Oral manifestations in a boy with X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder (XLPDR) is a rare, multi-systemic disease with only a limited number of families described in the literature. XLPDR has a genetic origin and the gene has been mapped to Zp22p21. Dental features resemble those of hypohidrotic ectodermal dysplasia. A case of a 3-years-old boy is described

Specificity of the Minimal Clinically Important Difference of the Quick Disabilities of the Arm Shoulder and Hand (QDASH) for Distal Upper Extremity Conditions

Retrospective cohort design. The minimal clinically important difference (MCID) for the quick Disabilities of the Arm, Shoulder and Hand (QDASH) has been established using a pool of multiple conditions, and only exclusively for the shoulder. Understanding diagnoses-specific threshold change values can enhance the clinical decision-making process. Before and after QDASH scores for 406 participants with conditions of surgical distal radius fracture, non-surgical lateral epicondylitis, and surgical carpal tunnel release were obtained. The external anchor administered at each fourth visit was a 15-point global rating of change scale. The test-retest reliability of the QDASH was moderate for all diagnoses: intraclass correlation coefficient model 2, 1, for surgical distal radius = 0.71; non-surgical lateral epicondylitis = 0.69; and surgical carpal tunnel = 0.69. The minimum detectable change at the 90% confidence level was 25.28; 22.49; and 27.63 points respectively; and the MCID values were 25.8; 15.8 and 18.7, respectively. For these three distal upper extremity conditions, a QDASH MCID of 16-26 points could represent the estimate of change in score that is important to the patient and guide clinicians through the decision-making process

A Retrospective Cohort Study of QuickDASH Scores for Three Hand Therapy Acute Upper Limb Conditions

Introduction: The QuickDASH is a valid and reliable outcome measure widely used to assess the function and pain in arm, shoulder, and hand disabilities. A recent study introduced a QuickDASH 80% cut point test to gauge patients at risk of poor outcomes. However, the utility of this test has not been validated. Purpose: To determine typical QuickDASH scores for three upper limb conditions and to test the sensitivity and specificity of the QuickDASH 80% cut point test in predicting patients at risk of poor outcomes. Methods: This is a retrospective study with a total of 406 patient records for whom QuickDASH scores were examined. The sensitivity and specificity of the QuickDASH 80% cut point test was investigated for three acute upper limb conditions seen in hand therapy: surgical distal radius fracture, nonsurgical lateral epicondylitis, and carpal tunnel release. Results: Typical scores were determined for three upper limb conditions. The QuickDASH 80% cut point test per upper limb condition returned poor sensitivity between 28.57% and 41.67%. Conclusion: The results did not support the QuickDASH 80% cut point test as a predictor of final outcome in these three patient populations. Patients with the worse initial 20% scores were not correctly classified as worse 20% final scores. This study provides summary data from three upper limb conditions to provide clinicians with comparison data to establish goals and educate patients

Adherence of Individuals in Upper Extremity Rehabilitation: A Qualitative Study

OBJECTIVE: To describe the rehabilitation experiences, expectations, and treatment adherence of patients receiving upper extremity (UE) rehabilitation who demonstrated discrepancy between functional gains and overall improvement. DESIGN: Qualitative (phenomenologic) interviews and analysis. SETTING: Outpatient UE rehabilitation. PARTICIPANTS: Patients with acute UE injuries (N=10). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Concerns related to UE rehabilitation patients demonstrating discrepancy between outcome measures. RESULTS: Five key themes emerged from the interviews of patients demonstrating discrepancy in their self-reported patient outcomes: (1) desire to return to normal, (2) initial anticipation of brief recovery, (3) trust of therapist, (4) cannot stop living, and (5) feelings of ambivalence. Challenges included living with the desire to move back into life. Multiple factors affected patient adherence: cost of treatment, patient-provider relation (difference between therapist and patient understanding on what is important for treatment), and patients expecting the treating therapists to be an expert and fix their problem. CONCLUSIONS: Patient adherence to UE rehabilitation presents many challenges. Patients view themselves as laypersons and seek the knowledge of a dedicated therapist who they trust to spend time with them to understand what they value as important and clarify their injury, collaboratively make goals, and explain the intervention to get them in essence, back into life, in the minimal required time. When categorized according to the World Health Organization\u27s multidimensional adherence model, domains identified in this model include social and economic, health care team and system, condition-related, therapy-related, and patient-related dimensions. Assessing factors identified to improve efficiency and effectiveness of clinical management can enhance patient adherence

Severe osteomyelitis caused by Myceliophthora thermophila after a pitchfork injury

BACKGROUND: Traumatic injuries occurring in agricultural settings are often associated with infections caused by unusual organisms. Such agents may be difficult to isolate, identify, and treat effectively. CASE REPORT: A 4-year-old boy developed an extensive infection of his knee and distal femur following a barnyard pitchfork injury. Ultimately the primary infecting agent was determined to be Myceliophthora thermophila, a thermophilic melanized hyphomycete, rarely associated with human infection, found in animal excreta. Because of resistance to standard antifungal agents including amphotericin B and caspofungin, therapy was instituted with a prolonged course of terbinafine and voriconazole. Voriconazole blood levels demonstrated that the patient required a drug dosage (13.4 mg/kg) several fold greater than that recommended for adults in order to attain therapeutic blood levels. CONCLUSION: Unusual pathogens should be sought following traumatic farm injuries. Pharmacokinetic studies may be of critical importance when utilizing antifungal therapy with agents for which little information exists regarding drug metabolism in children

Negative parental responses to coming out and family functioning in a sample of lesbian and gay young adults

Parental responses to youths' coming out (CO) are crucial to the subsequent adjustment of children and family. The present study investigated the negative parental reaction to the disclosure of same-sex attraction and the differences between maternal and paternal responses, as reported by their homosexual daughters and sons. Participants' perceptions of their parents' reactions (evaluated through the Perceived Parental Reactions Scale, PPRS), age at coming out, gender, parental political orientation, and religiosity involvement, the family functioning (assessed through the Family Adaptability and Cohesion Evaluation Scales, FACES IV), were assessed in 164 Italian gay and lesbian young adults. Pearson correlation coefficients were calculated to assess the relation between family functioning and parental reaction to CO. The paired sample t-test was used to compare mothers and fathers' scores on the PPRS. Hierarchical multiple regression was conducted to analyze the relevance of each variable. No differences were found between mothers and fathers in their reaction to the disclosure. The analysis showed that a negative reaction to coming out was predicted by parents' right-wing political conservatism, strong religious beliefs, and higher scores in the scales Rigid and Enmeshed. Findings confirm that a negative parental reaction is the result of poor family resources to face a stressful situation and a strong belief in traditional values. These results have important implications in both clinical and social fields

Sustained TL1A expression modulates effector and regulatory T-cell responses and drives intestinal goblet cell hyperplasia

The tumor necrosis factor (TNF) superfamily protein TNF-like 1A (TL1A) is the ligand for death receptor 3 (DR3). TL1A is induced on activated dendritic cells (DCs) and its expression has been linked to human inflammatory bowel disease. To address how TL1A might influence intestinal inflammation, we generated transgenic mice that constitutively express TL1A on DCs. TL1A transgenic mice developed striking goblet cell hyperplasia in the ileum that was associated with elevated interleukin (IL)-13 levels in the small intestine. IL-13- and IL-17-producing small intestinal lamina propria T cells were increased in TL1A transgenic mice. TL1A also enhanced regulatory T (Treg) cell turnover in vivo and directly stimulated Treg cell proliferation in vitro. The presence of TL1A attenuated the ability of Treg cells to suppress conventional T cells, an effect that required DR3 signaling in either conventional T cells or Treg cells. Our findings identify mechanisms by which chronic DR3 signaling could promote pathogenesis in inflammatory bowel disease.<br/

Nine weeks of supplementation with a multi-nutrient product augments gains in lean mass, strength, and muscular performance in resistance trained men

<p>Abstract</p> <p>Background</p> <p>The purpose of this study was to compare the effects of supplementation with Gaspari Nutrition's SOmaxP Maximum Performance™ (SOmaxP) versus a comparator product (CP) containing an equal amount of creatine (4 g), carbohydrate (39 g maltodextrin), and protein (7 g whey protein hydrolysate) on muscular strength, muscular endurance, and body composition during nine weeks of intense resistance training.</p> <p>Methods</p> <p>Using a prospective, randomized, double-blind design, 20 healthy men (mean ± SD age, height, weight, % body fat: 22.9 ± 2.6 y, 178.4 ± 5.7 cm, 80.5 ± 6.6 kg, 16.6 ± 4.0%) were matched for age, body weight, resistance training history, bench press strength, bench press endurance, and percent body fat and then randomly assigned via the ABBA procedure to ingest 1/2 scoop (dissolved in 15 oz water) of SOmaxP or CP prior to, and another 1/2 scoop (dissolved in 15 oz water) during resistance exercise. Body composition (DEXA), muscular performance (1-RM bench press and repetitions to failure [RTF: 3 sets × baseline body weight, 60-sec rest between sets]), and clinical blood chemistries were measured at baseline and after nine weeks of supplementation and training. Subjects were required to maintain their normal dietary habits and follow a specific, progressive overload resistance training program (4-days/wk, upper body/lower body split) during the study. An intent-to-treat approach was used and data were analyzed via ANCOVA using baseline values as the covariate. Statistical significance was set <it>a priori </it>at p ≤ 0.05.</p> <p>Results</p> <p>When adjusted for initial differences, significant between group post-test means were noted in: 1-RM bench press (SOmaxP: 133.3 ± 1.3 kg [19.8% increase] vs. CP: 128.5 ± 1.3 kg [15.3% increase]; p < 0.019); lean mass (SOmaxP: 64.1 ± 0.4 kg [2.4% increase] vs. 62.8 ± 0.4 kg [0.27% increase], p < 0.049); RTF (SOmaxP: 33.3 ± 1.1 reps [44.8% increase] vs. 27.8 ± 1.1 reps [20.9% increase], p < 0.004); and fat mass (SOmaxP: 12.06 ± 0.53 kg [9.8% decrease] vs. 13.90 ± 0.53 kg [4.1% increase], p < 0.024). No statistically significant differences in vital signs (heart rate, systolic and diastolic blood pressures) or clinical blood chemistries were noted.</p> <p>Conclusions</p> <p>These data indicate that compared to CP, SOmaxP administration augments and increases gains in lean mass, bench press strength, and muscular performance during nine weeks of intense resistance training. Studies designed to confirm these results and clarify the molecular mechanisms by which SOmaxP exerts the observed salutary effects have begun. Both SOmaxP and the CP were well-tolerated, and no supplement safety issues were identified.</p