Database : MEDLINE
Search on : C04.445.435 [DeCS Category]
References found : 930 [refine]
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PMID:29020597
Author:Barrios DM; LaDuca JR
Address:State University of New York Upstate Medical University, Syracuse, NY dulcebarriosms@gmail.com.
Title:Lingual Papillomas.
Source:N Engl J Med; 377(15):e22, 2017 Oct 12.
ISSN:1533-4406
Country of publication:United States
Language:eng
Publication type:CASE REPORTS; JOURNAL ARTICLE


  2 / 930 MEDLINE  
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PMID:28644064
Author:Somagawa C; Ono T; Honda R; Baba H; Hiu T; Ushijima R; Toda K; Sato K; Ito M; Tsutsumi K
Address:Residency Program.
Title:Frequent vomiting attacks in a patient with Lhermitte-Duclos disease: a rare pathophysiology of cerebellar lesions?
Source:J Neurosurg Pediatr; 20(3):298-301, 2017 Sep.
ISSN:1933-0715
Country of publication:United States
Language:eng
Abstract:Lhermitte-Duclos disease (LDD) is a neurological disease caused by a hamartomatous lesion in the cerebellum. Clinically, LDD is commonly associated with progressive space-occupying lesion effects in the posterior fossa, increasing intracranial pressure, occlusive hydrocephalus, and focal neurological deficits of adjacent structures. The authors report the case of a 10-year-old boy with LDD who had been suffering from vomiting attacks (VAs). These VAs had been brief in duration but extremely frequent, and they had been resistant to antiemetic drugs since the early postnatal period. Magnetic resonance imaging at 8 months of age revealed a right cerebellar lesion with very little space-occupying lesion effect, but the causal relationship with VAs was not evident at that point, because no clinical symptoms or signs other than vomiting were suggestive of increased intracranial pressure. The VAs were initially diagnosed as autonomic ataxia and had been treated with antiemetic drugs for approximately 10 years, but the patient's symptoms were not improved at all in frequency or duration. He developed convulsive seizures at 9 years of age and was referred to the authors' epilepsy center. The VAs were initially speculated to represent an aspect of seizures, but antiepileptic agents proved ineffective against this symptom despite remission of convulsive seizures. Video-electroencephalography monitoring did not show any evolving ictal patterns associated with the vomiting. Careful reevaluation of MRI studies revealed that the cerebellar lesion was fused with the cerebellum, middle and inferior cerebellar peduncles, and dorsolateral medulla oblongata with some distortion. FDG-PET identified hypermetabolism in the cerebellar lesion. After establishing the diagnosis of LDD, the authors performed subtotal resection of the lesion based on the likelihood of a causal relationship between the cerebellar lesion and the vomiting center of the medulla oblongata. Postoperatively and for 2 years, VAs have remained completely suppressed. The authors hypothesize that the pathophysiology of VAs in LDD includes a tumor-like space-occupying effect on the vomiting center of the medulla oblongata, and even partial resection of the lesion may prove effective.
Publication type:CASE REPORTS; JOURNAL ARTICLE


  3 / 930 MEDLINE  
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PMID:28479525
Author:Jiang T; Wang J; Du J; Luo S; Liu R; Xie J; Wang Y; Li C
Address:Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Title:Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up.
Source:World Neurosurg; 104:398-406, 2017 Aug.
ISSN:1878-8769
Country of publication:United States
Language:eng
Abstract:BACKGROUND: Adult-onset Lhermitte-Duclos disease (LDD) and Cowden syndrome (CS) are considered a single phakomatosis that belongs to PTEN hamartoma tumor syndrome (PHTS) now. There is still controversy regarding the diagnosis and treatment. The authors describe the clinical features of LDD and CS with long-term follow up. METHODS: From January 2001 to January 2017, 18 patients were admitted to the neurosurgery department of Beijing Tiantan Hospital. The authors analyzed the medical records of each patient and followed every case. RESULTS: Seventeen of 18 patients underwent surgery to remove the tumor. The results of pathologic analysis revealed LDD. There was obvious enhancement on magnetic resonance imaging (MRI) in 2 patients who received gamma knife and radiotherapy before surgery. During surgery, it is difficult to determine the exact margin. Tumors were removed gross totally in 9 patients, partially in 6 patients, and only subtotally in 2 patients. CS was diagnosed in 11 patients. Two patients received DNA analysis, revealing heterozygous mutation of exon 5 in an 11-year-old girl. There was no recurrence of the tumor during follow-up. CONCLUSIONS: LDD has the unique appearance on T2-weighted MRI. The most difficult aspect of surgery is determining the actual margins of the tumor. Total resection is difficult in some patients. There was no tumor recurrence after long-term follow-up in our case series. For pediatric LDD patients, DNA analysis should be performed to rule out CS.
Publication type:CASE REPORTS; JOURNAL ARTICLE


  4 / 930 MEDLINE  
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PMID:28415058
Author:Nishi K; Murai S; Itami H; Otsuka S; Kusaka N; Nishiura T; Kimura N; Ogihara K
Address:Department of Neurosurgery, National Hospital Organization Iwakuni Clinical Center.
Title:[A Case of Arteriovenous Malformation of the Parotid Gland Associated with Cowden Disease].
Source:No Shinkei Geka; 45(4):333-338, 2017 Apr.
ISSN:0301-2603
Country of publication:Japan
Language:jpn
Abstract:We report a rare case of arteriovenous malformation(AVM)of the parotid gland associated with Cowden disease successfully treated with preoperative embolization followed by surgical removal. A 39-year-old man with a history of Cowden disease presented with a pulsating and growing mass on his left lower jaw. Contrast-enhanced computed tomography(CT)and angiography revealed a high-flow AVM in the deep lobe of the left parotid gland. After intravascular embolization of the feeding arteries, surgery was performed using the NIM-response®3.0, facial nerve monitoring system. The AVM was almost completely removed and the facial nerves were morphologically preserved. Interestingly, the intraoperative findings revealed that the enlarged vasa nervorum of the facial nerve also fed the AVM. Although left facial nerve palsy appeared after the surgery, the nerve function gradually improved over one year. No recurrence of the AVM has been observed for one year.
Publication type:CASE REPORTS; JOURNAL ARTICLE


  5 / 930 MEDLINE  
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PMID:28392289
Author:Kuo KY; Batra P; Cho HG; Li S; Chahal HS; Rieger KE; Tang JY; Sarin KY
Address:Department of Dermatology, Stanford University School of Medicine, Stanford, California.
Title:Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution.
Source:J Am Acad Dermatol; 77(2):233-234.e2, 2017 08.
ISSN:1097-6787
Country of publication:United States
Language:eng
Publication type:LETTER


  6 / 930 MEDLINE  
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PMID:28315423
Author:Olofson A; Marotti J; Tafe LJ; Linos K
Address:Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr, Lebanon, NH 03756, USA.
Title:Intranodal meningothelial proliferation in a patient with Cowden syndrome: a case report.
Source:Hum Pathol; 66:183-187, 2017 Aug.
ISSN:1532-8392
Country of publication:United States
Language:eng
Abstract:Ectopic meningothelial proliferations are rare and can occur in a multitude of extracranial/spinal anatomic locations. Perineurioma is another uncommon entity that shares similar histological characteristics to those found in meningothelial proliferations. These include bland spindle cells with thin, bipolar nuclei; eosinophilic cytoplasm; and indistinct cell borders, arranged in short fascicles with whorl formation. Given their uncommon occurrence and shared histological and immunohistochemical features, their distinction can present a diagnostic challenge. Immunohistochemical studies can provide guidance when attempting to distinguish between these 2 lesions. Here, we present an unusual case of a patient with Cowden syndrome who was discovered to have a meningothelial proliferation within an axillary lymph node. To the best of our knowledge, this is the first case in which a meningothelial proliferation has been identified in a lymph node. Furthermore, the occurrence in a patient with Cowden syndrome is intriguing and raises the possibility of a pathogenetic link.
Publication type:CASE REPORTS; JOURNAL ARTICLE
Name of substance:0 (Biomarkers, Tumor)


  7 / 930 MEDLINE  
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PMID:28286253
Author:Saletti V; Esposito S; Maccaro A; Giglio S; Valentini LG; Chiapparini L
Address:Developmental Neurology Division, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy. Electronic address: veronica.saletti@istituto-besta.it.
Title:Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
Source:Eur J Med Genet; 60(5):261-264, 2017 May.
ISSN:1878-0849
Country of publication:Netherlands
Language:eng
Abstract:PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction. We suppose that the association between PHTS and CIM could be not coincidental, thus extending the spectrum of neurological manifestations of PHTS and highlighting the role of brain MRI in the management of PHTS patients. We suggest that genes within the RAS-MAPK and PI3-AKT pathways might have a significant role in the pathogenesis of CIM in such patients.
Publication type:CASE REPORTS; JOURNAL ARTICLE
Name of substance:EC 3.1.3.67 (PTEN Phosphohydrolase); EC 3.1.3.67 (PTEN protein, human)


  8 / 930 MEDLINE  
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PMID:28260709
Author:Sakamoto H; Yano T; Sunada K
Address:Department of Medicine, Division of Gastroenterology, Jichi Medical University.
Title:Hamartomatous polyposis.
Source:Nihon Shokakibyo Gakkai Zasshi; 114(3):422-430, 2017.
ISSN:0446-6586
Country of publication:Japan
Language:jpn
Publication type:JOURNAL ARTICLE


  9 / 930 MEDLINE  
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PMID:28164237
Author:Yu W; Ni Y; Saji M; Ringel MD; Jaini R; Eng C
Address:Genomic Medicine Institute.
Title:Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.
Source:Hum Mol Genet; 26(7):1365-1375, 2017 Apr 01.
ISSN:1460-2083
Country of publication:England
Language:eng
Abstract:Thyroid cancer is a major component cancer of Cowden syndrome (CS), a disorder typically associated with germline mutations in PTEN. Germline variants in succinate dehydrogenase genes (SDHx) co-occurring with PTEN germline mutations confer a 2-fold increased prevalence (OR 2.7) of thyroid cancer compared to PTEN-associated CS but 50% decreased prevalence (OR 0.54) of thyroid cancer compared to SDHx-associated CS. We have previously shown that CS-associated SDHD variants G12S and H50R induce PTEN oxidation and nuclear accumulation in thyroid cancer. Our current study shows that SDHD-G12S and -H50R variants cause down-regulation of autophagy, demonstrating a role for SDHD in autophagy-associated pathogenesis of differentiated thyroid cancer. These findings could explain the increased prevalence of thyroid cancer in CS patients with SDHx germline mutations compared to those with PTEN mutations alone. Importantly, we demonstrate the dependence of this process on functional wild-type PTEN with reversal of decreased autophagy after PTEN knockdown. The latter could explain the clinically observed decrease in thyroid cancer prevalence in patients with co-existent PTEN mutations and SDHx variants. We also show that SDHD-G12S/H50R promotes mono-ubiquitination of PTEN, causing its translocation into the nucleus, upregulation of AKT and consequent phosphorylation of FOXO3a. Furthermore, SDHD-G12S/H50R-mediated increase in acetylation of FOXO3a further enhances AKT-associated phosphorylation of FOXO3a. This combination of phosphorylation and acetylation of FOXO3a results in its nuclear export for degradation and consequent down-regulation of FOXO3a-target autophagy-related gene (ATG) expression. Overall, our study reveals a novel mechanism of crosstalk amongst SDHD, PTEN and autophagy pathways and their potential roles in thyroid carcinogenesis.
Publication type:JOURNAL ARTICLE
Name of substance:0 (FOXO3 protein, human); 0 (Forkhead Box Protein O3); 0 (Intracellular Signaling Peptides and Proteins); 0 (SDHD protein, human); EC 1.3.99.1 (Succinate Dehydrogenase); EC 2.7.11.1 (Autophagy-Related Protein-1 Homolog); EC 2.7.11.1 (Oncogene Protein v-akt); EC 2.7.11.1 (ULK1 protein, human); EC 3.1.3.67 (PTEN Phosphohydrolase); EC 3.1.3.67 (PTEN protein, human)


  10 / 930 MEDLINE  
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PMID:28137902
Author:Gama I; Almeida L
Address:Ophthalmology Department, University Hospital Santa Maria, North Lisbon Hospital Center, Lisbon, Portugal.
Title:Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.
Source:BMJ Case Rep; 2017, 2017 Jan 30.
ISSN:1757-790X
Country of publication:England
Language:eng
Abstract:A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.
Publication type:CASE REPORTS; JOURNAL ARTICLE



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