Prospect of Studying Nonperturbative QED with Beam-Beam Collisions.

We demonstrate the experimental feasibility of probing the fully nonperturbative regime of quantum electrodynamics with a 100 GeV-class particle collider. By using tightly compressed and focused electron beams, beamstrahlung radiation losses can be mitigated, allowing the particles to experience extreme electromagnetic fields. Three-dimensional particle-in-cell simulations confirm the viability of this approach. The experimental forefront envisaged has the potential to establish a novel research field and to stimulate the development of a new theoretical methodology for this yet unexplored regime of strong-field quantum electrodynamics.

Beam Energy and Centrality Dependence of Direct-Photon Emission from Ultrarelativistic Heavy-Ion Collisions.

The PHENIX collaboration presents first measurements of low-momentum (0.41 GeV/c) direct-photon yield dN_{γ}^{dir}/dη is a smooth function of dN_{ch}/dη and can be well described as proportional to (dN_{ch}/dη)^{α} with α≈1.25. This scaling behavior holds for a wide range of beam energies at the Relativistic Heavy Ion Collider and the Large Hadron Collider, for centrality selected samples, as well as for different A+A collision systems. At a given beam energy, the scaling also holds for high p_{T} (>5 GeV/c), but when results from different collision energies are compared, an additional sqrt[s_{NN}]-dependent multiplicative factor is needed to describe the integrated-direct-photon yield.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

BACKGROUND: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. OBJECTIVES: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

BACKGROUND: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise. OBJECTIVES: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations. METHODS: We performed a large 4-year, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and café-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11, respectively. Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. CONCLUSIONS: The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.

[Early satisfaction with care among outpatients with substance dependence]. / Satisfaction précoce vis-à-vis des soins ambulatoires chez des patients dépendants aux substances psychoactives.

BACKGROUND: Patient satisfaction with health care is an important indicator of health care quality. The main objective was to identify factors associated with early outpatient satisfaction with care 45 days after study inclusion for alcohol and opioid dependence. The secondary objective was to study the reproducibility of the satisfaction during the care. METHODS: A longitudinal study was conducted. Satisfaction was assessed during the early care process 15 and 45 days after study inclusion using the quality of care satisfaction questionnaire in outpatient consultation EQS-C. Multiple linear regression was performed to identify the variables associated with satisfaction level. The reproducibility of the questionnaire between the two measurements (15 and 45 days after inclusion) was tested by intraclass correlation coefficient. RESULTS: A total of 189 outpatients were included, and 90 patients completed the satisfaction questionnaire both at 15 and 45 days after inclusion. The level of early satisfaction with care was high. If patients without a history of previous care for substance dependence were at first more satisfied at 45 days (ß=6.8; P=0.05) than those who had received care previously, only the total score of the satisfaction with care at 15 days is associated with satisfaction with care at 45 days when taken into account in the model (ß=0,7; P<0.0001). The results indicated good total satisfaction reproducibility with an intraclass correlation coefficient ICC=0.68. CONCLUSION: We recommend an early measure of satisfaction with care among outpatients with substance dependence.

GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.

The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 × 10-8; rs191260602, P=3.9 × 10-8). We followed up on this finding in a larger dimensional ACQ sample (N=2547) and in independent samples with a dichotomous AG phenotype based on the Symptoms Checklist (SCL-90; N=3845) and a case-control sample with the categorical phenotype PD/AG (Ncombined =1012) obtaining highly significant P-values also for GLRB single-nucleotide variants rs17035816 (P=3.8 × 10-4) and rs7688285 (P=7.6 × 10-5). GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture. Analyses of intermediate PD/AG phenotypes demonstrated increased startle reflex and increased fear network, as well as general sensory activation by GLRB risk gene variants rs78726293, rs191260602, rs17035816 and rs7688285. Partial Glrb knockout mice demonstrated an agoraphobic phenotype. In conjunction with the clinical observation that rare coding GLRB gene mutations are associated with the neurological disorder hyperekplexia characterized by a generalized startle reaction and agoraphobic behavior, our data provide evidence that non-coding, although functional GLRB gene polymorphisms may predispose to PD by increasing startle response and agoraphobic cognitions.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.

Allelic variation in CRHR1 predisposes to panic disorder: evidence for biased fear processing.

Corticotropin-releasing hormone (CRH) is a major regulator of the hypothalamic-pituitary-adrenal axis. Binding to its receptor CRHR1 triggers the downstream release of the stress response-regulating hormone cortisol. Biochemical, behavioral and genetic studies revealed CRHR1 as a possible candidate gene for mood and anxiety disorders. Here we aimed to evaluate CRHR1 as a risk factor for panic disorder (PD). Allelic variation of CRHR1 was captured by 9 single-nucleotide polymorphisms (SNPs), which were genotyped in 531 matched case/control pairs. Four SNPs were found to be associated with PD, in at least one sub-sample. The minor allele of rs17689918 was found to significantly increase risk for PD in females after Bonferroni correction and furthermore decreased CRHR1 mRNA expression in human forebrains and amygdalae. When investigating neural correlates underlying this association in patients with PD using functional magnetic resonance imaging, risk allele carriers of rs17689918 showed aberrant differential conditioning predominantly in the bilateral prefrontal cortex and safety signal processing in the amygdalae, arguing for predominant generalization of fear and hence anxious apprehension. Additionally, the risk allele of rs17689918 led to less flight behavior during fear-provoking situations but rather increased anxious apprehension and went along with increased anxiety sensitivity. Thus reduced gene expression driven by CRHR1 risk allele leads to a phenotype characterized by fear sensitization and hence sustained fear. These results strengthen the role of CRHR1 in PD and clarify the mechanisms by which genetic variation in CRHR1 is linked to this disorder.

Pyridostigmine bromide versus fludrocortisone in the treatment of orthostatic hypotension in Parkinson's disease - a randomized controlled trial.

BACKGROUND AND PURPOSE: Evidence for effective treatment options for orthostatic hypotension (OH) in Parkinson's disease (PD) is scarce. Elevation of cholinergic tone with pyridostigmine bromide has been reported as a way to improve blood pressure (bp) regulation in neurogenic hypotension without causing supine hypertension. METHODS: This was a double-centre, double-blind, randomized, active-control, crossover, phase II non-inferiority trial of pyridostigmine bromide for OH in PD (clinicaltrials.gov NCT01993680). Patients with confirmed OH were randomized to 14 days 3 × 60 mg/day pyridostigmine bromide or 1 × 0.2 mg/day fludrocortisone before crossover. Outcome was measured by peripheral and central bp monitoring during the Schellong manoeuvre and questionnaires. RESULTS: Thirteen participants were enrolled between April 2013 and April 2015 with nine participants completing each trial arm. Repeated measures comparison showed a significant 37% improvement with fludrocortisone for the primary outcome diastolic bp drop on orthostatic challenge (baseline 22.9 ± 13.6 vs. pyridostigmine bromide 22.1 ± 17.0 vs. fludrocortisone 14.0 ± 12.6 mmHg; P = 0.04), whilst pyridostigmine bromide had no effect. Fludrocortisone caused an 11% peripheral systolic supine bp rise (baseline 128.4 ± 12.8 vs. pyridostigmine bromide 130.4 ± 18.3 vs. fludrocortisone 143.2 ± 10.1 mmHg; P = 0.01) but no central mean arterial supine bp rise (baseline 107.2 ± 7.8 vs. pyridostigmine bromide 97.0 ± 12.0 vs. fludrocortisone 107.3 ± 6.3 mmHg; P = 0.047). Subjective OH severity, motor score and quality of life remained unchanged by both study interventions. CONCLUSIONS: Pyridostigmine bromide is inferior to fludrocortisone in the treatment of OH in PD. This trial provides first objective evidence of the efficacy of 0.2 mg/day fludrocortisone for OH in PD, causing minor peripheral but no central supine hypertension. In addition to peripheral bp, future trials should include central bp measurements, known to correlate more closely with cardiovascular risk.

"Watchful observation" follow-up scheme after endoscopic CO2 laser treatment for small glottic carcinomas: A retrospective study of 93 cases.

OBJECTIVES: Evaluate the clinical outcome of patients treated with CO2 laser surgery for early-stage glottic carcinomas followed up with 3-month laryngoscopy regardless of tumor grade and margins. DESIGN: Case series. SETTING: Retrospective review of the clinical records of patients treated at the ENT department of a tertiary university hospital. PARTICIPANTS AND METHOD: Clinical records from patients with early-stage glottic carcinomas (Tis/T2) treated with curative intent by CO2 laser surgery in a ten-year period were evaluated. Regardless of tumor margin status, patients underwent fiber endoscopy 6 weeks after surgery and a systematic second look by direct laryngoscopy under general anesthesia at 3 months. MAIN OUTCOME MEASURES: Local control, laryngeal preservation rate. RESULTS: Ninety-three patients were included. Disease control was obtained in 90/93 cases. Laryngeal preservation rate was 96.8%. Twenty patients had a local residual disease or recurrence after the first laser surgery, but 17 were salvaged (85%). Local residual disease and recurrence were more frequent in patients with advanced disease (T1b/T2), invasion of anterior commissure and "non-safe" margins. CONCLUSION: The proposed follow-up scheme might be a valuable option, but with caution for positive or unevaluable margins as the latter is an independent risk factor for local recurrence. An early laser excision procedure (eg, within the first two months after surgery) or an alternative strategy may be discussed in this situation. "Watchful observation" should be reserved for compliant patients only so that the risk of missing potential recurrences is minimised.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.

Centrality-Dependent Modification of Jet-Production Rates in Deuteron-Gold Collisions at √[s(NN)]=200 GeV.

Jet production rates are measured in p+p and d+Au collisions at sqrt[s_{NN}]=200 GeV recorded in 2008 with the PHENIX detector at the Relativistic Heavy Ion Collider. Jets are reconstructed using the R=0.3 anti-k_{t} algorithm from energy deposits in the electromagnetic calorimeter and charged tracks in multiwire proportional chambers, and the jet transverse momentum (p_{T}) spectra are corrected for the detector response. Spectra are reported for jets with 12

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Measurements of Elliptic and Triangular Flow in High-Multiplicity 3He+Au Collisions at √(s(NN))=200 GeV.

We present the first measurement of elliptic (v(2)) and triangular (v(3)) flow in high-multiplicity (3)He+Au collisions at √(s(NN))=200 GeV. Two-particle correlations, where the particles have a large separation in pseudorapidity, are compared in (3)He+Au and in p+p collisions and indicate that collective effects dominate the second and third Fourier components for the correlations observed in the (3)He+Au system. The collective behavior is quantified in terms of elliptic v(2) and triangular v(3) anisotropy coefficients measured with respect to their corresponding event planes. The v(2) values are comparable to those previously measured in d+Au collisions at the same nucleon-nucleon center-of-mass energy. Comparisons with various theoretical predictions are made, including to models where the hot spots created by the impact of the three (3)He nucleons on the Au nucleus expand hydrodynamically to generate the triangular flow. The agreement of these models with data may indicate the formation of low-viscosity quark-gluon plasma even in these small collision systems.

Measurement of Long-Range Angular Correlation and Quadrupole Anisotropy of Pions and (Anti)Protons in Central d+Au Collisions at sqrt[s_{NN}]=200 GeV.

We present azimuthal angular correlations between charged hadrons and energy deposited in calorimeter towers in central d+Au and minimum bias p+p collisions at sqrt[s_{NN}]=200 GeV. The charged hadron is measured at midrapidity |η|<0.35, and the energy is measured at large rapidity (-3.7<η<-3.1, Au-going direction). An enhanced near-side angular correlation across |Δη|>2.75 is observed in d+Au collisions. Using the event plane method applied to the Au-going energy distribution, we extract the anisotropy strength v_{2} for inclusive charged hadrons at midrapidity up to p_{T}=4.5 GeV/c. We also present the measurement of v_{2} for identified π^{±} and (anti)protons in central d+Au collisions, and observe a mass-ordering pattern similar to that seen in heavy-ion collisions. These results are compared with viscous hydrodynamic calculations and measurements from p+Pb at sqrt[s_{NN}]=5.02 TeV. The magnitude of the mass ordering in d+Au is found to be smaller than that in p+Pb collisions, which may indicate smaller radial flow in lower energy d+Au collisions.

Impulse control disorders in Parkinson's disease: don't set your mind at rest by self-assessments.

BACKGROUND AND PURPOSE: Impulse control disorders (ICDs) and related conditions in Parkinson's disease (PD) patients are frequent, disabling and sometimes devastating neuropsychiatric behaviors. Current knowledge on the prevalence of ICDs in PD is mainly based on assessments with questionnaires or patient interviews. This study was designed to evaluate the reliability of self-assessed ICDs and related conditions in PD by exploring the agreement between self-assessment of ICDs and related conditions in PD patients on the one hand and the estimation of their caregivers on the other hand. METHODS: After a short validation study of a novel ICD screening questionnaire, a cross-sectional study in 150 PD patients was performed. All patients filled out the self-assessment version of a screening questionnaire for ICDs, and caregivers completed an adapted version (n = 64). RESULTS: When comparing self-assessments of PD patients and ratings by their caregivers, significant differences with regard to the estimated prevalence of hypersexuality (55% vs. 17%), dopamine dysregulation syndrome (31% vs. 3%) and punding (22% vs. 9%) were found. CONCLUSIONS: Patients underestimate the presence and severity of some ICDs and related conditions, which shows how important assessments with caregivers are. After all, ICDs are probably much more frequent in PD than previously reported.

The value of dynamic magnetic resonance imaging in interdisciplinary treatment of pelvic floor dysfunction.

PURPOSE: The purpose of this study was to determine the value of dynamic pelvic floor MRI relative to standard clinical examinations in treatment decisions made by an interdisciplinary team of specialists in a center for pelvic floor dysfunction. METHODS: 60 women were referred for dynamic pelvic floor MRI by an interdisciplinary team of specialists of a pelvic floor center. All patients were clinically examined by an urologist, gynecologist, a proctological, and colorectal surgeon. The specialists assessed individually and in consensus, whether (1) MRI provides important additional information not evident by physical examination and in consensus whether (2) MRI influenced the treatment strategy and/or (3) changed management or the surgical procedure. RESULTS: MRI was rated essential to the treatment decision in 22/50 cases, leading to a treatment change in 13 cases. In 12 cases, an enterocele was diagnosed by MRI but was not detected on physical exam. In 4 cases an enterocele and in 2 cases a rectocele were suspected clinically but not confirmed by MRI. In 4 cases, MRI proved critical in assessment of rectocele size. Vaginal intussusception detected on MRI was likewise missed by gynecologic exam in 1 case. CONCLUSION: MRI allows diagnosis of clinically occult enteroceles, by comprehensively evaluating the interaction between the pelvic floor and viscera. In nearly half of cases, MRI changed management or the surgical approach relative to the clinical evaluation of an interdisciplinary team. Thus, dynamic pelvic floor MRI represents an essential component of the evaluation for pelvic floor disorders.

[Correlation between specific and nonspecific posttraumatic stress disorder symptoms with healthcare consumption among 340 French soldiers]. / État de stress post-traumatique et consommation de soins sur l'année écoulée: étude menée auprès de 340 militaires français de cinq unités combattantes de l'armée de terre.

BACKGROUND: The psychotraumatic disorders are often difficult to diagnose because the specific symptoms of posttraumatic stress disorder (revival, hyperarousal, avoidance) are rarely a direct demand for health care: for reasons determined by the psychopathological structure of trauma, its symptomatology and course, the psychotraumatised subjects seek a care system for nonspecific psychological or somatoform symptoms: depressive episode, cognitive disorders, other anxiety disorders, histrionic and obsessive symptoms, changes in personality, pain disorders and somatization. Somatic pain may also result from a war injury and psychosomatic complications, addictive or consequences of risk behaviours during the evolution of posttraumatic stress disorder. OBJECTIVES: To establish a correlation between the PCLS and the evaluation of the healthcare consumption in a military population. METHODS: We conducted a multicenter epidemiological study analyzing the PCLS and a questionnaire assessing health care consumption. The PCLS has been studied in various forms: quantitative (17 to 85), in qualitative classes (<33, 33 to 43 and ≥44), and in five sub-dimensions (flashbacks, avoidance, dissociation, depression and hyperactivity). The sub-dimension revival was then studied item by item. The criteria used care consumption over the last twelve months is the numbers of days of sick leave, days of unavailability (of certain jobs or military activities) and consultations. RESULTS: Our population of 340 subjects cannot be considered representative of the French military population even if only a few characteristics differ. Sixteen of 340 subjects show a positive PCLS is 4.70% of our sample. PCLS average of 23 (±9.4) with a median of 19 objectifying much of PCLS have almost zero score. Validating our main hypothesis, we found a statistically significant relationship between elements of the PCLS and variables care consumption: this link exists mainly between the score, classes and sub-dimensions of the PCLS in one hand and number of days of sick leave and unavailability on the other hand. DISCUSSION: Towards a strategy for tracking psychotraumatic disorders, could be developed a score of health care consumption which would include the number of days of sick leave and unavailability, the number and quality of medical consultations, the number and quality of drug and laboratory requirements, the number of hospitalisations. To the identification of posttraumatic stress disorder, the PCLS score as well as the consumer healthcare score are valuable tools but do not replace the subjectivity of the clinical relationship: return to this shared subjectivity with the practitioner remains a diagnostic dimension, but also therapeutic, fundamental.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.

Cold-nuclear-matter effects on heavy-quark production at forward and backward rapidity in d + Au collisions at √sNN = 200 GeV.

The PHENIX experiment has measured open heavy-flavor production via semileptonic decay over the transverse momentum range 1 < p(T) < 6 GeV/c at forward and backward rapidity (1.4 < |y| < 2.0) in d+Au and p + p collisions at √sNN = 200 GeV. In central d+Au collisions, relative to the yield in p + p collisions scaled by the number of binary nucleon-nucleon collisions, a suppression is observed at forward rapidity (in the d-going direction) and an enhancement at backward rapidity (in the Au-going direction). Predictions using nuclear-modified-parton-distribution functions, even with additional nuclear-p(T) broadening, cannot simultaneously reproduce the data at both rapidity ranges, which implies that these models are incomplete and suggests the possible importance of final-state interactions in the asymmetric d + Au collision system. These results can be used to probe cold-nuclear-matter effects, which may significantly affect heavy-quark production, in addition to helping constrain the magnitude of charmonia-breakup effects in nuclear matter.