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1.
PLoS One ; 18(2): e0263763, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36730246

RESUMO

PURPOSE: This study aimed to evaluate the quality of life and satisfaction about the surgical treatment in patients with symptomatic flexible flatfoot. METHODS: The Oxford Ankle Foot Questionnaire for children (one to fill in before the surgical correction and another 6-12 months after the screw's removal), the PedsQLTM Healthcare Satisfaction Generic Module and the PedsQLTM General Well-Being Scale were administered to all patients who underwent the anterograde calcaneo-stop procedure for flexible painful flatfoot between January 2012 and December 2015. RESULTS: One hundred forty patients were sent the questionnaires and 74 (40 male and 34 female) of them responded. The surgical correction was performed at a medium age of 11,84±1,65 years. When the Oxford Ankle Foot Questionnaire for children scores before surgical correction and after the screw removal were compared, the latter scored significantly higher for all domains. Healthcare satisfaction was good in all families. Most of the patients scored medium-high on the PedQLTM General Well-Being both when asked about themselves (mean 86,50±7,44) and in general about their health (76,06±12,32). CONCLUSION: Our results confirmed that flexible painful flatfoot is significantly affecting the quality of life of children and that the anterograde calcaneo-stop procedure is a valuable technique, which improves their quality of life and the family wellbeing.


Assuntos
Pé Chato , Procedimentos Ortopédicos , Criança , Humanos , Masculino , Feminino , Recém-Nascido , Pé Chato/cirurgia , Resultado do Tratamento , Qualidade de Vida , Pé/cirurgia , Procedimentos Ortopédicos/métodos , Estudos Retrospectivos
2.
Genes (Basel) ; 13(11)2022 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-36360195

RESUMO

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.


Assuntos
Pé Torto Equinovaro , Criança , Humanos , Pé Torto Equinovaro/genética , Variações do Número de Cópias de DNA/genética , Mutação , Proteínas com Domínio T/genética
3.
Children (Basel) ; 9(8)2022 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-36010025

RESUMO

(1) Background: The Ponseti Method is the gold standard for the treatment of congenital clubfoot. It is a low-cost treatment consisting in a series of plaster casts, a percutaneous Achilles' tenotomy and a Mitchell Ponseti brace to wear with a definite protocol. This treatment allows children to be with their families instead of being hospitalized. This advantage is also a challenge for the families that have to follow the protocol at home. This paper aims to analyze the perception, the difficulties and the overcomes of the families during the treatment. (2) Methods: We used a 41 questions questionnaire by Nogueira and Morquende. Questions were answered by families who had already finished the treatment or were still following it. (3) Results: We interviewed 92 families. The worst handling phase appeared to be the cast phase, while the brace seemed more bearable. In total, 57 families overrated tenotomy; (4) Conclusions: Families perceived the Ponseti Method as a quality treatment. The anxiety about the diagnosis played a strong role, but none of the difficulties encountered decreased the treatment outcomes or affected families' adherence to the protocol. The open-ended answers highlighted that the positive relationship with doctors played a key role in the everyday compliance and the achievement of good results.

4.
Artigo em Inglês | MEDLINE | ID: mdl-35564801

RESUMO

(1) Background: We find the incidence of clubfoot in Italy from "Certificate of Delivery Care Registry (CeDAP)", a database of the Italian Ministry of Health, the most comprehensive public data available for this purpose. (2) Methods: The CeDAP registry is a web system that provides epidemiological and sociodemographic information about newborns. It started on 1 January 2002, following the ministerial Decree no. 349 of 16 July 2001. The certificate is structured into six sections; each collects specific information referring to the birthplace, parents, pregnancy, childbirth, newborn, and the possible presence of congenital malformations or the causes of neonatal mortality. The midwife or the doctor draws up the certificate no later than ten days after birth. Each region transmits the data every six months to the Ministry of Health. The period between 2013 and 2017 has been selected for the study, with every Italian region's data. We conducted a retrospective descriptive study. (3) Results: The overall rate in northern Italy is 1.09 (with some exceptions described), but we think it is essential to reevaluate this number again, given more accurate data collections by every Italian hospital. (4) Conclusions: This study intends to build a framework for future epidemiologic studies about clubfoot in Italy.


Assuntos
Pé Torto Equinovaro , Pé Torto Equinovaro/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , Itália/epidemiologia , Gravidez , Dados Preliminares , Sistema de Registros , Estudos Retrospectivos
5.
Children (Basel) ; 9(3)2022 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-35327738

RESUMO

BACKGROUND: Flexible flatfoot is a frequent condition in childhood that needs to be treated when symptomatic. The aim of this study was to analyze pedobarographic and gait outcomes of patients with painful flexible flatfoot who underwent the anterograde calcaneo-stop procedure. METHODS: All patients scheduled for surgical correction of painful flexible flatfoot between April and September 2011 were offered to participate in a study of dynamic pedobarographic and gait analyses before surgery and 3, 12, and 24 months after surgery. A healthy control group of similar age and physical characteristics also underwent dynamic pedobarographic and gait analyses. RESULTS: Fifteen patients accepted to undergo dynamic pedobarography and gait analyses. The data were compared with fifteen controls of similar age and BMI. No significant differences were found on dynamic pedobarography within patients at different endpoints, except for a decreased percentage of plantigrade phase and increased percentage of digitigrade phase at 12 months post-op in comparison with 3 months post-op, nor when compared with control. Similarly, when range of motion was taken into consideration, no significant differences were found within patients at different endpoints, nor when compared with control, except for a decrease in ankle joint range of motion 24 months post-op in comparison with the controls. The stride was significantly decreased before surgery and became like controls 24 months after the procedure. The cadence, significantly decreased 24 months after surgery in comparison with the pre-surgical set, was similar to the controls. No significant differences were seen in the walking speed within patients at different endpoints and the controls. The cycle time significantly increased 24 months after surgery when compared to the pre-op situation, and was similar to the controls. CONCLUSION: Dynamic pedobarographic and gait analyses were useful not only to identify the gait impairment in patients with symptomatic flexible flatfoot, but also to measure the treatment outcome through the analysis of the surgery's impact on the gait quality.

6.
Emerg Med J ; 39(8): 595-600, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34649940

RESUMO

BACKGROUND: Bone fractures are a common reason for children and adolescents to seek evaluation in the ED. Little is known about the pain experienced after cast immobilisation and discharge from the ED and its optimal management. We aimed to investigate the administration of pharmacological analgesia in the first days after cast immobilisation and to identify possible influencing variables. METHODS: A prospective observational cross-sectional study was conducted at the ED of the children's hospital, Institute for Maternal and Child Health of Trieste, Italy, from October 2019 to June 2020. Patients aged 0-17 years with bone fractures were included. The primary outcome was the administration of analgesia during the 10 days following discharge, while secondary outcomes were the associated variables, including age, gender, fracture type and location, the mean limitation in usual activities and the frequency of re-evaluation at the ED for pain. Data were recorded through a questionnaire, completed by caregivers and collected by the researchers mainly through a telephone interview. The primary endpoint was evaluated as the ratio between the number of children who took at least one analgesic dose and the total enrolled children, while Χ2 or Fisher's exact tests were used to assess secondary outcomes. RESULTS: During the study period, 213 patients, mean age 10 years (IQR: 8-13), were enrolled. Among them, 137 (64.3%) did not take any analgesic during follow-up. Among children who were administered analgesia, 22 (28.9%) received it only on the first day, and 47 (61.8%) for less than 5 days. One hundred and sixty one patients (75.6%) did not report any limitation in usual activities because of pain. The administration of analgesia was not related to the child's age, gender or fracture site. Displaced fractures were associated with significantly more frequent analgesia being taken (OR 5.5, 95% CI 1.4 to 21.0). CONCLUSION: Although some studies recommend scheduled analgesic treatment after discharge for bone fractures, this study would suggest analgesia on demand in children with non-displaced fractures, limiting scheduled analgesia to children with displaced fractures.


Assuntos
Analgesia , Fraturas Ósseas , Adolescente , Analgesia/efeitos adversos , Analgésicos/uso terapêutico , Criança , Estudos Transversais , Fraturas Ósseas/complicações , Fraturas Ósseas/terapia , Humanos , Dor/etiologia
7.
Eur J Obstet Gynecol Reprod Biol ; 264: 60-64, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34273754

RESUMO

OBJECTIVE: To evaluate concordance between prenatal and postnatal diagnosis of congenital talipes equinovarus (cTEV), rates of surgery and postnatal outcomes in relation to the prenatal classification of severity. STUDY DESIGN: This is a retrospective observational cohort study on fetuses with a prenatal diagnosis of cTEV between 2004 and 2018. All cases of isolated cTEV in singleton pregnancies were included. Postnatally, the Ponseti method was applied. Children were followed-up postnatally for at least two years, with a specific focus on neurodevelopmental outcome. RESULTS: The cohort included 81 fetuses with a prenatal diagnosis of cTEV confirmed postnatally in 86.4% of cases. Concordance between prenatal and postnatal assessment was good for both laterality and degree of severity (k = 0.61 and 0.66, respectively). The average Pirani score, number of casts and rates of Achilles tendon tenotomy were higher for III degree cTEV (p < 0.001). Within this group only, the rate of relapse was 11% and the rates of major surgery was 6%. The postnatal outcome was normal in 68.6% newborns, while 14% of cases had a diagnosis of minor additional findings and 17% had an impairment of neurological development. None of the outcome was statistically correlated to the prenatal assessment of laterality or degree. CONCLUSIONS: The accuracy of prenatal ultrasound for isolated cTEV is 86% with a false positive diagnosis of 14%. The grade of cTEV assigned prenatally correlates to postnatal severity and longer orthopedic rehabilitation in terms of number of casts and need of surgery. The assessment of the correlation between cTEV and neurological impairment requires further prospective studies on larger cohorts.


Assuntos
Pé Torto Equinovaro , Moldes Cirúrgicos , Criança , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento
8.
Ital J Pediatr ; 46(1): 78, 2020 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-32498693

RESUMO

Clubfoot is the most frequent congenital malformation of the foot, affecting more than 1-2 subjects per 1.000 newborns. Without appropriate treatment, a child with congenital clubfoot will never be able to walk physiologically with a dramatic impact on the quality of life. In the last decades, different corrective solutions have been proposed, and there is rising scientific evidence that the Ponseti non-invasive method is safe and effective in the treatment of the clubfoot. So, what should a general paediatrician know about this condition and what should he concretely do in the suspect of a congenital clubfoot?


Assuntos
Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/terapia , Humanos , Recém-Nascido
9.
Acta Biomed ; 90(12-S): 127-130, 2019 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-31821296

RESUMO

Equino-varus-adducted-supinated, also known as clubfoot, is the most frequent congenital malformation of the foot. Scientific evidences of the last decades has definitively confirmed the efficacy of the non-invasive Ponseti Technique, which is based on manipulation, plaster casts, percutaneous achillean tenotomy and stabilization of the foot using a brace. The aim of the article is to describe the experience of our third level hospital in treating clubfoot with Ponseti Method. Our data are similar to the ones in literature, confirming the effectiveness and good reproducibility of the Method.


Assuntos
Pé Torto Equinovaro/terapia , Tendão do Calcâneo/cirurgia , Braquetes , Moldes Cirúrgicos , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Lactente , Masculino , Manipulação Ortopédica , Estudos Retrospectivos , Tenotomia , Fatores de Tempo , Resultado do Tratamento
10.
J Pediatr Orthop ; 39(9): 449-452, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31503229

RESUMO

BACKGROUND: Developmental dysplasia of the hip (DDH) is one of the most common congenital defects in the newborn. When its severe form is not corrected, it is associated with long-term morbidity. Closed reduction with casting is the standard primary treatment and reduction is confirmed by magnetic resonance imaging (MRI). We reported our experience on the reliability of MRI in postreduction assessment of DDH. METHODS: All children who underwent closed reduction for Graf type IV DDH at our institution between September 2010 and June 2016 were retrospectively reviewed. Since 2010 we assessed postreduction position of the femoral head by performing a MRI. RESULTS: Twenty-five (5 male, 20 female) patients presented with 29 (15 left sided, 6 right sided, 4 bilateral) Graf type IV DDH and underwent closed reduction at a mean age of 3.4 months. In all patients MRI studies performed within 24 hours were diagnostic, showing a concentric reduction of the femoral head within the acetabulum in 24/25 patients. In the patient with persistent hip instability, a subsequent open reduction was performed. In all the cases, there was no need of any contention or sedation during MRI. CONCLUSIONS: On the basis of our experience, MRI is an excellent, safe and, reliable modality to confirm maintenance of adequate femoral head position and to evaluate soft tissue interposition. We agree that MRI is the gold standard to early depict dislocation after closed reduction of DDH.


Assuntos
Acetábulo/diagnóstico por imagem , Cabeça do Fêmur/diagnóstico por imagem , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/terapia , Imageamento por Ressonância Magnética , Feminino , Humanos , Lactente , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos
11.
BMC Health Serv Res ; 14: 327, 2014 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-25070705

RESUMO

BACKGROUND: The growing cost of health care and lack of specialised staff have set e-Health high on the European political agenda. In a prospective study we evaluated the effect of providing images for remote consultation through an iPad on the number of in-hospital orthopaedic consultations for children with bone fractures. METHODS: Children from 0 to 18 years diagnosed with a bone fracture by the radiologist during the hours when an orthopaedic service is provided only on-call were eligible for enrollment. Cases were enrolled prospectively during September and October 2013. A standard approach (verbal information only, no X-Ray provided remotely) was compared to an experimental approach (standard approach plus the provision of X-ray for remote consultation through an iPad). The primary outcome was the number of orthopaedic in-hospital consultations that occurred. Other outcomes included: immediate activation of other services; time needed for decision-making; technical difficulties; quality of images and diagnostic confidence (on a likert scale of 1 to 10). RESULTS: Forty-two children were enrolled in the study. Number of in-hospital consultancies dropped from 32/42 (76.1%) when no X-ray was provided to 16/42 (38%) when the X-rays was provided (p < 0.001). With remote X-ray consultation in 14/42 (33.3%) cases services such as surgery and plaster room could be immediately activated, compared to no service activated without teleradiology (p < 0.001). Average time for decision making was 23.4 ± 21.8 minutes with remote X-ray consultation, compared to 56.2 ± 16.1 when the X-ray was not provided (p < 0.001). The comparison between images on the iPad and on the standard system for X- Ray visualisation resulted in a non statistically significant difference in the quality of images (average score 9.89 ± 0.37 vs 9.91 ± 0.30; p = 0.79), and in non statistically significant difference in diagnostic confidence (average score 9.91 ± 0.32 vs 9.92 ± 0.31; p = 0.88). CONCLUSIONS: Remote X-ray consultation through Aycan OsiriX PRO and iPad should be considered as a means for reducing the need of in-hospital orthopaedic consultation during on-call times, and potentially decrease the cost of care for the health system. In the future, alternative systems less expensive than Aycan OsiriX PRO should be further developed and tested.


Assuntos
Computadores de Mão , Fraturas Ósseas/diagnóstico por imagem , Consulta Remota/instrumentação , Telerradiologia/instrumentação , Adolescente , Criança , Pré-Escolar , Tomada de Decisões , Humanos , Lactente , Recém-Nascido , Itália , Estudos Prospectivos , Radiografia , Fatores de Tempo
12.
Int J Cancer ; 134(11): 2742-7, 2014 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-24226851

RESUMO

Human papillomavirus (HPV)-associated tumors still represent an urgent problem of public health in spite of the efficacy of the prophylactic HPV vaccines. Specific antibodies in single-chain format expressed as intracellular antibodies (intrabodies) are valid tools to counteract the activity of target proteins. We previously showed that the M2SD intrabody, specific for the E7 oncoprotein of HPV16 and expressed in the endoplasmic reticulum of the HPV16-positive SiHa cells, was able to inhibit cell proliferation. Here, we showed by confocal microscopy that M2SD and E7 colocalize in the endoplasmic reticulum of SiHa cells, suggesting that the E7 delocalization mediated by M2SD could account for the anti-proliferative activity of the intrabody. We then tested the M2SD antitumor activity in two mouse models for HPV tumors based respectively on TC-1 and C3 cells. The M2SD intrabody was delivered by retroviral vector to tumor cells before cell injection into C57BL/6 mice. In both models, a marked delay of tumor onset with respect to the controls was observed in all the mice injected with the M2SD-expressing tumor cells and, importantly, a significant percentage of mice remained tumor-free permanently. This is the first in vivo demonstration of the antitumor activity of an intrabody directed towards an HPV oncoprotein. We consider that these results could contribute to the development of new therapeutic molecules based on antibodies in single-chain format, to be employed against the HPV-associated lesions even in combination with other drugs.


Assuntos
Anticorpos Antivirais/administração & dosagem , Papillomavirus Humano 16/imunologia , Proteínas E7 de Papillomavirus/antagonistas & inibidores , Infecções por Papillomavirus/terapia , Anticorpos de Cadeia Única/administração & dosagem , Neoplasias do Colo do Útero/terapia , Animais , Anticorpos Antivirais/genética , Anticorpos Antivirais/imunologia , Proliferação de Células , Feminino , Terapia Genética , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Proteínas E7 de Papillomavirus/genética , Proteínas E7 de Papillomavirus/imunologia , Infecções por Papillomavirus/genética , Infecções por Papillomavirus/virologia , Anticorpos de Cadeia Única/genética , Anticorpos de Cadeia Única/imunologia , Taxa de Sobrevida , Células Tumorais Cultivadas , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/virologia
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