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Clinical gestalt

T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
March 6, 2018: Neurogenetics
Mukesh Kumar, Shilpi Modi, Poonam Rana, Pawan Kumar, Ratnesh Kanwar, Tarun Sekhri, Maria D'souza, Subash Khushu
Subclinical hypothyroidism (SCH) is characterized by mild elevation of thyroid stimulating hormone (TSH) (range 5-10 μIU/ml) and normal free triiodothyronine (FT3) and free thyroxine (FT4). The cognitive function impairment is well known in thyroid disorders such as hypothyroidism and hyperthyroidism, but little is known about deficits in brain functions in SCH subjects. Also, whether hormone-replacement treatment is necessary or not in SCH subjects is still debatable. In order to have an insight into the cognition of SCH subjects, intrinsic and extrinsic functional connectivity (FC) of the resting state networks (RSNs) was studied...
March 5, 2018: Journal of Neuroendocrinology
Sofía Catena, Mariana Aracena, Óscar Pizarro, Karena Espinoza, Guillermo Lay-Son
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted...
December 2017: Molecular Syndromology
Yonathan Freund, Marine Cachanado, Adeline Aubry, Charlotte Orsini, Pierre-Alexis Raynal, Anne-Laure Féral-Pierssens, Sandrine Charpentier, Florence Dumas, Nacera Baarir, Jennifer Truchot, Thibaut Desmettre, Karim Tazarourte, Sebastien Beaune, Agathe Leleu, Mehdi Khellaf, Mathias Wargon, Ben Bloom, Alexandra Rousseau, Tabassome Simon, Bruno Riou
Importance: The safety of the pulmonary embolism rule-out criteria (PERC), an 8-item block of clinical criteria aimed at ruling out pulmonary embolism (PE), has not been assessed in a randomized clinical trial. Objective: To prospectively validate the safety of a PERC-based strategy to rule out PE. Design, Setting, and Patients: A crossover cluster-randomized clinical noninferiority trial in 14 emergency departments in France. Patients with a low gestalt clinical probability of PE were included from August 2015 to September 2016, and followed up until December 2016...
February 13, 2018: JAMA: the Journal of the American Medical Association
Deborah J Williams, Amy H Kaji
No abstract text is available yet for this article.
February 2018: Annals of Emergency Medicine
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
Champica K Bodinayake, L Gayani Tillekeratne, Ajith Nagahawatte, Vasantha Devasiri, Wasantha Kodikara Arachchi, John J Strouse, October M Sessions, Ruvini Kurukulasooriya, Anna Uehara, Shiqin Howe, Xin Mei Ong, Sharon Tan, Angelia Chow, Praveen Tummalapalli, Aruna D De Silva, Truls Østbye, Christopher W Woods, Duane J Gubler, Megan E Reller
BACKGROUND: Dengue is a leading cause of fever and mimics other acute febrile illnesses (AFI). In 2009, the World Health Organization (WHO) revised criteria for clinical diagnosis of dengue. METHODOLOGY/PRINCIPAL FINDINGS: The new WHO 2009 classification of dengue divides suspected cases into three categories: dengue without warning signs, dengue with warning signs and severe dengue. We evaluated the WHO 2009 classification vs physicians' subjective clinical diagnosis (gestalt clinical impression) in a large cohort of patients presenting to a tertiary care center in southern Sri Lanka hospitalized with acute febrile illness...
February 9, 2018: PLoS Neglected Tropical Diseases
Pamela Douglas, Donna Geddes
BACKGROUND: breastfeeding optimises health outcomes for both mothers and infants. Although most women want to breastfeed, they report commencing infant formula because of nipple pain, unsettled infant behaviour, and infant growth concerns. To date, existing approaches to fit and hold ('latch and positioning') have been demonstrated not to help breastfeeding outcomes, and women report widespread dissatisfaction with the quality of support and conflicting advice they receive. Breast and nipple pain, difficulty with latching and sucking, fussing at the breast, back-arching, marathon feeds, excessively frequent feeds, poor weight gain, breast refusal, and crying due to poor satiety often signal suboptimal positional instability and impaired milk transfer, but may be misdiagnosed as medical conditions...
March 2018: Midwifery
Luitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, Steffen Uebe, Arif B Ekici, Christian T Thiel, André Reis, Christiane Zweier
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in one of three genes, MASP1, COLEC11 and COLEC10, all encoding factors of the lectin complement pathway. In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP-3 are causative. By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or short stature...
January 30, 2018: European Journal of Medical Genetics
Ceris I Owen, Ramsay Bowden, Michael J Parker, Jo Patterson, Joan Patterson, Sue Price, Ajoy Sarkar, Bruce Castle, Charulatha Deshpande, Miranda Splitt, Neeti Ghali, John Dean, Andrew J Green, Charlene Crosby, Katrina Tatton-Brown
Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia...
January 31, 2018: American Journal of Medical Genetics. Part A
Brent Thoma, Stefanie S Sebok-Syer, Isabelle Colmers-Gray, Jonathan Sherbino, Felix Ankel, N Seth Trueger, Andrew Grock, Marshall Siemens, Michael Paddock, Eve Purdy, William Kenneth Milne, Teresa M Chan
Construct: We investigated the quality of emergency medicine (EM) blogs as educational resources. PURPOSE: Online medical education resources such as blogs are increasingly used by EM trainees and clinicians. However, quality evaluations of these resources using gestalt are unreliable. We investigated the reliability of two previously derived quality evaluation instruments for blogs. APPROACH: Sixty English-language EM websites that published clinically oriented blog posts between January 1 and February 24, 2016, were identified...
January 30, 2018: Teaching and Learning in Medicine
Sven Bölte, Soheil Mahdi, Petrus J de Vries, Mats Granlund, John E Robison, Cory Shulman, Susan Swedo, Bruce Tonge, Virginia Wong, Lonnie Zwaigenbaum, Wolfgang Segerer, Melissa Selb
Autism spectrum disorder is associated with diverse social, educational, and occupational challenges. To date, no standardized, internationally accepted tools exist to assess autism spectrum disorder-related functioning. World Health Organization's International Classification of Functioning, Disability and Health can serve as foundation for developing such tools. This study aimed to identify a comprehensive, a common brief, and three age-appropriate brief autism spectrum disorder Core Sets. Four international preparatory studies yielded in total 164 second-level International Classification of Functioning, Disability and Health candidate categories...
January 1, 2018: Autism: the International Journal of Research and Practice
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
Allison M Michaud, Shannon I A Parker, Heather Ganshorn, Justin A Ezekowitz, Andrew D McRae
BACKGROUND: Acute heart failure (AHF) accounts for a substantial proportion of Emergency Department (ED) visits and hospitalizations. Previous studies have shown that emergency physicians' clinical gestalt is not sufficient to stratify patients with AHF into severe and requiring hospitalization vs nonsevere and safe to be discharged. Various prognostic algorithms have been developed to risk-stratify patients with AHF, however there is no consensus as to the best-performing risk assessment tool in the ED...
September 12, 2017: Canadian Journal of Cardiology
Carlos Andrés Quezada, Celia Zamarro, Vicente Gómez, Ina Guerassimova, Rosa Nieto, Esther Barbero, Diana Chiluiza, Deisy Barrios, Raquel Morillo, David Jiménez
BACKGROUND AND OBJECTIVE: To determine the accuracy of clinical gestalt to identify patients with acute symptomatic pulmonary embolism (PE) at low-risk for short-term complications. PATIENTS AND METHODS: This study included a total of 154 consecutive patients diagnosed with acute symptomatic PE in a tertiary university hospital. We compared the prognostic accuracy of the Pulmonary Embolism Severity Index (PESI), the simplified PESI (sPESI), and clinical gestalt of 1) 2senior physicians (one with and one without experience in the management of patients with PE), 2) a fourth-year resident of Pneumology, 3) a third-year resident of Pneumology, and 4) a second-year resident of Pneumology...
December 21, 2017: Medicina Clínica
Tracy Dudding-Byth, Anne Baxter, Elizabeth G Holliday, Anna Hackett, Sheridan O'Donnell, Susan M White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C Lovell
BACKGROUND: Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]...
December 19, 2017: BMC Biotechnology
Alexandre Tran, Maher Matar, Jacinthe Lampron, Ewout Steyerberg, Monica Taljaard, Christian Vaillancourt
BACKGROUND: Delays in appropriate triage of bleeding trauma patients result in poor outcomes. Clinical gestalt is fallible and objective measures of risk stratification are needed. The objective of this review is to identify and assess prediction models and predictors for the early identification of traumatic hemorrhage patients requiring massive transfusion, surgery, or embolization. METHODS: We searched electronic databases through to September 31, 2016, for studies describing clinical, laboratory, and imaging predictors available within the first hour of resuscitation for identifying patients requiring major intervention for hemorrhage within the first 24 hours...
March 2018: Journal of Trauma and Acute Care Surgery
Saadia Amasdl, Wiam Smaili, Abdelhafid Natiq, Amale Hassani, Aziza Sbiti, Aomar Agadr, Damien Sanlaville, Abdelaziz Sefiani
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed...
December 16, 2017: Cytogenetic and Genome Research
Chin Pang Wong, Chun Tat Lui, Jonathan Gabriel Sung, Ho Lam, Hin Tat Fung, Ping Wa Yam
BACKGROUND: Assessment of patients with chest pain is a regular challenge in the emergency department (ED). Recent guidelines recommended quantitative assessment of ischemic risk by means of risk scores. OBJECTIVE: Our aim was to assess the performance of Thrombosis in Myocardial Infarction (TIMI); Global Registry of Acute Coronary Events (GRACE); history, electrocardiogram, age, risk factors, and troponin (HEART) scores; and the North America Chest Pain Rule (NACPR) without components of clinical gestalt in predicting 30-day major adverse cardiac events (MACE)...
February 2018: Journal of Emergency Medicine
Linda M Pak, Mithat Gonen, Kenneth Seier, Vinod P Balachandran, Michael I D'Angelica, William R Jarnagin, T Peter Kingham, Peter J Allen, Richard K G Do, Amber L Simpson
PURPOSE: Clinician gestalt may hold unexplored information that can be capitalized upon to improve existing nomograms. The study objective was to evaluate physician ability to predict 2-year overall survival (OS) in resected pancreatic ductal adenocarcinoma (PDAC) patients based on pre-operative clinical characteristics and routine CT imaging. METHODS: Ten surgeons and two radiologists were provided with a clinical vignette (including age, gender, presenting symptoms, and pre-operative CA19-9 when available) and pre-operative CT scan for 20 resected PDAC patients and asked to predict the probability of each patient reaching 2-year OS...
November 24, 2017: Abdominal Radiology
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