Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consanguineous; there was family history of pectus carinatum of maternal lineage. On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers and hard painless swelling of all of the proximal interphalangeal joints; brachydactyly of the toes. Laboratory tests were unremarkable and radiographic studies revealed distinctive abnormalities of the hands (e.g., epiphyseal coning). This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene. The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features, a compatible clinical history and imaging findings.

Evaluation of tumescent local anesthesia in cats undergoing unilateral mastectomy.

OBJECTIVE: To evaluate the analgesic efficacy and safety of tumescent local anesthesia (TLA) in cats undergoing unilateral mastectomy. STUDY DESIGN: Prospective clinical trial. ANIMALS: A total of 12 ovariohysterectomized female cats. METHODS: All animals were premedicated with pethidine (4 mg kg-1) intramuscularly (IM), followed by induction of anesthesia with propofol (5 mg kg-1) intravenously and maintenance with isoflurane in oxygen. A refrigerated TLA solution (15 mL kg-1, 8 °C) was injected using a Klein cannula. The solution was composed of 0.5 mL of epinephrine (1 mg mL-1) and 40 mL of 2% lidocaine added to 210 mL lactated Ringer's solution (final lidocaine concentration 0.32%). Heart and respiratory rates, systolic arterial blood pressure, temperature and oxygen saturation were measured during anesthesia. Blood samples were collected from the jugular vein for measurement of plasma lidocaine concentration using high performance liquid chromatography. Postoperative pain scores were evaluated hourly for 6 hours. Analgesic rescue was performed with tramadol (2 mg kg-1) IM and meloxicam (0.15 mg kg-1) subcutaneously. RESULTS: Plasma lidocaine concentration peaked at 90 minutes after injection of TLA, but no concentration considered toxic for the species was measured. The median postoperative analgesia time was 6 hours after injection of TLA. CONCLUSIONS: This study found that TLA prevented sympathetic response to noxious stimuli during anesthesia and provided satisfactory postoperative analgesia in cats submitted to total unilateral mastectomy, with no apparent signs of toxicity. CLINICAL RELEVANCE: TLA can prevent sympathetic stimulation resulting from noxious stimuli during anesthesia, promoting good intraoperative conditions, proving to be a viable addition to analgesia in cats submitted to a total unilateral mastectomy.

Electromagnetic Rod in Lower Limb Lengthening: A Technical Note for Shaft Osteotomy.

PURPOSE: Long bone lengthening procedures are paramount in the treatment of limb length discrepancies. We witnessed a revolution in the treatment paradigm of this pathology with the development of expandable intramedullary rods. Endomedular nailing might be technically demanding and some steps are critical for success. The aim of authors is to describe a technical note of the PRECICE system that may ease femoral nailing and fixation: the nail can be advanced through the femur and proximal and distal fixation performed previous to complete femoral osteotomy. MATERIALS AND METHODS: The authors present a case series of XX patients in which the limb lengthening has been performed with partial osteotomy with Gigli saw, nail advancement, proximal and distal fixation, and osteotomy completion at the end of the procedure. RESULTS: After 18 consecutive limb (femoral) lengthening operations with this technical variation in PRECICE, nail patients presented no significant lower limb length discrepancy. There were no records of rotational deformities, nonunion, or infection. Material failure was not reported. CONCLUSION: This technical note is another positive variable that can help to ease the procedure, minimise possible complications, and confirm magnetic expandable nails as the gold standard technique in limb lengthening procedures and it might be applied to other nailing systems for limb lengthening procedures. HOW TO CITE THIS ARTICLE: Lopes M, Nunes B, Couto A, et al. Electromagnetic Rod in Lower Limb Lengthening: A Technical Note for Shaft Osteotomy. Strategies Trauma Limb Reconstr 2019;14(3):139-141.

Pyogenic Sacroiliitis in a Pediatric Patient: A Rare Case of Infection by Streptococcus intermedius.

This is a case report of pyogenic sacroiliitis in a pediatric patient caused by Streptococcus intermedius. The patient is a 16-year-old boy who presented to an emergency department with sudden onset of back pain radiating to the left lower extremity. The diagnosis was confounded by the presence of isthmic spondylolisthesis. Plain radiography demonstrated mild isthmic spondylolisthesis but no radiographic signs of tumor, trauma, infection, arthritis, or other developmental problems. The C-reactive protein level was 23 mg/L. Over the next 24 hours, the patient developed fever, and the C-reactive protein level increased to 233 mg/L. Sacroiliitis and an iliopsoas abscess were identified on MRI. Blood cultures grew S intermedius. The patient responded to antibiotic treatment and needle aspiration under CT guidance. Sacroiliitis is an uncommon condition and, to our knowledge, there is only one other case report of its being caused by S intermedius. The previous report was in an adult.

Two consecutive limb lengthenings with the same PRECICE nail: a technical note.

PURPOSE: The most significant advance in our time about limb lengthening is the magnetic lengthening nail, as the first reports appeared to show good results with accurate lengthening rates and good regenerate bone formation. The described complication rate is generally low. They avoid external fixation elements, and are activated transcutaneously, so the patient's pain and discomfort are reduced and the rehabilitation is faster and more effective. The aim of authors is to describe a special technical issue of the PRECICE system: the nail can be extended inside the patient limb (after the osteotomy), but it also can be retracted inside the limb after achieving the bone union. METHODS: The authors present a case in which the limb lengthening has been performed in consecutive lengthening periods using the same nail. The nail was extended and retracted by altering the settings on the external remote control as well as accurately setting the rate of distraction. RESULTS: After two consecutive femoral lengthening with the same PRECICE nail, the patient no longer has a significant lower limb length discrepancy and patient satisfaction was high. During this clinical case, we were not confronted with any type of complications. CONCLUSION: This technique utilizes the principles and advantages of lengthening over an magnetic lengthening nail, avoids the necessity of nail removal and minimizes the complication rates and the overall time for complete recovery. LEVEL OF EVIDENCE: Level IV.

Long-Term Outcomes of the Calcaneo-Stop Procedure in the Treatment of Flexible Flatfoot in Children: A Retrospective Study.

INTRODUCTION: Flexible flatfoot is common amongst children, although treatment is rarely indicated. The calcaneo-stop procedure has been reported to be effective in short-term studies. We aim to evaluate the long-term outcomes of the calcaneo-stop procedure in the treatment of flexible flatfoot in children. MATERIAL AND METHODS: Twenty-six calcaneo-stop procedures performed between 1995 and 2006 on 13 patients were evaluated clinically and using photopodoscopy, and the FAOS questionnaire was applied for both feet. RESULTS: Of the 26 feet evaluated, 22 presented with heel valgus, 13 had forefoot supination and 11 had abnormal footprints. Median FAOS questionnaire score was 97.22 for 'Pain', 92.86 for 'Other symptoms', 98.53 for 'Function in daily living', 100 for 'Function in sports and recreation' and 93.75 for 'Foot and ankle-related quality of life'. DISCUSSION: The calcaneo-stop procedure is the least invasive and most simple surgical treatment for symptomatic flexible flatfoot in children. Short-term studies report excellent clinical and radiographic results. The authors report alterations in clinical parameters in a large proportion of patients. These findings can be due to biomechanical alterations in the years following removal of the screw. Patient foot and ankle-related satisfaction data is promising, although hard to evaluate given the absence of preoperative data. CONCLUSION: Larger, prospective, controlled studies are required to better evaluate the long-term success of this procedure.

Introdução: O pé plano flexível é comum entre as crianças, embora o tratamento seja raramente indicado. O procedimento calcaneostop tem sido reportado como eficaz em estudos a curto prazo. O objetivo deste trabalho é avaliar os resultados a longo prazo do procedimento calcaneo-stop no tratamento do pé plano flexível em crianças. Material e Métodos: Vinte e seis procedimentos calcaneo-stop, realizados entre 1995 e 2006, de 13 doentes, foram avaliados clinicamente e usando fotopodoscopia, e o questionário FAOS foi aplicado para ambos os pés. Resultados: Dos 26 pés avaliados, 22 apresentaram calcanhar valgo, 13 tinham supinação do antepé e 11 tinham pegadas consideradas anormais. As medianas das pontuações do questionário FAOS foram 97,22 para o parâmetro 'Dor', 92,86 para 'Sintomas', 98,53 para 'Funcionalidade, vida diária', 100 para 'Funcionalidade, desporto e atividades de lazer' e 93,75 para 'Qualidade de vida'. Discussão: O procedimento de calcaneo-stop é o tratamento cirúrgico menos invasivo e mais simples para o pé plano flexível sintomático em crianças. Estudos com avaliação a curto prazo relatam excelentes resultados clínicos e radiográficos. Os autores deste estudo reportam alterações nos parâmetros clínicos de uma grande proporção de pacientes. Esses achados podem ser devidos a alterações biomecânicas nos anos seguintes à remoção do parafuso. Os dados relativos à satisfação do paciente em relação ao pé e tornozelo são razoáveis, embora difíceis de avaliar, dada a ausência de dados pré-operatórios. Conclusão: São necessários estudos com mais casos, prospetivos, randomizados e com ocultação, para melhor avaliar o sucesso a longo prazo deste procedimento.

Neuroimmune expression in hip osteoarthritis: a systematic review.

BACKGROUND: Neuroimmune axis is central in the physiopathology of hip osteoarthritis (OA), but its specific pathways are still unclear. This systematic review aims to assess the nervous and immune system profile of patients with hip osteoarthritis (OA) when compared to healthy controls. METHODS: A systematic review followed PRISMA guidelines was conducted. A two-step selection process was completed, and from 609 references 17 were included. The inclusion criteria were: original articles on adult patients with hip OA, with assessment of neuroimmune expression. Articles with other interventions prior to analysis and those without a control group were excluded. RESULTS: Thirty-nine relevant neuroimmune markers were identified, with assessments in bone, cartilage, synovial membrane, synovial fluid, whole blood, serum and/or immune cells. GM-CSF, IFN-γ, IL-1α, IL-6, IL-8, IL-1 and TNF-α presented variable expression among tissues studied when compared between hip OA and controls. VEGFs and TGF-ß isoforms showed similar tendencies among tissues and studies. On nervous expression, CGRP, Tuj-1 and SP were increased in synovial membrane. Overall, patients with hip OA presented a higher number of overexpressed markers. CONCLUSIONS: For the first time a systematic review on neuroimmune expression in patients with hip OA found an upregulation of neuroimmune markers, with deregulated balance between pro and anti-inflammatory cytokines. However, no clear systematic pattern was found, and few information is available on nervous expression. This highlights the importance of future research with clear methodologies to guide the management of these patients.

Immune response and innervation signatures in aseptic hip implant loosening.

BACKGROUND: Aseptic loosening (AL) of hip prosthesis presents inflammation and pain as sign and symptom similarly to arthritis pathologies. Still, the immune and innervation profiles in hip AL remain unclear and their interplay is poorly explored. Herein, local tissue inflammatory response, sensory and sympathetic innervation as well as associated local mediators were assessed in hip joint microenvironment underlying AL and compared to osteoarthritis (OA). METHODS: Histopathological analysis, immune cells (macrophages, T, B cells and PMNs) as well as sensory and sympathetic nerve fibers (SP(+), CGRP(+), TH(+)) distribution and profiles were analyzed on tissues retrieved from patients with failed hip prostheses due to AL (n = 20) and hip OA (n = 15) by immunohistochemistry. Additionally, transcriptional levels of pro-inflammatory cytokines (TNF-α, IL-1ß, IL-6, IL-12a, iNOS), anti-inflammatory cytokine (IL-10), osteoclastic factor (RANKL) and bone remodeling factor (TGF-ß1) were locally evaluated by qRT-PCR. Serum TGF-ß1 levels were assessed preoperatively by ELISA. RESULTS: Histopathological analysis revealed that tissues, aseptic interface membranes of AL patients had distinct tissue architecture and immune cells profile when compared to OA synovial tissues. Macrophages, T cells and B cells showed significant differences in tissue distribution. In OA, inflammation is mostly confined to the vicinity of synovial membrane while in AL macrophages infiltrated throughout the tissue. This differential immune profile is also accompanied with a distinct pattern of sensory and sympathetic innervation. Importantly, in AL patients, a lack of sympathetic innervation aseptic interface membranes without compensation mechanisms at cellular levels was observed with simultaneous reorganization of sensorial innervation. Despite the different histopathological portrait, AL and OA patients exhibited similar transcriptional levels of genes encoding key proteins in local immune response. Nevertheless, in both pathologies, TGF-ß1 expression was prominent in sites where the inflammation is occurring. However, at systemic level no differences were found. CONCLUSION: These findings indicate that AL patients exhibit different local inflammatory response and innervation signatures from OA patients in hip joint. These insights shed the light on neuro-immune interplay in AL and highlight the need to better understand this crosstalk to unravel potential mechanisms for targeted-therapies to improve hip joint lifetime and treatment.

Congenital dislocation of the patella - clinical case.

Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

A luxação congênita da patela é uma patologia rara, em que a patela se encontra permanentemente luxada e manualmente irredutível. A patela desenvolve-se normalmente como um osso sesamoide do fêmur. A luxação congênita da patela resulta da falência da rotação interna do miótomo que forma o fêmur, músculo quadricípite e o aparelho extensor. Usualmente manifesta-se imediatamente após o nascimento, embora em alguns casos raros o diagnóstico possa ser adiado até a adolescência/idade adulta. O diagnóstico precoce é importante, permite a correção cirúrgica, evita as sequelas tardias, notadamente alterações degenerativas precoces do joelho. É apresentado um caso de luxação permanente da patela, numa criança de sexo feminino, com sete anos.

Congenital dislocation of the patella - clinical case / Luxação congênita da patela - Caso clínico

Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

A luxação congênita da patela é uma patologia rara, em que a patela se encontra permanentemente luxada e manualmente irredutível. A patela desenvolve-se normalmente como um osso sesamoide do fêmur. A luxação congênita da patela resulta da falência da rotação interna do miótomo que forma o fêmur, músculo quadricípite e o aparelho extensor. Usualmente manifesta-se imediatamente após o nascimento, embora em alguns casos raros o diagnóstico possa ser adiado até a adolescência/idade adulta. O diagnóstico precoce é importante, permite a correção cirúrgica, evita as sequelas tardias, notadamente alterações degenerativas precoces do joelho. É apresentado um caso de luxação permanente da patela, numa criança de sexo feminino, com sete anos.