Selectivity in Adduct Formation of a Bidentate Boron Lewis Acid.

A bidentate boron Lewis acid based on 1,8-diethynylanthracene has been studied in detail with respect to its adduct formation with diamines and diphosphanes of different linker lengths between the donor functions. A clear correlation between the linker length of the bifunctional base and the formation of 1 : 1 adducts, 1 : 2 adducts or oligomers was found. The adducts were characterized in solution by NMR titration experiments and structurally by X-ray diffraction. In addition, adduct formation and competition experiments of the host system with ZR3 (Z=N, P; R=H, Me) demonstrated the generally higher stability of alkylphosphane adducts compared to alkylamine adducts with boron functions. The results provide a general insight into the adduct formation of bidentate Lewis acids with guests of different sizes as well as the differences in stability between borane-amine and borane-phosphane adducts.

A Bidentate Antimony Pnictogen Bonding Host System.

A bidentate pnictogen bonding host-system based on 1,8-diethynylanthracene was synthesized by a selective tin-antimony exchange reaction and investigated regarding its ability to act as a Lewis acidic host component for the complexation of Lewis basic or anionic guests. In this work, the novel C≡C-Sb(C2 F5 )2 unit was established to study the potential of antimony(III) sites as representatives for the scarcely explored pnictogen bonding donors. The capability of this partly fluorinated host system was investigated towards halide anions (Cl- , Br- , I- ), dimethyl chalcogenides Me2 Y (Y=O, S, Se, Te), and nitrogen heterocycles (pyridine, pyrimidine). Insights into the adduct formation behavior as well as the bonding situation of such E⋅⋅⋅Sb-CF moieties were obtained in solution by means of NMR spectroscopy, in the solid state by X-ray diffraction, by elemental analyses, and by computational methods (DFT, QTAIM, IQA), respectively.

Addictions in patients with atopic dermatitis: a cross-sectional pilot study in Germany.

BACKGROUND: Atopic dermatitis (AD) is the most common chronic inflammatory skin disease worldwide and displays many atopic, but also non-atopic comorbidities. Among the latter, mental health disorders such as depression have been extensively studied. However, data on addictions are still rare. OBJECTIVES: The aim of this study was to assess the prevalence of different kinds of addictions in adult AD patients using a single-centre approach. METHODS: This non-interventional cross-sectional study was performed from 03/2020 to 05/2020 at the Department of Dermatology of a large German university hospital. Participants with a diagnosis of AD confirmed by a dermatologist answered questions about disease severity (patient-oriented eczema measure, POEM), quality of life (Dermatology Life Quality Index, DLQI) and smoking habits. They were screened for problematic alcohol consumption, drug abuse, internet addiction and pathological gambling using internationally established and validated questionnaires. RESULTS: 157 patients (56.1% female; mean age of 49.9 ± 20.4) with an average POEM of 13.7 ± 7.5 and DLQI of 6.1 ± 5.4 were evaluated. 14.1% were identified as regular smokers, 12.1% screened positive for alcohol dependency, 6.4% for drug use disorders, 4.5% for Internet addiction and 3.2% for pathological gambling. Co-occurrences of different addictions were observed, and a positive correlation was noted between DLQI scores and smoking. CONCLUSIONS: In summary, this study hints at elevated positive screening rates for problematic alcohol consumption, drug use disorders, Internet addiction and problem gambling compared with the general population. Screening routinely for addictions may improve patient-centred health care of AD patients.

[Recommendations for unicondylar knee replacement in the course of time : A current inventory]. / Empfehlungen zur unikondylären Schlittenendoprothetik im Wandel der Zeit : Eine aktuelle Bestandsaufnahme.

BACKGROUND: A higher patient satisfaction stands in contrast to higher revision rates of unicondylar knee joint endoprosthetics (UKE) compared to total knee joint endoprosthetics (TKE). Furthermore, old "dogmas" regarding indications and contraindications persist, which is still reflected in the significantly different case numbers. AIM: The aim of this article is to provide an overview of the current literature regarding 1. indication and contraindication (BMI, age, sport, arthrosis of other compartments, ligament status) and 2. the "eternal rival" fixed or mobile bearing for UKE. RESULTS: The choice of the right patient remains essential, even if all the old "dogmas" of contraindications have been relativized or even outdated. Arthroses of the contralateral (in medial UKE correspondingly lateral) compartment and advanced arthroses of the lateral patella facet remain the only persistent contraindications. In contrast, a high BMI, age, chondrocalcinosis, medial patella facet and a defective (but particularly functionally stable) ACL are not contraindications; however, severe obesity is responsible for a significantly higher complication rate and probably a higher rate of loosening. Rather, the experience and thus the number of UKEs of the individual surgeon is decisive for the outcome, to which the discussion about mobile or fixed inlays must also be completely subordinated. CONCLUSION: The indications for UKE can, therefore, be extended with a clear conscience on the basis of literature, and the current 1:10 UKE:TKE ratio in Germany can be shifted significantly.

Customised bi-compartmental knee arthroplasty shows encouraging 3-year results: findings of a prospective, multicenter study.

PURPOSE: The purpose of this study was to assess the clinical and patient-reported outcomes of a customised, individually made (CIM) bi-compartmental knee arthroplasty (BKA). METHODS: A prospectively recruited cohort of 79 patients was implanted with a CIM-BKA (patello-femoral plus either medial or lateral tibio-femoral, iDuo G2 system, Conformis, Billerica MA) at eight centres in the US and Germany. Patients were assessed for the 2011 KSS, KOOS, and ROM pre-operatively and at 2 weeks, 6 weeks, 12 weeks, 1 year, and 2 years post-operatively. RESULTS: The objective KSS score significantly improved from 69 at the pre-operative visit, to 94 at the 2-year post-operative time-point. Similar improvements were observed for the KSS function and satisfaction domains. Significant improvements from pre-operative levels were observed across all five domains of the KOOS. Two patients have undergone surgery to revise their CIM-BKA implant to total knees, resulting in a survivorship rate of 97.5% at an average follow-up of 2.6 years. CONCLUSIONS: CIM-BKA compares favourably to published scores as well as revision rates for previously available monolithic OTS-BKA implants. CIM-BKA implants provide surgeons with a viable and patient-specific monolithic implant solution as an option for patients presenting with bi-compartmental disease, who might, otherwise, be treated by performing uni-condylar + patello-femoral joint or bicruciate sparing TKA surgeries. Longer follow-up and higher numbers have to be awaited for further validation of these encouraging early results. LEVEL OF EVIDENCE: 3b (individual case-controlled study).

Patient-related outcome measurements after operative and conservative management of traumatic proximal adductor longus avulsion injuries.

PURPOSE: In the rare case of complete proximal adductor longus avulsion injuries, scientific recommendations of surgical or conservative injury management are limited to small case series and reviews of small cohorts about treatment examples. A clear consensus regarding optimal management so far has not been made. Thus, the aim of our study was to investigate patient-related outcome measurements (PROM) after either operatively or conservatively treated patients in order to evaluate and display own decision criteria for one of the two treatment options. METHODS: In this retrospective case control study, two cohorts after MRI-confirmed, isolated, acute proximal adductor longus avulsion injury without concomitant injuries was investigated. Depending on stump retraction (less or more than 2 cm), patients of the particular cohorts had either been treated conservatively or by surgical refixation with suture anchors. All patients were asked to complete different PROM forms (Hip Osteoarthritis Outcome Score (HOS), Modified Harris Hip Score (MHHS)) in order to evaluate the particular procedures outcome. RESULTS: Between July 2015 and July 2018, eighteen avulsion injuries met our inclusion criteria, of which 14 were treated conservatively and operatively in equal parts and could be included into the study. The mean stump retraction of the conservative group was 1.3 cm (SD ± 0.5); patients in the surgical group had a mean stump retraction of 3.0 cm (± 1.5). Irrespective of the treatment option, all patients achieved a maximum score using the MHHS. Also in the HOS subscale respecting all day activities, almost all patients (13/14) achieved a maximum score. Instead, using the HOS subscale respecting sportive activities, one surgically and one conservatively treated patient described little restrictions compared with their pre-injury level. CONCLUSION: Conservative as well as operative treatment leads to very good patient-related outcome measurements if the decision for either of the two treatment options is made upon a stump retraction above or below 2 cm. Smaller restrictions regarding pre-injury level could rather be seen in the conservative instead of the operative group, favouring a more generous perspective for surgical refixation.

[Medical care of adults with congenital heart diseases : Present and future]. / Medizinische Versorgung von Erwachsenen mit angeborenen Herzfehlern : Gegenwart und Zukunft.

Congenital heart diseases (CHD) are the most common types of congenital organ defects. Thanks to medical progress in congenital cardiology and heart surgery, most children with CHD reach adulthood. Despite primarily successful treatment residual and subsequent conditions as well as (non)cardiac comorbidities can influence the chronic course of the disease and lead to a higher morbidity and mortality. Adults with congenital heart disease (ACHD) in Germany are not tied to the healthcare structure despite the great need for aftercare. According to the results of the medical care of ACHD (MC-ACHD) study, ACHD centers and specialists in Germany are insufficiently perceived despite increased complication rates and the great need for specialist guidance. General practitioners and patients are not adequately informed about existing ACHD facilities. A better awareness of the ACHD problem should be created at the level of primary medical supply in order to optimize care and to reduce morbidity and mortality. Improved future-oriented patient care includes lifelong regular follow-up and the possibility of interdisciplinary, integrated medical care of CHD.

Patella alta and patellar subluxation might lead to early failure with inlay patello-femoral joint arthroplasty.

PURPOSE: With the growing interest in resurfacing procedures, several new implants have been recently introduced for isolated patello-femoral joint arthroplasty (PFA). However, not much data are available for these new techniques or about the right indications for each type of implant. METHODS: Out of a retrospective cohort of 20 inlay PFA, 11 PFA with an elevated Insall-Salvati index and an increased patello-femoral congruence angle showed an initial satisfactory result, but presented thereafter with recurrent pain and "clunk" phenomena. They were all revised after a median time of 25 months (range 8-28 months) into an onlay technique PFA and analyzed for their failure mode and revision technique. RESULTS: Clinical symptoms such as clunking, as well as abraded areas craniolateral of the inlay implant found intraoperatively, were the main observations of this study. The modified Insall-Salvati index (mISI) was significantly higher in the revised knees compared to the unrevised (median 1.8 versus 1.6; p = 0.041). VAS and KSS significantly improved after revision (median VAS reduction in pain of 4.0 points, median KSS improvement of 20.0 points; p < 0.05). CONCLUSION: Patients with high-normal patellar height index or patella alta, as well as a craniolateral type of arthritis with additional lateralization, should be considered contra-indicated for an inlay technique PFA. They could be considered for a PFA system reaching further proximal into the distal femur. An onlay PFA can be an option for early revision of failed inlay implants. The clinical relevance of this study is that patella alta and patellar subluxation are more difficult to adjust for with an inlay PFJ component. LEVEL OF EVIDENCE: Level IV.

[Total hip arthroplasty in young patients : Bearings and custom-made prostheses]. / Hüftendoprothetik beim jungen Patienten : Gleitpaarungen und Individualendoprothesen.

BACKGROUND: Carefully and correctly implanted components are the prerequisite for the lifespan of a prosthesis. Whether higher levels of activity lead to prior failure of total hip arthroplasty in young patients is controversially discussed. The right choice of bearings is still of great relevance. BEARINGS: Ceramic-on-ceramic as well as polyethylene-on-ceramic bearings achieve comparable results, although ceramic-on-ceramic bearings should be avoided in patients with high demands on their range of motion. Polyethylene-on-metal bearings also show good clinical results, if corrosion between head and stem is absent. Metal-on-metal bearings lead to adverse systemic effects due to metal wear and should be implanted in individual cases only, e. g. as hip resurfacing. Alternative bearings have to give proof of effectivity first. Custom-made prostheses constitute an option for young patients with special conditions of hip anatomy. Planning and study results of these prostheses are elucidated in this review article.

[Revision total hip arthroplasty : Significance of instability, impingement, offset and gluteal insufficiency]. / Revisionsendoprothetik der Hüfte : Bedeutung von Instabilität, Impingement, Offset und Glutealinsuffizienz.

BACKGROUND: Instability is a common cause of failure in primary and, especially, revision total hip arthroplasty. The reasons for instability include implant malpositioning, impingement, inadequate offset reconstruction, and gluteal insufficiency. Impingement following THA and revision THA is divided into prosthetic and bony impingement, and in addition to instability also causes pain in the area of the hip joint. Offset reconstruction during revision THA is of particular biomechanical importance, since insufficient reconstruction leads not only to instability and pain but also to dislocation. Abductor deficiency often occurs after revision THA and leads to a change in gait pattern, instability and pain. AIM: Current diagnostic and treatment procedures for instability, impingement, insufficient offset reconstruction and abductor deficiency after THA and revision THA are summarized. RESULTS AND DISCUSSION: Diagnosis of an instable THA and painful THA includes patient history, physical examination and medical imaging. Thus, in almost all cases, the cause can be determined and treated. Dislocation after primary THA in the early postoperative period can often be treated conservatively if accurate component placement is observed, while a late-onset and recurrent dislocation after primary and revision THA usually needs surgical procedures. To avoid bony and prosthetic THA impingement intraoperative control is absolutely necessary. If possible, the offset reconstruction is based on the condition of the native hip joint and can be achieved by using modular prostheses, neck adapters and different head lengths. Abductor deficiency also occurs frequently after revision THA and can be treated surgically if severe clinical symptoms and fatty degeneration of the abductors have been diagnosed.

Bidentate Boron Lewis Acids: Selectivity in Host-Guest Complex Formation.

Bidentate boron Lewis acids based on 1,8-diethynylanthracene were synthesised in two steps by initial stannylation of the terminal alkynes and subsequent tin-boron exchange with different chloroboranes. The reactions were very selective, and the target compounds were obtained in high purity and good to excellent yields. Complexation experiments of 1,8-bis[(diphenylboranyl)ethynyl]anthracene with nitrogen bases (pyridine, pyrimidine, TMEDA) afforded three stable adducts, which were structurally characterised by X-ray diffraction. Competition experiments demonstrated the selective exchange of guests, and quantum-chemical calculations provided information on their energetics. NMR experiments at low temperature gave insight into the dynamic behaviour of the TMEDA adduct.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Conditioned pain modulation identifies altered sensitivity in extremely preterm young adult males and females.

BACKGROUND: Conditioned pain modulation is a potential biomarker for risk of persistent pain. As early-life experience can alter subsequent somatosensory processing and pain response, we evaluated conditioned pain modulation after extremely preterm birth. METHODS: This observational study recruited extremely preterm (<26 weeks gestation; n=98) and term-born control (n=48) young adults (19-20 yr) from the longitudinal EPICure cohort. Pressure pain threshold (PPT; variable test stimulus lower leg) was measured before, during, and after a conditioning stimulus (contralateral hand immersion; 5°C water; 30 s). Questionnaires assessed current pain, medication use, anxiety, and pain catastrophising. RESULTS: For participants tolerating conditioning, there were significant main effects of extremely preterm status, sex, and time on PPT during and after hand immersion. Inhibitory modulation was evoked in 64/98 extremely preterm (3, no change) and 38/48 term-born control (3, facilitation) subjects. The conditioned pain modulation effect (percentage change in PPT) did not differ between the extremely preterm and term-born control groups {53% [95% confidence interval (CI): 41-65] vs 57% [95% CI: 42-71]}. Reduced cold tolerance (<20 s) hampered conditioned pain modulation quantification in a higher proportion of extremely preterm participants [extremely preterm vs term-born control: 31/98 (32%) vs 7/48 (15%); P=0.03]. One-third of extremely preterm females withdrew the hand before parallel PPT (<15 s), and had lower baseline PPT than term-born control females [4.9 (95% CI: 4.8-5.1) vs 5.3 (95% CI: 5.1-5.5) ln kPa; P=0.02]. Higher anxiety, pain catastrophising, and medication use correlated with pain intensity, but not conditioned pain modulation effect. CONCLUSIONS: Cold conditioning evoked inhibitory modulation in the majority of young adults and identified a subgroup of extremely preterm females with increased baseline sensitivity. Early-life experience and sex/gender should be considered when evaluating persistent pain risk with conditioned pain modulation.

Somatosensory function and pain in extremely preterm young adults from the UK EPICure cohort: sex-dependent differences and impact of neonatal surgery.

BACKGROUND: Surgery or multiple procedural interventions in extremely preterm neonates influence neurodevelopmental outcome and may be associated with long-term changes in somatosensory function or pain response. METHODS: This observational study recruited extremely preterm (EP, <26 weeks' gestation; n=102, 60% female) and term-born controls (TC; n=48) aged 18-20 yr from the UK EPICure cohort. Thirty EP but no TC participants had neonatal surgery. Evaluation included: quantitative sensory testing (thenar eminence, chest wall); clinical pain history; questionnaires (intelligence quotient; pain catastrophising; anxiety); and structural brain imaging. RESULTS: Reduced thermal threshold sensitivity in EP vs TC participants persisted at age 18-20 yr. Sex-dependent effects varied with stimulus intensity and were enhanced by neonatal surgery, with reduced threshold sensitivity in EP surgery males but increased sensitivity to prolonged noxious cold in EP surgery females (P<0.01). Sex-dependent differences in thermal sensitivity correlated with smaller amygdala volume (P<0.05) but not current intelligence quotient. While generalised decreased sensitivity encompassed mechanical and thermal modalities in EP surgery males, a mixed pattern of sensory loss and sensory gain persisted adjacent to neonatal scars in males and females. More EP participants reported moderate-severe recurrent pain (22/101 vs 4/48; χ2=0.04) and increased pain intensity correlated with higher anxiety and pain catastrophising. CONCLUSIONS: After preterm birth and neonatal surgery, different patterns of generalised and local scar-related alterations in somatosensory function persist into early adulthood. Sex-dependent changes in generalised sensitivity may reflect central modulation by affective circuits. Early life experience and sex/gender should be considered when evaluating somatosensory function, pain experience, or future chronic pain risk.

Duodenal intussusception of the remnant stomach after biliopancreatic diversion: a case report.

BACKGROUND: We present a rare case of an antegrade intussusception of the remnant stomach four years after a biliopancreatic diversion. CASE PRESENTATION: A 55-year-old female patient presented with epigastric pain in our emergency room. Laboratory parameters showed an anemia as well as elevated transaminases and hyperbilirubinemia. The CT scan showed an intussusception of the remnant stomach into the duodenum followed by cholestasis. At laparotomy the remnant stomach was resected. CONCLUSION: Bowel obstruction and intussusception after bariatric surgery are a rare but often unrecognized complication. Sonography as well as a CT scan should be performed. The exploratory laparoscopy however is the most valuable diagnostic tool in patients with suspected intussusception, due to the high rate of non-specific symptoms and misinterpreted radiographic investigations.

[Joint-preserving operative treatment of avascular necrosis of the femoral head]. / Operative gelenkerhaltende Therapie der Hüftkopfnekrose.

The cause of avascular necrosis of the femoral head is multifactorial. Conservative treatment is only an option in the early stages. It is only symptomatic and not causative treatment. The implantation of an artificial hip joint should be postponed as the typically affected middle-aged males are right in the middle of their working life. Therefore, some joint-preserving operative therapies might be considered in stages ARCO I-III. Those range from core decompression to osteotomies and grafts, the advantages and disadvantages of which have to be weighted in each case. More recent therapies such as additive stem cells or platelet rich plasma (PRP) combined with core decompression have yet to prove their efficacy.

New quality measure for SNP array based CNV detection.

MOTIVATION: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. Several million individuals have been genotyped on single nucleotide variation arrays, which could be used for genome-wide CNVs association studies. However, CNV calls remain prone to false positives and only empirical filtering strategies exist in the literature. To overcome this issue, we defined a new quality score (QS) estimating the probability of a CNV called by PennCNV to be confirmed by other software. RESULTS: Out-of-sample comparison showed that the correlation between the consensus CNV status and the QS is twice as high as it is for any previously proposed CNV filters. ROC curves displayed an AUC higher than 0.8 and simulations showed an increase up to 20% in statistical power when using QS in comparison to other filtering strategies. Superior performance was confirmed also for alternative consensus CNV definition and through improving known CNV-trait associations. AVAILABILITY AND IMPLEMENTATION: http://goo.gl/T6yuFM CONTACT: zoltan.kutalik@unil.ch or aurelien@mace@unil.chSupplementary information: Supplementary data are available at Bioinformatics online.

Periarticular injections with continuous perfusion of local anaesthetics provide better pain relief and better function compared to femoral and sciatic blocks after TKA: a randomized clinical trial.

PURPOSE: Combined femoral and sciatic nerve blocks for post-operative pain management following total knee arthroplasty (TKA) improve patient satisfaction, decrease narcotic consumption and improve pain. However, accompanying motoric weakness can cause falls and related complications. We wonder whether peri-capsular injections in combination with intra-articular perfusion of local anaesthetics would result in equal or less pain without the related complications of nerve blocks. The objective of the study was to verify these aspects in a prospective randomized trial comparing both treatments. METHODS: Fifty TKA patients randomly received either a femoral (continuous) and a sciatic (single-shot) nerve block (CFNB group, 25 knees) or periarticular infiltrations and a continuous post-operative intra-articular infusion (PIAC group, 25 knees). VAS for pain, pain medication consumption, functional assessment, straight leg raising as well as KSS were recorded post-operatively for 6 days. RESULTS: VAS (p < 0.001) and KSS (p = 0.05) were significantly better for PIAC. There was increased pain following CFNB compared to PIAC. Catheters stayed for 4 days, a pain 'rebound' occurred after removing in CFNB but not after PIAC. There was no difference in regard to knee function (n.s.), but straight leg raising was significant better following PIAC. There were two falls in patients with CFNB. CONCLUSION: Peri-capsular injections combined with an intra-articular catheter provide better pain control, no rebound pain with better function and might decrease the risk of complications related to motor weakness. LEVEL OF EVIDENCE: I.

[Immunological Markers in Organ Transplantation]. / Marker der Immunantwort bei Organtransplantation.

The immunological monitoring in organ transplantation is based mainly on the determination of laboratory parameters as surrogate markers of organ dysfunction. Structural damage, caused by alloreactivity, can only be detected by invasive biopsy of the graft, which is why inevitably rejection episodes are diagnosed at a rather progressive stage. New non-invasive specific markers that enable transplant clinicians to identify rejection episodes at an earlier stage, on the molecular level, are needed. The accurate identification of rejection episodes and the establishment of operational tolerance permit early treatment or, respectively, a controlled cessation of immunosuppression. In addition, new prognostic biological markers are expected to allow a pre-transplant risk stratification thus having an impact on organ allocation and immunosuppressive regimen. New high-throughput screening methods allow simultaneous examination of hundreds of characteristics and the generation of specific biological signatures, which might give concrete information about acute rejection, chronic dysfunction as well as operational tolerance. Even though multiple studies and a variety of publications report about important advances on this subject, almost no new biological marker has been implemented in clinical practice as yet. Nevertheless, new technologies, in particular analysis of the genome, transcriptome, proteome and metabolome will make personalised transplantation medicine possible and will further improve the long-term results and graft survival rates. This article gives a survey of the limitations and possibilities of new immunological markers in organ transplantation.

16p11.2 Locus modulates response to satiety before the onset of obesity.

BACKGROUND: The 600 kb BP4-BP5 copy number variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. The number of genomic copies in this region is inversely correlated with body mass index (BMI): the deletion is associated with a highly penetrant form of obesity (present in 50% of carriers by the age of 7 years and in 70% of adults), and the duplication with being underweight. Mechanisms underlying this energy imbalance remain unknown. OBJECTIVE: This study aims to investigate eating behavior, cognitive traits and their relationships with BMI in carriers of 16p11.2 CNVs. METHODS: We assessed individuals carrying a 16p11.2 deletion or duplication and their intrafamilial controls using food-related behavior questionnaires and cognitive measures. We also compared these carriers with cohorts of individuals presenting with obesity, binge eating disorder or bulimia. RESULTS: Response to satiety is gene dosage-dependent in pediatric CNV carriers. Altered satiety response is present in young deletion carriers before the onset of obesity. It remains altered in adolescent carriers and correlates with obesity. Adult deletion carriers exhibit eating behavior similar to that seen in a cohort of obesity without eating disorders such as bulimia or binge eating. None of the cognitive measures are associated with eating behavior or BMI. CONCLUSIONS: These findings suggest that abnormal satiety response is a strong contributor to the energy imbalance in 16p11.2 CNV carriers, and, akin to other genetic forms of obesity, altered satiety responsiveness in children precedes the increase in BMI observed later in adolescence.