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1.
Knee ; 49: 257-265, 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39047325

RESUMEN

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.

2.
Fam Cancer ; 2024 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-38907138

RESUMEN

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.

3.
Genet Med ; 26(3): 101042, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38063144

RESUMEN

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.


Asunto(s)
Anemia de Fanconi , Neoplasias , Humanos , Proteínas del Grupo de Complementación de la Anemia de Fanconi/genética , Heterocigoto , Anemia de Fanconi/genética , Anemia de Fanconi/patología , Genotipo , Neoplasias/epidemiología , Neoplasias/genética
4.
Arthroscopy ; 39(12): 2408-2419, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37270113

RESUMEN

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.


Asunto(s)
Médula Ósea , Losartán , Animales , Conejos , Losartán/farmacología , Losartán/uso terapéutico , Factor de Crecimiento Transformador beta1 , Colágeno Tipo I , Colágeno Tipo III , Tendones/cirugía , Fibrosis
5.
Mol Genet Metab ; 139(3): 107627, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37327713

RESUMEN

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.


Asunto(s)
Antineoplásicos , Hiperamonemia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Niño , Asparaginasa/efectos adversos , Fenilbutiratos/uso terapéutico , Hiperamonemia/inducido químicamente , Hiperamonemia/tratamiento farmacológico , Benzoato de Sodio/efectos adversos , Glutamina/efectos adversos , Amoníaco , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/inducido químicamente , Resultado del Tratamiento , Antineoplásicos/efectos adversos
6.
Haematologica ; 108(1): 69-82, 2023 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-35417938

RESUMEN

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.


Asunto(s)
Anemia de Fanconi , Leucemia , Neoplasias , Estados Unidos , Humanos , Anemia de Fanconi/genética , Anemia de Fanconi/terapia , National Cancer Institute (U.S.) , Fenotipo , Neoplasias/genética , Genotipo
7.
Blood ; 141(17): 2100-2113, 2023 04 27.
Artículo en Inglés | MEDLINE | ID: mdl-36542832

RESUMEN

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.


Asunto(s)
Anemia Aplásica , Enfermedades de la Médula Ósea , Pancitopenia , Humanos , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/genética , Enfermedades de la Médula Ósea/terapia , Diagnóstico Diferencial , Anemia Aplásica/diagnóstico , Anemia Aplásica/genética , Anemia Aplásica/terapia , Trastornos de Fallo de la Médula Ósea/diagnóstico , Pancitopenia/diagnóstico
8.
Arthroscopy ; 39(4): 922-930, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36343768

RESUMEN

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.


Asunto(s)
Laceraciones , Lesiones del Manguito de los Rotadores , Articulación del Hombro , Humanos , Lesiones del Manguito de los Rotadores/cirugía , Articulación del Hombro/cirugía , Manguito de los Rotadores/cirugía , Fenómenos Biomecánicos , Aloinjertos , Cadáver , Rango del Movimiento Articular
9.
Acta Orthop Traumatol Turc ; 57(6): 301-305, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38454210

RESUMEN

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.


Asunto(s)
Desastres , Procedimientos Ortopédicos , Ortopedia , Humanos
10.
JSES Int ; 6(4): 587-595, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35813142

RESUMEN

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.

11.
Arthrosc Sports Med Rehabil ; 4(3): e1051-e1057, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35747636

RESUMEN

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.

12.
J Orthop Trauma ; 36(11): e405-e411, 2022 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-35605145

RESUMEN

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.


Asunto(s)
Tibia , Fracturas de la Tibia , Cadáver , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Radiografía , Tibia/diagnóstico por imagen , Tibia/cirugía , Tomografía Computarizada por Rayos X/métodos
13.
Am J Med Genet C Semin Med Genet ; 190(1): 121-130, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35312150

RESUMEN

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.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Adulto , Cerebelo/anomalías , Cerebelo/diagnóstico por imagen , Niño , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Femenino , Humanos , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/genética , Imagen por Resonancia Magnética , Masculino , Hipotonía Muscular , Examen Físico , Retina/anomalías , Retina/diagnóstico por imagen
14.
Br J Haematol ; 197(4): 467-474, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35191533

RESUMEN

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.


Asunto(s)
Anemia de Fanconi , Neoplasias de Cabeza y Cuello , Trasplante de Células Madre Hematopoyéticas , Leucemia , Adulto , Trastornos de Fallo de la Médula Ósea , Niño , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Anemia de Fanconi/complicaciones , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Femenino , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello
15.
Am J Med Genet A ; 188(3): 847-857, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34951506

RESUMEN

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.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Cerebelo/anomalías , Cerebelo/diagnóstico por imagen , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Femenino , Genotipo , Humanos , Recién Nacido , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/genética , Masculino , Estudios Prospectivos , Retina/anomalías , Retina/diagnóstico por imagen
16.
Arthrosc Tech ; 9(11): e1785-e1789, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33294341

RESUMEN

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.

17.
Knee ; 27(6): 1931-1941, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33221691

RESUMEN

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.


Asunto(s)
Artropatías/cirugía , Osteotomía/métodos , Rótula/cirugía , Articulación Patelofemoral/cirugía , Tibia/cirugía , Adolescente , Adulto , Femenino , Humanos , Artropatías/diagnóstico , Masculino , Persona de Mediana Edad , Rótula/diagnóstico por imagen , Articulación Patelofemoral/diagnóstico por imagen , Periodo Posoperatorio , Radiografía , Recurrencia , Estudios Retrospectivos , Tibia/diagnóstico por imagen , Resultado del Tratamiento , Adulto Joven
18.
Am J Sports Med ; 48(13): 3365-3375, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32191494

RESUMEN

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.


Asunto(s)
Artroscopía , Lesiones del Manguito de los Rotadores , Articulación del Hombro , Humanos , Rango del Movimiento Articular , Manguito de los Rotadores/cirugía , Lesiones del Manguito de los Rotadores/cirugía , Articulación del Hombro/cirugía , Resultado del Tratamiento
20.
Arthroscopy ; 36(6): 1523-1532, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32057982

RESUMEN

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.


Asunto(s)
Lesiones del Manguito de los Rotadores/cirugía , Anclas para Sutura , Adulto , Fenómenos Biomecánicos , Cadáver , Femenino , Humanos , Masculino , Persona de Mediana Edad , Técnicas de Sutura
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