Tuckerniemann9916
In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the CREBBP gene involved in MHS, and we make formal recommendations based on our literature review.Idiopathic scoliosis affects a severe number of children. Their quality of life and development are also disturbed. Some therapeutic strategies have been developed to control illness progression and to optimize the quality of life. In this perspective, randomized, case-control, interventional study, the impact of using melatonin, calcium, and vitamin D, respectively, on idiopathic scoliosis patients was analyzed. Our preliminary results showed that these drugs positively affected the illness progression quantified by the spine curvature. Patients with idiopathic scoliosis may benefit from a novel treatment by supplementation with vitamin D, calcium, and melatonin.The aim of this study was to investigate the quality of life of children and adolescents affected by cleft lip, palate and alveolus (CLPA) in the Italian population after a tailored treatment dental program. A prospective study was conducted with subjects of both genders at the University Hospital of Pisa, Italy. This study included 32 patients (11 females and 21 males, mean age 9.8 ± 2.1 years old) affected by CLPA (test group); a tailored oral hygiene instruction protocol was adopted in the test group since early age (6.1 ± 0.9 years old) after corrective surgery and regular dental hygiene appointments were scheduled. Moreover, a control group of 32 patients (11 females and 21 males, mean age 10.1 ± 2.2 years old) without CLPA was included; control subjects were first-visit patients, matched for age and sex, who had not received a specific dental hygiene program before. The OHIP-14 (Oral Health Impact Profile) questionnaire was applied for the evaluation of the quality of life of patients of both groups and the questions were presented directly to the patients. Moreover, the DMFT (Decayed, Missed and Filled Teeth) index was measured. A statistical analysis was performed and the level of significance was set at p < 0.05. The OHIP-14 scores presented significant differences between the two groups (p < 0.05); the test group exhibited a lower mean OHIP-14 score in comparison to the control group. The DMFT score was significantly lower in the test group in comparison to controls (p 0.001, p < 0.05). The quality of life and DMFT score of children and adolescents affected by CLPA, after a tailored treatment dental program, were better than that of the subjects of the control group.The prevalence of substance abuse is high during adolescence, and several studies have linked the use of alcohol and cannabis in adolescence to different cognitive impairments. To investigate whether specific cognitive deficits can be observed in adolescents with substance use disorder (SUD), we compared the cognitive profiles of inpatient adolescents diagnosed with SUD to a control group matched for sex, age and educational status. The inpatient adolescents received diagnoses of cannabis use disorder, alcohol use disorder or both. We compared the WISC-V profiles of 22 inpatients (45.5% female, Mage 14.5; SD 0.8) and the WAIS-IV profiles of 27 inpatients (44.4% female, Mage 17.1; SD 0.9) to 49 matched control participants with no diagnosed SUD. At the time of testing, participants were hospitalized for treatment of their SUD and were abstinent for a period of at least 6 weeks. To gain greater power, we jointly analyzed the Verbal Comprehension Index, Working Memory Index, Processing Speed Index and Full Scale IQ as assessed by WISC-V and WAIS-IV. The clinical group performed significantly worse than the control group on all the above indices. When only the group of inpatients was observed, in a model with the factors sex, educational status, presence of a comorbid diagnosis of depression and the number of comorbid diagnoses, only the factor educational status was significantly associated with the Full Scale IQ, whereas the factors sex and a comorbid diagnosis of depression in this group were associated with the Processing Speed Index. The results show that adolescents diagnosed with SUD (cannabis and/or alcohol) display broad cognitive impairments after 6 weeks of abstinence. Future research is required to further explore the role of comorbid diagnoses.Children with Autism Spectrum Disorder (ASD) face several challenges due to deficits in social function and communication along with restricted patterns of behaviors. Often, they also have difficult-to-manage and disruptive behaviors. At the moment, there are no pharmacological treatments for ASD core features. Recently, there has been a growing interest in non-pharmacological interventions for ASD, such as neuromodulation. In this retrospective study, data are reported and analyzed from 21 patients (13 males, 8 females) with ASD, with an average age of 9.1 (range 5-15), who received six months of transcranial photobiomodulation (tPBM) at home using two protocols (alpha and gamma), which, respectively, modulates the alpha and gamma bands. They were evaluated at baseline, after three and six months of treatment using the Childhood Autism Rating Scale (CARS), the Home Situation Questionnaire-ASD (HSQ-ASD), the Autism Parenting Stress Index (APSI), the Montefiore Einstein Rigidity Scale-Revised (MERS-R), the Pittsburgh Sleep Quality Index (PSQI) and the SDAG, to evaluate attention. Findings show that tPBM was associated with a reduction in ASD severity, as shown by a decrease in CARS scores during the intervention (p < 0.001). A relevant reduction in noncompliant behavior and in parental stress have been found. Moreover, a reduction in behavioral and cognitive rigidity was reported as well as an improvement in attentional functions and in sleep quality. Limitations were discussed as well as future directions for research.(1) Background Diaphyseal forearm fractures are a common injury in children and adolescents. When operative treatment is needed, elastic stable intramedullary nailing (ESIN) is the most common surgical procedure. Although there is no clear evidence, hardware removal after fracture healing is performed in many patients. Often, the primary minimal invasive incision needs to be widened during implant removal. In order to decrease the burden of care of pediatric fractures, significant efforts were made to develop biodegradable implants, which make hardware removal unnecessary. Our study will conduct an observational trial on the clinical use of the Activa IM-Nail™ in forearm fractures in children between 3 and 13 years of age. The objective of this trial is to evaluate the risks and benefits of the Activa IM-Nail™. Among other objectives, the rate of refracture will be determined. (2) Methods An international Europe-based, multicenter, prospective, single-arm, open-label study will be performed to ascertain the rdren in the context of a PMCF study. The use of Activa IM-Nails™ with regard to various objectives, including postoperative complications and refracture rate, seems to be equal to the standard titan ESIN procedure compared to the literature. Preliminary results are encouraging and are made available.Physical literacy (PL) is one of the main concepts related to lifelong physical activity (PA) and physical fitness (PF), but there is a lack of information on factors that might be associated with PL in adolescents from southeastern Europe. selleck products This study aimed to evaluate the associations between PF, participation and achievement in physical education (PE), out-of-school participation in sports, and PL in high school adolescents from Croatia. Participants were 298 high school students aged 14-18 years (191 females). Variables included school age, PE grade, sports participation, anthropometric indices, four PF tests, and PL (evidenced by CAPL-2-knowledge and understanding questionnaire (CAPL-2-KU) and PLAYself questionnaire). Gender-stratified analyses of differences were conducted using the t-test for independent samples or the Mann-Whitney test. Associations between variables were calculated with Pearson's product moment correlation or Spearman's rank order correlation. PF was positively correlated CAPL-2-KU in both genders. PE grade was significantly associated with PLAYself score (Pearson's correlation = 0.36 and 0.38, p < 0.001 for boys and girls, respectively) but not with the CAPL-2-KU score. School age was not correlated with PL among boys, but there was a significant but negligible correlation between CAPL-2-KU and school age in girls (<2% of the common variance). Adolescents involved in sports had better PL and PF compared with adolescents not involved in sports. In conclusion, participation in out-of-school sports offers a good base for developing PL. Although this study took part over the COVID-19 pandemic period when the regular PE curriculum was significantly altered, the poor associations between school age and PL could lead to the assumption that the current PE curriculum does not allow for improvement of PL in later high school age, which warrants further investigation.
To analyze the clinical data of patients aged < 6 months with developmental dislocation of the hip (DDH) treated with Pavlik Harness (PH) in order to identify the best time to terminate PH treatment.
Fifty-four patients (47 females, 7 males; 63 hips) met the inclusion criteria and were included in the study; there were 33 (61.1%) left, 12 (22.2%) right and 9 (16.7%) bilateral DDH. The mean age at diagnosis was 11.8 ± 5.9 weeks (range, 1.4-25.5). All patients underwent fulltime PH treatment for about three months. At completion of PH treatment, patients were then divided into
, including patients with clinically stable hip joint and Graf type-I hip on ultrasound (US), and
, including patients with clinically stable hip joint and well-reduced hip on anterior-posterior (AP) radiographs without acetabular dysplasia. Six months after completion of PH treatment, the presence/absence of residual acetabular dysplasia (RAD) was evaluated on AP pelvis radiographs. The
-test and chi-square test were usenal follow-up, AI in
(20.5° ± 3.3°) was not significantly different from that in
(21.9° ± 3.3°;
= 0.132). At the last follow-up visit, five hips (11.1%) in
still had RAD, compared to none in
(
= 0.31).
In patients with DDH treated by PH, Graf type-I on US is not an absolute timing to terminate PH treatment. In addition, patients ≥ 13 weeks had a high risk of RAD despite PH treatment as 51.1% of infants developed RAD during follow up. Follow-up radiographs should be requested in all patients achieving Graf type-I hips at completion of PH treatment.
In patients with DDH treated by PH, Graf type-I on US is not an absolute timing to terminate PH treatment. In addition, patients ≥ 13 weeks had a high risk of RAD despite PH treatment as 51.1% of infants developed RAD during follow up. Follow-up radiographs should be requested in all patients achieving Graf type-I hips at completion of PH treatment.Arthritis is a common condition that any pediatrician may have to deal with [...].The theory that footwear may change foot shape dates back 100 years. Since this period, research has revealed the anatomical and functional consequences that footwear can cause to the foot. Children's feet remain malleable as they undergo developmental changes until adolescence, which is why childhood is arguably a crucial period to understand how footwear can affect natural foot development. This review explored the development of the foot in children and adolescents and the methods used to measure the different foot structures; it comments on the key issues with some of these methods and gives direction for future research. Various internal and external factors can affect foot development; the main factors are age, gender, ethnicity, body mass index (BMI) and footwear habits. Research on how footwear can affect foot development has increased over the years and the final section of this review aimed to unpick the findings. Studies investigating the influence of footwear habits on foot length and width have established inconsistent findings.
