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Biomedical subjects

R Mashiach

Publications and source records attributed to R Mashiach.

At least 19 recordsLinked to original sources

Ultrasound diagnosis of fourth branchial arch sinus at 22 weeks' gestation.

Fourth branchial arch sinus is the rarest of the branchial cleft anomalies and its prenatal detection has not previously been reported in the English literature. We describe a case of fourth branchial arch sinus identified in a fetus during a routine ultrasound evaluation at 22 weeks' gestation. Survey of the fetal anatomy revealed a small 'nipple-like' structure on the neck, arising anteriorly to the sternocleidomastoid muscle, midway between the chin and the left shoulder. The structure persisted unchanged throughout the pregnancy. The prenatal diagnosis of fourth branchial arch sinus was confirmed at delivery at term.

Adult↗

Fetal hyperechogenic kidney with normal amniotic fluid volume: a diagnostic dilemma.

OBJECTIVE: To determine the prognostic value of sonographically detected fetal hyperechogenic kidneys with normal amniotic fluid volume. METHODS: Seven cases of hyperechogenic fetal kidneys were identified by sonography over a 7-year period (1996--2002). Increased renal echogenicity was diagnosed when the renal parenchyma was of greater echogenicity than adjacent liver tissue. Amniotic fluid volume was measured by the semiquantitative sonographic technique known as the amniotic fluid index (AFI). RESULTS: Three of the live-born infants had autosomal dominant polycystic kidney disease and one had autosomal recessive polycystic kidney. In the remainder, autopsy study revealed multifocal renal dysplasia in two cases and normal kidneys in one. CONCLUSIONS: Increased renal echogenicity with normal amniotic fluid volume in a fetus without other anomalies is a difficult diagnostic dilemma. Although it is usually indicative of renal parenchymal disease with possible renal failure after birth or in early childhood, in some cases, it represents a normal variant. .

Amniotic Fluid↗

Prenatal ultrasound diagnosis of club foot: outcome and recommendations for counselling and follow-up.

Club foot was diagnosed by ultrasonography in 91 feet (52 fetuses) at a mean gestational age of 22.1 weeks (14 to 35.6). Outcome was obtained by chart review in 26 women or telephone interview in 26. Feet were classified as normal, positional deformity, isolated club foot or complex club foot. At initial diagnosis, 69 feet (40 fetuses) were classified as isolated club foot and 22 feet (12 fetuses) as complex club foot. The diagnosis was changed after follow-up ultrasound scan in 13 fetuses (25%), and the final ultrasound diagnosis was normal in one fetus, isolated club foot in 31 fetuses, and complex club foot in 20 fetuses. At birth, club foot was found in 79 feet in 43 infants for a positive predictive value of 83%. Accuracy of the specific diagnosis of isolated club foot or complex club foot was lower; 63% at the initial ultrasound scan and 73% at the final scan. The difference in diagnostic accuracy between isolated and complex club foot was not statistically significant. In no case was postnatal complex club foot undiagnosed on fetal ultrasound and all inaccuracies were overdiagnoses. Karyotyping was performed in 25 cases. Abnormalities were noted in three fetuses, all with complex club foot and with additional findings on ultrasound.

Clubfoot↗

Early sonographic detection of recurrent fetal eye anomalies.

OBJECTIVE: To determine the possible association between congenital eye anomaly of a previous child in the family and current congenital eye anomaly. METHODS: An early transvaginal anomaly scan at 14-16 gestational weeks was used to diagnose fetal eye anomalies in five cases in which at least one previous child in the family had the same congenital eye anomaly. RESULTS: At least one cataract was detected in four of the five fetuses and bilateral anophthalmia in one. The congenital cataract in one case was part of multiple pterygium syndrome. Both of these extremely rare malformations are commonly associated with other fetal anomalies. CONCLUSION: Our data suggest that a detailed targeted ultrasound survey with a special focus on the orbital region should be offered at the time of genetic counseling to couples with children with congenital eye anomalies.

Anophthalmos↗

Accuracy of sonographically estimated fetal weight in 840 women with different pregnancy complications prior to induction of labor.

OBJECTIVES: To evaluate the accuracy of sonographically estimated fetal weight (EFW) shortly before induction of labor in the presence of different pregnancy complications, and to define possible variables affecting it. METHODS: The study sample consisted of 840 women with singleton pregnancies and cephalic presentation who were admitted to our unit for induction of labor between January 1999 and December 2000. All underwent detailed ultrasound assessment for EFW, amniotic fluid index, biophysical profile and placental location. Indications included previous Cesarean section, postdate pregnancy, pregnancy-induced hypertension, diabetic pregnancy, suspected large-for-gestational age (LGA) infants, suspected fetal growth restriction (FGR), oligohydramnios, decreased fetal movements, premature rupture of membranes at or before term. EFW was calculated after measuring fetal abdominal circumference and femur length. The EFW was compared with the weight at delivery, 1-3 days later. RESULTS: There was a high correlation between EFW and birth weight (R(2) = 0.775, P < 0.001). The mean birth weight was 3207 +/- 561 g, and mean absolute weight difference was 227 +/- 197 g; (absolute range, 0-1700 g; actual range, - 986 to + 1700 g). The mean weight difference was significantly different between the patients with LGA infants, FGR infants and preterm premature rupture of membranes (PPROM) (- 110 +/- 281 g, + 113 +/- 195 g and + 115 +/- 307 g, respectively, P < 0.01). Stepwise linear regression analysis of the effects of maternal and pregnancy characteristics on the weight difference yielded lower gestational age, higher birth weight, anterior placenta, higher gravidity, and younger maternal age as independent and significant variables associated with greater actual weight difference inaccuracy (R(2) = 0.099, P < 0.001), and higher birth weight as the only independent and significant variable associated with greater absolute weight difference (R(2) = 0.09, P = 0.018). CONCLUSIONS: The sonographic EFW is highly correlated with birth weight. However, clinicians should be aware of the risk of overestimation in pregnancies with suspected LGA and underestimation in pregnancies with PPROM and suspected FGR.

Adult↗

The 'virtual' cervical internal os: diagnosis during the first trimester of pregnancy.

OBJECTIVE: To determine the appropriate time during gestation for assessing the cervix for possible incompetence by ascertaining the gestational week at which the sac reaches the level of the internal os. METHODS: Three hundred and eighteen women with an intact singleton pregnancy at 5 to 15 weeks' gestation underwent endovaginal sonographic examination to measure the distance between the gestational sac and the cervical internal os. The change in location of the gestational sac in the endometrial cavity over time, and the earliest gestational week at which the gestational sac reached the level of the internal os, were calculated and analyzed with one-way analysis of variance. RESULTS: The distance between the gestational sac and the 'virtual' cervical internal os decreased from a mean of 4.72 cm at 5 weeks to 1.71 cm at 13 weeks. This distance decreased significantly during the early first trimester (weeks 5 to 7) (P = 0.004), but remained almost unchanged from 12 to 15 weeks. Only at 12 weeks' gestation could the entire cervical length be determined and the configuration of the cervical internal os assessed for incompetence. CONCLUSIONS: Transvaginal sonography is a good method for evaluating the cervix during pregnancy. The location of the 'virtual' internal os can be determined in the first trimester using the urinary bladder as a reference point.

Adult↗

The 'tulip sign': a sonographic clue for in-utero diagnosis of severe hypospadias.

OBJECTIVE: To describe a unique sonographic sign for prenatal detection of severe penoscrotal hypospadias. METHODS: Ultrasound findings of hypospadias diagnosed in the second trimester of pregnancy in seven patients were compared with postnatal clinical features. All patients were recruited from routine sonographic examinations performed for various obstetric indications. RESULTS: In six of the seven cases with hypospadias, a severe form of peno-scrotal hypospadias was found. In all six cases, a unique ultrasound feature was observed represented by extreme ventral angulation of the penis, with or without chordee, in a form resembling a tulip flower. This 'tulip' is formed by the ventrally bent penis located between the two scrotal folds. In all six patients, the postnatal pictures of the newborns' genitalia corresponded perfectly to the prenatal sonograms. Associated anomalies occurred in two cases, with Nager syndrome in one case and mild renal hydronephrosis in the other case. CONCLUSIONS: The 'tulip sign' is a specific ultrasonic finding of severe hypospadias. The recognition of this may help to distinguish between severe hypospadias and other genital abnormalities (e.g. ambiguous genitalia).

Female↗

Sonographic evaluation of the puerperal uterus: correlation with manual examination.

OBJECTIVES: To document uterine involution after vaginal delivery and cesarean section by abdominal sonography and to compare the efficacy of manual examination and ultrasonography. STUDY DESIGN: Postpartum manual and sonographic assessment of uterine involution was performed in 120 patients following vaginal and cesarean delivery with an attempt to build a database of changes in uterine dimensions. The patients' reports on the intensity of uterine contractions and vaginal bleeding were compared to the results of sonographic imaging. RESULTS: Palpation revealed proper uterine involution in 80 and 25% of patients after vaginal delivery and cesarean section, respectively. It could not be performed in 2.5% after vaginal delivery compared to 50% after cesarean section. Uterine length was found to be significantly greater after cesarean section than after vaginal delivery (p = 0.0001), and the anterior uterine wall was significantly thinner than the posterior wall (p = 0.0001). Uterine length was significantly greater in the presence of blood accumulation in the uterine cavity (20.7 cm), than when the uterus was empty (18.8 cm) (p = 0.001). In correlating between the patient's report of intense bleeding and the sonographic picture of blood in the uterine cavity sonography had a sensitivity of 0.56 and a specificity of 0.83, whereas the patients' reports had a positive predictive value of 0.22. The difference in information provided by the patients versus that provided by sonography was highly significant (p = 0.001, chi(2) test). CONCLUSION: Within 3 days after delivery, patients particularly those having had a cesarean section, should undergo uterine sonographic scanning and manual palpation to evaluate involution and presence of blood in the uterine cavity.

Adult↗

First-trimester biochemical screening for Down syndrome.

Of all markers evaluated for first-trimester biochemical screening for Down syndrome (DS), PAPP-A and free beta-hCG emerged as the most predictive. The combined test uses these markers in conjunction with nuchal translucency measurements, and is estimated to achieve a DS detection rate of 80% to 85% at a 5% false-positive rate. The integrated test, combining first-trimester sonographic and biochemical markers with second-trimester markers, provides a single estimate of a patients DS risk, and may yield a DS detection rate of 94% at a 5% false-positive rate. The acceptability and feasibility of this test, however, remain to be proved.

Biomarkers↗

In utero ultrasound detection of a large fetal sarcoma of the back.

A congenital fibrosarcoma, a very rare soft-tissue tumor of infancy, was suspected on prenatal ultrasound at 23 weeks' gestation. On sonography, a large soft tissue growth on the left side of the fetal back, measuring 53 x 65 x 22 mm, was observed. The diagnosis was further validated by magnetic resonance imaging. Delivery by Cesarian section occurred at 31 weeks of gestation, due to fetal distress. The baby underwent an unusual embolization of the tumor-feeding arteries and an operation at the age of 1 month to remove the tumor. The pathological and cytogenetic examinations were consistent with the diagnosis of a fibrosarcoma.

Adult↗

Subtorsion of the ovary: sonographic features and clinical management.

OBJECTIVE: To define the sonographic imaging criteria of ovarian subtorsion. METHODS: Fourteen women 16 to 35 years of age with suspected unilateral twisted ovaries were sonographically evaluated in a tertiary care center before laparoscopy. Transvaginal sonography was performed to determine the longest ovarian dimension, diameter of the periovarian vessels, and degree of intraovarian blood flow and to evaluate ovarian morphology. Laparoscopy was performed to verify the sonographic findings and to perform detorsion. RESULTS: All ovaries with subtorsion were of normal size, although still significantly longer than the contralateral, normal ovaries (47.5 and 29.6 mm, respectively; P = .001). The mean diameter of the periovarian vessels was significantly greater for the ovaries with subtorsion than the normal ovaries (29.9 and 19.2 mm, respectively; P= .0001). At laparoscopy, the ovary was twisted less than 180 degrees in 9 patients and 180 degrees to 360 degrees in 5. The degree of twisting correlated significantly with the size of the ovary (P = .016) and diameter of the periovarian vessels (P = .046). The 3-month sonographic follow-up after detorsion revealed bilateral normal ovarian dimensions with proper follicular growth. CONCLUSIONS: Congestion of the periovarian vessels with normal ovarian morphology and persistent blood flow on sonography, combined with the presence of appropriate clinical signs, may be indicative of ovarian subtorsion.

Adult↗

Sonographic diagnosis of pelvic adhesions in patients after ovum pickup.

OBJECTIVE: To evaluate the use of transvaginal sonography for the detection of pelvic adhesions by using clear free fluid in the pouch of Douglas found after ovum pickup. METHODS: A prospective clinical study was performed in an infertility unit of an academic research facility. Sonography was performed in 50 women with infertility 3 days after ovum pickup, and the visceral peritoneum of the uterus, the ovaries, and the fallopian tubes was scanned for possible pelvic adhesions. RESULTS: The serosal surfaces of the uterus, ovaries, and fallopian tubes were successfully observed for the presence of adhesions in 86%, 68%, and 20% of the patients, respectively. Improved visualization was associated with an increased amount of pelvic fluid for the uterus (P = .01) but not for the ovaries and fallopian tubes. The amount of fluid in the pelvis correlated with an increased number of retrieved oocytes (P = .07) and a decreased need for manual manipulation to achieve proper imaging of the uterus (P = .001). CONCLUSION: Transvaginal sonography performed in the presence of fluid in the pelvis may show adhesions mainly attached to the uterus and ovaries. Assessment of possible mechanical factors is important in planning treatment of patients with infertility.

Adnexal Diseases↗

Prenatal sonographic diagnosis of laryngeal atresia in association with single umbilical artery.

Congenital laryngeal atresia is an extremely rare anomaly that in most cases is incompatible with life. About 50% of cases involve other major malformations. Prenatal sonographic diagnosis of this condition has been described only 6 times. We present a case in which prenatal sonographic examination at 21 weeks' menstrual age revealed enlarged, hyperechoic lungs, dilated upper airways, ascites, and a single umbilical artery. To our knowledge, this is the first reported case of the prenatal diagnosis of laryngeal atresia in association with a single umbilical artery.

Abnormalities, Multiple↗

Predictive value of transvaginal sonography performed before routine diagnostic hysteroscopy for evaluation of infertility.

OBJECTIVE: To compare transvaginal sonography with hysteroscopy for the evaluation of intrauterine disorders. DESIGN: Clinical study. SETTING: Academic research environment. PATIENT(S): Patients who were undergoing initial evaluation for primary or secondary infertility or investigation after three failed IVF attempts. INTERVENTION(S): Transvaginal sonography was performed, followed by hysteroscopy, between January 1998 and April 1999. The endometrial findings at sonography were compared with those at hysteroscopy, which served as the gold standard. The characteristic sonographic features of intrauterine adhesions were defined. MAIN OUTCOME MEASURE(S): Intrauterine adhesions, endometrial polyps. RESULT(S): The sensitivity, specificity, and positive and negative predictive values for transvaginal sonography in detecting abnormal uterine cavities were 100%, 96.3%, 91.3%, and 100%, respectively. The corresponding values for the specific diagnoses of intrauterine adhesions and endometrial polyps were 80%, 100%, 100%, and 97%, and 71.4%, 100%, 100%, and 97.1%, respectively. On transvaginal sonography, intrauterine adhesions appeared as hyperechoic endometrial foci and were differentiated from endometrial polyps by their irregular shape and more precise localization. The performance of transvaginal sonography at midcycle (three-layer endometrium) rather than after menstrual cessation (endometrial thickness <3 mm) enabled better imaging of small intrauterine adhesions. CONCLUSION(S): A regular myometrial-endometrial interface and homogeneous endometrial structure on transvaginal sonography congruent with the phase of the menstrual cycle indicated a normal endometrium and precluded the need for diagnostic hysteroscopy. Transvaginal sonography may be used as the initial diagnostic procedure to select patients for hysteroscopy.

Adult↗

Sonographic visualization of normal-size ovaries during pregnancy.

OBJECTIVE: To assess the ability of ultrasound to detect ovaries of normal size during pregnancy METHODS: A prospective study of 329 women with a normal pregnancy course was undertaken; 68 were excluded from analysis because of an enlarged, cystic ovary. Of the remainder, 60 pregnancies were examined in the first trimester and 201 in the second or third trimester. The first group underwent transvaginal (TVS) and transabdominal (TAS) scanning. The second group underwent TAS examination only. RESULTS: In the first-trimester group, TVS identified both ovaries in 57 patients (95%) and transabdominal ultrasound in 20 (33.3%). In the second- and third-trimester patients, TAS visualized both ovaries in 33 patients (16.4%), and neither ovary in 120 (59.7%). Both ovaries were less visible with advancing gestational age. The right ovary showed a significant change in position during pregnancy, from about 1 cm (at 15-24 weeks) to 2.5 cm (at 30-41 weeks) cranial to the iliac spine. The left ovary was found 1 cm above the iliac spine throughout pregnancy. CONCLUSIONS: Transvaginal sonography is adequate for the visualization of both ovaries in the first trimester of pregnancy. With advanced gestational age, the ovaries were significantly less visible by TAS. Sonographic scanning of the ovaries in second and third trimester should be concentrated mainly at the level of the iliac spine. Poor sonographic visualization of both ovaries in late gestation may mandate the use of other imaging modalities.

Analysis of Variance↗

Prenatal ultrasound diagnosis of infantile myofibromatosis--a case report.

Infantile myofibromatosis, the most common soft tissue tumor of infancy, was diagnosed at 30 weeks of gestation. The tumor presented on ultrasound as a large mass measuring 42 mm x 75 mm x 35 mm located on the fetal back. The ultrasound diagnosis was further validated by MRI. Termination of pregnancy was carried out, and a multicentric visceral type of the tumor was diagnosed at autopsy.

Adult↗

Pemphigus vulgaris in pregnancy: a case report and review of literature.

Pemphigus vulgaris (PV) is an uncommon, immune-mediated bullous dermatosis, which, during its active phase, has been associated with infertility. Pemphigus vulgaris during pregnancy is exceedingly rare-only 26 cases with immunopathological confirmation have been reported. The disease may be associated with adverse neonatal outcome, including prematurity and fetal death. Transient skin lesions may occasionally appear in the neonate. We report a patient who conceived during the active phase of PV, required high doses of corticosteroids to control the disease, and was delivered of a pre-term, appropriate-for-gestational age newborn.

Adult↗