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Biomedical subjects

H M Zonderland

Publications and source records attributed to H M Zonderland.

At least 19 recordsLinked to original sources

Tumor characteristics and detection method in the MRISC screening program for the early detection of hereditary breast cancer.

In the MRISC study, women with an inherited risk for breast cancer were screened by a 6-month clinical breast examination (CBE) and yearly MRI and mammography. We found that the MRISC screening scheme could facilitate early breast cancer diagnosis and that MRI was a more sensitive screening method than mammography, but less specific. In the current study we investigated the contribution of MRI in the early detection of breast cancer in relation to tumor characteristics. From November 1999 to October 2003, 1909 women were included and 50 breast cancers were detected, of which 45 were evaluable and included in the current study. We compared the characteristics of tumors detected by MRI-only with those of all other (non-palpable) screen-detected tumors. Further, we compared the sensitivity of mammography and MRI within subgroups according to different tumor characteristics. Twenty-two (49%) of the 45 breast cancers were detected by MRI and not visible at mammography, of which 20 (44%) were also not palpable (MRI-only detected tumors). MRI-only detected tumors were more often node-negative than other screen-detected cancers (94 vs. 59%; P=0.02) and tended to be more often <or=1 cm (58 vs. 31%; P=0.11). MRI was more sensitive than mammography for a wide spectrum of invasive tumor characteristics i.e., size, nodal status, histology, grade and ER status. Half of the breast cancers detected in this study were visible by MRI only and these tumors were smaller and significantly more often node-negative than other screen-detected tumors, suggesting that MRI makes an important contribution to the early detection of hereditary breast cancer.

Breast Neoplasms↗

Ultrasound variables and their prognostic value in a population of 1103 patients with 272 breast cancers.

In a prospective two-centre study targeted US was performed as an adjunct to mammography in a population of 1103 patients with 272 breast cancers, 517 benign lesions and no abnormalities in 314 patients. The purpose of the study was to analyse the distribution of the different US variables among the breast lesions and to determine the prognostic value of these variables with respect to the diagnosis of malignancy. The following variables were analysed: border; contour; orientation; structure; echogenicity; sound transmission; and size. These variables were correlated with the definitive diagnosis and univariate analysis was performed. A statistically significant association with breast cancer (p < 0.001) was present for irregular border; ill-defined contour; indeterminate or vertical orientation; homogeneous, complex or heterogeneous structure; hypoechogenicity; and unchanged or decreased sound transmission. Multivariate analysis showed a high independent prognostic value for malignancy for irregular border, followed by ill-defined contour and unchanged or decreased sound transmission. However, their discriminative power was not absolute: in 38 cancers none of the malignant US variables were present, and in 11 benign lesions all variables were present. There were hardly any benign-looking lesions that proved to be malignant.

Adult↗

The role of ultrasound in the diagnosis of breast cancer.

Ultrasonography (US) of the breast is not applied to its optimal capacity if it is restricted to the differentiation between cystic and solid lesions and evaluation of dense breasts. It can play a major role in the detection of breast cancer; not only because of detection of mammographically occult lesions but also because of more accurate identification of lesion characteristics suspicious of malignancy. Its yield is highest among women younger than 50 years. However, one should keep in mind that the profit obtained by US shows not only the diagnostic accuracy of US but also that of mammography. Further improvement can be achieved by refinement in US diagnosis, especially with respect to the US characteristics of diffusely growing cancers.

Breast Neoplasms↗

Etiology of nephrocalcinosis in preterm neonates: association of nutritional intake and urinary parameters.

BACKGROUND: Nephrocalcinosis (NC) in preterm neonates has been described frequently, and small-scale studies suggest an unfavorable effect on renal function. The etiologic factors have not yet been fully clarified. We performed a prospective observational study to identify factors that influence the development of NC. METHODS: The study population consisted of 215 preterm neonates with a gestational age <32 weeks. Clinical characteristics and intake in the first four weeks of calcium, phosphorus, vitamin D, protein, and ascorbic acid were noted. Serum calcium, phosphate, vitamin D, magnesium, uric acid, creatinine, urea and urinary calcium, phosphate, oxalate, citrate, magnesium, uric acid, and creatinine were assessed at four weeks of age and at term. Renal ultrasonography (US) was performed at four weeks and at term. At term was defined as a postconceptional age of 38 to 42 weeks. RESULTS: NC was diagnosed by means of US in 33% at four weeks and in 41% at term. Patients with NC at four weeks had a significantly higher mean intake of calcium (P < 0.05), phosphorus (P < 0.05), and ascorbic acid (P < 0.01) than patients without NC. They had a higher mean serum calcium (2.55 vs. 2.46 mmol/L, P < 0.01) and a higher mean urinary calcium/creatinine ratio (2.6 vs. 2.1 mmol/mmol, P < 0.05). Patients with NC at term had a lower birth weight (1142 vs. 1260 g, P < 0.05) and a lower gestational age (28.8 vs. 29.4 weeks, P < 0.05), were treated significantly longer with furosemide, dexamethasone, theophylline, and thiazides, developed chronic lung disease more frequently (40 vs. 16%, P < 0.001), and had a higher mean urinary calcium/creatinine ratio (2.7 vs. 2.3 mmol/mmol, P < 0.05) and a lower mean urinary citrate/calcium ratio (1.1 vs. 1.7 mmol/mmol, P = 0.005). CONCLUSIONS: NC develops as a result of an imbalance between stone-inhibiting and stone-promoting factors. A high intake of calcium, phosphorus, and ascorbic acid, a low urinary citrate/calcium ratio, a high urinary calcium/creatinine ratio, immaturity, and medication to prevent or treat chronic lung disease with hypercalciuric side effects appear to contribute to the high incidence of NC in preterm neonates.

Ascorbic Acid↗

Ultrasonographic features of nephrocalcinosis in preterm neonates.

Nephrocalcinosis (NC) in preterm neonates has been reported frequently and small studies suggest an unfavourable effect on renal function. Data on ultrasonic features are limited and the reproducibility of ultrasonography (US) in detecting NC in preterm neonates is unknown. In this study, interobserver and intraobserver agreement of US was determined through videotape recordings of US examinations of preterm neonates. Furthermore, a prospective US study was performed in 215 preterm neonates (gestational age < 32 weeks) to evaluate ultrasonic characteristics, incidence, time course and effect on kidney length of NC. Patients were studied at 4 weeks after birth and at term. Patients with NC were followed for 2 years. NC was defined as bright reflections in the medulla or cortex seen in both transverse and longitudinal direction. The length of the kidneys was noted. The kappa value was 0.84 for intraobserver and 0.46 for interobserver agreement, whereas the overall agreement was 73%. NC was found in 50 of 150 (33%) patients at 4 weeks and in 83 of 201 patients (41%) at term. NC was localized mainly in the medulla. At 1 and 2 years, NC had persisted in 36% and 26%, respectively, of the patients with NC at term. Kidney length was comparable with normal values. In conclusion, US has a very good intraobserver agreement but a moderate interobserver agreement in detecting NC. Medullary NC is common among preterm neonates. During the first 2 years of life, the incidence decreases spontaneously and NC does not influence kidney length.

Follow-Up Studies↗

Diagnosis of breast cancer: contribution of US as an adjunct to mammography.

PURPOSE: To determine the value of ultrasonography (US) as an adjunct to mammography for the diagnosis of breast cancer. MATERIALS AND METHODS: In a 2-year prospective study, 4,811 mammograms were classified according to level of suspicion of malignancy. Targeted US was performed to analyze (a) circumscribed lesions, possibly cysts; (b) palpable lesions visible at mammography; (c) palpable lesions not visible at mammography; and (d) nonpalpable lesions visible at mammography. After US was performed in 1,103 cases (23%), cases were reclassified for level of suspicion. RESULTS: In 338 cases, breast cancer was diagnosed. The sensitivity of mammography for all 4,811 cases was 83%; the specificity was 97%. After US, the combined sensitivity increased to 91%, with a specificity of 98%. The increase was significant (P < .001). The increase in sensitivity was highest among women younger than 50 years. The positive predictive value for mammography was high (72%), which reflects a high threshold for biopsy; this may have augmented the yield of US. CONCLUSION: The use of US as an adjunct to mammography resulted in an increase in diagnostic accuracy. Its contribution to the diagnosis of breast cancer in this study was 7.4%.

Adult↗

Radiation burden to paediatric patients due to micturating cystourethrography examinations in a Dutch children's hospital.

Micturating cystourethrography (MCU) examinations of paediatric patients in a major Dutch children's hospital (JKZ) were evaluated to generate quantitative information on effective dose (E). A standard examination involves three radiographs plus fluoroscopy. Observed total dose-area product (DAP) for 84 children increased, on average, with increasing age class from 0.2 to 2.2 Gy cm2. In 11 cases, separate DAP per view was measured; enabling determination, per view, of organ (CF) and effective (CE) dose conversion factors, i.e. dose per unit of DAP. Monte Carlo simulation of photon transport in male and female mathematical phantoms was applied for newborn, 1 year, 5 year, 10 year and 15-year-old patients, and interpolated for other ages. CE per view decreases with increasing age class, yielding about a factor of 10 difference between the extremes of the range. Female values are usually some 20-30% above male ones. CE for one of the views appeared to be representative for the complete examination and was used to estimate total E for each patient. Averaged per age class, E remains approximately constant at 0.3-0.4 mSv, although a tendency to increase with increasing age exists, for females in particular. Within an age class, individual patients may differ in E by a factor of two up to six. Stomach, lower large intestine, bladder wall, liver and ovaries receive relatively high doses. Compared with published data and DAP measured in a few other Dutch hospitals, the radiation burden of MCU is low at the JKZ. This indicates a good degree of optimization with respect to radiation protection (e.g. modern equipment, increased tube voltage, fast film-screen combination).

Adolescent↗

Local recurrence after breast-conserving therapy for invasive breast cancer: high incidence in young patients and association with poor survival.

PURPOSE: To study risk factors for local recurrence (LR) after breast-conserving therapy (BCT) for invasive breast cancer and, for patients with an LR, the mode of detection, location, treatment, influence of radiation therapy, and impact on survival. METHODS AND MATERIALS: 1360 patients (median age 52 years; range 24-88) with a total of 1393 pT1-2 N0-1 tumors treated with BCT between 1980-1994 were studied (median follow-up 52 months). The adequacy of radiation treatment of the patients developing LR was studied in a quality control study. The impact of LR on overall survival and distant metastasis was studied in a Cox regression model with LR as a time-dependent covariate. RESULTS: A total of 88 LR occurred with a 5- and 10-year LR risk of 8 and 12%. Age was the only significant risk factor. Compared to patients > 65 years old, patients < 45 years old and patients 45-65 years old had a relative risk (RR) of 4.09 and 2.41, respectively, of developing LR. Risk on LR was found to increase gradually with younger age. Radiation therapy was considered adequate and did not play a role in influencing the LR rate. Almost 65% of the LR were true or marginal recurrences. Of all LR, 80% appeared during the first 5 years and were detected with equal frequency by the patient herself, the physician, and annual mammography. LR was a major predictor for distant metastasis (RR: 4.90; 3.15-7.62) and death (RR: 4.29; 2.93-6.28). CONCLUSION: Young age is a major risk factor for LR and there is a significant gradual increase in LR with decreasing age. LR is associated with a higher risk of distant metastasis and death. Whether LR is the cause of or a marker for distant metastasis remains unresolved.

Adult↗

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autosomal recessive osteochondrodysplasia. A peak LOD score of 5.1 at recombination fraction 0 was obtained with fully informative markers on human chromosome 9. In three of the four families, the affected offspring are products of consanguineous marriages; if it is assumed that these affected offspring are homozygous by descent for the region containing the AMDM locus, a 6.9-cM AMDM candidate interval can be defined by markers D9S1853 and D9S1874. The mapping of the AMDM locus to human chromosome 9 indicates that AMDM is genetically distinct from the two other mapped acromesomelic dysplasias, Hunter-Thompson type and Grebe type, which are caused by mutations in CDMP1 on human chromosome 20.

Bone and Bones↗

Local recurrence of a phyllodes tumour of the breast presenting with widespread differentiation to a telangiectatic osteosarcoma.

Osteogenic sarcomas of the breast are extremely rare and need to be distinguished from a variety of breast lesions producing metaplastic bone. A 50 year old patient presented with a painless lump in her right breast after twice previously having undergone local excision of a phyllodes tumour at this site. Following radiological and cytological investigation, excision was advised. Histology showed focal remnants of the previously excised phyllodes tumour in continuity with areas of widespread differentiation towards a telangiectatic osteosarcoma. So far this is a unique morphological endpoint.

Breast Neoplasms↗

The Catel-Manzke syndrome in a female infant.

Catel-Manzke syndrome in a female infant: We describe a girl with typical features of the Catel-Manzke syndrome. Although most cases described are boys, X-linked inheritance is not very likely now at least four females with this syndrome have been described.

Abnormalities, Multiple↗

Pulmonary function in infants with neonatal chronic lung disease with or without hyaline membrane disease at birth.

We studied whether neonatal chronic lung disease (NCLD), hyaline membrane disease (HMD) and differences in ventilatory support affected pulmonary function during the first year of life, in 65 infants born prematurely. The relationship between body weight and oxygen consumption (V'O2) was also analysed. The study comprised 14 infants without cardiorespiratory disease, 19 infants with HMD but without NCLD, 9 infants with NCLD without prior HMD, and 23 infants with NCLD following HMD. At 6 and 12 months corrected postnatal age, static respiratory system compliance (Crs) was measured by weighted spirometry and the functional residual capacity by closed circuit helium dilution (FRCHe) combined with assessment of ventilation distribution from the mixing index (MI). Ventilatory support during the first 5 days of therapy was quantified from peak inspiratory pressure (PIP), mean airway pressure (MAP) and fractional inspiratory concentration of oxygen (FI,O2). Infants with NCLD had a shorter duration of gestation and lower birth weight than those without NCLD (Wilcoxon, p=0.002 and p=0.001, respectively). Pulmonary function at 6 and 12 months corrected age was not different between NCLD infants with or without HMD at birth. Infants with NCLD had lower Crs and MI than those without NCLD (analysis of variance (ANOVA), p<0.011), but their FRCHe was not different. V'O2 adjusted for body weight was comparable in the four groups. PIP and FI,O2 were higher (Wilcoxon, p<0.01) in the NCLD infants than in those with HMD alone, but MAP was not different. Except for FI,O2, these indices were not different among the infants with NCLD. We conclude that birth weight is the major determinant of the development of neonatal chronic lung disease. At 6 and 12 months corrected age, the abnormal pulmonary function is not associated with prior hyaline membrane disease.

Birth Weight↗

[Preoperative needle biopsy: an improvement in palpable breast tumors with strong indications for malignancy].

OBJECTIVE: To assess the value of needle core biopsy to replace frozen sections in palpable breast masses highly suspicious for malignancy. DESIGN: Cohort study. SETTING: University Hospital Leiden, the Netherlands. METHOD: In 274 patients with 279 palpable breast masses a needle core biopsy was performed in addition to the triple diagnostic approach (i.e. physical examination, imaging by mammography and ultrasound and cytologic examination), if highly suspicious for malignancy. The core biopsy was performed by means of a 18-gauge needle in 89 lesions guided by palpation and in 190 lesions under ultrasound guidance. The results were compared with the final diagnosis: 19 benign lesions and 260 malignant lesions. RESULTS: In 63 lesions the results of the triple diagnostic approach were unequivocally malignant, this was confirmed in all cases. In 208 lesions the results of the needle core biopsy were malignant, without false positive results. However, there were 3 false negative results. The proportion of inconclusive needle core biopsies was higher when performed on palpation (35%) than when performed under ultrasound guidance (7%). When the specimen showed non-invasive carcinoma, a reliable prediction of invasion was not possible. In 264 cases excision of the lesion was performed. Given the unequivocally malignant triple diagnostic approach in 59 cases of the 264 patients operated (22%) frozen sections were not performed. By addition of needle core biopsy this percentage rose to 74%. CONCLUSION: Needle core biopsy is an important additional tool in the preoperative work-up of breast masses highly suspicious for malignancy, in order to reduce the number of frozen sections.

Biopsy, Needle↗

Pulmonary function during the first year of life following acute viral bronchiolitis.

It has been suggested that acute viral bronchiolitis in infants may result in functional changes that predispose toward chronic pulmonary disease later in life. We assessed pulmonary function (PF) during the acute phase of viral bronchiolitis in infants and up to 12 mo later from static respiratory system compliance (Crs), using weighted spirometry, the distribution of ventilation by the mixing index (MI), and the functional residual capacity (FRC) measured by closed-circuit helium dilution (FRCHe). The study was performed in 24 infants (13 males and 11 females; median [25 to 75% range] age: 11 [9.6 to 13.3] wk; weight: 4.8 [4.3 to 5.0] kg; crown-to-heel length: 57.7 [55.5 to 59.0] cm) at admission and at 2 wk. In 17 infants, measurements were repeated 3 mo and 12 mo later. Predicted values and individual 95% prediction intervals for Crs, MI, and FRCHe were derived from 69 healthy infants (33 boys and 36 girls; median age [25 to 75% range]: 4.7 [2.0 to 21.4] wk; weight: 3.6 [3.0 to 6.9] kg; crown-to-heel length: 51.5 [48 to 61] cm). Data at admission and after discharge were compared by analysis of variance (ANOVA) with those in the healthy controls matched for crown-to-heel length. At admission all three variables gave lower average results than predicted means. Values for each index had attained a normal level 2 wk after admission; normal levels were maintained at 3 and 12 mo. The prevalence of recurrent wheezing (five of the 17 infants) was comparable with that reported in population studies. These findings suggest that in this population acute viral bronchiolitis did not lead to permanent changes in PF.

Acute Disease↗

Respiratory illness in families of preterm infants with chronic lung disease.

AIMS--To examine the relation, based on two types of questionnaires, between (1) chronic lung disease of the newborn (CLDN) and lower respiratory illness (LRI) in siblings, and between (2) CLDN and asthma, chronic obstruction pulmonary disease (COPD), or allergy in parents and grandparents. METHODS--Data from 209 children born before 32 weeks of gestation were randomly taken from the records of three neonatal units. Taking into account age and gender, the excess of LRI was calculated for each family compared with the average of all families. Subsequently whether CLDN was associated with an excess of LRI in the family was tested. RESULTS--Thirty one (14.8%) children were diagnosed as having CLDN. The family probability index for LRI did not differ between children with or without CLDN. The prevalence of COPD, asthma, and allergy in parents of children with CLDN was similar to that of children without CLDN. The prevalence of LRI was 18.1% in study children, 29.6% in children with CLDN, and 16.9% in children without CLDN (P < 0.01). These prevalences were higher compared with that of a group of term siblings (9.3%) (P = 0.05). CONCLUSIONS--These findings suggest that CLDN in preterm children is not related to a genetic or familial predisposition towards asthma, COPD, or allergy.

Asthma↗