Perioperative Care for Children With Syndromic Craniofacial Synostosis Undergoing Le Fort III Surgery: A Retrospective Cohort Study.

OBJECTIVE: To present characteristics, surgical variables, complications, and postoperative care in pediatric patients with craniofacial synostosis undergoing Le Fort III osteotomy. BACKGROUND: Craniofacial synostoses are a group of genetic syndromes that result in premature fusion of cranial and facial sutures, leading to craniofacial deformities and associated complications. Midface advancement through Le Fort III osteotomy is the most frequent surgical option for these conditions. METHODS: Retrospective monocentric cohort study including patients with syndromic craniofacial synostosis who underwent Le Fort III osteotomy between 2009 and 2022 in a specialized referral center. Data collection encompassed surgical time, blood loss, intraoperative transfusions, fluid balance, and postoperative parameters such as duration of invasive mechanical ventilation and intensive care unit (ICU) length of stay. RESULTS: Twenty-six children were included in the analysis. The median surgical time was 345 minutes (300-360), with an estimated blood loss of 15 (9.9-24) mL/kg. Patients required a median transfusion of 12.63 (7.1-24.5) mL/kg of packed red blood cells and 19.82 (11.1-33) mL/kg of fresh frozen plasma. Intraoperative fluid balance was + 12.5 (0.8-22.8) mL/kg, with a median infusion of 30.4 (23.9-38.7) mL/kg of crystalloids. All patients were transferred to the ICU after surgery to ensure a safe environment for extubation. The median duration of mechanical ventilation in the ICU was 30 (20.25-45) hours, and postoperative ICU length of stay was 2 (2-4) days, and complications were infrequent, with only one extubation failure recorded. CONCLUSION: Le Fort III osteotomy in craniofacial synostosis patients may be characterized by a complex perioperative course. A multidisciplinary approach in the care of these patients allows for minimizing complications in the perioperative phase. Further research is needed to enhance perioperative management in this unique patient population.

The current paradigm of cardiac troponin increase among athletes.

Although it is known that exercise improves cardiovascular health and extends life expectancy, a significant number of people may also experience an elevation in cardiac troponin levels as a result of exercise. For many years, researchers have argued whether exercise-induced cardiac troponin rises are a consequence of a physiological or pathological reaction and whether they are clinically significant. Differences in cardiac troponin elevation and cardiac remodeling can be seen between athletes participating in different types of sports. When forecasting the exercise-induced cardiac troponin rise, there are many additional parameters to consider, as there is a large amount of interindividual heterogeneity in the degree of cardiac troponin elevation. Although it was previously believed that cardiac troponin increases in athletes represented a benign phenomenon, numerous recent studies disproved this notion by demonstrating that, in specific individuals, cardiac troponin increases may have clinical and prognostic repercussions. This review aims to examine the role of cardiac troponin in athletes and its role in various sporting contexts. This review also discusses potential prognostic and clinical implications, as well as future research methods, and provides a straightforward step-by-step algorithm to help clinicians interpret cardiac troponin rise in athletes in both ischemic and non-ischemic circumstances.

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams-Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with p > .1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams-Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients.

Exploring the prevalence and clinical impact of fibromyalgia syndrome in patients with shoulder diseases: a cross-sectional study.

OBJECTIVES: Fibromyalgia (FM) is a musculoskeletal syndrome characterised by widespread chronic pain often associated with systemic manifestations such as mood disturbances, persistent fatigue, unrefreshed sleep, and cognitive impairment, substantially impacting patients' health-related quality of life. Based on this background, this study aimed to evaluate the prevalence of FM syndrome in patients referring to an outpatient clinic in a central orthopaedic institute for a painful shoulder. The demographic and clinical characteristics of patients fulfilling the criteria for FM syndrome were also correlated with the severity of symptoms. METHODS: Consecutive adult patients referring to the shoulder orthopaedic outpatient clinic of the ASST Gaetano Pini-CTO, Milan, Italy, to undergo a clinical evaluation were assessed for eligibility in an observational, cross-sectional, monocentric study. RESULTS: Two hundred-one patients were enrolled: 103 males (51.2%) and 98 females (48.8%). The mean age ± standard deviation (SD) of the patients was 55.3 ± 14.3 years in the whole population. Of all the patients, 12 (5.97%) fulfilled the 2016 FM syndrome criteria based on the FM severity scale (FSS). Of these, 11 were females (91.7%, p=0.002). The mean age (SD) was 61.3 (10.8) in the positive criteria sample. Patients with positive criteria had a mean FIQR of 57.3 ± 16.8 (range 21.6-81.5). CONCLUSIONS: We found that FM syndrome is more frequent than expected in a cohort of patients referring to a shoulder orthopaedic outpatient clinic, with a prevalence rate (6%) more than double that of the general population (2%).

The MMAAS Project: An Observational Human Study Investigating the Effect of Anabolic Androgenic Steroid Use on Gene Expression and the Molecular Mechanism of Muscle Memory.

OBJECTIVE: It remains unknown whether myonuclei remain elevated post anabolic-androgenic steroid (AAS) usage in humans. Limited data exist on AAS-induced changes in gene expression. DESIGN: Cross-sectional/longitudinal. SETTING: University. PARTICIPANTS: Fifty-six men aged 20 to 42 years. INDEPENDENT VARIABLES: Non-resistance-trained (C) or resistance-trained (RT), RT currently using AAS (RT-AS), of which if AAS usage ceased for ≥18 weeks resampled as Returning Participants (RP) or RT previously using AAS (PREV). MAIN OUTCOME MEASURES: Myonuclei per fiber and cross-sectional area (CSA) of trapezius muscle fibers. RESULTS: There were no significant differences between C (n = 5), RT (n = 15), RT-AS (n = 17), and PREV (n = 6) for myonuclei per fiber. Three of 5 returning participants (RP1-3) were biopsied twice. Before visit 1, RP1 ceased AAS usage 34 weeks before, RP2 and RP3 ceased AAS usage ≤2 weeks before, and all had 28 weeks between visits. Fiber CSA decreased for RP1 and RP2 between visits (7566 vs 6629 µm 2 ; 7854 vs 5677 µm 2 ) while myonuclei per fiber remained similar (3.5 vs 3.4; 2.5 vs 2.6). Respectively, these values increased for RP3 between visits (7167 vs 7889 µm 2 ; 2.6 vs 3.3). CONCLUSIONS: This cohort of past AAS users did not have elevated myonuclei per fiber values, unlike previous research, but reported AAS usage was much lower. Training and AAS usage history also varied widely among participants. Comparable myonuclei per fiber numbers despite decrements in fiber CSA postexposure adheres with the muscle memory mechanism, but there is variation in usage relative to sampling date and low numbers of returning participants.

Clinical Concerns on Sex Steroids Variability in Cisgender and Transgender Women Athletes.

In the female athletic community, there are several endogenous and exogenous variables that influence the status of the hypothalamus-pituitary-ovarian axis and serum sex steroid hormones concentrations (e. g., 17ß-estradiol, progesterone, androgens) and their effects. Moreover, female athletes with different sex chromosome abnormalities exist (e. g., 46XX, 46XY, and mosaicism). Due to the high variability of sex steroid hormones serum concentrations and responsiveness, female athletes may have different intra- and inter-individual biological and functional characteristics, health conditions, and sports-related health risks that can influence sports performance and eligibility. Consequently, biological, functional, and/or sex steroid differences may exist in the same and in between 46XX female athletes (e. g., ovarian rhythms, treated or untreated hypogonadism and hyperandrogenism), between 46XX and 46XY female athletes (e. g., treated or untreated hyperandrogenism/disorders of sexual differentiation), and between transgender women and eugonadal cisgender athletes. From a healthcare perspective, dedicated physicians need awareness, knowledge, and an understanding of sex steroid hormones' variability and related health concerns in female athletes to support physiologically healthy, safe, fair, and inclusive sports participation. In this narrative overview, we focus on the main clinical relationships between hypothalamus-pituitary-ovarian axis function, endogenous sex steroids and health status, health risks, and sports performance in the heterogeneous female athletic community.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath.

Low grade of osteoarthritis development after Latarjet procedure with a minimum 5 years of follow-up: a systematic review and pooled analysis.

PURPOSE: The purpose of this systematic review and pooled analysis was to evaluate incidence and risk factors for glenohumeral osteoarthritis (OA) in patients who underwent Latarjet procedure with a minimum of 5-year follow-up. METHODS: The PRISMA guidelines were followed to perform this systematic review. PubMed and EMBASE were searched up to February 29, 2020 for English, human in vivo studies that evaluated glenohumeral OA in patients undergoing Latarjet procedure at least 5 years after surgery. A pooled analysis on the included databases sent by authors was performed to evaluate the risk factors influencing the development or progression of dislocation arthropathy after the Latarjet procedure. RESULTS: Four studies, including a total of 280 patients (213 males and 67 females), were analysed. In our study population, the median age at surgery was 25.0 years (range 20.8-32.6 years). and 92.1% were athletes. In 90% of the cases, the number of dislocations before surgery were fewer than 5. The recurrence of instability after Latarjet procedure was observed only in seven patients (2.5%). The position of the bone graft resulted flush to the anterior glenoid rim in 238 cases (85.3%), medial in 8 (2.9%) and overhanging in 33 (11.8%). Radiological signs of development or progression of shoulder OA were observed in 25.8% of the patients, of which 88.6% presented a grade 1 of OA according to Samilson and Prieto classification. The overhanging position of the bone graft resulted statistically significant for onset or worsening of OA. The age at surgery, the number of dislocations before surgery and the Hill-Sachs lesion were not significantly associated with joint degeneration. Instead, hyperlaxity showed a prevention role in the development of OA after open Latarjet procedure. CONCLUSION: The Latarjet procedure is a valid and safe surgical treatment in recurrent anterior shoulder instability with a low risk of developing moderate or severe OA also at long-term follow-up. The overhanging position of the bone graft represents the principal risk factor of joint degeneration, whereas the hyperlaxity seems to be protective. Finally, age, gender, time between first dislocation and surgery, and number of dislocations do not seem to affect the onset of OA after Latarjet procedure. Therefore, an accurate execution of the Latarjet procedure can be considered a valid treatment even in young and athletes thanks to the low recurrence rates and the low development of major long-term complications. LEVEL OF EVIDENCE: IV.

The role of physical activity as conservative treatment for massive rotator cuff tears in elderly patients: a systematic review.

The aim of this systematic review is to determine the effectiveness on functional and pain outcomes of different exercise protocols as a conservative treatment for massive, irreparable rotator cuff tears in elderly patients. A literature search was carried out consulting Pubmed -Medline, Cochrane central and Scopus to select randomized clinical trials, prospective and retrospective cohort studies or case series, that evaluated functional and pain outcomes after physical therapy in patients aged 65 or over, affected by massive rotator cuff tears. The present systematic review followed the Cochrane methodology for systematic reviews and the reporting was implemented using through the PRISMA guidelines. The Cochrane risk of bias tool and MINOR score were used for methodologic assessment. Nine articles were included. Data concerning physical activity, functional outcomes and pain assessment were obtained from the included studies. The exercise protocols assessed within the included studies were extremely wide with equally different methods of evaluation of the outcomes. However, most of the studies demonstrated a trend of improvement after the treatment, in terms of functional scores, pain, ROM and quality of life. An intermediate methodological quality of the included papers was assessed through the risk of bias evaluation. Our results showed a positive trend in patients who underwent physical exercise therapy. Our conclusion is that further studies of a high level of evidence are needed to achieve consistent evidence to improve clinical practice in the future.

Arthroscopic rotator cuff repair in patients over 70 years of age: a systematic review.

BACKGROUND: Failure of conservative treatment in patients over 70 years of age with a rotator cuff tear makes surgery a possible option, considering the increase in life expectancy and the high functional demands of elderly patients. The purpose of this systematic review of the literature was to evaluate the subjective and objective outcomes after arthroscopic rotator cuff repair in patients over 70 years of age. METHODS: A systematic review was performed to identify all the studies reporting subjective and objective outcomes in patients aged 70 years or older undergoing arthroscopic rotator cuff repair. Constant Murley Score (CMS), visual analog scale (VAS), American Shoulder and Elbow Surgeons Score (ASES), and Simple Shoulder Test (SST) were used to detect any clinical improvement after surgery. Retear and satisfaction were also analyzed. RESULTS: Out of 941 studies identified, only 6 papers have been included in the review. All studies reported improvements in postoperative functional outcome scores that exceed the minimal clinically relevant difference. The mean retear rate amounts to 21.9%, which is in line with the failure rate of rotator cuff repair in general population. Moreover, postoperative satisfaction is very high (95%). CONCLUSION: This systematic review suggests that arthroscopic rotator cuff repair in patients over 70 years of age could be a valid treatment option after failure of conservative approach. LEVEL OF EVIDENCE: 4 Trial registration The study was registered on PROSPERO (registration ID: CRD42018088613).

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype description of CdLSp patients with severe GERD who underwent surgical treatment. We retrospectively collected data from 23 CdLSp patients, 13 females and 10 males. Mean age of the patients undergoing surgical treatment was of 4 years. 21/23 (91%) had a molecular characterization, of which 21/21 (100%) had a NIPBL gene mutation, while 2/23 (9%) did not have a genetical characterization, only a clinical diagnosis. Most of our patients presented a moderate-severe severity score (21/23, 91%) with limb malformations evidenced in 10/23 (44%) of our patients and a moderate-severe intellectual disability in 20/23 (87%). Therefore, CdLSp patients harboring NIPBL variants, upper limb malformations and severe psychomotor delay are more likely to suffer from severe GERD, not responsive to proton pump inhibitors treatment. These features should be considered as clinical markers for potentially severe GERD that might require surgical treatment.

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.

Cornelia de Lange syndrome Spectrum (CdLSp) is characterized by intellectual disability, facial dysmorphisms, and growth impairment. Although eating difficulties are a well-known feature of the disease, there is no data regarding the nutritional deficiencies of these patients. The food intake was tracked using a dietary transcription provided by the family/caregivers, biochemical nutritional parameters were measured with laboratory tests and through an accurate clinical evaluation of the incidence of qualitative and quantitative imbalances in a cohort of 73 patients with CdLSp ware determined. Of these 73, 62 (85%) subjects provided a complete and detailed dietary transcription. In the studied population, a quantitative caloric imbalance in 47/62 (76%) subjects was observed. The caloric intake was low in 27/62 (43%) subjects whereas excessive in 20/62 (33%). Only 15/62 (24%) had an optimum caloric intake. Regarding micronutrients, a calcium intake deficiency in 32% of the patients (20/62) was observed. Blood tests revealed a low iron level in 22/73 (30%) of the patients and 25(OH)D deficiency in 49/73 (67%). Serum hypocalcemia was not evidenced. Qualitative and quantitative imbalances resulted in more frequent than expected in CdLSp patients. A qualitative imbalance was more prevalent in younger patients while in older patients prevailed mainly a quantitative disproportion. We found no statistically meaningful correlation between dietary imbalances, genetic, or clinical parameters. Our findings highlight the need for further studies to evaluate the basal metabolic rate of CdLSp patients and find a correlation with their growth impairment.

Clinical and pharmacokinetics equivalence of multiple doses of levodopa benserazide generic formulation vs the originator (Madopar).

AIMS: While several generic preparations of levodopa/carbidopa and levodopa/benserazide (LBD) are currently available, pharmacokinetic (PK) equivalence and therapeutic equivalence studies with levodopa generics are not available in Italy. Lack of data on generic formulations is a critical factor for their limited use in this country and often lead patients to refuse the generic version of the branded drug. METHODS: An experimental, 2-centre, randomized, double-blind, 2-sequence, noninferiority cross-over study was designed to evaluate both the PK equivalence and clinical equivalence of multiple doses of the generic preparation of LDB, Teva Italia, compared to the originator (Madopar). Forty-three out-patients with a diagnosis of idiopathic Parkinson's disease on LDB, were recruited and randomly assigned to 1 of 2 study sequences: generic-originator or originator-generic. Clinical evaluations were performed at the end of each study period. A PK study with an LDB fixed dose (100 + 25 mg) was performed in a subpopulation of 14 subjects. RESULTS: Clinical data showed a reduction of 0.49 and 1.54 in the mean UPDRS III scores for the LDB and the originator, respectively. The 95% CIs [-2.21: 0.11] of the mean difference original vs LDB are smaller than the clinically significant difference of 3 UPDRS III points, supporting the conclusion that the treatment with LDB is not inferior to the originator. No statistically significant differences were found with respect to area under the curve to last dose, half-life, maximum concentration, time to maximum concentration and last observed concentration. CONCLUSION: These findings prove the therapeutic clinical equivalence as well the PK equivalence of the generic LDB and the originator (Madopar).

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well-known feature, no specific data have been published about the use of nutritional devices. We analyzed use, type, time of introduction, and duration of nutritional devices in 73 CdLS patients. In total, 29/73 (40%) used a device; nasogastric tube (NGT) in 28/73 (38%) and percutaneous endoscopic gastrostomy (PEG) in 7/73 (10%). NGT was placed during the first days/weeks of life. 19/28 (68%) maintained it for less than 3 months, 7/28 (25%) for a period between 3 and 12 months, while 2/28 (7%) for more than 1 year. PEG was placed within the first year in 4/7 (57%) and removed in two patients after 4 years These data have been matched with a wide number of genetic and clinical variables. Presence of upper limb malformations is positively correlated with the need of a device. From the opposite side, the use of a device positively correlates with a more severe prognosis as regard growth, intellectual development and disease severity. Our data show that nutritional devices are frequently used by CdLS patients, also if the majority of them (93.1%) succeed with time in achieving a normal oral nutrition. Finally, the need, the type of device used and the duration of NGT or/plus PEG can be considered a further sign of worse prognosis of the disease itself.

The use of platelet-rich plasma (PRP) in the treatment of gastrocnemius strains: a retrospective observational study.

The aim of the present retrospective observational study was to evaluate the time of functional recovery following a specific combined therapeutic approach characterized by an active exercise therapy carried out immediately after Platelet-rich plasma (PRP) injections for the treatment of the muscular lesion of the distal musculotendinous junction of the gastrocnemius medial head.Medical records of 31 subjects treated with three PRP intra-lesional ultrasound guided injections and 30 patients treated with the standard therapeutic approach (control group) were analyzed. Both groups followed the same rehabilitation therapy. Patients in the control group were able to start active exercise with a significant delay when compared to the PRP treated subjects: 17 ± 7.2 days and 9 ± 3.8 days (p = 0.0001), respectively. This delay was mainly due to the persistence of pain in the subjects in the control group. The time necessary to return to walk without pain was significantly shorter in the PRP treated group: 24.27 ± 12.36 days versus 52.4 ± 20.03 days in the control group (p < 0.001) as well as the time needed to fully return to practice the previous sport activity: 53.33 ± 27.74 days versus 119.3 ± 43.87 days in the control group (p < 0.001).The present study showed that ultrasound guided delivery of PRP into the site of muscle injury has to be considered a valid therapeutic approach with the potentiality of significantly reduce time and costs for reaching a complete functional recovery.

Significant differences between manufacturer and surgeon in the accuracy of final component size prediction with CT-based patient-specific instrumentation for total knee arthroplasty.

PURPOSE: Patient-specific instrumentation (PSI) for total knee arthroplasty (TKA) may improve component sizing. Little has been reported about accuracy of the default plan created by the manufacturer, especially for CT-based PSI. The goal of this study was to evaluate the reliability of this plan and the impact of the surgeon's changes on the final accuracy of the guide sizes. METHODS: Forty-five patients eligible for primary TKA were prospectively enrolled. The planned implant sizes were prospectively recorded from the initial manufacturer's proposal and from the final plan adjusted in light of the surgeon's evaluation; these two sizes where then compared to the actually implanted sizes. Fisher's exact test was used to test differences for categorical variables. Agreement between pre-operative plans and final implant was evaluated with the Bland-Altman method. RESULTS: The manufacturer's proposal differed from the final implant in 9 (20.0%) femoral and 23 (51.1%) tibial components, while the surgeon's plan in 6 (13.3%, femoral) and 12 (26.7%, tibial). Modifications in the pre-operative plan were carried out for five (11.1%) femoral and 23 (51.1%) tibial components (p = 0.03). Appropriate modification occurred in 22 (88.0%) and 19 (76.0%) cases of femoral and tibial changes. The agreement between the manufacturer's and the surgeon's pre-operative plans was poor, especially with regard to tibial components. CONCLUSION: The surgeon's accuracy in predicting the final component size was significantly different from that of the manufacturer and changes in the initial manufacturer's plan were necessary to get an accurate pre-operative plan of the implant sizes. CLINICAL RELEVANCE: Careful evaluation of the initial manufacturer's plan by an experienced knee surgeon is mandatory when planning TKA with CT-based PSI. LEVEL OF EVIDENCE: II.

The Effect of Exercise Training on Autonomic Cardiovascular Regulation: From Cardiac Patients to Athletes.

Exercise training is increasingly promoted for physical and mental health and represents a major factor in both primary and secondary prevention of cardiovascular (CV) diseases. The beneficial effects of exercise, in part, can be ascribed to adaptations of neural CV regulation through several mechanisms. In this article, we summarize how exercise training affects neural CV regulation and outline the plasticity of neural network in the continuum from cardiac patients to elite athletes.

Sleep disorders in Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.

Behavioral profile in RASopathies.

Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire version lifetime (SCQ-L), and Modified Checklist for Autism in toddlers (M-CHAT). Data analysis indicated high rates of internalizing (37%) and externalizing problems (31%) on CBCL. Scores over the cut-off were documented in 64% of patients with cardiofaciocutaneous syndrome, 44% with Costello syndrome, and 12% with Noonan syndrome on SCQ-L/M-CHAT. Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies.

70° frontal visualization of lateral compartment of the elbow allows extensor carpi radialis brevis tendon release with preservation of the radial lateral collateral ligament.

PURPOSE: To determine whether the radial component of the lateral collateral ligament (R-LCL) and extensor carpi radialis brevis (ECRB) are consistently visible, using a 70° arthroscope, as parallel structures in the extra-articular space of the elbow, and to evaluate the clinical outcomes of these techniques in a series of patients. METHODS: An arthroscopic ECRB tendon release was performed between 2008 and 2010. Eighteen patients were retrospectively evaluated at a minimum of 24 months' follow-up. The surgeon performed the ECRB release while protecting the R-LCL and viewing the structures extra-articularly with a 70° arthroscope through the anteromedial portal. Patients underwent surgery if they presented with localized tenderness and pain not responding to conservative treatment for 12 months and had magnetic resonance imaging scans indicating tendinopathy or degeneration. Arthritis, posterolateral rotatory instability, trauma, and previous surgeries were exclusion criteria. Intraoperative videos were reviewed and a clinical examination was performed by an independent reviewer at 24 months postoperatively. Patients were also evaluated with the Mayo Elbow Performance Score; Andrews-Carson score; and shortened Disabilities of the Arm, Shoulder and Hand questionnaire. Direct varus stress was applied in extension and flexion (40°), and the posterolateral pivot-shift and chair tests were performed. RESULTS: Visualization with the 70° arthroscope through the anteromedial portal was successful in all of the cases (100%). Visualization of the residual ECRB tendon stump, as well as the posterior common extensor tendon, was also achieved 94% of the time. The final mean Mayo Elbow Performance Score and Andrews-Carson score were 82.5 (range, 60 to 100) and 185.3 (range, 125 to 200), respectively. The mean postoperative score on the shortened Disabilities of the Arm, Shoulder and Hand questionnaire was 20.14 (range, 5 to 57.5). Clinical tests showed stability in all the cases. CONCLUSIONS: The 70° arthroscope allows visualization of the ECRB insertion and R-LCL frontally and in parallel. A surgical plane could be created between the structures. The clinical outcome was good or excellent in 78% of the cases. LEVEL OF EVIDENCE: Level IV, therapeutic case series.