Basketball Fatigue Impact on Kinematic Parameters and 3-Point Shooting Accuracy: Insights across Players' Positions and Cardiorespiratory Fitness Associations of High-Level Players.

This study investigated the impact of basketball-induced fatigue on 3-point jump shooting accuracy, the ball's entry angle (EA) into the hoop, shot release time (RT), their relationship with player positions in high-level basketball, and the correlation between cardiorespiratory fitness markers and potential shooting performance changes. Guards (n = 13), forwards (n = 13), and centers (n = 12) underwent physiological assessments. Sequentially, they performed 15 jump shots (PRE), a basketball exercise simulation (BEST) involving 24 × 30 s circuit activities, and a repeated shooting test (POST). The study design was double-blind. The results revealed significant differences (p ≤ 0.05) in RT, EA, and successful shots (SSs) between PRE and POST in each group. The percentage changes from PRE to POST conditions across guards, forwards, and centers were for RT: 25.34% [95%CI: 1.7-48.98], 19.73% [95%CI: -1.9-41.36], 14.95% [95%CI: -5.23-35.13]; for EA: -3.89% [95%CI: -14.82-7.04], -3.13% [95%CI: -12.9-6.64], -3.47% [95%CI: -14.19-7.25]; and for SS: -14.42% [95%CI: -36.5-7.66], -16.76% [95%CI: -40.81-7.29], -19.44% [95%CI: -46.7-7.82], respectively. Post-test differences (p ≤ 0.05) highlighted greater fatigue impact on RT, EA, and SS from guards to centers. Additionally, significant correlations (p ≤ 0.05) were found between the ventilatory threshold, mean HR during BEST, and changes in RT, EA, and SS. This study highlights the substantial impact of basketball-induced fatigue on 3-point shooting parameters across player positions and the interplay with cardiorespiratory factors post-fatigue. Tailored training, considering heart rate, is crucial to optimizing shooting performance.

The Role of Mitophagy in Glaucomatous Neurodegeneration.

This review aims to provide a better understanding of the emerging role of mitophagy in glaucomatous neurodegeneration, which is the primary cause of irreversible blindness worldwide. Increasing evidence from genetic and other experimental studies suggests that mitophagy-related genes are implicated in the pathogenesis of glaucoma in various populations. The association between polymorphisms in these genes and increased risk of glaucoma is presented. Reduction in intraocular pressure (IOP) is currently the only modifiable risk factor for glaucoma, while clinical trials highlight the inadequacy of IOP-lowering therapeutic approaches to prevent sight loss in many glaucoma patients. Mitochondrial dysfunction is thought to increase the susceptibility of retinal ganglion cells (RGCs) to other risk factors and is implicated in glaucomatous degeneration. Mitophagy holds a vital role in mitochondrial quality control processes, and the current review explores the mitophagy-related pathways which may be linked to glaucoma and their therapeutic potential.

Defining and Reporting on Critical Values in Genetics: A Laboratory Survey.

BACKGROUND: Although an obvious critical value in metabolic genetics would be ammonia, it is more challenging to define critical values in molecular genetics and cytogenetics. The objective of this study was to survey genetic laboratories in Ontario, Canada, to determine whether different centers considered similar results as critical and thus potentially deserving of a different reporting process. METHODS: An online 11-question survey was emailed to Ontario laboratory directors, and the results were analyzed. RESULTS: The response rate was 82% (9/11). Cytogenetics and molecular genetics services were each provided by 7 of the 9 centers, with 3 centers providing biochemical/metabolic genetics services and 1 providing maternal marker serum screening services. The case type (e.g., prenatal, newborn, or expedited by the ordering physician) was one factor. Quantitative fluorescence PCR for autosomal aneuploidy, pathogenic variants in both prenatal and postnatal settings, and oncological results were considered critical cytogenetics results. Pathogenic prenatal cases, indeterminate results, and unexpected results were considered more critical for molecular genetics. Critical results were more likely to prompt a telephone call or email to the ordering physician. CONCLUSION: Ontario genetics laboratories tended to have similar reporting processes for critical results. Both the types of cases and the pathogenicity of the result define what values are considered critical.

Effects of masticatory muscle training on maximum bite force and muscular endurance.

OBJECTIVE: This study evaluates the effects of chewing training on strength and endurance of the masticatory muscles. MATERIALS AND METHODS: Of the 49 healthy young adults included in the study, nine served as controls for a baseline measurement of bite force. The 40 participants who actively trained their masticatory muscles were randomly divided into a 'continuous training group' (CTG) and an 'intermittent training group' (ITG). The participants performed oral motor training by clenching silicon tubes (Chewy Tubes(™)) according to a designed protocol. The muscular strength was studied in terms of maximum bite force. Muscular endurance was evaluated by measuring the duration for which the participants held 50% of their maximum bite force value. RESULTS: Both the maximum bite force and the muscular endurance capacity increased after intensive training for both groups. After 2 months, the ITG stopped training for 1 month. At this point, a significant difference was identified both in the mean bite force values and the mean muscular endurance duration: the ITG exhibited lower values. For both groups, the highest values were attained after 3 months of training. The maximum bite force values and the muscular endurance duration were observed to follow similar patterns. The effects attained decreased rapidly in both groups when the training stopped. CONCLUSIONS: For both the continuous and intermittent training groups, 4 months of chewing exercises strengthened masticatory muscles, but such effects diminished gradually for both groups when the exercises stopped.

Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.

Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically.

Dental agenesis patterns of permanent teeth in Apert syndrome.

Dental agenesis may either occur as an isolated trait (non-syndromic) or as a component in a congenital syndrome. The aim of the present study was to identify the prevalence of dental agenesis for each type of tooth and to look for dental agenesis patterns in persons with Apert syndrome. Serial panoramic radiographs of 23 individuals (five male patients and 18 female patients) were examined. Third molars were excluded. The prevalence of agenesis for at least one tooth was 34.8%. Up to two missing teeth were found for individuals with Apert syndrome. Maxillary lateral incisors and mandibular second premolars were the most frequently missing teeth. Four different dental agenesis patterns of the entire dentition were identified by using the tooth agenesis code (TAC). Two patterns occurred more frequently, both of which were symmetrical. One involved the simultaneous absence of teeth 12 and 22, and the other showed agenesis of teeth 35 and 45. In conclusion, patients with Apert syndrome were found to exhibit a high prevalence of dental agenesis. All dental agenesis patterns in which more than one tooth was missing were symmetrical.

Living with Crouzon syndrome: how do young adults with Crouzon syndrome handle their life situation?

BACKGROUND: Recent research has been focused on those attributes that appear to buffer a person against the stresses and strains of living with a visible difference. AIM: To provide some insight on how young adults with Crouzon syndrome handle their life. DESIGN: Telephone interviews were carried out with eight Crouzon syndrome individuals (six males, two females, mean age 25.4 years) and data were analysed according to the qualitative method of grounded theory. RESULTS: The informants' main concern was to make the best of their situation, showing that even in adverse conditions, as in Crouzon syndrome, several individuals do find ways to live with their difference and to succeed in various aspects of life, using strategies they construct. Such strategies, as identified from the present investigation, were labelled: committed to an engaging activity, avoiding exposed situations, actively launching oneself, struggling with normalizing facial appearance, and lowering the expectations of finding a love partner. CONCLUSIONS: The adaptation of successful coping strategies seemed to be crucial in the quest of attainment of higher self-esteem. The more the participants in the study used the coping strategies they had developed over time, the better they handled their life situation, which led to enhanced well-being.

Dental agenesis patterns in Crouzon syndrome.

Dental agenesis may be present in an isolated familiar manner, or occur as a part of a syndrome.To date, this clinical trait seems to have been overlooked in patients with Crouzon syndrome.The aim of the present study was to investigate dental agenesis and dental agenesis patterns in a population of persons with Crouzon syndrome in Sweden. Serial panoramic radiographs of 26 individuals with Crouzon syndrome (20 males, 6 females) were examined.Third molars were excluded from the assessment. The prevalence of agenesis for at least one tooth was 42.3%. Each affected patient was found to have up to 5 missing teeth. Upper and lower second premolars were the most frequently congenitally missing teeth. Eleven dental agenesis patterns of the entire dentition were identified, as described by the tooth agenesis code (TAC). All patterns were unique and asymmetric,with only one exception, a symmetric pattern of the maxillary and mandibular second premolars. In conclusion, persons with Crouzon syndrome were found to have a high prevalence of dental agenesis and a remarkable variability of dental agenesis patterns. It is important to be aware of this clinical situation, especially when orthodontic treatment planning for these patients is performed as early as in the mixed dentition.

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

DNA copy-number variations (CNVs) underlie many neuropsychiatric conditions, but they have been less studied in cancer. We report the association of a 17p13.1 CNV, childhood-onset developmental delay (DD), and cancer. Through a screen of over 4000 patients with diverse diagnoses, we identified eight probands harboring microdeletions at TP53 (17p13.1). We used a purpose-built high-resolution array with 93.75% breakpoint accuracy to fine map these microdeletions. Four patients were found to have a common phenotype including DD, hypotonia, and hand and foot abnormalities, constituting a unique syndrome. Notably, these patients were not affected with cancer. Moreover, none of the TP53-deletion patients affected with cancer (n = 4) had neurocognitive impairments. DD patients have larger deletions, which encompass but do not disrupt TP53, whereas cancer-affected patients harbor CNVs with at least one breakpoint within TP53. Most 17p13.1 deletions arise by Alu-mediated nonallelic homologous recombination. Furthermore, we identify a critical genomic region associated with DD and containing six underexpressed genes. We conclude that, although they overlap, 17p13.1 CNVs are associated with distinct phenotypes depending on the position of the breakpoint with respect to TP53. Further, detailed characterization of breakpoints revealed a common formation signature. Future studies should consider whether other loci in the genome also give rise to phenotypically distinct disorders by means of a common mechanism, resulting in a similar formation signature.

Dental appearance, with focus on the anterior maxillary dentition, in young adults with bilateral cleft lip and palate (CLP). A follow up study.

Bilateral CLP interferes with both facial and dental development. Surgical and orthodontic treatments help in optimizing facial and dental appearance. In order to improve the quality of treatment one of the keys is to evaluate the physical outcome. The aim of the present study was to evaluate the longitudinal treatment results in young adults born with a bilateral CLP during 1975-1991 in the south-west region of Sweden. Records and casts (13, 16 and 19 years) were evaluated for 35 persons with total bilateral CLP:s. They all belonged to the CLP team of Gothenburg. Occlusion, congenitally missing laterals, peg shaped laterals, impacted canines, midline, implants, prosthetic treatment and maxillofacial surgery were among the recorded variables. Unilateral or bilateral missing laterals were common (40%) as were peg shaped laterals (40%). Six children had impacted canines. A good symmetry and a straight midline between jaws were found after treatment for 60% of the young adults. It was more common to have canines positioned in the region for a missing or extracted lateral compared to having the lateral replaced with an implant or other prosthetic treatment. Asymmetrical maxillary frontal appearance and an acceptable occlusion are not always achieved. Awareness of and effort to solve this problem are important in reducing factors that are likely to negatively affect the harmony of the face.

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

Osteosarcomas are copy number alteration (CNA)-rich malignant bone tumors. Using microarrays, fluorescence in situ hybridization, and quantitative PCR, we characterize a focal region of chr3q13.31 (osteo3q13.31) harboring CNAs in 80% of osteosarcomas. As such, osteo3q13.31 is the most altered region in osteosarcoma and contests the view that CNAs in osteosarcoma are nonrecurrent. Most (67%) osteo3q13.31 CNAs are deletions, with 75% of these monoallelic and frequently accompanied by loss of heterozygosity (LOH) in flanking DNA. Notably, these CNAs often involve the noncoding RNAs LOC285194 and BC040587 and, in some cases, a tumor suppressor gene that encodes the limbic system-associated membrane protein (LSAMP). Ubiquitous changes occur in these genes in osteosarcoma, usually involving loss of expression. Underscoring their functional significance, expression of these genes is correlated with the presence of osteo3q13.31 CNAs. Focal osteo3q13.31 CNAs and LOH are also common in cell lines from other cancers, identifying osteo3q13.31 as a generalized candidate region for tumor suppressor genes. Osteo3q13.31 genes may function as a unit, given significant correlation in their expression despite the great genetic distances between them. In support of this notion, depleting either LSAMP or LOC285194 promoted proliferation of normal osteoblasts by regulation of apoptotic and cell-cycle transcripts and also VEGF receptor 1. Moreover, genetic deletions of LOC285194 or BC040587 were also associated with poor survival of osteosarcoma patients. Our findings identify osteo3q13.31 as a novel region of cooperatively acting tumor suppressor genes.

Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage.

DNA damage surveillance networks in human cells can activate DNA repair, cell cycle checkpoints and apoptosis in response to fewer than four double-strand breaks (DSBs) per genome. These same networks tolerate telomeres, in part because the protein TRF2 prevents recognition of telomeric ends as DSBs by facilitating their organization into T loops. We now show that TRF2 associates with photo-induced DSBs in nontelomeric DNA in human fibroblasts within 2 s of irradiation. Unlike gammaH2AX, a common marker for DSB damage, TRF2 forms transient foci that colocalize closely with DSBs. The TRF2 DSB response requires the TRF2 basic domain but not its Myb domain and occurs in the absence of functional ATM and DNA-PK protein kinases, MRE11/Rad50/NBS1 complex and Ku70, WRN and BLM repair proteins. Furthermore, overexpression of TRF2 inhibits DSB-induced phosphorylation of ATM signaling targets. Our results implicate TRF2 in an initial stage of DSB recognition and processing that occurs before association of ATM with DSBs and activation of the ATM-dependent DSB response network.

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.

Telomerase-negative immortalized human cells maintain telomeres by alternative lengthening of telomeres (ALT) pathway(s), which may involve homologous recombination. We find that endogenous BLM protein co-localizes with telomeric foci in ALT human cells but not telomerase positive immortal cell lines or primary cells. BLM interacts in vivo with the telomeric protein TRF2 in ALT cells, as detected by FRET and co-immunoprecipitation. Transient over-expression of green fluorescent protein (GFP)-BLM results in marked, ALT cell-specific increases in telomeric DNA. The association of BLM with telomeres and its effect on telomere DNA synthesis require a functional helicase domain. Our results identify BLM as the first protein found to affect telomeric DNA synthesis exclusively in human ALT cells and suggest that BLM facilitates recombination-driven amplification of telomeres in ALT cells.