Characteristics of IDH-mutant gliomas with non-canonical IDH mutation.

BACKGROUND: Approximately 10% of IDH-mutant gliomas harbour non-canonical IDH mutations (non-p.R132H IDH1 and IDH2 mutations). OBJECTIVE: The aim of this study was to analyse the characteristics of non-canonical IDH-mutant gliomas. MATERIALS AND METHODS: We retrospectively analysed the characteristics of 166 patients with non-canonical IDH mutant gliomas and compared them to those of 155 consecutive patients with IDH1 p.R132H mutant gliomas. RESULTS: The median age at diagnosis was 38 years in patients with non-canonical IDH mutant gliomas and 43 years in glioma patients with IDH1 p.R132H-mutant tumours. Family history of cancer was more frequent among glioma patients harbouring non-canonical IDH mutations than in patients with IDH1 p.R132H mutations (22.2% vs 5.1%; P < 0.05). Tumours were predominantly localised in the frontal lobe regardless of the type of IDH mutation. Compared to IDH1 p.R132H-mutant gliomas, tumours with non-canonical IDH mutations were more frequently found in the infratentorial region (5.5% vs 0%; P < 0.05) and were often multicentric (4.8% vs 0.9%; P < 0.05). Compared to IDH1 P.R132H-mutant gliomas, tumours with non-canonical IDH1 mutations were more frequently astrocytomas (65.6% vs 43%, P < 0.05), while those with IDH2 mutations were more frequently oligodendrogliomas (85% vs 48.3%; P < 0.05). The median overall survival was similar in patients with IDH1 p.R132H-mutant gliomas and patients with non-canonical IDH-mutant gliomas. CONCLUSION: Gliomas with non-canonical IDH mutations have distinct radiological and histological characteristics. The presence of such tumours seems to be associated with genetic predisposition to cancer development.

Research participation among state and local public health emergency preparedness and response programs.

OBJECTIVES: The objective of our study was to assess whether state and local health staff participated in public health emergency preparedness research activities and what partner organizations they collaborated with on research. STUDY DESIGN: This is a cross-sectional study. METHODS: Data were derived from a 2014 web-based survey of state, territorial, and local health departments conducted by the Centers for Disease Control and Prevention and NORC at the University of Chicago as part of a larger project to assess the public health emergency preparedness and response research priorities of state and local health departments. RESULTS: Overall, 30% of survey respondents indicated that health department staff were involved in public health preparedness and response research-related activities. Thirty-four percent indicated that they were extremely or moderately familiar with emergency preparedness research and literature. Approximately 67% of respondents reported interest in receiving additional information and/or training related to the preparedness research and literature. The most frequently reported partners for collaboration in preparedness research-related activities were schools of public health (34%). CONCLUSIONS: Our findings suggest that there is health department interest in learning more about preparedness and response science and that additional efforts are needed to increase health department participation in public health emergency preparedness and response research-related activities.

A French retrospective study on clinical outcome in 102 choroid plexus tumors in children.

The aim of this study was to review and describe therapeutic approaches in children with choroid plexus tumor (CPT) based on a nationwide series. The World Health Organization classification subdivides these rare tumors into three histological subtypes corresponding to three grades of malignancy: low grade (grade I) choroid plexus papilloma (CPP), intermediate grade (grade II) atypical choroid plexus papilloma (aCPP) and high grade (grade III) choroid plexus carcinoma (CPC). This retrospective study included 102 French children younger than 18 years, treated from 2000 to 2012: 54 CPP, 26 aCPP and 22 CPC. The 5 year overall survival was 100% in CPP, 96.2% in aCPP and 64.7% in CPC. In patients with localized disease, complete surgical resection was achieved in 48/52 CPP, 20/26 aCPP and 7/14 CPC. In this group, patients with complete surgical resection had better event free survival than patients with partial resection (88.9 vs. 41.6%). 28 patients (1 CPP, 6 aCPP and 22 CPC) had adjuvant chemotherapy. 2 aCPP and 9 CPC had radiotherapy. We underlined the need for a central histological review to accurately analyze clinical data; we reported a much higher overall survival for CPC than in most previous CPT series probably including atypical teratoid rhabdoid tumors. In our series, the 5 years overall survival in CPC (64.7%) was higher than event free survival (25.2%) and could be interpreted as a clue for the efficiency of adjuvant/salvage therapy even if the heterogeneity of applied treatments in this retrospective series does not allow for meaningful statistical comparisons.

iPad-based patient briefing for radiological examinations-a clinical trial.

To analyze if an iPad-based patient briefing can serve as a digital alternative to conventional documentations prior to radiological examinations. One hundred one patients referred for routine MRI were randomized into two groups, who underwent iPad-based and classic written briefing in opposite order. For each briefing completion time, completeness and correctness were noted. Patient's knowledge about the content of either briefing modality was subsequently tested. The influence of patient-related factors on the performance of the electronic briefing (EB) was analyzed. Finally, the patient's subjective impression of the EB was assessed. The mean durations were 4.4 ± 2.2 min for EB and 1.7 ± 1.3 min for the classic briefing (p < 0.01). All iPad briefings were returned entirely filled out, whereas 11 % of the classic forms were returned with missing data. No significant differences in memorization of the briefing's information were objectified. There was a positive correlation between the duration of EB and age (r = 0.53; p < 0.01), whereas a negative correlation was found between computer skills and patient's age (r = -0.55; p < 0.01) or duration of EB (r = -0.62; p < 0.01). More than half of the study patients would prefer EB in the future; another 29 % had no preference at all. Patient briefing on iPads transfers the information for the patients equally well compared to the classic written approach. Although iPad briefing took patients longer to perform, the majority would prefer it to written consent briefings in the future. Nevertheless, measures have to be undertaken to improve the overall acceptance and performance.

MRI-guided core biopsy of the prostate in the supine position--introduction of a simplified technique using large-bore magnet systems.

OBJECTIVES: To introduce a simplified technique for MRI-guided core biopsies (MRGB) of the prostate in the supine position using large-bore magnet systems. METHODS: Fifty men with a history of negative transrectal ultrasound-guided biopsies underwent MRGB in either a 1.5-T (13/50) or 3.0-T (37/50) wide-bore MRI unit. MRGBs were conducted with the patients in a supine position using a dedicated MR-compatible biopsy device. RESULTS: We developed a dedicated positioning device for the supine position. Using this device, the biopsies were performed successfully in all patients. Apart from minor rectal bleeding, only one patient developed a major side effect (urosepsis). Histology revealed prostate cancer in 25/50 (50 %) patients. CONCLUSIONS: The new technique appears feasible. Its major advantage is the more comfortable and patient-friendly supine position during the biopsy without the need to modify the MRI system's patient table. KEY POINTS: • A novel positioning device for MRI-guided prostate biopsies has been developed. • Biopsies can be performed in the patient-friendly supine position. • The positioning device can be utilised without modifying the MRI's patient table.

Bilateral tympanic myxoma: A CARE case report.

INTRODUCTION: Ear myxoma is a rare benign tumor sometimes located on the pinna and the external auditory meatus, associated with Carney Complex (CNC). However, tympanic membrane myxoma has never been described. We present here a case of bilateral tympanic membrane myxoma, following CARE guidelines. OBSERVATION: A 35-year-old woman presented to our department with right otalgia. Otoscopy showed non-specific bilateral tissular masses in the posterior quadrant of the tympanic membranes, with normal hearing thresholds. CT-scan showed a tissular mass without osteolysis. Right-side resection confirmed the lesion as being a myxoma, ruling out differential diagnoses. The patient was then screened for extra-otologic lesions typically associated with ear myxoma in CNC. Only perilabial lesions similar to lentigos suggested CNC. Cardiac, endocrine and thyroid assessment were normal. Genetic testing for a PKRAR1A gene mutation was negative. DISCUSSION: This is to our knowledge the first reported case of tympanic membrane myxoma. It is of particular interest, being bilateral and showing spontaneous involution of the left lesion over the years. Genetic screening was negative; nevertheless, thorough evaluation is essential due to the life-threatening nature of cardiac myxoma and the frequently associated malignant tumors. Potential new mutations associated with CNC should be considered in the future.

Magnetic resonance image-guided biopsies with a high detection rate of prostate cancer.

AIM: To explore the potential of transrectal magnetic resonance image- (MRI-) guided biopsies of the prostate in a patient cohort with prior negative ultrasound guided biopsies. PATIENTS AND METHODS: Ninety-six men with suspected prostate cancer underwent MRI-guided prostate biopsies under real-time imaging control in supine position. RESULTS: Adenocarcinoma of the prostate was detected in 39 of 96 patients. For individual core biopsies, MRI yielded a sensitivity of 93.0% and a specificity of 94.4%. When stratifying patients according to the free-to-total prostate-specific antigen (PSA) ratio, the prostate cancer discovery rate was significantly higher in the group with ratios less than 0.15 (57.1%). CONCLUSION: MRI-guided biopsy of the prostate is a diagnostic option for patients with suspected prostate cancer and a history of repeatedly negative transrectal ultrasound-guided biopsies. Combined with the free-to-total PSA ratio, it is a highly effective method for detecting prostate cancer.

[Medulloblastoma. Pathology]. / Médulloblastome. Anatomie pathologique.

Medulloblastomas, embryonal neuroepithelial tumors developed in the cerebellum or brain stem, are mainly observed in childhood. The treatment of WHO-Grade IV tumors depends on stratifications that are usually based on postoperative data, histopathological subtype, tumor extension and presence of MYC or NMYC amplifications. Recently, molecular biology studies, based on new technologies (i.e. sequencing, transcriptomic, methylomic) have introduced genetic subtypes integrated into the latest WHO-2016 neuropathological classification. According to this classification, the three genetic groups WNT, SHH, with or without mutated TP53 gene, and non-WNT/non-SHH, comprising subgroups 3 and 4, are recalled in this review. The contribution of immunohistochemistry to define these groups is specified. The four histopathological groups are detailed in comparison to the WHO-2007 classification and the molecular data: classic medulloblastoma, desmoplastic/nodular medulloblastoma, medulloblastoma with extensive nodularity, and large cell/anaplastic medulloblastoma. The groups defined on genetic and histopathological grounds are not strictly concordant. Depending on the age of the patients, their correlations are different, as well as their role in the management and prognosis of these tumors. Other embryonal tumors, for which new classifications are in progress and gliomas may be confused with a medulloblastoma and the elements of the differential diagnosis of these entities are discussed. This evolution in classification fully justifies ongoing structuring procedures such as histopathological review (RENOCLIP) and the organization of molecular biology platforms.

Eosinophilic cystitis mimicking bladder cancer-considerations on the management based upon a case report and a review of the literature.

The hypereosinophilic syndrome (HES) is a rare disorder characterized by hypereosinophilia and infiltration of various organs with eosinophils. Eosinophilic cystitis (EC), mimicking bladder cancer clinically but also in ultrasound and in radiographic imaging, is one potential manifestation of the HES occurring in adults as well as in children. This case report describes the course of disease in a 57-year-old male presenting with severe gait disorders and symptoms of a low compliance bladder caused by a large retropubic tumor. After extensive urine and serologic examination and histologic confirmation of EC the patient was subjected to medical treatment with cetirizine and prednisolone for 5 weeks. While gait disorders rapidly resolved, micturition normalized only 10 months after initiation of therapy. Based upon this course the authors recommend patience and reluctance concerning radical surgical intervention in EC. Key Points • Eosinophilic cystitis is a rare condition with app. 200 cases reported, so far. • Etiology of eosinophilic cystitis is obscure, but allergies and parasitic infections may trigger the disease. • Genetic alterations (e.g., BRAF mutations) may predispose for the disease • Corticosteroids and antihistamines are the backbone of therapy and may be complemented by antibiotics and non-steroidal anti-inflammatory drugs in case of concomitant (underlying) infections. • As recovery can occur even after a long time, radical surgery should be restricted to highly selected cases.

Multicenter, double-blind, randomized, intraindividual crossover comparison of gadobenate dimeglumine and gadopentetate dimeglumine for MR angiography of peripheral arteries.

PURPOSE: To prospectively compare the image quality and diagnostic performance achieved with doses of gadobenate dimeglumine and gadopentetate dimeglumine of 0.1 mmol per kilogram of body weight in patients undergoing contrast material-enhanced magnetic resonance (MR) angiography of the pelvis, thigh, and lower-leg (excluding foot) for suspected or known peripheral arterial occlusive disease. MATERIALS AND METHODS: Institutional review board approval was granted from each center and informed written consent was obtained from all patients. Between November 2006 and January 2008, 96 patients (62 men, 34 women; mean age, 63.7 years +/- 10.4 [standard deviation]; range, 39-86 years) underwent two identical examinations at 1.5 T by using three-dimensional spoiled gradient-echo sequences and randomized 0.1-mmol/kg doses of each agent. Images were evaluated on-site for technical adequacy and quality of vessel visualization and offsite by three independent blinded readers for anatomic delineation and detection/exclusion of pathologic features. Comparative diagnostic performance was determined in 31 patients who underwent digital subtraction angiography. Data were analyzed by using the Wilcoxon signed-rank, McNemar, and Wald tests. Interreader agreement was determined by using generalized kappa statistics. Differences in quantitative contrast enhancement were assessed and a safety evaluation was performed. RESULTS: Ninety-two patients received both agents. Significantly better performance (P < .0001; all evaluations) with gadobenate dimeglumine was noted on-site for technical adequacy and vessel visualization quality and offsite for anatomic delineation and detection/exclusion of pathologic features. Contrast enhancement (P < or = .0001) and detection of clinically relevant disease (P < or = .0028) were significantly improved with gadobenate dimeglumine. Interreader agreement for stenosis detection and grading was good to excellent (kappa = 0.749 and 0.805, respectively). Mild adverse events were reported for four (six events) and five (eight events) patients after gadobenate dimeglumine and gadopentetate dimeglumine, respectively. CONCLUSION: Higher-quality vessel visualization, greater contrast enhancement, fewer technical failures, and improved diagnostic performance are obtained with gadobenate dimeglumine, relative to gadopentetate dimeglumine, when compared intraindividually at 0.1-mmol/kg doses in patients undergoing contrast-enhanced MR angiography for suspected peripheral arterial occlusive disease.

Weekly high-dose 5-fluorouracil as a 24-h infusion and sodium folinic acid (AIO regimen) plus irinotecan in patients with locally advanced nonresectable and metastatic adenocarcinoma or squamous cell carcinoma of the oesophagus: a phase II trial.

In the majority of patients with oesophageal carcinoma, curative treatment proves to be impossible when diagnosis was established; therefore, most of the patients are candidates for palliative chemotherapy. The aim of this phase II study was to evaluate the efficacy and safety of 5-fluorouracil/folinic acid (AIO regimen) plus irinotecan in patients with locally advanced or metastatic carcinoma of the oesophagus. The methods used a prospective phase II trial, start: November 2002; patients: n=25; chemotherapy: irinotecan (80 mg/m2) as a 1-h infusion and 5-fluorouracil (2000 mg/m2) with sodium folinic acid (500 mg/m2) as a 24-h infusion on days 1, 8, 15, 22, 29 and 36, repeated on day 57. Last date of evaluation: 28 February 2007; n=24; adenocarcinoma: n=13, squamous cell carcinoma (SCC): n=11; UICC III/IV: 3/21; grading G1/G2/G3/G4: 0/8/12/4; median age: 58 years (range 44-75); men/women: 19/5; Eastern Cooperative Oncology Group index 0/1/2: 3/17/4; applications: 460. Higher-grade toxicity: grade 3 diarrhoea: n=2, grade 4 diarrhoea: n=1, grade 4 vomiting: n=1, grade 4 nausea: n=1, grade 3 fatigue: n=1, grade 3 hyponatraemia: n=2, grade 4 elevation of creatinine: n=1, thrombosis of the vena subclavia: n=1, ischaemic lesion of the brain stem: n=1. Three patients died after two chemotherapeutic applications because of high tumour burden. Evaluable for response: n=19. Partial response: n=8 (33%), stable disease: n=9 (38%), progressive disease: n=2 (8%), not evaluable: n=5 (21%). Time-to-progression: 6.6 months (range 1.6-24.6). Total median survival: 13.6 months (median survival of adenocarcinoma: 20.3 months, median survival of SCC: 10.0 months). Secondary resection (R0): n=3. In oesophageal carcinomas, the AIO regimen plus irinotecan is excellently manageable as an outpatient treatment and shows efficacy in adenocarcinomas and SCCs of the oesophagus.

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.

Germline mutations of the POLE gene are responsible for polymerase proofreading-associated polyposis syndrome (PPAP). These mutations were hypothesised to predispose to extra-gastrointestinal tumours (ovary, endometrium, brain), but this association has not been confirmed so far. We report a family with an autosomal dominant inheritance of PPAP due to a c.1089C>A; p.Asn363Lys mutation in the proofreading exonuclease domain of POLE. Ten patients presenting a history of colorectal tumours and three patients with polyposis are indexed in this family. Three carriers (including siblings and a distant cousin at 30, 45 and 52 respectively) and another member (at 37 not tested) presented glioblastoma. This is the second family reported to carry this mutation. Among the four glioblastomas in the family that we report, both show similar pathology: giant cell glioblastoma. These cases suggest that the c.1089C>A germline POLE mutation may confer an increased risk of brain cancer [incidence 17.4% (4/23) in mutation carriers combining the two families]. More observations are needed to support this hypothesis. It seems that not all mutations of POLE are equally associated with extra-gastrointestinal tumours. Although carriers of a mutation responsible for PPAP should benefit from screening for colorectal and uterine cancer, due to the rapid evolution of glioblastoma the value of neurological follow-up and brain imaging screening remains questionable. Nevertheless, considering the limitations of standard therapy for glioblastoma, mutation status could be useful for targeting therapy. The biological mechanism linking POLE mutation to glioblastoma remains to be determined.

Direct MR galactography: feasibility study.

PURPOSE: To compare T1- and T2-weighted direct magnetic resonance (MR) galactography, indirect MR galactography, and conventional galactography in women with pathologic nipple discharge. MATERIALS AND METHODS: The study was approved by the institutional review board. Written informed consent was obtained from all patients. Twenty-three women (age range, 30-85 years) with pathologic nipple discharge and pathologic conventional galactographic findings underwent physical examination, ultrasonography, and MR imaging before surgery. A T2-weighted sequence of the affected breast was performed before (indirect MR galactography), and T1- and T2-weighted sequences were performed after (direct MR galactography), gadopentetate dimeglumine was injected into the discharging duct. MR galactographic findings were analyzed and compared with conventional galactographic findings. Sequences used were T2-weighted three-dimensional constructive interference in steady state (CISS), T1-weighted volumetric interpolated breath-hold examination (VIBE), and T1-weighted fast low-angle shot (FLASH). RESULTS: The 23 patients had a total of 57 findings at conventional galactography. Indirect MR galactography with CISS showed pathologic findings in eight (42%) of 19 patients and showed 15 (33%) of 46 of all findings. Direct MR galactography with CISS showed pathologic findings in 23 (100%) of 23 patients and 47 (82%) of 57 of all findings, that with VIBE showed pathologic findings in 19 (83%) of 23 patients and 38 (67%) of 57 of all findings, and that with FLASH showed pathologic findings in 16 (100%) of 16 patients and 31 (80%) of 39 of all findings. There was a significant (P < .01) difference between indirect MR galactography and all direct MR galactography sequences in the detection of ductal disease. Eight (35%) of 23 women showed additional findings at direct MR galactography in comparison with standard MR imaging sequences. CONCLUSION: MR galactography has the potential to be used in the diagnostic work-up of pathologic nipple discharge. Direct MR galactography shows more disease than does indirect MR galactography. The highest detection rate for ductal disease compared with that at conventional galactography was found with the direct MR galactography CISS and FLASH sequences.

[The von Meyenburg complex]. / Der von Meyenburg Komplex.

The von Meyenburg complex (VMC) describes bile duct hamartomas and presents a rare, benign incidental finding in liver imaging. We report on a 61-year-old man, who was referred for a follow up study 14 years after remission of Hodgkin's disease. Computed tomography (CT) revealed multiple hypodense lesions throughout the liver, primary suggesting recurrent Hodgkin's disease. Previous CT-examinations, which were obtained at a later date, showed those Lesions in identical distribution and morphology over the years, leading to diagnosis of multiple bile duct hamartomas (VMC). Making imaging-based diagnosis of VMC including ultrasound, CT and magnetic resonance imaging is a challenging task for the radiologist. Based on literature research findings, the impact of different modalities in the diagnostic work-up of VMC is discussed.

[Hypoxic injury of all deep nuclei of the brain--a case report from computed tomography]. / Hypoxischer Schaden aller tiefen Kerngebiete des Gehirns--ein Fallbericht aus der Computertomographie.

Though being inferior to magnetic resonance imaging, computed tomography (CT) of the brain is the most frequently applied imaging modality in the diagnostic workup of acute cerebral Ischaemia. We report on a case of a comatose 53-year-old man who was brought to the emergency room after cardiopulmonary resuscitation. The CT of the brain showed a diffuse brain oedema with an explicit hypodense demarcation of all deep nuclei.

[Long-term inpatient treatment of extreme juvenile obesity: an 18-month catamnestic study]. / Studie zur stationären Langzeittherapie der extremen juvenilen Adipositas. Jeder Zweite nimmt langfristig ab.

Eighteen months after completion of long-term treatment of 98 extremely overweight juveniles in the rehabilitation center Insula, this study revealed an improvement in the age-specific body mass index (BMI-SDS) in 55.1% of the cases, when all the non-responders (approx. 22%) were evaluated as failures. An improvement of at least 0.2 or 0.5 BMI SDS points was achieved in 41.8% and 21.4%, respectively.

Morphology of the distal thoracic duct and the right lymphatic duct in different head and neck pathologies: an imaging based study.

BACKGROUND: The purpose of this study was to assess the influence of head and neck pathologies on the detection rate, configuration and diameter of the thoracic duct (TD) and right lymphatic duct (RLD) in computed tomography (CT) of the head and neck. METHODS: One hundred ninety-seven patients were divided into the subgroups "healthy", "benign disease" and "malignant disease". The interpretation of the images was performed at a slice thickness of 3 mm in the axial and coronal plane. In each case we looked for the distal part of the TD and RLD respectively and subsequently evaluated their configuration (tubular, sacciform, dendritic) as well as their maximum diameter and correlated the results with age, gender and diagnosis group. RESULTS: The detection rate in the study population was 81.2 % for the TD and 64.2 % for the RLD and did not differ significantly in any of the subgroups. The predominant configuration was tubular. The configuration distribution did not differ significantly between the diagnosis groups. The mean diameter of the TD was 4.79 ± 2.41 mm and that of the RLD was 3.98 ± 1.96 mm. No significant influence of a diagnosis on the diameter could be determined. CONCLUSIONS: There is no significant influence of head/neck pathologies on the CT detection rate, morphology or size of the TD and RLD. However our study emphasizes that both the RLD and the TD are detectable in the majority of routine head and neck CTs and therefore reading physicians and radiologists should be familiar with their various imaging appearances.

A web based cross-platform application for teleconsultation in radiology.

The growing complexity of radiologic examinations and interventional procedures requires frequent exchange of knowledge. Consequently a simple way to share and discuss patient images between radiology experts and with colleagues from other medical disciplines is needed. Aims of this work were the development and initial performance evaluation of a fast and user friendly, platform independent teleconsultation system for medical imaging. A local back end system receives DICOM images and generates anonymized JPEG files that are uploaded to an internet webserver. The front end running on that webserver comprises an image viewer with a specially developed pointer element for indicating findings to collaborative partners. The front end that uses only standard web technologies works on a variety of different platforms, mobile devices and desktop computers. Images can be accessed by simply calling up a special internet address in a web browser that may be exchanged between users (e.g. via email). A speed evaluation of the system showed good results: For example the preparation and upload of a standard head CT took less than 21 seconds. The data volume of the same series and the viewer application could be transferred to a mobile phone in less than 42 seconds via a UMTS network or in less than 3 seconds via a HSPA network. The presented system with its minimal hard- and software requirements, its simplicity and platform independence might be a promising tool in the increasingly important area of teleconsultation.

Serotonin transporter gene-linked polymorphic region: allele distributions in relationship to body weight and in anorexia nervosa.

Several lines of evidence implicate a role for the serotonergic system in body weight regulation and eating disorders. The magnitude and duration of postsynaptic responses to serotonin (5-HT) is directed by the transport into and release from the presynaptic neuron. Recently, a common polymorphism of a repetitive element in the region of the serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) was identified that results in a system of two common alleles. The activity of the 5-HTT, as measured in in vitro assays and in human lymphoblastoid cell lines, is dependent on the respective genotype. We thus hypothesized that this polymorphism is relevant for weight regulation in general and is possibly involved in the etiology of anorexia nervosa (AN). Allele frequencies and genotypes were determined in a total of 385 unrelated obese children, adolescents and adults, 112 underweight subjects and 96 patients with AN. Furthermore, both parents of 98 obese children and adolescents and of 55 patients with AN, respectively, were genotyped, thus allowing to test for both association and linkage. The comparison of allele frequencies between obese and underweight probands provided no evidence for a major role of the 5-HTTLPR in weight regulation. Patients with AN had allele frequencies not significantly different to those observed for obese and underweight individuals.