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1.
bioRxiv ; 2023 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-37662289

RESUMO

Metastasis is the principal cause of cancer death, yet we lack an understanding of metastatic cell states, their relationship to primary tumor states, and the mechanisms by which they transition. In a cohort of biospecimen trios from same-patient normal colon, primary and metastatic colorectal cancer, we show that while primary tumors largely adopt LGR5 + intestinal stem-like states, metastases display progressive plasticity. Loss of intestinal cell states is accompanied by reprogramming into a highly conserved fetal progenitor state, followed by non-canonical differentiation into divergent squamous and neuroendocrine-like states, which is exacerbated by chemotherapy and associated with poor patient survival. Using matched patient-derived organoids, we demonstrate that metastatic cancer cells exhibit greater cell-autonomous multilineage differentiation potential in response to microenvironment cues than their intestinal lineage-restricted primary tumor counterparts. We identify PROX1 as a stabilizer of intestinal lineage in the fetal progenitor state, whose downregulation licenses non-canonical reprogramming.

2.
Arch Pediatr ; 28(3): 204-208, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33715930

RESUMO

BACKGROUND: Tuberous sclerosis (TS) is an autosomal dominant and hereditary disorder. Cardiac rhabdomyoma and arrhythmias are the most deleterious risk factors linked to TS. Although arrhythmias in pediatric patients with TS who have cardiac rhabdomyoma have been frequently reported, arrhythmia in patients who have TS without rhabdomyoma is rarely reported in the literature. The study aimed to assess the susceptibility of pediatric patients who have TS without cardiac rhabdomyoma to cardiac arrhythmia using electrocardiographic (ECG) markers. METHODS: This prospective study included 10 patients who had TS without cardiac rhabdomyoma. The control group was made up of 30 healthy children of the same age and sex as the patient group. P wave, P wave dispersion, QT dispersion, QTc dispersion, TP-e interval, and TP-e interval dispersion were calculated on 12-lead surface ECGs for each patient in both groups and compared. RESULTS: P wave, P wave dispersion, QT dispersion, and QTc dispersion were found to be significantly higher in the patient group (P<0.001). Furthermore, patients had a greater Tp-e interval and Tp-e interval dispersion than healthy children (P<0.001). CONCLUSION: Pediatric patients with TS without cardiac rhabdomyoma might be prone to atrial and ventricular arrhythmias according to their prolonged ECG markers. Our findings suggest that patients with TS without cardiac rhabdomyoma need close monitoring for atrial and ventricular arrhythmias.


Assuntos
Arritmias Cardíacas/diagnóstico , Eletrocardiografia , Esclerose Tuberosa/complicações , Adolescente , Arritmias Cardíacas/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Neoplasias Cardíacas , Humanos , Lactente , Masculino , Estudos Prospectivos , Rabdomioma
3.
Eur Rev Med Pharmacol Sci ; 16(9): 1305-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23047518

RESUMO

Dural arteriovenous fistulas (DAVF) are rare and constitute 10% to 15% of all intracranial arteriovenous malformations. Only few cases of DAVFs are reported in children. Here is the first case report describing CT angiographic findings in a 14 year old child having multiple DAVFs involving spinal canal, both cavernous and cerebral sinuses.


Assuntos
Seio Cavernoso/anormalidades , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Angiografia Cerebral/métodos , Cavidades Cranianas/anormalidades , Tomografia Computadorizada por Raios X/métodos , Seios Transversos/anormalidades , Adolescente , Seio Cavernoso/diagnóstico por imagem , Cavidades Cranianas/diagnóstico por imagem , Humanos , Masculino , Seios Transversos/diagnóstico por imagem
4.
Eur Rev Med Pharmacol Sci ; 16(9): 1301-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23047517

RESUMO

Neurofibromatosis type 1 (NF1) (von Recklinghausen disease) is an autosomal dominantly inherited neurocutaneous disorder which affects many systems like ocular, cutaneous and nervous systems and seen in 1:3500 births. Cardinal diagnostic criteria of NF1 were established in 1987 by National Institutes of Health Consensus.Early diagnosis and the findings of NF1 are unclear in childhood, but with age the clinical symptoms become apparent. NF1 is occasionally associated with mental retardation.In this report, together a review of the literature, we present a quite elderly patient, 79-year-old-man, with NF1 suffering from metastatic malignant peripheral nerve sheath tumor in the axillary lymph node invading the brachial plexus and pleura. Moreover, this enormous metastatic mass had restricted movement of the extremity. He had multiple neurofibromas of different sizes almost covering his entire body, massively. To the best of our knowledge, our patient's malignant peripheral nerve sheath tumor and massive neurofibromatosis is a rare case to present in the eighth decade of life.


Assuntos
Neoplasias de Bainha Neural/patologia , Neurofibromatose 1/patologia , Idoso , Humanos , Masculino , Neoplasias de Bainha Neural/cirurgia , Neurofibromatose 1/cirurgia
5.
Eur Rev Med Pharmacol Sci ; 16(3): 418-21, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22530361

RESUMO

Rhinophyma is a subtype of rosacea which develops at the advanced stage of rosacea and is characterized by an excessive enlargement of the sebaceous glands. Its etiology is not well-defined beyond the following usual suspects: vitamin deficiencies, stress, hormonal factors and the Demodex folliculorum mite. Carcinoma may develop in rhinophyma patients. The first surgical process for rhinophyma was applied by Daniel Sennert in 1629. The ideal surgical method for treatment of rhinophyma is still unclear and controversial. Massive bleeding makes a controlled excision of the mass impossible, which contributes to the recurrence of rhinophyma. In this case, we combined trichloroacetic acid (TCA 45%) with dermabrasion, a treatment which hasn't been reported previously. Our method was suggested by the Mohs micrographic surgery technique, which employs serial excisions.


Assuntos
Dermabrasão/métodos , Hemorragia/terapia , Cirurgia de Mohs/métodos , Rinofima/terapia , Idoso de 80 Anos ou mais , Anestesia Local , Cáusticos/uso terapêutico , Hemorragia/etiologia , Humanos , Masculino , Nariz/cirurgia , Rinofima/complicações , Prevenção Secundária , Transplante de Pele , Ácido Tricloroacético/uso terapêutico
6.
Eur Rev Med Pharmacol Sci ; 15(11): 1339-42, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22195370

RESUMO

Intraosseous lipoma is an uncommon mesenchymal tumor that is frequently found in appendecular skeleton. In extremely rare conditions, it can appear in sphenoid bone, and only 2 cases have been described in literature until now. We present a case of lipoma in the body of the sphenoid bone mimicking sphenoid sinus tumor. A 16-year-old man presented to Department of Otorhinolaryngology with a complaint of nonspecific headache. There were any clinical findings on physical examination. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed and the diagnosis was made on these imaging findings. Other diagnostic technique, invasive histopathological assessment was not necessary. To our knowledge, this is the first case of lipoma in the body of the sphenoid bone with indentation to sphenoid sinus. The patient has been followed-up radiologically without the need for surgery for two years.


Assuntos
Neoplasias Ósseas/diagnóstico , Lipoma/diagnóstico , Neoplasias Cranianas/diagnóstico , Osso Esfenoide/patologia , Seio Esfenoidal/patologia , Adolescente , Neoplasias Ósseas/complicações , Cefaleia/etiologia , Humanos , Lipoma/complicações , Lipoma/patologia , Imageamento por Ressonância Magnética , Masculino , Neoplasias Cranianas/complicações , Neoplasias Cranianas/patologia , Tomografia Computadorizada por Raios X , Conduta Expectante
7.
Eur Rev Med Pharmacol Sci ; 15(10): 1207-11, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22165684

RESUMO

BACKGROUND: Reduction mammoplasty (RM) is one of the most commonly performed plastic surgery procedures to treat symptomatic macromasty or to correct asymmetry. Occult breast carcinomas were rarely defined in RM specimens. There are few studies aiming to define the incidence of non-proliferative and precancerous lesions. MATERIAL AND METHODS: We evaluated the pathological findings of the RM specimens that have been submitted to our Center for the last 6 years (2005-2011). RESULTS: A total of 273 cases with bilateral RM were enrolled to the study. Of them, 229 cases had pathological changes. Eight cases (2.9%) had atypical ductal/lobular hyperplasia. One case (0.3%) had lobular carcinoma in situ; however, no invasive breast carcinoma was detected. Other pathological findings included fibrocystic changes, fibrosis, adenosis, fibroadenoma (without complex features), mastitis and duct ectasia. CONCLUSIONS: Pathological examination of the RM specimens is quite important to define the lesions precancerous of breast carcinoma. Unknown occult breast lesions could be identified and early interventions may be taken into account.


Assuntos
Mamoplastia , Lesões Pré-Cancerosas/epidemiologia , Adolescente , Adulto , Idoso , Feminino , Humanos , Incidência , Pessoa de Meia-Idade , Lesões Pré-Cancerosas/patologia , Estudos Retrospectivos
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