Cases reported "Syndrome"

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1/605. Abnormal deposition of type VII collagen in Kindler syndrome.

    Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease.
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2/605. Gross hematuria of uncommon origin: the nutcracker syndrome.

    Left renal vein hypertension, also called "nutcracker phenomenon" or "nutcracker syndrome," is a rare vascular abnormality responsible for gross hematuria. The phenomenon is attributable to the idiopathic decrease in the angle between the aorta and the superior mesenteric artery with consequent compression of the left renal vein. The entrapment of the left renal vein is not easily detectable by ordinary diagnostic procedures. We report two cases of gross hematuria (persistent in one patient and recurrent in the other) caused by "nutcracker phenomenon." In both cases, no remarkable findings were obtained from medical history, urinary red blood cells morphology, repeated urinalysis, pyelography, cystoscopy, or ureteroscopy. Left renal vein dilation in one case was found with a computed tomography (CT) scan performed on the venous tree of left kidney. The diagnosis of "nutcracker phenomenon" was confirmed by renal venography with measurement of pressure gradient between left renal vein and inferior vena cava in both cases. In one case, the diagnosis was complicated by the presence of mycobacterium tuberculosis in urine. The "nutcracker phenomenon" is probably more common than thought. early diagnosis is important to avoid unnecessary diagnostic procedures and complications such as the thrombosis of the left renal vein. Many procedures are available to correct the compression of the left renal vein entrapped between the aorta and the superior mesenteric artery: Gortex graft vein interposition, nephropexy, stenting, and kidney autotransplantation. After surgery, gross hematuria ceases in almost all patients.
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ranking = 111.08315821893
keywords = thrombosis, vein
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3/605. 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 = 4.3392392888908
keywords = vein
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4/605. Blue rubber bleb naevus: case report and literature review.

    Blue rubber bleb naevus syndrome is a rare cutaneous-digestive angiomatosis, described first by William Bean in 1958. Today, there are more than 200 cases published. The dangers of this syndrome include angiomata in the brain, kidneys or lungs (due to vasculature obliteration by in situ thrombosis). patients are scanned with technetium-labelled red blood cells in order to identify the affected organs. Multiple techniques are used to treat the lesions by gastrointestinal endoscopy.
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ranking = 76.369243907802
keywords = thrombosis
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5/605. lemierre syndrome and acute mastoiditis.

    lemierre syndrome seldom follows an episode of pharyngotonsillitis. Characteristically, it is comprised of septic thrombosis of the internal jugular vein and bacteremia, leading to lung emboli and metastatic abscess formation. We describe lemierre syndrome that complicates an acute mastoiditis, with considerations regarding its pathogenesis and management. Despite its sporadic occurrence, awareness of lemierre syndrome is important, since early recognition reduces both the morbidity and mortality associated with it.
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ranking = 80.708483196693
keywords = thrombosis, vein
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6/605. argon laser photocoagulation in ocular histoplasmosis syndrome.

    argon laser photocoagulation was performed on 30 patients with ocular histoplasmosis syndrome involving the macula. Selection of patients for photocoagulation was dependent upon locating the sub-retinal neovascularization (SRNV) at least one vein-width removed from the capillary-free zone of the fovea on fluorescein angiography. Of the 30 treated patients, 27 maintained or improved visual acuity an average of 1 1/2 years following photocoagulation.
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ranking = 4.3392392888908
keywords = vein
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7/605. Lemierre's syndrome.

    Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents. The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed a jugular thrombosis 7 days after an angina. fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved the lungs, associated with an iliac osteomyelitis and sacroiliitis. Computed tomography was used for diagnosis and follow-up.
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ranking = 80.708483196693
keywords = thrombosis, vein
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8/605. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.

    PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.
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ranking = 4.3392392888908
keywords = vein
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9/605. The smith-magenis syndrome: a new case with infant spasms.

    The smith-magenis syndrome (SMS) is characterized by congenital anomalies, mental retardation and the interstitial deletion of the 17p. 11.2 chromosome. The subjects affected by this syndrome show cranio-facial dysmorphias, brachycephalia, skeletal, ocular, cardiac, genitourinary and otolaryngological anomalies. The central nervous system is affected and this may be shown by psychomotor retardation, intellective deficit, electroencephalographic alterations (reduced/missing REM phase); the neuroradiological tests detect megacisterna magna, cerebellar hypoplasia, cortical dysplasia, ventricular asymmetry. Behavioural troubles are frequent and, among them, self-aggressive conducts (tearing out the nails). The syndrome is associated with the interstitial deletion of the 17p. 11.2 chromosome. The diagnosis can be made in the pre-natal period and a mosaic situation is possible. Even though the cases of SMS reported in the literature allow defining a characteristic phenotype, studies have been carried out to quantify the deletion of the chromosome 17 in order to identify the chromosomic tract which is responsible for the phenotypical induction. The deletion can either appear de novo or come from one of the parents. In addition, these subjects can show peripheral neuropathy, missing or reduced deep tendon reflexes and (rarely) epileptic crises. However, by reviewing the literature, no descriptions of patients affected by infant spasms are pointed out. This report refers to a new case of smith-magenis syndrome in a nine-month-old girl with spasms in extension.
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10/605. Postanginal septicaemia with external jugular venous thrombosis: case report.

    Postanginal septicaemia is a syndrome of anaerobic septicaemia, septic thrombophlebitis of the internal jugular vein, and metastatic infections, that follows a localized infection in the area drained by the large cervical veins. The syndrome was well-known and often fatal in the preantibiotic era. It is now rather rare, presumably as a result of the almost routine use of prophylactic antibiotics. The symptoms are classic, and it should be suspected in any case where septicaemia and metastatic lesions are preceded by a head and neck infection. We report a case that is typical, except that branches of the external jugular vein were thrombosed. To our knowledge this has not been reported previously.
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ranking = 336.25549782468
keywords = thrombosis, venous thrombosis, vein
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