Fernando Lima

Morphological and Morphometric Study of the Mental Foramen on the M-CP-18 Jiachenjiang Point

El objetivo de este trabajo fue estudiar la morfologia y morfometria del foramen mentoniano (FM), asi como evaluar su configuracion morfologica; tomar las medidas de su localization usando como parametro la distancia del foramen hacia el borde inferior de la mandibula y el reborde alveolar. 80 mandibulas secas se analizaron mediante la prueba de Chi-cuadrado y prueba t, con un 5% de significancia. Su distancia media, en el lado derecho, hasta el borde inferior de la mandibula (BIM) fue de 12,96 (± 1,57) mm y del reborde alveolar (RA) fue de 12,82 (± 3,4) mm. En el lado izquierdo se encuentro una distancia del BIM de 12,96 (± 1,32) mm y del RA de 12,82 (± 3,22) mm. El mayor diametro horizontal encontrado fue de 3,32 (± 0,91) mm a la derecha y 3,25 (± 0,86) mm a la izquierda, mientras que el mayor diametro vertical fue de 2,38 (± 0,63) mm a la derecha y de 2,39 (± 0,58) mm en el lado izquierdo. Se encuentra principalmente en forma oval en el lado derecho, de los cuales 98,3% presenta un diametro mayor horizontal (tipo I). En el lado izquierdo, todos los foramenes ovales fueron clasificados como de tipo I. 76 (95%) aparecieron solamente en ambos lados. En cuanto a la localization en relacion con la denticion mandibular, fue localizado en la misma proporcion estadistica entre el 1er y 2d° premolar y por encima del 2a premolar en el 45,17% de las mandibulas en el lado derecho. En el lado izquierdo se encuentran principalmente entre los lros y 2ros premolares en el 48,48% de las mandibulas. El estudio del FM, es de vital importancia para la practica de la acupuntura, asi como para los modernos procedimientos quirurgicos, como la anestesia, que requieren un estudio detallado y preciso de la morfologia y morfometria de la zona.

A Morphological and Biometric Study of the Infraorbital Foramen (E2 - Sibai Point) in Adult Skulls

El objetivo de este trabajo fue estudiar la morfologia y biometria del foramen infraorbitario (FIO), las variaciones en su forma, tamano y numero y ademas, determino su ubicacion.Se utilizaron 60 craneos aplicandose las prueba de Chi-cuadrado y t student con una significancia del 5%.En el lado derecho, la distancia del FIO al margen inferior de la orbita fue de 6,49 (± 1,68) mm, 39,65 mm (± 3) al margen superior mm, 17,7 mm (± 2,97) al margen medial y 20,46 (± 2,9) y al margen lateral de la orbita, respectivamente. La distancia de apertura fue 13,67 (± 2,17) mm.En el lado izquierdo, la distancia del FIO al margen inferior de la orbita fue 6,52 (± 1,82) mm; al margen superior fue 39,9 (± 2,62) mm y a los margenes lateral y medial fue 17,93 (± 2,58) mmy 21,12 (± 3) mm, respectivamente. La distancia a la abertura piriforme fue 14,26 (± 1,83) mm. Su forma era predominantemente ovalada, en 39 (65%) de los craneos. Foramenes accesorios estaban presentes en 11 muestras en el lado derechoy en 15 muestras en el lado izquierdo.El FIO estaba localizado mas frecuentemente lateral al plano sagital que pasa por el centro del foramen supraorbital. De estos casos, en 38 craneos (63,3%) en el lado derecho y en 45 craneos (75%) en el lado izquierdo.Los FIO estaban en el punto medio de la sutura cigomatica-maxilar en 41 craneos (68,3%) en el lado derecho y en 42 craneos (70%) en el lado izquierdo. Los FIO estaban mas frecuentemente localizados en relacion al primer y segundo premolares, en 22 craneos (36,7%) en el lado derecho y en 17 craneos (28,3%) en el lado izquierdo.

DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms

The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8-oxoguanine DNA glycosylase 1, poly (ADP-ribose) polymerase (PARP) 1, PARP4 and X-ray repair cross-complementing 1 (XRCC1)] in a case-control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN-MPNs when considered as a whole. However, stratification for essential thrombocythaemia revealed i) borderline effect/tendency to increased risk when carrying at least one variant allele for XRCC1_399 single-nucleotide polymorphism (SNP); ii) decreased risk for Janus kinase 2-positive patients carrying at least one variant allele for XRCC1_399 SNP; and iii) decreased risk in females carrying at least one variant allele for MUTYH SNP. Combination of alleles demonstrated an increased risk to PN-MPNs for one specific haplogroup. These findings may provide evidence for gene variants in susceptibility to MPNs. Indeed, common variants in DNA repair genes may hamper the capacity to repair DNA, thus increasing cancer susceptibility.

Occurrence of the Accessory Foramina of the Mandibular Ramus in Brazilian Adults and its Relation to Important Mandibular Landmarks

La presencia de foramenes accesorios de la rama mandibular (FARM) puede estar relacionada con fallas que ocurren en el bloqueo anestesico del nervio alveolar inferior y con complicaciones durante cirugias de la rama mandibular. El proposito del presente estudio fue determinar la presencia de FARM en adultos brasilenos y cuando estos estuvieren presentes, medir la distancia al foramen mandibular (FM), a la lingula de la mandibula (LM) y al margen posterior de la rama mandibular (MP), comparando estos datos en ambos lados de la mandibula. Para ello fueron seleccionadas 30 mandibulas humanas secas. El FARM fue considerado como cada foramen identificado entre el FM y MP. El FARM fue identificado en 15 de las 30 mandibulas examinadas (50 %), presentandose en el lado derecho en 4 casos (13,33 %), en el lado izquierdo en 4 (13,33 %) y en ambos lados en 7 (23,33 %). Los FARM son considerados como una variacion anatomica pero en este estudio estuvo presente en una de cada dos mandibulas, con la misma frecuencia en ambas mandibulas. En el caso de presencia del FARM, el profesional sera capaz de identificarlo en una posicion central entre el FM y el MP, distante 7 mm aproximadamente del FM y a 10,5 mm de la LM en ambos lados de la mandibula.

The Role of Caspase Genes Polymorphisms in Genetic Susceptibility to Philadelphia-Negative Myeloproliferative Neoplasms in a Portuguese Population

Our main aim was to evaluate the role of caspases’ genes SNPs in Philadelphia-chromosome negative chronic myeloproliferative neoplasms (PN-MPNs) susceptibility. A case-control study in 133 Caucasian Portuguese PN-MPNs patients and 281 matched controls was carried out, studying SNPs in apoptosis related caspases: rs1045485 and rs1035142 (CASP8), rs1052576, rs2308950, rs1132312 and rs1052571 (CASP9), rs2227309 and rs2227310 (CASP7) and rs13006529 (CASP10). After stratification by pathology diagnosis for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk for those carrying at least one variant allele for CASP9 (C653T) polymorphism (OR 2.300 CI 95% [1.180–4.484], P = 0.014). However, when considered individually, none of the studied caspases polymorphisms was associated with PN-MPNs risk. Our results do not reveal a significant involvement of caspase genes polymorphisms on the individual susceptibility towards PN-MPNs as a whole. However, for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk to those carrying at least one variant allele for CASP9. Although larger studies are required to confirm these results and to provide conclusive evidence of association between these and other caspases variants and PN-MPNs susceptibility, these new data may contribute to a best knowledge of the pathophysiology of these disorders and, in the future, to a more rational and efficient choice of therapeutic strategies to be adopted in PN-MPNs treatment.

Concomitant myeloproliferative and lymphoproliferative neoplasms, distinct progenitors: A case report and review of the literature

Patients with a Philadelphia chromosome-negative myeloproliferative neoplasm may develop a lymphoproliferative disorder; however, the clinical and molecular determinants and the chronological onset of the two events remain unknown. We herein report the case of a 64-year-old man with concomitant diagnosis of high-risk essential thrombocythemia with evidence of a thrombotic event and high-count monoclonal B-cell lymphocytosis (high-count MBL). The patient harbored a JAK2V617F mutation and one of the most common genetic alterations found in chronic lymphocytic leukemia (CLL) (del 13q), which may represent a sign of disease progression. He was initiated on cytoreductive therapy with hydroxyurea 500 mg 3 times per week and hypocoagulation treatment, and is currently under regular surveillance of MBL without CLL criteria.

Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)

Myeloproliferative neoplasms (MPNs) are classically divided into BCR RhoGEF and GTPase activating protein (BCR)-ABL proto‑oncogene 1 non‑receptor tyrosine kinase (ABL) positive chronic myeloid leukemia (CML) and BCR‑ABL negative MPNs, including essential thrombocythemia (ET). One of the major diagnostic criteria for ET is the absence of the philadelphia chromosome, thus when present it is almost indicative of CML. ET and CML are considered to be mutually exclusive; however, there are rare situations in which patients with ET present positive BCR‑ABL without the features of CML. Although from the literature review, the frequency of JAK2V617F mutation and BCR‑ABL translocation coexistence in MPNs is low, it may be higher than expected. The current study reported cases of two patients with an initial diagnosis of ET in the presence of JAK2V617F mutation and BCR‑ABL translocation by fluorescent in situ hybridization. Both patients presented with a heterozygous BCR‑ABL translocation, and absence of p190 and p210 transcripts, seemingly a der(9) in the background of an ET JAK2V617F mutation.

Bisoprolol-induced thrombocytopenia: A case report

Thrombocytopenia, not associated with bone marrow primary disease, is a common clinical problem. The possibility of drug‐induced thrombocytopenia must be considered, especially in hospitalized patients. Drugs can cause thrombocytopenia by several mechanisms including direct bone marrow or other organ toxicity, and immune reactions.

Treatment Sequencing in a Chronic Lymphocytic Leukemia Patient with Central Nervous System Involvement

Early-stage chronic lymphocytic leukemia (CLL) with neurologic involvement is a rare condition and should require a careful follow-up. Although no standard protocol exists for this condition, intrathecal chemotherapy, combined with systemic chemoimmunotherapy, has been used previously. This case describes the treatment of a patient with CLL and symptomatic compromise of the central nervous system. Our results suggest that a combination of chemotherapy, radiotherapy, and ibrutinib, administered sequentially over a 2-year period, led to a near-complete resolution of the cerebral spinal fluid neoplastic infiltration. Importantly, this response has been maintained with ibrutinib monotherapy for more than 12 months.

V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Introduction: The identification of BCR-ABL expression as the defining leukemogenic event in chronic myeloid leukemia (CML) and the introduction of BCR-ABL tyrosine kinase inhibitors in 2001 have revolutionized disease management, leading to a reduction in mortality rates and accordingly an increase in the estimated prevalence of CML. Case report: Based on medical records and clinical follow-up, the authors present the case of a Philadelphia chromosome–positive CML patient who developed resistance to imatinib. Quantitative reverse transcription-polymerase chain reaction testing revealed a V280G BCR-ABL mutation. Discussion and conclusions: This is the first report describing a new BCR-ABL kinase domain mutation—V280G—that might be associated with resistance to imatinib. Approximately 15% to 30% of patients treated with imatinib discontinue treatment due to resistance or intolerance. More than 90 BCR-ABL mutations were detected so far, conferring variable degrees of drug resistance, with consequent clinical, therapeutic, and prognostic impact.