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BACKGROUND AND OBJECTIVES: Anti-D is usually immune in nature and is formed in individuals lacking D antigen or having variants/altered D phenotypes. In the Indian population, 93.8% are RhD positive, and R1 R1 is the commonest Rh phenotype. Here we report a rare and interesting case of autoimmune anti-D in an RhD-positive 3-month-old infant leading to warm autoimmune haemolytic anaemia. STUDY DESIGN AND METHODS: Auto-anti-D was detected serologically by immunohaematological techniques such as direct antiglobulin test, antibody detection and identification, dithiothreitol, enzyme treatment, antibody titration and elution. Molecular studies were performed to rule out genetic variants of RhD. RESULTS: Anti-D was confirmed in eluate and blood group post elution was B RhD positive. On genotyping using the Indian-specific RHD genotyping assay, the sample was found to be negative for the RHD*01W.150 (most common RhD variant in Indians) but positive for RHD exon 5 and RHD exon 10 along with glyceraldehyde-3-phosphate dehydrogenase (GAPDH). The sample was further sequenced for RHD exons 1-10 by Sanger sequencing and found to be a wild type, thus, ruling out the presence of an RhD variant. CONCLUSION: This case is of interest because of the rare occurrence of autoimmune anti-D in an RhD-positive patient of such a young age (3 months). To the best of our knowledge, only two case reports have been published on autoimmune anti-D in infancy (in 1961 and 1964).
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Antígenos de Grupos Sanguíneos , Sistema do Grupo Sanguíneo Rh-Hr , Humanos , Lactente , Sistema do Grupo Sanguíneo Rh-Hr/genética , Fenótipo , Imunoglobulina rho(D)/genética , Éxons/genética , Alelos , GenótipoRESUMO
BACKGROUND: ACKR1 blood group genes exhibit a high degree of polymorphisms with varying allele distribution seen among different populations and ethnic groups. The study aimed to genotype ACKR1 antigens and to establish FY allele frequency among the individuals with the Bombay (Oh) blood group phenotype. MATERIALS AND METHODS: ACKR1 phenotype and genotype frequencies were estimated on 160 individuals typed as Oh and were compared with 100 non-oh blood donors from Mumbai, India by molecularly genotyping via PCR-RFLP. RESULTS: The allelic and genotypic frequency of T(-67)C polymorphism showed the dominance of T allele and TT genotype [OR= 3.26 (0.59-17.99)] in both the study groups. The ACKR1 null (Fya-b-) phenotype was not found in the tested group. While the genotypic combination among the Oh group individuals was FYA/FYB (45.3 %), FYA/FYA (42.7 %), and FYB/FYB (12 %), in the non-Oh group donors, it was observed as FYA/FYB (53.3 %), FYA/FYA (39.1 %), and FYB/FYB (7.6 %). The haplotype TGGGC occurred in 38.4 % of the Oh group, but in non-Oh donors, it was found to be 50.9 % [OR = 1.820 (1.196-2.771)], and the difference was statistically significant (p = 0.005). Similarly, the TGGGT haplotype was found at a frequency of 12.7 % in non-Oh donors and 27.1 % in Oh group [OR= 0.411 (0.234-0.722)] (p = 0.001). CONCLUSIONS: This study shows the prevalence of ACKR1 gene polymorphisms, including weak ACKR1 antigens in Oh individuals with a high frequency of haplotype TGGGC. The present study demonstrated for the first time the genotypes FyBweak, FyAweak and Fy Aweak/FyBESon RBC membranes in Indian subjects with Oh phenotype.
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The NCCN Guidelines for Breast Cancer Screening and Diagnosis provide health care providers with a practical, consistent framework for screening and evaluating a spectrum of clinical presentations and breast lesions. The NCCN Breast Cancer Screening and Diagnosis Panel is composed of a multidisciplinary team of experts in the field, including representation from medical oncology, gynecologic oncology, surgical oncology, internal medicine, family practice, preventive medicine, pathology, diagnostic and interventional radiology, as well as patient advocacy. The NCCN Breast Cancer Screening and Diagnosis Panel meets at least annually to review emerging data and comments from reviewers within their institutions to guide updates to existing recommendations. These NCCN Guidelines Insights summarize the panel's decision-making and discussion surrounding the most recent updates to the guideline's screening recommendations.
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Neoplasias da Mama , Detecção Precoce de Câncer , Humanos , Feminino , Neoplasias da Mama/diagnóstico , Medicina de Família e Comunidade , Pessoal de Saúde , OncologiaRESUMO
Bombay blood group phenotype is often mistyped as O group which can lead to hemolytic transfusion reactions. There are a very few case reports of Bombay blood group phenotype in pediatric age group. Herein, we report an interesting case of Bombay blood group phenotype in a fifteen-month-old pediatric patient who presented with features of raised intracranial pressure and required an emergency surgery. The Bombay blood group was detected on detailed immunohematology work up which was further confirmed by molecular genotyping. The challenges faced in developing countries for transfusion management of such a case have been discussed.
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Transfusão de Sangue , Reação Transfusional , Humanos , Fenótipo , Tipagem e Reações Cruzadas Sanguíneas , Sistema ABO de Grupos Sanguíneos/genéticaRESUMO
Background: Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology of several clinical conditions including transfusion-related acute lung injury (TRALI), alloimmune and autoimmune neutropenia, and febrile nonhemolytic transfusion reactions leading to neutropenia. The cognate antigens are polymorphic structures expressed on several glycoproteins on the neutrophils, i.e., antigens HNA-1a, -1b, -1c, and -1d on Fc-γ-receptor IIIb; HNA-2 on CD177; HNA-3a and -3b on choline transporter-like protein 2; HNA-4a and -4b on CD11b/αM subunit of the αMß2-integrin (CD11b/CD18, Mac-1, CR3); and HNA-5a and -5b on αL-subunit (CD11a) of the αLß2 integrin (CD11a/CD18), leukocyte function associated molecule (LFA)-1. Currently, there is a lacuna of diagnostic methods for detection of HNA in India. This study aimed to determine the HNA frequencies in Indians, estimate the risk of alloimmunization, and prepare typed neutrophil panels, which can be used to detect HNA antibodies in neutropenia cases. Material and Methods: EDTA blood samples were collected from random 1,054 blood donors. HNA-2 was phenotyped on fresh EDTA samples using FITC labelled monoclonal anti-CD177 by flowcytometry. HNA-1 (FCGR3B) genotyping was carried out by DNA sequencing and PCR-RFLP. Antigens of HNA-3 (SLC44A2) and HNA-5 (ITGAL) were genotyped by PCR-RFLP using TaqαI and Bsp1286I restriction enzymes, respectively, while HNA-4 (ITGAM) was genotyped by PCR-SSP. Results: Allele frequencies of FCGR3B*01, FCGR3B*02, and FCGR3B*03 were found to be 0.433, 0.444, and 0.087, respectively. FCGR3B*01+*02+*03- was the most common genotype (33.78%). Ten individuals showed deficiency of FCGR3B individuals, while 23 showed hyperexpression, i.e., FCGR3B*01+*02+*03+. FCGR3B*04and *05 occurred with a frequency of 0.002 and 0.024. HNA-2 was found to be a high frequency antigen occurring in 98.8% population. Four percent individuals showed atypical expression of CD177 on their neutrophils. Allele frequencies of SLC44A2*01 and SLC44A2*02were 0.812 and 0.188, respectively, and that of ITGAM*01, ITGAM*02, ITGAL*01, and ITGAL*02 were 0.9546, 0.0454, 0.2372, and 0.7628, respectively. Conclusion: This is the first study in India to report the frequencies of HNA among blood donors. Typed neutrophil panels identified in the present study will enable us to investigate suspected cases of immune neutropenia in future.
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BACKGROUND: Adherence to screening guidelines among transgender and non-binary (TGNB) populations is not well studied. This study examines breast cancer screening patterns among TGNB patients at an urban academic medical center. METHODS: Demographic information, risk factors, and screening mammography were collected. Mammography rates were calculated in populations of interest according to national guidelines, and mammogram person-years were also calculated. Univariate and multivariate logistic regression was performed. RESULTS: Overall, 253 patients were analyzed: 193 transgender women and non-binary people designated male at birth (TGNB DMAB) and 60 transgender men and non-binary people designated female at birth (TGNB DFAB). The median (interquartile range) age was 53.2 years (42.3-62.6). Most patients had no family history of breast cancer (n = 163, 64.4%) and were on hormone therapy (n = 191, 75.5%). Most patients where White (n = 164, 64.8%), employed (n = 113, 44.7%), and had public insurance (n = 128, 50.6%). TGNB DFAB breast screening rates were low, ranging from 2.0 to 50.0%, as were TGNB DMAB screening rates, ranging from 7.1 to 47.6%. The screening rates among the TGNB DFAB and TGNB DMAB groups did not significantly differ from one another. Among TGNB DFAB patients, univariate analyses showed no significant predictors for mammography. Among TGNB DMAB patients, not being on hormone therapy resulted in fewer odds of undergoing mammography. There were no significant findings on multivariate analyses. CONCLUSION: Mammography rates in the TGNB population are lower than institutional and national rates for cisgender patients, which are 77.3% and 66.7-78.4%, respectively. Stage of transition, organs present, hormone therapy, and risk factors should be considered to guide screening.
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Neoplasias da Mama , Pessoas Transgênero , Neoplasias da Mama/diagnóstico por imagem , Detecção Precoce de Câncer , Feminino , Humanos , Recém-Nascido , Masculino , Mamografia , Programas de Rastreamento , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: Although physical activity is associated with better health outcomes in breast cancer survivors (BCS), activity often declines during cancer treatment. Social cognitive theory (SCT) constructs have been associated with physical activity in post-treatment BCS, but little is known about the relation between these constructs and physical activity during chemotherapy. METHODS: BCS (n = 67; Mage = 48.6 [SD = 10.3]) undergoing chemotherapy wore accelerometers and completed prompts in the morning and at night assessing same-day and next-day exercise self-efficacy, physical and psychological outcome expectations, and goal-setting for 10 consecutive days (3 days pre-, day of, and 6 days post-chemotherapy dose) at three time points (beginning, middle, and end of chemotherapy). Separate mixed models assessed between- and within-person associations of each of the SCT constructs associations with same- and next-day moderate to vigorous physical activity (MVPA) and light physical activity (LPA), independently. RESULTS: Within-person differences in all SCT variables were statistically significantly related to same-day MVPA (p's < 0.001) and LPA (p's < 0.001). Every one-point increase in SCT construct related to an increase in MVPA ranging from (a) 3.70 (self-efficacy) to 8.02 (physical outcome expectations) minute increase in MVPA and (b) 12.72 (self-efficacy) to 20.38 (physical outcome expectations) increase in LPA that day. No same-day between-person effects nor any next-day effects were significant. CONCLUSION: MVPA and LPA were related to same-day within-person differences in SCT variables. Interventions targeted at increasing or mitigating chemotherapy-related declines in daily within-person changes in SCT constructs could help to increase physical activity among BCS during chemotherapy.
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Neoplasias da Mama , Sobreviventes de Câncer , Neoplasias da Mama/tratamento farmacológico , Sobreviventes de Câncer/psicologia , Cognição , Exercício Físico/psicologia , Feminino , Humanos , Pessoa de Meia-Idade , AutoeficáciaRESUMO
INTRODUCTION: Poor operative ergonomics can lead to muscle fatigue and injury. However, formal ergonomics education is uncommon in surgical residencies. Our study examines the prevalence of musculoskeletal (MSK) symptoms, baseline ergonomics knowledge, and the impact of an ergonomics workshop in general surgery residents. METHODS: An anonymous voluntary presurvey and postsurvey was distributed to all general surgery residents at a single academic residency, assessing resident characteristics, MSK symptoms, and ergonomic knowledge before and after an ergonomics workshop. The workshop consisted of a lecture and a personalized posture coaching session with a physiatrist. RESULTS: The presurvey received 33/35 (94%) responses. Of respondents, 100% reported some degree of MSK pain. Prevalence of muscle stiffness and fatigue decreased with increasing height. Females reported higher frequencies of MSK pain (P = 0.01) and more muscle fatigue than males (100% versus 73%, P = 0.03). All residents reported little to no ergonomics knowledge with 68% reporting that ergonomics was rarely discussed in the operating room. The postsurvey received 26/35 (74%) responses. Of respondents, 100% reported the workshop was an effective method of ergonomics education. MSK symptom severity improved in 82% of residents. Reports that ergonomics was rarely discussed in the operating room significantly decreased to 22.8% of residents (P < 0.01). CONCLUSIONS: Surgical resident ergonomics knowledge is poor and MSK symptoms are common. Resident characteristics are associated with different MSK symptoms. Didactic teaching and personalized posture coaching improve ergonomics knowledge and reduce MSK symptom severity. Surgical residencies should consider implementing similar interventions to improve resident wellbeing.
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Internato e Residência , Dor Musculoesquelética , Masculino , Feminino , Humanos , Ergonomia , Currículo , Dor Musculoesquelética/epidemiologia , Salas CirúrgicasRESUMO
PURPOSE: Understanding real-time relationships between physical activity (PA) and symptoms during chemotherapy (CT) could have important implications for intervention. This study used ecological momentary assessment to examine the relationship between objective PA and symptoms during CT. METHODS: Breast cancers patients (n = 67; Mage = 48.6 (SD = 10.3)) participated in data collection at three time points during CT: beginning, middle, and end. At each time point, participants answered four prompts assessing symptoms and wore an accelerometer for 10 days (3 days pre-CT, day of CT, and 6 days post-CT). Multilevel linear regression models examined the between- and within-person associations between moderate to vigorous (MVPA) and light-intensity physical activity (LPA) and same and next-day symptom ratings controlling for covariates. RESULTS: On days when individuals engaged in more LPA or MVPA, separately, they reported improved affect, anxiety, fatigue, physical functioning (walking and activities of daily living), pain, and cognition that day (p < 0.001 for all). Findings were consistent for next-day symptom ratings with the exception that only previous day LPA was related to next-day fatigue and neither LPA nor MVPA were related to next-day cognition (p < 0.001 for all). No between-person effects were found. CONCLUSIONS: Within person higher than usual PA on a given day, regardless of intensity, is associated with improved symptoms ratings on the current and next day. IMPLICATIONS FOR CANCER SURVIVORS: Encouraging breast cancer patients undergoing CT to engage in daily PA could help manage CT-associated symptoms.
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Neoplasias da Mama , Avaliação Momentânea Ecológica , Atividades Cotidianas , Neoplasias da Mama/tratamento farmacológico , Exercício Físico , Fadiga/etiologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Chemotherapy use closer to the end of life is a marker of poor-quality care. There are now multiple studies and local reviews addressing this issue. Understanding the practice locally will give valuable insight and opportunity for improvement. METHODS: The study is a retrospective chart review of patients on chemotherapy at the Windsor Regional Cancer Center who died between April 1st, 2016 to December 31st, 2018. Information on demographics, type of cancer, type, intent and route of chemotherapy, line of chemotherapy, referral to hospice and palliative care services was collected. RESULTS: A total of 681 patients on chemotherapy died between April 1st, 2016 to Dec 13th, 2018. Of these, 119 (17.4 %) died within 30 days following chemotherapy. Chemotherapy was parenteral (Intravenous and Subcutaneous) for the majority (75.2%) of the patients. Most (66.4%) of the patients died of disease progression. Intent for chemotherapy was palliative in 85% of patients, adjuvant/neoadjuvant in 6.6% and curative in 8.4% of the patients. Chemotherapy was 1st, 2nd, 3rd line or more in 67.4%, 21.3% and 11.3% of the patients respectively. The type of chemotherapy was conventional in 74.3% of patients and targeted/immunotherapy in 25.7% of patients. Of the variables studied, lack of palliative referral and having lung cancer or melanoma were significantly associated with higher risk of getting chemotherapy within the last 30 days of life. The odds of getting chemotherapy within the last 30 days of life was 0.35, 95% CI (0.24-0.53), P <0.001 for those who were referred to palliative care. On the other hand, the odds of getting chemotherapy were 4.18, 95% CI (1.17-13.71), P = 0.037 and 2.21, 95% CI (1.24-4.01), P = 0.037 for those with melanoma and lung cancer respectively. In addition, those with early referral to palliative care (90 days or more prior to death) were least likely to receive chemotherapy within the last 30 days of life. CONCLUSION: Administration of chemotherapy within the last 30 days of life could cause unnecessary suffering to patients and cost to society. Early referral to palliative care was significantly associated with reduced risk of getting chemotherapy within the last 30 days of life in this study. Prospective study is recommended to further investigate the role of early palliative referral on use of chemotherapy during the last 30 days of life.
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Neoplasias Pulmonares , Neoplasias , Assistência Terminal , Humanos , Neoplasias/tratamento farmacológico , Cuidados Paliativos , Estudos Prospectivos , Encaminhamento e Consulta , Estudos RetrospectivosRESUMO
BACKGROUND: Sentinel lymph node biopsy (SLNB) has been the standard of care for clinically node-negative women with invasive breast cancer (IBC); however, there is less agreement on whether to perform SLNB when the risk of metastasis is low or when it does not affect survival or locoregional control. METHODS: An Institutional Review Board-approved survey was sent to members of the American Society of Breast Surgeons asking in which scenarios surgeons would recommend SLNB. Descriptive statistics and multivariable analysis were performed using SPSS software. RESULTS: There was a 23% response rate; 68% identified as breast surgical oncologists, 6% as surgical oncologists, 24% as general surgeons, and 2% as other. The majority practiced in a community setting (71%) versus an academic setting (29%). In a healthy female with clinical T1N0 hormone receptor-positive (HR+) IBC, 83% favored SLNB if the patient was 75 years of age, versus 35% if the patient was 85 years of age. Academic surgeons were less likely to perform axillary staging in a healthy 75-year-old (odds ratio [OR] 0.51 [0.32-0.80], p = 0.004) or a healthy 85-year-old (OR 0.48 [0.31-0.74], p = 0.001). For DCIS, 32% endorsed SLNB in women undergoing lumpectomy, with breast surgical oncologists and academic surgeons being less likely to endorse this procedure (OR 0.54 [0.36-0.82], p = 0.028; and OR 0.53 [0.34-0.83], p = 0.005, respectively). CONCLUSIONS: Despite studies showing that omitting SLNB in older patients with HR+ IBC does not impact regional control or survival, most surgeons are still opting for axillary staging. In addition, one in three are performing SLNB for lumpectomies for DCIS. Breast surgical oncologists and academic surgeons were more likely to be practicing based on recent data and guidelines. Practice patterns are changing but there is still room for improvement.
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Neoplasias da Mama , Cirurgiões , Idoso , Idoso de 80 Anos ou mais , Axila/patologia , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Feminino , Humanos , Excisão de Linfonodo , Mastectomia Segmentar , Estadiamento de Neoplasias , Biópsia de Linfonodo SentinelaRESUMO
BACKGROUND: Two-dimensional (2D) specimen radiography (SR) and tomosynthesis (DBT) for breast cancer yield data that lack high-depth resolution. A volumetric specimen imager (VSI) was developed to provide full-3D and thin-slice cross-sectional visualization at a 360° view angle. The purpose of this prospective trial was to compare VSI, 2D SR, and DBT interpretation of lumpectomy margin status with the final pathologic margin status of breast lumpectomy specimens. METHODS: The study enrolled 200 cases from two institutions. After standard imaging and interpretation was performed, the main lumpectomy specimen was imaged with the VSI device. Image interpretation was performed by three radiologists after surgery based on VSI, 2D SR, and DBT. A receiver operating characteristic (ROC) curve was created for each method. The area under the curve (AUC) was computed to characterize the performance of the imaging method interpreted by each user. RESULTS: From 200 lesions, 1200 margins were interpreted. The AUC values of VSI for the three radiologists were respectively 0.91, 0.90, and 0.94, showing relative improvement over the AUCs of 2D SR by 54%, 13%, and 40% and DBT by 32% and 11%, respectively. The VSI has sensitivity ranging from 91 to 94%, specificity ranging from 81 to 85%, a positive predictive value ranging from 25 to 30%, and a negative predicative value of 99%. CONCLUSIONS: The ROC curves of the VSI were higher than those of the other specimen imaging methods. Full-3D specimen imaging can improve the correlation between the main lumpectomy specimen margin status and surgical pathology. The findings from this study suggest that using the VSI device for intraoperative margin assessment could further reduce the re-excision rates for women with malignant disease.
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Neoplasias da Mama , Mastectomia Segmentar , Mama , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/cirurgia , Estudos Transversais , Feminino , Humanos , Mamografia , Estudos ProspectivosRESUMO
BACKGROUND: With increasing use of sentinel lymph node biopsy (SLNB) after neoadjuvant chemotherapy (NAC), preoperative imaging assessment of axillary lymph nodes (ALNs) has become more important in operative planning and patient counseling. We aimed to assess if MRI is an accurate predictor of the ALN status after NAC. METHODS: We used our institutional proprietary prospective database to review all patients with newly diagnosed breast cancer between August 2015 and March 2017 who received NAC, underwent post-NAC MRI, and axillary surgery. Imaging findings, axillary surgery, and histopathology results were analyzed. RESULTS: Of 114 patients receiving NAC, 50 underwent post-NAC MRI before surgery. The mean age was 46 y; 36% were triple-negative, 26% were triple-positive, 26% were ER-positive and HER2/neu-negative, and 12% were ER-negative and Her2/neu-positive. Post-NAC MRI ALN status was normal in 35 patients, of which 30 underwent SLNB and five went directly to axillary lymph node dissection (ALND). 26 of these 35 were negative for metastasis on final pathology resulting in a negative-predictive value of 74.3%. In 15 patients with an abnormal post-NAC MRI ALN status, eight went directly to ALND and seven underwent SLNB. Eight of these 15 were positive for metastasis on final pathology resulting in a positive predictive value of 53.3%. CONCLUSIONS: Assessment of axillary imaging findings on post-NAC MRI predicts the absence of nodal disease with higher accuracy than its presence but not with adequate accuracy as surrogate for surgical pathologic evaluation of ALNs. This information is valuable in both patient counseling and axillary surgical management after NAC.
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Neoplasias da Mama/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Imageamento por Ressonância Magnética/estatística & dados numéricos , Terapia Neoadjuvante , Biópsia de Linfonodo Sentinela , Adulto , Axila , Neoplasias da Mama/tratamento farmacológico , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: The current obesity epidemic is associated with increased health care costs associated with comorbidities such as diabetes and heart disease as well as postoperative complications. However, the effect of obesity on operating room (OR) utilization, especially in common breast procedures, has not been completely evaluated. Our study is the first to examine the effect of patient obesity on operative time (OPT) for common breast procedures. METHODS: The American College of Surgeons National Surgical Quality Improvement Project databases for 2010-2018 were searched for this retrospective review. Patients undergoing common breast operations (lumpectomy, lumpectomy with sentinel lymph node biopsy (SLNB) (+/- injection), lumpectomy and axillary lymph node dissection (ALND), simple mastectomy, mastectomy with SLNB (+/- injection), and mastectomy with ALND) were filtered out by Current Procedural Terminology code and divided into three groups based on their body mass index (BMI) and weight. Using the two-sample t-test, OPT for the procedures was compared among the lowest and highest BMI and weight categories. We also used a linear regression t-test to demonstrate that for every unit increase in BMI, there was a corresponding increase in OPT for each procedure. RESULTS: When the lowest and highest BMI and weight groups were compared, significant differences in OPT (P < 0.0001) were seen for each of the procedures. Numerous factors that could affect the complexity of surgery and thus OR time were identified. The correlation between BMI and weight and OPT remained significant after controlling for these variables. The differences between the highest and lowest BMI groups were most pronounced for higher complexity procedures, such as lumpectomy with ALND and mastectomy with ALND, with average operating times increasing by 18.2 min and 18.6 min, respectively, for patients with a higher BMI. CONCLUSIONS: Patient BMI and weight significantly affect OPT for common breast procedures. Therefore, patient BMI should be taken into account to improve OR scheduling.
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Neoplasias da Mama/cirurgia , Utilização de Instalações e Serviços/estatística & dados numéricos , Mastectomia/métodos , Obesidade/complicações , Salas Cirúrgicas/estatística & dados numéricos , Duração da Cirurgia , Adulto , Idoso , Índice de Massa Corporal , Peso Corporal , Neoplasias da Mama/complicações , Feminino , Humanos , Modelos Lineares , Excisão de Linfonodo/métodos , Excisão de Linfonodo/estatística & dados numéricos , Mastectomia/estatística & dados numéricos , Pessoa de Meia-Idade , Obesidade/diagnóstico , Estudos RetrospectivosRESUMO
BACKGROUND: RhD expression varies with population and ethnicity. Accurate typing of RhD antigen among blood donors is important to prevent development of anti-D among recipients of blood transfusion. We aimed to screen blood donors for variant D phenotypes and accurately characterize them by genotyping. MATERIAL AND METHODS: We have done prospective study on blood donors by performing RhD typing using three different commercial monoclonal anti-D reagents by both column agglutination and conventional tube techniques. Samples that showed ambiguous results were further screened with the Bio-Rad Partial RhD typing kit. Minor phenotyping for C, c, E, e antigens was performed. Multiplex PCR and Sequencing of all RHD exons with Sanger's sequencing was performed for molecular characterization of variant D. RESULTS: A total of 16,974 blood donors were screened during the study period. Among them, 31 (0.18 %) donors were found to have a RhD variant phenotype. The male to female ratio was 10:1. The presence of 'C' antigen was noted among all RhD variant samples. Serological typing identified two samples as DV phenotype and the rest could not be characterized. Molecular genotyping characterized 90.3 % of the samples as Indian specific weak D type 150 variants. Three samples were subjected to Sangers sequencing and showed wild type pattern. CONCLUSION: The present study showed that the most common variant in this population was Weak D type 150. This study highlights that serological methods may serve as a screening tool, however, molecular techniques are essential for characterization of RhD variants.
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Doadores de Sangue , Variação Genética , Sistema do Grupo Sanguíneo Rh-Hr/genética , Feminino , Humanos , Índia , Masculino , Estudos Prospectivos , Análise de Sequência de DNARESUMO
Unusual Rh phenotypes such as Rhnull, D-- and Dc- etc. are rarely encountered in routine blood bank testing. The Rhnull phenotype is characterized by the absence of all Rh antigens, D-- phenotype does not express any RhCcEe antigens whereas Dc- phenotype individual lacks expression of antithetical E /e antigens. These individuals may produce multiple Rh antibodies against missing antigens. An old woman (B RhD positive) from Bangladesh with end-stage renal disease developed severe anaemia. Cross-matching with ABO and RhD compatible blood units showed +3 agglutination reaction. Detailed immunohaematological investigations showed a lack of C, E and e antigens, thus identifying the rare Rh variant as Dc-. Antibodies against C and e antigens were also detected in the patient's serum. PCR-SSP confirmed the absence of the molecular region defining the C, E and e antigens. Copy number analysis by QMPSF revealed the homozygous state of (RHCE-D(4-9)-CE) allele at the RHCE gene locus. This is the first report of the rare Dc- variant individual from the Indian subcontinent.
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Sistema do Grupo Sanguíneo Rh-Hr/genética , Feminino , Humanos , Índia , Pessoa de Meia-Idade , FenótipoRESUMO
BACKGROUND: D antigen is one among the most immunogenic antigens and is the most common cause of Haemolytic Disease of Fetus and Newborn (HDFN). The D-phenotype is a rare Rh variant in which none of the RhCE antigens are expressed on the red cell surface. Individuals having D-phenotype are capable of producing a rare alloantibody named as anti-Rh17(Hr° ) in response to pregnancy or transfusion and has the potential to react with C/c and E/e antigens causing severe haemolytic transfusion reaction (HTR) and haemolytic disease of fetus and newborn (HDFN). CASE REPORT: We have encountered a case of severe HDFN with an accidental discovery of D- phenotype of the mother with anti-Rh-17 antibodies. D- phenotype has been confirmed with molecular typing along with genotyping of all family members. CONCLUSION: Rare phenotypes like D- individuals especially if allo-immunised are of great concern at times of transfusion requirements. Hence, proper identification of these individuals are important to contribute them to the rare donor pool and to adopt adequate patient blood management strategies.
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Eritroblastose Fetal , Sistema do Grupo Sanguíneo Rh-Hr , Eritroblastose Fetal/genética , Eritroblastose Fetal/terapia , Eritrócitos , Feminino , Feto , Humanos , Fenótipo , Gravidez , Sistema do Grupo Sanguíneo Rh-Hr/genéticaRESUMO
Background & objectives: Patients with thalasssaemia are at a risk of alloimmunization and the presence of RBC alloantibodies further complicates transfusion therapy. Matching for the critical antigens of Rh, Kell, Kidd and Duffy blood group systems has been shown to minimize alloimmunization. The aim of the present study was to create a database of extensively typed donors for clinically significant and common blood group antigens of Rh, Kidd, Kell and Duffy systems for transfusion therapy of multitransfused thalassaemic patients. Methods: Five hundred O group regular blood donors were phenotyped for Rh, Kell, Duffy and Kidd blood group antigens using haemagglutination technique. Eighty four non-alloimmunized and 15 alloimmunized thalassaemia major patients with known antigenic profiles (determined by polymerase chain reaction with sequence-specific primers) were selected for this study. Results: By analyzing antigen profiles of 500 O group regular donors, a database of 193 donors matching perfectly for Rh, Duffy, Kell and Kidd antigens was prepared for 15 alloimmunized patients. For non-alloimmunized 84 thalassaemic patients, a database of 405 donors was created. Interpretation & conclusions: A database of 500 regular blood donors phenotyped for common antigens of Rh, Duffy, Kell and Kidd blood group systems was created, which would be useful in providing extended antigen-matched RBCs for thalassaemia patients. This will improve the quality and effectiveness of transfusion therapy.
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Antígenos de Grupos Sanguíneos , Talassemia , Doadores de Sangue , Tipagem e Reações Cruzadas Sanguíneas , Eritrócitos , Humanos , Isoanticorpos , Fenótipo , Talassemia/terapiaRESUMO
Breast cancer risk assessment continues to evolve as emerging knowledge of breast cancer risk drivers and modifiers enables better identification of high-risk women who may benefit from increased screening or targeted risk-reduction protocols. The ongoing development of breast cancer Risk Assessment and Management Programs (RAMPs) presents an opportunity to decrease breast cancer disease incidence with evidence-based interventions. The goal of this review was to provide a practical guide for providers seeking to establish or update a breast cancer risk assessment and management program. We outline genetic/familial, personal, reproductive, and lifestyle-related factors while discussing the incorporation of risk modeling for precise risk estimate personalization. We further describe the process for determining a risk management plan: information gathering, generation of a risk profile, and articulation and implementation of risk reduction. We also include an overview of clinical workflows in breast cancer management programs and underlines the logistics of establishing a program as well as general principles for guiding the formulation of an individualized risk management plan. We discuss practical considerations, such as clinic structure and operation, allocation of resources, and patient education. Other critical aspects of program design, including identification of the target population, delineation of the core components of the clinical experience, definition of provider roles, description of referral mechanisms, and the launching of a marketing plan are also addressed. The process of risk assessment is both anxiety-provoking and empowering for women at increased risk. New knowledge has enabled strategies to both understand the risk and control it through evidence-based risk management. These benefits can now be realized by an increasing number of unaffected, high-risk patients collaborating with risk management practitioners. Continuation of these efforts will lead to further progress in both risk stratification and risk management of women at elevated breast cancer risk in the near future.
Assuntos
Neoplasias da Mama , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/terapia , Feminino , Humanos , Programas de Rastreamento , Encaminhamento e Consulta , Medição de RiscoRESUMO
PURPOSE: Newly diagnosed breast cancer patients greatly overestimate their risk of developing contralateral breast cancer (CBC). Better understanding of patient conceptions of risk would facilitate doctor-patient communication and surgical decision making. In this mixed methods study, we prospectively examined breast cancer patients' perceived risk of future cancer and the reported factors that drove their risk perceptions. METHODS: Women age 21-60 diagnosed with breast cancer without a BRCA mutation or known distant metastases completed a study interview between surgical consult and surgical treatment. Participants completed a 12-item Perceived Risk Questionnaire, which assessed 10-year and lifetime risks of ipsilateral local recurrence, CBC, and distant recurrence. Patients provided qualitative explanations for their answers. RESULTS: Sixty-three patients completed study interviews (mean age 50.3). Participants were primarily White (85.7%) and 90.5% had attended college. Patients estimated their 10-year risk of CBC as 22.0%, nearly 4 times the established 10-year risk. Women attributed their risk perceptions to "gut feelings" about future cancer, even when women knew those feelings contradicted medically established risk. Perceptions of risk also reflected beliefs that cancer is random and that risk for local recurrence, CBC, and distant recurrence are the same. CONCLUSIONS: Our findings point to the need for novel ways of presenting factual information regarding both risk of recurrence and of new primary cancers, as well as the necessity of acknowledging cognitive and affective processes many patients use when conceptualizing risk. By differentiating women's intuitive feelings about risk from their knowledge of medically estimated risk, doctors can enhance informed decision making.