Serum long-noncoding RNA H19 and beta-catenin as biomarkers for early diagnosis of colorectal cancer in egyptian patients: a case control study

Colorectal cancer (CRC) is the third most prevalent cancer and the second most common cause of cancer death; however, its early detection can improve the survival. Colonic polyps are considered one of the CRC's major risk factors. Throughout many biological processes and malignancies, the non-coding RNAs have essential functions. Certain long noncoding RNAs (lncRNAs), including H19, were supposed to be CRC possible biomarkers. Also, H19 has been reported to play a role in regulating the activity of beta-catenin, a protein that regulates cell-to-cell adhesion, as well as gene transcription. The current work aimed to investigate the potential significance of LncRNA H19 relative serum expression level by quantitative polymerase chain reaction (q-PCR) and beta-catenin by enzyme-linked immunosorbent assay (ELISA) as noninvasive biomarkers to discriminate between colorectal cancer and colonic polyps. The statistical analysis of the studied factors revealed that the serum expression of H19 and beta-catenin in cancer cases were substantially greater than colonic polyp cases and normal control. Conclusion: The relative expressions of H19 and beta-catenin in the serum can significantly discriminate patients with CRC from those with polyp and normal controls, which could help when screening for CRC. (AU)

Therapeutic options in idiopathic burning mouth syndrome: literature review.

Introduction Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders. Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years. Data Synthesis We conducted a literature review on PubMed/MEDLINE, SciELO, and Cochrane-BIREME of work in the past 15 years, and only selected studies comparing different therapeutic options in idiopathic BMS, with preference for randomized and double-blind controlled studies. Final Comments Topical clonazepam showed good short-term results for the relief of pain, although this was not presented as a definitive cure. Similarly, α-lipoic acid showed good results, but there are few randomized controlled studies that showed the long-term results and complete remission of symptoms. On the other hand, cognitive therapy is reported as a good and lasting therapeutic option with the advantage of not having side effects, and it can be combined with pharmacologic therapy.

Therapeutic Options in Idiopathic Burning Mouth Syndrome: Literature Review

Introduction Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders. Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years. Data Synthesis We conducted a literature review on PubMed/MEDLINE, SciELO, and Cochrane-BIREME of work in the past 15 years, and only selected studies comparing different therapeutic options in idiopathic BMS, with preference for randomized and double-blind controlled studies. Final Comments Topical clonazepam showed good short-term results for the relief of pain, although this was not presented as a definitive cure. Similarly, α-lipoic acid showed good results, but there are few randomized controlled studies that showed the longterm results and complete remission of symptoms. On the other hand, cognitive therapy is reported as a good and lasting therapeutic option with the advantage of not having side effects, and it can be combined with pharmacologic therapy. .

Large thyroid cyst in a patient with congenital hypothyroidism / Grande cisto tiroidiano em paciente com hipotireoidismo congênito

Thyroid hormone biosynthetic defects are rare causes of congenital hypothyroidism. Although, initial presentations are usually diffuse goiter and hypothyroidism, subsequently they may develop thyroid nodules and or thyroid cancer. We describe a case of hypothyroidism due to dyshormonogenesis whose one of the previously solid nodules degenerates into a large cyst. A 22-year-old male was referred to our clinic for evaluation of enlarging thyroid nodule. Hypothyroidism was diagnosed in infancy, however due to poor compliance to treatment TSH values were elevated most of the times. When he was fifteen the first nodule was detected which was a solid cold nodule. Fine needle aspiration was in favor of benign follicular nodule. Seven years later we found a large multi nodular thyroid with a predominant large cyst corresponding to the previously detected solid nodule. 21cc straw colored fluid was aspirated. Cytology was reported as benign cystic nodule. The patient underwent thyroidectomy and pathology confirmed a benign thyroid cyst. Although underreported thyroid dyshormonogenesis may progress to cystic degeneration. Taking into account the risk of malignancy and eventually cyst formation, we recommend more frequent evaluation in the face of nodule formation in these patients. Arq Bras Endocrinol Metab. 2014;58(9):958-61.

Os defeitos de biossíntese do hormônio tiroidiano são causas raras de hipotireoidismo congênito. Embora as apresentações iniciais sejam geralmente bócio difuso e hipotireoidismo, nódulos tiroidianos ou câncer de tiroide podem se desenvolver subsequentemente. Descrevemos aqui um caso de hipotireoidismo causado por disormonogênese e no qual um dos nódulos sólidos degenerou em um grande cisto. Um homem de 22 anos de idade foi encaminhado para nossa clínica para avaliação do aumento de um nódulo tiroidiano. O hipotireoidismo foi diagnosticado na infância. Entretanto, em razão da baixa conformidade ao tratamento, os valores de TSH estavam elevados na maior parte do tempo. Quando o paciente tinha 15 anos de idade, um primeiro nódulo sólido e frio foi detectado. A aspiração por agulha fina mostrou um nódulo folicular benigno. Sete anos depois encontramos múltiplos nódulos na tiroide e um grande cisto predominante que correspondia ao nódulo sólido anteriormente detectado. Foram aspirados 21cc de fluido cor de palha. A citologia mostrou um nódulo cístico benigno. O paciente foi submetido à tiroidectomia e o exame histopatológico confirmou um cisto tiroidiano benigno. Embora não seja comumente relatada, a disormonogênese da tiroide pode progredir para a degeneração cística. Ao serem considerados o risco de malignidade e a eventual formação de cistos, recomendamos uma avaliação mais frequente da formação de nódulos nesses pacientes. Arq Bras Endocrinol Metab. 2014;58(9):958-61.

Large thyroid cyst in a patient with congenital hypothyroidism.

Thyroid hormone biosynthetic defects are rare causes of congenital hypothyroidism. Although, initial presentations are usually diffuse goiter and hypothyroidism, subsequently they may develop thyroid nodules and or thyroid cancer. We describe a case of hypothyroidism due to dyshormonogenesis whose one of the previously solid nodules degenerates into a large cyst. A 22-year-old male was referred to our clinic for evaluation of enlarging thyroid nodule. Hypothyroidism was diagnosed in infancy, however due to poor compliance to treatment TSH values were elevated most of the times. When he was fifteen the first nodule was detected which was a solid cold nodule. Fine needle aspiration was in favor of benign follicular nodule. Seven years later we found a large multi nodular thyroid with a predominant large cyst corresponding to the previously detected solid nodule. 21cc straw colored fluid was aspirated. Cytology was reported as benign cystic nodule. The patient underwent thyroidectomy and pathology confirmed a benign thyroid cyst. Although underreported thyroid dyshormonogenesis may progress to cystic degeneration. Taking into account the risk of malignancy and eventually cyst formation, we recommend more frequent evaluation in the face of nodule formation in these patients.

Bullous Systemic Lupus Erythematosus: case report

Bullous systemic lupus erythematosus (BSLE) is an autoantibody-mediated disease with subepidermal blisters. It is a rare form of presentation of SLE that occurs in less than 5% of cases of lupus. CASE REPORT: A 27-year-old, female, FRS patient reported the appearance of painful bullous lesions in the left nasal wing and left buccal mucosa that displayed sudden and rapid growth. She sought advice from emergency dermatology staff 15 days after onset and was hospitalized with suspected bullous disease. Intravenous antibiotics and steroids were administered initially, but the patient showed no improvement during hospitalization. She displayed further extensive injuries to the trunk, axillae, and vulva as well as disruption of the bullous lesions, which remained as hyperemic scars. Incisional biopsy of a lesion in the left buccal mucosa was performed, and pathological results indicated mucositis with extensive erosion and the presence of a predominantly neutrophilic infiltrate with degeneration of basal cells and apoptotic keratinocytes. Under direct immunofluorescence, the skin showed anti-IgA, anti-IgM, and anti-IgG linear fluorescence on the continuous dermal side of the cleavage. Indirect immunofluorescence of the skin showed conjugated anti-IgA, was anti-IgM negative, and displayed pemphigus in conjunction with anti-IgG fluorescence in the nucleus of keratinocytes, consistent with a diagnosis of bullous lupus erythematosus. DISCUSSION: BSLE is an acquired autoimmune bullous disease caused by autoantibodies against type VII collagen or other components of the junctional zone, epidermis, and dermis. It must be differentiated from the secondary bubbles and vacuolar degeneration of the basement membrane that may occur in acute and subacute cutaneous lupus erythematosus...

Bullous Systemic Lupus Erythematosus: Case report.

INTRODUCTION: Bullous systemic lupus erythematosus (BSLE) is an autoantibody-mediated disease with subepidermal blisters. It is a rare form of presentation of SLE that occurs in less than 5% of cases of lupus. CASE REPORT: A 27-year-old, female, FRS patient reported the appearance of painful bullous lesions in the left nasal wing and left buccal mucosa that displayed sudden and rapid growth. She sought advice from emergency dermatology staff 15 days after onset and was hospitalized with suspected bullous disease. Intravenous antibiotics and steroids were administered initially, but the patient showed no improvement during hospitalization. She displayed further extensive injuries to the trunk, axillae, and vulva as well as disruption of the bullous lesions, which remained as hyperemic scars. Incisional biopsy of a lesion in the left buccal mucosa was performed, and pathological results indicated mucositis with extensive erosion and the presence of a predominantly neutrophilic infiltrate with degeneration of basal cells and apoptotic keratinocytes. Under direct immunofluorescence, the skin showed anti-IgA, anti-IgM, and anti-IgG linear fluorescence on the continuous dermal side of the cleavage. Indirect immunofluorescence of the skin showed conjugated anti-IgA, was anti-IgM negative, and displayed pemphigus in conjunction with anti-IgG fluorescence in the nucleus of keratinocytes, consistent with a diagnosis of bullous lupus erythematosus. DISCUSSION: BSLE is an acquired autoimmune bullous disease caused by autoantibodies against type VII collagen or other components of the junctional zone, epidermis, and dermis. It must be differentiated from the secondary bubbles and vacuolar degeneration of the basement membrane that may occur in acute and subacute cutaneous lupus erythematosus.

Laryngeal manifestations in atypical recurrent aphthous stomatitis.

UNLABELLED: Recurrent aphthoid stomatitis is characteristically observed in children and adolescents in the form of painful relapsing ulcers in the oral mucosa unaccompanied by evidences of systemic disease. The ulcers appear every one or two weeks for at least one entire year. Some patients suspected for recurrent aphthoid stomatitis develop lesions in atypical sites - mainly in the larynx - concurrently to the ones found in the oral mucosa. AIM: this study aims to describe a series of recurrent aphthoid stomatitis patients with atypical laryngeal injuries. STUDY DESIGN: this is a case series study. MATERIALS AND METHOD: patients diagnosed with recurrent aphthoid stomatitis with oral mucosa ulcers and laryngeal symptoms without altered lab test results and no evidence of systemic disease underwent fibroscopic examination, oral and laryngeal biopsies, followed by specimen evaluation by direct immunofluorescence. RESULTS: all six patients in this series had acute and chronic inflammatory processes according to pathology studies and negative direct immunofluorescence test results. CONCLUSION: laryngeal involvement in recurrent aphthoid stomatitis is rare. Therefore, during diagnostic examination thorough clinical history and meticulous physical examination accompanied by fibroscopic examination are necessary. When atypical lesions are found, biopsies for histological evaluation and direct immunofluorescence tests are required.

Laryngeal manifestations in atypical recurrent aphthous stomatitis / Manifestações laríngeas da Estomatite Aftoide Recorrente Atípica

Recurrent aphthoid stomatitis is characteristically observed in children and adolescents in the form of painful relapsing ulcers in the oral mucosa unaccompanied by evidences of systemic disease. The ulcers appear every one or two weeks for at least one entire year. Some patients suspected for recurrent aphthoid stomatitis develop lesions in atypical sites - mainly in the larynx - concurrently to the ones found in the oral mucosa. AIM: this study aims to describe a series of recurrent aphthoid stomatitis patients with atypical laryngeal injuries. Study design: this is a case series study. MATERIALS AND METHOD: patients diagnosed with recurrent aphthoid stomatitis with oral mucosa ulcers and laryngeal symptoms without altered lab test results and no evidence of systemic disease underwent fibroscopic examination, oral and laryngeal biopsies, followed by specimen evaluation by direct immunofluorescence. RESULTS: all six patients in this series had acute and chronic inflammatory processes according to pathology studies and negative direct immunofluorescence test results. CONCLUSION: laryngeal involvement in recurrent aphthoid stomatitis is rare. Therefore, during diagnostic examination thorough clinical history and meticulous physical examination accompanied by fibroscopic examination are necessary. When atypical lesions are found, biopsies for histological evaluation and direct immunofluorescence tests are required.

A Estomatite Aftoide Recorrente é definida como úlceras recorrentes e dolorosas na mucosa oral, de aparecimento na infância e adolescência, sem evidências de doenças sistêmicas, presentes quinzenal ou mensalmente por um período mínimo de um ano. No entanto existem quadros sugestivos de Estomatite Aftoide Recorrente que mostram lesões em localizações atípicas, principalmente em laringe, concomitantes àquelas localizadas na mucosa oral. OBJETIVO: Descrever uma série de portadores de Estomatite Aftoide Recorrente com apresentação atípica em laringe. Forma do Estudo: Estudo de uma série de casos. MÉTODO: Pacientes com diagnóstico clínico de Estomatite Aftoide Recorrente, com lesões em mucosa oral e sintomas laríngeos, sem alterações nos exames laboratoriais e sem evidências de doenças sistêmicas, foram submetidos a exame fibroscópico e a biópsia oral e laríngea, complementadas com Imunofluorescência Direta. RESULTADOS: Todos os seis pacientes desta série apresentaram como resultados histopatológicos processo inflamatório agudo e crônico e Imunofluorescência Direta negativas. CONCLUSÃO: O acometimento laríngeo na Estomatite Aftoide Recorrente é raro, por isso durante o diagnóstico faz-se necessária uma boa história clínica e um adequado exame físico, incluindo os exames fibroscópicos. Diante de lesões atípicas, faz-se necessário uso de biópsia para estudo histológico e de Imunofluorescência Direta.