Victor Lopez

Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts

BACKGROUND Bipolar affective disorder (BPAD) is a common mental illness that is strongly associated with suicide. Suicidal behavior is thought to result from an interaction of genetic, neurobiological, and psychosocial factors and tends to cluster in families, suggesting specific familial factors distinct from those that underlie BPAD itself. Serotonin signaling has long been implicated in both BPAD and suicide, and the gene encoding the brain-expressed isoform of tryptophan hydroxlyase (TPH2) has been described. Markers in TPH2 have been implicated in suicide and major depressive disorder, but the results across studies are inconsistent. No studies have examined TPH2 in large samples of subjects with BPAD and suicide attempts (SA). We tested for a relationship between genetic variation in TPH2 and risk for BPAD and SA in a large family sample. METHODS The sample consisted of 2018 members of 670 families, ascertained through a sibling pair affected with bipolar I, bipolar II, or schizoaffective-bipolar disorder and diagnosed under DSM-III/IV criteria. Three single nucleotide polymorphisms representing the common haplotypes spanning TPH2 were analyzed. RESULTS Single-marker analysis failed to detect significant genetic association with BPAD or SA, but the number of informative families was small. Haplotype analysis showed significant association with both BPAD and SA, and the same haplotype was significantly associated with both BPAD and SA in a replication sample. Case-only analysis, stratified by SA, suggested that TPH2 was not an independent genetic risk factor for SA in this sample. CONCLUSIONS The TPH2 might contribute to the risk of both BPAD and SA in families with BPAD. Further studies are needed to uncover the functional genetic variation that accounts for the observed associations.

Profile of an American Amateur Rugby Union Sevens Series

Background: Rugby union will enter the Olympic arena as Rugby Sevens in 2016. Purpose: To investigate the injury rate, injury type, and nature of injuries sustained in an amateur American rugby union sevens tournament series. Study Design: Descriptive epidemiology study. Methods: The rate, demographics, and characteristics of injury were evaluated in 1536 rugby union sevens players, from 128 sides, competing in 4 amateur 1-day tournaments in a USA Rugby local area rugby union. Results: Forty-eight injuries occurred over 4 tournaments, for an injury rate of 55.4 injuries per 1000 playing hours. Head and neck injuries were most common (33.3% of injuries), followed by upper extremity (31.3%), trunk (18.8%), lower extremity (14.6%), and physiologic injuries (2.1%). The most common type of injury was ligament sprain (25.0%); followed by concussion (14.6%), hematoma/contusion (12.5%), muscle strain (10.4%), and abrasion (8.3%). Tackling was the most common mechanism of injury (74.5%). Males were injured at a significantly higher rate than females (RR, 7.5, P < .01), but no significant difference was observed based on player position (P = .08). Conclusion: Injuries are common among American amateur rugby athletes, with a substantial proportion involving the head and neck region. Clinical Relevance: Understanding injury patterns in an American rugby union will be important for formulating future injury prevention, assessment, and treatment protocols.

Attempted Suicide in Bipolar Disorder Pedigrees: Evidence for Linkage to 2p12

BACKGROUND We are interested in identifying susceptibility genes that predispose subjects to attempted suicide. METHODS We conducted a secondary analysis of genome-wide linkage data from 162 bipolar pedigrees that incorporated attempted suicide as a clinical covariate. RESULTS The strongest covariate-based linkage signal was seen on 2p12 at marker D2S1777. The logarithm of odds (LOD) score at marker D2S1777 rose from 1.56 to 3.82 after inclusion of the suicide covariate, resulting in significant chromosome-wide empirically derived p-values for the overall linkage finding (p = .01) and for the change in LOD score after the inclusion of the covariate (p = .02). CONCLUSIONS The finding on chromosome 2 replicates results from two previous studies of attempted suicide in pedigrees with alcohol dependence and in pedigrees with recurrent early-onset depression. Combined, these three studies provide compelling evidence for a locus influencing attempted suicide on 2p12.

Hip Dislocations in Athletes

Dislocation of the hip is a rare injury in sport. The deep bony anatomy and strong ligamentous and muscular support provide significant protection for the hip joint and contribute to the low incidence of this injury. However, with the significant size, speed, and strength of some athletes and the prevalence of violent bodily contact in sport, severe injuries, such as hip dislocations, do occur. The high forces required to dislocate a hip place the hip joint at high risk for severe associated injuries and complications. Accurate diagnosis, proper evaluation, and timely intervention are crucial to manage a hip dislocation and its associated injuries, avoid complications, and obtain the best possible outcome.

Costal cartilage fractures and disruptions in a rugby football player.

Costal cartilage fracture of the rib cage, or costochondral, is a rare sporting injury. For contact athletes, the instability of the rib cage may lead to potential serious complications, similar to rib fractures or thorax disruption. Most authors recommend initial conservative treatment with surgery reserved for only recalcitrant cases. We report a case of an amateur American male rugby football player who sustained a costal cartilage fracture and disruption involving the anterior left fifth and sixth rib costal cartilages. The case highlights the difficulty in establishing the diagnosis based on clinical examination and standard radiographs alone. Computed tomography was used to assist in diagnosing this destabilizing injury to the rib cage. Costal cartilage fractures and disruptions in athletes are rarely reported in the literature and can have serious implications for the athletes ability to return to play if the rib cage is destabilized.

Injury profile of american women's rugby-7s

PURPOSE The objective of this study is to determine incidence (injuries/1000 playing hours (ph)), severity (days of absence), and cause of match injuries in US womens Rugby-7s. METHODS We performed a prospective epidemiological study (2010-2013) of injury of 3876 under-19 to elite/national female Rugby-7s players (nonelite = 3324, elite = 552) on 323 teams (nonelite = 277, elite = 46), applying methodology and injury definitions compliant with the international consensus statement on rugby research. Injuries occurred in USA Rugby-sanctioned tournament series: USA Rugby Local Area (2010), Territorial Union (2011-2013), National and All-Star Sevens Series, and USA Sevens Invitational (2011-2012) and Collegiate Rugby Championships (2012). RESULTS One hundred and twenty time-loss injuries were encountered (elite, n = 15; 13%) with an injury rate of 46.3 injuries/1000 ph. Injury rates in nonelite were 49.3/1000 ph, and in national level (elite) candidates, 32.6/1000 ph (RR = 1.5, P = 0.130). Mean days missed found elite level players at 74.9 d per injury, whereas nonelite at 41.8 d (P = 0.090). Acute injuries were significant (95%, RR = 1.9, P < 0.001), resulting in immediate removal from the pitch (56%, P < 0.001). The main mechanism of injury occurred when tackling players (73%, P < 0.001). The most common type of injury seen were ligament sprains (37%, 13.9/1000 ph), involving the lower extremity (45%, 20.5/1000 ph). The most common body parts injured were the knee and head/face (16%, 7.3/1000 ph). CONCLUSIONS Time-loss injuries occurred with frequency in the US womens Rugby-7s tournaments. Overall injury rates in US women are lower than those in international elite men and womens Rugby-7s. The head and neck area in our female players was injured at greater rates (16%) than in international male Rugby-7s (5%). Injury prevention in US womens Rugby-7s must focus on injuries of the knee, head, and neck. Understanding risk factors will allow safe return-to-play decisions and formulate injury prevention protocols.

An American Experience with a New Olympic Collision Sport: Rugby Sevens

Objectives: Rugby Sevens is a future Olympic collision sport that is played globally with a high incidence of injury. The sport is growing exponentially in the U.S. There is limited injury data on Rugby Sevens. Currently, there is no study evaluating incidence of injury in the National Rugby Sevens population in the U.S. The objective of this study was to characterize the injury rates among amateur Rugby Sevens players in the U.S. Methods: This was a prospective descriptive injury epidemiology study involving American Rugby Sevens tournaments from 2010-2013. The injury data were collected from both male and female Rugby Sevens players (13, 524 players) and conformed to the international consensus statement on rugby injury definitions. The study included a total of 1,127 teams competing in under-15 to national candidate level tournaments (USA Rugby Local Area, Territorial Union, National and All-Star Sevens Series, USA Sevens Invitational and Collegiate Rugby Championships). A total of 2746 matches were played, 2734 lasting 14-minutes (0.23 hours) in length and 12 lasting 20-minutes (0.33 hours) in length. The overall injury exposure for all players was 8858.9 playing hours (7 players per side * 2 teams per match * 0.23 hours per match * 2734 matches + 7 players per side * 2 teams per match * 0.33 hours per match * 12 matches). Player injury data were reported as proportion (%), mean (SD), and rate of injury as injuries per 1000 playing hours. Results: Incidence of combined medical attention and time-loss injuries was 97.7/1000 playing hours (n=875 injuries) (23.6±5 years old). Time-loss injuries alone were encountered at 43.1/1000 playing hours (n=380 injuries) (forwards, 14.3/1000, n=127; backs 25.7/1000, n=228) (RR: 1.8; 1.53-2.11, P < 0.001). Elite/national male competitors (242.6/1000) were injured more often than lower playing levels (147.6/1000) (P < 0.001). Most injuries were acute injuries (96%) that occurred during the tackling phase of play (97%), and it resulted mainly from contact with an opposing player (67%). The main injuries seen were ligament sprain in lower extremities (43%). Upper extremity injuries were seen more often among male players (76%) than female players (24%) (RR: 0.31, CI: 0.25-0.40, P < 0.001). Knee injuries were seen more often in women’s elite players than men’s elite players (P = 0.014). Head/neck injuries (backs, 58%; forwards, 42%) occurred more often in male players (74%) (RR: 0.34; CI: 0.26-0.44, P < 0.001). Conclusion: Injury prevention in American Rugby Sevens should focus on proper tackling technique as most injuries in our series occurred during tackling. We also saw a significant number of head/neck injuries in our U.S. playing population, which may reinforce the importance of proper tackling technique in this collision sport. The rate of head/neck injuries (23%) in our U.S. cohort (National candidates, 25%; lower competitors, 23%) was higher than the rate reported among international male Rugby Sevens players (5%) (Table 1). Overall, our National candidates had higher rates of time loss injuries than lower American amateur playing levels. Our observed injury rate among U.S. elite players is also higher than that reported for international male Rugby Sevens population. Understanding the injury profile of American Rugby Sevens is important to healthcare providers and would direct the growth and safety of this growing collision sport, allowing safe return-to-play decisions and formulation of prevention protocols.