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El doble arco aórtico persistente es una patología caracterizada por anomalías embrionarias en la vascularización, que pueden afectar de manera indirecta a otros sistemas, como el digestivo y el respiratorio. El objetivo de este documento es reportar un caso de doble arco aórtico, persistente en un cachorro Bull terrier, de seis meses de edad. El paciente ingresó a consulta por motivo de regurgitaciones frecuentes y pérdida ponderal. En el estudio radiográfico, se evidenció dilatación esofágica craneal a la base del corazón y en la toracotomía, se confirmó un doble arco aórtico persistente. Se realizó manejo nutricional y posteriormente, corrección quirúrgica de la anomalía vascular. Este es el primer caso de una anomalía de este tipo en Colombia. Se concluye, que un manejo quirúrgico enfocado a liberar el anillo estenosante y a recuperar la función esofágica, son la base terapéutica de este tipo de alteraciones.
Persistent double aortic arch is a pathology characterized by embryonic vascularization anomalies, which can indirectly affect other systems such as the digestive and respiratory systems. The objective of this document is to report a case of persistent double aortic arch in a six-month-old Bull Terrier puppy. The patient was admitted for consultation due to frequent regurgitation and weight loss. The radiographic study revealed cranial esophageal dilation at the base of the heart, and a thoracotomy confirmed a persistent double aortic arch. Nutritional management was performed and subsequently, surgical correction of the vascular anomaly. This is the first case of an anomaly of this type in Colombia. It is concluded that surgical management focused on releasing the stenosing ring and recovering esophageal function are the therapeutic basis for this type of alteration.
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Chagas disease (CD), caused by the protozoan parasite Trypanosoma cruzi, affects 8 million people, and around 1/3 develop chronic cardiac (CCC) or digestive disease (megaesophagus/megacolon), while the majority remain asymptomatic, in the indeterminate form of Chagas disease (ASY). Most CCC cases in families with multiple Chagas disease patients carry damaging mutations in mitochondrial genes. We searched for exonic mutations associated to chagasic megaesophagus (CME) in genes essential to mitochondrial processes. We performed whole exome sequencing of 13 CME and 45 ASY patients. We found the damaging variant MRPS18B 688C > G P230A, in five out of the 13 CME patients (one of them being homozygous; 38.4%), while the variant appeared in one out of 45 ASY patients (2.2%). We analyzed the interferon (IFN)-γ-induced nitro-oxidative stress and mitochondrial function of EBV-transformed lymphoblastoid cell lines. We found the CME carriers of the mutation displayed increased levels of nitrite and nitrated proteins; in addition, the homozygous (G/G) CME patient also showed increased mitochondrial superoxide and reduced levels of ATP production. The results suggest that pathogenic mitochondrial mutations may contribute to cytokine-induced nitro-oxidative stress and mitochondrial dysfunction. We hypothesize that, in mutation carriers, IFN-γ produced in the esophageal myenteric plexus might cause nitro-oxidative stress and mitochondrial dysfunction in neurons, contributing to megaesophagus.
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ABSTRACT Background: No study has focused on Health-Related Quality of Life (HRQoL) for Chagas Achalasia patients. Objective: To compare HRQoL between Chagas Achalasia patients and the general population; and to correlate HRQoL with clinical factors that can affect it. Methods: Sixty Chagas Achalasia patients and 50 controls were evaluated. All patients underwent esophageal manometry for the diagnosis of achalasia and esophagogram to determine the grade of megaesophagus. Three questionnaires were used: 1) clinical: the following data were collected: demographic, medical history, body mass index, occurrence of six esophageal symptoms (Esophageal Symptom Score: number of symptoms reported by patients), duration of dysphagia; 2) socio-economic-cultural status evaluation: patients and controls answered seven questions about their socio-economic-cultural conditions; 3) HRQoL: the validated Brazilian-Portuguese version of the Short-form Health Survey (SF-36) questionnaire (license QM020039) was used. It measures health in eight domains: 3a) four physical: physical functioning, role limitations relating to physical health, bodily pain, and general health perception; 3b) four mental: vitality, social functioning, role limitations relating to emotional health, and mental health. These domains can be summarized into Physical and Mental Summary scores. We analyzed correlations between SF-36 Physical/Mental Summary Component scores and the following clinical factors: Esophageal Symptom Score, duration of dysphagia, body mass index, grades of megaesophagus (defined by the esophagogram) and presence/absence of megacolon (defined by opaque enema). Results: Patients and controls had similar age, gender, medical history, and socio-economic-cultural lifestyles (P>0.05). All patients had dysphagia and megaesophagus. SF-36 scores were significantly lower in Chagas Achalasia patients than controls for all eight domains (physicals: P<0.002; mentals: P<0.0027). The Physical and Mental Summary Component scores were also lower in Chagas Achalasia patients than controls (P<0.0062). For patients, the Physical Summary score was negatively correlated to Esophageal Symptom Score (P=0.0011) and positively correlated to body mass index (P=0.02). No other correlations were found. Conclusion: Chagas Achalasia patients have an impaired HRQoL in all physical and mental domains. Patients reporting more symptoms had worse physical domains. Patients with higher body mass index had better physical domains.
RESUMO Contexto: Não encontramos na literatura estudos sobre a qualidade de vida em pacientes com acalásia chagásica especificamente. Objetivo: Comparar a qualidade de vida de pacientes com acalásia chagásica e a da população em geral. Também, correlacionar a qualidade de vida nestes pacientes com fatores clínicos que possam afetá-la. Métodos: Estudamos 60 pacientes com acalásia chagásica e 50 controles. Todos os pacientes foram submetidos à manometria esofágica para diagnóstico de acalásia e esofagograma técnica padrão para determinar o grau do megaesôfago. Usamos 3 questionários: 1) clínico: foram coletados os seguintes dados: demográficos, história clínica, índice de massa corporal, presença de seis sintomas esofágicos (definimos Escore de Sintomas Esofágicos como o número de sintomas relatados pelos pacientes), duração da disfagia; 2) avaliação sócio-econômico-cultural: sete questões sobre as condições sócio-econômico-culturais foram perguntadas para pacientes e controles; 3) qualidade de vida: foi avaliada pelo questionário SF-36, versão validada para o português-Brasil (licença QM020039). Este é um questionário genérico que mede a qualidade de vida em oito domínios: 3a) quatro físicos: capacidade funcional, aspectos físicos, dor corporal, estado geral de saúde; 3b) quatro mentais: vitalidade, aspectos sociais, aspectos emocionais, saúde mental. Estes oito domínios podem ser compilados em dois escores: Sumário dos Escores Físicos e Sumário dos Escores Mentais. Na análise de fatores clínicos que pudessem afetar a qualidade de vida dos pacientes, avaliamos: escores de sintomas esofágicos, duração da disfagia, índice de massa corporal, graus de megaesôfago e presença/ausência de megacólon. Resultados: Os dois grupos (pacientes e controles) apresentaram semelhantes idade, gênero, história médica e condições socioeconômico-culturais (P>0,05). Todos os pacientes tinham disfagia e megaesôfago. Com relação à qualidade de vida, pacientes com acalásia chagásica apresentaram valores significativamente menores do que os controles em todos os domínios do questionário SF-36 (domínios físicos: P<0,002; domínios mentais: P<0,0027). Os Sumários dos Escores Físicos e Mentais também foram significativamente menores em pacientes do que nos controles (P<0.0062). A análise dos fatores clínicos que poderiam afetar a qualidade de vida nos pacientes mostrou que o Sumário dos Escores Físicos se correlaciona negativamente com o Escores Dos Sintomas Esofágicos (P=0,0011) e positivamente com o índice de massa corporal (P=0,02). Não observamos qualquer outra correlação. Conclusão: Pacientes com Acalásia Chagásica têm pior qualidade de vida que a população em geral, em todos os domínios físicos e mentais. Pacientes que relataram mais sintomas apresentaram pior qualidade de vida nos domínios físicos. Pacientes com valores maiores de índice de massa corporal apresentaram melhor qualidade de vida nos domínios físicos.
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BACKGROUND: Chagasic megaesophagus (CM) as well as the presence of human papillomavirus (HPV) has been reported as etiological factors for esophageal squamous cell carcinoma (ESCC). OBJECTIVE: We assessed the prevalence of HPV DNA in a series of ESCCs associated or not with CM. Data obtained were further correlated to the pathological and clinical data of affected individuals. METHODS: A retrospective study was performed on 92 formalin-fixed and paraffin-embedded tissues collected from patients referred to 3 different hospitals in São Paulo, Brazil: Barretos Cancer Hospital, Barretos, São Paulo; Federal University of Triângulo Mineiro, Uberaba, Minas Gerais; and São Paulo State University, Botucatu, São Paulo. Cases were divided into 3 groups: (i) 24 patients with CM associated with ESCC (CM/ESCC); (ii) 37 patients with ESCC without CM (ESCC); and (iii) 31 patients with CM without ESCC (CM). Detection of HPV DNA was assessed in all samples by a genotyping assay combining multiplex polymerase chain reaction and bead-based Luminex technology. RESULTS: We identified a high prevalence of high-risk HPV in patients in the CM group (12/31, 38.8%) and CM/ESCC (8/24, 33.3%), compared to individuals in the ESCC group (6/37, 16.3%). The individuals in the groups with cancer (ESCC and CM/ESCC) had a higher frequency of HPV-16 (4/9, 44.5% and 2/8, 25.0%). The other types of high-risk HPVs detected were HPV-31, 45, 51, 53, 56, 66, and 73. We also observed in some samples HPV coinfection by more than one viral type. Despite the high incidence of HPV, it did not show any association with the patient's clinical-pathological and molecular (TP53 mutation status) characteristics. CONCLUSION: This is the first report of the presence of HPV DNA in CM associated with ESCC. HPV infection was more presence in megaesophagus lesions. Further studies are needed to confirm and better understand the role of persistent HPV infection in patients with CM.
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Alphapapillomavirus , Carcinoma de Células Escamosas , Acalasia Esofágica , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Infecções por Papillomavirus , Brasil , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiologia , DNA Viral/genética , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/epidemiologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/epidemiologia , Humanos , Papillomaviridae/genética , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/epidemiologia , Estudos RetrospectivosRESUMO
Background: Aberrant right subclavian artery is only rarely observed in veterinary medicine. Some animals may present postprandial regurgitation and progressive weight loss, which is considered an incidental finding unrelated to clinical alterations. Advanced imaging techniques such as thoracic CT scan, magnetic resonance imaging (MRI) and contrast angiography are used for the accurate detection of lesions, anatomical changes and specific information about vascular rings. This paper describes the clinical changes, imaging exams and therapeutic approach in a female dog with megaesophagus induced by an aberrant right subclavian artery. Case: A 2-month-old female bull terrier, weighing 1.6 kg, with a history of regurgitation immediately or a few minutes after a meal, diarrhea, polyphagia, progressive emaciation and apathy for 45 days, was treated at a University Veterinary Hospital. The dog's physical examination revealed 7% dehydration and body condition score 1 (scale 1 to 5), but no cardiac or pulmonary alterations upon auscultation. The hematological analysis and renal and hepatic serum enzymes were within the normal range for the species. In view of the presumptive clinical diagnosis of vascular anomaly, suggested by the contrast X-ray examination, a chest tomography was performed, which revealed altered aortic arch shape and contours, and a posterior aneurysm in the area of abnormal connection of the right subclavian artery. The patient was released with a prescription for conservative dietary management for megaesophagus. Within two weeks, the patient returned with a report of a good response to the prescribed therapy, absence of vomiting and diarrhea, and an increase in body weight. Surgical correction was recommended, but has not been performed so far, but conservative treatment for megaesophagus was continued. No further episodes of regurgitation were identified during the nine-month follow-up period. Discussion: In the case reported here, the right subclavian artery is considered anatomically atypical because it arises directly from the aortic arch. This vascular anomaly passes on to the right pectoral limb, dorsal to the esophagus, contracting it in its dorsal aspect. It tends to affect purebred dogs, occurring more frequently in Irish setters, German shepherds and Labrador retrievers, although it has been described in other breeds such as the bull terrier documented here and mixed breed dogs. Vascular ring anomalies may not cause clinical changes in animals and represent only incidental findings, or they may lead to gastrointestinal changes resulting from esophageal stricture, contributing to megaesophagus and clinical signs of esophageal obstruction, especially in recently weaned puppies. Such alterations were observed in this case, with the dog presenting regurgitation, immediately or a few minutes after a meal, megaesophagus, diarrhea and progressive weight loss. A CT scan was performed to confirm the type and location of the vascular anomaly and diagnostic accuracy, as recommended in the literature. Dietary therapy is one of the approaches adopted for patients presenting with regurgitation resulting from megaesophagus secondary to vascular anomalies. The dog in this report responded well to the medical therapy; nevertheless, the treatment of choice to correct the esophageal obstruction caused by this anomaly is surgical sectioning of the aberrant vessel by right intercostal thoracotomy, given that the degree of esophageal dilation and dysfunction tends to increase over time. However, at this time, the animal's owner decided to suspend the recommended surgical procedure.
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Animais , Feminino , Cães , Artéria Subclávia/anatomia & histologia , Artéria Subclávia/anormalidades , Artéria Subclávia/diagnóstico por imagem , Acalasia Esofágica/veterinária , Espectroscopia de Ressonância Magnética , Tomografia Computadorizada por Raios X/veterináriaRESUMO
Objetivos: classificar pacientes chagásicos com a forma digestiva da doença associando com variáveis demográficas, clínicas e de utilização de serviços de saúde, além de analisar as possibilidades de atuação da Atenção Primária à Saúde (APS) no manejo e acompanhamento dos casos. Casuística e métodos: estudo transversal com base em dados secundários provenientes de prontuários. Foram utilizadas as classificações do megaesôfago e do megacólon propostas por Rezende (1982) e Silva (2013), respectivamente. Resultados: Foram analisados 156 prontuários, sendo 94 (60,2%) relativos a megaesôfagos, 29 (18,6%) a megacólons e 29 (18,6%) a ambas as formas clínicas. O maior número de internações (p=0,02; OR=3,71) e de dias internados (p<0,01; OR=3,30) foi associado aos pacientes classificados nos grupos III e IV de megaesôfago. Em relação ao sexo masculino (p=0,02), o maior número de internações (p<0,0001) e de dias internados (p<0,0001) foi associado aos pacientes classificados no grau III de megacólon. Conclusões: Concluiu-se que a APS possui papel importante na diminuição da sobrecarga dos serviços de média e alta complexidade com o acompanhamento dos casos estáveis e menos graves e que a melhoria da qualidade de vida dos pacientes chagásicos é um efeito direto que pode ser esperado do protagonismo da APS neste cuidado.
Objectives: To classify chagasic patients with the digestive form of the disease, associating with demographic, clinical, and use of health services variables, in addition to analyzing the possibilities of Primary Health Care (PHC) acting in the management and follow-up of cases. Casuistry and Methods: A cross-sectional study based on secondary data from medical records was conducted. We used the classification of megaesophagus and megacolon proposed by Rezende (1982) and Silva (2013), respectively. Results: 156 medical records were analyzed: 94 (60.2%) related to megaesophagus, 29 (18.6%) to megacolon, and 29 (18.6%) with both clinical forms. The highest number of hospitalizations (p=0.02; OR=3.71) and days hospitalized (p<0.01; OR=3.30) were associated with patients classified in groups III and IV with megaesophagus. Male gender (p=0.02), more hospitalizations (p=0.0001), and more days in the hospital (p=0.0001) were all linked to patients classified as having gradeIII megacolon. Conclusions: We concluded that PHC has an important role in reducing the burden of medium and high-complexity services with the monitoring of stable and less severe cases. It also demonstrated the direct effect of PHC protagonism on the improvement of chagasic patients' quality of life.
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Atenção Primária à Saúde , Qualidade de Vida , Acalasia Esofágica , Doença de Chagas , Serviços de Saúde , MegacoloRESUMO
Tissue damage observed in the clinical forms of chronic symptomatic Chagas disease seems to have a close relationship with the intensity of the inflammatory process. The objective of this study was to investigate whether the MICA (MHC class I-related chain A) and KIR (killer cell immunoglobulin-like receptors) polymorphisms are associated with the cardiac and digestive clinical forms of chronic Chagas disease. Possible influence of these genes polymorphisms on the left ventricular systolic dysfunction (LVSD) in patients with chronic Chagas heart disease was also evaluated. This study enrolled 185 patients with positive serology for Trypanosoma cruzi classified according to the clinical form of the disease: cardiac (n=107) and digestive (n=78). Subsequently, patients with the cardiac form of the disease were sub-classified as with LVSD (n=52) and without LVSD (n=55). A control group was formed of 110 healthy individuals. Genotyping was performed by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP). Statistical analyzes were carried out using the Chi-square test and odds ratio with 95% confidence interval was also calculated to evaluate the risk association. MICA-129 allele with high affinity for the NKG2D receptor was associated to the LVSD in patients with CCHD. The haplotype MICA*008~HLA-C*06 and the KIR2DS2-/KIR2DL2-/KIR2DL3+/C1+ combination were associated to the digestive clinical form of the disease. Our data showed that the MICA and KIR polymorphisms may exert a role in the LVSD of cardiac patients, and in digestive form of Chagas disease.
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Cardiomiopatia Chagásica/etiologia , Doença de Chagas/complicações , Gastroenteropatias/etiologia , Antígenos de Histocompatibilidade Classe I/metabolismo , Receptores KIR/genética , Disfunção Ventricular Esquerda/etiologia , Alelos , Estudos de Casos e Controles , Cardiomiopatia Chagásica/diagnóstico , Cardiomiopatia Chagásica/metabolismo , Doença de Chagas/parasitologia , Suscetibilidade a Doenças/imunologia , Gastroenteropatias/diagnóstico , Gastroenteropatias/metabolismo , Predisposição Genética para Doença , Antígenos HLA/genética , Antígenos HLA/imunologia , Haplótipos , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Imunogenética , Receptores KIR/metabolismo , Disfunção Ventricular Esquerda/metabolismo , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
Background: Nasopharyngeal polyps are benign and inflammatory masses assumed to arise from the middle ear or the eustachian tube with extension into the pharynx. The most common clinical signs associated with nasopharyngeal polyps include respiratory stertor, dyspnea, and otic discharge. Neurological signs, including head tilt, facial nerve paralysis, and ataxia, might indicate concurrent involvement of the middle or inner ear. The objective of the current report is to describe a case of a feline nasopharyngeal polyp with a concurrent hiatal hernia and megaesophagus, both spontaneously resolved after removal of the polyp. Case: A 6-month-old female intact domestic shorthair cat was presented for evaluation of lethargy, anorexia, and upper respiratory signs, such as stridor, stertor, and dyspnea. A thoracic radiography revealed esophageal dilation caudal to the cardiac silhouette, suggestive of megaesophagus with gaseous filtration. An esophagram confirmed a hiatal hernia and megaesophagus. Computed tomography revealed a nasopharyngeal mass adjacent to the soft palate and a soft-tissue density in the right tympanic bulla. A tentative diagnosis of a nasopharyngeal polyp was made. After the ventral bulla osteotomy, the nasopharyngeal mass was removed by a gentle traction avulsion technique. Six days after the surgery, hiatal hernia and megaesophagus were spontaneously resolved. Based on histopathologic exam, the mass was found to be an inflammatory nasopharyngeal polyp. Two months after surgery, the owner reported that the patient's condition had returned to baseline with a good appetite, and the thoracic radiography was within normal limit. Discussion: For successful treatment of a nasopharyngeal polyp, traction avulsion of the polyp with or without a ventral bulla osteotomy is recommended. However, in patients with otitis media, a ventral bulla osteotomy followed by traction avulsion of the polyp is recommended in order to reduce the rate of polyp recurrence. Common clinical signs of a nasopharyngeal polyp are stertor, stridor, dyspnea, dysphagia, and open-mouth breathing, which are identified in a chronic upper airway obstruction. A hiatal hernia secondary to a nasopharyngeal polyp has not been reported so far. However, a relationship between chronic upper airway obstruction and hiatal hernias has been proposed previously. Moreover, hiatal hernia resolved spontaneously after removal of the nasopharyngeal polyp suggests that the occurrence of the hiatal hernia was secondary to the nasopharyngeal polyp. In addition to the hiatal hernia, megaesophagus was also identified in the present case. Megaesophagus secondary to a chronic upper airway obstruction from a nasopharyngeal obstruction has been reported. However, megaesophagus is also thought to occur secondary to hiatal hernias. Therefore, in the current study, it is unclear whether the megaesophagus was solely a result of the obstructive nature of the nasopharyngeal polyp or a combination of the hiatal hernia and the nasopharyngeal polyp. In conclusion, any cat with clinical signs of an upper airway obstruction and a concurrent hiatal hernia and megaesophagus should be thoroughly investigated for a nasopharyngeal polyp, as well as other gastrointestinal and systemic causes. Furthermore, this case suggests that the prognosis for a concurrent hiatal hernia and megaesophagus is good in cats if the nasopharyngeal polyp is properly removed.
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Animais , Feminino , Gatos , Osteotomia/veterinária , Acalasia Esofágica/veterinária , Pólipos Nasais/veterinária , Orelha Média/cirurgia , Hérnia Hiatal/veterinária , Doenças Nasofaríngeas/veterináriaRESUMO
Resumen El megaesófago se presenta entre el 5 % y el 20 % de pacientes con acalasia, un trastorno motor esofágico primario reconocido hace más de 300 años, a considerarse en todo paciente con disfagia no explicada por un proceso obstructivo o inflamatorio luego de un estudio endoscópico detallado. Se presenta el caso de un paciente con disfagia progresiva, en quien se documentó megaesófago como complicación de una acalasia de largo tiempo de evolución, no tratada. Se descartó la enfermedad de Chagas mediante enzimoinmunoensayo (ELISA) e inmunofluorescencia indirecta (IFI), tal como recomiendan las guías actuales. Ante la baja frecuencia de esta entidad en nuestro medio y las implicaciones terapéuticas que tiene para los pacientes con acalasia, se realizó una revisión narrativa en la literatura sobre su diagnóstico y alternativas de manejo.
Abstract Megaesophagus occurs in between 5% and 20% of patients with achalasia. It is a primary esophageal motor disorder that has been known for more than 300 years. It should be considered in all patients with dysphagia that is not explained by an obstructive or inflammatory process after a detailed endoscopic study. The following is the case of a patient with progressive dysphagia, in whom megaesophagus was documented as a complication of untreated, long-standing achalasia. Chagas disease was ruled out by enzyme immunoassay (ELISA) and indirect immunofluorescence (IF), as recommended by current guidelines. Given the low frequency of this entity in our environment and the therapeutic implications for patients with achalasia, a narrative literature review was carried out to describe its diagnosis and treatment alternatives.