Craniofacial Features in Richieri-Costa-Pereira Syndrome.

OBJECTIVE: Patients with Richieri-Costa-Pereira syndrome (RCPS) present severe craniofacial alterations and frequently require orthodontic and surgical procedures. Thus, this study aims to describe the craniofacial relationships in patients with RCPS. DESIGN: Panoramic radiographs and lateral cephalometric teleradiographs of 7 patients with RCPS and 7 age- and sex-matched nonsyndromic patients were analyzed. Cephalometric measurements were used to determine the size of apical bases, the relationship between them, the pattern of craniofacial growth, and the facial heights of the patients. Interobservers' concordance was verified by intraclass coefficient. For comparison between the groups, paired t test was employed. P values <.05 indicated statistical significance. RESULTS: Average age of patients with RCPS was 18.5 years. Six patients were female. All patients with RCPS had Pierre-Robin sequence while 2 also presented cleft mandible. Most patients with RCPS had missing lower central incisors (100%), lower lateral incisors (85.7%), lower second premolars (85.7%), and/or upper lateral incisors (57.1%). Concordance between observers was excellent for all cephalometric measurements (0.87-0.99). Patients with RCPS presented severe craniofacial alterations when compared to control group: sella-nasion-B point (SNB) angle (73.8o ± 4.86o vs 78.85o ± 4.53o, P = .029), maxillary length (7.89 cm ± 0.58 cm vs 16.36 cm ± 0.75 cm, P = .001), mandibular length (9.90 cm ± 0.46 cm vs 20.61 cm ± 0.45 cm, P = .001), upper anterior face height (5.41 cm ± 0.50 cm vs 9.40 cm ± 0.47 cm, P = .001), lower anterior face height (5.48 cm ± 0.75 cm vs 11.66 cm ± 0.55 cm, P = .001), and posterior face height (6.70 cm ± 0.33 cm vs 13.65 cm ± 1.06 cm, P = .001). There was no difference in SNB, A point-nasion-B point, pogonion-nasion-B point, and mandibular place angles between the groups (P > .05). CONCLUSION: Patients with RCPS present deficient development of maxilla and mandible when compared with nonsyndromic patients.

Beta-adrenergic pathway activation in head and neck cancer: a comprehensive analysis of the clinical and genomic features using integrated bioinformatics / Ativação da via beta-adrenérgica no câncer de cabeça e pescoço: uma análise abrangente das características clínicas e gênomicas utilizando a bioinformática

O estresse crônico leva à ativação da via de sinalização beta-adrenérgica. Sua ativação tem sido implicada na progressão de diferentes tipos de câncer, mas seu papel nos carcinomas espinocelulares de cabeça e pescoço (CECPs) permanece indefinido. O objetivo deste estudo foi investigar o papel da ativação da via betaadrenérgica na progressão dos CECPs, avaliar seu impacto na sobrevida dos pacientes e buscar possíveis terapias para pacientes que encontravam-se com a via beta-adrenérgica ativa. Quinhentos e vinte pacientes do The Cancer Genome Atlas com CECPs primários foram divididos em dois grupos: ADRB2baixa / SLC6A2baixa e ADRB2alta / SLC6A2alta. A associação de características clinicopatológicas e genômicas entre os grupos foram analisadas utilizando bioinformática. Os genes diferencialmente expressos (DEGs) foram identificados através da análise da expressão diferencial. A análise de sobrevida também foi realizada com base nas expressões ADRB2 e SLC6A2. Foram identificados medicamentos em potencial para tratamento de CECPs com base nos DEGs. Houve associação entre as expressões ADRB2 e SLC6A2 com idade, raça, localização do tumor, grau histológico, invasão perineural e status do HPV p16. Foram identificados 898 DEGs entre os grupos. Foi demonstrado que a expressão ADRB2alta / SLC6A2alta influenciou a proliferação, adesão e invasão de células CECPs além da angiogênese. Pacientes com carcinomas espinocelular de laringe e faringe apresentando expressão ADRB2alta / SLC6A2alta tiveram menor sobrevida. Por fim, 56 drogas antineoplásicas e imunoterápicas aprovadas pelo Food Drugs Administration foram identificadas como potenciais alvos para o tratamento personalizado. Significância: Estes achados sugerem fortemente um papel proeminente da sinalização beta-adrenérgica no CECPs ao estimular um fenótipo tumoral mais agressivo. Estas alterações tiveram um impacto negativo no prognóstico dos pacientes com CECP em região de faringe e laringe(AU)

Chronic stress leads to the activation of the beta-adrenergic pathway. Its activation has been implicated in the progression of different types of cancer but its role on head and neck squamous cell carcinomas (HNSCCs) remains undefined. The aim of this study was to investigate the influence of the beta-adrenergic pathway activation in the progression of HNSCCs, assess its impact in the survival of the patients, and explore the potential targets. Five hundred and twenty The Cancer Genome Altas patients with primary HNSCCs were divided in two groups: ADRB2low / SLC6A2low and ADRB2high / SLC6A2high. The association of clinicopathological and genomic features between the groups was analyzed using a bioinformatic approach. Differentially expressed genes (DEGs) were identified through differential expression analysis. Survival analysis was also performed based on ADRB2 and SLC6A2 expressions. Potential drugs for treatment of HNSCC were identified based on the DEGs. There was association between ADRB2 and SLC6A2 expressions with age, race, tumor site, histologic grade, perineural invasion, and HPV p16 status. It was identified 898 DEGs between the groups. It was demonstrated that ADRB2high / SLC6A2high expression influenced HNSCC cells proliferation, adhesion, invasion, and angiogenesis. Patients with larynx and pharynx squamous cell carcinomas presenting ADRB2high / SLC6A2high expression showed had lower survival rates. Finally, 56 Food Drugs Administration-approved antineoplastic and immunotherapeutic drugs were identified as potential targets for the personalized treatment. Significance: These findings strongly suggest a prominent role of beta-adrenergic pathway in HNSCC by stimulating a more aggressive tumoral phenotype. These alterations were shown to negatively impact the prognosis of patients with larynx and pharynx squamous cell carcinomas(AU)

Effects of elastic tape on kinematic parameters during a functional task in chronic hemiparetic subjects: A randomized sham-controlled crossover trial.

BACKGROUND: Approximately 50 to 70% of post-stroke subjects present a reduction in the upper limb (UL) function even during the chronic phase. An adjuvant technique widely used in neurorehabilitation is elastic taping applications. However, its efficacy in UL treatment for post-stroke subjects still requires further investigation. OBJECTIVE: To verify the effects of elastic tape (ET) used on the paretic shoulder in upper limb (UL) performance during a drinking task. METHOD: A single-center randomized sham-controlled crossover trial randomized thirteen post-stroke subjects with mild to moderate UL impairment for group allocation to receive first Sham Tape (ST) or first Elastic Tape (ET), with one month of washout. Kinematic measures of a drinking task were taken before and after each intervention (elastic and sham tape), using Three-Dimensional Motion Analysis, and studied using feature analysis and Statistical Parametric Mapping. Outcome measures included spatiotemporal variables, scalar kinematic parameters (starting angles, range of motion-ROM, and endpoint angles) and time-normalized kinematic waveforms of trunk and UL joint angles (scapulothoracic, humerothoracic and elbow). RESULTS: Elastic tape provided common modifications throughout the task (shoulder more towards midline, reduced scapula protraction and trunk flexion) and important alterations at specific time-instants. At the end of the reaching phase, for both groups (ET and ST), the elastic tape increased elbow extension [ET: CI = 12.57 (6.90 to 18.17), p<0.001; ST: CI: 12.89 (6.79 to 18.98), p<0.001). At the end of transporting the glass to the mouth, patients who underwent the elastic tape intervention presented more shoulder elevation [ET: CI = 16.40 (4.28 to 28.52), p = 0.007; ST: CI: 15.13 (5.79 to 24.48), p = 0.002)]. Moreover, an increase of elbow extension at the end of transporting the glass to the table was observed for both groups [ET: CI = 8.13 (1.48 to 14.79), p = 0.014; ST: CI: 8.20 (4.03 to 12.38), p<0.001)]. However, no changes in the spatiotemporal parameters were observed for both groups during all the phases of the task (p>0.05). CONCLUSION: The ET changed UL joint motions and posture during a drinking task in chronic hemiparetic subjects, which defines its role as an adjuvant therapy.

Influence of Additional Ankle Weights on Kinematic Variables of Late Preterm Infants Aged 3-4 Months.

The authors analyzed and compared the effect of additional weight on the spatiotemporal parameters of the kicking movement of late preterm and full-term infants. The experiment was divided into 4 conditions: training, baseline, weight, and postweight. In the W condition, a weight of one third the lower limb mass was added to the infant's ankle. During the baseline and postweight conditions, the ankle weight was removed. Late preterm infants do not differ from full-term infants in relation to spatiotemporal variables at 3 and 4 months. However, during the weight condition, the straightness index and the hip-ankle and knee-ankle correlations decreased in the preterm infants at both ages. In contrast, the straightness index increased in the postweight condition compared to the baseline values at both ages.

Elastic Tape Improved Shoulder Joint Position Sense in Chronic Hemiparetic Subjects: A Randomized Sham-Controlled Crossover Study.

BACKGROUND: Elastic tape has been widely used in clinical practice in order to improve upper limb (UL) sensibility. However, there is little evidence that supports this type of intervention in stroke patients. OBJECTIVE: To verify the effect of elastic tape, applied to the paretic shoulder, on joint position sense (JPS) during abduction and flexion in subjects with chronic hemiparesis compared to sham tape (non-elastic tape). Furthermore, to verify if this potential effect is correlated to shoulder subluxation measurements and sensorimotor impairment. METHODS: A crossover and sham-controlled study was conducted with post-stroke patients who were randomly allocated into two groups: 1) those who received Sham Tape (ST) first and after one month they received Elastic Tape (ET); 2) those who received Elastic Tape (ET) first and after one month they received Sham Tape (ST). The JPS was evaluated using a dynamometer. The absolute error for shoulder abduction and flexion at 30° and 60° was calculated. Sensorimotor impairment was determined by Fugl-Meyer, and shoulder subluxation was measured using a caliper. RESULTS: Thirteen hemiparetic subjects (average time since stroke 75.23 months) participated in the study. At baseline (before interventions), the groups were not different for abduction at 30° (p = 0.805; p = 0.951), and 60° (p = 0.509; p = 0.799), or flexion at 30° (p = 0.872; p = 0.897) and 60° (p = 0.853; p = 0.970). For the ET group, differences between pre and post-elastic tape for abduction at 30° (p<0.010) and 60° (p<0.010), and flexion at 30° p<0.010) and 60° (p<0.010) were observed. For the ST group, differences were also observed between pre and post-elastic tape for abduction at 30° (p<0.010) and 60° (p<0.010), and flexion at 30° (p<0.010,) and 60° (p<0.010). Potential effects were only correlated with shoulder subluxation during abduction at 30° (p = 0.001, r = -0.92) and 60° (p = 0.020, r = -0.75). CONCLUSION: Elastic tape improved shoulder JPS of subjects with chronic hemiparesis regardless of the level of UL sensorimotor impairment. However, this improvement was influenced by the subluxation degree at abduction.

Influência do peso adicional nos chutes de lactentes pré-termo e de termo / Influence of additional weight on kicks of preterm and full-term infants

Introdução: O objetivo do estudo foi analisar e comparar padrões de chutes com e sem peso adicional em lactentes pré-termo e de termo aos 3 e 4 meses de idade. Materiais e métodos: Foram filmados 26 lactentes aos 3 e 4 meses de idade, divididos em Grupo Experimental, 12 lactentes pré-termo sem idade corrigida;e Grupo Controle, 14 lactentes de termo. O experimento foi subdividido em quatro condições, a saber: 1)Treinamento (T): o pesquisador tocava os pés dos lactentes no painel, elevando-o; 2) Linha de Base (LB):movimentos livres de chutes, podendo o lactente elevar ou não o painel com os pés; 3) Peso (P): acréscimo de tornozeleira pesando 1/3 da massa do membro inferior; 4) Pós-Peso (PP): idêntica à LB. Resultados: Na variável frequência de chutes, constatou-se diferença entre as idades [F(5,72) = 5,620; p = 0,0035] e entre ascondições LB-P (p = 0,023) e P-PP (p < 0,001). Na variável frequência de contato, obteve-se diferença entre as condições LB-P (p = 0,002) e P-PP (p < 0,001). Na variável sucesso ao elevar o painel, constatou-se diferença entre os grupos (x²₍₁₎ = 4,341; p = 0,0013) e as condições LB-P (p = 0,003), LB-PP (p = 0,002) e P-PP(p = 0,002) aos 3 meses de idade. Na variável duração de chute, constatou-se diferença entre as condições LB-P (p = 0,023) e P-PP (p = 0,010). Conclusão: Os chutes de lactentes pré-termo se diferenciam dos termos dependendo das características intrínsecas e extrínsecas

INTRODUCTION: The aim of this study was to analyze and compare patterns of kicks with and without additional weight in preterm and full-term infants of 3 and 4 months old. MATERIALS AND METHODS: Twenty-six infants were filmed at 3 and 4 months of age, divided into experimental group, 12 preterm infants without corrected age, and control group, 14 infants full-term. The experiment was subdivided into four conditions, namely: 1) Training (T): the investigator touched the infants' feet on the panel, raising it; 2) Baseline (B): free movements of kicks, the infant may raise or not the panel with feet, 3) Weight (W): addition of anklet weighing 1/3 the mass of lower limb, 4) Post-weight (PW): identical to B.RESULTS: Difference was found in the variable frequency of kicks, considering ages [F (5,72) = 5.620, p = 0.0035] and conditions B-W (p = 0.023) and W-PW (p < 0.001). In the variable frequency of contact difference was obtained considering conditions B-W (p = 0.002) and W-PW (p < 0.001). In the variable success in raising the panel, difference was found between groups (x2(1) = 4.341, p = 0.0013) and conditions B-W (p = 0.003), B-W (p = 0.002) and W-PW (p = 0.002) at 3 months of age. The variable length of the kick presented a difference between conditions B-W (p = 0.023) and W-PW (p = 0.010).CONCLUSION: The kicks of preterm infants differ depending on the intrinsic and extrinsic characteristics.

Preferência podal em lactentes com síndrome de Down: fatores extrínsecos e intrínsecos / Foot preference in infants with Down syndrome: extrinsic and intrinsic factors

Durante o processo de aquisição do chute em lactentes, a preferência podal pode ser influenciada de forma diferente pelos fatores extrínsecos e intrínsecos. O objetivo foi comparar a preferência podal e verificar a influência do peso adicional e do Reflexo Tônico Cervical Assimétrico (RTCA) na preferência podal entre lactentes com síndrome de Down e típicos. Participaram do estudo cinco lactentes com síndrome de Down e cinco típicos aos três e quatro meses de idade. O experimento foi subdividido em quatro condições experimentais: Treinamento, Linha de Base, Peso e Pós-Peso. Os lactentes com síndrome de Down apresentaram preferência à esquerda ou indefinida e os típicos, preferência à direita. O RTCA influenciou na preferência podal em ambos os grupos, indicando que o lado de rotação da cabeça orientou o chute do mesmo lado. Nos lactentes com síndrome de Down a correlação entre RTCA e chutes foi positiva, sendo forte aos três meses e moderada aos quatro meses. Para os lactentes típicos foi observada correlação positiva fraca aos três meses, e aos quatro meses a correlação não foi estatisticamente significativa. Lactentes com síndrome de Down apresentam preferência podal contrária aos lactentes típicos. O RTCA exerce influência na preferência podal por um período mais longo em lactentes com síndrome de Down em comparação aos lactentes típicos.

During the acquisition process of the kick in infants, foot preference may be influenced differently by extrinsic and intrinsic factors. The aim was to compare the foot preference and find the influence of additional weight and Asymmetrical Neck Tonic Reflex (ANTR) on the foot preference of infants with Down syndrome and typical ones. Five infants with Down syndrome and five typical infants at three and four months of age participated of the sudy. The experiment was divided into four experimental conditions: Training, Baseline, Weight and After Weight. Infants with Down syndrome showed preference to the left or indefinite, the typical infants showed preference to the right. ANTR influenced the foot preference in both groups, indicanting that the rotation of head side oriented the kicking for the same side. For infants with Down syndrome the correlation between ANTR and kicking was positive, with a strong positive correlation at three months of age and a moderate positive correlation at four months of age observed. For typical infants it was observed weak positive correlation at three months of age and at four months of age, the correlation was not significant. Infants with Down syndrome have foot preference contrary to typical infants. ATNR influences the foot preference for a longer period in infants with Down syndrome compared to typical infants.