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1.
Nat Commun ; 12(1): 5008, 2021 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-34429436

RESUMO

Capabilities for continuous monitoring of pressures and temperatures at critical skin interfaces can help to guide care strategies that minimize the potential for pressure injuries in hospitalized patients or in individuals confined to the bed. This paper introduces a soft, skin-mountable class of sensor system for this purpose. The design includes a pressure-responsive element based on membrane deflection and a battery-free, wireless mode of operation capable of multi-site measurements at strategic locations across the body. Such devices yield continuous, simultaneous readings of pressure and temperature in a sequential readout scheme from a pair of primary antennas mounted under the bedding and connected to a wireless reader and a multiplexer located at the bedside. Experimental evaluation of the sensor and the complete system includes benchtop measurements and numerical simulations of the key features. Clinical trials involving two hemiplegic patients and a tetraplegic patient demonstrate the feasibility, functionality and long-term stability of this technology in operating hospital settings.


Assuntos
Técnicas Biossensoriais/métodos , Fontes de Energia Elétrica , Pressão , Temperatura , Tecnologia sem Fio , Adulto , Idoso , Idoso de 80 Anos ou mais , Técnicas Biossensoriais/instrumentação , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica , Pele , Termografia/instrumentação , Termografia/métodos
2.
Medicina (Kaunas) ; 57(5)2021 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-33922887

RESUMO

Background and Objectives: To find the differences in ocular axial length, keratometric measurements, and intraocular lens (IOL) power in patients with Graves' disease (GD) after treatment with a thionamide antithyroid drug (ATD), methimazole. Materials and Methods: The medical charts of 28 patients (4 males and 24 females; mean age: 47.2 ± 21.2 years) were studied. Each patient was examined twice using an IOL Master Device and keratometry at the first visit (before ATD treatment) and after 1 month of ATD treatment. The IOL power was calculated for each patient using the Hoffer Q, SRK-2, and SRK/T formulas according to axial length. Results: After 1 month, the axial length increased (right and left eyes: p < 0.001 and p = 0.05, respectively). Based on keratometry, changes in the horizontal and vertical optical power [in diopters (D)] were not statistically significant. However, the IOL power changed after 1 month of ATD treatment in 64.3% of the patients. In 14 patients (50%), there was a 0.5-1.0 D IOL power decrease in single eyes; in two patients (7.1%), an IOL power decrease of 0.5-1.0 D in both eyes; and in two patients (7.1%), a 0.5 D IOL power increase in single eyes. The calculated IOL power values were lower after ATD treatment (right and left eyes, p = 0.010 and p = 0.018, respectively). Conclusions: The IOL power changed in 64.3% of GD patients after ATD treatment. Therefore, avoiding cataract surgery at the early stage of ATD treatment would be appropriate for selecting a more accurate IOL power.


Assuntos
Doença de Graves , Lentes Intraoculares , Facoemulsificação , Adulto , Idoso , Antitireóideos/uso terapêutico , Feminino , Doença de Graves/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Refração Ocular , Estudos Retrospectivos
3.
Ann Rehabil Med ; 44(1): 90-93, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32130843

RESUMO

We report two cases of postictal urinary retention in pediatric patients with cognitive impairment. Two girls with intellectual disabilities, concomitant cerebral palsy (case 1) and Rett syndrome (case 2), developed urinary retention following seizures. Their caregivers brought them to the hospital with complaints of abdominal distension. After excluding neurological progression, they were referred to the rehabilitation clinic for the evaluation and management of postictal urinary retention. We followed two different approaches in each case to restore normal urination. While serial manual cystometrograms were performed in case 1, clean intermittent catheterization with a voiding diary was performed in case 2 until restoration of normal urination. Based on these pediatric cases of successfully managed postictal urinary retention, we suggest that more attention may be needed for children with cognitive impairment to diagnose and manage postictal urinary retention.

4.
J Clin Densitom ; 23(1): 53-62, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30143440

RESUMO

INTRODUCTION: This study aimed to compare the performance of dual-energy X-ray absorptiometry (DXA) and quantitative computed tomography (QCT) in evaluating bone mineral density (BMD) of patients with Duchenne muscular dystrophy and scoliosis. METHODOLOGY: Twenty-nine participants (mean age 19.72 ± 6.13 years) underwent whole spine radiography, DXA before and after traction, and QCT alone without traction. Scoliosis and vertebral rotation angles obtained before and after traction were compared, and BMD values from DXA were compared to those obtained via QCT. The scoliosis angle, presented as Cobb's angle of L1-L4, was measured. RESULTS: Cobb's angle significantly decreased from 30.38° ± 24.83° before traction to 22.78° ± 20.41° after traction (p < 0.0001) and the Z-score decreased from -1.88 ± 1.59 to -2.86 ± 2.16 (p < 0.0001). Changes in rotation angle, BMD, and bone mineral content were not significant. Post-traction BMD values and Z-scores showed a higher correlation with QCT measurements than pretraction. Moreover, pre and post-traction Z-scores (≤-1.1 and -1.36, respectively) were more accurate in identifying patients with osteoporosis according to QCT scans compared with the preexisting Z-score of -2 or less. CONCLUSION: Lumbar BMD measured via DXA and scoliosis allowed a more accurate diagnosis of osteoporosis when traction was applied.

5.
J Pediatr Orthop B ; 29(1): 29-34, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31361705

RESUMO

The aim of this study was to assess the angular components of the affected foot associated with valgus deformity of the unaffected foot and to redefine the actual leg-length inequality in unilateral cerebral palsy. We retrospectively reviewed the medical records and radiologic images of 76 patients with unilateral cerebral palsy. Weight-bearing plain radiography of both feet of each subject was obtained. Angular measurements focused on the collapse of the longitudinal arch, hind foot valgus and forefoot abduction. Patients were divided into two groups: with and without valgus deformity of the unaffected side. Leg-length discrepancy and pelvic obliquity angle were measured Among 76 patients, 40 (52%) had valgus deformities of the unaffected side. Independent t-test revealed no significant differences in age, affected side, type of deformity on the affected side, or application of bilateral biomechanical foot orthosis between patients with or without valgus deformity of the unaffected side. Patients with valgus deformity had significantly increased voluntary ankle dorsiflexion greater than neutral on the affected side, leg-length discrepancy and lateral talocalcaneal angle (P < 0.05). Laterally measured foot angles of both feet were significantly correlated. The optimal cut-off points for predicting valgus deformity were leg-length discrepancy >10 mm or affected limb/unaffected limb-length index <0.98. Leg-length discrepancy and lateral talocalcaneal angle of the affected foot were significantly increased in patients with valgus deformity of the unaffected side. The optimal cut-off point for predicting valgus deformity of the unaffected foot would be useful in clinical practice.


Assuntos
Paralisia Cerebral/complicações , Hallux Valgus/etiologia , Radiografia/métodos , Suporte de Carga/fisiologia , Paralisia Cerebral/reabilitação , Criança , Pré-Escolar , Feminino , Hallux Valgus/diagnóstico , Hallux Valgus/fisiopatologia , Humanos , Imageamento Tridimensional , Masculino , Estudos Retrospectivos
6.
Mol Genet Genomic Med ; 7(3): e532, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30569584

RESUMO

BACKGROUND: The clinical spectrum of Rett syndrome (RTT; Mendelian Inheritance in Man [MIM] #312750) in males is considered to be wider than previously expected. Therefore, the existence of RTT with a normal male karyotype is still controversial. Here, we report the first case of a male patient presenting with an early seizure type of Rett-like phenotypes with a missense variant of MECP2. METHOD: An 8-month-old male was admitted to the pediatric department due to an initial seizure event following aspiration pneumonia and was referred to our clinic for the evaluation of unexplained neuroregression. Genomic DNA was prepared from venous blood by standard procedures and was processed at the Yale Center for Genome Analysis (YCGA) for whole exome sequencing (WES). Processing of sequence data, variant calling, and the identification of de novo mutations were then performed. Direct Sanger sequencing was performed following PCR amplification. RESULT: In this patient with a normal karyotype, WES analysis led to the identification of a novel, de novo missense variant of MECP2 (p.Arg133His) that is not observed in the normal population. CONCLUSION: This rare case of an p.Arg133His hemizygous MECP2 missense mutation could guide future treatment and follow-up plans for RETT-like phenotypes.


Assuntos
Proteína 2 de Ligação a Metil-CpG/genética , Mutação de Sentido Incorreto , Síndrome de Rett/genética , Humanos , Lactente , Masculino , Proteína 2 de Ligação a Metil-CpG/metabolismo , Fenótipo , Síndrome de Rett/patologia
7.
Ann Rehabil Med ; 43(6): 720-724, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31918534

RESUMO

A 43-year-old woman suffered from drooling and dysphagia after a stroke in the left posterior inferior cerebellar artery territory. Videofluoroscopic swallowing study showed compatible findings of cricopharyngeal dysphagia. Despite the injection of botulinum neurotoxin, no symptom improvement was achieved and pharyngeal dystonia was considered as the cause. Medications for dystonia dramatically helped with saliva control and resulted in a small improvement in the progression of food from the pharyngeal to esophageal phase. After adjusting the drug dose, the patient was able to perform social activities without drooling. Moreover, she could consume food orally; however, this was limited to small amounts of liquid, and the main method of nutrition support was via an orogastric tube. Therefore, we suggest that physicians should make a differential diagnosis of combined dystonia in patients complaining of dysphagia by esophageal manometry and electromyography.

8.
Neuro Endocrinol Lett ; 39(3): 189-195, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30431744

RESUMO

OBJECTIVES: In the subjects with high cervical spinal cord injury (SCI), The difference of respiratory muscle strength and pulmonary function according to supine and sitting position were investigated whether there are changes in the tendency. METHODS: Twenty-three subjects with high cervical SCI and 23 subjects with low cervical and thoracic SCI were evaluated. The reference neurological level of injury for dividing the groups was fifth cervical vertebrae (C5). SCI severity was classified as motor-complete SCI. The supine and sitting forced vital capacity (FVC), percent of the predicted FVC (FVC%), maximal expiratory pressure (MEP), maximal inspiratory pressure (MIP), MEP / MIP ratio, and peak cough flow (PCF) were compared. RESULTS: The significantly higher FVC, FVC% in the low cervical and thoracic SCI group was identified in the supine position than the sitting position. The same tendency was observed in the high cervical SCI group. In the comparison of respiratory muscle strength, higher values of supine MEP and MIP were found only in the high cervical SCI group. PCF is more positively correlated with MIP than with MEP in all groups. CONCLUSION: We found that the supine position is more advantageous for the strong breathing and larger lung capacity in patients with high cervical SCI. The positive correlation between PCF and MIP in the patients with high cervical SCI was also confirmed. These results may be used to establish a pulmonary rehabilitation strategy for patients with high cervical SCI.


Assuntos
Força Muscular/fisiologia , Músculos Respiratórios/fisiopatologia , Postura Sentada , Traumatismos da Medula Espinal/fisiopatologia , Decúbito Dorsal , Adulto , Vértebras Cervicais , Feminino , Humanos , Masculino , Pressões Respiratórias Máximas , Pessoa de Meia-Idade , Postura , Testes de Função Respiratória , Estudos Retrospectivos , Índice de Gravidade de Doença , Vértebras Torácicas , Capacidade Vital
9.
Ann Rehabil Med ; 42(3): 457-464, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29961744

RESUMO

OBJECTIVE: To analyze the respiratory function of high cervical cord injury according to ventilator dependence and to examine the correlations between diaphragm movement found on fluoroscopy and sensory and motor functions. METHODS: A total of 67 patients with high cervical spinal cord injury (SCI), admitted to our hospital were enrolled in the study. One rehabilitation physician performed sensory and motor examinations on all patients while each patient was in the supine position on the American Spinal Injury Association (ASIA) standard. In addition, fluoroscopic diaphragm movement studies and bedside spirometry were performed. RESULTS: Bedside spirometry and diaphragm fluoroscopic tests were analyzed according to ventilator dependence. Forced vital capacity and maximal inspiratory pressure were significantly higher in the ventilator weaned group. Natural breathing during the fluoroscopic diaphragm examinations and ventilator weaning showed statistical significance with the movement on the right, while deep breathing showed statistical significance with the movement on both sides. Deep breathing movement has correlation with the C5 key muscle. Diaphragm movement has correlation with right C3 and bilateral C4 sensory functions. CONCLUSION: The present expansion study showed that, through simple bedside physical examinations, rehabilitation physicians could relatively easily predict diaphragm movement and respiratory function recovery, which showed significance with ventilator weaning in patients with high cervical SCI.

10.
Ann Neurol ; 82(3): 466-478, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28856709

RESUMO

OBJECTIVE: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions. METHODS: We screened novel genetic factors from 34 RTT-like patients without MECP2 mutations, which account for ∼90% of RTT cases, by whole-exome sequencing. The biological function of the discovered variants was assessed in cell culture and Xenopus tropicalis models. RESULTS: We identified a recurring de novo variant in GABAB receptor R2 (GABBR2) that reduces the receptor function, whereas different GABBR2 variants in EE patients possess a more profound effect in reducing receptor activity and are more responsive to agonist rescue in an animal model. INTERPRETATION: GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. GABBR2-mediated γ-aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes. Ann Neurol 2017;82:466-478.


Assuntos
Mutação , Receptores de GABA-B/genética , Síndrome de Rett/genética , Espasmos Infantis/genética , Exoma , Genótipo , Células HEK293 , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Fenótipo , Transdução de Sinais/genética
11.
Korean J Pediatr ; 60(6): 196-201, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28690647

RESUMO

PURPOSE: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with Duchenne muscular dystrophy. METHODS: Fifty electrocardiograms (ECGs) of 30 patients (ages 1 to 27 years) who had not been prescribed medications for heart failure treatment at the time of examination were retrospectively analyzed and compared with 116 ECGs of age-matched healthy 116 controls. Heart rate, leads with fragmented QRS (fQRS), corrected QT, Tpeak-to-Tend, and Tpeak-to-Tend/QT were analyzed. RESULTS: The patients with Duchenne muscular dystrophy failed to show a normal age-related decline in heart rate but showed an increasing trend in the prevalence of fQRS, corrected QT, corrected Tpeak-to-Tend, and Tpeak-to-Tend/QT over time. In the ≤10-year-old patient group, a significant difference was found only in the prevalence of fQRS between the patients and the controls. The prevalence of fQRS, heart rate, Tpeak-to-Tend/QT, and corrected Tpeak-to-Tend demonstrated significant differences between the patients and the controls in the middle age group (11 to 15 years old). All the indexes were statistically significantly different in the ≥16-year-old patient group. CONCLUSION: The prevalence of lead with fQRS representing regional wall motion abnormalities was higher in the young patients than in the young healthy controls, and this might be one of the first signs of myocardial change in the patients. Markers of depolarization and repolarization abnormalities were gradually prominent in the patients aged >10 years. Further studies are needed to confirm these findings.

12.
Ann Rehabil Med ; 41(2): 299-305, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28503464

RESUMO

OBJECTIVE: To evaluate respiratory muscle strength in healthy Korean children in order to establish the criteria for normal reference values for future applications. In contrast with the other parameters for testing pulmonary function, normal values for respiratory muscle strength in healthy Korean children have not been assessed to date. METHODS: We conducted a complete survey of 263 students at Sinmyung Elementary School in Yangsan, Gyeongsangnam-do, and measured their height and body weight, performed pulmonary function tests, and evaluated maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) as measures of respiratory muscle strength. We excluded the subjects with respiratory or cardiovascular diseases that could affect the results. The subjects were children aged 8-12 years, and they consisted of 124 boys and 139 girls. RESULTS: The MIP and MEP values (mean±standard deviation) for the entire subject group were 48.46±18.1 cmH2O and 47.95±16 cmH2O, respectively. Boys showed higher mean values for MIP and MEP in every age group. Korean children showed lower mean values for MIP and MEP compared to those in previous studies conducted in other countries (Brazil and USA). CONCLUSION: Our results showed that boys generally have greater respiratory muscle strength than girls. We found a significant difference between the results of our study and those of previous studies from other countries. We speculate that this may be attributed to differences in ethnicity, nutrition, or daily activities.

13.
J Pediatr Endocrinol Metab ; 30(3): 337-341, 2017 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-28231063

RESUMO

BACKGROUND: The purpose of this study was to analyze the bone age and the upper extremity segmental lengths between the affected and the unaffected side and to reveal the correlation between the difference of bone age and the upper limb length discrepancy in the unilateral spastic cerebral palsy (CP). We also evaluated the relationship between difference of bone age and hand function. METHODS: Seventy-eight patients participated in this study. The bone ages of hand-wrists of the patients were determined by the Greulich and Pyle atlas. Upper extremity segmental lengths were measured by radiograph. The side-to side length discrepancy was calculated as a percentage. Hand function was classified according to the Manual Ability Classification System (MACS). RESULTS: There was significant difference in the bone age between the affected and unaffected side (p<0.001). Segmental lengths of the upper extremities showed significant differences between the affected and unaffected side (p<0.001). The hand function of 56 patients was evaluated by MACS and the MACS level showed correlation with difference of side-to-side bone age (r=0.29, p=0.03) and all segmental upper limb length discrepancies (p<0.05). The hand function in the bone-age-delayed group was significantly better than the hand function in the bone-age-symmetrical group (p<0.01). CONCLUSIONS: The bone age of the affected side compared to the unaffected side is delayed and the hand function of the affected side is correlated with the difference of side-to-side bone age and the upper limb length discrepancy. Hand function might be helpful for predicting potential limb shortness and delayed bone age.


Assuntos
Determinação da Idade pelo Esqueleto , Paralisia Cerebral/fisiopatologia , Mãos/fisiopatologia , Extremidade Superior/fisiopatologia , Adolescente , Desenvolvimento Ósseo , Criança , Pré-Escolar , Feminino , Seguimentos , Lateralidade Funcional , Humanos , Lactente , Desigualdade de Membros Inferiores , Masculino , Prognóstico
14.
Ann Rehabil Med ; 40(5): 851-861, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27847715

RESUMO

OBJECTIVE: To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of the overseas reference data and Korean healthy children and adolescent reference data. METHODS: We performed pulmonary function test (PFT) in a total of 27 DMD patients. We compared the patients' FVC% and FEV1% of the overseas reference data with those of the Korean children and adolescent reference data. Also, we compared the patients' MIP% and MEP% of the prediction equation data with those of the Korean children and adolescent reference data. RESULTS: Age of the subjects ranged from 8 to 16 years (12.03±2.27 years). The mean maximal expiratory pressure (MEP), maximal inspiratory pressure (MIP), vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and peak cough flow (PCF) were 36.93±9.5 cmH2O, 45.79±17.46 cmH2O, 1.4±0.43 L, 1.45±0.45 L, 1.40±0.41 L, and 206.25±61.21 L/min, respectively. The MIP%, MEP%, and FVC% of the Korean children and adolescent reference data showed statistically significant higher values than those of the prediction equation data. CONCLUSION: We observed a clear numeric difference between Korean DMD patients' pulmonary function value expressed as % of the overseas data and inland data. To perform a precise assessment of respiratory function and to determine appropriate respiratory therapy, pulmonary function values of Korean DMD patients should be interpreted taking into account the inland normal pulmonary function test data.

15.
Ann Rehabil Med ; 40(6): 1152, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28119850

RESUMO

[This corrects the article on p. 851 in vol. 40, PMID: 27847715.].

16.
J Hum Genet ; 60(4): 213-5, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25608830

RESUMO

Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS. Here, we present three patients from two unrelated families showing multiple joint contractures in both the upper and lower limbs. High-arched palates with malocclusion, short neck and micrognathia were observed in all patients. Peripheral blood karyotypes were normal. Whole-exome sequencing analysis of the patients' genomes led to the discovery of identical missense (p.Pro143Arg) and frameshift deletion variants (p.Pro251fs*45) on CHRNG. These were rare cases of congenital arthrogryposis multiplex related to novel recessive CHRNG variants in two Korean kindred without apparent relatedness.


Assuntos
Artrogripose/genética , Mutação , Receptores Nicotínicos/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Artrogripose/diagnóstico , Criança , Pré-Escolar , Exoma , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Linhagem , Fenótipo
17.
Ann Rehabil Med ; 38(3): 347-52, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25024958

RESUMO

OBJECTIVE: To compare the urodynamic study variables at the onset of vesicoureteral reflux (VUR) between the overactive and underactive bladders in patients with spinal cord injury who presented with VUR. METHODS: A total of 28 (13 cases of detrusor overactivity and 15 detrusor underactivity) men were enrolled. We compared the urodynamic variables between the two groups; detrusor pressure and bladder compliance, the infused volume at the onset of VUR measured on a voiding cystourethrography and cystometric capacity, maximum detrusor pressure, and bladder compliance during filling cystometry were recorded. RESULTS: At the onset of VUR, the bladder volume and compliance, except for the detrusor pressure, showed a significant difference between the two groups. The detrusor pressure, bladder volume, and bladder compliance relative to the cystometric capacity showed a significant difference between the two groups. The detrusor pressure, bladder volume, and bladder compliance at the onset of VUR relative to the cystometric bladder capacity did not show any significant difference between the two groups. CONCLUSION: There were differences in some variables at the onset of VUR depending on the type of neurogenic bladder. The VUR occurred at a lower capacity in neurogenic bladder with detrusor overactivity than in neurogenic bladder with detrusor underactivity at the same pressure. VUR occurred at a lower intravesical pressure compared to that known as the critical detrusor pressure (≥40 cm H2O) required for the development of VUR. The results of our study demonstrate that the detrusor pressure should be maintained lower than the well known effective critical detrusor pressure for the prevention and treatment of VUR.

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