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MOTIVATION: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure. RESULTS: Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research. AVAILABILITY AND IMPLEMENTATION: phecodeX is available at https://github.com/PheWAS/phecodeX.
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Estudio de Asociación del Genoma Completo , Fenómica , Polimorfismo de Nucleótido Simple , FenotipoRESUMEN
OBJECTIVE: To describe the spectrum of disease and burden of care in infants with congenital micrognathia from a multicenter cohort hospitalized at tertiary care centers. STUDY DESIGN: The Children's Hospitals Neonatal Database was queried from 2010 through 2020 for infants diagnosed with micrognathia. Demographics, presence of genetic syndromes, and cleft status were summarized. Outcomes included death, length of hospitalization, neonatal surgery, and feeding and respiratory support at discharge. RESULTS: Analysis included 3,236 infants with congenital micrognathia. Cleft palate was identified in 1266 (39.1%). A genetic syndrome associated with micrognathia was diagnosed during the neonatal hospitalization in 256 (7.9%). Median (IQR) length of hospitalization was 35 (16, 63) days. Death during the hospitalization (n = 228, 6.8%) was associated with absence of cleft palate (4.4%, P < .001) and maternal Black race (11.6%, P < .001). During the neonatal hospitalization, 1289 (39.7%) underwent surgery to correct airway obstruction and 1059 (32.7%) underwent gastrostomy tube placement. At the time of discharge, 1035 (40.3%) were exclusively feeding orally. There was significant variability between centers related to length of stay and presence of a feeding tube at discharge (P < .001 for both). CONCLUSIONS: Infants hospitalized with congenital micrognathia have a significant burden of disease, commonly receive surgical intervention, and most often require tube feedings at hospital discharge. We identified disparities based on race and among centers. Development of evidence-based guidelines could improve neonatal care.
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Obstrucción de las Vías Aéreas , Fisura del Paladar , Micrognatismo , Lactante , Niño , Humanos , Recién Nacido , Micrognatismo/epidemiología , Micrognatismo/cirugía , Fisura del Paladar/epidemiología , Fisura del Paladar/cirugía , Obstrucción de las Vías Aéreas/cirugía , Unidades de Cuidados Intensivos , América del Norte , Estudios RetrospectivosRESUMEN
BACKGROUND: Poly (ADP-ribose) polymerase inhibitors (PARPi) play a pivotal role in ovarian cancer management. With medical cannabis emerging as a novel component of supportive care, this study investigated the impact of medical cannabis use on oncological outcomes in patients with ovarian cancer undergoing PARPi therapy. METHODS: The study included patients from a single institution database treated for ovarian cancer between January 2014 and January 2020 who received PARPi maintenance therapy in a first-line or recurrent disease setting after a confirmed response to platinum-based treatment. The study categorized patients as cannabis users and cannabis-naïve. Univariate and multivariate Cox regression analysis and the Kaplan-Meier method were used to assess the effects of medical cannabis use on the duration of PARPi therapy, progression-free survival, and overall survival. RESULTS: Among the eligible patients (n=93), most were cannabis-naïve (69%, n=64) while the rest used medical cannabis (31%, n=29). Medical cannabis use rates were comparable for patients receiving PARPi therapy post-primary treatment or for recurrence (42%, n=9, vs 27%, n=20; p=0.1). Both groups exhibited similar median duration for PARPi therapy (12.1 vs 9.5 months; p=0.89) and progression-free survival (20 vs 21 months; p=0.83). Kaplan-Meier analysis detected no differences in progression-free survival associated with cannabis use. Although cannabis users had an extended overall survival compared with the cannabis-naïve group (129.3 vs 99 months; p=0.03), cannabis use was insignificant for overall survival on multivariate analysis (p=0.10). Multivariate analysis showed stage IV at diagnosis (p=0.02) to be the sole factor associated with progression-free survival (p=0.02). CONCLUSION: Medical cannabis usage in patients receiving PARPi treatment showed no association with duration of PARPi therapy, progression-free survival, or overall survival.
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Marihuana Medicinal , Neoplasias Ováricas , Humanos , Femenino , Inhibidores de Poli(ADP-Ribosa) Polimerasas , Marihuana Medicinal/uso terapéutico , Proteína BRCA1 , Proteína BRCA2 , Neoplasias Ováricas/tratamiento farmacológicoRESUMEN
OBJECTIVE: The use of chemoradiation in patients with stage IVB cancer of the cervix was evaluated to determine if definitive treatment offers benefit. METHODS: A database of 546 patients with cancer of the cervix treated between January 2005 and May 2021 at a tertiary academic medical center was reviewed retrospectively to identify patients with stage IVB disease. Log rank test, regression analysis, and the Kaplan-Meier method were used to identify and compare variables and estimate progression free survival and overall survival. RESULTS: Thirty-three patients with stage IVB cervical cancer were identified. Median age was 53 years (range 28-78). Pathology subtypes were squamous cell (n=22, 67%), adenocarcinoma (n=8, 24%), and clear cell (n=3, 9%). Metastases were classified as lymphatic (n=14, 42%) or hematogenous (n=19, 58%). Following treatment to all sites with chemoradiotherapy and selected use of surgery (n=23), six patients (26%, lymphatic n=4, hematogenous n=2) remained disease free for a median duration of 4 years (range 3-17 years). Recurrences in the remaining patients were distant (n=13) or local (n=4). All patients in the chemotherapy group (n=10, 100%) progressed. Kaplan-Meier analysis showed that median progression free survival was longer for patients treated at all disease sites than for patients treated with chemotherapy alone (19 vs 11 months, p=0.01). However, this was not the case for overall survival (49 vs 33 months, p=0.15). Patients with metastases limited to lymph nodes also had longer median progression free survival (22 vs 11 months, p=0.04) but not overall survival (p=0.68). CONCLUSIONS: Patients with stage IVB cancer of the cervix may benefit from treatment to all sites of disease, if feasible and safe, as demonstrated by improved progression free survival.
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Adenocarcinoma , Neoplasias del Cuello Uterino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Neoplasias del Cuello Uterino/patología , Estudios Retrospectivos , Estadificación de Neoplasias , Adenocarcinoma/patología , Ganglios Linfáticos/patologíaRESUMEN
BACKGROUND: In utero exposure to human immunodeficiency virus (HIV) and antiretroviral (ART) is associated with adverse birth outcomes, which are often attributed to alterations in placental morphology. This study used structural equation models (SEMs) to examine the impact of HIV and ART exposure on fetal growth outcomes and whether these associations are mediated by placental morphology in urban-dwelling Black South African women. METHODS: This prospective cohort study included pregnant women living with HIV (WLWH, n = 122) and not living with HIV (WNLWH, n = 250) that underwent repeated ultrasonography during pregnancy, and at delivery, to determine fetal growth parameters in Soweto, South Africa. The size and the velocity of fetal growth measures (i.e., head and abdominal circumference, biparietal diameter, and femur length) were calculated using the Superimposition by Translation and Rotation. Placenta digital photographs taken at delivery were used to estimate morphometric parameters and trimmed placental weight was measured. All WLWH were receiving ART for the prevention of vertical transmission of HIV. RESULTS: A trend towards a lower placental weight and significantly shorter umbilical cord length was reported in WLWH compared to their counterparts. After sex stratification, umbilical cord length was significantly shorter in males born to WLWH than in male fetuses born to WNLWH (27.3 (21.6-32.8) vs. 31.4 (25.0-37.0) cm, p = 0.015). In contrast, female fetuses born to WLWH had lower placental weight, birth weight (2.9 (2.3-3.1) vs. 3.0 (2.7-3.2) kg), and head circumference (33 (32-34) vs. 34 (33-35) cm) than their counterparts (all p ≤ 0.05). The SEM models showed an inverse association between HIV and head circumference size and velocity in female fetuses. In contrast, HIV and ART exposure was positively associated with femur length growth (both size and velocity) and abdominal circumference velocity in male fetuses. None of these associations appeared to be mediated via placental morphology. CONCLUSION: Our findings suggest that HIV and ART exposure directly affects head circumference growth in females and abdominal circumference velocity in male fetuses; but may improve femur length growth in male fetuses only.
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Infecciones por VIH , VIH , Femenino , Embarazo , Masculino , Humanos , Estudios Prospectivos , Sudáfrica , Placenta/diagnóstico por imagen , Desarrollo Fetal , Parto , Infecciones por VIH/tratamiento farmacológico , Ultrasonografía PrenatalRESUMEN
PURPOSE: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. METHODS: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes. RESULTS: Diagnostic rates ranged from 11% in patients with prior negative genetic testing to 34.5% in naive patients. Incorporating SVs from genome sequencing added up to 13% of new diagnoses in previously unsolved cases. HiFi-GS yielded increased discovery rate with >4-fold more rare coding SVs compared with srGS. Variants and genes of unknown significance remain the most common finding (58% of nondiagnostic cases). CONCLUSION: Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data to accelerate gene validation and by providing HiFi variant (SNV/SV) resources from >1000 human alleles to facilitate implementation of new sequencing platforms for rare disease diagnoses.
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Genómica , Enfermedades Raras , Niño , Genoma , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Linaje , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Análisis de Secuencia de ADNRESUMEN
22q11.2 deletion syndrome (22q11.2 DS, MIM #188400) is the most common chromosomal microdeletion with an incidence of 1 in 4000 live births. 22q11.2 DS patients present with varying penetrance and a broad phenotypic spectrum including dysmorphic features, congenital heart defects, hypoplastic thymus and T-cell deficiency, and hypocalcemia. The typical deletion spans 3 Mb between 4 large blocks of repetitive DNA, known as low copy repeats (LCRs), on chromosome 22 (LCR22) A and D. This deletion is found in ~85% of 22q11.2 DS patients, while only 4-5% have central LCR22B-D (1.5 Mb) and LCR22C-D (0.7 Mb) deletions. We report on a prenatally diagnosed, inherited case of central LCR22B-D 22q11.2 DS, born to a 22-year-old female with multiple autoimmune disorders. These include Sjogren's-syndrome-related antigen A (SSA+) severe systemic lupus erythematosus (SLE) with cutaneous and discoid components and seronegative antiphospholipid syndrome. Amniocentesis was performed due to fetal growth restriction (FGR). FISH with TUPLE1 (HIRA) probe was normal; however, chromosomal microarray identified a ~737 kb heterozygous loss between LCR22B-D. Subsequently, the same deletion was identified in the mother, which included CRKL and 19 other genes but excluded HIRA and TBX1, the typical candidate genes for 22q11.2DS pathogenesis. This case explores how loss of CRKL may contribute to immune dysregulation, as seen in the multiple severe autoimmune phenotypes of the mother, and FGR. Our experience confirms the importance of thorough workup in individuals with reduced penetrance of 22q11.2 DS features or atypical clinical presentations.
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Proteínas Adaptadoras Transductoras de Señales/genética , Síndrome de DiGeorge/genética , Retardo del Crecimiento Fetal/genética , Lupus Eritematoso Sistémico/genética , Adulto , Anticuerpos Antinucleares/sangre , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Síndrome de DiGeorge/sangre , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/patología , Femenino , Retardo del Crecimiento Fetal/sangre , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/patología , Feto , Pruebas Genéticas , Haploinsuficiencia/genética , Humanos , Hibridación Fluorescente in Situ , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/patología , Madres , Penetrancia , Secuencias Repetitivas de Ácidos Nucleicos/genéticaRESUMEN
In 1983 under the leadership of Dr. Daria Haust, the Pediatric Pathology Club (PPC; forerunner of the Society for Pediatric Pathology [SPP]), promulgated bylaws that included recognition of the special expertise required in pediatric pathology. This standard followed formal discussion that began as early as 1970, suggesting that special certification should be pursued, and the idea was vetted by the PPC in 1980 following a special report by Dr. Benjamin Landing and a letter to PPC members. Under the leadership of Dr. William Donnelly in 1984, a relationship between the SPP and the American Board of Pathology (ABPath) began in order to receive recognition of pediatric pathology as a special discipline. As a result, a test committee chaired by Dr. Jerald Schenken began preparing question categories and examples for ABPath examination. These efforts culminated in the first pediatric pathology subspecialty examination, held in Atlanta, Georgia on November 20, 1990. With this article we wish to detail the history of ABPath pediatric pathology board certification from its beginnings to the current time.
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Patología/historia , Pediatría/historia , Consejos de Especialidades/historia , Aniversarios y Eventos Especiales , Competencia Clínica , Educación de Postgrado en Medicina/historia , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Patología/educación , Pediatría/educación , Sociedades Médicas/historiaRESUMEN
OBJECTIVE: A majority of studies evaluating the risk of vertical transmission and adverse outcomes in pregnancies with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are mostly based on third-trimester infections. There is limited data available on pregnancy sequelae of maternal infection in the first or second trimester. STUDY DESIGN: We present a patient with monochorionic-diamniotic twins that develops coronavirus disease 2019 infection at 15 weeks of gestation. The pregnancy is further complicated by stage II twin-twin transfusion syndrome. She undergoes laser ablation, which is complicated by development of a subchorionic hematoma. The patient then develops Escherichia coli bacteremia, resulting in septic shock and preterm labor followed by previable delivery at 21 weeks of gestation. Amniotic fluid and placenta were negative for SARS-CoV-2 by real-time polymerase chain reaction. CONCLUSION: This case of SARS-CoV-2 argues against transplacental transmission after a second-trimester infection but brings attention to the possible downstream complications that may arise following early infection. KEY POINTS: · Vertical transmission of SARS-CoV-2 is not evident after a second-trimester infection.. · Antepartum coronavirus disease 2019 may cause vascular placental changes and placental insufficiency.. · SARS-CoV-2 is associated with a maternal hypercoagulable state with adverse perinatal outcomes..
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COVID-19 , Infecciones por Escherichia coli , Transfusión Feto-Fetal , Placenta , Complicaciones Infecciosas del Embarazo , Segundo Trimestre del Embarazo , Choque Séptico , Adulto , COVID-19/complicaciones , COVID-19/diagnóstico , COVID-19/fisiopatología , Infecciones por Escherichia coli/complicaciones , Infecciones por Escherichia coli/diagnóstico , Femenino , Transfusión Feto-Fetal/diagnóstico , Transfusión Feto-Fetal/etiología , Humanos , Recién Nacido , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Placenta/diagnóstico por imagen , Placenta/fisiopatología , Embarazo , Complicaciones Infecciosas del Embarazo/fisiopatología , Complicaciones Infecciosas del Embarazo/virología , Resultado del Embarazo , Embarazo Gemelar , Nacimiento Prematuro/etiología , Nacimiento Prematuro/virología , SARS-CoV-2 , Choque Séptico/diagnóstico , Choque Séptico/etiología , Gemelos Monocigóticos , Ultrasonografía Prenatal/métodosRESUMEN
BACKGROUND: Obese patients have increased complications after total knee arthroplasty (TKA). A body mass index (BMI) cutoff of 40 is frequently used to determine eligibility for TKA. Patients with a BMI <40 and extremely large legs which may predispose them to complications are approved for surgery because they fall below this cutoff. Alternatively, patients with truncal obesity and a BMI >40 are accepted because they have thin legs. We sought to determine whether BMI or girth should be used to determine eligibility. METHODS: 453 patients who underwent TKA were included. A lower extremity girth (LEG) ratio was calculated dividing the width of the soft tissue envelope by bone width on lateral radiographs. Receiver operator curves were generated to predict 90-day complications. RESULTS: There was no difference in median LEG ratio between patients with or without a complication (P = .08). Receiver operator curves indicated that size of the soft tissue envelope had no utility in predicting complications. There was no correlation between LEG ratio and specific complications such as infection, malalignment, or wound complications. Using a LEG ratio threshold of 4.834, the sensitivity and specificity for predicting complications were 48% and 64%, respectively. The median BMI for patients with no complication was 32.3 and 35 for patients with a complication (P = .07). CONCLUSION: Complications are not necessarily associated with size of the soft tissue envelope in TKA.Decisions concerning TKA should not be made solely on the size of a patient's leg. LEVEL OF EVIDENCE: Level III (retrospective comparative study).
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Artroplastia de Reemplazo de Rodilla , Artroplastia de Reemplazo de Rodilla/efectos adversos , Índice de Masa Corporal , Humanos , Extremidad Inferior , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios RetrospectivosRESUMEN
The Ewing sarcoma family of tumors (ESFT) are high-grade small round blue cell malignancies traditionally presenting in children and adolescents. The most common site of primary disease is bone, though extraskeletal primary sites are well-recognized. We present 6 cases of primary ESFT of the kidney and 1 case of the adrenal gland. Patients were 11 to 18 years of age at diagnosis. Metastases at diagnosis were present in most cases (n=6). All patients underwent surgery, and most received radiation (n=5). Five patients relapsed after initial remission. Comprehensive review of the primary renal ESFT literature was used to analyze various factors, including age, sex, disease metrics, metastases at diagnoses, and overall survival in a total of 362 cases. Notably, while the general ESFT population has reported rates of metastasis at diagnosis of 20% to 25%, this rate in the renal ESFT population was 53% with a rate of 59% in adolescent and young-adult patients (11 to 24 y). Nodal disease at diagnosis was present in 24% of renal ESFT cases compared with 3.2% in patients with primary skeletal ESFT. While this malignant process may share histologic and molecular features with its bone and soft tissue counterparts, primary renal ESFT presentations seem to be more aggressive and have worse outcomes.
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Neoplasias Renales/patología , Sarcoma de Ewing/patología , Adolescente , Niño , Femenino , Humanos , Neoplasias Renales/genética , Neoplasias Renales/mortalidad , Neoplasias Renales/terapia , Masculino , Sarcoma de Ewing/genética , Sarcoma de Ewing/mortalidad , Sarcoma de Ewing/terapiaRESUMEN
PURPOSE: Both ß1- and ß2-adrenoceptor proteins were detected on the cell surface of pancreatic ductal adenocarcinoma. The current study evaluated the association between beta-blocker use and pancreatic cancer risk. METHODS: We conducted a nested case-control study in a large population representative database. Each pancreatic cancer case was matched with four controls based on age, sex, practice site, and duration of follow-up using incidence density sampling. Beta-blocker use was defined as any prescription prior to index date and was stratified into non-selective and selective ß1 -blockers. The odds ratios (ORs) and 95% confidence intervals (95% CIs) for pancreatic cancer risk associated with beta-blocker use was estimated using conditional logistic regression. RESULTS: The study included 4113 patients with pancreatic cancer and 16 072 matched controls. When compared to never users, there was no association between any beta-blocker use and pancreatic cancer risk (adjusted OR 1.06, 95% CI 0.97-1.16, P = .16). Analysis by receptor selectivity showed use of non-selective beta-blockers for more than 2 years was associated with a reduced pancreatic cancer risk (OR 0.75, 95% CI 0.57-1.00, P = .05). When compared to former users both users of selective ß1-blockers and non-selective beta-blockers had a reduced pancreatic cancer risk (OR 0.78, 95% CI 0.67-0.90, P = .001) and (OR 0.67, 95% CI 0.49-0.92, P = .01), respectively. CONCLUSION: Beta-blocker use was not associated with increased pancreatic cancer risk. However, long-term use of beta-blockers may be associated with decreased pancreatic cancer risk.
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Antagonistas Adrenérgicos beta/efectos adversos , Neoplasias Pancreáticas/epidemiología , Anciano , Estudios de Casos y Controles , Bases de Datos Factuales , Femenino , Humanos , Israel/epidemiología , Modelos Logísticos , Masculino , Neoplasias Pancreáticas/etiología , Factores de RiesgoRESUMEN
BACKGROUND: In patients requiring both total hip arthroplasty (THA) and lumbar spinal fusion (LSF), consideration of preoperative sagittal spinopelvic measurements can aid in the prediction of postfusion compensatory changes in pelvic tilt (PT) and inform adjustments to traditional THA cup anteversion. This study aims to identify relationships between spinopelvic measurements and post-THA hip instability and to determine if procedure order reveals a difference in hip dislocation rate. METHODS: Patients at a single practice site who received both THA and LSF between 2005 and 2015 (292: 158 = LSF prior to THA, 134 = THA prior to LSF) were retrospectively reviewed for incidents of THA instability. Those with complete radiograph series (89) had their sagittal (standing) spinopelvic profiles measured preoperatively, immediately postoperatively, and 3 months, 6 months, 1 year, 1.5 years, and 2 years postoperatively. Measured parameters included lumbar lordosis (LL), pelvic incidence (PI), PT, and sacral slope (SS). RESULTS: No significant differences in dislocation rates between operative order groups were elicited (7/73 LSF first, 4/62 THA first; Z = 0.664, P = .509). Compared to nondislocators, dislocators had lower LL (-10.9) and SS (-7.8), and higher PT (+4.3) and PI-LL (+7.3). Additional risk factors for dislocation included sacral fusion (relative risk [RR] = 3.0) and revision fusion (RR = 2.7) . Predictive power of the model generated through multiple regression to characterize individual profiles of post-LSF PT compensation based on perioperative measurements was most significant at 1 year (R2 = 0.565, F = 0.000456, P = .028) and 2 years (R2 = 0.741, F = 0.031, P = .001) postoperatively. CONCLUSION: In performing THA after LSF, it is theoretically ideal to proceed with THA at a postfusion interval of at least 1 year, beyond which further compensatory PT change is minimal. However, the order of surgical procedure revealed no statistical difference in hip instability rates. In cases characterized by large PI-LL mismatch (larger or less predictable compensation profiles) or large SS or LL loss (considerably atypical muscle recruitment), consideration of full functional anteversion range between sitting and standing positions to account for abnormalities not appreciated with standing radiographic assessment alone may be warranted.
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Artroplastia de Reemplazo de Cadera/efectos adversos , Luxación de la Cadera/epidemiología , Vértebras Lumbares/diagnóstico por imagen , Huesos Pélvicos/diagnóstico por imagen , Complicaciones Posoperatorias/epidemiología , Fusión Vertebral , Anciano , Femenino , Luxación de la Cadera/etiología , Humanos , Illinois/epidemiología , Vértebras Lumbares/cirugía , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Postura , Radiografía , Estudios Retrospectivos , Factores de Riesgo , Sacro/diagnóstico por imagenRESUMEN
The objective of this study was to determine which plane of hip motion (rotational or sagittal) is more predictive of lower extremity (LE) injury in elite soccer players. A total of 69 athletes (43 professional and 26 collegiate) were examined (mean age, 22.6 years). Bilateral hip internal rotation (IR), external rotation, extension, and flexion measurements were taken along with the modified Thomas test during preseason physicals. There were 42 LE injuries (injury rate 3.74/1000 athlete exposures). Mean IR was 25.2. and 29.9° for injured versus noninjured extremities, respectively (p = .009). There was a significant association between decreased IR (categorized as IR < 28°) and incidence of ipsilateral LE injury (p = .042). Extremities with IR < 28° were 2.81 times more likely to sustain a LE injury (95% CI, 1.15.6.84; p = .023). With a utilitarian focus, the current study has identified a measurement of decreased hip IR with potential for substantial clinical value in collegiate and professional soccer players. (Journal of Surgical Orthopaedic Advances 28(3):201-208, 2019).
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Extremidad Inferior , Fútbol , Humanos , Extremidad Inferior/lesiones , Estudios Prospectivos , Rango del Movimiento Articular , Rotación , Fútbol/lesiones , Adulto JovenRESUMEN
Nonimmune hydrops fetalis (NIHF) is a rare disorder with a high perinatal mortality of at least 50%. One cause of NIHF is generalized lymphatic dysplasia (GLD), a rare form of primary lymphedema of the extremities and systemic involvement including chylothoraces and pericardial effusions. An autosomal recessive form of GLD has been described, caused by variants in the PIEZO1 gene. It has been reported clinically to cause NIHF and childhood onset of facial and limb lymphedema, most of which were diagnosed postnatally. We present a case of a woman with recurrent pregnancies affected by NIHF because of novel compound heterozygous variants in the PIEZO1 gene diagnosed prenatally using exome sequencing (ES). Two variants in PIEZO1 (c.3206G>A and c.6208A>C) were identified that were inherited from the father and mother, and are predicted to cause a nonsense and missense change, respectively, in the PIEZO1 subunits. Ultrasound demonstrated severe bilateral pleural effusions, whole body edema and polyhydramnios. Histopathology revealed an increased number of lymphatic channels, many of which showed failure of luminal canalization. Sanger sequencing confirmed the same variants in a prior fetal demise. We provide phenotypic correlation with ultrasound and autopsy finding, review PIEZO1 variants as a cause of GLD and discuss the uses of prenatal ES to date.
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Exoma , Variación Genética , Hidropesía Fetal/diagnóstico , Hidropesía Fetal/genética , Canales Iónicos/genética , Adulto , Autopsia , Biopsia , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Embarazo , Ultrasonografía Prenatal , Secuenciación del ExomaRESUMEN
BACKGROUND: Current treatment options and outcomes for acute uncomplicated thoracic Type-B aortic dissection (TBAD) remain unclear between medical management (MED) and thoracic endovascular aortic repair (TEVAR). In this study we aim to compare both strategies in terms of all-cause mortality, aortic dilation, and aortic rupture. METHODS: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials were queried from January 1990 through March 2017. Only studies comparing TEVAR to MED for acute uncomplicated TBAD were included. Random-effects meta-analysis was used to pool outcomes across studies. Study outcomes included short (1 month), intermediate (1 year), and mid-term (2-5 year) all-cause mortality. Additional outcomes included aortic dilation and rupture at 1 year. RESULTS: A total of 1,960 patients (64.3 years; 75.8% male) were included from six studies (one prospective and five retrospective). No difference was observed in short-term (odd ratio [OR] 0.73 with 95% confidence interval [CI] 0.47 to 1.12, P = 0.15), intermediate (OR 0.99 with 95% CI 0.56 to 1.73, P = 0.96), or mid-term all-cause mortality (OR 1.12 with 95% CI 0.54 to 2.32, P = 0.75). No difference in aortic dilation with either modality was noted at 1-year (OR 1.11 with 95% CI 0.76 to 1.64, P = 0.59). TEVAR was associated with a significantly lower 1-year risk of aortic rupture (OR 2.49 with 95% CI 1.23 to 5.06, P = 0.01). CONCLUSION: There were no short, intermediate, or mid-term differences in mortality between TEVAR or MED in patients with acute uncomplicated TBAD. Although the dilation rate was similar between both groups, TEVAR was associated with lower likelihood of aortic rupture at 1 year.
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Aneurisma de la Aorta Torácica/terapia , Disección Aórtica/terapia , Implantación de Prótesis Vascular , Fármacos Cardiovasculares/uso terapéutico , Procedimientos Endovasculares , Enfermedad Aguda , Anciano , Disección Aórtica/diagnóstico por imagen , Disección Aórtica/mortalidad , Aneurisma de la Aorta Torácica/diagnóstico por imagen , Aneurisma de la Aorta Torácica/mortalidad , Implantación de Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular/mortalidad , Fármacos Cardiovasculares/efectos adversos , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVE: We describe FDG-PET/CT findings of postoperative fat necrosis in patients following abdominal surgery, and evaluate their changes in size and FDG uptake over time. METHODS: FDG-PET/CT scans from January 2007-January 2016 containing the term 'fat necrosis' were reviewed. Lesions meeting radiological criteria of fat necrosis in patients with prior abdominal surgery were included. RESULTS: Forty-four patients, 30 males, mean age 68.4 ± 11.0 years. Surgeries: laparotomy (n=37; 84.1 %), laparoscopy (n=3; 6.8 %), unknown (n=4; 9.1 %). CTs of all lesions included hyperdense well-defined rims surrounding a heterogeneous fatty core. Sites: peritoneum (n=34; 77 %), omental fat (n=19; 43 %), subcutaneous fat (n=8; 18 %), retroperitoneum (n=2; 5 %). Mean lesion long axis: 33.6±24.9 mm (range: 13.0-140.0). Mean SUVmax: 2.6±1.1 (range: 0.6-5.1). On serial CTs (n=34), lesions decreased in size (p=0.022). Serial FDG-PET/CT (n=24) showed no significant change in FDG-avidity (p=0.110). Mean SUVmax did not correlate with time from surgery (p=0.558) or lesion size (p=0.259). CONCLUSION: Postsurgical fat necrosis demonstrated characteristic CT features and may demonstrate increased FDG uptake. However, follow-up of subsequent imaging scans showed no increases in size or FDG-avidity. Awareness of this entity is important to avoid misinterpretation of findings as recurrent cancer. KEY POINTS: ⢠Postsurgical fat necrosis may mimic cancer in FDG-PET/CT. ⢠Follow-up of fat necrosis showed no increase in FDG intensity. ⢠CT follow-up showed a decrease in lesion size. ⢠FDG uptake did not correlate with time lapsed from surgery.
Asunto(s)
Abdomen/cirugía , Necrosis Grasa/diagnóstico por imagen , Complicaciones Posoperatorias/diagnóstico por imagen , Neoplasias Abdominales/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Necrosis Grasa/etiología , Femenino , Fluorodesoxiglucosa F18 , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Radiofármacos , Estudios RetrospectivosRESUMEN
Transcaval aortic access has been used for deployment of transcatheter aortic valves in patients in whom conventional arterial approaches are not feasible. This access can be vital in other situation when large bore access is needed. We described a case of 65-year-old man who had large thoracic descending aortic aneurysm with diffuse bilateral iliac disease precluding the arterial access required for the procedure. The patient underwent successful transcaval access with placement of 22-Fr balloon expandable sheath followed with successful deployments of 32 mm × 32 mm × 150 mm Valiant stent graft (Medtronic, Minneapolis, MN). The aorto-vena cava tract was closed successfully using 12 × 10 PDA occluder device with no residual flow at the end of the case, which was confirmed on repeated CT next day.
Asunto(s)
Angioplastia de Balón/métodos , Aneurisma de la Aorta Torácica/cirugía , Implantación de Prótesis Vascular/métodos , Cateterismo Venoso Central/métodos , Vena Cava Inferior , Anciano , Angioplastia de Balón/instrumentación , Aneurisma de la Aorta Torácica/diagnóstico por imagen , Aortografía/métodos , Prótesis Vascular , Implantación de Prótesis Vascular/instrumentación , Angiografía por Tomografía Computarizada , Humanos , Masculino , Flebografía/métodos , Diseño de Prótesis , Punciones , Stents , Resultado del Tratamiento , Vena Cava Inferior/diagnóstico por imagenRESUMEN
STUDY OBJECTIVE: To evaluate the algorithm of transvaginal ultrasound (TVU) and/or modified hysterosalpingogram (HSG) confirmation testing 3 months after Essure placement to determine if women can rely on the device for permanent birth control. DESIGN: Interim analysis of an ongoing 10-year, prospective, multicenter, nonrandomized, single-arm, international trial (Canadian Task Force classification II-2). SETTING: Twenty study centers in the United States (n = 12), Canada (n = 1), The Netherlands (n = 6), and Spain (n = 1). PATIENTS: Women undergoing the Essure procedure for permanent birth control. INTERVENTIONS: Based on the algorithm for confirmation testing, women with an uncomplicated Essure procedure underwent TVU as the confirmation test; modified HSG was used for women ineligible for TVU, when TVU findings were abnormal or inconclusive, or based on the physician's discretion. MEASUREMENTS AND MAIN RESULTS: Co-primary endpoints (intention-to-treat [ITT] population) were the reliance rate and the 1-year pregnancy rate. Safety evaluation was based on adverse events. Bilateral insert placement was attempted in 597 women (ITT population) and achieved in 582 of 597 (97.5%). A total of 547 women were told to rely on Essure for permanent birth control. Both co-primary endpoints met prespecified limits: based on Bayesian statistics, the reliance rate was 91.6% (547/597; 95% credible interval, 89.2%-93.6%) and the 1-year pregnancy rate .67% (95% credible interval, .16%-1.53%). Using the algorithm for confirmation testing, of 547 subjects told to rely on Essure, 470 (86%) underwent TVU alone, 30 (6%) had modified HSG alone, and 47 (9%) had TVU followed by modified HSG. Four women became pregnant after being told to rely on Essure. They all had confirmation testing with TVU alone, and each initially read incorrectly as optimal insert locations. In each case postpregnancy follow-up and root cause analysis revealed unsatisfactory insert locations, 2 of which were perforations. Most adverse events were mild and unrelated to Essure. CONCLUSION: The algorithm of TVU and/or modified HSG confirmation testing 3 months after Essure placement can determine that a woman can rely on the device for permanent birth control. The adverse events observed are consistent with the known safety profile of Essure. (clinicaltrials.gov: NCT01327105.).
Asunto(s)
Algoritmos , Endosonografía/métodos , Histerosalpingografía , Dispositivos Intrauterinos , Anticoncepción Reversible de Larga Duración , Vagina/diagnóstico por imagen , Adulto , Canadá , Trompas Uterinas/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Histerosalpingografía/métodos , Histeroscopía/métodos , Anticoncepción Reversible de Larga Duración/efectos adversos , Anticoncepción Reversible de Larga Duración/instrumentación , Anticoncepción Reversible de Larga Duración/métodos , Países Bajos , Embarazo , España , Estados Unidos , Útero/diagnóstico por imagenRESUMEN
BACKGROUND: Reports of implant fracture at the modular junction have been seen in modular neck designs, stem-sleeve modular femoral stems, and diaphyseal engaging bi-body modular stems. To date, however, there has never been a direct comparison between 2 different implant designs from the same modular family. The purpose of this study is to compare the rate of implant failure of 2 such stem-sleeve modular femoral stem designs, the S-ROM and Emperion, to further identify factors which increase the risk of this mode of failure. METHODS: A retrospective, single surgeon, review of our institutional database was performed to compare the 2 groups of patients. RESULTS: A total of 1168 total hip arthroplasty procedures were included in our analysis, 547 (47%) with Emperion and 621 (53%) with S-ROM. Eight (1.5%) fractures in 7 patients occurred in the Emperion group compared to 1 (0.2%) fracture in the S-ROM group (P = .015). CONCLUSION: The precise cause of the stem fractures in our study remains unknown and is likely multifactorial. Given the unexpectedly high rate of catastrophic implant failures in the form of stem fracture at the stem-sleeve junction, we recommend more judicious use of modularity in primary total hip arthroplasty.