Infantile bullous pemphigoid with "string of pearls sign".

Bullous pemphigoid (BP) is an immune mediated bullous disease that is manifested by urticarial plaques with superimposed subepidermal blisters and significant pruritus. It is generally found in the elderly, but is rare in the pediatric population. A 5-month-old girl previously diagnosed with hand-foot-mouth disease was examined in our dermatology department owing to vesicles and bullae, initially located to the hands and feet, which progressed with new lesions. Tense vesicles and bullae distributed in an annular string of pearls pattern on the abdomen and facial and cervical regions were noted. Histologic and immunologic findings were consistent with the diagnosis of infantile BP. Disease control was obtained with oral prednisolone and dapsone; the patient was still in clinical remission 6 months after treatment cessation. The differential diagnosis of the clinical presentation of the lesions in our patient is of note, given that this blistering pattern is frequently reported in association with linear IgA bullous dermatosis.

Chronic granulomatous disease as a risk factor for cutaneous lupus in childhood.

Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.

Cytomegalovirus and rheumatic diseases: cases-based review.

Cytomegalovirus (CMV) infection is a common and typically benign disease in immunocompetent individuals. However, immunocompromised patients are at a greater risk of reactivation, leading to more severe outcomes. Patients with rheumatic diseases have a particularly high risk of opportunistic infections due to both the inherent immunosuppressive state conveyed by the disease itself and the use of potent immunosuppressant drugs, such as glucocorticoids, cyclophosphamide, and rituximab. Limited data are available regarding prophylactic or preemptive treatment of CMV infection in patients with rheumatic diseases. In this article the authors present two cases of rheumatic conditions complicated by CMV infection. The first case describes a patient with eosinophilic granulomatosis with polyangiitis, previously treated with glucocorticoids and cyclophosphamide, who developed CMV colitis with bowel perforation. The second case involves a woman with systemic lupus erythematosus who was diagnosed with CMV meningitis. Both cases reinforce the importance of establishing guidelines for surveillance and prophylaxis of CMV infection in these patients.

Prevalence of Imaging Detected Silent Male Breast Cancer in Autopsy Specimens: Study of the Disease Held by Image-Guided Biopsies.

Introduction: Regarding male breast cancer, a rare disease comprising ∼1% of breast cancers, data are generally scant. The present study aimed to quantify the imaging detected breast cancer in male gender corpses, determining in this way the prevalence of silent breast cancer in male gender. Methodology: The population target has been male corpses without clinical expression of breast cancer. Seventy-four male corpses have been submitted to bilateral subcutaneous radical mastectomy. Samples have been submitted to echography and mammography imaging and every lesion superior to BI-RADS 4a has been excised. Results: One excisional biopsy has been performed and no case of breast cancer has been identified. Discussion: Our findings suggest that screening of the general population for male breast cancer is not necessary.

Chronic sclerosing sialadenitis (Küttner's tumour) of the submandibular gland: a neoplastic mimic.

A 74-year-old man was referred for a plastic surgery consultation for two previous acute episodes of right submandibular sialadenitis. Physical examination revealed a lump in the right submandibular region, painful on palpation. The initial impression on clinical examination was of sialolithiasis. The sonography demonstrated a structural heterogeneity of the submandibular gland with a hypoechogenic and vascularised nodular formation (1.5×1.2 cm), suggestive of a mixed tumour of the right maxillary gland, requiring histological evaluation. He underwent a right submandibulectomy and an IgG4-positive chronic sclerosing sialadenitis was diagnosed. The patient's condition evolved favourably, resulting in a full recovery. The clinical features and differential diagnosis of this entity are debated in light of relevant literature.

Prevalence of Imaging-Detected Silent Female Breast Cancer in Autopsy Specimens: A Study Using Image-Guided Biopsies.

Background This study was conducted to evaluate the prevalence of imaging-detected silent breast cancer in females, with the hypothesis that the incidence of imaging-detected silent breast cancer in females is greater than the true disease incidence. The main purpose of this study is the attempt to prove whether breast imaging can identify silent breast cancers that apparently are common in serial histology analysis. Methodology A series of 217 consecutive medicolegal autopsies on fresh Portuguese cadavers were performed from July 2016 to December 2019 at the National Institute of Legal Medicine and Forensic Science, Lisbon, Portugal. The criteria for exclusion were age younger than 40 years, the autopsy performed in less than 48 hours after death, any major injury to one or both breasts, and known or clinically evident breast cancer. Once the eligibility criteria were met, and the sample collection authorization was obtained, a bilateral subcutaneous modi-fied radical mastectomy was performed in each fresh cadaver at the National Institute of Legal Medicine and Forensic Science. Mammography, ecography, and excisional biopsies of suspect areas were conducted on the collected samples. Results The indication for excisional biopsy by imaging was assigned in eight cases, and no breast cancer was discovered in the excised specimens. Conclusions In light of the findings, it cannot be concluded that the imaging-detected silent breast cancer prevalence is higher than the actual incidence of the disease, so the author's initial hypothesis was rejected. Mammography does not overdiagnose breast cancer. Benign breast alterations are common, accounting for 43.6% of the corpses collected, while low-suspicion alterations were discovered in 1.84% of breast samples. The objective examination, which included inspection and palpation, missed 37.5% of the biopsied breast changes. This finding indicated that an objective examination leads to a significant number of false-negative results which cannot be used as a screening method.

Cutaneous Rosai-Dorfman disease: a challenging diagnosis.

Rosai-Dorfman disease is a rare benign histiocytic proliferative disease of unknown cause that, in exceptional cases, presents with lesions confined to the skin. Clinically variable types of lesions such as papules, nodules and plaques have been reported. We present a case of a 27-year-old woman with a 1-year history of erythematous papular and nodular lesions on the malar and right axillary regions, previously misdiagnosed as acne. She reported no fever, malaise or weight loss, while physical examination and laboratory workup were normal. Bacteriological and mycobacteriological cultures were negative. Histopathological findings showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, neutrophils, eosinophils, lymphocytes and plasma cells. The patient was treated with oral prednisolone without improvement. Dapsone was subsequently initiated with favourable clinical response. The present article aimed to emphasise the clinical and histological differential diagnosis and share the treatment experience.

Metastatic extramammary paget disease, a remarkable clinical case and a brief review of a rare disease.

Extramammary Paget Disease (EMPD) is an often-misdiagnosed rare disorder, whose cause remains unknown. Diagnosis is confirmed by skin biopsy. Primary treatment for EMPD is surgery. Recurrence is common in the first two years and prognosis is good if the disease is localized and there is no underlying associated cancer. Patients with invasive and metastatic EMPD are uncommon and exhibit a poor prognosis, even when there is good response to a first chemotherapy line. Multiple chemotherapeutic regimens, with varying levels of success, have been attempted, but standard of care is not established. The central nervous system seems to be a common metastatic site with better survival than visceral metastasis.We report a case of metastatic EMPD that addresses the difficulties associated with the treatment of this rare disease, that has no current guidelines.

Urachal Tumor: A Case Report of an Extremely Rare Carcinoma.

The urachus is a tubular structure that connects the bladder to the allantois in the embryonic development, involuting after the third trimester. The urachus carcinoma is an extremely rare tumor that accounts for <1% of all bladder cancers. We report a case of a 46-year-old woman, with no past medical history, complaining of hematuria with 6-month duration and a physical exam and an abdominal computed topographic scan revealing an exophytic mass of 6.8 cm longer axis that grew depending on the anterior bladder wall, invading the anterior abdominal wall. Cystoscopy detected mucosal erosion. The biopsy showed structures of adenocarcinoma of enteric type. The surgical specimen showed urachus adenocarcinoma of enteric type with stage IVA in the Sheldon system and stage III in the Mayo system. This case has a 3-year follow-up without disease recurrence.

Autoeficácia e procrastinação acadêmica em estudantes do ensino superior: um estudo correlacional / Self-efficacy and academic procrastination in higher education students: a correlational study / Autoeficacia y procrastinación académica en estudiantes de enseñanza superior: un estudio correlacional

Os objetivos do estudo são analisar as diferenças da autoeficácia na formação superior (AEFS) e da procrastinação acadêmica em função do sexo, idade e momento do curso e estabelecer relações entre os construtos. Participaram da investigação 1.635 estudantes do ensino superior, 66,5% mulheres, 48,6% ingressantes e 67,5% menores de 22 anos. Os instrumentos utilizados foram a Escala de Autoeficácia na Formação Superior e a Escala de Procrastinação Acadêmica. As mulheres relataram níveis superiores na AEFS e nas dimensões regulação da formação, ações proativas e gestão acadêmica. Os estudantes mais velhos descreveram autoeficácia mais elevada na totalidade da escala e em todas as dimensões e os ingressantes indicaram menor nível de autoeficácia acadêmica. Os homens e os estudantes mais jovens relataram resultados mais elevados na procrastinação. As correlações entre a autoeficácia e a procrastinação são negativas e, na maioria, moderadas. Os achados reforçam a relação conceitual entre os construtos e potenciais implicações para o sucesso acadêmico são discutidas.

The purposes of this study are to examine gender, age and graderelated differences in Higher Education Self-efficacy (HESE) and Academic Procrastination, also to investigate the relationship between the constructs. This study was conducted using 1.635 undergraduates, 66.5% of them were women, 48.6% were freshman, and 65.7% were students under the age of 22 years old. The data was collected using the Higher Education Self-efficacy Scale and the Academic Procrastination Scale. The women had a higher level of HESE and of education regulation, proactive actions, and academic management factors. Students above the age of 22 reported high values of self-efficacy in all of its factors and the freshman showed a lower level of academic self-efficacy. The male and the younger students reported higher values of procrastination. There were negative correlations between the levels of Self-efficacy and Procrastination in an almost moderate relationship. These findings were strengthening the conceptual relationship between the constructs and the potential implications to undergraduates' academic success are discussed.

Los objetivos del estudio son analizar las diferencias de la Autoeficacia para la Formación Superior (AEFS) y la Procrastinación Académica en función del sexo, edad y año cursado; y establecer relaciones entre los constructos.Participaron de la investigación 1.635 estudiantes, siendo: 66.5% mujeres, 48.6% ingresantes y 67.5% menores de 22 años. Los instrumentos utilizados fueron las Escala de Autoeficacia en la Formación Superior y Escala de Procrastinación Académica. Las mujeres relataron valores más altos en la AEFS total y en lasdimensiones regulación de la formación, acciones proactivas, gestión académica. Los estudiantes con más edad describieron Autoeficacia total más elevada y en sus dimensiones y los ingresantes indicaron valores menores en la Autoeficacia académica. Los hombres y los estudiantes más jóvenes relataron una mayor frecuencia de Procrastinación. Las correlacións entre la AEFS y la procrastinación son negativas y moderadas en la mayor parte de las relaciones estudiadas. Los esultados refuerzan la relación conceptual entre los constructos y se presentan las implicaciones para el éxito académico.

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown. CASE PRESENTATION: A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. CONCLUSIONS: To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.

Characterization of CD44+ALDH1+Ki-67- Cells in Non-malignant and Neoplastic Lesions of the Breast.

BACKGROUND: Cancer stem cells are tumor cells that present self-renewal, clonal tumor initiation capacity and clonal long-term repopulation potential. We have previously demonstrated that the co-expression of the breast cancer stem cell (BCSC) markers hyaluronan receptor (CD44) and aldehyde dehydrogenase-1 (ALDH1) in ductal carcinomas in situ could be determinant for disease progression. Combining these established BCSC markers with Ki-67 to evaluate quiescence we sought to identify, evaluate the distribution and estimate the mean percentages of CD44(+)ALDH1(+)Ki-67(-) breast cells. MATERIALS AND METHODS: Triple-immunohistochemistry for CD44, ALDH1 and Ki-67 was applied in a series of 16 normal, 54 non-malignant and 155 malignant breast tissues. Clinical relevance was inferred by associations with markers of breast cancer behavior, progression and survival. RESULTS: The mean percentages of cells with this phenotype increased significantly from non-malignant lesions to high-grade ductal carcinomas in situ, decreasing in invasive ductal carcinomas, as also evidenced by an inverse correlation with histological grade and tumor size. The mean percentage of CD44(+)ALDH1(+)Ki-67(-) cells was also significantly higher in women who developed distant metastasis and died due to breast cancer, and a significant association with human epidermal growth factor type 2 (HER2) negativity was observed. CONCLUSION: Our novel findings indicate that CD44(+)ALDH1(+)Ki-67(-) tumor cells may favor distant metastasis and can predict overall survival in patients with ductal carcinomas of the breast. More importantly, quiescence may have a crucial role for tumor progression, treatment resistance and metastatic ability of BCSCs.

Hypertension plus diabetes mimics the cardiomyopathy induced by nitric oxide inhibition in rats.

STUDY OBJECTIVES: We compared the myocardial lesions caused by the long-term inhibition of nitric oxide (NO) biosynthesis with those associated with renovascular hypertension (two-kidney, one-clip model [2K-1C]) and superimposed streptozotocin-induced diabetes mellitus (DM). DESIGN: Prospective trial. SETTING: University laboratory. INTERVENTIONS: Male Wistar rats were classified into the following groups: (1) a control group; (2) the L-NAME group (treatment with the NO synthase inhibitor N(omega)-nitro-L-arginine methyl ester [L-NAME], 75 micro mol per rat per day, orally); (3) the 2K-1C group (renovascular hypertension); (4) the DM group (treatment with streptozotocin, 60 mg/kg via intraperitoneal route); and (5) the 2K-1C plus DM group (renovascular hypertension and streptozotocin-induced DM). Arterial BP was measured by a tail-cuff method for 3 weeks, after which histologic and stereological analysis of the heart was done and cardiac NO synthase type 3 (NOS3) levels were assessed by Western blotting. The circulating levels of nitrates/nitrites and thromboxane B(2) (TXB(2), the stable metabolite of thromboxane A(2)) were also measured. RESULTS: In DM and 2K-1C rats, the myocardial lesions consisted mainly of recent myocardial infarcts, which were more severe in the 2K-1C plus DM group. In L-NAME-treated rats, multiple foci of reparative fibrosis and fresh myocardial necrosis resembled the severe lesions found in the 2K-1C plus DM group. Although NOS3 protein expression increased (19 to 44%; p < 0.05) in all treated groups, serum nitrate/nitrite levels decreased only in the L-NAME group and the 2K-1C plus DM group. These two groups also showed a more pronounced increase in TXB(2) concentrations. CONCLUSIONS: These results indicate that the association of hypertension and DM mimics the alterations induced by L-NAME in rats, which suggests a role for NO in the pathophysiology of hypertensive-diabetic cardiomyopathy.

Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association.

Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA.

Distance exercised during submaximal training on race winnings for Thoroughbred racehorses / Distância percorrida durante treinamento submáximo sobre rendimentos de cavalos de corrida da raça Puro Sangue Inglês

Evaluations of the physical fitness of Thoroughbred racehorses have been correlated with race earnings, but few reports exist about the influence of the distance exercised during training on both physical conditioning indices and financial productivity. During one training season sixteen claiming Thoroughbred horses were subjected to submaximal training and monitored by a global positioning system (GPS) coupled to a heart rate monitor. After initial and single monitoring, the horses were distributed into two groups of eight individuals each; one group exercised short distances (SD) between 1600 and 1900m, while the other exercised long distances (LD) between 2000 and 2350m. The duration (min) and mean and maximal velocities (ms-1)attained during each session were determined, as well as the difference in distances exercised (m) between official races and each training session. Blood lactate concentration ([LA]) during recovery was also determined. Student's t-test was used for a non-paired analysis, with P≤0.05 considered significant. The winnings (USD) of each horse were correlated with the peak heart rate (HRpeak) attained during the training session. The distances exercised in the training sessions were greater in relation to the official races distances by 24.7% and 40% for SD and LD, respectively. Lactatemia did not differ between the groups. The HRpeak obtained during the training session was lower in LD group. The velocity at which the heart rate reached 200 bpm (V200) was higher in LD group. There was a moderate correlation (r= 0.42) between the highest winnings and lowest HRpeak. The horses that ran longer distances during their submaximal training session had better cardiac conditioning and tendency to increase financial productivity.

Avaliações da aptidão física de cavalos Puro Sangue Inglês (PSI) têm sido correlacionadas com o ganho financeiro, mas a influência da distância percorrida durante o treinamento, tanto sobre índices de condicionamento físico como na produtividade financeira tem sido pouco relatada. Monitoraram-se, por meio de global positioning system (GPS) acoplado a frequencímetro, numa temporada de treinamento, dezesseis equinos da raça PSI, de uma mesma categoria, submetidos a treinamento submáximo. Após o monitoramento inicial e único de uma sessão de treino, os equinos foram distribuídos em dois grupos de oito componentes (DC e DL) diferenciados de acordo com a distância percorrida durante cada sessão de treino, sendo DC para distância curta e DL para distância longa. Dessa maneira, DC e DL percorreram distâncias entre 1600-1900 e 2000-2350 metros, respectivamente. Determinaram-se o tempo e as velocidades médias e máximas atingidas (m s-1), bem como a diferença entre as distâncias percorridas (m) entre as corridas oficiais e as sessões. A produção de lactato sanguíneo durante a recuperação foi quantificada. Empregou-se teste t de student para análise não pareada, sendo P≤0,05. Correlacionaram-se os ganhos financeiros (USD) de cada cavalo com afrequência cardíaca de pico (FCpico) atingidas durante as sessões. As distâncias percorridas nos treinos foram maiores em relação às corridas oficiais em 24,7% e 40% para DC e DL, respectivamente. A lactatemia não diferiu entre os grupos. A frequência cardíaca de pico (FCpico) obtida durante as sessões foi menor para o grupo DL. A velocidade que a frequência cardíaca atingiu 200 bpm (V200) foi maior para DL. Houve correlação moderada entre os maiores ganhos financeiros e menores FCpico. Os cavalos que treinaram maiores distâncias durante sessões de treinamento submáximo tiveram melhor condicionamento cardíaco e maior produtividade financeira.

Concentrações sangüíneas de lactato em eqüinos durante a prova de fundo do concurso completo de equitação / Blood lactate concentrations of horses competing in the resistance phase of 3-day combined training event

Colheu-se sangue de 13 eqüinos competindo na prova de Fundo do Concurso Completo de Equitação, categoria internacional três estrelas, e dosou-se lactato sangüíneo na manhã antes da prova, antes e imediatamente depois das fases B e D e 10 minutos após a fase D. Foi observado aumento significativo nas concentrações de lactato apenas após o término da fase D, demonstrando que os animais foram submetidos a um grande esforço físico, com desenvolvimento de acidose metabólica decorrente do acúmulo de lactato. Houve diminuição significativa dos valores dez minutos após o término do cross-country, exceto para o eqüino de número 12, único animal a completar o percurso dentro do tempo estipulado, o qual apresentou sinais clínicos de exaustão.

Histologic alterations of the basement membrane of the dermal and epidermal layers of the hoof in horses with acute laminitis

Fueron estudiadas las características morfológicas de los cascos de dos grupos de equinos. El primer grupo, conformado por cinco animales adultos, sin ninguna alteración clínica, correspondió al grupo control. El siguiente grupo, constituido por siete equinos recibieron 17,6g/kg de carbohidratos por vía oral, para la inducción de laminitis. De este grupo, 71 por ciento desarrolló la sintomatología entre 36 y 48 horas después de la administración del carbohidrato. Pasadas 48 h de la inducción de laminitis, los animales fueron sacrificados y sus miembros fueron retirados para realizar los respectivos estudios histológicos. Se efectuaron cortes histológicos de 5 a 7µm de grosor y, posteriormente, se tiñeron con hematoxilina-eosina (HE) y ácido peryódico de Schiff (PAS) para ser sometidos a microscopía óptica. A través de la coloración de HE, fue posible determinar alteraciones en la arquitectura de las láminas epidérmicas primarias y secundarias, las cuales se presentaron delgadas y anchas, con los núcleos de las células basales de forma arredondada y, eventualmente, localizados en su polo basal. La coloración por el PAS, permitió observar la membrana basal y la matriz proteica, separando las láminas epidérmicas y dérmicas y definiendo la morfología de éstas. En los equinos del grupo con laminitis se observaron deformación y fragmentación de la membrana basal. La utilización del PAS permitió determinar las alteraciones degenerativas graves en la membrana basal, de presentación precoz y coincidiendo con el desarrollo de los signos clínicos de claudicación.