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Biomedical subjects

A Toi

Publications and source records attributed to A Toi.

At least 55 records · Page 3Linked to original sources
PubMed1993

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

Seven patients, including two sibs, with the Brachmann-de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I ("classic") patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally (< 3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death. Type II ("mild") BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre- and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS. Type III ("phenocopies") BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures.

Adolescent↗
PubMed1993

Trisomy 4 in a fetus with cyclopia and other anomalies.

We report on an 18-week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, anal atresia, oligosyndactyly, cystic hygroma, and skeletal abnormalities with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17-year-old G3 P1 TAB1 woman with sickle cell trait. Trisomy 4 conceptuses usually miscarry in the first trimester. We are aware of no other reports of a fetus with trisomy 4 and cyclopia. Causal association of chromosome abnormalities and holoprosencephaly sequence may be more apparent in embryos and early fetuses than term fetuses because of poor viability of affected conceptuses.

Abnormalities, Multiple↗
PubMed1993

American Cancer Society--National Prostate Cancer Detection Project. Results from multiple examinations using transrectal ultrasound, digital rectal examination, and prostate specific antigen.

BACKGROUND: The American Cancer Society-National Prostate Cancer Detection Project is a prospective study of the feasibility of early prostate cancer detection by digital rectal examination (DRE), transrectal ultrasound (TRUS), and prostate specific antigen (PSA). Two thousand nine hundred ninety-nine men not previously suspected of having prostate cancer have been entered on study in ten participating clinical centers. METHODS: The study protocol requires these men to undergo testing with the three detection methods under investigation on an annual basis for up to 5 years. Data currently are available on 1972 men who have completed protocol requirements for two sequential series of examinations. RESULTS: At the first visit, it was recommended that 16.5% of subjects undergo biopsy based on the TRUS and/or DRE findings. Seventy-three (3.7%) men were found to have cancer after the first series of examinations. When the 1899 men who did not have cancer were reexamined, in 11.4%, a biopsy was recommended, and an additional 33 (1.7%) cancers were detected. Cancer detection rates were higher in older men, and the sensitivity of TRUS was higher than that of DRE at both examinations. The positive predictive values (PPV) of TRUS and DRE varied significantly depending on the PSA level; PPV decreased at the second examination. Positive findings during the second examination were associated with elevated PSA levels during the earlier visit and rising PSA levels between examinations. Analyses of the 106 cancers detected currently showed a preponderance of early-stage cancer and low Gleason scores. CONCLUSIONS: It may be possible to increase the early detection of prostate cancer by periodic examination by a combination of detection modalities.

Aged↗
PubMed1992

Constriction bands and limb reduction defects in two newborns with fetal ultrasound evidence for vascular disruption.

Most structural anomalies attributed to vascular disruption have been inferred, though not proven, to be the result of disruptive events in utero. We report on 2 pregnancies with ultrasound evidence of disruptive events resulting in terminal limb "reduction" defects with constriction bands and other anomalies. In the first patient a fetal ultrasound study at 12 weeks post-LMP demonstrated a monochorionic (MC) twin pregnancy with a nonviable co-twin and no evidence of amniotic bands. At birth, there was a left cleft lip and palate, and terminal limb "reduction" defects with ring constrictions of the left hand and both feet. In the second patient, a routine fetal ultrasound study at 18 weeks post-LMP identified a subhepatic cyst which subsequently resolved. Fetal ultrasound examination and neonatal computed tomography (CT) scan of the liver were consistent with a hepatic infarct due to emboli from the umbilical vein. At birth, patient 2 had acrosyndactyly of the left hand with ring constrictions of the digits and reduction of the left big toe. There was no evidence of abnormal amnion. Postnatal development has been normal in both cases. We present ultrasound evidence supporting the hypothesis that vascular disruption from death of a co-twin or from in utero embolic infarcts can cause: 1) terminal limb "reduction" defects and possibly cleft lip and palate; and 2) ring constrictions similar to those of "amniotic band disruption sequence" in the absence of an abnormal amnion. Serial pregnancy ultrasound studies are recommended for evaluation of the development of fetal structural anomalies following ultrasound evidence of a disruptive event in utero.

Abnormalities, Multiple↗
PubMed1991

Seminal vesicles. Imaging and intervention using transrectal ultrasound.

The seminal vesicles are difficult to evaluate clinically. Transrectal ultrasound (TRUS) has only recently allowed adequate assessment of these structures and their disorders. As the use of TRUS increases, radiologists must familiarize themselves with diseases of the seminal vesicles and the normal and abnormal appearance at ultrasound. This paper presents four cases illustrating the uncommon disorders that TRUS can demonstrate in the seminal vesicles: ectopic ureter entering the seminal vesicle, symmetrically enlarged seminal vesicles with male infertility, a pelvic arteriovenous malformation mimicking a seminal vesicle cyst, and tuberculosis. In two patients, TRUS was used to guide needle aspiration of seminal vesicle contents safely and to inject contrast for radiography.

Adult↗
PubMed1990

Effects of the artificial urinary sphincter on prostatic development and sexual function in pubertal boys with meningomyelocele.

Although sexual development in boys with meningiomyelocele may progress normally through puberty, the effects of surgical correction of incontinence by insertion of an artificial sphincter device around the bladder neck remain unclear. We studied 13 boys who received an artificial urinary sphincter before puberty and compared them to 12 age-matched pubertal controls with meningomyelocele. The prostate morphology was evaluated by means of transrectal ultrasonography, and we compared this finding, as well as sexual development, erectile function and seminal emissions between the 2 groups. Boys in both groups had similar development of secondary sexual characteristics and reported similar erectile function. Ultrasonography demonstrated an imprint of the sphincter cuff on the prostate but patients and controls had equal prostatic growth. In both groups an unexpected finding was the unexplained presence of sonolucent and sonodense lesions within the prostate glands. We conclude that transrectal ultrasonography is an excellent means of examining the prostate in pubertal boys with meningomyelocele. An artificial urinary sphincter placed around the bladder neck does not alter sexual development, function, prostatic growth or prostatic morphology.

Adolescent↗
PubMed1990

Value of random US-guided transrectal prostate biopsy.

One hundred sixty-four men underwent ultrasound-guided transrectal biopsy of a hypoechoic prostatic nodule suspicious for malignancy, and random biopsy of normal-appearing areas of the gland. The contribution of random biopsy to diagnosis, staging, and management of prostatic carcinoma was evaluated. A diagnosis of carcinoma was made in 71 patients (43.3%). Carcinoma was diagnosed at biopsy of only the nodule in 56 of these patients (79%), at both the nodule and random biopsy site in 10 (14%), and only at the random biopsy site in five (7%). Random biopsy did not result in significant alteration of clinical staging. However, management was altered in five patients with positive results at random biopsy only, four of whom underwent surgery. The additional yield from random prostatic biopsy was small but distinct and had clinical relevance. The authors conclude that random biopsy is a useful procedure in the evaluation of patients with prostatic nodules.

Aged↗
PubMed1990

The value of sonography in the diagnosis of acute diverticulitis of the colon.

To assess the value of sonography as the initial imaging procedure in patients suspected of having acute diverticulitis of the colon, we evaluated the sonograms of 71 patients who had clinical signs and symptoms of the disease. Identification of diverticula on sonograms was taken as evidence of acute diverticulitis. Fifty-four patients had sonographic findings consistent with this diagnosis. These included gut wall thickening (53), diverticula (34), pericolic (21) and intramural (two) fluid collections, edema of the pericolic fat (22), and intramural sinus tract (one). The final diagnosis was based on the clinical impression (all cases); pathologic interpretation of a surgical specimen (33 cases); findings on contrast enema (40 cases), CT scan (14 cases), and colonoscopy (18 cases); and a favorable clinical outcome in the absence of therapy (17 cases). Forty-six of the 54 patients with positive sonograms had acute diverticulitis, six had pericolic inflammatory masses caused by other colonic diseases, and two had surgically confirmed diverticulosis without active inflammation. All 17 patients with normal sonograms were treated conservatively. Diverticulitis was not confirmed in any of these patients. Our study suggests that sonography is a valuable imaging technique in the patient with signs and symptoms of acute diverticulitis.

Acute Disease↗
PubMed1990

Sonography accurately detects biliary obstruction in patients with surgically created biliary-enteric anastomosis.

The use of sonography to determine the patency of surgically created biliary-enteric anastomoses has been questioned by authors who favor use of cholescintigraphy and percutaneous transhepatic cholangiography for this purpose. We retrospectively reviewed the sonographic findings in 35 patients with such anastomoses: 16 choledochojejunostomies, 11 choledochoduodenostomies, five intrahepatic cholangiojejunostomies, and three cholecystoenterostomies. The anastomosis was patent in 25 patients, completely obstructed in four, and partially obstructed in six. Five of the 25 patients with patent anastomoses had nonanastomotic complications with biliary stasis and cholangitis. In the 20 patients with patent anastomoses and no complication, sonography showed bile ducts ranging from 2 to 9 mm in diameter filled with bile (six), gas (two), or both (12). No patient with a normally functioning anastomosis had evidence of a dilated bile-filled duct in the upright position. In four patients with complete obstruction of the anastomosis, sonography showed dilated, bile-filled ducts ranging from 6 to 14 mm in diameter proximal to the anastomosis. Sonograms in all six patients with partial obstruction showed both gas and bile in dilated bile ducts with superficial gas-filled ducts and dependent bile-filled ducts creating gas/fluid interfaces, which were persistent in the upright position. The 15 patients with anastomotic obstruction or other complication had confirmatory percutaneous transhepatic cholangiography (nine patients), scintigraphy (five patients), CT (four patients), and surgery (eight patients). Our experience suggests that sonography can be used to accurately assess surgically created biliary-enteric anastomoses for both anastomotic patency and for other complications.

Adult↗
PubMed1989

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.

Adult↗
PubMed1989

The evaluation of suspected renal colic: ultrasound scan versus excretory urography.

Patients commonly present to the emergency department with a suspected diagnosis of renal colic. A prospective study of 98 patients presenting with acute flank or abdominal pain or both was conducted to determine the diagnostic accuracy of ultrasound scan compared with excretory urography for the diagnosis of urinary tract calculi. All patients underwent standardized ultrasound scan and excretory urography as independent procedures. Two staff radiologists who reported the procedures were blinded to the results of the other diagnostic test and ultimate clinical outcome. All patients discharged home from the ED were followed to the hospital urology clinic. The diagnosis of urinary calculus was made only by identification of calculus at surgery or by reported passage of a stone by the patient. Of 85 patients available for follow-up study (56 men, 29 women; mean age, 40.5 years; range 18 to 77 years), calculi were identified in 69 (81%). Ultrasound identified calculi in 44 patients (sensitivity, 64%; specificity, 100%). Excretory urography identified calculi in 44 patients (identical sensitivity and specificity). When the presence of obstructive hydronephrosis only was used to diagnose renal calculi, ultrasound scan identified 59 patients (sensitivity, 85%; specificity, 100%) and excretory urography identified 62 patients (sensitivity, 90%; specificity, 94%). When the results of both diagnostic modalities were combined, calculi were identified in 59 patients (sensitivity, 85%; specificity, 100%) and hydronephrosis was seen in 66 patients (sensitivity, 95%; specificity, 94%). Our study shows that the diagnostic abilities of these procedures are equal in the detection of renal calculi.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Patterns of cerebral glucose metabolism using 18FDG and positron tomography in the neurologic investigation of the full term newborn infant.

18F fluorodeoxyglucose (18FDG) and positron tomography (PT) were used in 20 full term babies with seizures or hypotonia to describe regional cerebral glucose metabolism. Among babies with seizures, birth asphyxia was the most common cause. PT was performed at age 6-17 days. One hour before PT, 18FDG (50-100 microCi/kg) was injected intravenously. Ten or more PT sections were obtained in each infant. The areas of the brain that were metabolically the most active were the cortex and the thalami. Six cortical areas and a white matter reference area were selected for analysis of relative rates of glucose metabolism as indicated by relative rates of fluorine-18 activity. Cortical fluorine-18 activity was highest in the pericentral (sensorimotor) regions and lowest in the frontal regions. The overall cortex/white matter ratio for fluorine-18 activity averaged 1.78 +/- 0.44 (SD). Four patterns of regional cerebral glucose metabolism were distinguished: 1) bilateral symmetry, 2) loss of metabolic definition, 3) hemispheral asymmetry, 4) focal hyper- or hypometabolism. Patterns 1) and 2) correlated with a history of birth asphyxia, a diagnosis of hypoxic-ischemic encephalopathy and the absence of focal echoes on cranial ultrasound. Hypodense areas on CT could be associated with either high or low fluorine-18 relative activity on PT. The prognostic significance of the presently reported patterns of cerebral glucose metabolism remains to be determined.

Brain↗
PubMed1987

Neonatal outcome of fetuses with urinary tract abnormalities diagnosed by prenatal ultrasonography.

Between 1979 and 1986 an abnormality of the urinary tract was diagnosed by prenatal ultrasound examination in 93 fetuses. Postnatal investigation at a large teaching hospital showed a definite abnormality in 85 infants, 66 of whom were boys. An obstructed urinary tract, usually requiring surgery, was present in 46 infants. Other abnormalities included a multicystic kidney (in 15 infants), vesicoureteric reflux (in 9), prune-belly syndrome (in 5) and polycystic kidneys (in 5). Early recognition and treatment of urinary tract disorders in infants should be accompanied by informed prenatal counselling to minimize parents' anxiety.

Female↗
PubMed1987

Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.

Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.

Abnormalities, Multiple↗
PubMed1987

Ultrasonically evident fetal nuchal skin thickening: is it specific for Down syndrome?

Fetal nuchal thickening in the second trimester is suggested as an ultrasonographic sign strongly suggesting the presence of Down syndrome. To better understand this potentially valuable observation, we explored aspects of the finding not considered in previous reports. The published data were reanalyzed to estimate statistically the presence of the sign in a low-risk obstetric population. Second, films of chromosomally normal fetuses were reviewed to confirm the normal range of measurement. Finally, autopsy reports of aborted Down syndrome fetuses were reviewed. Our results confirm that true nuchal thickening is present in some second-trimester Down syndrome fetuses. Unfortunately, a positive sign occurs in a significant proportion of chromosomally normal fetuses. Also our calculations predict a high incidence of false positive results in a low-risk obstetric population. Consequently we urge caution in the interpretation of these findings until prospective characterization of these observations is available.

Down Syndrome↗
PubMed1987

Pitfalls in the ultrasonographic diagnosis of gallbladder diseases.

Ultrasonography is rapidly replacing radiological techniques of gallbladder investigation. While ultrasonography is highly accurate, there are technical, anatomical and diagnostic pitfalls which will trap the unwary. This presentation highlights the pitfalls which we have encountered, reviews the literature in this area and suggests techniques whereby these pitfalls may be avoided.

Diagnostic Errors↗