Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis.

OBJECTIVE: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex. METHODS: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex-related brain involvement, defined as the presence of one or more of the following findings: white-matter lesions; subependymal nodules; cortical/subcortical tubers; and subependymal giant-cell astrocytoma. RESULTS: We included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27 + 2 weeks (range, 16 + 0 to 36 + 3 weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1-10). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (n = 1), exome sequencing (n = 7), autopsy (n = 4), clinical tuberous sclerosis complex in the newborn (n = 4) and a sibling diagnosed with clinical tuberous sclerosis complex (n = 1). In two cases, the disease could not be confirmed: one was lost to follow-up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (n = 2) and/or autopsy findings (n = 2). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false-positive case in our cohort. CONCLUSIONS: Contrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first-line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Persistent right umbilical vein: incidence and significance.

OBJECTIVES: To conduct a prospective evaluation of the incidence and neonatal outcome of fetuses with persistent right umbilical vein. This condition had traditionally been considered to be extremely rare and to be associated with a very poor neonatal prognosis, but later evidence has raised some doubts about the veracity of these contentions. METHODS: Between August 1995 and November 1998, 8950 low-risk patients were prospectively evaluated at two medical centers. The sonographic diagnosis of a persistent right umbilical vein was made in a transverse section of the fetal abdomen when the portal vein was curved toward the stomach, and the fetal gall bladder was located medially to the umbilical vein. RESULTS: Persistent right umbilical vein was detected in 17 fetuses during the study. Four of them had additional malformations, of which three had been detected antenatally. CONCLUSIONS: We established that the incidence of persistent right umbilical vein in a low-risk population is 1 : 526. We believe that the sonographic finding of this anomaly is an indication for conducting targeted fetal sonography and echocardiography. When the persistent right umbilical vein is connected to the portal system and other anomalies are ruled out, the prognosis can generally be expected to be favorable.

Effect of the supine position on uterine and umbilical blood flow during the third trimester of uncomplicated pregnancies in multiparous patients.

We established the effects of the supine position on umbilical blood flow when measured during the third trimester in 30 multiparous, normotensive patients. Blood flow in the umbilical and uterine arteries and blood pressure in the brachial and popliteal arteries were blindly taken by two different observers: first in the lateral and 5 min later in the supine position. There was a significant difference in mean blood pressure between the two postures. However, there was no statistical difference in the pulse pressure or in systolic/diastolic ratio in the umbilical and uterine arteries between the two positions. Postural changes in normotensive multiparous patients do not affect uterine and umbilical blood flow during the third trimester of uncomplicated pregnancies.

Antenatal sonographic diagnosis of epignathus at 15 weeks of pregnancy.

Epignathus is a rare, benign, congenital teratoma of the hard palate. Most of these teratomas are unidirectional and protrude through the mouth. Hence, the prognosis depends on the size of the tumor and the degree of face distortion and airway obstruction that it causes. However, some epignathi protrude bidirectionally, involving and destroying the brain tissue, resulting in a poor prognosis. This report presents a case of ultrasonographic detection of a bidirectional epignathus at 15 weeks of pregnancy.

Compliance with hormone replacement therapy in postmenopausal women. A comparative study.

OBJECTIVE: To assess compliance with hormone replacement therapy in postmenopausal women. METHOD: Two groups were compared prospectively: 100 women who sought treatment for menopausal symptoms, and 82 women who had undergone a total abdominal hysterectomy with bilateral salpingo-oophorectomy and were using estrogen replacement therapy. RESULTS: Compliance rates after 6 months were 81.0% and 84.1% in the two groups, respectively, and after 12 months, 73.0% and 80.5%. CONCLUSIONS: The high rates are attributed to our investment in patient education of the benefits of treatment and repeated and close follow-up.

Reproducibility of transvaginal ultrasonographic measurements of endometrial thickness in patients with postmenopausal bleeding.

The aim of the study was to establish the reproducibility of transvaginal sonographic measurements of endometrial thickness in patients with postmenopausal bleeding (PMB). In a prospective blind study, two examiners measured the endometrial thickness in 48 patients presenting with PMB by transvaginal sonography on two separate occasions, 30 min apart. The analysis of variance performed at each endometrial thickness measured by the two examiners revealed no statistical difference. However, it was shown that the most accurate measurements are up to the level of 4 mm (mean deviation of 0.1 +/- 0.2 mm, range 0.7). Once the endometrial thickness reaches 5-6 mm the mean deviation becomes 0.3 +/- 1.2 mm with a range of variation of 4 mm. In conclusion, measurements of endometrial thickness in patients presenting with PMB can be repeated quite accurately up to a level of 4 mm thickness.

A 3 year, prospectively-designed study of late selective multifetal pregnancy reduction.

The aim of our study was to evaluate the pregnancy outcomes of late selective multifetal reduction (MFPR). We performed a 3 year, prospectively-designed study in which 28 patients underwent MFPR at a mean gestational age of 20.2 +/- 3.9 weeks (range 14-29 weeks). The indications for MFPR included: multiple gestation (> or = 3) (57%), structural anomaly (29%), and chromosomal abnormality (14%). The procedure was performed using ultrasonographically-guided intracardiac injection of potassium chloride. The mean gestational age at delivery was 36.6 +/- 2.2 weeks (range 31-40 weeks). Nine patients (32%) delivered before 36 weeks of gestation. The mean birth weight was 2370 +/- 614 g (range 1510-3250 g). Discordancy was evident in four twins (14%), and intrauterine growth retardation in four pregnancies. One case (3.5%) presented with oligohydramnios, and one with pregnancy-induced hypertension. One case of late abortion due to passive cervical dilatation 4 weeks after the MFPR was observed. Procedure-related amnionitis followed by late abortion occurred in one case. A total of 57% of the patients delivered vaginally and 43% delivered by Caesarean section. We concluded that late selective MFPR is associated with favourable perinatal outcome. Late MFPR may facilitate the detection of structural and chromosomal anomalies prior to the procedure, and the accomplishment of selective reduction of the affected fetus.

Vaginal delivery following caesarean section-the use of oxytocin and prostaglandins.

Five hundred and twenty women with one previous caesarean section underwent a trial of labour in our department during the past five years. They were divided into three groups-those receiving oxytocin, those receiving prostaglandins, and those unstimulated who had spontaneous labour. The obstetric outcomes were compared. Rates of vaginal delivery in the three groups were 65%, 67% and 72%, respectively. No mother died and there were no cases of complete uterine rupture. Our results confirm similar reports that vaginal delivery after a previous caesarean section can be safely achieved in about two-thirds of patients. Serious complications are minimal when the use of oxytocin and prostaglandins is carefully monitored.

Doppler velocimetry of the umbilical artery as a predictor of pregnancy outcome in pregnancies characterized by elevated maternal serum alpha-fetoprotein and normal amniotic fluid alpha-fetoprotein.

OBJECTIVE: Women with elevated maternal serum alpha-fetoprotein (MSAFP) and normal amniotic fluid alpha-fetoprotein (AFAFP) are at an increased risk of an adverse pregnancy outcome. Such MSAFP elevations are probably the consequence of transplacental leakage caused by placental abnormalities. These may result in disturbed bloodflow through placental vessels. The purpose of this study was to assess whether measurement of such disturbances by Doppler velocimetry of the umbilical artery has a predictive value for pregnancy outcome. STUDY DESIGN: The study group consisted of 85 patients, in whom the only finding was elevated maternal serum alpha-fetoprotein. Systolic/diastolic (S/D) ratios were calculated using a continuous wave Doppler measurement of the umbilical artery, performed at 6 to 8-week intervals. Serial results for each individual were incorporated into a single 'Velocimetry Score'. RESULTS: In group B (14 patients) with an abnormally elevated umbilical S/D ratio, a higher incidence of intrauterine growth retardation (42.9%), preterm deliveries (78.6%), and fetal loss (42.9%) was noted, as compared with group A (71 patients) with a normal S/D ratio. CONCLUSIONS: Umbilical artery Doppler velocimetry may serve as a predictor of pregnancy outcome in the high-risk group characterized by elevated MSAFP.

Transvaginal ultrasonographic measurements of endometrial thickness: a reproducibility study.

OBJECTIVE: The study was undertaken to assess the reproducibility of endometrial thickness measurements by transvaginal ultrasonography (TVS). METHODS: In a prospective blind study, two examiners measured the endometrial thickness of 25 patients by TVS on two separate occasions 30 minutes apart. RESULTS: The reliability test performed for each examiner was statistically less significant for the intra-observer variation of each observer (r = 0.95 and r = 0.93), than between both examiners (r = 0.85). Although there was no statistically significant difference between the observations, the mean range of observations was 2.12 + 1.27 mm. CONCLUSIONS: A safety margin of error should be taken into consideration while recommending a cutoff under which no curettage is needed.

Fatal encephalitis caused by Ochroconis gallopavum in a domestic cat (Felis domesticus).

Ochroconis gallopavum was identified as the causal agent of fatal encephalitis in a young, short-hair, domestic cat. The cat initially developed an ulcerated mass on the left side of the tongue and signs of pain in the abdomen. The tongue lesion was surgically removed and exploratory abdominal surgery revealed abnormalities suggestive of pancreatitis and peritonitis. During the month after surgery, the cat's health declined, manifested by sluggishness, loss of appetite and abnormal behaviour. Following a final rapid deterioration, the cat became non-responsive and was euthanized. Histologic examination of the brain, lung and mediastinal lymph node lesions revealed large numbers of pigmented, septate, branched, hyphal elements with swollen intercalary and terminal vesicles, and short chains of moniliform hyphal cells. Cultures of the mediastinal lymph nodes yielded a dematiaceous, thermotolerant fungus that was identified as O. gallopavum. This report describes the first well-documented infection in a cat caused by O. gallopavum.

Success rates in in vitro fertilization treatment and its correlation with high titer antibodies for Chlamydia trachomatis.

The prevalence of specific chlamydial IgG and IgA antibodies was determined in 86 infertile women undergoing in vitro fertilization (IVF) and in 56 male partners; 32.5% of women (28 of 86) under investigation had both types of antibodies at a titer of IgG greater than or equal to 1:128 and IgA greater than or equal to 1:16; 9% of their male partners (5 of 56) who were tested were also seropositive. The prevalence of local IgA in semen was 9.6% (5 of 52). Pregnancy was later achieved by IVF in 13 of 32 seropositive and 19 of 32 seronegative women. Our data suggest that high levels of specific antichlamydial antibodies (IgG and IgA) are not correlated with the outcome of IVF-embryo transfer treatment.

Bacterial infection and human fetal wastage.

Twenty-eight of 57 fetuses delivered after intrauterine death were found to have a variety of aerobic and facultative bacteria in the heart, anus, placenta, brain and cerebrospinal fluid. Subclinical maternal bacteremia, possibly originating in the urinary tract, appears to be a common cause of second- and third-trimester fetal demise.

A 90-day vapor inhalation toxicity study of decalin.

A subchronic 90-day inhalation study was conducted to determine the toxic effects of decalin, a commonly used industrial solvent. Experimental groups consisting of male and female beagle dogs, male and female Fischer-344 rats, and female C57BL/6 mice were continuously exposed to decalin concentrations of 5 or 50 ppm. An unexposed control group was also maintained. All dogs and a portion of each rodent group were sacrificed and examined at exposure termination, while the remaining rodents were held for observation up to 21 months postexposure. No distinct exposure-related lesions were noted in dogs. Dog body weights, organ weights, and blood clinical pathology were also normal. At exposure termination hepatocellular cytoplasmic vacuolization was noted in female mice exposed to both concentrations. This liver tissue change was reversible and was not a significant finding in female mice examined during the 21-month postexposure observation period. In male rats, decalin exposure produced nephropathy characterized by hyaline droplets, necrosis, and intratubular casts. Accentuated tubular degeneration and medullary mineralization were noted in exposed rats held for long-term postexposure observation. There was no associated abnormal increase in mortality nor alterations in serum, blood urea nitrogen, or creatinine levels. Female rats were free of decalin-induced renal damage. There was a slightly greater incidence of commonly occurring pituitary tumors in both mice and rats; however, the tumor incidence was not dose related. The results of this study suggest that the toxic effects of decalin are similar to those previously described for other hydrocarbon solvents and fuels.

Typhoid fever complicating pregnancy.

Typhoid fever in pregnancy may result in infection of the fetus, with consequent abortion. Currently, it is a rare complication of pregnancy in the industrially developed countries. This report documents a case of maternal typhoid fever with septic abortion, in which trans-placental infection of the fetus caused its demise.

Six month inhalation toxicity of fluomine dust.

Fluomine is a cobalt chelate of interest in life support systems of high altitude aircraft. Rats, mice, guinea pigs and dogs were exposed to fluomine particles for a six month period on an industrial-type schedule. Chronic exposure of the dust caused a statistically significant decrease in the mean body weights of the test rats when compared to their respective control group. The dust had irritative effects on the respiratory systems of rats and dogs at the highest exposure level. A concentration of 0.1 mg/m3 is a suggested threshold limit at or below which no serious effects should occur.

The mammalian toxicity of fluomine dust.

Fluomine is a cobalt chelate compound which complexes molecular oxygen and releases it on heating. This property has led to its use a a regenerable oxygen source in high-altitude aircraft. Investigations into the acute effects of exposure to fluomine by various routes were undertaken as first steps in the toxicological characterization of the material. Single-dose rat and mouse oral administration led to LD50 values of 123 mg/kg for male CF1 mice and 187 mg/kg for male Sprague-Dawley rats. The LC50 values for single four-hour inhalation periods varied from 112 mg/m3 for male rats to 416 mg/m3 for male mice. Fluomine proved to be highly irritating when instilled in the eyes of rabbits and to the lungs of rats on inhalation. Exposure of rabbit skin to the compound demonstrated moderate irritancy particularly in areas of abrasion. Positive reactions to intradermal challenge were demonstrated after both intradermal and inhalation sensitization of guinea pigs.

An epizootic of necrotic dermatitis in laboratory mice caused by Lancefield group G streptococci.

During a 7-mo period, mice from a group of 383 being used in a toxicology experiment developed severe progressive necrotic dermatitis, and some animals developed paralysis. The overall mortality rate for the group was 134/383 (35%). Seventeen mice were necropsied for bacteriologic and histopathologic examination. A streptococcus identified as Lancefield group G was isolated from the skin lesions of 15 of the mice, from 8 of 9 throats cultured, from 4 of 8 spleens, and occasionally from other sites. It was thought that the infections were initiated and perpetuated by bites from mice carrying the streptococcus in their mouth and throats. Microscopic examination of affected skin revealed necrotic dermatitis characterized by epithelial ulceration with suppuration. The skin lesions were reproduced in 6 of 15 mice inoculated with the isolated streptococcus.

Hepatic lesions in mice after continuous inhalation exposure to 1,1,1-trichloroethane.

Male CF-1 mice (24 to 34 gm.) were exposed to either 250 p.p.m. or 1000 p.p.m. of 1,1,1-trichloroethane in air continuously for 14 weeks. Control mice were exposed to room air. Serial sacrifice of exposed and control mice from 1 to 14 weeks demonstrated significant changes in the centrilobular hepatocytes of animals in the 1000 p.p.m. group. Moderate liver triglyceride accumulation was evident in the 1000 p.p.m. group and peaked at 40 mg. per gm. of tissue (wet weight) after 7 weeks of exposure. Partial recovery was indicated by a decrease in the hepatic triglyceride level of 16 mg. per gm. by 14 weeks of exposure to 1000 p.p.m. Electron microscopic evaluation revealed that cytoplasmic altertions were most severe in centrilobular hepatocytes in the 1000 p.p.m. group and were mild to minimal in the 250 p.p.m. group. These alterations consisted of vesiculation of the rough endoplasmic reticulum, with loss of attached polyribosomes, increased smooth endoplasmic reticulum, microbodies, and triglyceride droplets. Some cells had ballooned cisternae of the rough endoplasmic reticulum. Necrosis of individual hepatocytes occurred in 40 per cent of the mice exposed to 1000 p.p.m. for 12 weeks. This necrosis was associated with an acute inflammatory infiltrate and hypertrophy of Kupffer cells. Comparison of these findings to the results obtained by other investigators studying dichloromethane indicates that the pathologic alterations observed with 1,1,1-trichloroethane were similar to those observed with dichloromethane, except for different time courses of the effects and different degrees of recovery. The toxic effects of 1,1,1-trichloroethane were of a type similar to those produced by carbon tetrachloride, but they appeared to be much less severe.