Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome

Deletion of the proximal portion of chromosome 4q is apparently rare. To our knowledge, prenatal diagnosis of the interstitial deletion of 4q12-21.1 has never been reported. We present a prenatal case of 4q deletion in association with a positive Down syndrome screening test of an elevated maternal serum free beta human chorionic gonadotrophin (beta-hCG) level. The prenatal sonogram revealed intra-uterine growth retardation (IUGR) and shortening of the femur. Facial dysmorphism included micrognathia, depressed nasal bridge and low-set ears, these anomalies were evident at the postnatal examination. All of the anomalies were consistent with those described in proximal 4q deletion syndrome. Our case suggests that chromosome studies may be indicated for patients with high maternal serum free beta-hCG and IUGR in the early second trimester.     

Residual symptoms and signs after untreated acute optic neuritis. A one-year follow-up

PURPOSE: To study the symptoms and signs one year after optic neuritis. METHODS: Seventy population-based untreated patients, (44F, 26M; median age 35 years, range 14-48 years) were eligible for study, but the 11 bilateral cases were excluded. Among 59 patients participating in a one-year follow-up of the visual function, 58 answered a questionnaire. RESULTS: At follow-up 59% of the patients complained of visual impairment, though 49% of these patients had a Snellen visual acuity of 6/9 or better. The affected eyes showed decreased visual acuity in 34%, decreased contrast sensitivity in 63%, an abnormal score in 40% with the Lanthony D-15 desaturated panel, and in 13% with the Ishihara test, prolonged latencies of VEP in 58%, and decreased amplitudes of VEP in 41%. CONCLUSIONS: All tests except for VEP correlated significantly to the degree of perceived visual impairment. Subjective visual complaints and more sensitive tests than visual acuity should be used to evaluate the visual function following optic neuritis.     

Hantavirus pulmonary syndrome in the United States: a pathological description of a disease caused by a new agent

An outbreak of an acute respiratory disease in the southwestern United States has led to the recognition of a new hantaviral illness. This report describes a unique spectrum of antemortem and postmortem pathological findings seen in a case series of nine surviving patients and 13 who died. Clinical, laboratory, and autopsy findings were derived from a consecutive series of individuals confirmed to have hantavirus pulmonary syndrome. Laboratory studies included chemical, hematological, and bone marrow analyses as well as flow cytometric and immunohistochemical phenotyping. Autopsy tissues were examined by routine histological stains, immunohistochemical methods, and transmission electron microscopy. The lung is the primary target organ in this illness. Pulmonary abnormalities include pleural effusions, alveolar edema and fibrin, and an interstitial mononuclear cell infiltrate. Large immunoblast type cells are seen in the lungs, blood, bone marrow, lymph nodes, liver, and spleen. A tetrad of hematological findings includes left-shifted neutrophilic leukocytosis, thrombocytopenia, hemoconcentration in severe cases, and circulating immunoblasts. In contrast to previously described nephropathic hantaviral syndromes, hantavirus pulmonary syndrome is characterized by a unique constellation of pulmonary, hematological, and reticuloendothelial pathological findings. The pulmonary findings are distinguishable from fatal adult respiratory distress syndrome. The data suggest a capillary leak syndrome restricted to the pulmonary circulation. Likewise, the hematological picture is unique and may be valuable in the rapid identification of cases for further diagnostic studies.     

Allergens of Kentucky Blue Grass pollen. II. Isolation of hapten-like components from Kentucky Blue Grass pollen by preparative isoelectrofocussing

Components with hapten-like properties were isolated from the nondialyzable fraction, i.e. the retentate (R) and the dialyzable fractions of the aqueous extract of Kentucky Blue Grass pollen (KBC aq.ext.), by preparative isoelectrofocussing on Sephadex G-100 gel. These haptenic components could not elicit the passive cutaneous anaphylaxis (PCA) reactions in rats passively sensitized with a murine reaginic antiserum to R, but could inhibit completely and specifically the PCA reaction which is normally elicitable with R. It was concluded that the specificity of the murine IgE antibodies was directed to a determinant(s) which was common to either allergenic or haptenic fractions. Moreover, by employing a pool of human sera from individuals allergic to KBG pollen in the radioallergosorbent test procedure, it was apparent that most of the haptenic fractions lacked some of the specificities present on allergenic components of R that were recognized by the human IgE antibodies. Evidence was obtained to suggest that the electrophoretic heterogeneity of allergenic components present in various fractions of KBG aq.ext. may be due primarily to differences in their net charge, rather than to differences in their allergenic specificity.     

Analysis of potential risk factors associated with the development of pancreatitis in phase I patients with AIDS or AIDS-related complex receiving didanosine

Phase I dose-escalating trials of didanosine revealed dose-limiting toxicities, including pancreatitis, and established a total daily dose of 12.5 mg/kg/day as the maximum tolerated dose. Clinical and pharmacokinetic data of 61 patients from two trials were analyzed to further evaluate the risk of pancreatitis: 1 (6.3%) of 16 patients who received < 500 mg/day didanosine, 2 (13.3%) of 15 who received 500-750 mg/day, and 15 (50%) of 30 who received > 750 mg/day developed pancreatitis (P < .001). A relationship between risk of pancreatitis and steady-state plasma concentrations of didanosine and age was also observed, suggesting that knowledge of didanosine pharmacokinetics provided additional information regarding risk of toxicity. Further confirmation of these findings will be necessary to determine if the risk factors for pancreatitis remain the same at lower doses currently used.     

Disease-free survival and recurrence after resection of colorectal carcinoma

Recurrence data from a series of 1,315 colorectal cancer patients managed by one surgeon with potentially curative resection are presented. Complete follow-up information was available on 1,287 (98%) patients. At the time of the last recurrences, 164 and 232 months for rectal and colonic tumours respectively, the long-time recurrence rate was significantly (P = 0.001) higher for rectal tumours (42%) than for colonic (33%). Although local recurrences tended to be more common in rectal than in colonic tumours (18% compared to 15%), only those in contiguity with the operative area were significantly (P less than 0.005) more common in rectal tumours. Systemic recurrences were also significantly (P less than 0.025) commoner for rectal tumours. The greater recurrence rates in rectal tumours were associated with significantly (P less than 0.001) higher incidence of stage C tumours shorter recurrence-free survival in rectal stage C tumours (P = 0.001) and higher incidence of pulmonary metastases (P less than 0.001).