Acute promyelocytic leukemia with PML/RARA (bcr1, bcr2 and bcr3) transcripts in a pediatric patient.

Patients with acute promyelocytic leukemia (APL) exhibit the t(15;17)(q24.1;q21.2) translocation that produces the promyelocytic leukemia (PML)/retinoic acid receptor α (RARA) fusion gene. Different PML breakpoints yield three alternative molecular transcripts, bcr1, bcr2 and bcr3. The present study reports the simultaneous presence of three PML/RARA transcripts in a pediatric female patient diagnosed with APL, according to the clinical characteristics, immunophenotype and karyotype of the patient. The simultaneous presence of the PML/RARA transcripts were detected using reverse transcription-quantitative PCR (RT-qPCR). This was confirmed with HemaVision-28N Multiplex RT-qPCR, HemaVision-28Q qualitative RT-qPCR and the AmpliSeq RNA Myeloid Panel. To the best of our knowledge, the pediatric patient described in the present study is the first case found to exhibit all three PML/RARA transcripts (bcr1, bcr2 and bcr3). Additionally, a microarray analysis was performed to determine the expression profile, potential predictive biomarkers and the implications of this uncommon finding. According to the information obtained from molecular monitoring, the results reported in the present study were associated with a good patient prognosis. In addition, upregulated genes that are rare in acute myeloid leukemia were identified, and these genes may be promising diagnostic biomarkers for further study. For example, CCL-1 is present in leukemic stem cells, causing treatment failure and relapse, and α- and ß-defensins have been reported exclusively in chronic myeloid leukemia. However, the results of the present study confirmed that they may also be present in APL. Thus, these findings suggested a possible signaling pathway that involves the PML/RARA oncoprotein in APL.

Impact of the Mexican education system and age on basic knowledge about ischemic heart disease in the pre-COVID-19 era.

BACKGROUND AND OBJECTIVE: To assess general population's knowledge about ischemic heart disease (IHD) and its relationship to years of schooling in Mexico. METHOD: Analysis of surveys designed to measure knowledge about IHD applied in Mexico City. RESULTS: 530 surveys were analyzed. 51.7% were women. The median age was 43 years (IQR: 15-92) and the median of schooling was 18 years (IQR: 15-18). 64.5% of respondents scored less than 50% of correct answers. A slight increase in the knowledge level and years of study (p < 0.001) and age (p = 0.101) was observed, but with low correlation indexes (r = 0.215 and r = 0.071, respectively). CONCLUSIONS: Knowledge about IHD in general population is deficient and doesn't increase adequately neither with age nor academic studies. It is necessary to review our health education strategies.

ANTECEDENTES Y OBJETIVO: Evaluar los conocimientos sobre cardiopatía isquémica (CI) de la población general y relacionarlos con los años de escolaridad y la edad. MÉTODO: Análisis de encuestas diseñadas para medir conocimientos sobre CI aplicadas en Ciudad de México. RESULTADOS: Se analizaron 530 encuestas. El 51.7% fueron mujeres. La mediana de edad fue 43 años (RIC: 15 a 92) y la de años de estudio fue de 18 años (RIC: 15-18). El 64.5% de los encuestados obtuvo menos del 50% de aciertos. Se documentó un ligero incremento en el nivel de conocimiento con los años de estudio (p < 0.001) y con la edad (p = 0.101), pero con bajos índices de correlación (r = 0.215 y r = 0.071, respectivamente). CONCLUSIONES: Los conocimientos sobre CI en la población general son deficientes y no se incrementan adecuadamente con la edad ni con los años de estudios académicos. Es necesario revisar nuestras estrategias de educación en salud.

Giant Benign Mammary Phyllodes Tumor: Report of a Case and Review of the Literature.

Phyllodes tumor of the breast is an infrequently encountered fibroepithelial neoplasm, which accounts for 0.3-1% of all tumors. Few case reports have described the occurrence of giant phyllodes tumor. To our knowledge, about 20% of phyllodes tumors would be considered giant benign. Complete surgical excision is the standard of care for giant benign phyllodes tumors; axillary lymph node metastasis is rare, and dissection should be limited to patients with pathologic evidence of tumor in the lymph nodes. We report the case of a 40-year-old Mexican woman with giant mammary tumor who underwent a right total mastectomy. The pathology results showed a benign phyllodes tumor 4,857 g in weight and 40.2 × 36.3 × 15 cm in size. We do not suggest adjuvant radiation therapy for patients with benign phyllodes tumors that are widely excised. A review of the pertinent literature was performed.

The role of officer race and gender in police-civilian interactions in Chicago.

Diversification is a widely proposed policing reform, but its impact is difficult to assess. We used records of millions of daily patrol assignments, determined through fixed rules and preassigned rotations that mitigate self-selection, to compare the average behavior of officers of different demographic profiles working in comparable conditions. Relative to white officers, Black and Hispanic officers make far fewer stops and arrests, and they use force less often, especially against Black civilians. These effects are largest in majority-Black areas of Chicago and stem from reduced focus on enforcing low-level offenses, with greatest impact on Black civilians. Female officers also use less force than males, a result that holds within all racial groups. These results suggest that diversity reforms can improve police treatment of minority communities.

Antibacterial Activity of Hexadecynoic Acid Isomers toward Clinical Isolates of Multidrug-Resistant Staphylococcus aureus.

In the present study, the structural characteristics that impart antibacterial activity to C16 alkynoic fatty acids (aFA) were further investigated. The syntheses of hexadecynoic acids (HDA) containing triple bonds at C-3, C-6, C-8, C-9, C-10, and C-12 were carried out in four steps and with an overall yield of 34-78%. In addition, HDA analogs containing a sulfur atom at either C-4 or C-5 were also prepared in 69-77% overall yields, respectively. Results from this study revealed that the triple bond at C-2 is pivotal for the antibacterial activity displayed by 2-HDA, while the farther the position of the triple bond from the carbonyl group, the lower its bactericidal activity against gram-positive bacteria, including clinical isolates of methicillin-resistant Staphylococcus aureus (CIMRSA) strains. The potential of 2-HDA as an antibacterial agent was also assessed in five CIMRSA strains that were resistant to Ciprofloxacin (Cipro) demonstrating that 2-HDA was the most effective treatment in inhibiting their growth when compared with either Cipro alone or equimolar combinations of Cipro and 2-HDA. Moreover, it was proved that the inhibition of S. aureus DNA gyrase can be linked to the antibacterial activity displayed by 2-HDA. Finally, it was determined that the ability of HDA analogs to form micelles can be linked to their decreased activity against gram-positive bacteria, since critical micellar concentrations (CMC) between 50 and 300 µg/mL were obtained.

Intergluteal Cleft Eccrine Porocarcinoma with Metastasis to Inguinal Region and Lung: Case Report and Review of the Literature.

Eccrine porocarcinoma (EPC) is an infrequent cutaneous neoplasm, and was described in 1963 by Pinkus and Mehregan. It is a rare type of skin tumor (0.005-0.01% of all skin tumors). Less than 300 cases have been described in the entire world medical literature. To our knowledge, no case of intergluteal cleft EPC has been reported in the literature in English and Spanish to date, so this would be the first reported case of such pathology. Metastatic EPC is less frequent, since only <10% of metastatic type have been reported and the rest as localized disease. The primary treatment of choice is surgical wide local excision of the tumor with histological confirmation of tumor-free margins. Prognosis is difficult to determine because of the rarity of EPC and the variations in natural history. There are no data to support the use of adjuvant chemotherapy or radiotherapy, and there are currently no agreed criteria to define patients at high risk of relapse. We present a 67-year-old man with intergluteal cleft eccrine tumor by biopsy. Metastasis to left inguinal region and lung was reported by contrasted abdominal and chest computed tomography. He started chemotherapy based on etoposide, vincristine, carboplatin. A review of pertinent literature is provided.

Low Computational-Cost Footprint Deformities Diagnosis Sensor through Angles, Dimensions Analysis and Image Processing Techniques.

Manual measurements of foot anthropometry can lead to errors since this task involves the experience of the specialist who performs them, resulting in different subjective measures from the same footprint. Moreover, some of the diagnoses that are given to classify a footprint deformity are based on a qualitative interpretation by the physician; there is no quantitative interpretation of the footprint. The importance of providing a correct and accurate diagnosis lies in the need to ensure that an appropriate treatment is provided for the improvement of the patient without risking his or her health. Therefore, this article presents a smart sensor that integrates the capture of the footprint, a low computational-cost analysis of the image and the interpretation of the results through a quantitative evaluation. The smart sensor implemented required the use of a camera (Logitech C920) connected to a Raspberry Pi 3, where a graphical interface was made for the capture and processing of the image, and it was adapted to a podoscope conventionally used by specialists such as orthopedist, physiotherapists and podiatrists. The footprint diagnosis smart sensor (FPDSS) has proven to be robust to different types of deformity, precise, sensitive and correlated in 0.99 with the measurements from the digitalized image of the ink mat.

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk patients has a negative socio-economic impact. This review summarizes the genetic basis, phenotype characteristics, and the National Comprehensive Cancer Network's screening, testing, and surveillance guidelines for the leading hereditary cancer syndromes. The aim of this review is to promote a better understanding of cancer genetics and genetic testing in Hispanic patients.

Clinical Cancer Genetics Disparities among Latinos.

The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention. The following commentary discusses available genotype and clinical information on hereditary cancer in Latinos and highlights the limited access for cancer genetic services in Latin America including barriers to genetic testing and alternatives for providing better access to genetic services. In this review, we discuss the status of clinical genetic cancer services for both US Latinos and those Latinos living in Latin America.

Longitudinal Analysis of Cerebrospinal Fluid and Plasma HIV-1 Envelope Sequences Isolated From a Single Donor with HIV Asymptomatic Neurocognitive Impairment.

OBJECTIVE: Combined antiretroviral treatment (cART) has changed the clinical presentation of HIV-associated neurocognitive disorders (HAND) to that of the milder forms of the disease. Asymptomatic neurocognitive impairment (ANI) is now more prevalent and is associated with increased morbidity and mortality risk in HIV-1-infected people. HIV-1 envelope (env) genetic heterogeneity has been detected within the central nervous system (CNS) of individuals with ANI. Changes within env determine co-receptor use, cellular tropism, and neuropathogenesis. We hypothesize that compartmental changes are associated with HIV-1 env C2V4 during ANI and sought to analyze paired HIV-1 env sequences from plasma and cerebrospinal fluid (CSF) of a female subject undergoing long-term cART. METHODS: Paired plasma and CSF samples were collected at 12-month intervals and HIV-1 env C2V4 was cloned and sequenced. RESULTS: Phylogenetic analysis of paired samples consistently showed genetic variants unique to the CSF. Phenotypic prediction showed CCR5 (R5) variants for all CSF-derived sequences and showed minor X4 variants (or dual-tropic) in the plasma at later time points. Viral compartmentalization was evident throughout the study, suggesting that the occurrence of distinctive env strains may contribute to the neuropathogenesis of HAND. CONCLUSIONS: Our study provides new insights about the genetic characteristics within the C2V4 of HIV-1 env that persist after long-term cART and during the course of persistent ANI.

Ocular manifestations of acute graft versus host disease after allogeneic bone marrow transplant.

A 17-year-old-male with Sickle Cell Disease underwent allogenic bone marrow transplant. Two years after the transplant the patient developed violaceous lichenoid papules coalescing into plaques over the face and upper extremities complaining of decrease visual acuity, foreign body sensation, and eye pain. A slit lamp examination showed injected conjunctiva, superficial I punctate keratopathy and decreased baseline Schirmmer test. Dermatologic evaluation and biopsy demonstrated chronic graft versus host disease along with the diagnosis of secondary keratoconjunctivitis sicca.

A virtual pyrogram generator to resolve complex pyrosequencing results.

We report a freely available software program, Pyromaker, which generates simulated traces for pyrosequencing results based on user inputs. Simulated pyrograms can aid in the analysis of complex pyrosequencing results in which various hypothesized mutations can be tested, and the resultant pyrograms can be matched with the actual pyrogram. We validated the software using the actual pyrograms for common KRAS gene mutations as well as several mutations in the BRAF, GNAS, and p53 genes. We demonstrate that all 18 possible single-base mutations within codons 12 and 13 of KRAS generate unique pyrosequencing traces and highlight the distinctions between them. We further show that all reported codon 12 and 13 complex mutations produce unique pyrograms. However, some complex mutations are indistinguishable from single-base mutations. For complicated pyrograms, Pyromaker was used in two modes, one in which hypothesis-based simulated pyrograms were pattern-matched with the actual pyrograms. In a second strategy with only the pyrogram, Pyromaker was used to identify the underlying mutation by iteratively reconstructing the mutant pyrogram. Either strategy was able to successfully identify the complex mutations, which were confirmed by cloning and sequencing. Using two examples of KRAS codon 12 mutations (specifically GGT→TTT, G12F and GGT→GAG, G12E), we report which combinations of five approaches permit unambiguous mutation identification. The most efficient approach was found to be pyrosequencing with Pyromaker.