Neuropatia compressiva do nervo supraescapular

Introdução: a neuropatia compressiva do nervo supraescapular foi descrita pela primeira vez em 1952 mas só recentemente tem sido mais compreendida e diagnosticada. A sua etiologia nem sempre é clara e o seu diagnóstico ainda não está bem estabelecido. O tratamento é controverso, especialmente a opção pela libertação artroscópica. Esta técnica tem sido cada vez mais utilizada mas, apesar dos bons resultados relatados, não encontramos na literatura qualquer análise sistematizada dos resultados clínicos desta técnica. Pretendeu-se com este trabalho efetuar uma revisão teórica do tema e uma análise detalhada dos resultados do tratamento artroscópico, procurando as indicações mais apropriadas para esta técnica. Material e Métodos: pesquisa efetuada em 6 bases de dados disponíveis na Internet utilizando as expressões: “suprascapular nerve”, “arthroscopic”, “release” e “decompression”. Efetuada revisão sistemática da literatura encontrada e uma síntese narrativa. Síntese de dados e conclusão. A neuropatia compressiva do nervo supraescapular é atualmente uma entidade nosológica bem estabelecida e cada vez melhor compreendida. Integra o diagnóstico diferencial da patologia da cintura escapular, sobretudo em doentes jovens, atletas ou no contexto de roturas da coifa. O tratamento cirúrgico está indicado na falência do tratamento conservador sendo a libertação artroscópica do nervo uma técnica em expansão. Está indicada em doentes com omalgia posterior, diminuição da força do supraespinhoso e infraespinhoso ou apenas do infraespinhoso, com ou sem alterações electromiográficas. O resultado das pequenas series publicadas até ao momento é encorajador pois parece proporcionar resultados clínicos positivos consistentes, constituindo um tratamento válido para a neuropatia compressiva do nervo supraescapula

Evaluación del ISTH-BAT en los trastornos plaquetarios congénitos: correlación clínica, laboratorio y molecular

CO-153 Introducción: Los trastornos plaquetarios congénitos (TPC) son un grupo heterogéneo de enfermedades raras, que se clasifican en trombocitopenias hereditarias (THs) y en trombocitopatías hereditarias (TFPs). Su identificación inicial y su diagnóstico final son complejos. Éste, se basa en la la historia clínica, la exploración física, pruebas de laboratorio fenotípicas y la confirmación de la alteración molecular subyacente. Por otra parte, la valoración de la clínica hemorrágica suele ser subjetiva, por lo que la Sociedad Internacional de Trombosis y Hemostasia (ISTH) recomienda la utilización de escalas de sangrado (bleeding assessment tools, BAT). Los objetivos de nuestros estudios fueron a) evaluar la clínica hemorrágica con el ISTH-BAT en pacientes diagnosticados de TPC, b) su comparación entre THs y TFPs y c) su relación con las pruebas funcionales y moleculares. Métodos: Estudio retrospectivo de 138 pacientes con TPC incluidos en el proyecto nacional “Caracterización funcional y molecular de los TPC” de la SETH. La clínica hemorrágica se evaluó mediante el ISTHBAT, obteniendo un score de sangrado (BS). El diagnóstico fenotípico se realizó mediante hemograma y frotis de sangre periférica, la función plaquetaria mediante agregometría de transmisión de luz (LTA) y citometría de flujo (CMF) y el diagnóstico molecular mediante secuenciación ..

Osteochondral transplantation using autografts from the upper tibio-fibular joint for the treatment of knee cartilage lesions

Purpose Treatment of large cartilage lesions of the knee in weight-bearing areas is still a controversy and challenging topic. Autologous osteochondral mosaicplasty has proven to be a valid option for treatment but donor site morbidity with most frequently used autografts remains a source of concern. This study aims to assess clinical results and safety profile of autologous osteochondral graft from the upper tibio-fibular joint applied to reconstruct symptomatic osteochondral lesions of the knee. Methods Thirty-one patients (22 men and 9 women) with grade 4 cartilage lesions in the knee were operated by mosaicplasty technique using autologous osteochondral graft from the upper tibio-fibular joint, between 1998 and 2006. Clinical assessment included visual analog scale (VAS) for pain and Lysholm score. All patients were evaluated by MRI pre- and post-operatively regarding joint congruency as good, fair (inferior to 1 mm incongruence), and poor (incongruence higher than 1 mm registered in any frame). Donor zone status was evaluated according to specific protocol considering upper tibio-fibular joint instability, pain, neurological complications, lateral collateral ligament insufficiency, or ankle complaints. Results Mean age at surgery was 30.1 years (SD 12.2). In respect to lesion sites, 22 were located in weight-bearing area of medial femoral condyle, 7 in lateral femoral condyle, 1 in trochlea, and 1 in patella. Mean follow-up was 110.1 months (SD 23.2). Mean area of lesion was 3.3 cm 2 (SD 1.7), and a variable number of cylinders were used, mean 2.5 (SD 1.3). Mean VAS score improved from 47.1 (SD 10.1) to 20.0 (SD 11.5); p = 0.00. Similarly, mean Lysholm score increased from 45.7 (SD 4.5) to 85.3 (SD 7.0); p = 0.00. The level of patient satisfaction was evaluated, and 28 patients declared to be satisfied/very satisfied and would do surgery again, while 3 declared as unsatisfied with the procedure and would not submit to surgery again. These three patients had lower clinical scores and kept complaints related to the original problem but unrelated to donor zone. MRI score significantly improved at 18–24 months comparing with pre-operative (p = 0.004). No radiographic or clinical complications related to donor zone with implication in activity were registered. Conclusions This work corroborates that mosaicplasty technique using autologous osteochondral graft from the upper tibio-fibular joint is effective to treat osteochondral defects in the knee joint. No relevant complications related to donor zone were registered

Mesenchymal stem cell secretome improves tendon cell viability in vitro and tendon-bone healing in vivo when a tissue engineering strategy is used in a rat model of chronic massive rotator cuff tear

BACKGROUND: Massive rotator cuff tears (MRCTs) represent a major clinical concern, especially when degeneration and chronicity are involved, which highly compromise healing capacity. PURPOSE: To study the effect of the secretome of mesenchymal stem cells (MSCs) on tendon cells (TCs) followed by the combination of these activated TCs with an electrospun keratin-based scaffold to develop a tissue engineering strategy to improve tendon-bone interface (TBi) healing in a chronic MRCT rat model. STUDY DESIGN: Controlled laboratory study. METHODS: Human TCs (hTCs) cultured with the human MSCs (hMSCs) secretome (as conditioned media [CM]) were combined with keratin electrospun scaffolds and further implanted in a chronic MRCT rat model. Wistar-Han rats (N = 15) were randomly assigned to 1 of 3 groups: untreated lesion (MRCT group, n = 5), lesion treated with a scaffold only (scaffold-only group, n = 5), and lesion treated with a scaffold seeded with hTCs preconditioned with hMSCs-CM (STC_hMSC_CM group, n = 5). After sacrifice, 16 weeks after surgery, the rotator cuff TBi was harvested for histological analysis and biomechanical testing. RESULTS: The hMSCs secretome increased hTCs viability and density in vitro. In vivo, a significant improvement of the tendon maturing score was observed in the STC_hMSC_CM group (mean ± standard error of the mean, 15.6 ± 1.08) compared with the MRCT group (11.0 ± 1.38; P < .05). Biomechanical tests revealed a significant increase in the total elongation to rupture (STC_hMSC_CM, 11.99 ± 3.30 mm; scaffold-only, 9.89 ± 3.47 mm; MRCT, 5.86 ± 3.16 mm; P < .05) as well as a lower stiffness (STC_hMSC_CM, 6.25 ± 1.74 N/mm; scaffold-only, 6.72 ± 1.28 N/mm; MRCT, 11.54 ± 2.99 N/mm; P < .01). CONCLUSION: The results demonstrated that hMSCs-CM increased hTCs viability and density in vitro. Clear benefits also were observed when these primed cells were integrated into a tissue engineering strategy with an electrospun keratin scaffold, as evidenced by improved histological and biomechanical properties for the STC_hMSC_CM group compared with the MRCT group. CLINICAL RELEVANCE: This work supports further investigation into the use of MSC secretome for priming TCs toward a more differentiated phenotype, and it promotes the tissue engineering strategy as a promising modality to help improve treatment outcomes for chronic MRCTs.info:eu-repo/semantics/publishedVersio

Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS

The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

status: publishe

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

DIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo