RESUMO
Severe abdominal pain and vomiting are common symptoms in children with pediatric multisystem inflammatory syndrome (PIMS). Mesenteric lymphadenitis and aseptic peritonitis are predominantly reported in cases where acute surgical abdomen was suspected and laparotomy was performed at the early stage of the pandemic. These reports generally discouraged surgeons to perform exploration in COVID-19-related cases and medical management was prioritized. Only a few COVID-19-specific surgical cases with intestinal ischemia were published. Here, we report another case of COVID-19-related intestinal ischemia complicated with Meckel's diverticulitis in a non-immunocompromised child who clearly required surgical intervention. In our case, the combination of COVID-19-related vasculitis and low blood pressure episodes may have contributed to this severe outcome.
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Signal transducer and activator of transcription 3 (STAT-3) gain-of-function (GOF) syndrome is an early-onset monogenic inborn error of immunity characterized by multi-organ autoimmune disorders, growth failure and lymphoproliferation. We describe that STAT-3 GOF syndrome may be presented with hypogammaglobulinemia and recurrent severe upper and lower respiratory tract infections. In addition, the patient had lymphoproliferation, short stature and interstitial lung disease. Chest computerized tomography examinations showed mild bronchiectasis with areas of non-fibrosing alveolar-interstitial disease and maldevelopment of bilateral first ribs. Using Sanger sequencing, we revealed a novel c.508G>C, p.D170H STAT-3 variant affecting the coiled coil domain of STAT-3. Functional studies confirmed that p.D170H was a GOF variant, as shown by increased phosphorylated STAT-3 (pSTAT-3) and STAT-3 transcriptional activity. Our observation suggests that STAT-3 GOF syndrome can manifest in early childhood with hypogammaglobulinemia and recurrent severe respiratory tract infections. We suggest that patients with lymphoproliferation, hypogammaglobulinemia and severe recurrent infections should be screened for STAT-3 variants, even if autoimmune manifestations are missing.
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Agamaglobulinemia/genética , Mutação com Ganho de Função/genética , Transtornos Linfoproliferativos/genética , Infecções Respiratórias/genética , Fator de Transcrição STAT3/genética , Agamaglobulinemia/imunologia , Desenvolvimento Ósseo/genética , Bronquiectasia/genética , Humanos , Masculino , Infecções Respiratórias/imunologia , Infecções Respiratórias/mortalidade , Fator de Transcrição STAT3/metabolismo , Adulto JovemRESUMO
Central nervous system involvement is a rare complication of multiple myeloma with extremely poor prognosis as it usually fails to respond to therapy. We present 13 cases diagnosed at two centers in Budapest and review the current literature. The majority of our cases presented with high-risk features initially; two had plasma cell leukemia. Repeated genetic tests showed clonal evolution in 3 cases. Treatments varied according to the era, and efficacy was poor as generally reported in the literature. Only one patient is currently alive, with 3-month follow-up, and the patient responded to daratumumab-based treatment. Recent case reports show promising effectivity of pomalidomide and marizomib.
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Aneurisma/etiologia , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Artéria Braquial/cirurgia , Veias Braquiocefálicas/cirurgia , Oclusão de Enxerto Vascular/etiologia , Transplante de Rim , Diálise Renal , Extremidade Superior/irrigação sanguínea , Adulto , Aneurisma/diagnóstico por imagem , Aneurisma/fisiopatologia , Aneurisma/cirurgia , Artéria Braquial/diagnóstico por imagem , Artéria Braquial/fisiopatologia , Veias Braquiocefálicas/diagnóstico por imagem , Veias Braquiocefálicas/fisiopatologia , Angiografia por Tomografia Computadorizada , Oclusão de Enxerto Vascular/diagnóstico por imagem , Oclusão de Enxerto Vascular/fisiopatologia , Oclusão de Enxerto Vascular/cirurgia , Humanos , Masculino , Flebografia/métodos , Recidiva , Resultado do TratamentoRESUMO
The authors present a case of a 81-year-old non-smoker woman who was diagnosed with extended, bilateral bronchial adenocarcinoma in 2008. Two years later the tumor showed marked progression. EGFR sensitizing mutation (exon 19 deletion) was detected and gefitinib treatment was started in March 2010. After 12 months of spectacular and complete remission and 8 months of slow progression docetaxel therapy was applied and yielded partial remission. When progression redeveloped rebiopsy was performed and revealed EGFR exon 19 deletion again. Gefitinib retreatment was introduced in February 2013 and resulted in partial remission with excellent clinical status. In March, 2014 the patient is still on gefitinib treatment without any signs or symptoms of lung cancer but with very slow radiological progression. The authors overview the most important theoretical and practical questions regarding rebiopsy and retreatment in lung cancer with EGFR-TKI therapy.
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Adenocarcinoma/diagnóstico , Adenocarcinoma/tratamento farmacológico , Antineoplásicos/uso terapêutico , Biópsia , Neoplasias Brônquicas/diagnóstico , Neoplasias Brônquicas/tratamento farmacológico , Receptores ErbB/antagonistas & inibidores , Receptores ErbB/genética , Deleção de Genes , Quinazolinas/uso terapêutico , Taxoides/uso terapêutico , Adenocarcinoma/genética , Idoso , Idoso de 80 Anos ou mais , Neoplasias Brônquicas/genética , Progressão da Doença , Docetaxel , Éxons , Feminino , Gefitinibe , Genes erbB-1 , Humanos , Terapia de Alvo Molecular/métodos , Indução de Remissão , Retratamento , Resultado do TratamentoRESUMO
Castleman disease (CD), described as a heterogeneous lymphoproliferative disorder, can be divided into different subtypes according to clinical appearance (unicentric and multicentric form) and histopathological features (hyaline vascular, plasma cell, mixed type, human herpesvirus 8-associated and multicentric not otherwise specified). Unicentric CD is known to be usually of the hyaline vascular variant, plasma cell and mixed type of this form are quite uncommon. Malignancies are mainly associated with the multicentric form. We report a rare case of unicentric mixed variant CD evolving into intrabronchial, extramedullary plasmacytoma.Intrabronchial mass with consequential obstruction of the left main bronchus, left lung atelectasis and mediastinal lymphadenomegaly was detected by chest CT in our patient suffering from cough and hemoptysis. Pulmonectomy was performed, histopathological and immunhistochemical analysis of lymph nodes revealed mixed type of CD with interfollicular monotypic plasma cell proliferation. The intrabronchial mass consisted of monotypic plasma cells confirming plasmacytoma. Systemic involvement was not confirmed by further tests.Although malignancies more often present in multicentric CD that usually belongs to the plasma cell subtype, this case confirms the neoplastic potential of the rarest, unicentric mixed variant of CD. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2872096831190851.
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Hiperplasia do Linfonodo Gigante/complicações , Neoplasias Pulmonares/complicações , Plasmocitoma/complicações , Hiperplasia do Linfonodo Gigante/patologia , Comorbidade , Feminino , Refluxo Gastroesofágico/epidemiologia , Infecções por Helicobacter/epidemiologia , Humanos , Leiomioma/epidemiologia , Neoplasias Pulmonares/patologia , Pessoa de Meia-Idade , Obesidade/epidemiologia , Transtorno de Pânico/epidemiologia , Plasmocitoma/patologia , Neoplasias Uterinas/epidemiologiaRESUMO
Aortic root dilatation is present by the age of five years in approximately 35% of patients suffering from Marfan syndrome. However, children rarely undergo surgery for aortic aneurysm and aortic regurgitation during their first decade of life. A nine-year-old boy, who presented with severe aortic regurgitation associated with a 76.8 mm aneurysm of the ascending aorta, underwent a Bentall procedure. Since the aortic annulus was markedly dilated and the cusps were structurally abnormal, the aortic valve was not spared.
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Aorta/cirurgia , Síndrome de Marfan/cirurgia , Aneurisma Aórtico/cirurgia , Insuficiência da Valva Aórtica/etiologia , Insuficiência da Valva Aórtica/cirurgia , Aortografia , Criança , Dilatação Patológica/cirurgia , Próteses Valvulares Cardíacas , Humanos , MasculinoRESUMO
BACKGROUND AND OBJECTIVE: No recent publications are available about pneumococcal meningitis in Hungarian children. The aim of this study was to collect data of epidemiological, clinical and prognostic features of pneumococcal meningitis in children treated at Szent László Hospital, Budapest, Hungary. METHODS: We conducted a retrospective review of medical charts and follow-up records of patients aged 1 to 18 years admitted to our Pediatric and Pediatric Intensive Care Units due to pneumococcal meningitis between 1st Jan 1998 and 30th Jun 2007. RESULTS: 31 children with 34 cases of pneumococcal meningitis were admitted to our hospital in the study period. Two children developed recurrent illness. The mean age was 6 years, 26% were under 1 year of age. The mean duration of hospital stay was 21 days, 97% required intensive care. Frequent clinical symptoms were fever (100%), nuchal rigidity and vomiting (78%), altered mental status (71%), Kernig's and Brudzinski's signs (58%) and seizures (41%). Otitis media, sinusitis, mastoiditis were present in 44%, 58%, 41%, respectively. Subdural effusion, parenchymal cerebral lesion and sinus thrombosis were documented in 5, 3 and 2 cases, respectively. One third of the patients received ceftriaxon, two thirds were administered ceftriaxon and vancomycin. Adjunctive therapy with dexamethasone was given to 91% of the children. 70% of patients required mechanical ventilation. 9 patients (25%) required endoscopic sinus surgery. In 13 cases (38%) mastoidectomy, in 5 children (15%) neurosurgery was performed. The case fatality rate was 23.5%. 8 (23.5%) patients had mild or moderate, 1 child (3%) developed severe neurological sequelae. CONCLUSION: Pneumococcal meningitis in children remains a source of substantial morbidity and mortality in childhood. The long hospital stay, the frequent need for intensive care and severe neurologic sequelae emphasize the importance of early diagnosis, early treatment and prevention with pneumococcal conjugate vaccines.
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Antibacterianos/uso terapêutico , Meningite Pneumocócica/complicações , Meningite Pneumocócica/diagnóstico , Adolescente , Ataxia/microbiologia , Ceftriaxona/uso terapêutico , Criança , Pré-Escolar , Feminino , Seguimentos , Departamentos Hospitalares/estatística & dados numéricos , Humanos , Hungria/epidemiologia , Lactente , Recém-Nascido , Deficiência Intelectual/microbiologia , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Tempo de Internação , Masculino , Prontuários Médicos , Meningite Pneumocócica/tratamento farmacológico , Meningite Pneumocócica/mortalidade , Meningite Pneumocócica/prevenção & controle , Hipotonia Muscular/microbiologia , Vacinas Pneumocócicas/administração & dosagem , Recidiva , Respiração Artificial , Estudos Retrospectivos , Bexiga Urinaria Neurogênica/microbiologia , Vacinas Conjugadas/administração & dosagem , Vancomicina/uso terapêuticoRESUMO
Primary cardiac tumors are rare and often occur without major symptoms. The appropriate therapy for cardiac tumors without metastasis is surgical resection and chemotherapy. However, for certain patients, when the tumor cannot be safely removed, biopsy is recommended since it allows histology examination and further therapeutical considerations. The aim of our case presentation is to describe the case of a 56-year-old woman, in whom cardiac tumor-mass was revealed because of recurrent pericardial fluids. The mass appeared to be non-resectable, therefore biopsy with an eventual histological examination was planned. Intracardiac echocardiography guided percutaneous biopsy was performed. Intracardiac ultrasound ensured accurate localization of the tumor, the catheter-based grasping device and the excision could be instantly monitored. This case demonstrates that an intracardiac ultrasound-guided tumor mass biopsy is a feasible method, which increases accuracy and ensures safety.
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Biópsia/métodos , Ecocardiografia , Neoplasias Cardíacas/diagnóstico , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Humanos , Pessoa de Meia-Idade , Derrame Pericárdico/etiologiaRESUMO
Infection caused by Echinococcus multilocularis is a rare helminthiasis, human cases have not been diagnosed in Hungary until now. The endemic region is Central Europe; the occurrence of this infection has been reported from most of the neighbouring countries; however, E. multilocularis has been found in the red fox population in Hungary. Summarizing the recent knowledge concerning epidemiological, clinical patterns and therapeutic options, the authors describe the first Hungarian case of alveolar echinococcosis. In the presence of appropriate clinical findings, the possibility of this rare infection has to be considered in the differential diagnosis of infiltrative hepatic lesions.
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Equinococose Hepática/diagnóstico , Echinococcus multilocularis/isolamento & purificação , Albendazol/uso terapêutico , Animais , Animais Selvagens , Anti-Helmínticos/uso terapêutico , Diagnóstico Diferencial , Equinococose Hepática/tratamento farmacológico , Equinococose Hepática/epidemiologia , Equinococose Hepática/parasitologia , Equinococose Hepática/cirurgia , Europa (Continente)/epidemiologia , Humanos , Hungria , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Peritônio/parasitologiaRESUMO
The evaluation protocol for liver donors can vary from centre to centre, but the main points are the same. Medical history, physical examination, common laboratory tests and psychosocial evaluation are followed by imaging, and specific haemostasis and viral serology tests. The first imaging examinations have the aim of excluding any disease; conventional chest radiography and abdominal ultrasound are performed. Liver volume, fat content, and vascular and biliary anatomy are then evaluated with contrast-enhanced, multiphase, multidetector row CT/CTA and MR cholangiography. Ultrasound guided liver biopsy, and in some cases digital subtraction angiography, should also be performed. During the first phase of the donor operation, intraoperative investigations are done: cholangiography for the final evaluation of the biliary tree and ultrasound of the hepatic and portal venous system to help draw the resection plane. Donors have regular imaging examinations in the early postoperative period for early detection of complications: mainly US or CT to check the remnant hepatic vascularisation and fluid collections in the operated area, or X-ray for thoracic disorders. It is recommended that regular checkups are performed in the late postoperative period. The paper describes the imaging protocol for donor evaluation applied at our institute at the beginning of our living related liver transplantation programme.
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Transplante de Fígado , Doadores Vivos , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Colangiografia , Diagnóstico por Imagem , Humanos , Hungria , Fígado/diagnóstico por imagem , Fígado/patologia , Monitorização Intraoperatória/métodos , Período Pós-Operatório , Cuidados Pré-Operatórios/métodosRESUMO
Malignant solid tumors and leukemias are the second most common causes of death in childhood. The most frequent pediatric solid tumors are brain tumors. Brain tumors, especially medulloblastoma should be treated by surgery, irradiation and chemotherapy. However, chemotherapy has only moderate effect. Pediatric brain tumors, especially medulloblastomas, express somatostatin receptors. The aim of this study was the investigation of the expression of somatostatin receptors in pediatric brain tumors for diagnostic and therapeutic purpose. Fifty-six scintigraphic imagings (111In-DTPA-D-Phe1-octreotide) made in 45 children treated with brain tumor at the Unit of Oncology of the 2nd Department of Pediatrics, Semmelweis University. The diagnosis was medulloblastoma in 21 cases (46.7%). MRI scans have been performed parallel with the Octreoscan images. Octreoscan images were positive in 27 of 56 (48.2%) cases. The 27 positive Octreoscan images consisted of 16 medulloblastomas, 4 ependymomas, 4 astrocytomas and 3 glioblastomas. In 37 (66.1%) cases the results of Octreoscans were the same as those of the MRI scans. However, in 19 scans (33.9%) the outcome was different. Octreoscan imaging is not suitable for differential diagnosis in pediatric brain tumors, including medulloblastomas. Isotopes specifically binding to the somatostatin receptors (111In-DTPA-D-Phe1-octreotide) can be applied in medulloblastomas for diagnosis and follow-up treatment. In Octreoscan-positive tumors the Octreoscan images establish the opportunity to somatostatin analogue and/or specifically targeted radiation therapies.
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Neoplasias Encefálicas/diagnóstico por imagem , Radioisótopos de Índio , Octreotida/análogos & derivados , Ácido Pentético/análogos & derivados , Receptores de Somatostatina/metabolismo , Adolescente , Astrocitoma/diagnóstico por imagem , Criança , Pré-Escolar , Ependimoma/diagnóstico por imagem , Feminino , Glioblastoma/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Meduloblastoma/diagnóstico por imagem , Cintilografia , Compostos RadiofarmacêuticosRESUMO
Erdheim-Chester's disease is a rare multisystem xanthogranulomatosis, afflicting the skeletal system with the occasional involvement of soft tissues. We delineate an unusual case of a cardiac variant of Erdheim-Chester's disease presenting with pericardial effusion and as a collision with a synchronous orbital manifestation. We describe our diagnostic pathway and propose a novel treatment option involving nonsteroidal anti-inflammatory drugs. The role of cyclo-oxygenase in the disease process and inhibition thereof by NSAIDs is hypothesized and discussed.
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Inibidores de Ciclo-Oxigenase 2/uso terapêutico , Doença de Erdheim-Chester/tratamento farmacológico , Cardiopatias/tratamento farmacológico , Doenças Orbitárias/tratamento farmacológico , Pirazóis/uso terapêutico , Sulfonamidas/uso terapêutico , Celecoxib , Doença de Erdheim-Chester/diagnóstico , Cardiopatias/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Orbitárias/diagnósticoRESUMO
The authors analyzed their data of the last three and a half years about patients with temporary loop ileostomy. We formed 18 ileostomies in patients with rectum carcinoma where the anastomosis was performed in the mid or lower rectum. Ten ileostomies were formed because of anastomotic leak, eight to protect the anastomosis, although there were no signs of insufficiency at the time of the intraoperative testing. Sixteen of the 18 patients had no complications. There were two complications in connection with ileostomies, these stomas were closed earlier than usual. Two other patients needed permanent stomas. Fourteen ileostomies were reversed without complications after 6-8 weeks. Two patients with local septic complications, following the closure, were treated conservatively. No reoperations were needed because of anal incontinence or anastomotic stenosis. We consider loop ileostomy safe with low morbidity, it can prevent diffuse peritonitis and/or a permanent stoma. Its routine use is recommended in patients with "ultra low" anastomoses and in cases where the intraoperative air test is positive.
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Ileostomia , Neoplasias Retais/complicações , Neoplasias Retais/cirurgia , Deiscência da Ferida Operatória/prevenção & controle , Deiscência da Ferida Operatória/cirurgia , Anastomose Cirúrgica/métodos , Humanos , Estudos Retrospectivos , Deiscência da Ferida Operatória/etiologiaRESUMO
Since the first successful repair of aortic coarctation by Dr Clarence Crafoord in 1945, there are few data regarding late follow-up of homografts in this position. Between 1957 and 1959, 7 patients underwent surgical correction of aortic coarctation by Professor József Kudász at the Department of Cardiovascular Surgery, Semmelweis University, using freeze-dried aortic homograft. We were able to locate 4 of these patients and found no significant complications due to the operation. We report on this 40-year follow-up of implanted aortic homograft.
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Coartação Aórtica/cirurgia , Artérias/transplante , Complicações Pós-Operatórias/etiologia , Adolescente , Adulto , Coartação Aórtica/história , Aortografia , Criança , Feminino , Seguimentos , História do Século XX , Humanos , Masculino , Complicações Pós-Operatórias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Transplante Homólogo , Resultado do TratamentoRESUMO
INTRODUCTION: Primary hyperparathyroidism causes elevated serum calcium level and osteopenia in most patients. AIMS: The authors measured the changes of calcium and bone mineral metabolism after parathyroidectomy in patients with primary hyperparathyroidism. PATIENTS: From 1995 to 2000, osteopenia was detected in 34 patients with primary hyperparathyroidism before surgery. There were 26 females (16 women were post-menopausal) and 8 males. The mean age of the patients was 54 years (range 19 to 64). The serum levels of calcium, phosphorus, alkaline phosphatase and the parathyroid hormone were measured before the operation and every year thereafter. Bone densitometry was performed at the lumbar spine (L II-IV) during the same period. RESULTS: The mean levels of calcium and parathyroid hormone rapidly decreased and varied in the normal range after the operation. The mean alkaline phosphatase concentrations also decreased after surgery, but in most cases the difference was not statistically significant. Bone densitometry showed increased bone mineral density at the lumbar spine (L II-IV) after the parathyroidectomy. One, 2, 3, 4 and 5 years after surgery the bone mineral density increased with 8.5%, 12.5%, 14.1%, 13.5% and 11.3% compared to the preoperative value respectively. The changes in bone mineral density values were not statistically significant 1 year after parathyroidectomy. The increase in the bone mineral density was significant two years after the operation. Nine patients had T-scores less than -2.5 before parathyroidectomy. CONCLUSION: The authors conclude, that the serum levels of calcium and parathyroid hormone significantly decreased after the parathyroidectomy in primary hyperparathyroidism. After successful surgical treatment the bone mineral density significantly increases and the osteopenia decreases or resolves.