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Late diagnosis

Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Derrick S Haslem, Ingo Chakravarty, Gail Fulde, Heather Gilbert, Brian P Tudor, Karen Lin, James M Ford, Lincoln D Nadauld
The impact of precision oncology on guiding treatment decisions of late-stage cancer patients was previously studied in a retrospective analysis. However, the overall survival and costs were not previously evaluated. We report the overall survival and healthcare costs associated with precision oncology in these patients with advanced cancer. Building on a matched cohort study of 44 patients with metastatic cancer who received all of their care within a single institution, we evaluated the overall survival and healthcare costs for each patient...
February 23, 2018: Oncotarget
Ravikant Jain, Nikhil Jain, Tanveer Sheikh, Charanjeet Yadav
PURPOSE: Wrist has a complex anatomy and undergoes complex injuries. Scaphoid fracture is one of such injuries. It is the most common fracture in carpal bone. Most of the scaphoid fractures are missed on initial X-rays. Magnetic resonance imaging (MRI) is considered as a gold standard for diagnosing scaphoid fractures. Ultrasonography (USG) is emerging as a good alternative to make an early diagnosis of scaphoid fractures. Our aim is to throw light upon the role of USG in detection of scaphoid fractures...
January 31, 2018: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
Tarini Ratneswaren, Florence Rosie Avila Hogg, Mathew Joseph Gallagher, Keyoumars Ashkan
BACKGROUND: Intracranial hemangiopericytomas (HPC) and solitary fibrous tumors (SFTs) (HPC-SFT) are rare vascular tumors that resemble meningioma on imaging and predominantly affect young adults. HPC-SFT have a high rate of local recurrence with well-known propensity for extracranial metastases. This provides clinical dilemmas frequently encountered in oncology: (i) How should these patients be monitored long term? (ii) Which primary tumors are more likely to metastasize? OBJECTIVES: This systematic review aims to identify the incidence, common locations and time to presentation of extra-cranial metastases of HPC-SFT...
March 17, 2018: Journal of Neuro-oncology
S E M van Opstal, J S van der Zwan, M N Wagener, S K Been, H S Miedema, P D D M Roelofs, E C M van Gorp
Late diagnosis of HIV remains a major challenge in the HIV epidemic. In Europe, about 50% of all people living with HIV are diagnosed late after infection has occurred. Insight into the reasons for late diagnoses is necessary to increase the number of early diagnoses and optimize treatment options. This qualitative study explored the experiences of 34 late-presenters through in-depth semi-structured interviews. A variety of reasons for late diagnoses emerged from our data and led to a division into four groups, characterized by two dimensions...
March 17, 2018: AIDS and Behavior
J Aberle, C Schulze Zur Wiesch, J Flitsch, J Veigel, G Schön, R Jung, F Reining, A Lautenbach, R Rotermund, N Riedel
PURPOSE: Data about the specificity of late-night salivary cortisol (LNSC) in obese subjects are still conflicting. Therefore, with this study, we aimed to evaluate the specificity of LNSC measurement in an obese cohort with or without type 2 diabetes mellitus (T2DM) using an automated electrochemiluminescence immunoassay (ECLIA). METHODS: A total number of 157 patients involving 40 healthy subjects (HS) with BMI < 25 kg/m2 , 83 obese subjects (OS) with BMI ≥ 35 kg/m2 , and 34 histopathologically proven Cushing's disease (CD) were included...
March 17, 2018: Journal of Endocrinological Investigation
Alessandro Zorzi, Angela Susana, Manuel De Lazzari, Federico Migliore, Giovanni Vescovo, Daniele Scarpa, Anna Baritussio, Giuseppe Tarantini, Luisa Cacciavillani, Benedetta Giorgi, Cristina Basso, Sabino Iliceto, Chiara Bucciarelli Ducci, Domenico Corrado, Martina Perazzolo Marra
BACKGROUND: In patients who survived out-of-hospital cardiac arrest (OHCA) it is crucial to establish the underlying cause and its potential reversibility. OBJECTIVE: We assessed the incremental diagnostic and prognostic role of early cardiac magnetic resonance (CMR) in survivors of OHCA. METHODS: Among 139 consecutive OHCA patients, we enrolled 44 (median age 43 years; 84% males) patients who underwent coronary angiography and CMR ≤7 days after admission...
March 14, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Ana Martinez-Naharro, Tushar Kotecha, Karl Norrington, Michele Boldrini, Tamer Rezk, Candida Quarta, Thomas A Treibel, Carol J Whelan, Daniel S Knight, Peter Kellman, Frederick L Ruberg, Julian D Gillmore, James C Moon, Philip N Hawkins, Marianna Fontana
OBJECTIVES: This study evaluated the prognostic potential of native myocardial T1 in cardiac transthyretin amyloidosis (ATTR) and compared native T1 with extracellular volume (ECV) in terms of diagnostic accuracy and prognosis. BACKGROUND: ATTR is an increasingly recognized cause of heart failure that has an overlapping clinical phenotype with hypertrophic cardiomyopathy (HCM). Native T1 mapping by cardiac magnetic resonance (CMR) is useful for diagnosis in cardiac amyloidosis but its prognostic potential has never been assessed...
March 12, 2018: JACC. Cardiovascular Imaging
Manja Kloss, Caspar Grond-Ginsbach, Peter Ringleb, Ingrid Hausser, Werner Hacke, Tobias Brandt
OBJECTIVE: To explore the recurrence of cervical artery dissection (CeAD). METHODS: A single-center consecutive series of 282 CeAD patients was prospectively recruited during first admission from 1995 to 2012. Patients with a follow-up of at least 1 year (n = 238) were eligible for the current analysis. All patients with clinical symptoms or signs of recurrent CeAD on ultrasound were examined by MRI. Dermal connective tissue morphology was studied in 108 (45.4%) patients...
March 16, 2018: Neurology
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
Francesco Mira, Giulia Dowgier, Giuseppa Purpari, Domenico Vicari, Santina Di Bella, Giusi Macaluso, Francesca Gucciardi, Vincenzo Randazzo, Nicola Decaro, Annalisa Guercio
Canine parvovirus (CPV) is the etiological agent of a severe viral disease of dogs. After its emergence in late 1970s, the CPV original type (CPV-2) was rapidly and totally replaced by three antigenic variants named CPV-2a, CPV-2b and CPV-2c. CPV has an evolutionary rate nearest to those of RNA viruses, with consequences on disease diagnosis and epidemiology. This paper reports the molecular characterization of eight CPV-2a strains collected from dogs in Italy in 2016-2017. Genetic analysis was conducted on a CPV genomic region encompassing both open reading frames (ORFs) encoding for nonstructural (NS1-NS2) and structural proteins (VP1-VP2)...
March 13, 2018: Infection, Genetics and Evolution
M Boutsikou, D Shore, W Li, M Rubens, A Pijuan, M A Gatzoulis, S Babu-Narayan
INTRODUCTION: The diagnosis of ALCAPA syndrome is sporadic in adulthood, of the limited cases in the literature most are incidental or without symptoms. There is a broad spectrum of clinical manifestations of ALCAPA syndrome however, including sudden cardiac death. CASES: We present herewith a series of 12 consecutive patients with ALCAPA, all diagnosed in adulthood (between 18 and 73 years of age). Five patients developed symptoms (breathlessness) after the fourth decade of life, 3 were undiagnosed despite a history of previous mitral valve repair, one presented with heart failure, one with resuscitated cardiac arrest, whereas two patients were asymptomatic...
February 24, 2018: International Journal of Cardiology
E C Sattler, O K Steinlein
BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood...
March 16, 2018: BMC Medical Genetics
Linjie Zhao, Wei Wang, Shuang Huang, Zhengnan Yang, Lian Xu, Qilian Yang, Xiu Zhou, Jinjin Wang, Qiuhong Shen, Chenlu Wang, Xiaobing Le, Min Feng, Nianxin Zhou, Wayne Bond Lau, Bonnie Lau, Shaohua Yao, Tao Yi, Xin Wang, Xia Zhao, Yuquan Wei, Shengtao Zhou
BACKGROUND: Ovarian cancer constitutes one of the most lethal gynecologic malignancies for females. Currently, early detection strategies and therapeutic options for ovarian cancer are far from satisfactory, leading to high diagnosis rates at late stages and disease relapses. New avenues of therapy are needed that target key processes in ovarian cancer progression. While a variety of non-coding RNAs have been proven to regulate ovarian cancer metastatic progression, the functional roles of RNA-binding proteins (RBPs) in this process are less well defined...
March 16, 2018: Genome Biology
Germán Errázuriz
INTRODUCTION: Rectal prolapse (RP) is related to an increase of intra-abdominal pressure, pelvic floor disease or anal sphincter. The most common causes of RP are constipation, cystic fibrosis, whooping cough and dysenteric diarrhea. However, celiac disease is not considered among the pathologies re lated to RP. OBJECTIVE: To present a scarcely described association between RP and celiac disease. CLINICAL CASES: We presented 2 preschoolers in whom the reason for consultation was RP, whose study was focused on as prolonged diarrhea, due to the antecedent of pasty consistency of stools...
December 2017: Revista Chilena de Pediatría
Marcela Ewing, Peter Naredi, Chenyang Zhang, Jörgen Månsson
Background: Many patients with common cancers are late diagnosed. Objectives: Identify consultation profiles and clinical features in patients with the seven most common cancers, who had consulted a general practitioner (GP) frequently before their cancer diagnosis. Methods: A case-control study was conducted in Region Västra Götaland, Sweden. A total of 2570 patients, diagnosed in 2011 with prostate, breast, colorectal, lung, gynaecological and skin cancers including malignant melanoma, and 9424 controls were selected from the Swedish Cancer Register and a regional health care database...
March 13, 2018: Family Practice
Chenhui Mao, Jing Gao, Liri Jin, Bin Peng, Yupu Guo
Neurosyphilis occurs in the late stage of systemic syphilis infection; early diagnosis and treatment are crucial to the prognosis. We review 3 autopsy cases with different subtypes of neurosyphilis, that is cases with meningovascular, general paresis, and a combination of the 2, respectively. We investigated the gross morphology and leptomeninges, vessels, cerebral cortex, white matter, brainstem, cerebellum, olfactory bulb and spinal cord microscopically. We found that meningovascular inflammation exists in both early and late phases of neurosyphilis, not only in the meningovascular subtype...
March 12, 2018: Journal of Neuropathology and Experimental Neurology
Erol Arslan, Selim Büyükkurt, Mete Sucu, Mehmet Özsürmeli, Selahattin Mısırlıoğlu, S Cansun Demir, I Cüneyt Evrüke
OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomical screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with a careful examination. MATERIAL AND METHODS: This was a descriptive study retrospective data that was obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Gesine Meyer, Klaus Badenhoop
An adrenal crisis (Addisonian crisis) is an acute life-threatening complication of adrenal insufficiency. It occurs when hydrocortisone demand is not met by supplementation in the context of an infection - often gastrointestinal, fever, trauma, acute psychological or physical stress. Symptoms of weakness, nausea, muscle/joint pain and drowsiness may develop out of robust health within few hours. If overlooked, treated too late, with insufficient dose or route of application, there exists a considerable risk of mortality...
March 2018: Deutsche Medizinische Wochenschrift
Susan Kane Patton, Bailey Phillips
Evidence-based strategies for nurses. ABSTRACT: Lyme disease is recognized as the most common vector-borne disease in the United States. Surveillance data indicate both increasing numbers of Lyme disease cases and geographic expansion of areas where the causative spirochete, Borrelia burgdorferi, can be found. With prompt diagnosis and appropriate treatment in the acute stage, most patients will recover fully. Without treatment, however, the infecting pathogen remains within the body, often producing long-term complications, including musculoskeletal, neurologic, and cardiovascular effects...
March 14, 2018: American Journal of Nursing
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