1,580 results match your criteria Cowden Disease Multiple Hamartoma Syndrome


Medical decision-making in progressive supranuclear palsy: A comparison to other neurodegenerative disorders.

Parkinsonism Relat Disord 2018 Nov 26. Epub 2018 Nov 26.

Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Alzheimer's Disease Center, University of Alabama at Birmingham, Birmingham, AL, USA; Evelyn F. McKnight Brain Institute, University of Alabama at Birmingham, Birmingham, AL, USA; Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.

Introduction: Cognitive dysfunction is common in progressive supranuclear palsy (PSP) but its effect on medical decision-making has not been well studied. To address this gap in the research literature, we compared the medical decision-making capacity of patients with PSP to groups of patients with other neurodegenerative disorders. We also investigated the cognitive correlates of medical decision-making in our PSP sample. Read More

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November 2018
4 Reads

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
9 Reads

Improving Medication History at Admission Utilizing Pharmacy Students and Technicians: A Pharmacy-Driven Improvement Initiative.

P T 2018 Nov;43(11):676-684

Background: Because of the frequency of medication errors related to care transitions, patient-safety initiatives have recently focused on improving the patient medication list. Pharmacy student and technician participation in the medication-history process has been shown to improve the quality of medication histories. To improve patient care, a pharmacy-driven medication-history service utilizing a unique hybrid team of pharmacy students and technicians was launched at Inova Loudoun Hospital (ILH). Read More

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November 2018

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy.

NMC Case Rep J 2018 Oct 13;5(4):83-85. Epub 2018 Sep 13.

Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan.

We report the case of a patient with a spinal extradural arteriovenous fistula (AVF) associated with Cowden syndrome (CS) that was successfully treated by endovascular surgery. CS is an autosomal dominant disorder associated with diverse symptoms caused by a deleterious mutation in the phosphatase and tensin homolog () gene. A 67-year-old woman was diagnosed with CS based on her medical history of multiple cancers for which she underwent abdominal surgery, macrocephaly, Lhermitte-Duclos disease, and facial papules. Read More

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October 2018
6 Reads

Variable expressivity and novel PTEN mutations in Cowden syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Sep 7. Epub 2018 Sep 7.

Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.

Cowden syndrome (CS) is a phosphatase and tensin homolog gene (PTEN)-associated condition characterized by multiple mucocutaneous hamartomas and an increased risk of malignancies. We reported an isolated case and another of several individuals in one family affected by CS. The isolated case showed typical features, including fibrocystic breast disease, benign thyroid nodules, and multiple papillomatous lesions in the face and oral cavity, and the cause was a novel nonsense mutation-guanine (G) to thymine (T) transition at position 940 (c. Read More

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September 2018
1 Read

The Complexities of Assessing Language and Interpreter Preferences in Pediatrics.

Health Equity 2018 1;2(1):70-73. Epub 2018 May 1.

Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.

Providing patients, parents, and families high-quality healthcare in the language of their choice is a fundamental component of patient-centered care in pediatric settings. However, language needs may be complex and dynamic, creating clinical and ethical challenges in cases of provider-parent discordance regarding the need for an interpreter. In this perspectives article, we use a clinical encounter as a foundation to discuss the intricacies of addressing language needs in pediatrics. Read More

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May 2018
1 Read

KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells.

Cell Death Discov 2018 11;4:31. Epub 2018 Sep 11.

1Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195 USA.

KLLN is a target of p53 involved in S-phase cell cycle regulation deemed necessary and sufficient for p53-mediated apoptosis. Germline promoter hypermethylation of is associated with a cancer-predisposition syndrome, Cowden syndrome. KLLN's DNA-binding ability is associated with transcription regulation and maintenance of genomic stability. Read More

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September 2018

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Front Genet 2018 31;9:353. Epub 2018 Aug 31.

INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Université Clermont Auvergne, Clermont-Ferrand, France.

A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma, bilateral clear cell renal carcinoma (RC), and follicular variant of papillary thyroid carcinoma. The proband's parent developed orbital lymphoma and small intestine mucosa-associated lymphoid tissue (MALT) lymphoma between 40 and 50 years old. Whole-exome-sequencing (WES) of the nuclear family (proband, parents, and sibling) identified in the proband a deleterious heterozygous mutation c. Read More

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August 2018
1 Read

Porcine sapovirus Cowden strain enters LLC-PK cells via clathrin- and cholesterol-dependent endocytosis with the requirement of dynamin II.

Vet Res 2018 Sep 17;49(1):92. Epub 2018 Sep 17.

Laboratory of Veterinary Pathology, College of Veterinary Medicine, Chonnam National University, Gwangju, Republic of Korea.

Caliciviruses in the genus Sapovirus are a significant cause of viral gastroenteritis in humans and animals. However, the mechanism of their entry into cells is not well characterized. Here, we determined the entry mechanism of porcine sapovirus (PSaV) strain Cowden into permissive LLC-PK cells. Read More

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September 2018
7 Reads

A Nonpump Function of Sodium Iodide Symporter in Thyroid Cancer via Cross-talk with PTEN Signaling.

Cancer Res 2018 Nov 14;78(21):6121-6133. Epub 2018 Sep 14.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

The sodium iodide symporter (NIS) is a classical iodide pump typically localized within the cell plasma membrane in thyroid cells, where NIS expression is believed to ensure success of mainstay radioiodide therapy in thyroid cancers. Although radioiodide uptake is generally reduced in thyroid cancer tissue, intracellular nonmembranous NIS has been reported to increase, suggesting that NIS serves a pump-independent function. Thyroid cancer is one of the major component cancers of Cowden syndrome, a subset of which is caused by germline mutations in In this study, we explored the noncanonical tumorigenic role of NIS in thyroid cancer cells in relation to PTEN signaling. Read More

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November 2018
2 Reads

Association between emergency physician self-reported empathy and patient satisfaction.

PLoS One 2018 13;13(9):e0204113. Epub 2018 Sep 13.

Department of Emergency Medicine, Integrative Emergency Services, John Peter Smith Health Network, Fort Worth, TX, United States of America.

Background: Higher physician self-reported empathy has been associated with higher overall patient satisfaction. However, more evidence-based research is needed to determine such association in an emergent care setting.

Objective: To evaluate the association between physician self-reported empathy and after-care instant patient-to-provider satisfaction among Emergency Department (ED) healthcare providers with varying years of medical practice experience. Read More

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September 2018
1 Read

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.

BMC Med Genet 2018 Sep 4;19(1):158. Epub 2018 Sep 4.

King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.

Background: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome.

Case Presentation: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p. Read More

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September 2018
2.080 Impact Factor

Increased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI.

Clin Nucl Med 2018 Oct;43(10):e355-e356

From the Departments of Nuclear Medicine, and.

A 62-year-old woman, with the history of breast and colorectal cancer, presented intermittent diplopia. A cerebellar lesion was revealed by F-FDG PET-MRI without post-gadolinium enhancement, but with increased perfusion and strong F-FDG uptake. The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation. Read More

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October 2018
7 Reads

Cowden Syndrome: A Cause of Pulmonary Cysts.

J Thorac Imaging 2018 Nov;33(6):W48-W50

Mayo Clinic, Rochester, MN.

Objective: To describe the pulmonary imaging findings in patients with Cowden syndrome (CS).

Materials And Methods: A retrospective review identified all patients with CS who underwent dedicated computed tomography examinations of the chest at our institution between January 2000 and October 2017. Patient demographics and imaging characteristics were identified through a review of the electronic medical record and relevant imaging. Read More

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November 2018
1 Read

HIV Prevention in Adolescents and Young People in the Eastern and Southern African Region: A Review of Key Challenges Impeding Actions for an Effective Response.

Open AIDS J 2018 19;12:53-67. Epub 2018 Jul 19.

UNICEF, Eastern and Southern Africa Regional Office, Nairobi, Kenya.

The global commitment to ending the AIDS epidemic by 2030 places HIV prevention at the centre of the response. With the disease continuing to disproportionately affect young populations in the Eastern and Southern African Region (ESAR), particularly adolescent girls and young women, reducing HIV infections in this group is integral to achieving this ambitious target. This paper examines epidemiological patterns of the HIV epidemic among adolescents and young people, indicating where HIV prevention efforts need to be focused (, adolescent girls and young women, adolescent boys and young men and young key populations). Read More

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Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

Neurol Clin Pract 2018 Jun;8(3):207-213

Departments of Clinical Genomics (RD), Neurology (RD, ABP), and Radiology (Division of Neuroradiology) (LSH, JMH), Mayo Clinic, Phoenix, AZ; Department of Radiology (Division of Neuroradiology) (SMW), Mayo Clinic, Jacksonville, FL; and Department of Radiology (Division of Neuroradiology) (CPW), Mayo Clinic, Rochester, MN.

Background: We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort.

Methods: Electronic medical records were queried from January 1999 to January 2017 to identify patients who fit the clinical criteria for diagnosis of Cowden syndrome with or without a documented mutation. Patients with brain MRI examinations were then identified. Read More

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June 2018
11 Reads

Undifferentiated pleomorphic sarcoma in a patient with Cowden syndrome after radiotherapy for breast cancer.

J Dermatol 2018 Jul 26. Epub 2018 Jul 26.

Department of Internal Medicine, Toyama Prefectural Central Hospital, Toyama, Japan.

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July 2018
2 Reads

Feline calicivirus- and murine norovirus-induced COX-2/PGE2 signaling pathway has proviral effects.

PLoS One 2018 18;13(7):e0200726. Epub 2018 Jul 18.

Laboratory of Veterinary Pathology, College of Veterinary Medicine, Chonnam National University, Gwangju, Republic of Korea.

Cyclooxygenases (COXs)/prostaglandin E2 (PGE2) signaling pathways are known to modulate a variety of homeostatic processes and are involved in various pathophysiological conditions. COXs/PGE2 signaling pathways have also been demonstrated to have proviral or antiviral effects, which appeared different even in the same virus family. A porcine sapovirus Cowden strain, a member of genus Sapovirus within the Caliciviridae family, induces strong COX-2/PGE2 but transient COX-1/PGE2 signaling to enhance virus replication. Read More

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July 2018
8 Reads

Gastrointestinal: Multiple venous malformations and polyps of the small intestine in Cowden syndrome.

J Gastroenterol Hepatol 2018 Nov 27;33(11):1819. Epub 2018 Jun 27.

Kyushu University, Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Fukuoka, Japan.

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November 2018

Cowden Syndrome Associated with Severe Periodontal Disease: A Short Literature Review and a Case Report.

Oral Health Prev Dent 2018;16(3):225-232

Purpose: The aim of this literature review and case report was to point out the relationship between Cowden Syndrome (CS) and severe periodontitis. CS is a rare autosomal dominant disorder characterised by skin and oral hamartomas, and is associated with an increased risk of cancer development.

Case Report: The case of a 43-year old male patient affected by Cowden syndrome and presenting severe periodontitis was reported. Read More

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October 2018
2 Reads

Cowden syndrome and pituitary tumours.

QJM 2018 Oct;111(10):735-736

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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October 2018
6 Reads

Cowden syndrome.

Br J Hosp Med (Lond) 2018 Jun;79(6):352-353

Assistant Professor, Department of Emergency Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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June 2018
5 Reads

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: -opathies and precision medicine.

Endocr Relat Cancer 2018 Aug 23;25(8):T121-T140. Epub 2018 May 23.

Genomic Medicine InstituteLerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA

An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways. Read More

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Dermoscopy of a solitary storiform collagenoma.

Dermatol Pract Concept 2018 Apr 30;8(2):120-122. Epub 2018 Apr 30.

Lewisham and Greenwich NHS Trust, London, UK.

The dermoscopic features of solitary storiform collagenomas (sclerotic fibromas) have not been described previously, as these are rare cutaneous soft tissue tumors. The presence of multiple lesions is considered a marker of Cowden syndrome. They can also present as single firm cutaneous nodules. Read More

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Diffuse Gastric Ganglioneuromatosis: Novel Presentation of Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel Gene Mutation.

Case Rep Med 2018 25;2018:4319818. Epub 2018 Mar 25.

Carilion Clinic, Roanoke, VA, USA.

Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Read More

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March 2018
8 Reads

Porcine rotavirus C in pigs with gastroenteritis on Thai swine farms, 2011-2016.

PeerJ 2018 8;6:e4724. Epub 2018 May 8.

Center of Excellence in Clinical Virology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Swine are economically important food animals, but highly contagious porcine epidemic diarrhea virus (PEDV) and rotavirus can afflict pig herds and contribute significantly to piglet morbidity and mortality. While there have been studies on rotavirus group A (RVA) in Thailand, reports of rotavirus group C (RVC) are limited. Here, we aimed to identify the prevalence of RVC circulating on Thai commercial swine farms. Read More

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A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

Am J Hum Genet 2018 05 26;102(5):943-955. Epub 2018 Apr 26.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN mutations on lipid phosphatase activity in vivo. Read More

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May 2018
1 Read

Eruptive tumors of the follicular infundibulum in photo-exposed skin.

JAAD Case Rep 2018 May 31;4(4):330-332. Epub 2018 Mar 31.

Division of Dermatology, Washington University in St. Louis, St. Louis, Missouri.

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May 2018
4 Reads

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

PLoS Genet 2018 04 23;14(4):e1007352. Epub 2018 Apr 23.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.

Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. Read More

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April 2018
1 Read

A Spatiotemporal Analysis of HIV-Associated Mortality in Rural Western Kenya 2011-2015.

J Acquir Immune Defic Syndr 2018 Aug;78(5):483-490

Centre for Clinical Research, US Army Medical Research Directorate-Kenya (USAMRD-K)/Kenya Medical Research Institute, Kisumu, Kenya.

Background: Reliable data on the HIV epidemic is critical for the measurement of the impact of HIV response and for the implementation of further interventions.

Methods: We used mortality data from the Kombewa health and demographic surveillance systems (HDSS) from January 1, 2011 to December 31, 2015 to examine the space-time pattern of HIV-associated mortality. HIV mortality rate was calculated per 1000 persons living with HIV (for comparison with regional and national averages) and per 1000 person-years (p-y) for comparison with data from other HDSS sites. Read More

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August 2018
9 Reads
4.560 Impact Factor

Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.

Neurosurgery 2018 Dec;83(6):1107-1118

Vivian L. Smith Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas.

Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

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December 2018
5 Reads

Arteriovenous malformation in the sigmoid colon of a patient with Cowden disease treated with laparoscopy: a case report.

BMC Surg 2018 Apr 10;18(1):21. Epub 2018 Apr 10.

Department of laparoscopic hernia center, Kariya Toyota General Hospital, 5-15 Sumiyoshi-cho, Kariya, Aichi, 448-8505, Japan.

Background: Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors. However, only a few reports have investigated the relationship between Cowden disease and vascular malformations. We present a case of Cowden disease along with a review of the literature. Read More

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April 2018
8 Reads

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Eur Thyroid J 2018 Jan 21;7(1):44-50. Epub 2017 Nov 21.

Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia.

Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome.

Material And Methods: A 17-year-old female presented with a 3-month history of progressive right neck swelling. Read More

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January 2018
26 Reads

Effect of Dial-Out Prefix Change on 9-1-1 Calls at a Large State University.

Prehosp Emerg Care 2018 Nov-Dec;22(6):773-777. Epub 2018 Mar 9.

Background: Accessing the emergency medical services system via 9-1-1 operators is an effective way for patients to seek urgent health care; however, technological advances and telecommunication practices inundate the 9-1-1 and emergency services infrastructure with unintentional calls that delay response efforts to legitimate medical emergencies.

Objective: To determine whether the change in university-wide dial-out prefix from "9" to "7" reduced unnecessary calls to a 9-1-1 call center.

Methods: This is a retrospective study conducted utilizing information obtained from the University of North Carolina at Chapel Hill (UNC) Department of Public Safety (DPS) call center. Read More

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March 2018
4 Reads

PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.

Cancer Res Treat 2018 Feb 27. Epub 2018 Feb 27.

Department of Surgery, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Uijeongbu, Korea.

PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. Read More

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February 2018
4 Reads

Cause-specific mortality in the Kombewa health and demographic surveillance systems site, rural Western Kenya from 2011-2015.

Glob Health Action 2018 ;11(1):1442959

a US Army Medical Research Directorate-Kenya (USAMRD-K)/Kenya Medical Research Institute (KEMRI) , Kisumu , Kenya.

Background: The vast majority of deaths in the health and Kombewa demographic surveillance system (HDSS) study area are not registered and reported through official systems of vital registration. As a result, few data are available regarding causes of death in this population.

Objectives: To describe causes of death among residents of all ages in the Kombewa HDSS, located in rural Western Kenya. Read More

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October 2018
2 Reads

Novel Germline Mutation Associated with Cowden Syndrome and Osteosarcoma.

Cancer Genomics Proteomics 2018 Mar-Apr;15(2):115-120

Department of Anatomic Pathology, Moffitt Cancer Center, Tampa, FL, U.S.A.

Background: Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma. Read More

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August 2018
1 Read

Cowden syndrome: clinical case and a brief review.

Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.

Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal.

Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Read More

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August 2017
1 Read

Morphological clues to the appropriate recognition of hereditary renal neoplasms.

Semin Diagn Pathol 2018 May 14;35(3):184-192. Epub 2018 Feb 14.

Department of Pathology and Laboratory Medicine, University of Tennessee Health Sciences, Memphis, USA; Department of Urology, University of Tennessee Health Sciences, Memphis, USA.

An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. Read More

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May 2018
3 Reads

Attempts to grow human noroviruses, a sapovirus, and a bovine norovirus in vitro.

PLoS One 2018 13;13(2):e0178157. Epub 2018 Feb 13.

Food Animal Health Research Program, Ohio Agricultural Research and Development Center, Department of Veterinary Preventive Medicine, The Ohio State University, Wooster, OH, United States of America.

Noroviruses (NoVs) and Sapoviruses (SaVs) are enteric caliciviruses that have been detected in multiple mammalian species, including humans. Currently, efficient cell culture systems have been established only for murine NoVs and porcine SaV Cowden strain. Establishment of an efficient in vitro cell culture system for other NoVs and SaVs remains challenging; however, human NoV (HuNoV) replication in 3D cultured Caco-2 cells and a clone of Caco-2 cells, C2BBe1, human enteroids and in human B cells has been reported. Read More

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March 2018
3 Reads

Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.

Semin Diagn Pathol 2018 May 31;35(3):170-183. Epub 2018 Jan 31.

Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands. Electronic address:

Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome). Histopathological clues to recognize hereditary forms of gastrointestinal cancer and possible ancillary studies that can support an underlying syndrome and guide genetic testing are discussed. Read More

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May 2018
10 Reads

A patient and family data domain collection framework for identifying disparities in pediatrics: results from the pediatric health equity collaborative.

BMC Pediatr 2018 01 31;18(1):18. Epub 2018 Jan 31.

University of California, San Francisco, 4150 Clement St, San Francisco, CA, 94121, USA.

Background: By 2020, the child population is projected to have more racial and ethnic minorities make up the majority of the populations and health care organizations will need to have a system in place that collects accurate and reliable demographic data in order to monitor disparities. The goals of this group were to establish sample practices, approaches and lessons learned with regard to race, ethnicity, language, and other demographic data collection in pediatric care setting.

Methods: A panel of 16 research and clinical professional experts working in 10 pediatric care delivery systems in the US and Canada convened twice in person for 3-day consensus development meetings and met multiple times via conference calls over a two year period. Read More

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January 2018
2 Reads

Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome.

Osteoporos Int 2018 04 29;29(4):993-997. Epub 2018 Jan 29.

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. Read More

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April 2018
6 Reads

Risks predicting prolonged hospital discharge boarding in a regional acute care hospital.

BMC Health Serv Res 2018 01 30;18(1):59. Epub 2018 Jan 30.

Department of Emergency Medicine, Integrative Emergency Services, John Peter Smith Health Network, 1500 S. Main St., Fort Worth, TX, 76104, USA.

Background: Prolonged hospital discharge boarding can impact patient flow resulting in upstream Emergency Department crowding. We aim to determine the risks predicting prolonged hospital discharge boarding and their direct and indirect effects on patient flow.

Methods: Retrospective review of a single hospital discharge database was conducted. Read More

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January 2018
1 Read

Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation.

Pathology 2018 Feb 17;50(2):238-256. Epub 2018 Jan 17.

University of California San Francisco, Pathology Department, San Francisco, CA, United States. Electronic address:

The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. Read More

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February 2018
18 Reads

Effects of oral exposure to inorganic mercury on the feeding behaviour and biochemical markers in yellowfin bream (Acanthopagrus australis).

Mar Environ Res 2018 Mar 20;134:1-15. Epub 2017 Dec 20.

Marine Ecology Research Centre, School of Environment, Science and Engineering, Southern Cross University, PO Box 157, Lismore, NSW 2480, Australia.

Mercury is a known toxic metal, but studies on the effects of inorganic mercury ingestion in aquatic organisms are scarce. The present study aimed to investigate changes in feeding behaviour and biomarkers (lipid peroxidation, acetylcholinesterase, glutathione S-transferase and catalase activities) of yellowfin bream (Acanthopagrus australis) after ingestion of inorganic mercury (control: 0.2 mg kg, low: 0. Read More

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March 2018
2 Reads

[A Case of Cowden Syndrome Associated with Lhermitte-Duclos Disease].

Brain Nerve 2017 Dec;69(12):1442-1446

Department of Neurology, Takeda General Hospital.

A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Read More

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December 2017
8 Reads

Hereditary and familial thyroid tumours.

Histopathology 2018 Jan;72(1):70-81

Massachusetts General Hospital, Boston, MA, USA.

The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More

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January 2018
19 Reads