Publications by authors named "Pichardo J"

Treatment plan quality is a crucial component for a successful outcome of radiation therapy treatments. As the complexity of radiation therapy planning and delivery techniques increases, the role of the medical physicist in assessing treatment plan quality becomes more critical. Integrating plan quality review throughout the treatment planning process allows improvements without delaying treatment or rushing to produce changes at the last minute.

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Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population.

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Currently, there are no existing measures to screen for or diagnose Social (Pragmatic) Communication Disorder (SPCD). We conducted an exploratory factor analysis (EFA) of the Social Communication Disorder Screener (SCDS), a 14-item, parent-report measure based on the DSM-5 diagnostic criteria for SPCD. This EFA examined the internal consistency and factor structure of the SCDS for a sample of 500 parents of children, ages 5-18 years, representative of the U.

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Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (, , , , and ) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects).

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Mechanical small-bowel obstruction can occur due to various reasons, including the impaction of a gallstone in the ileum after it has passed through a cholecystoenteric fistula. Gallstone ileus is an infrequent yet significant cause of this condition. This case report documents an instance of gallstone ileus, which accounts for less than 1% of patients with mechanical small bowel obstruction.

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The Hippo signaling pathway acts as a brake on regeneration in many tissues. This cascade of kinases culminates in the phosphorylation of the transcriptional cofactors Yap and Taz, whose concentration in the nucleus consequently remains low. Various types of cellular signals can reduce phosphorylation, however, resulting in the accumulation of Yap and Taz in the nucleus and subsequently in mitosis.

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Lumbar radiculopathy is a clinical condition defined by symptoms of pain, weakness, numbness, or tingling due to lumbar nerve root compression in levels L1-L4. Typically, it is characterized by a narrowing near the nerve root possibly caused by stenosis, bone osteophytes, disc herniation, and similar conditions. Reports of lumbar radiculopathy brought about by the presence of a radicular schwannoma are exceedingly rare.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that causes muscle weakness, disability, and eventually, death. Respiratory failure is the leading cause of death in ALS. It is common in the advanced stages of the disease.

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Spinal muscular atrophy (SMA) is a rare, inherited autosomal recessive disease. Histopathological shreds of evidence related to the condition have suggested degenerative changes at the level of the spinal cord and brain stem. Deletions or mutations in the survival motor neuron 1 (SMN1) gene are the underlying cause of this disease.

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Congenital portosystemic shunts can be divided into two types: intrahepatic shunts in which there is an abnormal connection between the branches of the portal vein and either the inferior vena cava or the hepatic veins and less commonly the extrahepatic type in which the portal system is connected to one of the branches of the mesenteric veins. Here we describe a 73-year-old woman who was admitted to the hospital with clinical evidence of encephalopathy and was found to have hyperammonemia. Abdominal computed tomography angiography was performed and revealed a dilated portal vein measuring up to 1.

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TAFRO syndrome, a clinical subtype of idiopathic multicentric Castleman disease (iMCD), consists of a constellation of symptoms/signs including thrombocytopenia, anasarca, fever, reticulin fibrosis/renal dysfunction, and organomegaly. The etiology of iMCD-TAFRO and the basis for cytokine hypersecretion commonly seen in iMCD-TAFRO patients has not been elucidated. Here, we identified a somatic MEK2 mutation and a germline RUNX1 mutation in two patients with iMCD-TAFRO, respectively.

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The genetic aberrations that drive mixed phenotype acute leukemia (MPAL) remain largely unknown, with the exception of a small subset of MPALs harboring and translocations. We performed clinicopathologic and genetic evaluation of 52 presumptive MPAL cases at Memorial Sloan Kettering Cancer Center. Only 29 out of 52 (56%) cases were confirmed to be bona fide MPAL according to the 2016 World Heath Organization classification.

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There are multiple prognostic indicators for diffuse large B-cell lymphoma (DLBCL) including the international prognostic index (IPI), and gene expression profiling (GEP) to classify the disease into germinal center B-cell and activated B-cell subtypes, the latter harboring inferior prognosis. More recently, tumor-associated macrophages (TAM) and lymphocyte-to-monocyte ratio (LMR) were found to have prognostic implications in DLBCL. However, consensus is yet to be reached in terms of the significance of each.

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We sought to define the genomic landscape of diffuse large B-cell lymphoma (DLBCL) by using formalin-fixed paraffin-embedded (FFPE) biopsy specimens. We used targeted sequencing of genes altered in hematologic malignancies, including DNA coding sequence for 405 genes, noncoding sequence for 31 genes, and RNA coding sequence for 265 genes (FoundationOne-Heme). Short variants, rearrangements, and copy number alterations were determined.

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CD99(MIC2) is a widely expressed cell surface glycoprotein and functions as a tumor suppressor involved in downregulation of SRC family of tyrosine kinase. CD99 expression is tightly regulated through B-cell development. The principal aims of this study were to investigate the clinical utility of CD99 expression (i) in distinguishing normal plasma cells from primary plasma cell neoplasms; (ii) in detection of minimal residual disease in primary plasma cell neoplasms; and (iii) in distinguishing plasma cell component of B-cell lymphomas from primary plasma cell neoplasms.

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Erdheim-Chester disease is a rare, non-Langerhans cell histiocytosis histologically characterized by multi-systemic proliferation of mature histiocytes in a background of inflammatory stroma. The disease can involve virtually any organ system; most commonly the bones, skin, retroperitoneum, heart, orbit, lung, and brain are affected. Although a histiocytic proliferation is the histological hallmark of the disease, a wide range of morphological appearances have been described as part of case studies or small series.

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PTC725 is a small molecule NS4B-targeting inhibitor of hepatitis C virus (HCV) genotype (gt) 1 RNA replication that lacks activity against HCV gt2. We analyzed the Los Alamos HCV sequence database to predict susceptible/resistant HCV gt's according to the prevalence of known resistance-conferring amino acids in the NS4B protein. Our analysis predicted that HCV gt3 would be highly susceptible to the activity of PTC725.

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A novel series of 2-(4-sulfonamidophenyl)-indole 3-carboxamides was identified and optimized for activity against the HCV genotype 1b replicon resulting in compounds with potent and selective activity. Further evaluation of this series demonstrated potent activity across HCV genotypes 1a, 2a and 3a. Compound 4z had reduced activity against HCV genotype 1b replicons containing single mutations in the NS4B coding sequence (F98C and V105M) indicating that NS4B is the target.

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Unlabelled: The current gold standard for measuring marrow cellularity is the bone marrow (BM) biopsy of the iliac crest. This measure is not predictive of total marrow cellularity, because the biopsy volume is typically small and fat fraction varies across the skeleton. MRI and localized MR spectroscopy have been demonstrated as noninvasive means for measuring BM cellularity in patients.

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Photo-/thermoresponsive surfaces that consist of thin layers of crosslinked poly(N-isopropyl acrylamide) functionalized with photochromic spirobenzopyran grafted from the cyclic olefin copolymer substrates are reported. These films act as intelligent hybrid films whose wettability can be reversibly manipulated by simple incandescent light irradiation or temperature changes. Such reversible wettability was augmented by the introduction of surface microstructures, and even further enhanced by the incorporation of nanorods with the static contact angle change being 5 degrees to 123.

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