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1.
BMJ Case Rep ; 14(7)2021 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-34253512

RESUMO

Neonatal Schwartz-Jampel syndrome type II is a rare and severe form of genetic disorder. Different from the classical appearance in infancy, neonatal presentation involves respiratory and feeding difficulties, along with characteristic pursed appearance of the mouth, myotonia, skeletal dysplasia and severe fatal hyperthermia. The clinical spectrum of this syndrome is so wide that it easily baffles with more common differentials. In this case report, a neonate born to third-degree consanguineous marriage with previous two abortions presented with respiratory difficulty, severe hyperthermia and feeding difficulty, which were daunting challenges to manage due to being refractory to standard line of management. Severe myotonia and gross dysmorphism were challenging dots to connect. Targeted exome sequencing was a ray of hope, which revealed homozygous mutation in the leukaemia inhibitory factor receptor gene on chromosome 5p13, confirming the genetic diagnosis for a fairly common spectrum of symptoms. The neonate later developed pneumoperitoneum and succumbed to underlying severe neonatal illness.


Assuntos
Osteocondrodisplasias , Consanguinidade , Face , Feminino , Humanos , Recém-Nascido , Hipertonia Muscular/diagnóstico , Hipertonia Muscular/genética , Mutação , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Gravidez
2.
Spinal Cord ; 59(8): 910-916, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34230603

RESUMO

STUDY DESIGN: Retrospective study of a prospective cohort of patients with traumatic spinal cord injury (SCI). OBJECTIVES: Determine the relationship between the occurrence of early spasticity, defined as the development of signs and/or symptoms of spasticity during the hospitalization in traumatology, and the functional outcome 6-12 months following a SCI. Secondly, to determine the specific impact of early clonus, velocity-dependent hypertonia and/or muscle spasms on the functional outcome at the same timepoint. SETTING: Single trauma center specialized in SCI care. METHODS: One hundred sixty-two patients sustaining an acute traumatic SCI were included in the analyses. Comparative analysis was performed to describe the characteristics of patients with early spasticity. Correlations were performed to determine the relationship between the clinical signs of spasticity and the Spinal Cord Independence Measure (SCIM) scores collected 6-12 months after SCI. RESULTS: 51.9% of the cohort developed clinical signs of spasticity during the hospitalization in traumatology (29.7 days) following SCI. These showed a significantly lower total SCIM score and subscores compared to individuals without early spasticity at follow-up (p < 0.05). After adjusting for confounding factors, the occurrence of early spasms was only clinical sign of spasticity significantly associated with a decreased mobility at follow-up (r = -0.17, p = 0.04). CONCLUSIONS: The development of signs and symptoms of spasticity, in particular the occurrence of spasms in the first month following the injury may be associated with decreased functional outcome and mobility. Early assessment of spasticity following SCI is thus recommended.


Assuntos
Traumatismos da Medula Espinal , Humanos , Hipertonia Muscular , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/etiologia , Estudos Prospectivos , Estudos Retrospectivos , Traumatismos da Medula Espinal/complicações
3.
J Sports Sci ; 39(sup1): 62-72, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34092196

RESUMO

The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate their limbs is scored by subjective clinical judgment. The lack of objective measurement renders the current test unsuitable for evidence-based classification. This study evaluated a revised version of the Para swimming assessment for motor coordination, incorporating practical, objective measures of movement smoothness, rhythm error and accuracy. Nineteen Para athletes with hypertonia and 19 non-disabled participants performed 30 s trials of bilateral alternating shoulder flexion-extension at 30 bpm and 120 bpm. Accelerometry was used to quantify movement smoothness; rhythm error and accuracy were obtained from video. Para athletes presented significantly less smooth movement and higher rhythm error than the non-disabled participants (p < 0.05). Random forest algorithm successfully classified 89% of participants with hypertonia during out-of-bag predictions. The most important predictors in classifying participants were movement smoothness at both movement speeds, and rhythm error at 120 bpm. Our results suggest objective measures of movement smoothness and rhythm error included in the current motor coordination test protocols can be used to infer impairment in Para swimmers with hypertonia. Further research is merited to establish the relationship of these measures with swimming performance.


Assuntos
Paralisia Cerebral/fisiopatologia , Hipertonia Muscular/fisiopatologia , Desempenho Psicomotor/fisiologia , Esportes para Pessoas com Deficiência/fisiologia , Natação/fisiologia , Acelerometria , Adulto , Algoritmos , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético/fisiologia , Fenômenos Biomecânicos/fisiologia , Feminino , Humanos , Masculino , Movimento/fisiologia , Hipertonia Muscular/classificação , Paratletas/classificação , Desempenho Físico Funcional , Amplitude de Movimento Articular/fisiologia , Ombro/fisiologia , Esportes para Pessoas com Deficiência/classificação , Natação/classificação , Gravação em Vídeo , Adulto Jovem
4.
Ann Ital Chir ; 92: 180-182, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34031287

RESUMO

AIM: The author proposes a new, original Syndrome, observing the relationship between some of the most frequent anal pathologies, apparently different from each other in terms of morphological aspect and symptomatologic expression, but united by the same pathogenic cause, represented by the hypertonicity of the anal sphincter apparatus. There are already descriptions of other "syndromes" of the pelvic floor, inaccurate and subject to different interpretations. The proposed syndrome, instead, called Anal Sphincter Syndrome - ASS (in Italian SSA - Sindrome dello Sfintere Anale) presents clarity on the determining cause (sphincter hypertonicity) and descriptive simplicity, including only two welldefined pathological conditions: anal fissure and anal thrombosis; other ancillary conditions or symptoms are inconstantly possible, but not decisive. The author will present, as soon as possible, in subsequent works, a retrospective study (still to be completed) on a wide personal case history, dating back to the 1990s. KEY WORDS: Anal sphincter hypertonia, Anal thrombosis, Anal fissure, Syndrome, Proctology, Somatization.


Assuntos
Canal Anal , Hipertonia Muscular , Canal Anal/fisiopatologia , Canal Anal/cirurgia , Animais , Fissura Anal/diagnóstico , Fissura Anal/etiologia , Fissura Anal/terapia , Humanos , Esfincterotomia Lateral Interna , Hipertonia Muscular/diagnóstico , Hipertonia Muscular/etiologia , Hipertonia Muscular/terapia , Estudos Retrospectivos , Síndrome , Trombose/diagnóstico , Trombose/etiologia , Trombose/terapia
5.
Comput Biol Med ; 134: 104486, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33991858

RESUMO

Spasticity is a motor disorder that affects millions around the world. It is a particular type of hypertonia characterized by the speed-dependent increase of the muscle stretch reflex, where its correct evaluation is essential for rehabilitation. The preferred method for this assessment is the Modified Ashworth Scale (MAS), a rank derived from clinical observations. Currently, few methods can quantify this disorder objectively. Tonic Stretch Reflex Threshold (TSRT) is a parameter speed-dependent obtained from electromyographic (EMG) measurements and angular signals. Therefore, the objective was to develop portable equipment for quantitative assessments of hypertonia based on TSRT. To this end, we designed an instrument composed of single-channel EMG, flexible optical goniometer, and software for the online computing of TSRT from acquired signals. The new equipment named SpES (Spasticity Evaluation System) was applied to measuring hypertonia of the biceps brachii in twenty-two participants. The experiment was performed during manual passive stretching of the affected limb at predefined speeds. The results provided by SpES presented a satisfactory coefficient of determination (0.70) and a strong correlation with MAS (0.79). In summary, while MAS depends on precise clinical observations, SpES has the TSRT quantitative method embedded for reaching an objective assessment of hypertonia in clinical practice.


Assuntos
Reflexo de Estiramento , Acidente Vascular Cerebral , Eletromiografia , Humanos , Hipertonia Muscular/diagnóstico , Espasticidade Muscular , Músculo Esquelético
6.
Toxins (Basel) ; 13(4)2021 04 16.
Artigo em Inglês | MEDLINE | ID: mdl-33923397

RESUMO

The simple definition of tone as the resistance to passive stretch is physiologically a complex interlaced network encompassing neural circuits in the brain, spinal cord, and muscle spindle. Disorders of muscle tone can arise from dysfunction in these pathways and manifest as hypertonia or hypotonia. The loss of supraspinal control mechanisms gives rise to hypertonia, resulting in spasticity or rigidity. On the other hand, dystonia and paratonia also manifest as abnormalities of muscle tone, but arise more due to the network dysfunction between the basal ganglia and the thalamo-cerebello-cortical connections. In this review, we have discussed the normal homeostatic mechanisms maintaining tone and the pathophysiology of spasticity and rigidity with its anatomical correlates. Thereafter, we have also highlighted the phenomenon of network dysfunction, cortical disinhibition, and neuroplastic alterations giving rise to dystonia and paratonia.


Assuntos
Encéfalo/fisiopatologia , Distonia/fisiopatologia , Contração Muscular , Hipertonia Muscular/fisiopatologia , Tono Muscular , Músculo Esquelético/inervação , Medula Espinal/fisiopatologia , Animais , Distonia/diagnóstico , Humanos , Hipertonia Muscular/diagnóstico , Rigidez Muscular/diagnóstico , Rigidez Muscular/fisiopatologia , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/fisiopatologia , Vias Neurais/fisiopatologia
7.
Rev. Odontol. Araçatuba (Impr.) ; 42(1): 49-53, jan.-abr. 2021. graf, tab
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-1252876

RESUMO

Objetivo: Objetivou-se investigar as possíveis relações entre as Disfunções Temporomandibulares com alterações do Sistema Vestibular (SV). Métodos: Estudo descritivo com abordagem quantitativa realizado em 09 pacientes com idade média entre 18 e 40 anos. Os participantes foram recrutados no grupo de estudo e pesquisa em Fisioterapia e Odontologia na Dor Orofacial (FISIODOF) da Universidade de Fortaleza. O presente estudo foi aprovado pelo comitê de ética, com parecer N° 1.310.583. Resultados: De acordo com o RDC/TMD, 3 casos são do grupo G1, 1 caso é do grupo G2, 1 casos é do grupo G1 e G2, e os outros 4 casos como grupos G1 e G3. Todos os pacientes apresentaram resultados negativo no teste de Fukuda. Já na Manobra de Dix-Hallpike 3 pacientes apresentaram resultado positivo. Discussão: A hipertonia muscular é descrita como principal responsável pelos sintomas auditivos e vestibulares de pacientes com DTM. Entretanto, não existe uma relação precisa descrita na literatura entre DTM e disfunção do sistema vestibular. Conclusão: A DTM pode causar alterações no sistema vestibular, explicadas pelo fato das estruturas da articulação temporomandibular e sistema vestibular serem anatomicamente próximas. No entanto, outras pesquisas se fazem necessárias para caracterizar os achados vestibulares em portadores de disfunção temporomandibular(AU)


Objective: The objective was to investigate the possible relationships between Temporomandibular Disorders with changes in the Vestibular System (SV). Methods: Descriptive study with a quantitative approach conducted in 09 patients with a mean age between 18 and 40 years. Participants were recruited from the study and research group in Physiotherapy and Dentistry in Orofacial Pain at the University of Fortaleza. This study was approved by the ethics committee, No. 1,310,583. Results: According to the RDC / TMD, 3 cases are from the G1 group, 1 case is from the G2 group, 1 case are from the G1 and G2 group, and the 4 other cases are from the G1 and G3 groups. All patients had a negative Fukuda test result. In the Dix-Hallpike maneuver, 3 patients had a positive result. Discussion: Muscular hypertonia is described as the main responsible for the auditory and vestibular symptoms of patients with TMD. However, there is no precise relationship described in the literature between TMD and vestibular system dysfunction. Conclusion: TMD can cause changes in the vestibular system, explained by the fact that the structures of the temporomandibular joint and the vestibular system are anatomically close. However, further research is necessary to characterize vestibular findings in patients with temporomandibular disorders(AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Dor Facial , Síndrome da Disfunção da Articulação Temporomandibular , Vestíbulo do Labirinto , Articulação Temporomandibular , Transtornos da Articulação Temporomandibular , Especialidade de Fisioterapia , Hipertonia Muscular
8.
Pediatr. aten. prim ; 23(89): 71-74, ene.-mar. 2021.
Artigo em Espanhol | IBECS | ID: ibc-202616

RESUMO

El síndrome neuroléptico maligno es una urgencia pediátrica con una elevada morbimortalidad, relacionada con alteración de sistema de neurotransmisión dopaminérgico. Se caracteriza por hipertermia junto con hipertonía muscular, alteración autonómica y de los niveles de conciencia. Un diagnóstico precoz es imprescindible para prevenir complicaciones comunes como la broncoaspiración, desgaste, escaras, procesos infecciosos y cambios neuropsiquiátricos. El tratamiento debe incluir en medidas generales de soporte y terapéutica farmacológica sintomática. Pese a que la mayoría de los casos descritos corresponden a población adulta, también se ha descrito en niños y adolescentes. Presentamos un caso de síndrome neuroléptico maligno en un adolescente de 12 años con encefalopatía y tetraparesia espática secundario al cese de la administración de baclofeno


Neuroleptic malignant syndrome is a pediatric emergency with high morbidity and mortality, related to an alteration of the dopaminergic neurotransmission system. It is characterized by hyperthermia along with muscular hypertonia, dysautonomia, and altered level of consciousness. An early diagnosis is essential to prevent common complications such as bronchoaspiration, wear, bedsores, infectious processes, and neuropsychiatric changes. Treatment should include general support measures and symptomatic pharmacological therapy. Although most of the cases described correspond to the adulthood, it has also been described in children and adolescents. We present a case of neuroleptic malignant syndrome in a 12-year-old adolescent with encephalopathy and spastic tetraparesis secondary to the cessation of baclofen administration


Assuntos
Humanos , Masculino , Criança , Síndrome Maligna Neuroléptica/diagnóstico por imagem , Síndrome Maligna Neuroléptica/terapia , Quadriplegia/complicações , Hidratação/métodos , Medicina de Emergência Pediátrica/métodos , Diagnóstico Precoce , Encefalopatias , Gastrostomia/métodos , Leucocitose/complicações , Unidades de Terapia Intensiva Pediátrica , Hipertonia Muscular/tratamento farmacológico , Combinação Amoxicilina e Clavulanato de Potássio/uso terapêutico , Baclofeno/administração & dosagem
9.
Plast Reconstr Surg ; 147(3): 455-465, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33587557

RESUMO

BACKGROUND: Depressor anguli oris muscle hypertonicity in synkinetic facial paralysis patients may have an overpowering antagonistic effect on facial symmetry. Depressor anguli oris muscle block is a crucial diagnostic test before any treatment planning. Presented is the largest patient cohort analysis to date on static and dynamic facial symmetry changes after depressor anguli oris muscle block. METHODS: Unilateral synkinetic patients with depressor anguli oris muscle hypertonicity were included. Resting symmetry and smile modiolus angle, excursion, and exposure of teeth were measured on both synkinetic and healthy hemifaces before and after depressor anguli oris muscle block using Emotrics and FaceGram photographic analyses. RESULTS: Thirty-six patients were included. Before depressor anguli oris block, resting modiolus height was elevated on the synkinetic side (p = 0.047). During open-mouth smile, reduced modiolus angle (p < 0.0001), modiolus excursion (p < 0.0001), and exposure of teeth (p < 0.0001) were observed on the synkinetic hemiface. After depressor anguli oris block, resting modiolus height became symmetric (p = 0.64). During open-mouth smile, modiolus angle and exposure of teeth significantly increased (both p < 0.0001); excursion did not improve on the synkinetic side (p = 0.13) but unexpectedly improved in open-mouth smile on the healthy side (p = 0.0068). CONCLUSIONS: Depressor anguli oris muscle block improved resting symmetry and modiolus angle and exposure of teeth during smile, demonstrating the inhibitory mimetic role of a hypertonic depressor anguli oris muscle in synkinesis. It is a critical diagnostic and communication tool in the assessment and treatment planning of depressor anguli oris muscle hypertonicity, suggesting the potential effects of future depressor anguli oris myectomy. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Assimetria Facial/tratamento farmacológico , Músculos Faciais/fisiopatologia , Paralisia Facial/fisiopatologia , Hipertonia Muscular/tratamento farmacológico , Bloqueio Neuromuscular/métodos , Sincinesia/etiologia , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Assimetria Facial/etiologia , Expressão Facial , Músculos Faciais/efeitos dos fármacos , Paralisia Facial/diagnóstico , Paralisia Facial/cirurgia , Feminino , Humanos , Injeções Intramusculares , Lidocaína/farmacologia , Lidocaína/uso terapêutico , Masculino , Pessoa de Meia-Idade , Hipertonia Muscular/etiologia , Bloqueadores Neuromusculares/farmacologia , Bloqueadores Neuromusculares/uso terapêutico , Cuidados Pré-Operatórios/métodos , Estudos Retrospectivos , Sorriso , Resultado do Tratamento , Adulto Jovem
10.
Dev Neurorehabil ; 24(5): 296-302, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33393410

RESUMO

Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cross-sectional observational study involving 96 children (55 males) with CZS at a mean (SD) age 35.2 ± 2.9 months. Children's muscle tone was investigated using the pull to sit, scarf sign, shoulder suspension and ventral suspension tests and the modified Ashworth scale (MAS). Motor impairment was determined using the Gross Motor Function Classification System (GMFCS) and body segments most affected with motor impairment.Results: 58 (60,5%) children tested positive for ≥1 maneuver used to evaluate muscle tone, while 38 (39.5%) tested negative in all the tests. MAS score was >0 for at least one of the appendicular muscles in 91 children (94.8%). In 88 children (91.7%), all four limbs were affected.Conclusion: Findings suggestive of axial hypotonia and appendicular hypertonia associated with severe motor impairment were prevalent in children with CZS.


Assuntos
Hipertonia Muscular/fisiopatologia , Hipotonia Muscular/fisiopatologia , Quadriplegia/fisiopatologia , Infecção por Zika virus/fisiopatologia , Pré-Escolar , Estudos Transversais , Extremidades/fisiopatologia , Feminino , Humanos , Masculino , Hipertonia Muscular/diagnóstico , Hipotonia Muscular/diagnóstico , Tono Muscular , Índice de Gravidade de Doença , Tronco/fisiopatologia , Zika virus , Infecção por Zika virus/classificação , Infecção por Zika virus/congênito
11.
World J Surg ; 45(4): 1210-1221, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33481084

RESUMO

BACKGROUND: Treatment of anismus usually starts with biofeedback therapy and injection of botulinum toxin in the puborectalis muscle (PRM). Patients refractory to conservative treatment may require surgery. The present cohort study aimed to assess a combined technique of partial division of PRM and tailored lateral internal sphincterotomy (LIS) in treatment of anismus. METHODS: Patients with anismus who failed conservative treatments were assessed clinically and with high-resolution anal manometry (HRAM), EMG, defecography, and underwent combined partial division of PRM on one side and tailored LIS on the contralateral side. Main outcome measures were improvement in symptoms and quality of life, changes in HRAM and defecography postoperatively, complications, and patient satisfaction. RESULTS: A total of 73 patients (61 male) of a mean age of 37 years were included to the study. In total, 89% of patients showed a significant improvement in symptoms at 12 months postoperatively. The mean modified Altomare score decreased significantly (p < 0.0001) from 16.4 ± 1.7 to 6.6 ± 1 at 12 months postoperatively. There was a significant increase in the mental and physical components of quality of life at 12 months postoperatively. The numbers of patients with positive findings of anismus in postoperative defecography, EMG, and balloon expulsion test were significantly less than before surgery. The mean total satisfaction score was 86.5 ± 8.7. Five (6.5%) patients developed minor complications. CONCLUSION: Partial division of puborectalis muscle combined with LIS is an effective technique in the management of anal hypertonia-associated anismus with satisfactory results and low incidence of complications.


Assuntos
Esfincterotomia Lateral Interna , Adulto , Canal Anal/diagnóstico por imagem , Canal Anal/cirurgia , Estudos de Coortes , Constipação Intestinal , Defecação , Humanos , Masculino , Manometria , Hipertonia Muscular/etiologia , Diafragma da Pelve , Qualidade de Vida , Resultado do Tratamento
12.
J Sports Sci ; 39(sup1): 159-166, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33337948

RESUMO

RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled frame that has a saddle, handle bars and a chest plate. For RaceRunning to be included as a para athletics event, an evidence-based classification system is required. This study assessed the impact of trunk control and lower limb impairment measures on RaceRunning performance and evaluated whether cluster analysis of these impairment measures produces a valid classification structure for RaceRunning. The Trunk Control Measurement Scale (TCMS), Selective Control Assessment of the Lower Extremity (SCALE), the Australian Spasticity Assessment Scale (ASAS), and knee extension were recorded for 26 RaceRunning athletes. Thirteen male and 13 female athletes aged 24 (SD = 7) years participated. All impairment measures were significantly correlated with performance (rho = 0.55-0.74). Using ASAS, SCALE, TCMS and knee extension as cluster variables in a two-step cluster analysis resulted in two clusters of athletes. Race speed and the impairment measures were significantly different between the clusters (p < 0.001). The findings of this study provide evidence for the utility of the selected impairment measures in an evidence-based classification system for RaceRunning athletes.


Assuntos
Ataxia/classificação , Atetose/classificação , Hipertonia Muscular/classificação , Corrida/classificação , Esportes para Pessoas com Deficiência/classificação , Tronco/fisiopatologia , Adolescente , Adulto , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético , Lesão Encefálica Crônica/classificação , Lesão Encefálica Crônica/fisiopatologia , Paralisia Cerebral/classificação , Paralisia Cerebral/fisiopatologia , Análise por Conglomerados , Desenho de Equipamento , Feminino , Humanos , Articulação do Joelho/fisiopatologia , Extremidade Inferior/fisiopatologia , Masculino , Hipertonia Muscular/fisiopatologia , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia , Força Muscular , Amplitude de Movimento Articular/fisiologia , Corrida/fisiologia , Equipamentos Esportivos , Esportes para Pessoas com Deficiência/fisiologia , Adulto Jovem
13.
Low Urin Tract Symptoms ; 13(1): 5-12, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32654386

RESUMO

Chronic pelvic pain (CPP) is an extremely bothersome condition which leads to major effects in women's everyday life. In addition to visceral sources of pain, pelvic floor dysfunction including myofascial pain and spasm on the pelvic floor muscles causing hypertonicity are causes often overlooked. Injecting botulinum toxin type A (BoNT-A) into hypertonic pelvic floor muscles may aid the relaxation of pelvic floor musculature. The muscles that are injected in CPP treatment include the obturator internus, levator ani (pubococcygeus, iliococcygeus, and puborectalis), and coccygeus. Generally, injections can be performed tolerably with safety under conscious sedation combined with local anesthesia. Most practitioners perform BoNT-A injection of pelvic floor muscles using anatomical landmarks identified by manual palpation only. For the precise location of injection sites, some needle guidance techniques were proposed, including electromyography, electrical stimulation, ultrasound, fluoroscopy, and/or computed tomography. Side effects of BoNT-A injection in CPP are rare and self-limiting. Because of the reversible nature of BoNT-A, reinjection appears to be necessary. Increasing proof points out that BoNT-A is a promising treatment option for CPP in women. We conducted a review of published literature in Pubmed, using chronic pelvic pain in women, hypertonic pelvic floor, and botulinum toxin as the keywords. This article aims to summarize the treatment techniques and results of BoNT-A injection for hypertonic pelvic floor in women with chronic pelvic pain.


Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Hipertonia Muscular/tratamento farmacológico , Dor Pélvica/tratamento farmacológico , Toxinas Botulínicas Tipo A/administração & dosagem , Dor Crônica/tratamento farmacológico , Feminino , Humanos , Injeções Intramusculares , Diafragma da Pelve/fisiopatologia
14.
Updates Surg ; 73(4): 1575-1581, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32666478

RESUMO

Chronic anal fissure's (CAF) etiopathogenesis remain unclear. CAF of the posterior commissure (CAPF) are often characterized by internal anal sphincter (IAS) hypertonia. The treatment of this disease aimed to reduce IAS hypertonia. Due to the high rate of anal incontinence after LIS, the employment of sphincter preserving surgical techniques associated to pharmacological sphincterotomy appears more sensible. The aim of our study is to evaluate the long-term results of fissurectomy and anoplasty with V-Y cutaneous flap advancement associated to 30 UI of botulinum toxin injection for CAPF with IAS hypertonia. We enrolled 45 patients undergone to fissurectomy and anoplasty with V-Y cutaneous flap advancement and 30 UI botulinum toxin injection. All patients were followed up for at least 5 years after the surgical procedure, with evaluation of anal continence, recurrence rate and MRP (Maximum resting pressure), MSP (Maximum restricting pressure), USWA (Ultrasound wave activity). All patients healed within 40 days after surgery. We observed 3 "de novo" post-operative anal incontinence cases, temporary and minor; the pre-operative ones have only temporary worsened after surgery. We reported 3 cases of recurrences, within 2 years from surgery, all healed after conservative medical therapy. At 5 year follow-up post-operative manometric findings were similar to those of healthy subjects. At 5 years after the surgical procedure, we achieved good results, and these evidences show that surgical section of the IAS is not at all necessary for the healing process of the CAPF.


Assuntos
Toxinas Botulínicas , Fissura Anal , Canal Anal/cirurgia , Doença Crônica , Fissura Anal/complicações , Fissura Anal/tratamento farmacológico , Fissura Anal/cirurgia , Humanos , Hipertonia Muscular/tratamento farmacológico , Estudos Prospectivos , Resultado do Tratamento
15.
J Clin Pharmacol ; 60 Suppl 2: S110-S120, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33274514

RESUMO

This systematic review evaluates the efficacy of intravaginal diazepam in treating chronic pelvic pain and sexual dysfunction associated with high-tone pelvic floor dysfunction. A literature search was conducted in Medline and Web of Science, including articles from the database's inception to July 2019. The search identified 126 articles, and 5 articles met study inclusion criteria: 2 observational reviews and 3 small randomized, controlled trials (RCTs) evaluating intravaginal diazepam for high-tone pelvic floor dysfunction. The 2 observational studies identified subjective reports of improvement in sexual function for a majority of women, 96% and 71%, in each study. However, there were no statistical differences between Female Sexual Function Index (FSFI) and Visual Analog Scale (VAS) scores for pain identified. One RCT found no significant changes between groups in median FSFI or VAS scores, and a second RCT found no significant changes between groups in 100-mm VAS scores. The third RCT demonstrated that compared with placebo, treatment with transcutaneous electrical nerve stimulation and intravaginal diazepam for women with vestibulodynia and high-tone pelvic floor dysfunction yielded significant differences in reduction of dyspareunia (P ≤ .05), ability to relax pelvic floor muscles after contraction (P ≤.05), and current perception threshold values at a 5-Hz stimulation related to C fibers (P < .05), but no significant changes in 10-cm VAS scores. Intravaginal diazepam may be helpful in women with a specific diagnosis of high-tone pelvic floor dysfunction, but more and larger studies are needed to confirm these potential effects.


Assuntos
Diazepam/administração & dosagem , Diazepam/efeitos adversos , Moduladores GABAérgicos/administração & dosagem , Moduladores GABAérgicos/efeitos adversos , Hipertonia Muscular/tratamento farmacológico , Distúrbios do Assoalho Pélvico/tratamento farmacológico , Diafragma da Pelve/fisiopatologia , Administração Intravaginal , Feminino , Humanos , Uso Off-Label , Dor Pélvica/tratamento farmacológico , Disfunções Sexuais Fisiológicas/tratamento farmacológico
16.
Aging (Albany NY) ; 13(1): 1176-1185, 2020 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-33290257

RESUMO

5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare hereditary disease characterized by defects in folate and homocysteine metabolism. Individuals with inherited MTHFR gene mutations have a higher tendency to develop neurodegeneration disease as Alzheimer' disease and atherosclerosis. MTHFR is a rate-limiting enzyme catalyzing folate production, various SNPs/mutations in the MTHFR gene have been correlated to MTHFR deficiency. However, the molecular mechanisms underpinning the pathogenic effects of these SNPs/mutations have not been clearly understood. In the present study, we reported a severe MTHFR deficiency patient with late-onset motor dysfunction and sequenced MTHFR gene exons of the family. The patient carries an MD-associating SNP (rs748289202) in one MTHFR allele and the rs545086633 SNP with unknown disease relevance in the other. The rs545086633 SNP (p.Leu439Pro) results in an L439P substitution in MTHFR protein, and drastically decreases mutant protein expression by promoting proteasomal degradation. L439 in MTHFR is highly conserved in vertebrates. Our study demonstrated that p.Leu439Pro in MTHFR is the first mutation causing significant intracellular defects of MTHFR, and rs545086633 should be examined for the in-depth diagnosis and treatment of MD.


Assuntos
Homocistinúria/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/genética , Adolescente , Alelos , Ataxia/fisiopatologia , Baclofeno/uso terapêutico , Encéfalo/diagnóstico por imagem , Disfunção Cognitiva/fisiopatologia , Feminino , Ácido Fólico/análogos & derivados , Ácido Fólico/uso terapêutico , Homocistinúria/diagnóstico , Homocistinúria/tratamento farmacológico , Homocistinúria/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Metionina/uso terapêutico , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Hipertonia Muscular/tratamento farmacológico , Hipertonia Muscular/fisiopatologia , Relaxantes Musculares Centrais/uso terapêutico , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/tratamento farmacológico , Espasticidade Muscular/fisiopatologia , Mutação de Sentido Incorreto , Condução Nervosa , Polimorfismo de Nucleotídeo Único , Complexo de Endopeptidases do Proteassoma , Proteólise , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/genética , Transtornos Psicóticos/fisiopatologia , Reflexo Anormal/fisiologia , Coluna Vertebral/diagnóstico por imagem , Vitamina B 12/uso terapêutico , Complexo Vitamínico B/uso terapêutico
17.
J Alzheimers Dis ; 78(4): 1615-1637, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33185600

RESUMO

BACKGROUND: Paratonia is a dementia-induced motor abnormality. Although paratonia affects virtually all people with dementia, it is not well known among clinicians and researchers. OBJECTIVE: The aim of this study was to perform a systematic review of the literature on the definition, pathogenesis, diagnosis, and intervention of paratonia as well as to propose a research agenda for paratonia. METHODS: In this systematic review, the Embase, PubMed, CINAHL, and Cochrane CENTRAL databases were searched for articles published prior to December 2019. Two independent reviewers performed data extraction and assessed the risk of bias of the studies. The following data were extracted: first author, year of publication, study design, study population, diagnosis, assessment, pathogenesis, therapy and interventions. RESULTS: Thirty-five studies met the inclusion criteria and were included. Most studies included in the review mention clinical criteria for paratonia. Additionally, pathogenesis, method of assessment, diagnosis, and paratonia severity as are interventions to address paratonia are also discussed. CONCLUSION: This systematic review outlines what is currently known about paratonia, as well as discusses the preliminary research on the underlying mechanisms of paratonia. Although paratonia has obvious devastating impacts on health and quality of life, the amount of research to date has been limited. In the last decade, there appears to have been increased research on paratonia, which hopefully will increase the momentum to further advance the field.


Assuntos
Demência/fisiopatologia , Rigidez Muscular/fisiopatologia , Progressão da Doença , Humanos , Hipertonia Muscular/diagnóstico , Hipertonia Muscular/fisiopatologia , Rigidez Muscular/diagnóstico , Qualidade de Vida
18.
Chirurgia (Bucur) ; 115(5): 585-594, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33138895

RESUMO

PURPOSE: The role of augmented internal anal sphincter (IAS) tone in the genesis of posterior chronic anal fissure (CAPF) is still unknown. Lateral internal sphincterotomy is the most employed surgical procedure, nevertheless it is burdened by high risk post-operative anal incontinence. The aim of our study is to evaluate results of sphincter saving procedure with post-operative pharmacological sphincterotomy for patients affected by CAPF with IAS hypertonia. Methods: We enrolled 30 patients, undergone fissurectomy and anoplasty with V-Y cutaneous flap advancement; all patients received topical administration of nifedipine 0.3% and lidocaine 1.5% ointment-based therapy before and for 15 days after surgery. The primary goal was patient's complete healing and the evaluation of incontinence and recurrence rate; the secondary goal included the evaluation of manometry parameters, symptom relief and complications related to nifedipine and lidocaine administration. Results: All wounds healed within 40 days after surgery. We didn't observe any de novo postoperative anal incontinence case. We reported 2 cases of recurrences, healed after conservative therapy. We didn't report any local complications related to the administration of the ointment therapy; with whom all patients reported a good compliance. Conclusions: Fissurectomy and anoplasty with V-Y cutaneous advancement flap and topical administration of nifedipine and lidocaine, is an effective treatment for CAPF with IAS hypertonia.


Assuntos
Canal Anal/efeitos dos fármacos , Bloqueadores dos Canais de Cálcio/administração & dosagem , Fissura Anal , Hipertonia Muscular/tratamento farmacológico , Nifedipino , Administração Tópica , Canal Anal/cirurgia , Anestésicos Locais/administração & dosagem , Doença Crônica , Terapia Combinada , Fissura Anal/complicações , Fissura Anal/tratamento farmacológico , Fissura Anal/cirurgia , Humanos , Lidocaína , Hipertonia Muscular/complicações , Hipertonia Muscular/cirurgia , Nifedipino/administração & dosagem , Pomadas/administração & dosagem , Estudos Prospectivos , Retalhos Cirúrgicos , Resultado do Tratamento
19.
Exp Brain Res ; 238(12): 2909-2919, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33063171

RESUMO

It is unclear whether muscle coactivation during gait is altered early after stroke and among which muscles. We sought to characterize muscle coactivation during gait in subacute stroke subjects without hypertonia and explore the relationship with temporospatial parameters. In 70 stroke (23 ± 12 days post-onset) and 29 age-matched healthy subjects, surface electromyography signals were used to calculate coactivation magnitude and duration between rectus femoris and medial hamstring (knee antagonistic coactivation), tibialis anterior and medial gastrocnemius (ankle antagonistic coactivation), and rectus femoris and medial gastrocnemius (extensor synergistic coactivation) during early double-support (DS1), early single-support (SS1), late single-support (SS2), late double-support (DS2), and swing (SW). Compared to both free and very-slow speeds of controls, stroke subjects had bilaterally decreased ankle coactivation magnitude in SS2 and duration in SS1 and SS2 as well as increased extensor coactivation magnitude in DS2 and SW. Both non-paretic knee and ankle coactivation magnitudes in SS2 moderately correlated with most temporospatial parameters (|r| ≥ 0.40). Antagonistic and synergistic coactivation patterns of the knee and ankle muscles during gait are altered bilaterally in subacute stroke subjects without lower limb hypertonia suggesting impairments in motor control. Greater coactivation magnitudes in the non-paretic knee and both ankles during the terminal stance (SS2) are associated with the overall worse gait performance. Unlike previously reported excessive coactivation or no change in chronic stroke, bilaterally decreased and increased coactivation patterns are present in subacute stroke. These findings warrant longitudinal studies to examine the evolution of changes in muscle coactivation from subacute to chronic stroke.


Assuntos
Tornozelo , Acidente Vascular Cerebral , Eletromiografia , Marcha , Humanos , Hipertonia Muscular/etiologia , Músculo Esquelético , Acidente Vascular Cerebral/complicações
20.
PLoS One ; 15(10): e0240905, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33064777

RESUMO

The abuse of prescription opioids and heroin by women of childbearing age over the past decade has resulted in a five-fold increase in the number of infants born opioid-dependent. Daily opioid substitution treatment with methadone is associated with less maternal illicit opioid use and improved antenatal care. However, research on the neurobehavioral effects of daily prenatal exposure to methadone on the infant is limited. Using the NICU Network Neurobehavioral Scale (NNNS), we compared the neurobehavior at birth of 86 infants born to opioid-dependent mothers receiving methadone treatment (MMT) with 103 infants unexposed to methadone. Generalized linear models, adjusted for covariates, showed methadone exposed infants had significantly poorer attention, regulation, and quality of movement. They were also significantly more excitable, more easily aroused, exhibited more non-optimal reflexes, hypertonicity, and total signs of stress abstinence. Maternal MMT was also associated with more indices of neonatal abstinence, including: CNS, visual, genitourinary (GI), and state. Latent profile analysis of the NNNS summary scores revealed four distinct neurobehavioral profiles with infants characterized by the most disturbed neurobehavior at birth having the poorest clinical outcomes at birth, and poorer cognitive and motor development at 24 months of age.


Assuntos
Analgésicos Opioides/uso terapêutico , Desenvolvimento Infantil/fisiologia , Comportamento do Lactente/fisiologia , Metadona/uso terapêutico , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico , Adulto , Analgésicos Opioides/efeitos adversos , Analgésicos Opioides/farmacologia , Atenção , Estudos de Casos e Controles , Feminino , Humanos , Lactente , Modelos Lineares , Masculino , Exposição Materna , Metadona/efeitos adversos , Metadona/farmacologia , Hipertonia Muscular/patologia , Síndrome de Abstinência Neonatal/diagnóstico , Tratamento de Substituição de Opiáceos , Transtornos Relacionados ao Uso de Opioides/patologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/etiologia , Psicometria
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