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1.
Artículo en Inglés | MEDLINE | ID: mdl-38968696

RESUMEN

INTRODUCTION: Emergency department (ED) visits because of pediatric fractures are not only burdensome for patients and their families but also result in an increased healthcare expenditure. Almost half of all children experience at least one fracture by the age of 15. Many fractures occur in playgrounds, with monkey bars and other climbing apparatuses noted as frequent mechanisms of injury. Our purpose was to identify the pattern of injury and the population sustaining monkey bar-associated fractures. METHODS: We queried the National Electronic Injury Surveillance System database for all monkey bar-associated injuries in patients aged 0 to 18 years from January 1, 2009, to December 31, 2019. We described demographic data, patient disposition from the ED, fracture pattern, and injury setting using unweighted and weighted estimates. Weighted results that more closely reflect national estimates were calculated. RESULTS: During the study period, 30,920 (862,595 weighted) monkey bar-associated injuries presented to EDs; 16,410 (53.1%) (weighted injuries: 408,722 [47.4%]) were fracture injuries. The average age of kids sustaining fractures was 6.5 years, with most injuries (66.4%) occurring in kids between 6 and 12 years. A higher percentage of male patients presented to the ED with fractures compared with female patients (53% versus 47%). Upper extremity fractures were most common, 382,672 (94%) with forearm fractures constituting the majority (156,691 [38%]). Most children were treated and released (354,323 [87%]), with only 35,227 children (9%) being admitted for treatment. Places of recreation/sports were the most common setting of fractures (148,039 [36%]), followed by schools (159,784 [39%]). A notable association was observed between year and ethnicity and between month period and injury setting. CONCLUSION: Monkey bar-associated injuries are a major cause of upper extremity fractures in children, with most injuries occurring in recreational areas or schools. Young elementary school children are at the highest risk of injury. ED visits because of monkey bar-associated fractures have increased over the study period, and these injuries continue to be a major cause of fractures in children. Additional measures should be installed to decrease these preventable fractures among children, with schools as a potential starting point.

2.
J Hand Surg Glob Online ; 6(2): 164-168, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38903829

RESUMEN

Purpose: Currently, there is a paucity of prior investigations and studies examining applications for artificial intelligence (AI) in upper-extremity (UE) surgical education. The purpose of this investigation was to assess the performance of a novel AI tool (ChatGPT) on UE questions on the Orthopaedic In-Training Examination (OITE). We aimed to compare the performance of ChatGPT to the examination performance of hand surgery residents. Methods: We selected questions from the 2020-2022 OITEs that focused on both the hand and UE as well as the shoulder and elbow content domains. These questions were divided into two categories: those with text-only prompts (text-only questions) and those that included supplementary images or videos (media questions). Two authors (B.K.F. and G.S.M.) converted the accompanying media into text-based descriptions. Included questions were inputted into ChatGPT (version 3.5) to generate responses. Each OITE question was entered into ChatGPT three times: (1) open-ended response, which requested a free-text response; (2) multiple-choice responses without asking for justification; and (3) multiple-choice response with justification. We referred to the OITE scoring guide for each year in order to compare the percentage of correct AI responses to correct resident responses. Results: A total of 102 UE OITE questions were included; 59 were text-only questions, and 43 were media-based. ChatGPT correctly answered 46 (45%) of 102 questions using the Multiple Choice No Justification prompt requirement (42% for text-based and 44% for media questions). Compared to ChatGPT, postgraduate year 1 orthopaedic residents achieved an average score of 51% correct. Postgraduate year 5 residents answered 76% of the same questions correctly. Conclusions: ChatGPT answered fewer UE OITE questions correctly compared to hand surgery residents of all training levels. Clinical relevance: Further development of novel AI tools may be necessary if this technology is going to have a role in UE education.

3.
J Arthroplasty ; 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38925275

RESUMEN

BACKGROUND: As the volume of total joint arthroplasty in the US continues to grow, new challenges surrounding appropriate discharge surface. Arthroplasty literature has demonstrated discharge disposition to postacute care facilities carries major risks regarding the need for revision surgery, patient comorbidities, and financial burden. To quantify, categorize, and mitigate risks, a decision tool that uses preoperative patient variables has previously been published and validated using an urban patient population. The aim of our investigation was to validate the same predictive model using patients in a rural setting undergoing total knee arthroplasty (TKA) and total hip arthroplasty. METHODS: All TKA and THA procedures that were performed between January 2012 and September 2022 at our institution were collected. A total of 9,477 cases (39.6% TKA, 60.4% THA) were included for the validation analysis. There were 9 preoperative variables that were extracted in an automated fashion from the electronic medical record. Included patients were then run through the predictive model, generating a risk score representing that patient's differential risk of discharge to a skilled nursing facility versus home. Overall accuracy, sensitivity and specificity were calculated after obtaining risk scores. RESULTS: Score cutoff equally maximizing sensitivity and specificity was 0.23, and the proportion of correct classifications by the predictive tool in this study population was found to be 0.723, with an area under the curve of 0.788 - both higher than previously published accuracy levels. With the threshold of 0.23, sensitivity and specificity were found to be 0.720 and 0.723, respectively. CONCLUSIONS: The risk calculator showed very good accuracy, sensitivity, and specificity in predicting discharge location for rural patients undergoing TKA and THA, with accuracy even higher than in urban populations. The model provides an easy-to-use interface, with automation representing a viable tool in helping with shared decision-making regarding postoperative discharge plans.

4.
Arthroplast Today ; 27: 101352, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38690097

RESUMEN

Background: Unplanned calls, messages, and visits to the clinic can occur at a higher rate as newer technologies allow patients more accessibility and connectivity to clinicians. By reviewing postoperative patient phone calls and electronic portal messages, we compared the methods and frequency of communications between conventional and robotic joint arthroplasty cases. Methods: A retrospective review of total hip, total knee, and unicompartmental knee arthroplasty procedures by fellowship-trained adult reconstruction surgeons at our hospitals between 2017 and 2022 was performed. Any unplanned postoperative communication within 30 days of the postoperative period and unplanned emergency department visits were collected. Results: There were 12,300 robotic and manual consecutive primary total hip, total knee, and unicompartmental knee arthroplasty procedures performed on 10,908 patients over the study period. A total of 905 (40.4%) patients and 2012 (23.2%) patients sent an electronic text message (ETM) in the robotic and manual arthroplasty cohorts (P < .0001), respectively. Overall, 1942 (86.6%) patients in the robotic arthroplasty group and 6417 (74%) patients in the manual arthroplasty group had at least one phone call within the first month after their joint arthroplasty. Conclusions: Robotic arthroplasty patients place an increased demand on the orthopaedic surgery department in terms of unplanned patient contacts. Robotic arthroplasty patients had a significantly increased rate of unplanned postoperative ETMs and phone calls when compared to manual arthroplasty patients. An increased number of postoperative phone calls, but not ETMs, can also be indicative of an emergency department visit. These findings can be used in the perioperative setting to counsel and educate patients about expectations.

5.
Injury ; 2023 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-37068971

RESUMEN

INTRODUCTION: Hip fractures are an increasingly common occurrence among the aging population. With increased life expectancy and advancements in medicine, patients sustaining a hip fracture are at an increasing risk of sustaining a contralateral hip fracture. Efforts are being made to better understand the environment of these hip fractures so that secondary prevention clinics and guidelines can be made to help prevent recurrent osteoporotic hip fractures. The estimated incidence of a contralateral hip fracture varies from 2 to 10% and is reportedly associated with a higher incidence of complications. Previous studies evaluating contralateral hip fractures compared a single cohort of patients sustaining a second hip fracture with patients who sustained only one hip fracture. We aimed to investigate the overall complications and associated costs as it relates to a patients first hip fracture and contrast this to the same patient's contralateral, second hip fractures. METHODS: We performed a retrospective review of all patients in our health systems electronic database who were found to have surgically treated hip fractures between January 2004 and July 2019. Patients with surgically treated hip fractures (CPT Codes: 27235, 27236, 27245, 27244), who sustained a second contralateral hip fracture were included. Medical complications within 30 days of either procedure (such as pneumonia, UTI, altered mental status and others), length of stay, orthopedic complications (such as wound complications, infection, hardware failure, nonunion), type of implants, costs, comorbidities, and ASA Class as well as Mortality were reviewed. RESULTS: A total of 4,870 hip fractures were identified during the study period where 137 (2.8%) patients sustained a second hip fracture, and 47 (0.9%) of which were sustained within the first year after their index hip fracture. There was no statistical difference in length of stay (p = 0.68), medical (p>0.99) or orthopedic complications (p>0.99) between patients first and second hip fractures. There was an increased incidence of cognitive impairment with the second hip fracture (P = 0.0002). For patients that underwent operative treatment of a second hip fracture, the total cost of care was higher for the second surgery (mean difference 757. 38 USD) however the difference wasn't statistically significant (p = 0.31). The overall 1-year mortality rate was 14.9 percent. CONCLUSIONS: Our study demonstrates there is no statistical difference between the first and second surgery regarding length of stay, medical or orthopedic complications and cost.

6.
J Am Acad Orthop Surg ; 30(13): e911-e918, 2022 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-35472060

RESUMEN

INTRODUCTION: Fragility fractures are an enduring source of morbidity in the elderly with unfortunate frequency and rising costs. Although the predominant cause of fractures is generally understood to be falls, the exact stratification of the causes of fractures presenting to the emergency department has not yet been described in the literature. We sought out to stratify the primary products associated with fractures in the elderly, further describing the anatomic location of the fracture and setting of injury. METHODS: We queried the National Electronic Injury Surveillance System database for all fractures in patients older than 65 years from January 1, 2000, to December 31, 2019. We analyzed demographic data, patient disposition, anatomic fracture location, and injury setting for the top 20 causes of fractures. Trends, proportions and distributions were analyzed using descriptive statistics. RESULTS: A total of 901,418 visits to the Emergency Department were reviewed. Of these, 216,657 (24%) were found to have fractures. The top 20 causes for fractures accounted for a total of 173,557 (19%) fractures. The average age in our population was 80.1 years (SD 8.7). Women constituted most of the patients (127,753 [74%]). Flooring (58,347 [33.6%]) was the most common product associated with the cause of fractures, with stairs/steps (29,804 [17.2%]) and bed/bed frames (19,004 [10.9%]) being the second and third most common, respectively. Lower extremity fractures (97,195 [56%]) were more common than upper extremity fractures (63,899 [37%]). The lower trunk (pelvis, femoral neck, and lower spine) was the most common anatomic location of fractures reported (64,132 [37.0%]). Most fractures occurred either at home (113,158 [65.2%]) or at a public setting (31,162 [18.0%]). CONCLUSIONS: Most products associated with fractures among mature adults were related to flooring, stairs, or bedding. This study offers a detailed understanding on the common products associated with fractures in mature adults and aids in discussing preventive measures for lowering fracture risk with patients, communities, and healthcare systems.


Asunto(s)
Fracturas Óseas , Accidentes , Adulto , Anciano , Anciano de 80 o más Años , Bases de Datos Factuales , Servicio de Urgencia en Hospital , Estudios Epidemiológicos , Femenino , Fracturas Óseas/epidemiología , Fracturas Óseas/etiología , Fracturas Óseas/prevención & control , Humanos
7.
Orthopedics ; 45(3): e162-e167, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35112960

RESUMEN

Acute, major articular bone loss associated with an open fracture is an uncommon injury. These injuries typically occur after high-energy trauma and are challenging to treat. Various approaches to treatment include allografts, prosthetic composite structures, custom implants, and total joint arthroplasty. These treatment options provide a wide array of variability in outcomes, costs, and challenges, especially in young and active patients. Two patients presented to our institution with open elbow injuries that included structural bone loss of the lateral column including the entire capitellar articular surface and a portion of the lateral trochlea. With the limited portions of bone available, the surgical principles for distal humerus fracture of articular repair followed by medial and lateral column restoration were followed. Each patient was treated with repair of the residual remnant of the articular surface. Then, repair of the columns of the distal humerus was performed by using a combination of internal fixation and hinged external fixation. In both cases, a plate was inserted to repair the medial column and a hinged external fixation was applied laterally to protect the lateral column. Immediate motion was allowed and progressed within each patient's tolerance. The lateral, hinged external fixator was removed at 8 weeks after injury and converted to a lateral column plate fixed distally into the lateral portion of the residual trochlea. At follow-up, both patients had radiographic evidence of reconstitution of the lateral column of the distal humerus and were able to return to heavy manual labor. [Orthopedics. 2022;45(3):e162-e167.].


Asunto(s)
Lesiones de Codo , Articulación del Codo , Fracturas del Húmero , Placas Óseas , Articulación del Codo/diagnóstico por imagen , Articulación del Codo/cirugía , Fijación Interna de Fracturas , Humanos , Fracturas del Húmero/diagnóstico por imagen , Fracturas del Húmero/cirugía , Húmero/diagnóstico por imagen , Húmero/cirugía , Rango del Movimiento Articular , Estudios Retrospectivos , Resultado del Tratamiento
8.
Ann Surg Oncol ; 28(2): 606-616, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32638164

RESUMEN

INTRODUCTION: Colon cancer is the third leading cause of cancer-related deaths. Although there have been numerous advancements in treatment options, electing to undergo surgery is a difficult decision, and some patients may be hesitant to undergo surgery. We sought to understand the risk factors associated with refusal of surgery and predictors of mortality in patients with colon cancer. METHODS: We retrospectively reviewed the Surveillance, Epidemiology, and End Results database for patients diagnosed with colon cancer from 1995 to 2015. We stratified patients according to whether they underwent surgery or refused recommended surgery. We analyzed numerous demographic, surgical, and oncologic variables and performed univariate analysis to assess predictors for refusal of surgery as well as survival and mortality risk in those refusing surgery. RESULTS: Our analysis included 288,322 patients with primary colon cancer where 284,591 (98.7%) underwent cancer-direct surgery and 3731 (1.3%) refused recommended surgery. Those refusing cancer directed surgery were more likely to be > 70 years old, non-Hispanic black patients, and have distant staged cancer (all p < 0.001). In those refusing surgery, risks for mortality included older age, female gender, widowhood, higher grade or distant-staged cancer, and a positive CEA. CONCLUSIONS: Disparities in care related to patient race, gender, and insurance status were related to patients who refused surgical interventions. This study helps to identify patients who are more likely to refuse surgery and may assist in navigating conversations with patients who are contemplating treatment options.


Asunto(s)
Neoplasias del Colon , Negro o Afroamericano , Anciano , Neoplasias del Colon/cirugía , Femenino , Humanos , Masculino , Estudios Retrospectivos , Factores de Riesgo , Negativa del Paciente al Tratamiento
10.
Case Rep Oncol Med ; 2020: 1989452, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32181035

RESUMEN

Primary breast neoplasms are rare in adolescent females, most of which are benign. Phyllodes tumors constitute a remarkably small subset of breast neoplasms (0.3-0.9%) with malignant phyllodes tumors being even more uncommon. Malignant phyllodes tumors tend to progress rapidly though only 1.5% metastasize. They are also associated with a higher rate of recurrence than their benign counterparts, underlying the importance of adequate surgical margins. It is therefore imperative to be able to identify these tumors early allowing for prompt resection and close follow-up. Here, we present the rare case of a 17-year-old female presenting with a rapidly enlarging breast mass, which was ultimately found to be a malignant phyllodes tumor. We further performed a review of the literature to highlight only 22 other cases reported in adolescent females.

12.
Head Neck Pathol ; 14(4): 1129-1133, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31997133

RESUMEN

Double-hit lymphoma (DHL) is a unique subtype of non-Hodgkin lymphoma characterized by atleast two rearrangements involving MYC, BLC2, and/or BCL6. These lymphomas are uncommon and aggressive, responding poorly to typical chemotherapy regimens. Lymphomas rarely arise from the oral cavity or tonsils, and those presenting as a neck mass are predominantly diffuse large B-cell lymphoma. To date, primary DHL of the tonsils has yet to be described in the literature. Here, we report a case of a 44 year-old male patient with well-controlled human immunodeficiency virus (HIV) who presented with a sore throat. He subsequently developed acute respiratory compromise due to a rapidly enlarging tonsillar mass. Pathologic and genetic analysis confirmed the presence of BCL6 and MYC rearrangements suggestive of DHL of the tonsils. In a young patient with HIV and a neck mass, it is essential that lymphoma remains on the list of differential diagnoses as prompt diagnosis and treatment may prevent complications from its rapid expansion.


Asunto(s)
Infecciones por VIH/complicaciones , Linfoma no Hodgkin/patología , Neoplasias Tonsilares/patología , Adulto , Reordenamiento Génico , Humanos , Linfoma no Hodgkin/genética , Linfoma no Hodgkin/virología , Masculino , Proteínas Proto-Oncogénicas c-bcl-6/genética , Proteínas Proto-Oncogénicas c-myc/genética , Neoplasias Tonsilares/genética , Neoplasias Tonsilares/virología
13.
Case Rep Orthop ; 2019: 7571486, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31093399

RESUMEN

We present a case of the giant-cell tumor of bone in the scaphoid of a 17-year-old female. Imaging revealed an expansile lytic lesion of her scaphoid, and the diagnosis was confirmed with open biopsy. She was treated with curettage and iliac crest bone graft, in an effort to spare reconstruction of her wrist. After one year, she developed increasing tightness and pain. Local recurrence was apparent on radiographs, and CT revealed increased lucency with bony destruction in the area of prior excision. She was successfully treated, without recurrence to date, with complete scaphoid excision and a four-corner wrist fusion. Local recurrence of the giant-cell tumor of bone is high, especially in carpal bones. When treating patients with advanced lesions, more aggressive initial options should be considered.

14.
Radiol Case Rep ; 14(5): 555-560, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30847013

RESUMEN

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms, representing approximately 1%-2% of all primary gastrointestinal malignancies. Incidental GISTs are often less than 1 cm when discovered and have been reported predominantly in obese patients undergoing surgery for other medical indications. We present the rare case of a large incidental GIST in a nonobese patient with acutely symptomatic nephrolithiasis. Large GISTs may be treated with neoadjuvant imatinib mesylate to reduce tumor size prior to surgery, though some tumors may experience little change in size despite effective treatment. Treatment response for GISTs can be monitored via imaging studies, such as computed tomography or magnetic resonance imaging, but computed tomography is generally preferred over magnetic resonance imaging.

15.
Ear Nose Throat J ; 98(3): 165-168, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30922105

RESUMEN

Primary giant cell tumor of soft tissue (GCT-ST) is a rare entity that is considered the soft tissue equivalent of giant cell tumor of bone. It most commonly arises in soft tissues of the trunk and extremities, with occurrence in the head and neck being extremely rare. We report a case of GCT-ST of the carotid body, the first report of a tumor of this kind arising from this site in the neck. Giant cell tumor of soft tissue is generally considered a benign tumor with low malignant potential; thus, surgical excision is usually curative. However, due to the location and invasive nature of this patient's tumor, complete excision was not possible. We discuss the implication of this for long-term management of this patient, as well as similarities and differences in clinical presentation, histology, and biological behavior between this case and previously reported cases of GCT-ST.


Asunto(s)
Tumor del Cuerpo Carotídeo , Tumores de Células Gigantes , Neoplasias de Cabeza y Cuello , Disección del Cuello/métodos , Neoplasias de los Tejidos Blandos , Adulto , Tumor del Cuerpo Carotídeo/diagnóstico por imagen , Tumor del Cuerpo Carotídeo/patología , Tumor del Cuerpo Carotídeo/cirugía , Femenino , Tumores de Células Gigantes/diagnóstico por imagen , Tumores de Células Gigantes/patología , Tumores de Células Gigantes/cirugía , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Imagen por Resonancia Magnética/métodos , Invasividad Neoplásica , Estadificación de Neoplasias , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/cirugía , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento
17.
Am J Hum Genet ; 101(5): 789-802, 2017 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-29100090

RESUMEN

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. To identify genes associated with RHD, we performed an exome-wide association study with 195 unresolved case subjects and 6,905 control subjects. The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish. The significance of the association, which was p = 2.0 × 10-5 for novel LOF, increased to p = 4.1 × 10-6 for LOF and deleterious missense variants combined, and augmented further after accounting for segregation and de novo inheritance of rare variants (joint p = 2.3 × 10-7). Finally, CRISPR/Cas9 disruption or knockdown of greb1l in zebrafish caused specific pronephric defects, which were rescued by wild-type human GREB1L mRNA, but not mRNA containing alleles identified in case subjects. Together, our study provides insight into the genetic landscape of kidney malformations in humans, presents multiple candidates, and identifies SLIT3 and GREB1L as genes implicated in the pathogenesis of RHD.


Asunto(s)
Anomalías Congénitas/genética , Exoma/genética , Enfermedades Renales/congénito , Riñón/anomalías , Mutación/genética , Proteínas de Neoplasias/genética , Alelos , Animales , Estudios de Casos y Controles , Repeticiones Palindrómicas Cortas Agrupadas y Regularmente Espaciadas/genética , Femenino , Heterogeneidad Genética , Estudio de Asociación del Genoma Completo/métodos , Genotipo , Herencia/genética , Homocigoto , Humanos , Enfermedades Renales/genética , Masculino , Proteínas de la Membrana/genética , Ratones , Fenotipo , ARN Largo no Codificante/genética , Sistema Urinario/anomalías , Anomalías Urogenitales/genética , Pez Cebra
18.
N Engl J Med ; 376(8): 742-754, 2017 02 23.
Artículo en Inglés | MEDLINE | ID: mdl-28121514

RESUMEN

BACKGROUND: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. METHODS: We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice. RESULTS: We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10-14). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. CONCLUSIONS: We identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.).


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Deleción Cromosómica , Síndrome de DiGeorge/genética , Haploinsuficiencia , Riñón/anomalías , Proteínas Nucleares/genética , Sistema Urinario/anomalías , Adolescente , Animales , Niño , Cromosomas Humanos Par 22 , Exoma , Femenino , Heterocigoto , Humanos , Lactante , Recién Nacido , Masculino , Ratones , Modelos Animales , Análisis de Secuencia de ADN , Adulto Joven , Pez Cebra
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