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1.
Genet Med ; 26(3): 101042, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38063144

RESUMO

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/genética
2.
Arthroscopy ; 39(12): 2408-2419, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37270113

RESUMO

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 , Fibrose
3.
Mol Genet Metab ; 139(3): 107627, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37327713

RESUMO

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 adversos
4.
Haematologica ; 108(1): 69-82, 2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-35417938

RESUMO

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 , Genótipo
5.
Blood ; 141(17): 2100-2113, 2023 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-36542832

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/diagnóstico
6.
Arthroscopy ; 39(4): 922-930, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36343768

RESUMO

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 Articular
7.
Acta Orthop Traumatol Turc ; 57(6): 301-305, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38454210

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.


Assuntos
Desastres , Procedimentos Ortopédicos , Ortopedia , Humanos
8.
JSES Int ; 6(4): 587-595, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35813142

RESUMO

Background: Excellent results have been reported for anatomic total shoulder arthroplasty (TSA) for the treatment of primary glenohumeral osteoarthritis (GHOA). We aim to assess the recovery curve and longitudinal effects of time, age, sex, and glenoid morphology on patient-reported outcomes (PROs) after primary anatomic TSA for primary GHOA. Methods: Patients who underwent primary anatomic TSA over 5 years ago were included: Short-Form 12 Physical Component Summary, American Shoulder and Elbow Surgeons scores, Quick Disabilities of the Arm Shoulder and Hand Score, Single Assessment Numeric Evaluation, and patient satisfaction were assessed. Linear mixed-effects models were used to model progression in PROs longitudinally. Unadjusted models and models controlling for sex and age were constructed. Results: Eighty-one patients (91 shoulders) were included. Significant improvements from the preoperative period to 1 year postoperatively in the median American Shoulder and Elbow Surgeons (48 to 93; P < .001), Quick Disabilities of the Arm Shoulder and Hand Score (42 to 11; P < .001), Single Assessment Numeric Evaluation (50 to 91; P < .001), and Short-Form 12 Physical Component Summary (35 to 53; P = .004) scores were noted. No significant decrease was observed for any of the outcome scores. Median satisfaction at the final follow-up was 10 out of 10. At 1, 2, 3, 4, 5, 6, and 7 years postoperatively, 77%, 64%, 79%, 57%, 86%, 56%, and 78% of patients, respectively, reported sports participation equal to or slightly below preinjury level. There was no association between the glenoid morphology and functional outcomes. Conclusion: Patients undergoing anatomic TSA for primary GHOA showed excellent improvement in PROs and satisfaction in the first year, and these results were maintained postoperatively for a minimum of 5 years. Age- and sex-adjusted models or glenoid morphology did not substantially alter any trends in PROs postoperatively.

9.
Arthrosc Sports Med Rehabil ; 4(3): e1051-e1057, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35747636

RESUMO

Purpose: To compare the clinical and radiographic outcomes of partial rotator cuff repair (RCR) with and without implantation of a biodegradable subacromial spacer in the treatment of symptomatic irreparable massive rotator cuff tears (MRCTs). Methods: Patients with MRCT who underwent arthroscopic partial repair alone (PR) or combined with subacromial spacer augmentation (PRS) were included. Patient-reported outcomes, including visual analog scale (VAS), American Shoulder and Elbow Surgeons (ASES), and Constant scores in addition to range of motion (ROM) were collected preoperatively and at the final follow-up. Additionally, we determined the percentages of all of the patients in groups that achieved the minimal clinical important difference (MCID), substantial clinical benefit (SCB), and patient-acceptable symptomatic state (PASS) for the VAS, ASES, and Constant scores. Acromiohumeral distance (AHD) was determined as well. Results: A total of 32 patients were included. Group PR included 20 patients with a median age of 68 years (range: 64-73) and median follow-up 28.0 months (14.0-60.0). Group PRS included 12 patients with a median age of 68.5 years (range: 63-74) and median follow-up of 17.0 months (12.0-32.0). At the final follow-up, the ASES, VAS, and Constant scores were significantly higher in the PRS group (75.5 [55-88.3], 1.0 [0-3], and 70.0 [43-79], respectively, compared to the PR group (55.0 [37.5-65], 2.0 [0-4], and 55.0 [31-79], respectively; P < .05). The only statistically significant differences were found between the PR and PRS groups in terms of the proportions of the patients who achieved MCID for the ASES (70% vs. 100%; P = .04) and in terms of the proportions of the patients who achieved SCB for the ASES (60% vs 100%; P = .01) There was also statistically significant difference between the PR and PRS groups, in terms of the proportions of the patients who achieved PASS for the VAS and ASES ([30 % vs 66.7 %; P = .04] and [0 % vs 50 %; P = .001], respectively). AHD was also improved in the PRS group (8.4 [7-9.5] vs 7.85 [5.5-9]; P < .05). ROM was greater in the PRS group at final follow-up with median forward flexion degree, 140.0° (90°-150°) versus 120.0° (80°-153°) (P < .001) and median abduction degree, 100.0° (70°-130°) versus 90.0° (70°-110°). There was no difference in terms of external rotation between groups (3° [2°-5°] vs 3.0° (2°-4°); P = .4). Conclusions: Arthroscopic partial RCR with implantation of a subacromial spacer leads to satisfactory clinical and radiographic outcomes in patients with symptomatic irreparable MRCT compared with patients treated with partial repair alone. Level of Evidence: Level III, retrospective comparative study.

10.
J Orthop Trauma ; 36(11): e405-e411, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-35605145

RESUMO

OBJECTIVES: To characterize anatomic slope (sagittal alignment) of medial and lateral articular surfaces of the tibial plateau using x-ray and computed tomography (CT). METHODS: Fluoroscopy was used to acquire "perfect" anteroposterior (AP) images of 8 cadaveric knees by tilting a C-arm through a 30-degree cranial/caudal arc in 0.5-degree increments. Five surgeons independently selected perfect AP images that most accurately profiled medial and lateral articular surfaces. Corresponding angles were used to define tangent subchondral structures on sagittal CT that were considered as dominant bony landmarks in a protocol to determine tibial slope on sagittal CT in 46 additional cadaveric knees. RESULTS: Mean perfect C-arm AP angles were 4.2 degrees ± 2.6 degrees posterior for the medial plateau and 5.0 degrees ± 3.8 degrees posterior for the lateral plateau. It was noted that images acquired within a range of angles (medial range, 1.8 degrees ± 0.7 degrees; lateral range, 3.9 degrees ± 3.8 degrees) rather than a single angle adequately profiled each compartment. Using the CT protocol, mean medial slope (5.2 degrees ± 2.3 degrees posterior; range, 0.9-11.5 degrees) was less than lateral slope (7.5 degrees ± 3.0 degrees posterior; range 0.6-12.5 degrees; P < 0.001) in 54 knees. The difference between medial and lateral slopes in any individual specimen ranged from 3.1 degree more medially to 6.8 degrees more laterally. No differences were noted between right and left knees in paired specimens. CONCLUSIONS: On average, tibial slope in the lateral plateau is slightly greater than that in the medial plateau, and variation exists between compartments across patients. Because tibial slope is similar between contralateral limbs, evaluating slope on the uninjured side can provide a template for sagittal plane reduction of tibial plateau fractures.


Assuntos
Tíbia , Fraturas da Tíbia , Cadáver , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Radiografia , Tíbia/diagnóstico por imagem , Tíbia/cirurgia , Tomografia Computadorizada por Raios X/métodos
11.
Am J Med Genet C Semin Med Genet ; 190(1): 121-130, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35312150

RESUMO

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 imagem
12.
Br J Haematol ; 197(4): 467-474, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35191533

RESUMO

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 Pescoço
13.
Am J Med Genet A ; 188(3): 847-857, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34951506

RESUMO

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 imagem
14.
Arthrosc Tech ; 9(11): e1785-e1789, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33294341

RESUMO

Symptomatic spinoglenoid ganglion cyst is a rare cause of shoulder pain and disability. Surgical treatment, which may be considered after failed nonoperative treatment, includes open or arthroscopic cyst debridement. Arthroscopic treatment is less invasive and has the advantage of addressing intraarticular pathologies; however, exposure of the cyst may be deemed difficult. Furthermore, the suprascapular nerve is susceptible to iatrogenic injury owing to its close proximity to the posterior glenoid rim. The purpose of this article is to present our technique for arthroscopic spinoglenoid cyst decompression after preoperative ultrasound-guided methylene blue injection.

15.
Knee ; 27(6): 1931-1941, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33221691

RESUMO

BACKGROUND: The patellofemoral joint is often affected by torsionaldisorders of the lower limb, causing pain, instability and knee degeneration. The aims of this study were to determine functional outcomes of patients who underwent a high tibial derotation osteotomy (HTDO) for symptomatic squinting patella due to increased external tibial torsion. Moreover, factors associated with inferior clinical outcomes were investigated. METHODS: Patients with symptomatic squinting patella, increased external tibial torsion (>30°) treated with this technique, and with 2 years of follow up were included. Fulkerson and Kujala patellofemoral joint scores were assessed. Age, body mass index, history of prior surgery, increased femoral anteversion, association of lateral retinaculum release and patellar cartilage lesions were analysed. RESULTS: Sixty HTDOs were included in this retrospective study with an average of 66 months of follow up. The mean Kujala score improved from 47.5 preoperatively to 93 postoperatively. The mean Fulkerson score improved from 40.6 to 91.6. Kujala subscores for pain improved from 8.6 to 30.4, for instability improved from 6.4 to 17.9, and their ability to climb stairs increased from 6.9 to 17.9 (all P < 0.0001). Multivariate logistic regression model identified that patient age (P < 0.005) and advanced chondral damage (P < 0.001) were the dominant factors predicting inferior clinical outcomes using Kujala's score. CONCLUSION: HTDO provided good results regarding the pain symptoms, instability and the ability to climb stairs. Advanced chondral damage and advanced age had negative effects on outcomes.


Assuntos
Artropatias/cirurgia , Osteotomia/métodos , Patela/cirurgia , Articulação Patelofemoral/cirurgia , Tíbia/cirurgia , Adolescente , Adulto , Feminino , Humanos , Artropatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Patela/diagnóstico por imagem , Articulação Patelofemoral/diagnóstico por imagem , Período Pós-Operatório , Radiografia , Recidiva , Estudos Retrospectivos , Tíbia/diagnóstico por imagem , Resultado do Tratamento , Adulto Jovem
16.
Am J Sports Med ; 48(13): 3365-3375, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32191494

RESUMO

BACKGROUND: Treatment of irreparable massive rotator cuff tears (MRCTs) in patients without advanced glenohumeral osteoarthritis remains a challenge. Arthroscopic superior capsule reconstruction (SCR) represents a newer method for treatment with increasing popularity and acceptance. PURPOSE: To analyze the clinical evidence surrounding SCR and determine the current clinical outcomes postoperatively. STUDY DESIGN: Systematic review. METHODS: A systematic review of the literature was performed following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Electronic databases of PubMed, MEDLINE, Cochrane, and Google Scholar were used for the literature search. The study quality was evaluated according to the Modified Coleman Methodology Score. Studies in English evaluating SCR outcomes were included. RESULTS: Seven studies were reviewed, including 352 patients (358 shoulders) treated with arthroscopic SCR with the mean duration of follow-up ranging from 15 to 48 months (range, 12-88 months). Fourteen patients were lost to follow-up, leaving 338 patients (344 shoulders) with clinical outcome data. Graft types included dermal allografts (n = 3 studies), fascia lata autografts (n = 3), or both (n = 1). Most commonly, a double-row technique was utilized for humeral graft fixation. The most common complication included graft tears in 13% of patients, resulting in 15 SCR revisions and 7 reverse shoulder arthroplasties. Postoperatively, improvements in visual analog scale (2.5 to 5.9), American Shoulder and Elbow Surgeons (20 to 56), Japanese Orthopaedic Association (38.0), Subjective Shoulder Value (37.0 to 41.3), and Constant (11.6 to 47.4) scores were observed. Three studies reported respective satisfaction rates of 72.9%, 85.7% and 90%. Increases in external rotation, internal rotation, and abduction with improved strength in external rotation were observed postoperatively. Improvement of pseudoparalysis was also observed in 3 studies. One study reported return to sports in 100% of patients (2 competitively, 24 recreationally) with no adverse outcomes. CONCLUSION: SCR showed good to excellent short-term clinical outcomes with adequate pain relief and functional improvement. The current evidence suggests that the procedure is an alternative for symptomatic patients with irreparable MRCT; however, the included studies were fair to poor in quality, and there were some notable complications. Long-term follow-up will determine the longevity and ultimate role of this new method in the treatment of irreparable MRCT.


Assuntos
Artroscopia , Lesões do Manguito Rotador , Articulação do Ombro , Humanos , Amplitude de Movimento Articular , Manguito Rotador/cirurgia , Lesões do Manguito Rotador/cirurgia , Articulação do Ombro/cirurgia , Resultado do Tratamento
18.
Arthroscopy ; 36(6): 1523-1532, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32057982

RESUMO

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 Sutura
19.
Am J Sports Med ; 48(1): 252-261, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-30855979

RESUMO

BACKGROUND: Return to sport (RTS) remains an important challenge and measure of success for athletes undergoing arthroscopic rotator cuff repair (RCR). PURPOSE: To determine the rate of RTS after RCR and to analyze predictive factors associated with a lower rate of return. STUDY DESIGN: Systematic review and meta-analysis. METHODS: A systematic review of the literature was performed following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The electronic databases of PubMed, MEDLINE, Cochrane, and Google Scholar were used for the literature search. Study quality was evaluated according to the Coleman Methodology Score. Studies in English evaluating RTS after arthroscopic repair of partial- or full-thickness rotator cuff tears among athletes of all levels, ages, and sports were included. Random effects meta-analysis and metaregression were performed to investigate RTS activity rate after arthroscopic RCR and to explore study heterogeneity, respectively. RESULTS: Fifteen studies were reviewed, including 486 patients (499 shoulders) who were treated with arthroscopic RCR and who had a mean follow-up of 40.1 months (range, 18-74.4 months). Eighteen patients were lost to follow-up, leaving 468 patients with outcome data; 347 identified themselves as athletes (81 competitive, 266 recreational). The most commonly included sports were baseball (n = 45), golf (n = 38), football (n = 23), and tennis (n = 18). RTS specific to the type of athlete was reported for 299 of 347 athletes. According to the meta-analysis, the overall rate of RTS at a similar level of play or higher was 70.2%, with 73.3% of recreational athletes and 61.5% of competitive athletes able to return. A subset of 43 baseball and softball players across 4 studies yielded a 79% rate of RTS; however, only 38% returned to the same level of play or higher. Subgroup meta-analysis revealed no significant difference in the rate of RTS between competitive and recreational athletes. Metaregression analysis revealed that the mean follow-up time and mean age at surgery were not significantly associated with RTS rate. CONCLUSION: Most athletes (70.2%) were able to return to a preinjury level of play after arthroscopic RCR. While recreational sports participation (73.3%) was associated with higher return, competitive sports (61.5%) and overhead sports (38%) were associated with lower return. Exactly why all athletes do not return remains uncertain and likely multifactorial.


Assuntos
Artroscopia/métodos , Volta ao Esporte , Lesões do Manguito Rotador/cirurgia , Atletas , Humanos , Articulação do Ombro/cirurgia , Resultado do Tratamento
20.
Am J Sports Med ; 48(3): 744-753, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31038992

RESUMO

BACKGROUND: The indications and outcomes for rotator cuff repair (RCR) among patients ≥70 years old are not widely reported. Many active patients in this age range desire a joint-preserving option, and several small series reported successful clinical outcomes after RCR among patients aged ≥70 years. PURPOSE: To systematically review the literature on the outcomes of RCR among patients ≥70 years old. STUDY DESIGN: Systematic review; Level of evidence, 4. METHODS: A systematic review of the literature was performed following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The electronic databases of PubMed and Cochrane were used for the literature search. The quality of the included studies was evaluated according to the Coleman Methodology Score. Studies in English evaluating repair of full-thickness rotator cuff tears among patients aged ≥70 years were included. RESULTS: Eleven studies were reviewed, including 680 patients (694 shoulders) who were treated with arthroscopic and/or open RCR with a mean follow-up of 24.2 months (range, 12-40.8 months). Forty patients were lost to follow-up, leaving 654 shoulders with outcome data. This age group demonstrated a significant increase in clinical and functional outcomes after RCR with high satisfaction. American Shoulder and Elbow Surgeons scores showed an improvement from 44.2 (range, 35.4-56) preoperatively to 87.9 (range, 84-90.3) postoperatively, while Constant scores improved from 41.7 (range, 22.6-53.6) to 70.8 (range, 58.6-76). Postoperative imaging evaluation was performed on 513 shoulders, revealing a retear rate of 27.1% (139 shoulders). There were 45 retears after open repair and 94 after arthroscopic repair. The difference in retear rate among patients receiving arthroscopic repairs was not significantly different than open repairs (P = .831). Pain according to a visual analog scale improved from 5.5 (range, 4.6-6.4) preoperatively to 1.3 (range, 0.5-2.3) postoperatively. CONCLUSION: RCR among patients ≥70 years old shows high clinical success rates with good outcomes and overall excellent pain relief. Although patients in this age group have a high potential for retear or persistent defects on imaging studies, RCR offers a joint-preserving option with significant functional and clinical improvement for the appropriately indicated patient.


Assuntos
Artroscopia/métodos , Dor/cirurgia , Lesões do Manguito Rotador/cirurgia , Idoso , Humanos , Período Pós-Operatório , Amplitude de Movimento Articular , Ombro/cirurgia , Resultado do Tratamento , Escala Visual Analógica
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