Asymptomatic uveitis in young people with inflammatory bowel disease.

PURPOSE: To ascertain the prevalence of uveitis in a population of pediatric patients with inflammatory bowel disease without ocular symptoms. METHODS: We prospectively evaluated all young people who came to the pediatric gastroenterology clinic with endoscopically proven inflammatory bowel disease between March 1994 and June 1995. All the patients were examined for evidence of ocular manifestations of inflammatory bowel disease. The examination consisted of slit-lamp examination, tonometry, and indirect ophthalmoscopy. None of the patients had visual or ocular symptoms. Eighteen patients had Crohn's disease and 14 had ulcerative colitis. RESULTS: Of the 32 patients evaluated, four (12.5%) had evidence of asymptomatic ocular inflammation, defined as anterior chamber cell and flare. All patients with ocular inflammation were male. Three of these four male patients had Crohn's disease; the other had ulcerative colitis. Five patients had posterior subcapsular cataract, one had esotropia and amblyopia, and one had unilateral high myopia. CONCLUSIONS: The prevalence of asymptomatic uveitis in our population of young people with inflammatory bowel disease was 12.5%. These findings suggest the need for a screening ophthalmologic examination to rule out occult eye disease in young people with inflammatory bowel disease.     

Linitis Plastica of the Esophagus

A 62-yr-old woman was evaluated for a 2-wk history of regurgitation and weight loss. Radiologic studies demonstrated a stenotic region in the distal third of the esophagus. Multiple endoscopic biopsies were nondiagnostic. Esophagectomy and esophagogastrostomy revealed a diffusely infiltrating adenocarcinoma ("linitis plastica") of the distal esophagus, sparing the gastroesophageal junction and stomach. Despite the absence of metastatic disease at laparotomy, the patient developed metastases unresponsive to chemotherapy. The pathologic, radiographic, and endoscopic findings are consistent with primary linitis plastica of the esophagus.     

Antinuclear antibodies in scleroderma,mixed connective tissue disease and “primary” Raynaud's phenomenon

Summary The diversity of antibodies in patients with scleroderma, mixed connective tissue disease or primary Raynaud's phenomenon could be used as a laboratory aid in the clinical diagnosis. In serum samples of 75 patients we screened for antinuclear antibodies (HEp 2 cells), anti DNA, soluble nucleoprotein and extractable nuclear antigens (Sm, rRNP, Ul-nRNP, SSA/Ro, SSB/La and Scl-70). Distinctive antinuclear antibodies pattern was identified in each group of patients. This immunologic profile is valuable for clinical diagnosis and the preferential association of certain autoantibodies with some diseases and not with others, suggest an antigen-driven stimulus for its production.     

Postnephrectomy pseudoaneurysm with arteriovenous fistula

Sonography detected a paraaortic pulsatile tubular mass in a patient 10 years after “stump” nephrectomy, which was subsequently confirmed as a renal artery-renal vein fistula by computed tomography, angiography, and laparotomy.     

Postnephrectomy pseudoaneurysm with arteriovenous fistula

Sonography detected a paraaortic pulsatile tubular mass in a patient 10 years after "stump" nephrectomy, which was subsequently confirmed as a renal artery-renal vein fistula by computed tomography, angiography, and laparotomy.     

Sleep paralysis: a study in family practice

Over a period of two years, five patients with sleep paralysis referred themselves to four family practices in Israel serving a population of 6800. None of the patients suffered from daytime sleep attacks or cataplexy and all were from the oriental (sephardi) community. The two who were tissue typed had HLA haplotypes different from those which are exclusively associated with narcolepsy and one of them who also underwent polysomnography had a normal tracing. There was considerable delay in consulting a physician despite the physical and mental anguish caused by the disorder and some improvement was noted once the diagnosis was explained. The serious nature of the components of the differential diagnosis - myocardial infarction, seizure disorder, cardiac arrest, anaesthetic accident - makes it important that sleep paralysis be more widely recognized.     

Kinetics of Antibody Responses in Rickettsia africae and Rickettsia conorii Infections

African tick-bite fever, caused by Rickettsia africae, is the most common tick-borne rickettsiosis in sub-Saharan Africa. Mediterranean spotted fever due to Rickettsia conorii also occurs in the region but is more prevalent in Mediterranean countries. Using microimmunofluorescence, we compared the development of immunoglobulin G (IgG) and IgM titers in 48 patients with African tick-bite fever and 48 patients with Mediterranean spotted fever. Doxycycline treatment within 7 days from the onset of disease significantly prevented the development of antibodies to R. africae. In patients with African tick-bite fever, the median times to seroconversion with IgG and IgM were 28 and 25 days, respectively, after the onset of symptoms. These were significantly longer by a median of 6 days for IgG and 9 days for IgM than the times for seroconversion in patients with Mediterranean spotted fever (P < 10⁻²). We recommend that sera collected 4 weeks after the onset of signs of patients with suspected African tick-bite fever should be used for the definitive serological diagnosis of R. africae infections.     

Reciprocal translocation mosaicism in man

We report on an8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.