Fryns syndrome: prenatal diagnosis and pathologic correlation

From 1988 to 1995, 96 patients (161 feet) underwent a modified Mitchell distal metatarsal osteotomy performed for mild-to-moderate hallux valgus. On AP x-rays of the standing foot, the average intermetatarsal angle was corrected from 15 degrees to 9 degrees, and the first metatarsophalangeal angles were corrected from an average of 41 degrees to 15 degrees. Criteria for evaluation of clinical results included relief of pain, appearance of foot, and shoe wear. After an average follow-up of 38 months, the overall satisfaction rate was 92.5%. Complications included 13 pin tract infections, two delayed unions, and two correction losses. The most common late sequela was transfer metatarsalgia of the lesser toes, which occurred in 20 feet (12.4%), leading to some dissatisfaction. The Mitchell osteotomy can be used on cases with less than 20 degrees of intermetatarsal angle, offering a stable construct with easy postoperative care.     

Karyotyping of fetal cells in the prenatal diagnosis in Costa Rica

The results of 182 genetic amniocenteses between 14 and 37 weeks gestation, from 1986 to 1992, and of two cordocenteses in 1992, are reported. There were two main reasons for referral: maternal age 35 years and older and abnormal ultrasound assessment. Fetal cells were closed cultured and mass harvested. In 3.7% of cases fetal chromosomes were defective. Turn around time was about three weeks up to and including 1991 and two weeks in 1992, culture failure rate was 7% that year. No cytogenetic misdiagnosis and no complication or sequelae related to the amniocenteses were detected. We conclude this is a safe and reliable procedure to obtain fetal karyotypes and to improve obstetric management of high-risk pregnancies.     

Early antenatal ultrasound diagnosis of fetal intracranial teratoma

The commonest fetal intracranial tumour is a teratoma. The prognosis is poor with death usually occurring shortly after birth. Modern high resolution ultrasound scanners facilitate examination of the cranial contents, allowing earlier diagnosis. We report a case where an intracranial teratoma was identified at 21 weeks gestation, the earliest gestational age that this has been reported. The ultrasound appearances are discussed.     

Subependymal pseudocysts: ultrasound diagnosis and findings at follow-up

During a two-year period, subependymal pseudocysts were diagnosed in 24 infants using cranial ultrasound: 8 were located at the external angle of the lateral ventricle and 16 at the caudothalamic notch. Associated congenital anomalies were present in six infants and CMV was isolated in one case. Four of the eight infants with pseudocysts at the external angle were one half of twins. As all but one of the surviving infants with pseudocysts were normal at follow-up (at 3-24 months of age), it is important to make a distinction between pseudocysts and extensive cystic periventricular leukomalacia, as the latter condition invariably leads to cerebral palsy and/or visual impairment.     

Intrahepatic vein fetal blood sampling: current role in prenatal diagnosis

We present our experience with the use of ultrasonography in the assessment of suspected primary or recurrent bone tumours of the appendicular skeleton and pelvis in 73 patients. Ultrasound can effectively assess the extraosseous component of malignant and aggressive benign lesions and those tumours arising from the surface of the bone. Periosteal reaction, cortical destruction, pathological fracture, matrix mineralization, fluid-fluid levels and involvement of the neurovascular bundle are all identified. Despite this, we could not identify any advantage of ultrasound compared to plain radiography or magnetic resonance imaging in diagnosis and local staging. However, ultrasound was found to be of great value in guiding percutaneous needle biopsy.     

Sequential changes of sonographic and computed tomography findings in the normal rabbit liver after percutaneous ethanol injection. Correlation with pathologic findings

BACKGROUND: A neural network computer model described in a companion paper predicted the effects of increased dopamine transmission on selective attention under two different hypotheses. METHODS: To evaluate these predictions we conducted an empirical study in human subjects of D-amphetamine effects on performance of the Eriksen response competition task. Ten healthy volunteers were tested before and after placebo or D-amphetamine in a double-blind cross-over design. RESULTS: D-amphetamine induced a speeding of reaction time overall and an improvement of accuracy at fast reaction times but only in the task condition requiring selective attention. CONCLUSIONS: This pattern of results conforms to the prediction of the model under the hypothesis that D-amphetamine primarily affects dopamine transmission in cognitive rather than motor networks. This suggests that the principles embodied in parallel distributed processing models of task performance may be sufficient to predict and explain specific behavioral effects of some drug actions in the central nervous system.     

Impact of prenatal mid-trimester screening on the prevalence of fetal structural anomalies: a prospective epidemiological study

The objective of this study was to evaluate the effectiveness of the measurement of maternal serum alpha-fetoprotein (MSAFP) at 16 weeks and a subsequent routine ultrasound screening at 18-20 weeks' gestation and the impact on the birth prevalence of congenital structural anomalies in an unselected pregnant population of Hungary in a prospective epidemiological study. A total of 63,794 pregnant women (representing one-sixth of the population of Hungary) were offered this screening program over 3 years (1988-90). Of the pregnant population, 75.7% (48,312) received MSAFP screening and in 81.0% (51,675), at least one ultrasound scan was performed. In the screened pregnancies, 496 craniospinal, thoraco-abdominal, urogenital and other severe major anomalies occurred; 317 were detected at 18-20 weeks (sensitivity 63.1%; specificity 100.0%; positive predictive value 100.0%). The sensitivity of ultrasound scanning was significantly higher (p < 0.05) than that of the MSAFP screening. (At the time of ultrasound scanning the MSAFP value was known.) In this study, the less serious anomalies such as hydrocele, hypospadias and undescended testicle were not systematically searched for, but the birth prevalences were calculated. The overall mid-trimester prevalence of severe plus less severe major anomalies was 2.26%. The birth prevalences of severe major anomalies were 0.57 (craniospinal), 4.36 (thoracoabdominal and urogenital) and 1.21 (other severe) per 1000. These values were lower than the mid-trimester prevalences which were 2.94, 5.20 and 2.06 per 1000, respectively. The prevalence values at the age of 1 year were also calculated (0.36, 2.21, 0.54 per 1000, respectively). We conclude that our screening program with availability of termination of pregnancy could significantly (p < 0.05) reduce the prevalence of severe major abnormalities at birth. Training programs in cardiac scanning are required.     

Volume scanning in the evaluation of fetal malformations: a new dimension in prenatal diagnosis

Three-dimensional ultrasound examination was performed in 204 patients with a fetal malformation detected by conventional ultrasound. The patients were examined between 13 and 40 weeks of gestation. The ultrasound equipment used was a Combison 330 and a Combison 530 (Kretztechnik, Austria) with an abdominal Voluson sector transducer (3.5/5 MHz) (Kretztechnik, Austria). This ultrasound system can provide a high-quality three-dimensional surface or translucency image of fetal structures similar to that of a photograph or an X-ray image within seconds without an additional expensive work-station. Of the 204 patients examined with three-dimensional ultrasound, this technique proved advantageous in demonstrating fetal defects in 62% (127/204). In 36% (73/204), the three-dimensional technique gave the same information and in four fetuses with a cardiac malformation (2%), the three-dimensional technique was disadvantageous, due to movement artefacts during data acquisition. The technical advantages and problems of this three-dimensional technique are demonstrated.     

Diagnosis of fetal renal anomalies

Urinary tract abnormalities are fairly common in the perinatal period. Ultrasonography is an effective diagnostic tool for identifying fetal urinary tract anomalies and can be helpful in establishing prognosis and guiding treatment decisions. The sonographer is encouraged to characterize and localize the fetal urinary tract abnormality when identified. In doing so, the correct diagnosis can be selected from the differential possibilities, providing vital clinical information needed to develop a care plan for both the pregnant woman and her fetus.     

Clinical and pathologic findings in hemochromatosis hip arthropathy

During a 9-year period, 15 patients with hemochromatosis hip arthropathy required 19 total hip arthroplasties for disabling hip pain. Preoperative presentation, hip function, pathologic evaluation of the femoral head, and radiographic findings were reviewed. Postoperative followup averaging 5.7 years (range, 2-11 years) was performed to assess hip pain and function after total hip arthroplasty. The average preoperative Hospital for Special Surgery hip score was 15 points (range, 4-24 points), and this improved to 30 points (range, 4-38 points) after total hip arthroplasty. Only one of 15 patients required revision surgery at 10 years for acetabular loosening. All other patients were pain free, with improved function at latest followup. Histologic evaluation of the resected femoral heads revealed evidence of primary or secondary osteonecrosis in seven of 19 (37%) specimens. Articular cartilage avulsion at the level of the tidemark was identified in eight of 19 (42%) specimens, and calcium pyrophosphate deposition was identified in five of 19 (26%) specimens. These pathologic findings suggest a predictable progression of the arthritic process in patients with hemochromatosis.     

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis

We have developed a real-time quantitative PCR assay to measure the concentration of fetal DNA in maternal plasma and serum. Our results show that fetal DNA is present in high concentrations in maternal plasma, reaching a mean of 25.4 genome equivalents/ml (range 3.3-69. 4) in early pregnancy and 292.2 genome equivalents/ml (range 76. 9-769) in late pregnancy. These concentrations correspond to 3.4% (range 0.39%-11.9%) and 6.2% (range 2.33%-11.4%) of the total plasma DNA in early and late pregnancy, respectively. Sequential follow-up study of women who conceived by in vitro fertilization shows that fetal DNA can be detected in maternal serum as early as the 7th wk of gestation and that it then increases in concentration as pregnancy progresses. These data suggest that fetal DNA can be readily detected in maternal plasma and serum and may be a valuable source of material for noninvasive prenatal diagnosis.     

Tips in diagnosing fetal skeletal anomalies

Target set size refers to the number of preexisting connections a studied word has to closely related concepts in long-term memory. The purpose of this investigation was to determine whether target set size influences feeling-of-knowing (FOK) ratings. The results showed that ratings were higher for targets connected to smaller sets, as compared with those connected to larger sets. Comparable effects were obtained with the use of different encoding strategies, including concreteness classifications and vowel naming, and with both meaningfully and phonologically related test cues. These findings indicate that FOKs are sensitive to competition between concepts linked to the target and that this sensitivity is independent of encoding strategy and type of test cue. Response time measures indicated that FOKs are sensitive to competition that arises when concepts are activated in parallel, whereas recall is more sensitive to competition that arises during sampling associated with search. Implications for various cue-based and target-based explanations of FOK effects are discussed.     

Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis

The aim of this study was to identify the prevalence of homebound elderly (defined as people whose daily activities were limited to their home) and factors related to it among 300 community elderly residents aged 60 and over in Yamagata city. In 1995, the baseline survey was performed and the follow-up survey was conducted one year later. Subjects were divided into two groups according to the extent of their daily activities: the non-homebound group (defined as people whose daily activities extended into their community) and the homebound group. The main results were as follows; 1. The prevalence of homebound elderly was 7.7% in 1995. 2. Chi-square test or t test was performed to examine the relationship between homebound and various factors. Significant factors were age, history of hypertension, history of mental disease, incompetence of ADLs (walking, eating, toileting, bathing, dressing), interpersonal dependency, subjective health, 'ikigai' (meaningfulness of life), life style (cooking, cleaning, reading newspaper or magazine, watching TV, exercise, associate with friend) and TMIG (Tokyo Metropolitan Institute of Gerontology) index of competence. The present study reveals that daily activities in community elderly residents is related to not only physical factors but also psychosocial factors. Using the significant variables in univariate analysis, multiple logistic regression analysis controlling for age was performed. Significant factors for homebound were incompetence of ADLs (walking, toileting), subjective health and TMIG index of competence. 3. Three out of 214 non-homebound elderly persons in 1995 changed to homebound in 1996.     

Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals

Cerebellar granule cells (CGC) at different stages of maturation in vitro (1 or 6 DIV), were treated with beta 25-35 and acetyl-L-carnitine arginine amide (ST857) in presence of 25 mM KCl in the culture medium, and neuronal viability was assessed. Three days of treatment slightly modified the survival of 1 DIV-treated cells, which degenerate and die five days later beta-amyloid matching. Similarly, a significative neurotoxic effect was observed on 6 DIV treated-cells after 5 days of exposure to the peptide, while the death occurred within 8 days. ST857 coincubated with beta 25-35 was able to rescue neurons from beta 25-35-induced neurotoxicity. We also studied the changes in Ca2+ homeostasis following glutamate stimulation, in control and beta-amyloid treated single cells, either in presence or in absence of ST857. beta 25-35 did not affect basal [Ca2+]i, while modified glutamate-induced [Ca2+]i increase, causing a sustained plateau phase of [Ca2+]i, that persisted after the removal of the agonist. ST857 pretreatment completely reverted this effect suggesting that, in CGC chronically treated with beta 25-35, ST857 could protect the cells by neurotoxic insults of the peptide likely interfering with the cellular mechanisms involved in the control of Ca2+ homeostasis.     

Hallervorden-Spatz disease: MR and pathologic findings

PURPOSE: To compare the MR findings of eight cases with clinical diagnosis of Hallervorden-Spatz disease (HSD) with the pathologic findings of two other cases of HSD. MATERIALS AND METHODS: The eight imaged cases were studied with 0.5-T (seven cases) and/or 1.5-T (five cases) units. Six patients also had CT scans. The two other cases with proven HSD had detailed histologic evaluation. RESULTS: The 1.5-T findings showed abnormalities confined to the pallidum, which presented a diffuse low signal intensity in T2-weighted images, and an anteromedial area of high signal intensity (eye-of-the-tiger sign). In 0.5-T studies, low signal intensity was less evident and poorly detectable in spin echo, but gradient-echo images could enhance its demonstration; the area of high signal intensity was always well demonstrated. In three cases (three with 1.5 T, one with 0.5 T) a central spot of low signal intensity was seen in this area. The pathologic cases, in addition to neuroaxonal swellings and iron deposits, exhibited areas of "loose" tissue with vacuolization and lesser amounts of iron in the anteromedial part of the pallidum, in a location corresponding to the area of high signal intensity of the imaged cases. CONCLUSION: Comparison of MR findings with the pathologic studies demonstrates that the low signal intensity in T2-weighted images at 1.5 T corresponds to iron deposits in a dense tissue, and that the high signal intensity of the eye-of-the-tiger sign corresponds to an area of loose tissue with vacuolization. No correlation was found in the two pathologic cases for the central spot of low signal intensity.     

Magnetic resonance imaging of normal and pathologic fetal brain

A total of 78 pregnant patients who had previously been studied by ultrasound (US) underwent magnetic resonance (MRI) because of suspected fetal abnormality. The first 20 cases were performed using fetal curarization. Even in the 27 cases in which the MR examination concerned other body regions, a brain study was always performed to analyze the normal anatomy at different gestational ages. There is a brief discussion on normal MRI anatomy of the fetal brain. There were 45 studies that concerned central nervous system pathology, and the most frequent malformative and neoplastic disorders were revealed. A comparison between MRI and US is proposed for each. In conclusion, MRI can be regarded as a complementary method that can be helpful in the rare cases when the US diagnosis is doubtful.     

Cytogenetical problems in prenatal diagnosis

The effects of Microfibrillar Collagen Hemostat (MCH) and Gelfoam after surgical implantation into incision sites of the liver, kidney, and brain were studied in beagle dogs, rabbits, and beagle dogs, respectively. The results of these experimental animal studies suggest that MCH is comparable to Gelfoam with respect to biocompatibility, rate of bioassimilation, and a lack for adverse systemic effects. The brain, liver, and kidney tissues responded comparably to MCH and Gelfoam with a mild to moderate infiltration of macrophages and mononuclear cells. Most of the hemostatic compound had disappeared from the incision sites by Day 28 and completely disappeared by Day 84. The tissue degree response was interpreted as a factor in the process of bioassimilation of the two hemostatic materials. Both hemostatic compounds contributed to adhesion formation in the experimental models. The incidence of adhesions was somewhat lower for MCH than for Gelfoam, but both produced more adhesions than were found at the control sites. The adhesions were only to the adjacent structures and always localized to the surgical site. When MCH or Gelfoam is used under conditions similar to those in the present experimental study, where tissue approximation is impaired, and where growth of granulation tissue is stimulated by the physical presence of the hemostatic compound, there is the possibility for increased incidence of adhesion formation. However, when an intraperitoneal absorbable hemostatic compound is desired, the present studies in experimental animals suggest that MCH will be safe by exhibiting minimal tissue reaction.     

Pulmonary carcinosarcoma: radiologic and pathologic findings in three patients

OBJECTIVE: The purpose of this study was to describe the radiologic and pathologic features of pulmonary carcinosarcoma in three patients. CONCLUSION: The tumors measured 9-14 cm in diameter, had inhomogeneous contrast enhancement, and in two cases had invaded the mediastinum or chest wall extensively. Carcinosarcomas are rare tumors that tend to be large, necrotic, enhancing, and locally invasive.