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Biomedical subjects

D Schmidt

Publications and source records attributed to D Schmidt.

At least 37 records · Page 2Linked to original sources

Determinants of response to a parent questionnaire about development and behaviour in 3 year olds: European multicentre study of congenital toxoplasmosis.

BACKGROUND: We aimed to determine how response to a parent-completed postal questionnaire measuring development, behaviour, impairment, and parental concerns and anxiety, varies in different European centres. METHODS: Prospective cohort study of 3 year old children, with and without congenital toxoplasmosis, who were identified by prenatal or neonatal screening for toxoplasmosis in 11 centres in 7 countries. Parents were mailed a questionnaire that comprised all or part of existing validated tools. We determined the effect of characteristics of the centre and child on response, age at questionnaire completion, and response to child drawing tasks. RESULTS: The questionnaire took 21 minutes to complete on average. 67% (714/1058) of parents responded. Few parents (60/1058) refused to participate. The strongest determinants of response were the score for organisational attributes of the study centre (such as direct involvement in follow up and access to an address register), and infection with congenital toxoplasmosis. Age at completion was associated with study centre, presence of neurological abnormalities in early infancy, and duration of prenatal treatment. Completion rates for individual questions exceeded 92% except for child completed drawings of a man (70%), which were completed more by girls, older children, and in certain centres. CONCLUSION: Differences in response across European centres were predominantly related to the organisation of follow up and access to correct addresses. The questionnaire was acceptable in all six countries and offers a low cost tool for assessing development, behaviour, and parental concerns and anxiety, in multinational studies.

Child Behavior↗

[Epilepsy and sleep disorders].

Sleep disorders often occur in patients with epilepsy. Every neurologist is familiar with the postictal drowsiness after tonicoclonic convulsions and likewise with the provocation of an attack after sleep deprivation that is often combined with alcohol consumption. It is more difficult to differentiate between motor disturbances and epileptic episodes during sleep. For example, nocturnal paroxysmal dystonia, which are frequently an expression of frontal lobe epilepsy, are long not recognized as non-epileptic, sleep-associated attacks. In addition, nocturnal episodes in context of a REM sleep behavioral disturbance can occasionally be differentiated from frontal lobe epileptic seizures only with great difficulty. A clear differential diagnostics between epileptic and non-epileptic attacks during sleep is, however, a requirement for a selective treatment.

Anticonvulsants↗

Assessment of the cranial involvement pattern of giant cell arteritis with 3T magnetic resonance imaging.

OBJECTIVE: To noninvasively determine the involvement pattern of the cranial arteries in giant cell arteritis (GCA), with high-resolution magnetic resonance imaging (MRI). METHODS: The superficial cranial arteries of 21 patients with suspected GCA were examined using a 3T high-field MRI scanner. Postcontrast T1-weighted spin-echo images were acquired with submillimeter spatial resolution, to assess mural thickness and lumen diameter of the major cranial arteries on both sides of the head. In all cases, MRI results were compared with findings of clinical examination and laboratory tests. In addition, temporal artery biopsy specimens from 10 patients were examined by histology. RESULTS: MRI sharply revealed all of the major superficial cranial arteries, allowing for an evaluation of their lumen and vessel wall. Nine of the 21 patients were diagnosed as having GCA according to the criteria of the American College of Rheumatology. In all of these patients with clinically diagnosed GCA, multiple cranial arteries showed signs of inflammation on MRI. In 1 patient, the occipital arteries were inflamed, while the temporal arteries were spared. CONCLUSION: Postcontrast high-resolution MRI visualizes the major cranial arteries on both sides of the head within a single examination. The cranial involvement pattern in GCA can be assessed precisely and noninvasively. In the majority of GCA patients, several cranial arteries were affected simultaneously, with a predominance of involvement of the frontal branch of the superficial temporal artery. Inflammation of the occipital arteries, with sparing of the temporal arteries, was also encountered.

Aged↗

[Patients with epilepsy and anxiety disorders. Diagnosis and treatment].

Up to 50-60% of patients with epilepsy may develop psychiatric complications, in particular depression, anxiety, and psychotic disorders. Although this comorbidity has received a great deal of attention in recent years, the anxiety spectrum of psychiatric disturbances in epilepsy patients has not been extensively studied, although this comorbidity has a significant effect on the medical management and quality of life. The etiology is multifactorial, including neurobiological and shared pathophysiological mechanisms as well as psychosocial and iatrogenic factors (e.g., influence of antiepileptic drugs, epilepsy surgery). Despite the high prevalence of comorbid anxiety in epilepsy, very little is known about optimal treatment strategies. This article reviews the complex interrelationships between anxiety disorders and epilepsy from a clinical point of view. The evaluation of anxiety relative to ictal, peri-ictal, and postictal states is described, and medical treatment options for anxiety disorders in patients with epilepsy are discussed, illustrating that their treatment extends far beyond seizure control.

Anticonvulsants↗

[Recommendations for the handling and oncologic pathology report of lymph node specimens submitted for evaluation of metastatic disease in gynecologic malignancies].

The nodal status is one of the strongest prognostic factors in gynecologic malignancies. Metastatic involvement of regional and distant lymph nodes represents the selection basis for adjuvant therapy in a large number of solid neoplasms. The number of resected lymph nodes is one of the most important parameters in the quality control of the surgical procedure, in particular with respect to radicality. The present paper provides recommendations for gross dissection, laboratory procedures and reporting for lymph node biopsies, lymph node dissections and sentinel lymph node biopsies (SLN) for cancers of the vulva, vagina, uterine cervix, endometrium, Fallopian tubes and the ovaries, submitted for the evaluation of metastatic disease. The pathologic oncology report should include information about the number and size of resected lymph nodes, the number of involved lymph nodes with the maximum size of metastases and the presence of paranodal infiltration. In addition, the detection of isolated tumor cells should be reported, particularly with respect to the detection method (immunostains or molecular methods). In cases of metastatic disease and carcinoma of unknown primary (CUP-syndrome), information should be given regarding the primary tumor.

Female↗

[Histopathology of squamous cell carcinoma and adenocarcinoma of the uterine cervix].

The introduction of a screening programme for carcinoma of the cervix uteri has lead to a reduction in the number of invasive carcinomas and to a relative increase in the frequency of preinvasive cervical lesions. The most frequent type of invasive cancer of the cervix is squamous cell carcinoma. Adenocarcinomas are much more infrequent. Special subtypes of squamous cell carcinomas are the papillary (squamotransitional) subtype, the verrrucous subtype and the lymphoepithelioma-like subtype. Among the various forms of adenocarcinoma, the mucinous subtype is the most frequent, either as endocervical or interstinal subtype. Much more rare are the serous and clear cell carcinomas. Great concern in daily diagnosis causes the adenoma malignum (minimal deviation adenocarcinoma), since this type of adenocarcinoma demonstrates only minor cytological atypia and greatly resembles the different types of endocervical glandular hyperplasia.A report on a cervical carcinoma should always include the typing and grading of the tumor. Immunohistochemical stains are often useful to distinguish the various types of primary cervical cancer and to distinguish these from metastatic lesions.

Adenocarcinoma↗

[Neuroendocrine carcinomas of the cervix].

Neuroendocrine carcinomas of the cervix are rare. They cover a wide age range occurring in young adult women and very old women. Two types are distinguished: small cell carcinoma (oat cell) and large cell neuroendocrine carcinoma. They either occur in pure form or in combination with adenocarcinoma or squamous cell carcinoma. By immunohistochemistry, the expression of at least one neuroendocrine marker (chromogranin, synaptophysin, NSE) is a constant finding. PRb protein can not be detected, whereas the expression of p53 varies. Typically, there is an association with a high risk HPV infection. HPV 18 is found more often than HPV 16. The prognosis is still poor with early metastases to regional lymph nodes and distant sites such as lung, liver, bone, and brain.

Adenocarcinoma↗

Detection of the CCR5-Delta32 HIV resistance gene in Bronze Age skeletons.

A mutant allele of the chemokine receptor CCR5 gene (CCR5-Delta32), which confers resistance to HIV-1 infection, is believed to have originated from a single mutation event in historic times, and rapidly expanded in Caucasian populations, owing to an unknown selective advantage. Among other candidates, the plague bacillus Yersinia pestis was implicated as a potential source of strong selective pressure on European populations during medieval times. Here, we report amplifications of the CCR5-Delta32 DNA sequence from up to 2900-year-old skeletal remains from different burial sites in central Germany and southern Italy. Furthermore, the allele frequency of CCR5-Delta32 in victims of the 14th century plague pandemic in Lubeck/northern Germany was not different from a historic control group. Our findings indicate that this mutation was prevalent already among prehistoric Europeans. The results also argue against the possibility of plague representing a major selective force that caused rapid increase in CCR5-Delta32 gene frequencies within these populations.

Gene Frequency↗

[Retinal angiomatosis].

BACKGROUND: Retinal capillary hemangioblastomas occur sporadically or as one of the manifestations of VHL (von Hippel-Lindau syndrome). In the assessment of retinal hemangioblastomas it is necessary to know about VHL, an autosomal dominant disease, a multisystem familial tumour syndrome. METHODS: An overview of the diagnosis and therapy of VHL is presented. RESULTS: Minimal criteria of the syndrome are tumours in one index patient and one of the typical lesions in another first-degree relative. Retinal hemangioblastomas were already found in children. Only 5 % of patients with VHL present retinal capillary hemangioma before the age of 10 years, and most patients present between the ages of 10 and 40 years. Data suggest that retinal capillary hemangioma is usually manifested by the age of 30 years. The VHL gene functions as a tumour suppressor gene and is mapped to the short arm of chromosome 3p25. The mapping of a locus for VHL has offered the prospect of presymptomatic diagnosis of the disease using DNA markers. Small retinal tumours are treated by photocoagulation, big hemangioblastomas by cryotherapy. Modern options in treatment of retinal tumours are proton therapy, plaque radiotherapy, pars-plana vitrectomy, photodynamic therapy, transpupillary thermotherapy and systemic treatment with the vascular endothelial growth factor (VEGF) receptor inhibitor, in addition. CONCLUSIONS: The interdisciplinary Freiburg VHL study which has been in existence for more than 20 years, has shown that an extensive family screening for early detection of the disease is necessary. The assessment of the diagnosis in a VHL carrier requires close follow-up for multiple and recurrent tumours.

Genetic Testing↗

[Radiofrequency ablation of renal cell carcinomas using MR imaging: initial results].

PURPOSE: First results of a study about the efficacy of magnetic resonance-(MR-)guided radiofrequency ablation of renal cell carcinomas (RCC) are presented. MATERIAL AND METHODS: Eight patients (63 to 82 years old) with RCC up to 3.9 cm in diameter were treated by percutaneous RF ablation under MR-guidance in an open MR scanner at 0.2T field strength. For positioning of the RF-electrode, fluoroscopic rapid gradient echo sequences (acquisition time about 2 sec) were used. The ablation was monitored by intermittent imaging with T1- and T2-weighted spin echo sequences. RESULTS: In each patient, the applicator was successfully positioned within the tumor using MR-guidance. Seven of eight patients were completely treated within one single session; one patient had to be retreated for tumor relapse at 13 months. The mean number of electrode repositionings under MR guidance for complete ablation was 2.0; ablation time ranged between 12 and 28 minutes. Maximum diameter (volume) of induced coagulation necrosis within one session was 3.9 cm (30.2 cm (3)) by using cluster electrodes. With single electrodes, maximum short axis diameter of coagulation without repositioning was 2.4 cm (11.6 cm (3)). All patients are now disease-free after a mean follow up of 13 months (5 to 21 months). No major complications occurred during or after the ablation procedure. CONCLUSION: MR-guided RF ablation in an open interventional 0.2T MR-unit is a safe and effective modality for the treatment of RCC. Fast MR-imaging is a convenient method for exact positioning of MR-compatible RF-electrodes. Near on-line MR-monitoring of ablation procedure with T2-weighted imaging allows for immediate assessment of the coagulation extent.

Aged↗

Uncontrolled epilepsy following discontinuation of antiepileptic drugs in seizure-free patients: a review of current clinical experience.

PURPOSE: We reviewed the impact of planned discontinuation of antiepileptic drugs (AEDs) in seizure-free patients on seizure recurrence and the seizure outcome of reinstituted treatment. METHODS: A literature review was performed yielding 14 clinical observations of seizure recurrence after discontinuation and its treatment outcome. RESULTS: Seizure recurrence rate after AED discontinuation ranged between 12 and 66% (mean 34%, 95%CI: 27-43) in the 13 reviewed studies (no data in one study). Reinstitution of AEDs after recurrence was efficacious between 64-91% (mean of 14 studies, 80%, 95%CI: 75-85%) at follow-up. Mean follow-up ranged from 1-9 years. Seizure outcome of resumed treatment was not different for series in children and adolescents (84%, mean of 4 studies, 95%CI: 75-93) or in adults only (80%, mean of 9 studies, 95%CI: 74-86). Although seizure control was regained within approximately one year in half of the cases becoming seizure free, it took some patients as many as 5-12 years. In addition, in 19% (mean of 14 studies, 95%CI: 15-24%), resuming medication did not control the epilepsy as before, and chronic drug-resistant epilepsy with many seizures over as many as five years was seen in up to 23% of patients with a recurrence. Factors associated with poor treatment outcome of treating recurrences were symptomatic etiology, partial epilepsy and cognitive deficits. CONCLUSIONS: These serious and substantial risks weigh against discontinuation of AEDs in seizure-free patients, except perhaps for selected patients with idiopathic epilepsy syndromes of childhood or patients with rare seizures.

Adolescent↗

The International Partnership for Health Informatics Education: lessons learned from six years of experience.

OBJECTIVES: To inform the medical and health informatics community on the rational, goals, and the achievements of the International Partnership for Health Informatics Education--IPHIE, (I phi E), that was established at six universities in 1999. METHODS: We elaborate on the overall goals of I phi E and describe the current state of affairs: the activities undertaken and faculty and student experience related to these activities. In addition we outline the lessons we have learned over these past six years and our plans for the future. RESULTS: I phi E members first started to collaborate by supporting and encouraging the exchange of talented students and faculty and by establishing joint master classes for honors students. Following the success of these activities, new initiatives were undertaken such as the organization of student workshops at medical informatics conferences and a joint course on strategic information management in hospitals in Europe. CONCLUSIONS: International partnerships such as I phi E take time to establish, and, if they are to be successful, maintaining leadership continuity is critically important. We are convinced that I phi E promotes professionalism of future medical informatics specialists. There will be a continuing growth of globalization in higher education. It will therefore become increasingly important to offer educational programs with international components.

Education↗

GSTP1 hypermethylation as a molecular marker in the diagnosis of prostatic cancer: is there a correlation with clinical stage, Gleason grade, PSA value or age?

OBJECTIVES: Epigenetic events such as promoter hypermethylation have been implicated in prostate carcinogenesis. We present a real-time, methylation specific protocol to detect hypermethylation in the promoter region of the GSTP1 gene in benign hyperplasia and adenocarcinoma of the prostate. METHODS: In our preliminary study, 31 prostate cancer and 5 benign prostatic hyperplasia (BPH) tissue samples were analyzed. Genomic DNA was isolated from formalin-fixed and paraffin-embedded specimens and subjected to sodium bisulfite modification, followed by real-time, methylation specific PCR. Patients with prostatic cancer were also subdivided according to their Gleason score, PSA, age and TNM Staging. Prostate cancer cell lines (LNCaP, DU145, PC3) and a BPH cell line (BPH-1) were also tested as controls. RESULTS: GSTP1 promotor hypermethylation was detected in 28 of the 31 prostate cancer cases (90.3%) and none of the five (0%) BPH cases. Statistical analysis did not reveal a significant correlation between GSTP1 hypermethylation and Gleason score, PSA, age or TNM staging. All prostate cancer cell lines were testes positive for GSTP1 promotor hypermethylation, whereas the BPH cell line (BPH-1) was tested negative. CONCLUSION: GSTP1 promotor hypermethylation occurs during carcinogenesis and is considered to be a major event of prostate carcinogenesis. Our data support this thesis and shows that GSTP1 hypermethylation reliably distinguishes between prostate cancer and BPH . Although it is not yet clear at what time during carcinogenesis hypermethylation of the GSTP1 promotor occurs it seems to provide valuable information for prostate cancer screening and diagnosis. Larger studies are underway to determine the potential role for GSTP1 hypermethylation in clinical settings.

Adenocarcinoma↗

AtTPK4, an Arabidopsis tandem-pore K+ channel, poised to control the pollen membrane voltage in a pH- and Ca2+-dependent manner.

The Arabidopsis tandem-pore K(+) (TPK) channels displaying four transmembrane domains and two pore regions share structural homologies with their animal counterparts of the KCNK family. In contrast to the Shaker-like Arabidopsis channels (six transmembrane domains/one pore region), the functional properties and the biological role of plant TPK channels have not been elucidated yet. Here, we show that AtTPK4 (KCO4) localizes to the plasma membrane and is predominantly expressed in pollen. AtTPK4 (KCO4) resembles the electrical properties of a voltage-independent K(+) channel after expression in Xenopus oocytes and yeast. Hyperpolarizing as well as depolarizing membrane voltages elicited instantaneous K(+) currents, which were blocked by extracellular calcium and cytoplasmic protons. Functional complementation assays using a K(+) transport-deficient yeast confirmed the biophysical and pharmacological properties of the AtTPK4 channel. The features of AtTPK4 point toward a role in potassium homeostasis and membrane voltage control of the growing pollen tube. Thus, AtTPK4 represents a member of plant tandem-pore-K(+) channels, resembling the characteristics of its animal counterparts as well as plant-specific features with respect to modulation of channel activity by acidosis and calcium.

Animals↗

Medical informatics at Heidelberg/Heilbronn: status-evaluation-new challenges in a specialised curriculum for medical informatics after thirty years of evolution.

After reporting on characteristics, structure and contents of the specialised informatics-based curriculum for medical informatics (MI) at the University of Heidelberg/University of Applied Sciences Heilbronn, the paper describes the development during the last 5 years, and in particular a complementary health care oriented postgraduate program in 'Health Information Management' (IM). Furthermore, it outlines results of a study among the MI graduates, which aims to assess their job situation and to evaluate the curriculum from their viewpoint and so establishes a summary of 30 years of experience with the program. Finally, the paper discusses new challenges of the program, considering the results of the study, perspectives of health care provision in the next decade, content changes to be focused on and the growing competition in the field of programs for medical informatics.

Computer-Assisted Instruction↗

International Master Classes in health informatics.

Master Classes arose within the performing arts and are now being offered in system sciences. The IPhiE group of faculty from six universities in Europe and the United States has offered Master Classes in health informatics to provide an integrative forum for honors students. Featured are international views of health systems, varied opportunities for student interaction and promotion of informatics professionalism. Five years of experience indicate the success of this concept and suggest changes that will be considered for the future.

Curriculum↗