH insensitivity is independent of GHR mutations. Two of these families appear to have distinct abnormalities in GH signal transduction. Studies suggest that one family (classic laron syndrome phenotype; designated family H) have a signalling defect close to the GHR, preventing activation of both the STAT and MAPK pathways, whereas the other family (less marked phenotype; family M) have a defect in activating MAPK but not the STAT pathway. The children studied here are specifically insensitive to GH and their defect must be exclusive to this signalling system. Thus, families with GHBP-positive GH insensitivity without GHR mutations are likely to be important models in which to study the specificity of GH signal transduction and the relationship between GH insensitive phenotype and signalling defect.
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ranking = 0.42857142857143
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7/1565. Fibropolycystic disease of the hepatobiliary system and kidneys.

    This complicated case of fibropolycystic disease of the hepatobiliary system and kidneys was ably and incisively analyzed by Professor Sheila Sherlock. Her clinical acumen was revealed by her ability to differentiate congenital hepatic fibrosis, Caroli's disease, and adult polycystic disease of the liver and kidney. Interesting histologic features of this case included hepatic fibrosis with intact limiting plates anc central veins and the presence of bile plugs in the ducts, but the absence of bile statsis in the parenchyma. A percutaneous transhepatic cholangiogram demonstrated the dilated intrahepatic and extrahepatic ducts. Washing out the "gunk" from the biliary tract by T-tube drainage has great limitations in this type of case. Therefore, Dr. Adson suggested irrigation of the biliary ductal system using tubed placed transhepatically, plus a wide choledojejunostomy. Dr. Sherlock questioned this surgical approach. The use of chenodeoxycholic acid for this "gunk" was suggested. In spite of the dilated ducts and pathologic changes in the liver, the patient was not jandiced and did not have stones in her biliary tract. The genetics of this patient's problems was discussed.
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ranking = 0.28571428571429
keywords = duct
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8/1565. Cell-mediated immunity in epidermodysplasia verruciformis.

    Investigations were performed in 6 cases of epidermodysplasia verruciformis and 2 healthy family members. Nonspecific cell-mediated immunity (CMI) was studied by measuring response to phytohemagglutinin (PHA) and concanavalin a (Con A), percentrages of E- and EAC-rosette-forming lymphocytes, bacterial skin tests, and allergic reactions to dinitrochloro-benzene (DNCB). Impairment of CMI was manifested by reduction in the percentage of E rosettes, and lowered response to PHA, and- to a lesser degree- to Con A. The immune response to DNCB sensitization was invariably negative. Impairment of CMI was greater in cases of long duration and with extensive lesions. The cases of similar duration and extent of lesions, which never showed tendency to tumor formation, were not different in CMI in comparison with cases with numerous tumors. Only in cases with very advanced tumors CMI was impaired parallel to the gravity of the patient's general condition.
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9/1565. Atypical vertical retraction syndrome: a case study.

    A case of unilateral retraction of the eyeball in downward gaze as well as downshoot with the retraction when an outward horizontal movement of the contralateral eye was attempted has been introduced. The case has an exotropia with inability to adduct involved eye. The face turned to the left to minimize diplopia in the primary position. During the retraction, the lid widened slightly. An analyses by electrooculography and electromyography suggested that there was an abnormal neural connection between the vertical recti of the involved eye and the contralateral lateral rectus muscle. Co-contraction of vertical recti and loss of the reciprocal innervation were seen at the involved eye. Surgical treatment for exotropia, and total transplantation of vertical recti to the insertion of the involved medial rectus resulted in a slight reduction of the exotropia with the face straight, but not in the retraction as well as adduction and elevation of the involved eye. Based on the results, a central mechanism to produce above abnormality was described.
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ranking = 0.21428571428571
keywords = duct
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10/1565. Skin conductance responses in paediatric Harlequin syndrome.

    We report a novel and simple application of skin conductance response (SCR) testing for diagnosis of a new-onset iatrogenic Harlequin syndrome in an infant. Isolated ipsilateral facial pallor, complicated by thermally induced systemic sympathetic vasodilatation, and preferential lateral decubitus positioning, mimics harlequin colour change. Correct diagnosis as Harlequin syndrome with facial sympathetic interruption was demonstrated by diminution of SCR.
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ranking = 0.35714285714286
keywords = duct
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