Tuberculosis in a nine-year-old girl treated with infliximab for systemic juvenile idiopathic arthritis.
Explore the source record for details and available documents.
Antibodies, Monoclonal↗
Biomedical subjects
P G Nikkels
Publications and source records attributed to P G Nikkels.
[Aneurysm of the V. magna cerebri (vein of Galen), a cause of congestive heart failure in five neonates].
In five neonates (4 girls and 1 boy) with aneurysm of the V. magna cerebri, clinical signs of congestive heart failure were encountered. In three of the neonates the symptoms were detected postnatally and in two prenatally. In one of the prenatally detected cases the aneurysm was treated by embolisation during the first week of life. Upon follow-up at six years of age, this patient's situation was stable but hydrocephalus had led to poor visuomotor development, mild motor retardation and mental retardation. In the other infants, medicinal treatment of the congestive heart failure was discontinued in view of ischaemic brain damage, and these patients subsequently died. Congestive heart failure often develops in neonates with an aneurysm of the V. magna cerebri due to low cerebrovascular resistance. A continuous murmur over the skull is pathognomonic for this condition.
Cerebral Veins↗
Schneckenbecken dysplasia, radiology, and histology.
To our knowledge this is the first report of Schneckenbecken dysplasia with the development of hydrops early in the second trimester. The radiological findings showed the typical hypoplastic iliac bones with medial extension and very flattened, on lateral view, oval-shaped vertebral bodies and short long bones. The histology showed hypercellular and hypervascular cartilage with chondrocytes with centrally located nucleus. The absence of the lacunar space as described before was also observed in some chondrocytes in our case. This male fetus was the product of consanguineous parents of Mediterranean origin compatible with autosomal recessive inheritance.
Edema↗
Morphometry of human ovaries in normal and growth-restricted fetuses.
According to the fetal origins hypothesis, normal growth and development of abdominal organs is disturbed by intra-uterine growth restriction, leading to diseases later in life. The aims of this study were to investigate the effect of growth restriction on the ovaries of human fetuses and to investigate the dynamics of follicular growth in normal fetuses. We selected 21 normal female fetuses (controls) and seven severely intra-uterine growth-restricted female fetuses (IUGR cases) from all autopsy records over a 10-year period. Ovarian volume was calculated and from histological sections the volume-percentage of follicles in the ovarian cortex, the maximum diameters of individual follicles and the distribution of the follicle classes and oogonia were determined. The volume of the ovaries increased significantly from 0.10 to 0.36 cm3 in the second half of gestation. The mean volume-percentage of ovarian follicles and the mean follicle diameter significantly increased with 0.48% and 0.52 microm per week, respectively. Class B/C (intermediary) follicles (72%) were predominantly present. Class B (primordial) follicles decreased from over 20% to less than 10% and class C (primary) increased from 6 to 19%. Class A (oogonia) were frequently present before 30 gestational weeks, but were rare after that age. For all studied parameters we did not find differences between IUGR cases and controls. Intra-uterine growth restriction does not seem to disturb ovarian development in the human fetus. In the second half of gestation the follicle pool increases by the growth of individual follicles, the transition of follicle to larger classes, and probably by increasing follicle numbers. As most follicles at term were class B/C and C, follicles up to class C are probably part of the resting stock.
Female↗
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy.
OBJECTIVE: To monitor behavioral development in a fetus affected by the Pena-Shokeir phenotype due to fetal akinesia deformation sequence of myogenic origin. METHODS: Fetal behavioral development was studied sonographically in a fetus suspected of having fetal akinesia deformation sequence, between 15 and 35 weeks of gestation at 1-4-week intervals. RESULTS: Fetal body movements were quantitatively and qualitatively abnormal from 28 weeks onwards. Behavioral deterioration coincided with the observation of structural anomalies such as club feet. Fetal heart rate and its variation remained within normal limits and showed normal ultradian cyclicity, but the temporal linkage between body movements and heart rate pattern worsened with advancing gestation. Breathing movements, although present until the end of pregnancy, became increasingly shallow. CONCLUSION: Our results provide sound evidence that the trajectory of behavioral development with fetal akinesia deformation sequence, which has been hypothesized to occur in man exclusively on the basis of retrospective analyses and animal experiments, does indeed take place.
Abnormalities, Multiple↗
Neonatal diffusion-weighted MR imaging: relation with histopathology or follow-up MR examination.
PURPOSE: Diffusion-weighted imaging (DWI) has become a standard method for early evaluation of stroke in adults, but its value in neonates is less well established. In this study neonatal DWI was compared with histopathology in those patients who died, or with sequelae seen on a second MR in the surviving neonates. PATIENTS AND METHODS: DWI was performed in 2 groups. Group 1: seven neonates who died and had a post-mortem ex-amination (perinatal asphyxia [n=5], symptomatic hypoglycemia [n= 11, periventricular leukomalacia [n= 1]). Group 2: six surviving neonates with a second MR examination at three months of age (perinatal asphyxia [n= 21, neonatal stroke[n= 3], meningo-encephalitis [n= 1]). RESULTS: In group l neonatal DWI showed more extensive involvement than conventional MRI in 6 out of 7 patients. These changes were less extensive,however, than seen post-mortem by histopathology in 5 out of 7. In group 2 neonatal DWI showed more extensive involvement than conventional MRI in 2 out of 6; 4 out of 6, however, showed less extensive cystic evolution on follow-up MRI at 3 months than expected from neonatal imaging. CONCLUSION: There was a good relation between hyperintense areas on DWI and areas of cytotoxic edema and neuronal damage on histopathology. In the survivors a second MRI showed cystic evolution in all, but the volume of the cysts was smaller than expected on the basis of the neonatal DWI findings.
Asphyxia Neonatorum↗
A gastric diverticulum containing pancreatic tissue and presenting as congenital double pylorus: case report and review of the literature.
Explore the source record for details and available documents.
Child, Preschool↗
Eosinophilic cystitis.
We describe four cases of eosinophilic cystitis in whom no specific cause could be found, and review the literature. Complaints at presentation included urgency, frequency, abdominal pain, and haematuria. In three patients the symptoms and ultrasound pictures suggested a bladder tumour. One patient was treated with anticholinergics and corticosteroids without relief of symptoms; a localised eosinophilic tumour was excised in one patient who remained symptom free; and two patients were managed conservatively with spontaneous resolution of bladder pathology and symptoms. One case was identified by random bladder biopsy in 150 consecutive patients with unexplained irritable micturition complaints. Eosinophilic cystitis is rare in children. After biopsy, we consider a wait and see policy is justified as symptoms tend to disappear spontaneously. Routine bladder biopsies in children with unexplained bladder symptoms is not justifiable.
Adolescent↗
Vascular endothelial growth factor in bacterial meningitis: detection in cerebrospinal fluid and localization in postmortem brain.
Vascular endothelial growth factor (VEGF) is a potent vascular permeability factor and a mediator of brain edema. To assess the role of VEGF during bacterial meningitis, VEGF was measured in cerebrospinal fluid (CSF) and blood of 37 patients with bacterial meningitis and 51 control patients, including 16 patients with viral meningitis. Circulating VEGF levels were similar in bacterial meningitis patients and control patients. VEGF(CSF) was detected in 11 (30%) of 37 of bacterial meningitis patients (range, <25-633 pg/mL) but in none of the control patients. The median VEGF index was 6.2 (range, 0.6-42), indicating intrathecal production. Median CSF cell counts, protein levels, and CSF: serum albumin ratios were higher for patients with detectable VEGF(CSF), although the difference was not statistically significant. VEGF immunoreactivity in autopsy brain specimens was found in the inflammatory infiltrate of patients with bacterial meningitis. These results indicate that inflammatory cells secrete VEGF during bacterial meningitis and that VEGF may contribute to blood-brain barrier disruption.
Adolescent↗
Effects of hydrosyapatite coating on Ti-6A1-4V implant-site infection in a rabbit tibial model.
To investigate the effect of implant type after direct contamination, a hydroxyapatite-coated or noncoated Ti-6A1-4V implant was inserted into both tibiae of 32 New Zealand White rabbits. Prior to implantation, the left tibia was contaminated with increasing concentrations of Staphylococcus aureus (10(2)-10(5) colony-forming units), ranging from very low (10(2)) to relatively high (10(5)). Four weeks after implantation, half of the tibial bone adjacent to the implant was harvested for bacteriological examination. Bacterial counts were quantified by plating serial dilutions. For the histological evaluation, sections of the implant with the remaining tibia were examined by semiquantitative scoring of infection parameters. The bacteriological data showed the inoculum dose and implant type to have a significant effect on the culture outcome: more bacteria were retrieved from the hydroxyapatite-coated implants than from the noncoated titanium implants. Histological evaluation showed an increased score for the infected left tibiae compared with their contralateral control. In addition, with increasing inoculum dosage, the difference between the two types of implant increased. We demonstrated that infections can occur with biocompatible, noncemented implants and that they are related to the dose of the original inoculum. Bacteria were more likely to grow onto or next to the hydroxyapatite implants than on titanium implants and resulted in a more severe histopathological characterization of infection.
Aluminum↗
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.
Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormalities. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy.
Adolescent↗
Classification of discordant fetal growth may contribute to risk stratification in monochorionic twin pregnancies.
OBJECTIVES: To determine whether classification of discordant growth between fetal twins allows risk stratification in monochorionic twin pregnancies. METHODS: In 12 twin-to-twin transfusion syndrome (TTTS) pregnancies and 12 cases that were suspected of developing the syndrome, fetal growth was determined by serial standard sonography. Fetal growth was expressed as the difference-average-ratio (DAR), defined as the difference in estimated fetal weight between both twins divided by their average weight. In each case, we determined the maximum value of DAR and the rate of change of DAR using a least squares linear fit of the estimated fetal weights. RESULTS: For the TTTS cases the maximum value of DAR was 0.44 +/- 0.21 versus 0.52 +/- 0.13 for the suspected TTTS cases (P = 0.25). The rate of change of DAR was 0.052 +/- 0.034 per week for the TTTS versus 0.0055 +/- 0.0092 for the suspected TTTS cases (P = 0.0004). After laser therapy, DAR decreased in four successful cases, with a rate of change of -0.0146 +/- 0.0093 per week, but increased further in one unsuccessful case, due to patent anastomoses. In the seven TTTS cases treated with amnioreduction, DAR did not decrease; in one of two suspected TTTS cases the DAR decreased slightly. In the nine amnioreduction cases, the average rate of change of DAR was 0.067 +/- 0.083 per week. This was significantly different from the four successful laser cases (P = 0.01). CONCLUSIONS: The rate of change of DAR, but not DAR itself, has prognostic value for the development of suspected TTTS pregnancies, for the onset and severity of TTTS and for the efficacy of therapy. This parameter is derived from routine sonography examination and may contribute to risk stratification in monochorionic twin pregnancies.
Female↗
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
UNLABELLED: A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour originating from the pancreas, with local metastases to the lymph nodes. The histologal diagnosis was a malignant islet cell tumour. Retrospectively measured pancreatic hormone levels, however, were normal. A connection between the malignancy and TSC was demonstrated by loss of heterozygosity of the TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromosome 16. CONCLUSION: Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.
Carcinoma, Islet Cell↗
Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.
An infant with neonatal Marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of Valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.
DNA Mutational Analysis↗
Lamina propria of the mucosa of benign lesions of the vocal folds.
OBJECTIVE/HYPOTHESIS: To demonstrate a correlation between the duration and specific pattern of trauma of benign lesions of the vocal folds and their histopathologic appearance. Benign lesions of the vocal folds have various macroscopic appearances. Investigations demonstrate characteristic histopathologic features for three clinically well-defined lesions: 1) vocal fold polyps, 2) Reinke edema, and 3) vocal fold nodules. It is expected that additional histological stainings can contribute to additional insight into the pathophysiology of these lesions. STUDY DESIGN: Retrospective. METHODS: Histological stainings were used to study the constitution of the lamina propria of the mucosa: Verhoeff-van Gieson, Masson trichrome, alcian blue and alcian blue after pretreatment with hyaluronidase. RESULTS: Estimation of the age of a lesion was not possible. Specific observations: 1) accumulation of hyaluronic acid around vessels occurred uniquely in polyps and 2) transverse orientation of elastic fibers was more often seen in vocal fold nodules. Combinations of histopathologic findings were specific to the lesion. CONCLUSIONS: The additional stainings support our previous observations, but had no additional discriminating value in making a histopathologic diagnosis.
Basement Membrane↗
Fetal growth retardation as a cause of impaired ovarian development.
Low birthweight has been associated with diseases and disorders later in life. It has been suggested that this is caused by the impaired development of abdominal organs, especially in cases of growth retardation. Besides general malnutrition of the fetus, preferential bloodflow to the heart and brain may further deprive organs, such as liver, pancreas and kidney, of nutrients. As a result these organs may not develop properly. Anatomically, the ovary is situated close to the kidney and it is very likely that, similar to the kidney, ovarian development can be negatively affected by intra-uterine growth retardation. Placental insufficiency, which is an important cause of severe intra-uterine growth retardation, was used as a model to investigate this hypothesis. In the present study, the volume percentages of primordial follicles in the ovaries of four severely growth-retarded fetuses of different gestational ages are compared to those of four age-matched controls. It is found that these volume percentage in growth-retarded fetuses were significantly lower than those observed in the age-matched controls. It can be concluded that ovarian development is impaired in intra-uterine growth-retarded fetuses. These findings further suggest that, as a result of the premature loss of follicles, females with low birthweights may encounter fertility problems later in life.
Birth Weight↗
Congenital lymphoedema of the genitalia.
UNLABELLED: Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that persisted after the age of 1 year. Circumcision and excision of the subcutaneous tissues of the phallic skin were successful in producing the appearance of a normal circumcised penis. The second case presented with oedema of both phallic and scrotal skin. At age 1 year only a pastous thickening of the prepuce remained, scrotal and phallic skin normalised spontaneously. Routine circumcision was successful with a 5-year follow up. The third case presented with persistent oedema of both the scrotum and the phallus. He suffered leakage of lymph requiring incontinence pads, with complicating skin infections recurring every 4-6 weeks at age 8 years. After complete peeling of the scrotal and phallic skin from subcutaneous tissue some leakage persisted, infections subsided. The cause of this disorder remains unknown, although hypoplasia of the lymphatic vessels is reported in most cases. In the literature, several congenital malformations have been associated with primary lymphoedema. These were not noted in our patients. Rarely, the lymphoedema regresses spontaneously. The treatment of persistent lymphoedema is surgical and consists of meticulous excision of all subcutaneous layers of the affected skin, combined with reconstruction of the penis and/or scrotum. CONCLUSION: Primary lymphoedema of the male external genitalia is an extremely rare malformation of the lymphatic vessels of unknown origin. If persistent, surgical treatment is necessary.
Genital Diseases, Male↗
Prediction of lesion size through monitoring the 0 degree C isothermic period following transcatheter cryoablation.
A prototype steerable 8.5 F bipolar catheter fitted with a feedback thermocouple was tested in 7 anaesthetized pigs (30 kg) guided by the electrocardiogram in order to modify the AV nodal and His-Purkinje system conductive properties. Thermal energy was delivered by a pressurized N2O tank (> 650 psi) via a cardiac cryo unit (Spembly, Hampshire, UK) into the catheter wherein gas expands resulting in a tip temperature as low as -70 +/- 2 degrees C within 10 seconds. Cryoablation under fluoroscopic and electrocardiographic guidance was applied at distinct sites in both ventricles for 60 or 120 seconds. After a follow-up period of 6 weeks, the ablation lesions found were well demarcated with small margins of hypertrophy of myocardial cells. With respect to lesion volume variability (8-207 mm3) and geometry, a relationship between the 0 degree C isothermic period and cryolesion volume was found. Results of an in vitro model corroborated this relationship. Therefore, an isothermic period probably can predict the lesion size and its geometry in terms of lesion depth. This potential therapeutic mode of transcatheter cryoablation deserves further investigation.
Animals↗