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3.
Autops. Case Rep ; 9(4): e2019107, Oct.-Dec. 2019.
Article in English | LILACS | ID: biblio-1023992
4.
Autops. Case Rep ; 9(4): e2019121, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024063

ABSTRACT

Plasminogen activator inhibitor-1 (PAI-1) is a biomarker of thrombosis. Adipose and vascular tissues are among the major sources of PAI-1 production. Previous studies indicated that fat deposits mediate increased cardiovascular risk among obese individuals. We investigated the immunohistochemical (IHC) expression of PAI-1 in adipose and vascular tissues from the omentum and the subcutaneous tissue. The pathology samples were selected from 37 random patients who underwent elective abdominal surgery between 2008-2009. PAI-1 expression was semi-quantitatively scored and compared between the groups. Significant differences were noted in the IHC expression of PAI-1 between the omental and the subcutaneous adipose tissues (1.1 ± 0.8 versus 0.8 ± 0.6, respectively (p=0.05)). Adipose tissue displayed higher IHC expression of PAI-1 compared to vascular wall tissue in both omentum and subcutaneous sections (1.1 ± 0.8 versus 0.5 ± 0.9 (p=0.004), and 0.8 ± 0.6 versus 0.4 ± 0.6 (p=0.003), respectively). In conclusion, our study compared PAI-1 expression in the omentum versus the subcutaneous tissue and adipose versus vascular tissues. IHC expression of PAI-1 level was significantly higher in the omental adipose tissue compared to the subcutaneous adipose tissue. Adipose tissue displayed significantly higher PAI-1 expression than vascular tissue. The study elucidates the biological differences of adipose and vascular tissue from subcutaneous versus omental sections.


Subject(s)
Humans , Plasminogen Activator Inhibitor 1/analysis , Immunohistochemistry , Adipose Tissue , Abdominal Fat/surgery
5.
Autops. Case Rep ; 9(4): e2019113, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024144

ABSTRACT

Hypertrophic cardiomyopathy used to be regarded as a rare untreatable cause of sudden death in young male athletes. This report is the case of a middle-aged female patient with hereditary hypertrophic cardiomyopathy masked by superimposed pericarditis and revealed by autopsy. This case report illustrates how co-morbidity can hide a crucial diagnosis. This case report also illustrates the value of autopsy disclosing a familial disease that is increasingly recognized and dramatically more treatable than a few decades ago. Sudden death due to hypertrophic cardiomyopathy has become preventable, if the diagnosis is made soon enough. The lessons for patient care from this case include the importance of not missing the diagnosis of hypertrophic cardiomyopathy in female patients.


Subject(s)
Humans , Female , Adult , Cardiomyopathy, Hypertrophic, Familial/pathology , Delayed Diagnosis/prevention & control , Pericarditis/pathology , Autopsy , Death, Sudden, Cardiac/etiology , Fatal Outcome
6.
Autops. Case Rep ; 9(4): e2019119, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024159

ABSTRACT

Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. This entity is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. The etiology is unknown, but a relationship with the disruption of the TBX4-FGF10 pathway has been described. There are no definitive antenatal diagnostic tests. It is a diagnosis of exclusion from other diffuse embryologic lung abnormalities with identical clinical presentations that are, however, histopathologically distinct.


Subject(s)
Humans , Female , Infant, Newborn , Respiratory Insufficiency/etiology , Lung/abnormalities , Lung Diseases/congenital , Autopsy , Fatal Outcome , Lung/pathology
7.
Odontoestomatol ; 21(34): 57-64, Jul-Dic. 2019.
Article in Spanish | LILACS, InstitutionalDB | ID: biblio-1025100

ABSTRACT

Paciente de sexo femenino de 13 años de edad que acudió al servicio de Odontopediatría del Instituto de Salud Oral del Hospital Central de la Fuerza Aérea de Perú en el mes de setiembre del año 2018 debido a una renovación en la prótesis parcial provisional que utilizaba desde hace cinco meses. Al examen clínico extraoral se evidenció lesiones cicatrizales en la piel de la región nasal; durante la evaluación intraoral se evidenció la pérdida de múltiples dientes, rebordes edéntulos amplios y delgados, alteraciones en la morfología dentaria, así como discordancia de la erupción dentaria con la edad de la paciente. Al examen radiográfico se evidenció alteración y retardo en la erupción dentaria, impactación de un diente en la mandíbula, falta de desarrollo radicular y persistencia de dientes temporales. El diagnóstico médico definitivo fue el Síndrome de Bloch ­ Sulzberger también denominado como "incontinencia pigmentaria". Este síndrome se caracteriza por presentar una variedad de manifestaciones orales como: agenesia dentaria, alteración en la morfología dentaria, dientes retenidos y/o impactados así como alteración y retraso en la erupción dentaria. A nivel sistémico este síndrome presenta lesiones que afectan a la piel, pelo, visión, sistema nervioso central, entre otros.


A 13-year-old female patient went to the pediatric dentistry service of the Oral Health Institute of the Central Air Force Hospital of Peru in September of 2018. She sought care to have her temporary partial prosthesis renewed. The extraoral clinical examination showed scar lesions on the skin of the nasal region; the intraoral evaluation showed the loss of multiple teeth, wide and thin edentulous ridges, alterations in dental morphology, as well as the inconsistency of the dental eruption with the patient's age. The radiographic examination showed alteration and delay in dental eruption, impaction of a tooth in the jaw, lack of root development and persistence of temporary teeth. The definitive medical diagnosis was BlochSulzberger Syndrome, also referred to as "pigmentary incontinence". This syndrome is characterized by presenting a variety of oral manifestations such as dental agenesis, alteration in dental morphology, retained and/or impacted teeth as well as alteration anddelay in dental eruption. At a systemic level, this syndrome has lesions that affect the skin, hair, vision, central nervous system, among others.


Paciente do sexo feminino, 13 anos, que compareceu ao Serviço de Odontopediatria do Instituto de Saúde Bucal do Hospital Central da Força Aérea do Peru, em setembro de 2018, devido à renovação da prótese parcial provisória utilizada por ela. por cinco meses. O exame clínico extraoral mostrou lesões cicatriciais na pele da região nasal; Durante a avaliação intraoral, a perda de múltiplos dentes, cristas edêntulas, extensas e finas, alterações na morfologia dentária, bem como a incongruência da erupção dentária com a idade do paciente foi evidente. O exame radiográfico mostrou alteração e atraso na erupção dentária, impactação de um dente na mandíbula, falta de desenvolvimento radicular e persistência de dentes temporários. O diagnóstico médico definitivo foi a síndrome de Bloch - Sulzberger, também conhecida como "incontinência pigmentar". A síndrome é caracterizada por apresentar uma variedade de manifestações bucais, como: agenesia dentária, alteração na morfologia dentária, retenção e / ou impacto dos dentes, bem como alteração e atraso na erupção dentária. Em nível sistêmico, essa síndrome apresenta lesões que afetam a pele, o cabelo, a visão, o sistema nervoso central, entre outros.


Subject(s)
Humans , Incontinentia Pigmenti , Oral Manifestations , Tooth Eruption , Anodontia
8.
Odontoestomatol ; 21(34): 74-77, Jul-Dic. 2019.
Article in Spanish | LILACS, InstitutionalDB | ID: biblio-1024968

ABSTRACT

La revisión por pares representa uno de los pilares más importantes sobre los que se sustentan las revistas científicas. Es un proceso complejo y riguroso realizado por expertos nacionales y/o extranjeros que permite la evaluación crítica de los manuscritos. En el área salud, este proceso toma una dimensión relevante sobretodo en la valoración de la credibilidad de los resultados de investigaciones y en la descripción de procedimientos y resolución de casos.


De avaliação pelos pares representa um dos pilares mais importantes no qual estão baseados os periódicos científicos de avaliação pelos pares. É um processo complexo e rigoroso conduzido por peritos nacionais ou estrangeiros, que permite uma avaliação crítica dos manuscritos. Na área da saúde, este processo leva acima de tudo uma dimensão relevante na avaliação da credibilidade dos resultados da pesquisa e na descrição de procedimentos e resolução de casos.


The peer-review process is one of the main pillars of scientific journals. It is a complex and rigorous activity conducted by national or foreign experts, which allows for a critical assessment of manuscripts. In the health area, this process becomes highly relevant, especially regarding assessing the credibility of the research results and the description of procedures and resolution of cases.


Subject(s)
Humans , Peer Review, Research , Periodicals as Topic
9.
Odontoestomatol ; 21(34): 65-73, Jul-Dic. 2019.
Article in Spanish | LILACS, InstitutionalDB | ID: biblio-1024972

ABSTRACT

El Odontopediatra juega un rol importante en la detección precoz de patologías orales en edades tempranas, debido que casi siempre es el primero que tiene contacto con el niño y cabe la posibilidad de ser el detector de lesiones en boca, como la lengua geográfica. Pero también es motivo de consulta de los padres, una lesión de color rojizo que aparece y desaparece, que los alarma. Es de suma importancia transmitir y tranquilizar a los padres de que se trata de una lesión benigna, que generalmente no requiere tratamiento 1. Este artículo tiene como objetivo la presentación de dos casos clínicos, con signos y síntomas diferentes para lo cual es de importancia conocer las características clínicas específicas de la lengua geográfica y el manejo clínico.


O Odontopediatra desempenha um papel importante na detecção precoce de patologias bucais em uma idade precoce, pois é quase sempre o primeiro a ter contato com a criança e é possível detectar lesões na boca, como a linguagem geográfica. Mas também é um motivo de consulta dos pais, uma lesão avermelhada que aparece e desaparece, o que os alarma. É muito importante transmitir e tranquilizar os pais de que é uma lesão benigna, que geralmente não requer tratamento (1). Este artigo tem como objetivo apresentar dois casos clínicos, com diferentes sinais e sintomas, para os quais é importante conhecer as características clínicas específicas da linguagem geográfica e do manejo clínico.


Pediatric dentists play a significant role in the early detection of oral pathologies at a young age because they are usually the first to have contact with the child. This enables them to detect mouth lesions, such as geographic tongue, which is a reddish lesion that appears and disappears and leads parents to seek professional help as they are alarmed. It is essential to reassure parents that it is a benign lesion, which generally does not require treatment 1. This article aims to present two clinical cases, with different signs and symptoms, for which it is important to know the specific clinical characteristics of the geographic tongue and clinical management.


Subject(s)
Child , Glossitis, Benign Migratory , Child , Dentists
10.
Autops. Case Rep ; 9(4): e2019124, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024178

ABSTRACT

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum.


Subject(s)
Humans , Female , Pregnancy , Congenital Disorders of Glycosylation/pathology , Walker-Warburg Syndrome/pathology , Hydrocephalus/pathology , Autopsy , Fatal Outcome
11.
Autops. Case Rep ; 9(4): e2019125, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024200

ABSTRACT

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.


Subject(s)
Humans , Female , Infant, Newborn , Rhabdomyoma/pathology , Tuberous Sclerosis/pathology , Heart Neoplasms , Autopsy , Fatal Outcome , Neurocutaneous Syndromes
12.
Autops. Case Rep ; 9(4): e2019112, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024207

ABSTRACT

Renal transplant patients are treated with immunosuppressive drugs that decrease the effectiveness of the immune system, making them more prone to developing cancer. Skin and lip carcinomas are common malignancies encountered after transplantation, whereas oral carcinomas are rare. We report the case of a 51-year-old female Caucasian patient, with no history of smoking, who presented white lesions on the tongue and an ulcerated lesion on the lower lip beginning 4 months prior. Diagnosis of squamous cell carcinoma for both lesions was made following incisional biopsies. Interestingly, the patient reported a renal transplantation 23 years prior, and was maintained on a combination of cyclosporine, mycophenolate sodium and prednisone. The patient also presented a history of several basal and squamous cell carcinomas on sun-exposed areas of the skin. Both lesions were surgically excised. No sign of recurrence or new lesions in the oral cavity have been observed; however, new skin lesions are frequently diagnosed. This case report highlights that oral cancers may occur in transplant patients in the absence of classical risk factors. Thus, clinicians must be aware of the importance of thorough oral examination in transplant patients in routine follow-up.


Subject(s)
Humans , Female , Middle Aged , Mouth Neoplasms/etiology , Mouth Neoplasms/pathology , Mouth Neoplasms/prevention & control , Carcinoma, Squamous Cell/pathology , Kidney Transplantation/adverse effects , Immunosuppressive Agents/adverse effects
13.
Autops. Case Rep ; 9(4): e2019117, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024240

ABSTRACT

Sporadic Burkitt lymphoma (SBL) is a variant of Burkitt lymphoma that occurs worldwide, affecting mainly children and young adults. Association with Epstein-Barr virus (EBV) can be identified in approximately 20-30% of cases. Herein we described a case of a 63-year-old male presenting intraoral bilateral mandibular swelling, subjacent to fixed dental prosthesis, with one month of duration. Incisional biopsies were performed, and after two days, the patient was hospitalized due to malaise and breathing difficulty, and died after a week when an abdominal tumor was detected. The mandibular biopsies revealed a diffuse proliferation of medium-sized monomorphic atypical lymphoid cells exhibiting numerous mitoses and areas of "starry-sky" pattern. The tumor showed immunohistochemical positivity for CD20, CD10, Bcl-6, and Ki-67 (≈ 100%); it was negative for CD3, Bcl-2, Vs38c, and MUM-1. Positivity for EBV was found by in situ hybridization. The final diagnosis was intraoral SBL positive for EBV. Clinical, morphological and molecular criteria are necessary for the correct diagnosis of aggressive B-cell neoplasms positive for EBV in elderly patients.


Subject(s)
Humans , Male , Middle Aged , Mouth Neoplasms/pathology , Burkitt Lymphoma/pathology , Herpesvirus 4, Human , Lymphoma, Non-Hodgkin/pathology
14.
Autops. Case Rep ; 9(4): e2019116, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024253

ABSTRACT

Basal cell carcinoma (BCC) is the most common skin cancer. It generally has an indolent course with low rates of metastasis and mortality. However, BCC is locally invasive and can cause significant morbidity due to destructive local spread. We report our experience with a patient who was referred to our skin cancer unit due to a previously neglected lesion on the parietal region of the scalp, which had developed for 7 years. The patient was prescribed vismodegib on the basis that surgery could cause excessive functional and aesthetic damage. The patient had an objective partial response after 20 months of treatment. He was then submitted to radical skin excision, leaving a large defect that was reconstructed using a free latissimus dorsi muscle flap. The patient recovered well, and at the 1-year follow-up there were no signs of local recurrence. Our case demonstrates the value of vismodegib treatment prior to surgery in a locally advanced, high-risk scalp BCC and highlights the importance of an individualized and specialized approach with these patients, within a multidisciplinary team.


Subject(s)
Humans , Male , Middle Aged , Carcinoma, Basal Cell/drug therapy , Head and Neck Neoplasms/pathology , Patient Care Team , Reconstructive Surgical Procedures , Neoadjuvant Therapy , Antineoplastic Agents/therapeutic use
15.
Autops. Case Rep ; 9(4): e2019120, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024278

ABSTRACT

Chordoma is a rare tumor. It has unique clinical, pathological and immunohistochemical characteristics. Accurate diagnosis is essential as the tumor shows an aggressive clinical course and requires a multimodal therapeutic approach. A case with wide spread distant metastatic disease that was initially thought to represent metastatic thyroid carcinoma is presented. Appropriate clincopathologic correlation and the histologic findings raised the possibility of poorly differentiated chordoma. The diagnosis was confirmed by immunohistochemistry for INI-1 and Brachyury. The approach to the diagnosis emphasizing the clinical and pathologic findings of this case is discussed and reviewed in the context of the published literature.


Subject(s)
Humans , Male , Adult , Chordoma/diagnosis , Chordoma/pathology , Upper Extremity , SMARCB1 Protein/therapeutic use , Neoplasm Metastasis , Notochord/injuries
16.
Autops. Case Rep ; 9(4): e2019094, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024293

ABSTRACT

Neurofibrosarcoma is a rare malignant neoplasm of the head and neck region and accounts for 8% to 16% of all cases. Its origin is varied and may stem from cells of the peripheral nerves, develop de novo, or result from malignant transformation of preexisting neurofibromas. Because the features of neurofibrosarcomas are heterogeneous, the data retrieved during clinical examinations are of great aid for diagnosis. In this case, owing to clinical features and the fact that the patient had neurofibromatosis type 1, the hypothesis of neurofibrosarcoma was promptly established. The final diagnosis was confirmed by associating clinical, imaging, and pathological data. After the treatment, the patient has been followed up for 10 years, with no evidence of recurrence.


Subject(s)
Humans , Female , Adolescent , Mouth Neoplasms/etiology , Neurofibromatosis 1/complications , Neurofibrosarcoma/diagnosis , Mandibular Reconstruction , Neurilemmoma
17.
Autops. Case Rep ; 9(4): e2019091, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024295

ABSTRACT

Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the ß-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.


Subject(s)
Humans , Female , Child, Preschool , Bone Neoplasms/pathology , Fibroma, Desmoplastic/pathology , Mandible
18.
Autops. Case Rep ; 9(4): e2019122, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024306

ABSTRACT

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor. Although the parotid gland is the most common site of involvement, other major salivary glands and the minor salivary glands­most commonly of the palate­also can be involved. The management of mucoepidermoid carcinoma depends on the grade of the tumor and the adequacy of resection. We present the case of a 56-year-old female presenting a painless progressive cheek mass over 2 months. Imaging and fine-needle aspiration cytology provided the diagnosis of Mucoepidermoid carcinoma. A superficial parotidectomy was done, and the histopathology revealed a predominantly cystic tumor with a bilayered epithelium of oncocytic and basal cells. Moderate nuclear pleomorphism with infiltration of atypical squamous cells in few glandular cysts was seen. Special staining revealed the presence of intracellular mucin. A diagnosis of Warthin-like variant of MEC was made, based on these findings. After the surgical procedures, the patient is disease-free at 8 months of follow-up. The Warthin-like variant is a rare variant of MEC with fewer than 10 cases described in the English literature. Various differential diagnoses include the malignant transformation of Wartin tumor (WT), squamous metaplasia of WT, and metastasis from a distant primary. We emphasize the role of routine microscopy in identifying rare variants of common malignancies. Even though translocation studies are helpful in diagnosis, the typical histopathological findings should confirm it.


Subject(s)
Humans , Female , Middle Aged , Parotid Neoplasms/pathology , Carcinoma, Mucoepidermoid/pathology , Carcinoma, Mucoepidermoid/surgery , Carcinoma, Mucoepidermoid/therapy
19.
Rev. méd. Urug ; 35(4): 316-324, dic. 2019. tab, fig
Article in Spanish | LILACS | ID: biblio-1026161

ABSTRACT

Cuando la falla intestinal ocurre luego de una resección intestinal masiva se denomina síndrome de intestino corto. Es una entidad rara, con un espectro clínico que va desde una disfunción leve y reversible hasta una condición grave e incapacitante. Presenta una elevada morbimortalidad, altos costos de atención médica e importante impacto en la calidad de vida. El 50% de los pacientes con síndrome de intestino corto no se adaptan espontáneamente ni mejoran la absorción por el intestino remanente, por lo que deben recurrir de por vida a la nutrición parenteral. La terapia nutricional especializada y el tratamiento hormonal focalizado en el intestino son pilares en la rehabilitación promoviendo la adaptación intestinal, logrando independencia de la nutrición parenteral y evitando el trasplante intestinal. Actualmente, teduglutide es el tratamiento de referencia en estos pacientes, pero hasta el momento inaccesible en Uruguay por su elevado costo. Presentamos el único caso en nuestro país de un paciente de 23 años portador de falla intestinal crónica por síndrome de intestino corto que depende de la nutrición parenteral desde hace 17 años y presenta complicaciones graves asociadas a esta técnica.


Short bowel syndrome consists of intestinal failure after a massive intestinal resection. It is an unusual condition, ranging from a mild and reversible malfunction to a severe condition causing inability. Short bowel syndrome has high morbimortality, high medical costs and a significant impact on quality of life. 50% of patients with short bowel syndrome do not spontaneously adapt and neither does absorption improve by the remaining intestine, thus they depend on parenteral nutrition for the rest of their lives. Specialized nutritional therapy and focalized hormone therapy in the intestine are pillars in rehabilitation. They promote intestine adaptation and achieve independence from parenteral nutrition and avoid intestinal transplant. Today, Teduglutide is the reference treatment for these patients, although it is still not available in Uruguay due to its high cost. The study presents a 23 year old patient carrier of chronic intestinal failure due to short bowel syndrome who has depended on parenteral nutrition for 17 years and presents severe complications associated to this technique.


Quando a falência intestinal ocorre depois de uma ressecção intestinal massiva é chamada Síndrome de intestino curto. É uma entidade rara, com um espectro clínico que pode manifestar-se por uma disfunção leve e reversível até um quadro grave e incapacitante. Apresenta alta morbimortalidade, altos custos de atenção médica e grande impacto sobre a qualidade de vida do paciente. 50% dos pacientes com síndrome de intestino curto não se adaptam espontaneamente nem conseguem uma melhoria da absorção pelo intestino restante sendo obrigados a utilizar nutrição parenteral de forma permanente. A terapia nutricional especializada e o tratamento hormonal focado no intestino são as bases da reabilitação promovendo a adaptação intestinal, diminuindo a dependência da nutrição parenteral e evitando o transplante intestinal. Atualmente o Teduglutide é o tratamento de referência para estes pacientes, porém devido ao seu elevado custo não é acessível aos pacientes no Uruguai. Apresentamos o único caso no país, de um paciente de 23 anos portador de falência intestinal crônica por síndrome de intestino curto que depende de nutrição parenteral há 17 anos e apresenta complicações graves associadas a esta técnica.


Subject(s)
Adult , Short Bowel Syndrome/complications , Parenteral Nutrition
20.
Rev. méd. Urug ; 35(4): 325-331, dic. 2019.
Article in Spanish | LILACS | ID: biblio-1026238

ABSTRACT

Introducción: las úlceras genitales se caracterizan por su gran heterogeneidad clínica y etiológica. Pueden corresponder a entidades patológicas cutáneas o sistémicas de naturaleza infecciosa o no infecciosa. Dentro de estas últimas, se destacan las úlceras de Lipschütz y la enfermedad de Behcet. Objetivo: describir cuatro casos clínicos de adolescentes con úlceras vulvares agudas de causa no infecciosa hospitalizadas en dos prestadores del Sistema Nacional Integrado de Salud de Montevideo con el objetivo de brindar herramientas a profesionales para el correcto abordaje diagnóstico y terapéutico. Discusión: la realización de una anamnesis detallada y un examen físico minucioso son esenciales para realizar un adecuado abordaje diagnóstico y terapéutico. En el análisis clínico es importante considerar la edad de la paciente, el inicio de relaciones sexuales, el número, topografía y características de las úlceras incluyendo la presencia o no de dolor, así como la asociación de manifestaciones sistémicas. Resulta necesario el conocimiento de esta patología poco frecuente en niñas y adolescentes cuyo abordaje diagnóstico y terapéutico depende de la orientación etiológica basada en criterios epidemiológicos y clínicos bien definidos. Ello contribuirá a mejorar la calidad de la asistencia y a minimizar las repercu¬siones biológicas y psicológicas.


Introduction: genital ulcers are characterized by great clinical and etiological heterogeneity. They may correspond to infectious or non-infectious skin or systemic pathologies. Lipschütz ulcer and Behcet disease stand out among non-infectious conditions. Objective: to describe four clinical cases of adolescents with non-infectious severe vulvar ulcers hospitalized in two institutions of the national integrated health system in Montevideo, with the purpose of providing professionals with tools for the adequate diagnostic and therapeutic approach. Discussion: a detailed anamnesis questionnaire and a thorough physical examination are of the essence for an adequate diagnostic and therapeutic approach. The clinical analysis should include considering the patient's age, initiation of sexual intercourse, the number, topography and characteristics of the ulcers including finding out whether there is pain or not, as well as the association of systemic manifestations. It is important to learn about this rather unusual condition in girls and adolescents, whose diagnostic and therapeutic approach depends on the etiological orientation based on well-defined epidemiological and clinical criteria. This will contribute to improving the quality of assistance and minimizing biological and psychological effects.


Introdução: as úlceras genitais se caracterizam por uma grande heterogeneidade clínica e etiológica. Podem ser causadas por patologias cutâneas ou sistémicas tanto infecciosas como não infecciosas. Entre as últimas, destacam-se as úlceras de Lipschütz e a doença de Behçet. Objetivo: descrever quatro casos clínicos de adolescentes com úlceras vulvares agudas de causa não infecciosa hospitalizadas em duas unidades de saúde do sistema nacional integrado de saúde de Montevidéu buscando oferecer ferramentas para uma correta abordagem diagnóstica e terapêutica. Discussão: é fundamental realizar uma anamnese detalhada e um exame físico minucioso para uma abordagem diagnóstica e terapêutica adequada. O exame clínico deve incluir a idade da paciente, o inicio das relações sexuais, o número, topografia e características das úlceras incluindo a presencia ou não de dor, bem como a associação com manifestações sistémicas. É necessário conhecer esta patologia pouco frequente em meninas e adolescentes cuja abordagem diagnóstica e terapêutica depende da orientação etiológica baseada em critérios epidemiológicos e clínicos bem definidos. Isso contribuirá para melhorar a qualidade da assistência e a minimizar as repercussões biológicas e psicológicas.


Subject(s)
Humans , Female , Child , Adolescent , Vulvar Diseases/diagnosis , Vulvar Diseases/etiology , Ulcer/diagnosis
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