More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.

TRIO is a Dbl family guanine nucleotide exchange factor (GEF) and an important regulator of neuronal development. Most truncating and missense variants affecting the Dbl homology domain of TRIO are associated with a neurodevelopmental disorder with microcephaly (MIM617061). Recently, de novo missense variants affecting the spectrin repeat region of TRIO were associated with a novel phenotype comprising severe developmental delay and macrocephaly (MIM618825). Here, we provide more evidence on this new TRIO-associated phenotype by reporting two severely affected probands with de novo missense variants in TRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.

The mid-point transverse process to pleura (MTP) block: a new end-point for thoracic paravertebral block.

Current descriptions of thoracic paravertebral block techniques require the needle tip to be anterior to the superior costotransverse ligament. We hypothesised that an injection point midway between the posterior border of the transverse process and the pleura would result in spread to the paravertebral space. We completed bilateral injections of 5 ml methylene blue 0.2% midway between the posterior border of the transverse process and the pleura at T2, T4, T6, T8 and T10 in three unembalmed cadavers. The presence of methylene blue dye at the nerve root in the paravertebral space, the corresponding intercostal nerve and sympathetic chain at the level of injection, and at additional levels, was examined. We identified the superior costotransverse ligament, pleural displacement and spread to the erector spinae plane. We describe two case reports using this technique in patients. Our cadaver results and clinical cases demonstrate that, with the exception of cadaver 1, an injection point midway between the posterior border of the transverse process and pleura consistently achieved spread of dye at least to the paravertebral space at the level of injection, and frequently to adjacent levels. This may be a plausible explanation for the landmark technique's inability to reliably achieve a multilevel block. We describe a new ultrasound-guided technique for a single level paravertebral block.

Correction to: The MINDMAP project: mental well-being in urban environments : Design and first results of a survey on healthcare planning policies, strategies and programmes that address mental health promotion and mental disorder prevention for older people in Europe.

Correction to: Z Gerontol Geriat 2017 https://doi.org/10.1007/s00391-017-1290-7 The article "The MINDMAP project: mental well-being in urban environments. Design and first results of a survey on healthcare planning policies, strategies and programmes that address mental health promotion and mental disorder prevention for older people in …The original article was corrected.

The MINDMAP project: mental well-being in urban environments : Design and first results of a survey on healthcare planning policies, strategies and programmes that address mental health promotion and mental disorder prevention for older people in Europe.

BACKGROUND: The MINDMAP consortium (2016-2019) aims to identify opportunities provided by the urban environment for the promotion of mental well-being and functioning of older people in Europe by bringing together European cities with urban longitudinal ageing studies: GLOBE, HAPIEE, HUNT, LASA, LUCAS, RECORD, Rotterdam Study, Turin Study. A survey on mental healthcare planning policies and programmes dedicated to older persons covering the range from health promotion to need of nursing care was performed for profound data interpretation in Amsterdam, Eindhoven, Hamburg, Helsinki, Kaunas, Krakow, London, Nord-Trøndelag, Paris, Prague, Rotterdam and Turin. OBJECTIVES: To collect detailed information on healthcare planning policies and programmes across these European cities to evaluate variations and to delineate recommendations for sciences, policies and planners using experience from evidence-based practice feedback from the MINDMAP cities. MATERIALS AND METHODS: The MINDMAP partners identified experts in the 12 cities with the best background knowledge of the mental health sector. After pretesting, semi-structured telephone interviews (1-2 h) were performed always by the same person. A structured evaluation matrix based on the geriatric functioning continuum and the World Health Organization (WHO) Public Health Framework for Healthy Ageing was applied. RESULTS: A complete survey (12 out of 12) was performed reporting on 41 policies and 280 programmes on the city level. It appeared from extensive analyses that the focus on older citizens, specific target groups, and multidimensional programmes could be intensified. CONCLUSION: There is a broad variety to cope with the challenges of ageing in health, and to address both physical and mental capacities in older individuals and their dynamic interactions in urban environments.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, and some craniofacial and limb abnormalities. Mutations in one of the five genes NIPBL, SMC1A, SMC3, HDAC8 or RAD21, were identified in at least 70% of the patients with CdLS. Consequently, additional causative genes, either unknown or responsible of partially merging entities, possibly account for the remaining 30% of the patients. In contrast, KBG has only been associated with mutations in ANKRD11. By exome sequencing we could identify heterozygous loss-of-function mutations in ANKRD11 in two patients with the clinical diagnosis of CdLS. Both patients show features reminiscent of CdLS such as characteristic facies as well as a small head circumference which is not described for KBG syndrome. Patient A, who carries the mutation in a mosaic state, is a 4-year-old girl with features reminiscent of CdLS. Patient B, a 15-year-old boy, shows a complex phenotype which resembled CdLS during infancy, but has developed to a more KBG overlapping phenotype during childhood. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes.

[Clinical characteristics and follow-up of 60 patients with recent diagnosis of giant cell arteritis, NEWTON study]. / Caractéristiques et profils évolutifs des patients avec un diagnostic récent d'artérite à cellules géantes, étude NEWTON.

INTRODUCTION: The management of giant cell arteritis (GCA) has evolved with the arrival of tocilizumab (TCZ) and the use of PET/CT. Our objective is to describe the characteristics and followup of patients with recent diagnosis of GCA in current care. PATIENTS AND METHODS: The NEWTON cohort is a monocentric retrospective cohort based on data collected from 60 GCA patients diagnosed between 2017 and 2022 according to the ACR/EULAR 2022 criteria. RESULTS: The median age at diagnosis was 73 [68.75; 81] years old. At diagnosis, the main manifestations were unusual temporal headaches in 48 (80 %) and an inflammatory syndrome in 50 (83 %) patients. Temporal artery biopsy confirmed the diagnosis in 49/58 (84 %) patients. Doppler of the temporal arteries found a halo in 12/23 (52 %) patients. The PET/CT found hypermetabolism in 19/43 (44 %) patients. Prednisone was stopped in 17.5 [12.75; 24.25] months. During follow-up, 22 (37 %) patients received TCZ. At least one complication of corticosteroid therapy was observed in 22 (37 %) patients. After a median follow-up of 24 [12; 42] months, 25 (42 %) patients relapsed. At the end of the follow-up, 29 (48.3 %) patients were weaned from corticosteroid therapy and 15 (25 %) were on TCZ. CONCLUSION: Despite the increasing use of TCZ in the therapeutic arsenal and of the PET/CT in the imaging tools of GCA patients, relapses and complications of corticosteroid therapy remain frequent, observed in more than a third of patients.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance. By mutational analysis of the PRKAR1A gene we detected four different mutations (p.Arg368Stop, p.Ala213Thr, p.Tyr373Cys, and p.Arg335Cys) in four of seven affected patients with acrodysostosis. The combination of clinical results, endocrinological parameters and in silico mutation analysis gives evidence to suppose a pathogenic effect of each mutation. This assumption is supported by the de novo origin of these mutations. Apart from typical radiological abnormalities of the hand bones, elevated thyroid stimulating hormone and parathyroid hormone values as well as short stature are the most common findings. Less frequent features are characteristic facial dysmorphisms, sensorineural hearing loss and mild intellectual disability. These results lead to the conclusion that mutations of PKRAR1A are the major molecular cause for acrodysostosis with endocrinological abnormalities. In addition, in our cohort of 44 patients affected with brachydactyly type E (BDE) we detected only one sequence variant of PRKAR1A (p.Asp227Asn) with an unclear effect on protein function. Thus, we conclude that PRKAR1A mutations may play no major role in the pathogenesis of BDE.

Effects of silver nanoparticles on microbial growth dynamics.

AIMS: Engineered metal nanoparticles are increasingly used in consumer products, in part as additives that exhibit advantageous antimicrobial properties. Conventional nanoparticle susceptibility testing is based largely on determination of nontemporal growth profiles such as measurements of inhibition zones in common agar diffusion tests, counting of colony-forming units, or endpoint or regular-interval growth determination via optical density measurements. For better evaluation of the dynamic effects from exposure to nanoparticles, a cultivation-based assay was established in a 96-well format and adapted for time-resolved testing of the effects of nanoparticles on micro-organisms. METHODS AND RESULTS: The modified assay allowed simultaneous cultivation and on-line analysis of microbial growth inhibition. The automated high-throughput assay combined continuous monitoring of microbial growth with the analysis of many replicates and was applied to Cupriavidus necator H16 test organisms to study the antimicrobial effects of spherical silver [Ag(0)] nanoparticles (primary particle size distribution D90 < 15 nm). Ag(0) concentrations above 80 µg ml(-1) resulted in complete and irreversible inhibition of microbial growth, whereas extended lag phases and partial growth inhibition were observed at Ag(0) concentrations between 20 and 80 µg ml(-1) . Addition of Ag(0) nanoparticles at different growth stages led to either complete inhibition (addition of 40 µg ml(-1) Ag(0) from 0 h to 6 h) or resulted in full recovery (40 µg ml(-1) Ag(0) addition ≥9 h). CONCLUSIONS: Contrary to the expected results, our data indicate growth stimulation of C. necator at certain Ag(0) nanoparticle concentrations, as well as varying susceptibility to nanoparticles at different growth stages. SIGNIFICANCE AND IMPACT OF THE STUDY: These results underscore the need for time-resolved analyses of microbial growth inhibition by Ag(0) nanoparticles. Due to the versatility of the technique, the assay will likely complement existing microbiological methods for cultivation and diagnostics of microbes, in addition to tests of other antimicrobial nanoparticles.

[National health target "healthy ageing". Medical, psychosocial and nursing care for elderly people]. / Nationales Gesundheitsziel "Gesund älter werden". Handlungsfeld II: Medizinische, psychosoziale und pflegerische Versorgung älterer Menschen.

What kind of health targets should be pursued concerning the health care of elderly people? What kind of activities should be implemented to ensure good health care with regard to future challenges? The Association for the Continuous Development of the National Health Target Process, health-targets.de, deals with these issues under the new national health target "Healthy Ageing". We develop concrete objectives and proposals for practical implementation in the areas of "outpatient and inpatient care", "nursing" and "rehabilitation in old age". health-targets.de supports a common health target process and initiates interventions in the field of health care for elderly people.

[Shock, hemoconcentration, and generalized edema in a 47-year-old man]. / Schock, Hämokonzentration und generalisierte Ödeme bei 47-jährigem Patienten.

We report the case of a 47-year-old man who was admitted because of syncope. Upon hospital admission, he rapidly developed circulatory shock with generalized edema and a severe hemoconcentration with a hematocrit of 70%. The condition was stabilized with infusion of 17 l of cristalloid fluids over a period of 24 h. After ruling out possible secondary causes, the diagnosis of a systemic capillary leak syndrome--a severe transient endothelial barrier dysfunction of unknown origin--was made. A triad of hypotension, hemoconcentration (hematocrit >60%) and macromolecular extravasation is the typical finding; furthermore, a strong association with monoclonal gammopathy of unknown significance (MGUS) is described.

Differences in the personality profile of fibromyalgia patients and their relatives with and without fibromyalgia.

OBJECTIVES: To investigate whether Fibromyalgia (FM) patients differ from their first-degree relatives with and without FM regarding the four personality traits, based on Cloninger's TPQ questionnaire (1). METHODS: The study population was obtained from a genetic study from 2003-2007 and included 129 female FM patients, 27 female relatives with undiagnosed FM and 30 female relatives without FM. All participants completed a socio-demographic questionnaire and the Tridimensional Personality Questionnaire (TPQ) (1) that refers to four personality dimensions: 'novelty seeking', 'harm avoidance', 'reward dependence' and 'persistence'. Non-articular tenderness was evaluated by tender point count and by dolorimetry. RESULTS: FM patients and their relatives with FM had higher scores on 'harm avoidance' than relatives without FM (p<0.001, p=0.017 respectively). Furthermore, the mean point counts of FM patients were significantly higher and their tenderness thresholds were significantly lower than that of their relatives in the other two groups (p<0.001; p<0.001, respectively). CONCLUSIONS: The findings suggest that relatives with FM display personality resemblance to FM patients especially in the personality trait harm avoidance. It appears that there are factors in this personality trait that are hereditary and that may contribute to the development of FM. However, the results could not differentiate between factors from a genetic or a non-genetic origin, due to the study design. In addition, FM's place as an independent component among genetic disorders such as pain, depression and anxiety is still unclear.

A tale of two cities - the effect of low intensity conflict on prevalence and characteristics of musculoskeletal pain and somatic symptoms associated with chronic stress.

UNLABELLED: Although both acute and chronic stress leads to pain, the precise characteristics of this association have not been well defined. Sderot is an Israeli town exposed to repeated missile attacks. Ofakim, a town of similar demographic and socioeconomic characteristics, had not been targeted, as of the period of our study. We examined the occurrence and characteristics of pain and related somatic symptoms in Sderot and Ofakim. METHODS: One thousand and twenty-four individuals in Sderot and 1006 in Ofakim were interviewed regarding pain, somatic symptoms, mood, trauma-exposure, and general health status. RESULTS: Significantly higher levels of trauma-related symptoms and somatic symptoms were noted in Sderot compared with Ofakim (p<0.001). Chronic widespread pain (CWP) was more common in Sderot (11.1%) than Ofakim (8.3%; OR 1.37, p=0.038). Women were more likely (13.9% vs. 9.3%; OR 1.45, p=0.06) than men (8.9% vs. 7.3%, OR 1.24, p=0.37) to experience CWP in Sderot vs. Ofakim. Amongst males, chronic regional pain (CRP) was more common in Sderot (19.2%) than in Ofakim (14.2%; p=0.036). Pain severity in Sderot was significantly higher than in Ofakim (p<0.001). CONCLUSIONS: Similar to previous studies that have suggested that chronic stress is associated with chronic pain, this study demonstrates significantly increased rates of somatic complaints, including pain, fatigue and IBS-like symptoms, among individuals in Sderot compared with Ofakim, as well as significantly higher rates of trauma-related symptoms. Thus, a fibromyalgia-like symptoms cluster was more likely to be found in Sderot compared with Ofakim. Widespread pain was reported as being significantly more frequent by inhabitants of Sderot compared with Ofakim. These results have relevance to both the general population and for populations enduring chronic stress.

Are psychological distress symptoms different in fibromyalgia patients compared to relatives with and without fibromyalgia?

OBJECTIVES: Investigating psychological distress symptoms in the context of fibromyalgia (FM) is important due to their role in pain perception, and in the development of pain related disability. Although The Symptom Check-List-90-Revised (SCL-90-R) (1) questionnaire was used to evaluate psychological distress symptoms in FM patients, it was not applied in a familial context in families of FM patients. Our aim was to identify possible differences between FM patients and their relatives with and without FM regarding psychological distress symptoms. METHODS: The participants of the current investigation included 127 diagnosed female patients with FM, and 57 of their first degree relatives, 27 of whom had previously undiagnosed FM. Psychological distress was measured using The Symptom Check-List-90-Revised (SCL-90-R), a self report symptom inventory that addresses 9 distress dimensions reflecting various types of psychopathology. RESULTS: FM patients reported significantly higher severity in 6 of the 9 distress symptoms compared to relatives without FM: somatisation, obsessive-compulsive, interpersonal sensitivity, depression, anxiety and psychoticism. Similar results were observed among relatives with FM, compared to the healthy group, except for anxiety. No differences were observed between FM patients and relatives with FM in the report of psychological distress. CONCLUSIONS: FM patients and relatives with FM expressed similar symptoms of psychological distress compared to the healthy group.

The relationship between a common catechol-O-methyltransferase (COMT) polymorphism val(158) met and fibromyalgia.

OBJECTIVES: Fibromyalgia syndrome (FM) is an idiopathic chronic pain syndrome characterised by widespread nonarticular musculoskeletal pain, generalised tender points, in the absence of inflammatory or structural musculoskeletal abnormalities, accompanied by a constellation of symptoms that include fatigue and disturbances of sleep and mood. Catechol-O-methyltransferase (COMT) is the major catecholamine-clearing pathway and involved in the mediation of pain perception in humans, and the hypothesized role of pain perception in FM. The association between Val/Met polymorphism at the COMT gene was evaluated in FM disorder. METHODS: 209 FM female patients were compared with 152 of their non-affected relatives. DNA was obtained from all family members and extracted. We used the logistic based variant of the transmission disequilibrium test to assess association (and linkage) without confounding effect of population stratification. RESULTS: We observed an association between FM and the COMT val(158) met polymorphism in a dose response effect of the COMT genotype and the number of pressure points reported. We also observed that non-affected relatives of FM patients had a reduced percentage of the COMT met allele. CONCLUSIONS: Our results are consistent with carriers of the COMT met/met genotype showing increased sensitivity to pain as one mechanism for the role of this gene in conferring risk for FM. We suggest that the reduced frequency of the met allele in the non-affected relatives acts as a 'protective' allele in this group and prevents the development of clinical FM.

[Family screening in patients with retinal angiomatosis]. / Familienuntersuchungen bei Patienten mit Angiomatosis retinae.

BACKGROUND: The aim of this study was to characterise the results of a screening for von Hippel-Lindau disease (VHL), angiomatosis retinae (AR) and further VHL lesions in at-risk relatives of ophthalmological VHL index patients. METHODS: A retrospective analysis of 20 VHL index patients identified by the presence of angiomatosis retinae and a mutation of the VHL gene was carried out. A molecular genetic test for a VHL mutation and funduscopy was offered to all available at-risk relative. In the case of a positive test result, repeated screening for AR and further VHL lesions were suggested. RESULTS: Fifty-one out of 86 first- and second-degree relatives were screened, and 73 % showed a VHL mutation. At first presentation, asymptomatic AR was present in 55 %, at the end of the study in 72 % of gene carriers. In contrast to the index patients, angiomas were small and could be treated without functional loss. During the study 4 eyes of index patients developed blindness, whereas in the affected relatives no such event occurred. Affected relatives developed further VHL lesions to the same number and extent as the index patients. CONCLUSIONS: This study demonstrates the necessity of a screening of at-risk relatives of patients with AR and VHL. Molecular genetic screening allows an early identification of affected relatives. Early and regular screening enables the detection of small retinal angiomas and their treatment without functional loss.

Solid-state sensors based on Eu3+-containing supramolecular polymers with luminescence colour switching capability.

Polymers that exhibit changes of their luminescence colour in response to external stimuli are attractive candidates for sensing systems. We herein report the preparation of europium-based metallosupramolecular polymers, which can be processed into films and coatings that display readily detectable luminescence colour changes in response to various types of analytes.

Health Promotion and Preventive Care Intervention for Older Community-Dwelling People: Long-Term Effects of a Randomised Controlled Trial (RCT) within the LUCAS Cohort.

OBJECTIVES: An RCT of a health promotion and preventive care intervention was done in 2001-2002. Here, long-term analyses based on 12 years of follow-up of survival and of change in functional competence between intervention and control group are presented. Positive 1-year results (significantly higher use of preventive services and better health behaviour) were presented earlier. DESIGN: Parallel group randomised controlled trial (RCT) with 878 participants in the intervention and 1,702 participants in the control group. SETTING: The study took place in Hamburg, Germany and made use of health care structures and professionals of a geriatrics centre. PARTICIPANTS: Study participants were initially community-dwelling, aged 60 years and older and without B-ADL-restrictions, cognitive impairment, or need of nursing care, with sufficient command of the German language. INTERVENTIONS: Health promotion and preventive care interventions relied on an extensive health questionnaire and the subsequent offer to participate in multi-topic personal reinforcement performed in small group sessions or at preventive home visits. MEASUREMENTS: Primary outcome: Survival time; in some analyses, adjustments were made for gender, age and self-perceived health. Secondary outcome: Functional competence (LUCAS Functional Ability Index) based on responses to self-administered questionnaires at 1-year follow-up and 12 years after 1-year follow-up (2013/2014). RESULTS: Mean time under observation was 10.3 years. 38.3% (987/2,580) of the participants died; intervention group (IG): 35.7% (313/878), control group (CG): 39.6% (674/1,702); HR=0.89; p=0.09. Functional competence at 1-year follow-up: IG: ROBUST 67.4% (391/580), FRAIL 11.9% (69/580) vs. CG: ROBUST 62.9% (861/1,368), FRAIL 14.8% (203/1,368); p=0.12. 12-years after 1-year follow-up: IG: ROBUST 50.0% (160/320), FRAIL 30.9% (99/320) vs. CG: ROBUST 48.9% (307/628), FRAIL 34.1% (214/628); p=0.56. CONCLUSIONS: Insignificant but consistent effects on survival and the dynamics of functional competence suggest effectivity of the complex intervention. We plan to take a closer look at the effect of each reinforcement separately.

Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13.

We report a young girl with microphthalmia, conductive deafness, aortic isthmus stenosis, laryngomalacia, and laryngeal stenosis carrying a de novo supernumerary neocentromeric derivative chromosome 13. For the precise identification and characterization of the eu- and heterochromatic content of the marker chromosome, straightforward molecular cytogenetic analyses were performed, such as chromosome microdissection, FISH with different probes (e.g. wcp, alphoid centromeric probes, BAC), centromere-specific multicolor FISH (cenM-FISH), and multicolor banding (MCB). The analyses demonstrated that the marker consisted of an inverted duplication (partial tetrasomy) of the distal portion of chromosome 13 that was separated from the endogenous chromosome 13 centromere. Using an all-centromere probe and multicolor cenM-FISH, no alpha-satellite DNA hybridization signal was detectable on any portion of the derivative chromosome. The presence of a functional and active neocentromere on the derivative chromosome 13 was confirmed by positive immunofluorescence signals with CENP-C antibodies. BAC-FISH confirmed the cytogenetic localization of the neocentromere in band 13q31.3. Thus the patient had a mosaic conventional karyotype mos 47,XX,+inv dup(13)(qter-->q21.3::q21.3-->q31.3-->neo-->q31.3-->qter)[6]/46,XX [49].

[Ultrasound guided implantation of chest port systems via the lateral subclavian vein]. / Die sonographisch gezielte Implantation von Portkathetersystemen über die laterale Vena subclavia.

PURPOSE: Retrospective analysis of the success and complication rates of chest port implantation via the lateral subclavian vein. MATERIALS AND METHODS: Between January 2003 and June 2004, the lateral subclavian vein in 271 patients (186 women, 85 men, mean age 53.2 years) was punctured guided by ultrasound. This access was used to insert a port system, and the catheter tip was placed at the cavoatrial junction. The port reservoir was implanted in a subcutaneous infraclavicular pocket and fixed to the fascia of the pectoralis muscle. Indications for port implantation were chemotherapy (n = 239), total parenteral nutrition (n = 2) and intravenous medication (n = 30). The patient follow-up was mainly performed either by the oncology division of the department of gynecology or by the department of internal medicine. RESULTS: A chest port catheter system was successfully implanted in all patients. The catheter remained in place for a mean duration of 269.4 days (SD 192.3 days). No complications occurred during implantation. In the post-interventional period, 6 catheter dysfunctions were found (thrombotic 0.09 per 1000 catheter days; mechanic 0.05 per 1000 catheter days). While one local infection occurred in the early post-interventional period, 3 local and 15 systemic infections were independent of the port catheter placement (0.39 per 1000 catheter days). The rate of port catheter ex-plantation due to dysfunction or infection was 0.07 per 1000 catheter days. CONCLUSION: Ultrasound-guided puncture of the lateral subclavian vein is a safe procedure for the insertion of central venous port catheter systems and had a very low complication rate in our study. For further evaluation of our port placement technique, prospective studies compared to placement through the internal jugular vein are necessary.

[Ocular manifestations and surgical results in patients with Marfan syndrome]. / Okuläre Manifestationen und chirurgische Ergebnisse beim Marfan-Syndrom.

AIM: This retrospective study should examine and judge the surgical indications and the therapeutic possibilities as well as their complications in patients with ocular manifestations of Marfan syndrome (MFS) diagnosed according to the criteria of the Ghent nosology. PATIENTS AND METHODS: The study included 17 patients. Operative indications were increasing subluxation of the lens, retinal detachments and secondary glaucoma. The operative procedure depended on patient age and findings. Eleven MFS patients were operated in both eyes and six MFS patients in one eye. RESULTS: Stabilization or functional improvement of visual acuity could be achieved in all patients in whom no disorders limiting visual acuity or amblyopia were present preoperatively. In six eyes of five patients, lens insertion was accomplished via a pars plana approach. Lens removal without implantation of an intraocular lens was performed in 16 eyes of 10 patients. Pars plana vitrectomy was accomplished in 12 eyes. Complications were well controlled by pars plana vitrectomy. CONCLUSIONS: Difficult preoperative situations and postoperative complications are not rare in MFS patients. However, they can be controlled well by means of modern vitreous surgery.