RESUMO
The choice to postpone treatment while awaiting genetic testing can result in significant delay in definitive therapies in patients with severe pancytopenia. Conversely, the misdiagnosis of inherited bone marrow failure (BMF) can expose patients to ineffectual and expensive therapies, toxic transplant conditioning regimens, and inappropriate use of an affected family member as a stem cell donor. To predict the likelihood of patients having acquired or inherited BMF, we developed a 2-step data-driven machine-learning model using 25 clinical and laboratory variables typically recorded at the initial clinical encounter. For model development, patients were labeled as having acquired or inherited BMF depending on their genomic data. Data sets were unbiasedly clustered, and an ensemble model was trained with cases from the largest cluster of a training cohort (n = 359) and validated with an independent cohort (n = 127). Cluster A, the largest group, was mostly immune or inherited aplastic anemia, whereas cluster B comprised underrepresented BMF phenotypes and was not included in the next step of data modeling because of a small sample size. The ensemble cluster A-specific model was accurate (89%) to predict BMF etiology, correctly predicting inherited and likely immune BMF in 79% and 92% of cases, respectively. Our model represents a practical guide for BMF diagnosis and highlights the importance of clinical and laboratory variables in the initial evaluation, particularly telomere length. Our tool can be potentially used by general hematologists and health care providers not specialized in BMF, and in under-resourced centers, to prioritize patients for genetic testing or for expeditious treatment.
Assuntos
Anemia Aplástica , Doenças da Medula Óssea , Pancitopenia , Humanos , Doenças da Medula Óssea/diagnóstico , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/terapia , Diagnóstico Diferencial , Anemia Aplástica/diagnóstico , Anemia Aplástica/genética , Anemia Aplástica/terapia , Transtornos da Insuficiência da Medula Óssea/diagnóstico , Pancitopenia/diagnósticoRESUMO
PURPOSE: Fanconi anemia (FA) is a bone marrow failure and cancer predisposition syndrome caused primarily by biallelic pathogenic variants in 1 of 22 genes involved in DNA interstrand cross-link repair. An enduring question concerns cancer risk of those with a single pathogenic FA gene variant. To investigate all FA genes, this study utilized the DiscovEHR cohort of 170,503 individuals with exome sequencing and electronic health data. METHODS: 5822 subjects with a single pathogenic variant in an FA gene were identified. Two control groups were used in primary analysis deriving cancer risk signals. Secondary exploratory analysis was conducted using the UK Biobank and The Cancer Genome Atlas. RESULTS: Signals for elevated cancer risk were found in all 5 known cancer predisposition genes. Among the remaining 15 genes associated with autosomal recessive inheritance cancer risk signals were found for 4 cancers across 3 genes in the primary cohort but were not validated in secondary cohorts. CONCLUSION: To our knowledge, this is the first and largest FA heterozygote study to use genomic ascertainment and validates well-established cancer predispositions in 5 genes, whereas finding insufficient evidence of predisposition in 15 others. Our findings inform clinical surveillance given how common pathogenic FA variants are in the population.
Assuntos
Anemia de Fanconi , Neoplasias , Humanos , Proteínas de Grupos de Complementação da Anemia de Fanconi/genética , Heterozigoto , Anemia de Fanconi/genética , Anemia de Fanconi/patologia , Genótipo , Neoplasias/epidemiologia , Neoplasias/genéticaRESUMO
Hyperammonemia has been reported following asparaginase administration, consistent with the mechanisms of asparaginase, which catabolizes asparagine to aspartic acid and ammonia, and secondarily converts glutamine to glutamate and ammonia. However, there are only a few reports on the treatment of these patients, which varies widely from watchful waiting to treatment with lactulose, protein restriction, sodium benzoate, and phenylbutyrate to dialysis. While many patients with reported asparaginase-induced hyperammonemia (AIH) are asymptomatic, some have severe complications and even fatal outcomes despite medical intervention. Here, we present a cohort of five pediatric patients with symptomatic AIH, which occurred after switching patients from polyethylene glycolated (PEG)- asparaginase to recombinant Crisantaspase Pseudomonas fluorescens (4 patients) or Erwinia (1 patient) asparaginase, and discuss their subsequent management, metabolic workup, and genetic testing. We developed an institutional management plan, which gradually evolved based on our local experience and previous treatment modalities. Because of the significant reduction in glutamine levels after asparaginase administration, sodium benzoate should be used as a first-line ammonia scavenger for symptomatic AIH instead of sodium phenylacetate or phenylbutyrate. This approach facilitated continuation of asparaginase doses, which is known to improve cancer outcomes. We also discuss the potential contribution of genetic modifiers to AIH. Our data highlights the need for increased awareness of symptomatic AIH, especially when an asparaginase with higher glutaminase activity is used, and its prompt management. The utility and efficacy of this management approach should be systematically investigated in a larger cohort of patients.
Assuntos
Antineoplásicos , Hiperamonemia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Criança , Asparaginase/efeitos adversos , Fenilbutiratos/uso terapêutico , Hiperamonemia/induzido quimicamente , Hiperamonemia/tratamento farmacológico , Benzoato de Sódio/efeitos adversos , Glutamina/efeitos adversos , Amônia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/induzido quimicamente , Resultado do Tratamento , Antineoplásicos/efeitos adversosRESUMO
Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure (BMF) and increased cancer risk. We conducted a genotype-phenotype and outcomes study of 203 patients with FA in our cohort. We compared across the genes, FA/BRCA DNA repair pathways (upstream, ID complex and downstream), and type of pathogenic variants (hypomorphic or null). We explored differences between the patients evaluated in our clinic (clinic cohort) and those who provided data remotely (field cohort). Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-esophageal fistula, Esophageal/duodenal atresia, Renal, Limb, Hydrocephalus) association and/or PHENOS (Pigmentation, small-Head, small-Eyes, Neurologic, Otologic, Short stature) features]. ID complex was associated with VACTERL-H. The clinic cohort had more PHENOS features than the field cohort. PHENOS was associated with increased risk of BMF, and VACTERL-H with hypothyroidism. The cumulative incidence of severe BMF was 70%, solid tumors (ST) 20% and leukemia 6.5% as the first event. Head and neck and gynecological cancers were the most common ST, with further increased risk after hematopoietic cell transplantation. Among patients with FANCA, variants in exons 27-30 were associated with higher frequency of ST. Overall median survival was 37 years; patients with leukemia or FANCD1/BRCA2 variants had poorest survival. Patients with variants in the upstream complex had better survival than ID or downstream complex (p=0.001 and 0.016, respectively). FA is phenotypically and genotypically heterogeneous; detailed characterization provides new insights towards understanding this complex syndrome and guiding clinical management.
Assuntos
Anemia de Fanconi , Leucemia , Neoplasias , Estados Unidos , Humanos , Anemia de Fanconi/genética , Anemia de Fanconi/terapia , National Cancer Institute (U.S.) , Fenótipo , Neoplasias/genética , GenótipoRESUMO
PURPOSE: The purpose of the current study was to create a dynamic cadaveric shoulder model to determine the effect of graft fixation angle on shoulder biomechanics following SCR and to assess which commonly used fixation angle (30° vs 45° of abduction) results in superior glenohumeral biomechanics. METHODS: Twelve fresh-frozen cadaveric shoulders were evaluated using a dynamic shoulder testing system. Humeral head translation, subacromial and glenohumeral contact pressures were compared among 4 conditions: 1) Intact, 2) Irreparable supra- and infraspinatus tendon tear, 3) SCR using acellular dermal allograft (ADA) fixation at 30° of abduction, and 4) SCR with ADA fixation at 45° of abduction. RESULTS: SCR at both 30° (0.287 mm, CI: -0.480 - 1.05 mm; P < .0001) and 45° (0.528 mm, CI: -0.239-1.305 mm; P = .0006) significantly decreased superior translation compared to the irreparably torn state. No significant changes in subacromial peak contact pressure were observed between any states. The average glenohumeral contact pressure increased significantly following creation of an irreparable RCT (373 kPa, CI: 304-443 vs 283 kPa, CI 214-352; P = .0147). The SCR performed at 45° (295 kPa, CI: 226-365, P = .0394) of abduction significantly decreased the average glenohumeral contact pressure compared to the RCT state. There was no statistically significant difference between the average glenohumeral contact pressure of the intact state and SCR at 30° and 45°. CONCLUSION: SCR improved the superior stability of the glenohumeral joint when the graft was secured at 30° or 45° of glenohumeral abduction. Fixation at 45° of glenohumeral abduction provided more stability than did fixation at 30°. CLINICAL RELEVANCE: Grafts attached at 45° of glenohumeral abduction biomechanically restore the glenohumeral stability after SCR using ADA better than fixation at 30° of glenohumeral abduction.
Assuntos
Lacerações , Lesões do Manguito Rotador , Articulação do Ombro , Humanos , Lesões do Manguito Rotador/cirurgia , Articulação do Ombro/cirurgia , Manguito Rotador/cirurgia , Fenômenos Biomecânicos , Aloenxertos , Cadáver , Amplitude de Movimento ArticularRESUMO
PURPOSE: To investigate the effects of combining bone marrow stimulation (BMS) with oral losartan to block transforming growth factor ß1 (TGF-ß1) on biomechanical repair strength in a rabbit chronic injury model. METHODS: Forty rabbits were randomly allocated into 4 groups (10 in each group). The supraspinatus tendon was detached and left alone for 6 weeks to establish a rabbit chronic injury model and was then repaired in a surgical procedure using a transosseous, linked, crossing repair construct. The animals were divided into the following groups: control group (group C), surgical repair only; BMS group (group B), surgical repair with BMS of the tuberosity; losartan group (group L), surgical repair plus oral losartan (TGF-ß1 blocker) for 8 weeks; and BMS-plus-losartan group (group BL), surgical repair plus BMS plus oral losartan for 8 weeks. At 8 weeks after repair, biomechanical and histologic evaluations were performed. RESULTS: The biomechanical testing results showed significantly higher ultimate load to failure in group BL than in group B (P = .029) but not compared with group C or group L. A 2 × 2 analysis-of-variance model found that the effect of losartan on ultimate load significantly depended on whether BMS was performed (interaction term F1,28 = 5.78, P = .018). No difference was found between the other groups. No difference in stiffness was found between any groups. On histologic assessment, groups B, L, and BL showed improved tendon morphology and an organized type I collagen matrix with less type III collagen compared with group C. Group BL showed the most highly organized tendon matrix with more type I collagen and less type III collagen, which indicates less fibrosis. Similar results were found at the bone-tendon interface. CONCLUSIONS: Rotator cuff repair combined with oral losartan and BMS of the greater tuberosity showed improved pullout strength and a highly organized tendon matrix in this rabbit chronic injury model. CLINICAL RELEVANCE: Tendon healing or scarring is accompanied by the formation of fibrosis, which has been shown to result in compromised biomechanical properties, and is therefore a potential limiting factor in healing after rotator cuff repair. TGF-ß1 expression has been shown to play an important role in the formation of fibrosis. Recent studies focusing on muscle healing and cartilage repair have found that the downregulation of TGF-ß1 by losartan intake can reduce fibrosis and improve tissue regeneration in animal models.
Assuntos
Medula Óssea , Losartan , Animais , Coelhos , Losartan/farmacologia , Losartan/uso terapêutico , Fator de Crescimento Transformador beta1 , Colágeno Tipo I , Colágeno Tipo III , Tendões/cirurgia , FibroseRESUMO
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a high level of clinical suspicion of JS so that the diagnostic brain imaging and/or molecular testing for the >38 genes associated with JS is/are obtained. The goal of this study was to analyze clinical photographs of a cohort of patients with JS to define a list of physical examination features that should prompt investigation for JS. Analysis of photographs from 94 individuals with JS revealed that there is a recognizable pattern of facial features in JS that changes over time as individuals age. Macrocephaly, head tilting even when looking straight ahead, eye movement abnormalities (oculomotor apraxia, nystagmus, strabismus), and ptosis are common in those with JS. Distinctive features in younger children include triangular-shaped open mouth with tongue protrusion; in older children and adults, mandibular prognathia and prominent nasal bridge are common.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Criança , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Feminino , Humanos , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Imageamento por Ressonância Magnética , Masculino , Hipotonia Muscular , Exame Físico , Retina/anormalidades , Retina/diagnóstico por imagemRESUMO
Fanconi anaemia (FA) is an inherited bone marrow failure syndrome (IBMFS) with a high cancer predisposition rate. Traditional diagnoses are made before age 10 years due to bone marrow failure (BMF) and characteristic birth defects. Up to 10% of published cases were adults at diagnosis. We hypothesized that FA subgroups diagnosed in childhood are distinct from those diagnosed as adults. We classified patients by age at diagnosis of FA as FA-PED (<18 years) or FA-ADULT (≥18 years). The National Cancer Institute IBMFS cohort included 178 FA-PED and 26 FA-ADULT cases. We compared various features; the cumulative incidences of first adverse events (severe BMF leading to haematopoietic cell transplant or death, leukaemia, or solid tumours) were compared using competing-risk analyses. FA-ADULT lacked the 'typical' FA features (birth defects and early-onset BMF or leukaemia), were mainly female, had more patients with FANCA genotype, and had or developed more head and neck squamous-cell carcinoma (HNSCC) and/or gynaecological cancers compared with FA-PED, albeit at similar ages in both subgroups. FA-ADULT is a distinct subgroup that remained unrecognized during childhood. Centres for adult haematology-oncology should consider FA diagnosis in patients with early-onset HNSCC or gynaecological cancer with or without haematologic problems.
Assuntos
Anemia de Fanconi , Neoplasias de Cabeça e Pescoço , Transplante de Células-Tronco Hematopoéticas , Leucemia , Adulto , Transtornos da Insuficiência da Medula Óssea , Criança , Síndrome Congênita de Insuficiência da Medula Óssea , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Humanos , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
Joubert syndrome (JS) is a genetically heterogenous disorder of nonmotile cilia with a characteristic "molar tooth sign" on axial brain imaging. Clinical features can include developmental delay, kidney failure, liver disease, and retinal dystrophy. Prospective growth and measurement data on 170 individuals with JS were collected, including parental measurements, birth measurements, and serial measures when available. Analysis of growth parameters in the context of hepatorenal disease, genotype, and other features was performed on 100 individuals assessed at the National Institutes of Health Clinical Center. Individuals with JS had shorter stature despite normal growth velocity and were shorter than predicted for mid-parental height. Individuals were lighter in weight, resulting in a normal body mass index (BMI). Head circumference was larger, averaging 1.9 Z-scores above height. At birth, head circumference was proportional to length. Individuals with variants in CPLANE1 had a larger head circumference compared to other genotypes; individuals with evidence of liver disease had lower weight and BMI; and individuals with polydactyly had shorter height. Here we present growth curves and physical measurements for Joubert syndrome based on the largest collection of individuals with this disorder to aid in clinical management and diagnosis.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Feminino , Genótipo , Humanos , Recém-Nascido , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Masculino , Estudos Prospectivos , Retina/anormalidades , Retina/diagnóstico por imagemRESUMO
PURPOSE: The purpose of this study was to compare the clinical, functional, and radiographic outcomes of open versus arthroscopic Latarjet procedures. METHODS: Between December 2009 to January 2015, all patients older than 18 years of age who were treated with a Latarjet procedure for chronic osseous anterior instability by a single surgeon were included in this retrospective cohort study. Range of motion, strength, Rowe, Western Ontario Shoulder Instability Index (WOSI) scores, and pain level according to the Visual Analog Scale (VAS) were evaluated. In addition, postoperative computed tomography scans were used to evaluate the position of the transferred coracoid, screw orientation, and degree of graft resorption. RESULTS: Forty-eight patients with a mean age of 29.5 years (range 19-59 years) who underwent open (n = 15; group OL) and arthroscopic (n = 33; group AL) Latarjet procedures were included in the study. The mean follow-up was 30.5 months (range 24-50 months). At final follow-up there were significant differences in the mean internal rotation loss (mean of 9° vs 14°, P = .044) favoring open surgery and WOSI (P = .017) scores favoring arthroscopic. No significant differences were detected in mean forward flexion loss (P = .918), external rotation loss (P = .883), Rowe (P = .429), and Visual Analog Scale (P = .208) scores. Mean superoinferior position of the coracoid bone graft was found between the 1:55 and 4:49 o'clock positions (2:05-4:55 for group OL; 1:51-4:47 for group AL) in en-face views. The grafts were placed laterally in 13% (group OL) and 9% (group AL) of patients. The mean α angles of the screws were 11° and 19.2°, respectively (P = .004). The mean graft resorption rates were 21% and 34% (P = .087), respectively. CONCLUSION: Good functional results were obtained after both open and arthroscopic Latarjet procedures for the treatment of chronic osseous anterior shoulder instability. Comparative analysis showed small but statistically significant differences in internal rotation loss favoring open and in WOSI favoring arthroscopic techniques. All measured radiographic parameters were similar with the exception of a significant difference in alpha angle with improved screw position in open surgery. OL and AL techniques provide similar clinical and radiographic outcomes. LEVEL OF EVIDENCE: III; Retrospective cohort study with comparison group.
Assuntos
Artroscopia/métodos , Instabilidade Articular/cirurgia , Procedimentos Ortopédicos/métodos , Articulação do Ombro/cirurgia , Adolescente , Adulto , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Escápula/transplante , Escala Visual Analógica , Adulto JovemRESUMO
PURPOSE: To evaluate the biomechanical performance of Bankart repair using 1.8-mm knotless all-suture anchors in comparison to 1.8-mm knotted all-suture anchors with both simple and horizontal mattress stitch configurations. METHODS: Thirty fresh-frozen human cadaveric shoulders were dissected to the capsule, leaving the glenoid and humeral capsular insertions intact. A standardized anteroinferior labral tear was created and repaired using 3 anchors. A 2 × 2 factorial design was implemented, with 6 matched pairs randomized between knotless and knotted anchor repairs and 6 matched pairs randomized into simple and horizontal mattress stitch configurations. In addition, 6 unpaired shoulders were used to evaluate the native capsulolabral state. First failure load, ultimate load, and stiffness were assessed. Linear mixed-effects modeling was used to compare endpoints. Digital image correlation was used to evaluate capsular strain throughout testing. Failure modes were reported qualitatively. RESULTS: The knotless all-suture anchor repair showed similar biomechanical strength to the knotted all-suture anchors for first failure load (coefficient, 142 N; 95% confidence interval [CI], -30 to 314 N; P = .12), ultimate load (coefficient, 11.1 N; 95% CI, -104.9 to 127.2 N; P = .847), and stiffness (coefficient, 3.4 N/mm2; 95% CI, -14.1 to 20.9 N/mm2; P = .697) when stitch configuration was held constant. No statistically significant differences were found on comparison of simple and mattress stitch configurations for first failure load (coefficient, -31 N; 95% CI, -205 to 143 N; P = .720), ultimate load (coefficient, 112 N; 95% CI, -321 to 97 N; P = .291), and stiffness (coefficient, -9.6 N/mm2; 95% CI, -27.3 to 8.1 N/mm2; P = .284) when anchor type was held constant. Specimens with knotless anchors and simple stitch techniques resulted in lower stiffness compared with the native state (P = .030). The knotless-mattress configuration resulted in significantly lower strain than the knotted-mattress (P = .037) and knotless-simple (P = .019) configurations and was the only configuration that did not result in a significant increase in strain compared with the intact specimens (P = .216). Fewer instances of suture slippage (loss of loop security) were observed with knotless anchors versus knotted anchors (11% vs 30%), and less soft-tissue failure was observed with the mattress stitch configuration versus the simple stitch configuration (36% vs 47%). CONCLUSIONS: Knotless and knotted all-suture anchor repairs with simple and mattress stitch configurations showed similar values of ultimate load, first failure load, and stiffness. However, the horizontal mattress stitch configuration proved to decrease capsular strain more similarly to the native state compared with the simple stitch configuration. Ultimate load and first failure load for all repairs were similar to those of the native state. CLINICAL RELEVANCE: Knotless all-suture anchors have a smaller diameter than solid anchors, can be inserted through curved guides, and preserve glenoid bone stock. This study presents knotless, tensionable all-suture anchor repair for labral tears that displays high biomechanical fixation strength, similar to the native capsulolabral state.
Assuntos
Lesões do Manguito Rotador/cirurgia , Âncoras de Sutura , Adulto , Fenômenos Biomecânicos , Cadáver , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Técnicas de SuturaRESUMO
The purpose of this study was to evaluate biomechanical and histopathological results of a retrieved acellular human dermal allograft (AHDA) after superior capsule reconstruction (SCR). A 67-year-old man with pseudoparalysis was treated with SCR for an irreparable posterosuperior rotator cuff tear. The patient failed clinically 4.5 months postoperatively and elected to undergo reverse total shoulder arthroplasty (RTSA). At the time of RTSA, the AHDA was harvested. Biomechanical and histopathologic analyses were performed and compared to native grafts. Failure loads for the explanted graft and native grafts 1 and 2 were 158, 790, and 749 N, respectively. The stiffness values were 20.2, 73, and 100.5 N/mm. The displacement at failure for each graft was 10.1, 27.9, and 17.0 mm. Hematoxylin and eosin and Masson's trichrome staining revealed the presence of cells in all portions of the AHDA. The medial portion presented extensive cellular infiltration, the middle portion moderate, and the lateral portion the least infiltration. Although the only identifiable cells in the lateral portions were found in pockets on the interior of the graft, cells were mainly localized on the exterior. Postoperative cell incorporation could be found in acellular dermal allograft after SCR. However, biomechanical properties in the early postoperative phase were inferior compared with unimplanted allografts.
Assuntos
Derme Acelular , Lesões do Manguito Rotador/cirurgia , Manguito Rotador/cirurgia , Articulação do Ombro/cirurgia , Transplante de Pele , Idoso , Aloenxertos , Artroplastia , Artroplastia do Ombro , Fenômenos Biomecânicos , Cadáver , Humanos , Masculino , Debilidade Muscular , Manguito Rotador/diagnóstico por imagem , Lesões do Manguito Rotador/diagnóstico por imagem , Articulação do Ombro/diagnóstico por imagem , Estresse Mecânico , Tomografia Computadorizada por Raios X , Transplante HomólogoRESUMO
PURPOSE: To determine the management of torsional humeral shaft fractures in a group of expert shoulder and elbow surgeons and analyse the rate of return to sport of these throwing athletes. METHODS: A survey was sent to all physician members of two prominent sports medicine professional associations: the American Shoulder and Elbow Surgeons and the Herodicus Society. Due to the rare nature of this injury, a historical survey of management and return to play was performed to allow analysis of trends in treatment and return to play after both non-operative and operative management. RESULTS: The survey was emailed to 858 physician members. Out of the 95 respondents, 35 surgeons indicated they had treated ≥ 1 torsional humeral shaft fractures in throwing athletes (average 1.7 per surgeon). A total of 72 fractures were recorded with an average age of 20.4 years and the majority being male (68/72). Eighty-one percent (58/72) of the fractures were classified as simple spiral. Sixty-one percent (44/72) of the fractures were treated non-operatively, while 35% (25/72) of the fractures were treated by open reduction and internal fixation (ORIF). Patient age, return to sport rate and level, type of fracture, and fracture healing time did not significantly differ based on treatment type. Average time to return to sport was significantly shorter for patients who underwent ORIF compared to non-operative treatment (p = 0.001). Overall, 48 (92.3%) of the 52 athletes returned to sport, with 84% (36/43) returning to the same level of play. CONCLUSION: Torsional humeral shaft fractures in throwers are most commonly seen in young men and can be treated both operatively and non-operatively with overall similar results for healing time, rate of non-union, and return to sport. The only significant difference in the groups was an earlier return to sports in those fixed surgically, however, operative intervention also yielded a higher complication rate. Regardless of the treatment method, the overall rate of return to play was moderate. These finding are clinically relevant and can assist physicians with decision making for treatment and can help when advising throwers of appropriate expectations for recovery after this injury. LEVEL OF EVIDENCE: IV.
Assuntos
Fraturas do Úmero/terapia , Padrões de Prática Médica/estatística & dados numéricos , Volta ao Esporte , Adolescente , Adulto , Braquetes/estatística & dados numéricos , Criança , Feminino , Fixação Interna de Fraturas/estatística & dados numéricos , Consolidação da Fratura , Fraturas Fechadas/terapia , Humanos , Imobilização/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Redução Aberta/estatística & dados numéricos , Modalidades de Fisioterapia , Cuidados Pós-Operatórios , Inquéritos e Questionários , Adulto JovemRESUMO
Open repair has been regarded as the gold standard for the treatment of subscapularis tendon tears. However, recent studies on newer arthroscopic techniques and published results of arthroscopic repair have shown promising results. As such, there exists a growing interest in understanding the best fixation technique to obtain successful functional and patient-reported clinical outcomes. While the literature shows superior outcomes after double-row repair for posterosuperior rotator cuff tears compared with single-row repair, the evidence is inconclusive for subscapularis tears. We believe that arthroscopic double-row transosseous equivalent repair of full-thickness subscapularis tears leads to superior clinical outcomes with higher healing rates and will become the standard of care in the future.
Assuntos
Lesões do Manguito Rotador , Manguito Rotador/cirurgia , Artroscopia , Humanos , Técnicas de Sutura , SuturasRESUMO
BACKGROUND: The acromion index (AI), critical shoulder angle (CSA) and lateral acromion angle (LAA) are predictive for degenerative rotatory cuff tears. Their unfavorable values are associated with a suboptimal deltoid force vector. The aim of this study was to evaluate whether an optimization of the radiological parameters could be achieved through a specific arthroscopic lateral acromion resection (ALAR). MATERIALS AND METHODS: The procedure was performed in eight fresh frozen cadaver shoulders. True a.p. and axial radiographs were taken before and after the intervention for radiological evaluation. The anterior and posterior acromion edges were marked with a spinal needle. Then 1 cm of the lateral acromion was resected with a 5.0 acromionizer (Arthrex Inc., Naples, FL, USA) beginning from the anterior aspect. The resection was completed over the total width of 1 cm from anterior to posterior. Finally the deltoid insertion was dissected via an open approach to ensure its integrity. The fluoroscopy images were evaluated regarding the pre- and postinterventional parameters AI, CSA and LAA. RESULTS: After the intervention, the mean AI could be significantly reduced from 0.62 ± 0.11 to 0.40 ± 0.15 (p = 0.012). Also the mean CSA was significantly reduced from 35.0° ± 7.65° to 25.12° ± 8.29° (p = 0.018). The LAA could not be significantly changed (76.5° ± 14.02° vs. 82.13 ± 8.93; p = 0.107). There was no injury to the deltoid insertion. CONCLUSION: The radiographic parameters AI und CSA can be optimized significantly by ALAR without macroscopic discontinuity of the deltoid insertion. LEVEL OF EVIDENCE: Level IV, case series without comparison group.
Assuntos
Acrômio/cirurgia , Artroscopia/métodos , Lesões do Manguito Rotador/cirurgia , Manguito Rotador/cirurgia , Articulação do Ombro/cirurgia , Acrômio/diagnóstico por imagem , Cadáver , Músculo Deltoide , Fluoroscopia , Humanos , Escápula/diagnóstico por imagem , Articulação do Ombro/diagnóstico por imagemRESUMO
BACKGROUND: Lateral epicondylitis is a common disease of the common extensor origin at the lateral humerus. Despite its common self-limitation it can lead to chronic therapy-resistant pain with remarkable functional disability of the affected arm. OBJECTIVES: Different conservative and operative treatment options of lateral epicondylitis are described and compared regarding benefits and risks. Additionally, recent surgical techniques and their complications are mentioned. Based on the current literature, it is shown which treatment option can be recommended. METHODS: This review was based on the literature analysis in PubMed regarding "conservative and operative therapy of lateral epicondylitis" as well as the clinical experience of the authors. RESULTS: Conservative treatment is the primary choice for the treatment of lateral epicondylitis if concomitant pathologies such as instability among others can be excluded. It should include strengthening against resistance with eccentric stretching of the extensor group. In persistent cases, operative treatment is warranted. Resection of the pathologic tissue at the extensor origin with debridement and refixation of the healthy tendinous tissue yields good results. CONCLUSIONS: Most patients with lateral epicondylitis can be treated conservatively with success. Radiological evaluation should be performed in therapy-resistant cases. In the case of partial or complete rupture of the extensor origin, operative therapy is indicated.
Assuntos
Corticosteroides/uso terapêutico , Imunossupressores/uso terapêutico , Cotovelo de Tenista/diagnóstico , Cotovelo de Tenista/terapia , Tenotomia/métodos , Tomografia Computadorizada por Raios X/métodos , Terapia Combinada/métodos , Resultado do TratamentoRESUMO
Negative pressure wound therapy has been lately used on closed incisions in the immediate postoperative period to accelerate wound healing. However, there are no data in the literature regarding the use of this type of therapy for wounds with persistent secretion in the early postoperative care. We present the first report of persistent postoperative serous wound secretion in a patient after femoral nailing treated successfully with Prevena™ (KCI), a closed incision negative pressure management system (CINPWT).
Assuntos
Fixação Interna de Fraturas/efeitos adversos , Fraturas do Quadril/cirurgia , Tratamento de Ferimentos com Pressão Negativa , Infecção da Ferida Cirúrgica/terapia , Idoso , Humanos , Masculino , Infecção da Ferida Cirúrgica/diagnóstico , Infecção da Ferida Cirúrgica/etiologia , CicatrizaçãoRESUMO
Fanconi anemia (FA) is an inherited bone marrow failure syndrome (IBMFS) characterized by pathogenic variants in the FA/BRCA DNA repair pathway genes. Individuals with FA have an elevated risk of developing myelodysplastic syndrome, acute myeloid leukemia, and solid tumors. Hematopoietic cell transplantation (HCT) is the most effective treatment for FA related bone marrow failure but can increase the risk of cancer development. Information on benign tumors and NMSC is lacking in patients with FA. Our objective was to characterize patients with FA enrolled in the National Cancer Institute IBMFS Study who have experienced non-melanoma skin cancers (NMSC) and/or benign tumors (BT). A total of 200 patients diagnosed with FA were enrolled in the Institutional Review Board approved study "Etiologic Investigation of Cancer Susceptibility in IBMFS: A Natural History Study" (NCT00027274). Through medical records review, we identified 30 patients with at least one NMSC, either squamous or basal cell carcinoma, or benign tumor. The remaining 170 patients comprised the control group. Out of 200 patients, 12 had NMSC, 25 had benign tumors, with an age range of 11-64 and 0-56 years, respectively. The median age at HCT was 30.5 years for NMSC patients, 9 years for benign tumor patients, and 9.1 years for controls. The most common genotype observed was FANCA, followed by FANCC and FANCI. Benign tumors spanned diverse anatomical locations. Early onset NMSC in patients with FA compared to the general population emphasizes the need for consistent monitoring in patients with FA, while the diverse anatomical locations of benign tumors underscore the importance of comprehensive surveillance for timely interventions in managing symptomatology and heightened cancer risk.
RESUMO
BACKGROUND: Distal femur fractures remain treatment challenges with a considerable postoperative non-union rate. Concern remains that surgery may compromise osseous vascularity. This study aimed to determine effects of retrograde femoral intramedullary nailing (RFIN) on distal femur vascularity, and the locations of the middle genicular artery terminal branches in relation to the standard RFIN entry point. METHODS: Five lower limb cadaveric pairs were obtained (ten specimens). Experimental limbs were randomly assigned, and contralateral limbs served as controls. An 11 mm femoral nail was implanted in experimental specimens. Controls only underwent a medial parapatellar incision with capsulotomy. Quantitative pre- and post-contrast-MRI was performed to assess arterial contributions to distal femur regions. Osseous vascularity was further evaluated with contrast-CT imaging. Next, specimens were injected with latex medium, and dissection was performed to assess extraosseous vasculature. RESULTS: No statistically significant differences were found with quantitative-MRI in experimental and control groups for the entire distal femur or individual regions. The experimental group demonstrated a small mean decrease of 1.4% in distal femur arterial contributions. CT and anatomic dissection confirmed maintenance of middle genicular artery terminal branches. On average, 3.3 (±1.3) terminal branches entered along the posterior intercondylar notch. A mean distance of 15.2 mm (±6.9 mm) was found between the posterior RFIN entry point and these terminal branches. CONCLUSIONS: RFIN did not significantly alter arterial contributions to the distal femur or disrupt the middle genicular artery terminal branches. However, care must be taken to ensure nail entry point accuracy given proximity of the entry point to terminal branches.
RESUMO
Orthopedic injuries are a common occurrence in disasters. In the aftermath of a disaster, there may be a large number of patients with orthopedic injuries, and the health-care system may be overwhelmed. This review hopes to provide a review of modern concepts in disaster orthopedics.