Neurilemmoma of the oral cavity in pediatric patient

Neurilemmomas arising from Schwann cells, rarely found in oral cavity, are characterized by solitary occurrence, slow growth and smooth surface with variable clinical aspects, depending on the nerve origin. Most instances are typically asymptomatic. Microscopically, the histopathological characteristic consists of alternating regions of hypercellularity and hypocellularity such as Antoni A and Antoni B, respectively. The prognosis is favorable; complete surgical removal is the treatment of choice, no recurrence should be expected. The present report shows the case of neurilemmoma in bucal mucosa, in a 9-year-old child. Patient was referred to the Stomatology Clinic of School of Dentistry, Universidade Federal do Rio Grande do Norte, with complaint of nodular mass, with approximately one year development. Patient was submitted to excisional biopsy, with histopathological exam showing diagnosis of neurilemmoma. After 1 year follow-up there has been no recurrence of lesion.

Description of manganese deposits from the Oriente province in Cuba

Deposits of manganese ore have been found in five of the six provinces of Cuba and have been reported from the sixth. Only Oriente and Pinar del Rio provinces have more than a few known deposits and only the deposits of Oriente have yielded any appreciable amount of ore. In this area the Cobre formation, of late Cretaceous(?) to middle Eocene age, overlies the Vinent formation but their stratigraphie relations are unknown. The Cobre overlies unconformably the Habana(?) formation. The Cobre formation consists of andesitic, basaltic, and dacitic tuff, agglomerate, and lavas with minor amounts of marine clastic and limestone deposits, and a prominent limestone bed, the Charco Redondo limestone member, at the top of the formation. All productive manganese deposits of Oriente are in the Cobre formation, usually within a few tens of meters above or below the base of the Charco Redondo limestone member.

Síndrome de Cogan: achados oculares em um caso da forma atípica

A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

Repercusiones xoonóticas de la "Dirofilaria immitis" en las Islas Canarias

Programa de doctorado: Clínica e investigación terapéutica. La fecha de publicación es la fecha de de lectura.

Dermoscopic variability of basal cell carcinoma according to clinical type and anatomic location

Background Correctly diagnosing basal cell carcinoma (BCC) clinical type is crucial for the therapeutic management. A systematic description of the variability of all reported BCC dermoscopic features according to clinical type and anatomic location is lacking. Objectives To describe the dermoscopic variability of BCC according to clinical type and anatomic location and to test the hypothesis of a clinical/dermoscopic continuum across superficial BCCs (sBCCs) with increasing palpability. Methods Clinical/dermoscopic images of nodular BCCs (nBCCs) and sBCCs with different degrees of palpability were retrospectively evaluated for the presence of dermoscopic criteria including degree of pigmentation, BCC-associated patterns, diverse vascular patterns, melanocytic patterns and polarized light patterns. Results We examined 501 histopathologically proven BCCs (66.9% sBCCs; 33.1% nBCCs), mainly located on trunk (46.7%; mostly sBCCs) and face (30.5%; mostly nBCCs). Short fine telangiectasias, leaf-like areas, spoke-wheel areas, small erosions and concentric structures were significantly associated with sBCC, whereas arborizing telangiectasias, blue-white veil-like structures, white shiny areas and rainbow pattern with nBCCs. Short fine telangiectasia, spoke-wheel areas and small erosions were independently associated with trunk location, whereas arborizing telangiectasias with facial location. Scalp BCCs had significantly more pigmentation and melanocytic criteria than BCCs located elsewhere. Multiple clinical/dermoscopic parameters displayed a significant linear trend across increasingly palpable sBCCs. Conclusions Particular dermoscopic criteria are independently associated with clinical type and anatomic location of BCC. Heavily pigmented, scalp BCCs are the most challenging to diagnose. A clinical/dermoscopic continuum across increasingly palpable sBCCs was detected and could be potentially important for the non-surgical management of the disease.

Retrocaval mass in patient with von Recklinghausen disease. Case report

Type I Neurofibromatosis (NF1) is an autosomal-dominant inheritable disorder, with an incidence of 1:3,000, and a prevalence of 1:4,000 to 5,000. Pathogenesis is based on mutations of the NF1 gene, a tumor suppressor gene encoding a cytoplasmic protein named neurofibromin that controls cellular proliferation. Patients affected by NF1 typically present with cutaneous neurofibromas, cafè au lait spots and eye involvement, but they can also be affected by various visceral tumors, such as neurofibromas (nodular or plexiform type), gastrointestinal stromal tumors or endocrine tumors, such as pheochromocytomas. Visceral neurofibromas are often asymptomatic but when growing in size they may present with pain, palpable abdominal mass, symptoms secondary to bowel obstruction or main vessels compression, and even gastrointestinal bleeding when mucosa or submucosa are involved. In these cases surgery becomes mandatory in order to remove all neoplastic tissue. The Authors describe a case of a young man affected by NF1 with associated retrocaval abdominal mass with compression and displacement of the inferior vena cava, thus requiring a complex surgical procedure.

Surgical strategy for the treatment of sporadic medullary thyroid carcinoma: our experience

Background. Medullary thyroid carcinoma (MTC) is a rare disease which accounts for approximately 5-9% of all thyroid cancers and originates from the calcitonin-secerning parafollicular C cells. MTC can be divided into two subgroups: sporadic (75%) or inherited (25%). The majority of patients with invasive MTC have metastasis to regional lymph nodes at the time of diagnosis, as evidenced by the frequent finding of persistently elevated calcitonin levels after thyroidectomy and the high rates of recurrence in the cervical lymph nodes reported in retrospective studies. Objectives. The purpose of the study is to review our single institution's experience with MTC since 1998 and to evaluate surgical strategy, patterns of lymph node metastases and calcitonin response to compartment-oriented lymphadenectomy in patients with primary or recurrent sporadic medullary thyroid carcinoma. Methods. A retrospective review of 26 patients treated for MTC at the “Antonio Cardarelli” Hospital referral center, in Naples, between 1998 and 2012. There were 18 female and 8 male patients, median age at presentation was 55 years, and median follow-up for survivors was 5 years. Total thyroidectomy was performed in all 26 patients; central compartment (CC) node dissection (level VI) in 12 (46%) patients; central plus lateral compartment (LC) node dissection (levels II, III, and IV) in 7 (27%) patients. 4 patients (15%) underwent reoperation for loco-regional recurrent/persistent MTC. Results. After a median post-surgical follow-up of 5 years (range 1-10 years), 63 % of patients were living disease-free, 15% were living with disease and/or persistently elevated calcitonin levels after surgery, 11% were deceased due to MTC and 11 % were lost to follow-up. Conclusions. We agree with most authors advocating for a total thyroidectomy and prophylactic central neck dissection in the setting of clinically detected MTC. Lateral neck dissection may be best reserved for patients with positive preoperative imaging. Nevertheless MTC has a high rate of lymph node metastases that are sub optimally detected preoperatively in the central compartment by neck ultrasound or intra-operatively by the surgeon, and reoperation is associated with a higher rate of surgical complications. In our limited experience, patients with thyroid confined nodular pathology, without nodal disease and unknown preoperative diagnosis of MTC, underwent only total thyroidectomy with a good prognosis.

Actual status of preoperative diagnosis of thyroid cancer in Albania

Introduction. Thyroid cancer is the most common endocrine malignancy and accounts for almost 1% of human cancer. It is well known that the majority of cases occur in women in the middle decades of life. Thyroid cancer is a relatively rare disease; on the other hand clinically apparent thyroid nodules are present in 4-7% of the adult population. Most thyroid nodules are not malignant, with reported malignancy rates from 3-12%. It is important for the surgeon to know beforehand the diagnosis of malignancy, in order to perform a more radical operation on the thyroid gland. Patients and Methods. In our study we have analyzed the preoperative clinical data of 84 patients operated in the First Clinic of General Surgery, UHC “Mother Theresa” in Tirana; all with a positive histopathologic diagnosis of thyroid cancer. The data comprised age, sex, age distribution, blood group, time-lapse from the first endocrinologic visit, clinical examination, signs and symptoms, imaging, functional tests, preoperative FNA, admission diagnosis, associated diseases and preoperative treatment. Results. From the study emerged that only 9,3% of these patients were diagnosed preoperatively as thyroid cancer. Another related problem is the low percentage of preoperative FNA – only 22%. Among the signs and symptoms related to thyroid cancer we found that 40 and 33% of these patient presented dyspnea and dysphagia, respectively. The physical examination revealed apparent nodular growth of the thyroid gland in 81% and nodular hard consistency in 79% of cases. The proper endocrinologist consultation lacked in 23% of cases. Conclusion. In our opinion, close collaboration between endocrinologists and surgeons in a multidisciplinary frame is the key to correct preoperative thyroid cancer diagnosis and optimal treatment.

Síndrome de Cogan: achados oculares em um caso da forma atípica

A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

Sialadenoma Papilliferum with Inverted Pattern in a Young Patient: A Case Report

BACKGROUND: Sialadenoma papilliferum (SP) is a rare, benign neoplasm of salivary gland origin which manifests as an exophytic papillary excrescence of the mucosa. Indeed, SP is both an exophytic proliferation of papillary stratified squamous epithelium above the mucosal surface and an endophytic salivary ductal proliferation beneath the mucosa. It arises predominantly in minor salivary glands and usually affects patients in the age range of 32-87 years, with reports in young patients being exceedingly rare.

Um caso pediátrico de tuberculose miliar: achados raros e evolução atípica

Introdução: A tuberculose miliar resulta da disseminação linfohematogénica do Mycobacterium tuberculosis, sendo uma manifestação grave da infeção. Caso clínico: Criança de 9 anos, género feminino, com his¬tória de febre prolongada. O diagnóstico de tuberculose miliar foi colocado após telerradiografia torácica com infiltrado reticu¬lonodular difuso bilateral, e corroborado pelo achado de tubér¬culos coroideus no olho direito e visualização de bacilos álcool¬ ¬ácido resistentes em amostra de suco gástrico. Detetaram¬-se tuberculomas cerebrais na ressonância magnética. Isolou¬se Mycobacterium tuberculosis multissensível em amostras de suco gástrico. Após mais de 40 dias de tratamento, persistia a febre e baciloscopia positiva. Foi excluída infeção pelo vírus da imunodeficiência humana. Não foram detetadas complicações. Posteriormente, a evolução clínica foi favorável. Discussão/Conclusão: A tuberculose mantém-¬se um diag¬nóstico relevante na criança com febre prolongada. A associa¬ção da imagem torácica, baciloscopias positivas e tubérculos coroideus foram fundamentais para a celeridade do diagnóstico e implementação do tratamento. Reforça¬-se a importância de manter elevado índice de suspeição para uma patologia que tem tratamento.

Sequence stratigraphy and sea-level history of Kangan formation in south pars field

Dehram group includes Faraghan, Dalan and Kangan formations. Kangan formation ages lower terias. That is one of the important reservoir rocks of southern Iran and Persian Gulf. In this research Kangan formation is studied in two A and B wells. Based on 75 studies on thin section, four carbonate litho acies association A, B, C, D with 12 subfacies are identified. A lithofacies association includes 4 subfacies: A1, A2, A3 and A4. B lithofacies association consists of 3 subfacies: B1, B2 and B3. C lithofacies association consists of 3 subfacies: C1, C2, C3 and D lithofacies association includes 2 subfacies: D1 and D2. On the base of studies lithofacies association of Kangan formations are formed in 3 environments of: Tidal Flat, Lagoon and Barrier Shore Complex in a Carbonated Platform Ramp type. Diagenetic processes have effected this formation. The most important Diagenetic processes are: Cementation, Anhydritization, Micrization, Neomorphism, Bioturbation, Dissolution, Compaction, Dolomitization and Porosity. Sequence staratigraphy studies were performed base on the vertical and horizontal relationship of lithofacies association and well logging in gamma ray and sonic type that causes the identification of two sedimentary sequences: First sedimentary sequence includes: Transgressive System Tract (TST) and High Stand System Tract (HST). The lower boundary of this sequence is in Sequence Boundary 1 (SB1) which shows unconformities of Dalan and Kangan that are Permian-terias unconformities. The upper boundary is in Sequence Boundary 2 (SB2) type that is identified by carbonate facies associated by anhydrite nodular. Second sedimentary sequence includes: TST and HST. Lower and upper boundaries of these sequences are both in SB2 type. The lower and upper boundary is made of carbonate facies with anhydrite nodular.

Uterine sarcomas: clinical presentation and MRI features

Uterine sarcomas are a rare heterogeneous group of tumors of mesenchymal origin, accounting for approximately 8% of uterine malignancies. They comprise leiomyosarcoma, endometrial stromal sarcoma, undifferentiated endometrial sarcoma, and adenosarcoma. Compared with the more common endometrial carcinomas, uterine sarcomas behave more aggressively and are associated with a poorer prognosis. Due to their distinct clinical and biological behavior, the International Federation of Gynecology and Obstetrics introduced a new staging system for uterine sarcomas in 2009, categorizing uterine carcinosarcoma as a variant of endometrial carcinoma, rather than a pure sarcoma. Magnetic resonance imaging (MRI) has a developing role in the assessment of these malignancies. Features such as tumor localization, irregular or nodular margins, necrosis, rapid growth, intense contrast enhancement, and restriction at diffusion-weighted imaging can suggest the diagnosis and help differentiate from more common leiomyomas and endometrial carcinoma. MRI is therefore extremely useful in preoperative detection and staging and, consequently, in determination of appropriate management. This pictorial review aims to discuss the clinical features of uterine sarcomas, as well as their most common appearances and distinct characteristics in MRI.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment.

“Barnabé e sua aventura”: um projeto de educação para a saúde em disfonia infantil

"Os nódulos vocais, associados etiologicamente a um comportamento disfuncional de mau uso e abuso vocal, são os principais responsáveis pela disfonia crônica em crianças de ambos os gêneros. A disfonia infantil pode influenciar a sedimentação das relações sociais da criança disfônica e conduzir a processos de estigmatização e constrangimento por parte de seus pares. O presente instrumento de Educação para a Saúde tem como principal objetivo consciencializar a criança disfônica para o uso correto da sua voz, diminuindo o impacto biopsicossocial inerente à patologia vocal. Este instrumento, destinado essencialmente a crianças de ambos os sexos entre os sete e os nove anos de idade, e simultaneamente aos seus pais e professores/educadores de infância, consiste num livro de literatura infantil que aborda a problemática da voz e da patologia nodular infantil, tendo sido concretizado em dois formatos: impresso em formato A5 e em formato digital, com narração áudio incluída. O instrumento elaborado, ideal para a população-alvo pré-definida, consiste num excelente veículo de consciencialização da importância da voz e da promoção de hábitos vocais salutogênicos, podendo ser usado em diversos contextos de vida da criança (terapêutico, familiar e escolar)."