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https://www.readbyqxmd.com/read/28528327/three-quarters-adrenalectomy-for-infantile-onset-cushing-syndrome-due-to-bilateral-adrenal-hyperplasia-in-mccune-albright-syndrome
#1
Tomoyo Itonaga, Hironori Goto, Manabu Toujigamori, Yasuharu Ohno, Seigo Korematsu, Tatsuro Izumi, Satoshi Narumi, Tomonobu Hasegawa, Kenji Ihara
BACKGROUND: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS...
May 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28523880/halolike-phenomenon-around-a-caf%C3%A3-au-lait-spot-superimposed-on-a-mongolian-spot
#2
Iria Neri, Martina Lambertini, Vera Tengattini, Beatrice Rivalta, Annalisa Patrizi
An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear.
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#3
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28490282/death-cafe
#4
Lizzy Miles, Charles A Corr
This article explains the meaning of the phrase Death Cafe and describes what typically occurs at a Death Cafe gathering. The article traces the history of the Death Cafe movement, explores some reasons why people take part in a Death Cafe gathering, and gives examples of what individuals think they might derive from their participation. In addition, this article notes similarities between the Death Cafe movement and three other developments in the field of death, dying, and bereavement. Finally, this article identifies two provisional lessons that can be drawn from Death Cafe gatherings and the Death Cafe movement itself...
June 2017: Omega
https://www.readbyqxmd.com/read/28472642/influence-of-seasoning-on-vegetable-selection-liking-and-intent-to-purchase
#5
Joanna Manero, Carter Phillips, Brenna Ellison, Soo-Yeun Lee, Sharon M Nickols-Richardson, Karen M Chapman-Novakofski
Low vegetable intake continues to be a health concern, and strategies to increase vegetable intake have resulted in only small increases. One strategy that has received less attention is the use of seasonings. This study's objective was to determine the impact of seasoning on vegetable selection, liking, and intent to purchase. We conducted a 3-week study in a public café on a university campus. Customers buying a main dish could select a vegetable side (seasoned [SS] or steamed [ST]) at no cost. Based on café data and power analysis (alpha 0...
May 1, 2017: Appetite
https://www.readbyqxmd.com/read/28472388/cafe-accelerated-alignment-free-sequence-analysis
#6
Yang Young Lu, Kujin Tang, Jie Ren, Jed A Fuhrman, Michael S Waterman, Fengzhu Sun
Alignment-free genome and metagenome comparisons are increasingly important with the development of next generation sequencing (NGS) technologies. Recently developed state-of-the-art k-mer based alignment-free dissimilarity measures including CVTree, $d_2^*$ and $d_2^S$ are more computationally expensive than measures based solely on the k-mer frequencies. Here, we report a standalone software, aCcelerated Alignment-FrEe sequence analysis (CAFE), for efficient calculation of 28 alignment-free dissimilarity measures...
May 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28469372/a-rare-case-of-crohn-s-ileitis-in-a-patient-with-constitutional-mismatch-repair-deficiency
#7
Pavlos Kaimakliotis, Francis Giardiello, Ogechukwu Eze, Brindusa Truta
Constitutional mismatch repair deficiency (CMMRD), a variant of Lynch syndrome, is a rare disease characterized by café-au-lait spots, oligopolyposis, glioblastoma and lymphoma. A 24-year-old male, under surveillance for CMMRD, developed Crohn's ileitis after total colectomy with end ileostomy for colorectal cancer and failed to respond to oral corticosteroids. The patient underwent induction and maintenance of remission with vedolizumab infusions. We report the first patient with CMMRD developing Crohn's disease...
2017: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/28464097/live-animal-assessments-of-rump-fat-and-muscle-score-in-angus-cows-and-steers-using-3-dimensional-imaging
#8
M J McPhee, B J Walmsley, B Skinner, B Littler, J P Siddell, L M Cafe, J F Wilkins, V H Oddy, A Alempijevic
The objective of this study was to develop a proof of concept for using off-the-shelf Red Green Blue-Depth (RGB-D) Microsoft Kinect cameras to objectively assess P8 rump fat (P8 fat; mm) and muscle score (MS) traits in Angus cows and steers. Data from low and high muscled cattle (156 cows and 79 steers) were collected at multiple locations and time points. The following steps were required for the 3-dimensional (3D) image data and subsequent machine learning techniques to learn the traits: 1) reduce the high dimensionality of the point cloud data by extracting features from the input signals to produce a compact and representative feature vector, 2) perform global optimization of the signatures using machine learning algorithms and a parallel genetic algorithm, and 3) train a sensor model using regression-supervised learning techniques on the ultrasound P8 fat and the classified learning techniques for the assessed MS for each animal in the data set...
April 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28446098/world-caf%C3%A3-a-proactive-approach-to-working-with-mentors
#9
Megan O'Connor, Liz Cotrel-Gibbons
Mentors are vital for supporting nursing students' learning in practice, but increasing demands on registered nurses can make this a challenging part of their role. This article describes how a new education team in Jersey used the World Café approach to working with mentors on a mentor update day. It explains how the café environment helped mentors to share ideas, develop opportunities to support students' learning in practice areas, increase interdepartmental working and increased communication between the education department and mentors...
April 27, 2017: Nursing Management (Harrow)
https://www.readbyqxmd.com/read/28445392/death-caf%C3%A3-s-death-doulas-and-family-communication
#10
Paula K Baldwin
The Death Café is part of the Death Positive movement, and as such, is uniquely positioned to bring the dialogue about death and dying to the public. Participants in a Death Café typically have two different perspectives. Some participants have not experienced death in their family and friends' circle and wish to converse with others about their beliefs on death and dying. Others are those who have experienced death somewhere in their circle of friends and families. One of goals of the Death Café facilitators is to help attendees reconcile their family narratives regarding death using the broader lens of the Death Café...
April 26, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28442248/social-environments-and-interpersonal-distance-regulation-in-psychosis-a-virtual-reality-study
#11
Chris N W Geraets, Marije van Beilen, Roos Pot-Kolder, Jacqueline Counotte, Mark van der Gaag, Wim Veling
BACKGROUND: Experimentally studying the influence of social environments on mental health and behavior is challenging, as social context is difficult to standardize in laboratory settings. Virtual Reality (VR) enables studying social interaction in terms of interpersonal distance in a more ecologically valid manner. Regulation of interpersonal distance may be abnormal in patients with psychotic disorders and influenced by environmental stress, symptoms or distress. AIMS: To investigate interpersonal distance in people with a psychotic disorder and at ultrahigh risk for psychosis (UHR) compared to siblings and controls in virtual social environments, and explore the relationship between clinical characteristics and interpersonal distance...
April 22, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28441793/patterns-beliefs-norms-and-perceived-harms-of-hookah-smoking-in-north-iran
#12
Rahman Berdi Ozouni Davaji, Yousef Dadban Shahamat, Farshid Hajili Davaji, Kamal Mirkarimi, Abdurrahman Charkazi, Bagher Pahlavanzadeh, Navisa Sadat Seydghasemi, Gholamreza Sharifirad, Mitra Moodi, Ayoub Elahi
Introduction: Hookah smoking is considered as a public health threat around the globe. The aim of this study was to investigatethe hookah smoking patterns, beliefs, norms and perceived harms in Golestan province of Iran. Methods: A cross-sectional study was conducted on 395 hookah smokers using convenience sampling method in 2015. To collect data, Heinz’s hookah patternwas utilized. Ordinal regression models were used to exploring of covariates related to the odds of life time, last-30-day, and current hookah use...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28432846/pathological-internet-use-cyberbullying-and-mobile-phone-use-in-adolescence-a-school-based-study-in-greece
#13
Zoi Tsimtsiou, Anna-Bettina Haidich, Anastasios Drontsos, Fotini Dantsi, Zafiria Sekeri, Evangelos Drosos, Nikolaos Trikilis, Theodoros Dardavesis, Panagiotis Nanos, Malamatenia Arvanitidou
Purpose This study investigated the prevalence of Internet addiction (IA) and cyberbullying and examined profiles of adolescents with increased risk to develop pathological behaviors. Methods In this cross-sectional, school-based study, 8053 students of 30 middle and 21 high schools (12-18 years old) were invited to participate, based on a multistage stratified random sampling technique. The Internet aiddiction test (IAT) was used along with information on socio-demographics, Internet activities and cyberbullying experience...
April 22, 2017: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/28414628/fried-green-tomatoes-and-the-color-purple-a-case-study-in-lesbian-friendship-and-cultural-controversy
#14
Kristen Proehl
Published in the 1980s, Fannie Flagg's Fried Green Tomatoes at the Whistle Stop Café and Alice Walker's The Color Purple are lesbian coming-of-age narratives that share a great deal in common in terms of their thematic content, publication histories, and cultural afterlives. In both novels, female friendships are shaped by patriarchal violence and develop in the context of the rural, segregated, early twentieth-century U.S. South. But the two novels also diverge in significant ways, as differences in race, gender, class, and sexuality shape their protagonists' experiences of love and friendship...
April 17, 2017: Journal of Lesbian Studies
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#15
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28405569/plexiform-neurofibroma-overlying-giant-caf%C3%A3-au-lait-macule
#16
Sanjiv V Choudhary, Anuja A Dhope, Ruchi Singh, Pravin Tidke
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28396519/high-confidence-coding-and-noncoding-transcriptome-maps
#17
Bo-Hyun You, Sang-Ho Yoon, Jin-Wu Nam
The advent of high-throughput RNA sequencing (RNA-seq) has led to the discovery of unprecedentedly immense transcriptomes encoded by eukaryotic genomes. However, the transcriptome maps are still incomplete partly because they were mostly reconstructed based on RNA-seq reads that lack their orientations (known as unstranded reads) and certain boundary information. Methods to expand the usability of unstranded RNA-seq data by predetermining the orientation of the reads and precisely determining the boundaries of assembled transcripts could significantly benefit the quality of the resulting transcriptome maps...
April 10, 2017: Genome Research
https://www.readbyqxmd.com/read/28388367/a-consensus-based-set-of-measures-for-oral-health-care
#18
F Baâdoudi, A Trescher, D Duijster, N Maskrey, F Gabel, G J M G van der Heijden, S Listl
Increasingly more responsive and accountable health care systems are demanded, which is characterized by transparency and explicit demonstration of competence by health care providers and the systems in which they work. This study aimed to establish measures of oral health for transparent and explicit reporting of routine data to facilitate more patient-centered and prevention-oriented oral health care. To accomplish this, an intermediate objective was to develop a comprehensive list of topics that a range of stakeholders would perceive as valid, important, and relevant for describing oral health and oral health care...
April 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28384435/birthing-on-country-in-our-community-a-case-study-of-engaging-stakeholders-and-developing-a-best-practice-indigenous-maternity-service-in-an-urban-setting
#19
Sue Kildea, Sophie Hickey, Carmel Nelson, Jody Currie, Adrian Carson, Maree Reynolds, Kay Wilson, Sue Kruske, Megan Passey, Yvette Roe, Roianne West, Anton Clifford, Machellee Kosiak, Shannon Watego, Sally Tracy
Developing high-quality and culturally responsive maternal and infant health services is a critical part of 'closing the gap' in health disparities between Aboriginal and Torres Strait Islander people and other Australians. The National Maternity Services Plan led work that describes and recommends Birthing on Country best-practice maternity care adaptable from urban to very remote settings, yet few examples exist in Australia. This paper demonstrates Birthing on Country principles can be applied in the urban setting, presenting our experience establishing and developing a Birthing on Country partnership service model in Brisbane, Australia...
April 7, 2017: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/28381238/homozygous-germ-line-mutation-of-the-pms2-mismatch-repair-gene-a-unique-case-report-of-constitutional-mismatch-repair-deficiency-cmmrd
#20
N C Ramchander, N A J Ryan, E J Crosbie, D G Evans
BACKGROUND: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constitutional mismatch repair deficiency syndrome is characterised by early onset malignancies. Fewer than 150 cases have been reported in the literature over the past 20 years. This is the first report of the founder PMS2 mutation - NM_000535...
April 5, 2017: BMC Medical Genetics
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