Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases

The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2 %) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48–0.55 %).     

Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians.

Sixty normal male Caucasians were selected to study the length of the Y chromosome. QFQ banding was performed. Chromosomes 19 and 20 (F) and Y were measured directly from the film. Y/F, f/F, and nf/F indices (f = fluorescent; nf = non-fluorescent segment) were determined. The length of the Y chromosome was classified into 5 groups; very small, small, average, large, and very large with Y/F indices of less than 0.8, 0.81--0.94, 0.95--1.09, 1.1--1.23, and greater than 1.23, respectively. The frequencies of Y/F indices for these groups were 0 (0%), 9 (15.0%), 40 (66.7%), 8 (13.3%), and 3 (5.0%), respectively. The most frequent class was 0.95--1.09 and was defined as the 'average' Y/F index for the human Y chromosome. The variation in the total length of the Y chromosome was accounted for by variations in the length of the non-fluorescent as well as the fluorescent segments. No relation between f and nf segments was observed. The mean Y/F, f/F, and nf/F indices were 1.022, 0.441, and 0.574, respectively.     

The first report of familial adult T-cell leukemia lymphoma in the United States

Two patients, a daughter and her father, developed the acute type of adult T-cell leukemia/lymphoma (ATLL) within a 3-month period. Antibodies against HTLV-I have been found in both wives of the father. The second wife acquired the infection from her husband within 3 years of marriage. The patients described represent the first cases of familial ATLL in the United States. ATLL continues to be frequently misdiagnosed in the United States. A positive family history consistent with this disease in a patient with a lymphoid malignancy may be a helpful clue for earlier diagnosis.     

Necrotizing colitis in patients with cancer.

Necrotizing lesions of the colon occur in patients with malignancy. We identified 26 patients with cancer (23 with acute leukemia and three with solid tumors) who died from necrotizing colitis. Autopsies revealed three pathologic categories: pseudomembranous colitis in 69 per cent, agranulocytic colitis in 19 per cent and ischemic colitis in 12 per cent. Most died from sepsis. A comparison of characteristics was made with a control population matched for diagnosis, age, cause of death and duration of neoplasia. Nearly all patients in both groups had fever and were granulocytopenic secondary to chemotherapy. Most received antineoplastic and antimicrobial regimens during the month prior to their terminal illness. Abdominal pain and distention, stomatitis and necrotizing pharyngitis were frequently associated with colitis. Hyperbilirubinemia was a frequent late complication in those with colitis and the control group. Single and multiorganism septicemia were found more frequently in patients with colitis. As antemortem diagnosis was unusual, aggressive attempts at diagnosis are necessary to assess the true incidence of this disorder and the best therapy.     

Assessment of severity of aortic stenosis through time-frequency analysis of murmur

STUDY OBJECTIVE: The accurate and inexpensive noninvasive assessment of the presence and severity of aortic stenosis remains a challenge. In this study, we performed spectral analysis on the murmurs of a group of patients with this disease in order to assess its severity. DESIGN: An electronic stethoscope was used to generate a spectral analysis of murmurs in patients with aortic stenosis. The durations of the spectra at different frequencies (ie, 200, 250, and 300 Hz) were correlated to the Doppler echocardiogram-derived mean and peak pressure gradients. Heart murmurs from the patients were recorded, and the spectra of the recordings were produced via fast-Fourier transformation. The duration of the spectra above the three given frequencies was then measured. PATIENTS: Forty-one patients (age range, 45 to 94 years; mean age, 68 years) met the inclusion criteria, which included a minimum ejection fraction of 40% and no other significant systolic murmur or coexistent valve disease. RESULTS: The peak pressure gradient measured via Doppler echocardiogram ranged from 15.3 to 185 mm Hg with the mean of 63 mm Hg. The duration of the spectra of > 300 Hz correlated best with the peak pressure gradient measured using the Doppler echocardiogram. An exponential regression model was created showing a significant correlation coefficient of r = 0.86 (p < 0.0001). CONCLUSIONS: This study demonstrated a good correlation between the duration of spectra at 300 Hz and the Doppler derived peak pressure gradient. This simple and inexpensive technique may prove to be valuable in the evaluation and monitoring of patients with suspected and proven aortic stenosis.