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1.
Pathobiology ; 91(2): 114-120, 2024.
Article in English | MEDLINE | ID: mdl-37660687

ABSTRACT

INTRODUCTION: Many patients with locally advanced breast cancer are proposed to neoadjuvant chemotherapy (NAT) before surgery. Only some of them achieve a pathological complete response (pCR). The determination of gene somatic alterations using next-generation sequencing (NGS) in the non-pCR tumors is important, in order to identify potential opportunities of treatment for the patients, if targeted therapies are available. METHODS: Breast cancer tissue samples of 31 patients, collected before NAT, were analyzed by NGS using the Oncomine™ Comprehensive Assay Plus (OCA-Plus) panel. RESULTS: Twelve patients achieved pCR after NAT. ERBB2 gene alterations were the most frequent in this cohort of pCR patients, followed by BRCA 1 and 2, MYC, TP53, PIK3CA, and MET alterations. Tumors that did not achieve a pCR were mainly triple negative. In this subgroup some BRCA 1 and 2 and PIK3CA gene alterations were identified, as well as TP53 mutations. The NGS panel employed in this study also allowed for the determination of tumor mutation burden (TMB). CONCLUSION: This study showcases the significance of employing comprehensive genomic testing in breast cancer cases, primarily due to the scarcity of specific target assays. The detection of somatic mutations, coupled with the availability of targeted therapies, holds promise as a potential therapeutic avenue to enhance tumor response rates during NAT, or as a complementary treatment following surgery. Moreover, evaluating the TMB in non-pCR samples could serve as a valuable criterion for selecting patients suitable for immunotherapy. Further exploration through clinical trials is imperative to investigate these prospects.


Subject(s)
Breast Neoplasms , Humans , Female , Breast Neoplasms/therapy , Breast Neoplasms/drug therapy , Neoadjuvant Therapy , Mutation , Biomarkers, Tumor/genetics , High-Throughput Nucleotide Sequencing , Class I Phosphatidylinositol 3-Kinases/genetics
2.
Biomedicines ; 11(11)2023 Oct 27.
Article in English | MEDLINE | ID: mdl-38001907

ABSTRACT

BACKGROUND: Tumor budding (TB) is a dynamic process associated with the epithelial-mesenchymal transition and a well-established prognostic biomarker for colorectal cancer. As part of the tumor microenvironment, tumor buds demonstrate increased cell motility and invasiveness. Current evidence demonstrates that high levels of TB correlate with disease progression and worst outcomes across different solid tumors. Our work aims to demonstrate the clinical applicability of TB analysis and its utility as a prognostic factor for patients with early breast cancer (EBC). METHODS: Retrospective, single-center, observational study, enrolling patients with EBC diagnosed in a Portuguese hospital between 2014 and 2015. TB classification was performed according to the International Tumor Budding Conference 2016 guidelines. RESULTS: A statistically significant relation was found between higher TB score and aggressive clinicopathological features (angiolymphatic/perineural invasion-p < 0.001; tumor size-p = 0.012; nuclear grading-p < 0.001; and Ki-67 index-p = 0.011), higher number of relapses (p < 0.001), and short disease-free survival (DFS) (p < 0.001). CONCLUSION: We demonstrate that high TB correlates with shorter DFS and aggressive clinicopathological features used in daily practice to decide on the benefit of chemotherapy for EBC. TB represents a needed prognostic biomarker for EBC, comprising a new factor to be considered in the adjuvant decision-making process by identifying patients at a high risk of relapse and with higher benefit on treatment intensification. Clinical trials incorporating TB are needed to validate its prognostic impact.

3.
Cureus ; 15(2): e34724, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36909127

ABSTRACT

BACKGROUND: Human epidermal growth factor receptor 2 (HER2) is a member of the tyrosine kinase receptor family. It has been identified as an oncogene and is associated with poor outcomes in multiple tumor types. In hepatocellular carcinoma (HCC), there are contradictory data regarding the HER2 expression and its role in tumor development and progression. Some studies have identified HER2 expression as an early event during tumorigenesis, which decreases with progression and metastasis. Additional data provided evidence that treatment with anti-HER2 therapy resulted in local response and reduction in the metastasis rate in HCC mice models. METHODS: Patients with histological diagnoses of HCC between 2010 and 2020 were included. HER2 staining was performed by immunohistochemistry (IHC), and scoring was done in accordance with the gastric cancer guidelines as 0, 1+, 2+, and 3+. Clinicopathological features were accessed by medical records. This study aims to evaluate HER2 expression by IHC in HCC and to correlate this expression with some clinicopathological features such as Barcelona Clinic Liver Cancer (BCLC) staging, number of hepatic lesions, alpha-fetoprotein level, underlying liver disease, presence of liver cirrhosis, Child-Pugh score, and tumor recurrence. RESULTS: A total of 57 specimens from 54 patients were included. Of the patients, 85% were men, and the median age at diagnosis was 71 years (interquartile range: 59-75 years). Regarding stage, 61% were at stage 0-A of BCLC. Of the patients, 57% had a solitary HCC nodule. Concerning treatment, surgery was performed in 50% of the patients. HER2 expression was identified in seven patients: five in the membrane and two in the cytoplasm. Concerning the membrane staining, HER2 expression was scored as 1+/2+ in 7.4% (n = 4 patients). Of the patients with HER2 expression, four had a BCLC stage of 0-A and a single HCC nodule; alpha-fetoprotein was <400 ng/mL in all cases. There was no correlation to clinicopathological features. In one patient with HER2 2+ expression at diagnosis, this expression was not identified at tumor progression. Median disease-free survival in HER2 with IHC scores 1+/2+ and cytoplasmatic was 38 months versus 22 months in HER2 with a score of 0 (p = 0.604). CONCLUSIONS: HER2 expression is a rare event in HCC. It was not possible to identify any relation to clinicopathological features. However, when we relate our data to previous trials, HER2 appears to be an early event in the course of HCC.

4.
Cureus ; 15(1): e34007, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36811045

ABSTRACT

Background Localized prostate cancer is a heterogeneous entity, and new biomarkers are required for risk stratification. This study aimed to characterize tumor-infiltrating lymphocytes (TILs) in localized prostate cancer and assess their potential prognostic markers. Methodology Radical prostatectomy specimens were analyzed to determine infiltration levels of CD4+, CD8+, T cells, and B cells (characterized by CD20+ cells) in the tumor tissue using immunohistochemistry and the recommendations of the International TILs Working Group 2014. The clinical endpoint was biochemical recurrence (BCR), and the study sample was divided into two cohorts (cohort 1: without BCR; cohort 2: with BCR). Prognostic markers were assessed using Kaplan-Meier and univariate/multivariate Cox regression analysis using SPSS version 25 (IBM Corp., Armonk, NY, USA). Results We included 96 patients in this study. BCR occurred in 51% of the patients. Normal TILs infiltration was found in most of the patients (41/31, 87%/63%). T CD4+ infiltration was statistically superior in cohort 2. This enrichment was associated with BCR (p < 0.05; log-rank test). After adjustment for routine clinical variables and Gleason grade groups (grade group ≤2 and grade group ≥3), it remained an independent prognostic variable of early BCR (p < 0.05; multivariate Cox regression). Conclusions This study showed that immune cell infiltration appears to be an important prognostic variable for early recurrence in localized prostate cancer.

5.
Port J Card Thorac Vasc Surg ; 30(3): 89-91, 2023 Oct 11.
Article in English | MEDLINE | ID: mdl-38499029

ABSTRACT

Aortic coarctation is characterized by a segmental narrowing of the aortic lumen, usually diagnosed and treated in the neonatal period or early childhood, but can remain undiagnosed until adulthood. It manifests as a broad spectrum of signs and symptoms, ranging from mild to severe, of which arterial hypertension is one of the most common. In this article, the authors describe the clinical case of a 9-year-old child under investigation in the Pediatric Department for secondary causes of arterial hypertension. A renal Doppler ultrasound study revealed the presence of bilateral parvus et tardus waveform morphology in renal and intrarenal arteries and the proximal abdominal aorta. These findings were suspicious for diagnosing aortic coarctation, which thoracic CTangio confirmed.


Subject(s)
Aortic Coarctation , Hypertension , Child , Humans , Aorta, Abdominal/diagnostic imaging , Aortic Coarctation/diagnostic imaging , Delayed Diagnosis/adverse effects , Hypertension/complications , Ultrasonography, Doppler
6.
Cancers (Basel) ; 16(1)2023 Dec 23.
Article in English | MEDLINE | ID: mdl-38201515

ABSTRACT

Human epidermal growth factor 2 (HER-2)-positive breast cancer represents 15-20% of all breast cancer subtypes and has an aggressive biological behavior with worse prognosis. The development of HER-2-targeted therapies has changed the disease's course, having a direct impact on survival rates and quality of life. Drug development of HER-2-targeting therapies is a prolific field, with numerous new therapeutic strategies showing survival benefits and gaining regulatory approval in recent years. Furthermore, the acknowledgement of the survival impact of HER-2-directed therapies on HER-2-low breast cancer has contributed even more to advances in the field. The present review aims to summarize the newly approved therapeutic strategies for HER-2-positive breast cancer and review the new and exploratory HER-2-targeted therapies currently under development.

7.
Port J Card Thorac Vasc Surg ; 29(3): 59-62, 2022 Oct 05.
Article in English | MEDLINE | ID: mdl-36197825

ABSTRACT

INTRODUCTION: Cardiovocal or Ortner's syndrome is a rare cause of vocal cord paralysis. Damage to the left recurrent laryngeal nerve may be caused by an aortic arch aneurysm, in even rarer cases. CLINICAL CASE: A 60-year-old woman presented with hoarseness lasting for six months. Paralysis of the left vocal cord was confirmed with laryngoscopy and an aortic arch aneurysm was diagnosed on chest CT. Despite correction of the aortic aneurysm, her hoarseness did not improve. DISCUSSION: Mediastinal disease may cause vocal cord paralysis, due to the intrathoracic course of the recurrent laryngeal nerve. The assessment of the superior mediastinum on CT is mandatory in these cases. In cardiovocal syndrome, cardiovascular diseases damage the recurrent laryngeal nerve. Aortic aneurysms are a rare cause of Ortner's, especially when they affect the distal portion of the aortic arch and stretch the left recurrent laryngeal nerve at the aortopulmonary window.


Subject(s)
Aortic Aneurysm , Vocal Cord Paralysis , Aorta, Thoracic/diagnostic imaging , Aortic Aneurysm/complications , Female , Hoarseness/etiology , Humans , Middle Aged , Recurrent Laryngeal Nerve/diagnostic imaging , Syndrome , Vocal Cord Paralysis/diagnosis
8.
Breast Cancer (Auckl) ; 16: 11782234221107580, 2022.
Article in English | MEDLINE | ID: mdl-35783596

ABSTRACT

Representing 15% to 20% of all invasive breast cancers, adjuvant systemic treatment for early-stage, high-risk triple-negative breast cancer (TNBC) is preferentially done in the neoadjuvant setting based on a chemotherapy backbone of anthracyclines and taxanes. Pathological complete response to neoadjuvant treatment constitutes the main objective, regarding its correlation with oncological outcomes. The optimal neoadjuvant regimen to achieve the highest rates of pathological complete response is still under investigation, with the increasing knowledge on the molecular pathways, genomic sequencing, and immunological profile of TNBC allowing for the development of a wide array of new therapeutic options. This review aims to summarize the current evidence and ongoing clinical trials of new therapeutic options for the neoadjuvant treatment of TNBC patients.

9.
Medicine (Baltimore) ; 101(23): e29136, 2022 Jun 10.
Article in English | MEDLINE | ID: mdl-35687769

ABSTRACT

INTRODUCTION: Breast cancer comprises several different pathological entities defined by the presence or absence of hormonal receptors and human epidermal growth factor receptor 2 (HER2). During the disease course, the increase in tumor heterogeneity contributes to the discordant expression of estrogen/progesterone receptors and HER2 status between primary and metastatic lesions. We describe a case that demonstrates the clinical relevance of molecular reassessment during metastatic breast cancer progression. PATIENT CONCERNS: A 40-year-old Caucasian woman with germline breast cancer gene mutation was referred to a general surgery appointment after breast ultrasound revealed a suspicious nodular lesion in 2012. DIAGNOSIS: Ultrasound-guided microbiopsy revealed an invasive ductal carcinoma of no special type, hormone receptor-positive, and HER2-negative. INTERVENTIONS: The patient underwent modified radical left mastectomy, adjuvant radiotherapy, chemotherapy, and endocrine therapy. Four years after the diagnosis, HER2 positive lung progression was documented, and the patient received anti-HER2 targeted systemic therapy for 15 months. New disease progression with a triple-negative profile was found, and palliative systemic treatment was changed to carboplatin for 3 months until new progression. Based on the results of the OlympiAD trial, monotherapy with Olaparib 300 mg twice daily for 28 days was initiated. OUTCOMES: After seven cycles of treatment, patient showed progressive improvement in quality of life and maintained stable disease without significant adverse events. CONCLUSION: The clinical relevance of hormone receptor and HER2 status discordance between primary tumors and metastatic lesions has been studied in recent years. This case report illustrates the clinical impact of molecular changes during disease progression and the adaptation of treatment options. This allows for an increase in both survival and quality of life in patients with metastatic breast cancer.


Subject(s)
Breast Neoplasms , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Breast Neoplasms/drug therapy , Breast Neoplasms/therapy , Disease Progression , Female , Humans , Mastectomy , Quality of Life , Receptor, ErbB-2/genetics , Receptor, ErbB-2/metabolism
10.
Medicine (Baltimore) ; 101(24): e28940, 2022 Jun 17.
Article in English | MEDLINE | ID: mdl-35713423

ABSTRACT

INTRODUCTION: Bladder cancer is the tenth most common cancer worldwide, with Europe having the highest incidence rates. Regarding the treatment of metastatic disease, first-line treatment for fit patients is cisplatin-containing combination chemotherapy. However, a significant percentage of patients are ineligible for platinum-based chemotherapy, or progress under these regimens. Recently, immune checkpoint blockade has become a treatment option for this group of patients. In this report, we present the case of a male patient diagnosed with metastatic bladder cancer who did not tolerate cisplatin-containing chemotherapy and achieved complete response after treatment with pembrolizumab. PATIENT CONCERNS: A 58 years-old Caucasian man with a medical history of high-grade urothelial carcinoma pT3bN0R0 under a watchful waiting strategy for 6 months presented to the Medical Oncology appointment with two axillary and cervical adenopathies. DIAGNOSIS: Cervicothoracoabdominal computed tomography confirmed the presence of two large necrotic lymphadenopathies in the cervical and axillary lymphatic chains, and bone scintigraphy revealed dorsal (D11) and lumbar (L5) metastatic lesions. Ultrasonography-guided biopsy of the axillary nodule revealed the presence of metastatic tissue of primary urothelial origin. INTERVENTIONS: The patient was initiated on a palliative chemotherapy regimen of carboplatin area under the curve 5 plus gemcitabine (1000 mg/m2). During the first cycle of chemotherapy, acute kidney failure akin 2 developed due to nonobstructive toxic acute tubular necrosis with progressive deterioration of kidney function. Therefore, palliative chemotherapy with carboplatin plus gemcitabine was changed to 200 mg of pembrolizumab every 21 days. OUTCOMES: Overal survival of 57 months with an immune complete response according to the immune Response Evaluation Criteria in Solid Tumours criteria and an excellent quality of life. CONCLUSION: This case illustrates that second-line therapy with ICIs (pembrolizumab or atezolizumab) has favourable results in achieving an immune complete response after intolerance to cisplatin-based regimens. ICIs provide durable responses that improve overall survival and quality of life.


Subject(s)
Carcinoma, Transitional Cell , Urinary Bladder Neoplasms , Urologic Neoplasms , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Carboplatin/therapeutic use , Carcinoma, Transitional Cell/drug therapy , Cisplatin/therapeutic use , Humans , Immunologic Factors/therapeutic use , Immunotherapy , Male , Middle Aged , Quality of Life , Urinary Bladder Neoplasms/drug therapy , Urologic Neoplasms/drug therapy
11.
Cureus ; 14(3): e23598, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35494987

ABSTRACT

The treatment landscape of metastatic renal cell carcinoma (mRCC) has changed in the last decade with improvements in overall survival. Overall survival ranges from 57 months in good-to-intermediate prognosis patients to 19 months in poor prognosis patients. The most frequent sites of metastasis are the lungs, bone, distant lymph nodes, liver, adrenal, and brain. Cutaneous metastases are rare and represent an end-stage disease with a worse prognosis. Studying long-term survivors of mRCC can help clinicians to identify potential predictors of response to targeted therapy and define the best treatment sequences in this setting. In this case, we report a 59-year-old man with a good mRCC prognosis who is alive 156 months after the diagnosis of mRCC, 108 months with cutaneous metastases. The patient underwent five treatment lines, with good tolerance and quality of life. This therapeutic sequence was based on new treatment options and new evidence concerning mRCC.

12.
Cureus ; 14(3): e22925, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35399412

ABSTRACT

HER2-positive inflammatory breast cancer (IBC) is associated with poor overall survival. Targeted therapies have led to improved outcomes. IBC is underrepresented in clinical trials due to its rareness. This case reports a 52-year-old woman diagnosed with IBC of 119x89mm, axillar node-positive, hormone receptor-negative, HER2 positive. The patient underwent neoadjuvant chemotherapy with dual HER2 blockage. Mastectomy histology showed pathological complete response. After two cycles of adjuvant trastuzumab, the patient developed asymptomatic cardiotoxicity leading to the therapeutic suspension. Early recurrence and persisting cardiac alterations prevented treatment with anti-HER2 therapy. At the time of brain recurrence, with cardio-oncology collaboration, it was possible to start TDM-1, with a reduction of 71% of brain lesions size, after two cycles. This case highlights the effectiveness of anti-HER therapy in IBC and the importance of multidisciplinary discussion in treatment choice and toxicity management.

13.
Medicine (Baltimore) ; 100(40): e27348, 2021 Oct 08.
Article in English | MEDLINE | ID: mdl-34622834

ABSTRACT

RATIONALE: Colorectal mixed neuroendocrine-nonneuroendocrine neoplasms constitute a rare group of gastrointestinal tumors composed by both neuroendocrine and nonneuroendocrine components. Nondiagnostic macroscopic features, specific histological features, and poor awareness of the disease are responsible for the underestimated incidence and conflicting data available. Due to lack of randomized clinical trials and validated clinical guidelines, diagnostic and therapeutic approach are based on the standard of care for pure colorectal neuroendocrine carcinomas or adenocarcinomas. PATIENT CONCERNS: A 76-year-old caucasian male, without relevant medical or familial history, presented a positive faecal occult blood test during colorectal cancer screening. DIAGNOSIS: Total colonoscopy identified a rectal lesion with biopsy showing a moderate rectal adenocarcinoma staged as cT2N0M0. INTERVENTIONS: Anterior resection of the rectum with right ileostomy followed by local radiotherapy with radio-sensitising chemotherapy and adjuvant chemotherapy with capecitabine 1000 mg bid plus oxaliplatin 130 mg/m2. Due to chronic nodular pulmonary aspergillosis and chemotherapy induced immunosuppression patient was on 400 mg/daily of oral voriconazole. OUTCOMES: Overall survival of 15 months after progression under first line treatment and under palliative chemotherapy with platinum plus etoposide regimen. LESSONS: The reported case illustrates the challenge associated to the management of mixed neuroendocrine-nonneuroendocrine carcinomas due to lack of validated guidelines and scientific evidence. From diagnosis and staging to treatment, all steps must be tailored to individual clinical and histological features.


Subject(s)
Adenocarcinoma/pathology , Mixed Tumor, Malignant/pathology , Neuroendocrine Tumors/pathology , Rectal Neoplasms/pathology , Adenocarcinoma/therapy , Aged , Antimetabolites, Antineoplastic/administration & dosage , Antineoplastic Combined Chemotherapy Protocols , Capecitabine/administration & dosage , Fatal Outcome , Humans , Male , Mixed Tumor, Malignant/therapy , Neuroendocrine Tumors/therapy , Oxaliplatin/administration & dosage , Radiotherapy , Rectal Neoplasms/therapy , Rectum/surgery
14.
Breast Cancer (Auckl) ; 15: 11782234211002491, 2021.
Article in English | MEDLINE | ID: mdl-33814914

ABSTRACT

Metastatic triple-negative breast cancer (TNBC) is a heterogeneous disease with a poor prognosis and currently with few treatment options. Treatment of these patients is highly based on systemic chemotherapy. Some targeted drugs were recently approved for these patients: two poly(ADP-ribose) polymerase inhibitors in patients with germline BRCA1/2 mutations (olaparib and talazoparib), immune checkpoint inhibitors in association with chemotherapy if programmed death-ligand 1 positive (atezolizumab plus nabpaclitaxel and pembrolizumab plus chemotherapy [nabpaclitaxel, paclitaxel, and carboplatin plus gemcitabine]), and an antibody-drug conjugate sacituzumab-govitecan in heavily pretreated patients (at least 2 previous lines for the metastatic setting). Combinations using these and other targeted treatment options are under investigation in early and late clinical trials, and we will probably have some practice-changing results in the new future. Other targeted drugs explored in phase II and phase III clinical trials are PI3K/AKT pathway inhibitors and androgen receptor antagonists in patients with alterations in these signaling pathways. The definition of molecular subtypes has been essential for the development of these treatment strategies. Soon, the treatment of metastatic TNBC could be based on personalized medicine using molecular testing for targeted drugs instead of only systemic chemotherapy. The authors present a review of emerging treatment options in metastatic TNBC, focusing on targeted drugs, including the recent data published in 2020.

15.
Porto Biomed J ; 6(1): e127, 2021.
Article in English | MEDLINE | ID: mdl-33884323

ABSTRACT

At diagnosis, approximately 25% of urothelial carcinoma are invasive and only 15% of stage IV are alive at 5-years. We report a case of a 69-year-old woman with oligometastatic bladder cancer, treated with Atezolizumab in first-line, achieving a complete response after 4 cycles. Presently, the patient has an overall survival and progression free survival of 26 months with an improvement in her quality of life. Therefore, immunotherapy seems to be a promising treatment in advanced urothelial carcinoma. The previously performed radiotherapy, in association with a good performance status and oligometastatic disease, might have contributed to this admirable outcome.

16.
Cancers (Basel) ; 12(12)2020 Dec 16.
Article in English | MEDLINE | ID: mdl-33339259

ABSTRACT

Breast cancer is a complex disease whose molecular mechanisms are not completely understood. Developing target therapies is a promising approach. Therefore, understanding the biological behavior of the tumor is a challenge. Tissue biopsy in the metastatic setting remains the standard method for diagnosis. Nevertheless, it has been associated with some disadvantages: It is an invasive procedure, it may not represent tumor heterogeneity, and it does not allow for treatment efficacy to be assessed or early recurrences to be detected. Analysis of circulating tumor DNA (ctDNA) may help to overcome this as it is a non-invasive method of monitoring the disease. In early-stage disease, it can detect early recurrences and monitor tumors' genomic profiles, identifying the emergence of new genetic alterations which can be related to tumor-acquired resistance. In the metastatic setting, the analysis of ctDNA may also allow for the anticipation of clinical and radiological progression of the disease, selection of targeted therapies, and for a photogram of tumor heterogeneity to be provided. It may also detect disease progression earlier in locally advanced tumors submitted to neoadjuvant treatment, and identify minimal residual disease. ctDNA analysis may guide clinical decision-making in different scenarios, in a precision medicine era, once it acts as a repository of genetic tumor material, allowing for a comprehensive mutation profiling analysis. In this review, we focused on recent advances towards the implementation of ctDNA in a clinical routine for breast cancer.

18.
Porto Biomed J ; 5(3): e65, 2020.
Article in English | MEDLINE | ID: mdl-33299946

ABSTRACT

At diagnosis, approximately 50% of cases of adenocarcinoma of the pancreas are metastasized and 5-year survival is only 2.9%. We reported a case of a 63-year-old woman with pancreatic adenocarcinoma with multiple hepatic and intra-abdominal metastases that progressed on 2 lines of chemotherapy. She has been under treatment with third-line chemotherapy for 19 months with stable disease and excellent performance status. She has an overall survival of 29 months. There are just a few cases of metastatic disease with long survival described in the literature. The functional status and the good tolerance to treatment may be determinants of prognosis.

19.
BMC Res Notes ; 8: 216, 2015 Jun 04.
Article in English | MEDLINE | ID: mdl-26040452

ABSTRACT

BACKGROUND: An autoimmune disease is characterized by tissue damage, caused by self-reactivity of different effector mechanisms of the immune system, namely antibodies and T cells. All autoimmune diseases, to some extent, have implications for fertility and obstetrics. Currently, due to available treatments and specialised care for pregnant women with autoimmune disease, the prognosis for both mother and child has improved significantly. However these pregnancies are always high risk. The purpose of this study is to analyse the fertility/pregnancy process of women with systemic and organ-specific autoimmune diseases and assess pathological and treatment implications. METHODS: The authors performed an analysis of the clinical records and relevant obstetric history of five patients representing five distinct autoimmune pathological scenarios, selected from Autoimmune Disease Consultation at the Hospital of Braga, and reviewed the literature. RESULTS: The five clinical cases are the following: Case 1-28 years old with systemic lupus erythematosus, and clinical remission of the disease, under medication with hydroxychloroquine, prednisolone and acetylsalicylic acid, with incomplete miscarriage at 7 weeks of gestation without signs of thrombosis. Case 2-44 years old with history of two late miscarriages, a single preterm delivery (33 weeks) and multiple thrombotic events over the years, was diagnosed with antiphospholipid syndrome after acute myocardial infarction. Case 3-31 years old with polymyositis, treated with azathioprine for 3 years with complete remission of the disease, took the informed decision to get pregnant after medical consultation and full weaning from azathioprine, and gave birth to a healthy term new-born. Case 4-38 years old pregnant woman developed Behcet's syndrome during the final 15 weeks of gestation and with disease exacerbation after delivery. Case 5-36 years old with autoimmune thyroiditis diagnosed during her first pregnancy, with difficult control over the thyroid function over the years and first trimester miscarriage, suffered a second miscarriage despite clinical stability and antibody regression. CONCLUSIONS: As described in literature, the authors found a strong association between autoimmune disease and obstetric complications, especially with systemic lupus erythematosus, antiphospholipid syndrome and autoimmune thyroiditis.


Subject(s)
Autoimmune Diseases/immunology , Autoimmunity , Pregnancy Complications/immunology , Abortion, Spontaneous/immunology , Adult , Antiphospholipid Syndrome/immunology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/drug therapy , Autoimmunity/drug effects , Disease Progression , Female , Gestational Age , Humans , Immunosuppressive Agents/therapeutic use , Live Birth , Lupus Erythematosus, Systemic/immunology , Portugal , Pregnancy , Pregnancy Complications/diagnosis , Pregnancy Complications/drug therapy , Remission Induction , Risk Factors , Thyroiditis, Autoimmune/immunology , Treatment Outcome
20.
Surg. cosmet. dermatol. (Impr.) ; 1(3): 125-129, Jul.-Set. 2009. ilus., tab.
Article in English, Portuguese | LILACS | ID: biblio-884408

ABSTRACT

Introdução: A Terapia Fotodinâmica (TFD) utilizando Luz Intensa Pulsada (LIP) e ácido 5-aminolevulínico (ALA) é descrita como uma nova opção no tratamento da pele fotodanificada com ceratoses actínicas CAs).Objetivo: Determinar a efi cácia a longo prazo do tratamento das CAs utilizando a associação ALA-LIP e comparar o tratamento do fotoenvelhecimento utilizando ALA-LIP e LIP isolada. Materiais e métodos: Nove pacientes com pele foto danificada foram submetidos, com um mês de intervalo, a duas sessões de ALA-LIP em uma hemiface e de LIP isolado na região contralateral. Foi feito acompanhamento por 12 meses. Os pacientes foram avaliados clinicamente e através de fotografi as. Resultados: O desaparecimento das ceratoses actínicas foi observado na área tratada com ALA-LIP (62,9%), ao terceiro mês de tratamento. Foi observada recorrência em 70,6% dessas lesões após 12 meses. Houve melhora das melanoses, telangiectasias e rugas em ambos os lados, com maior evidência no lado tratado com ALA-LIP. Conclusão: A associação de ALALIP promove melhora global da pele fotodanificada, incluindo o tratamento das ceratoses actínicas, não ocorrendo sem a associação do ALA. É necessário o acompanhamento a longo prazo da taxa de cura das ceratoses para avaliação da eficácia do tratamento.


Introduction: Intense pulsed light (IPL) is an option in the treatment of photoaging. When combined with photodynamic therapy (PDT), using 5-aminolevulinic acid (ALA), it has become a tool of great interest in the treatment of photodamaged skin with actinic keratoses (AKs). Objective: Determine the long-term effi cacy of the treatment of photodamaged skin with actinic keratoses using the combination ALA-IPL, and compare the treatment of photodamaged skin using ALA-IPL and IPL alone. Material and methods: Nine patients with photodamaged skin underwent two sessions, with a month interval, of ALA-IPL on one hemiface and IPL alone on the contralateral side of the face. Follow-up lasted 12 months. Results: AK lesions clearance was observed only on the area treated with 5-ALA+IPL (62,9%) after 3 months of follow up. Recurrence of the improved lesions (70,6%) was observed in 12 month follow up. Improvement of melanoses, telangiectasia and wrinkles were observed on both sides, but more evident on the side treated with 5-ALA+IPL. Conclusion: The association of ALA-IPL treatment improves overall photodamaged skin, including the treatment of actinic keratoses, which does not occur without the association of ALA. Long term follow-up of keratoses healing rate is necessary to evaluate the treatment effi cacy.

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