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Early diagnosis

Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to control intractable airway symptoms. The patient experienced a chronic productive cough beginning in early childhood and had multiple episodes of pneumonia and otitis media with effusion and sinusitis...
October 21, 2016: Molecular Medicine Reports
V Bergink, J T Larsen, M H J Hillegers, S K Dahl, H Stevens, P B Mortensen, L Petersen, T Munk-Olsen
Childhood adverse events are risk factors for later bipolar disorder. We quantified the risks for a later diagnosis of bipolar disorder after exposure to adverse life events in children with and without parental psychopathology. This register-based population cohort study included all persons born in Denmark from 1980 to 1998 (980 554 persons). Adversities before age 15 years were: familial disruption; parental somatic illness; any parental psychopathology; parental labour market exclusion; parental imprisonment; placement in out-of-home care; and parental natural and unnatural death...
October 25, 2016: Translational Psychiatry
Sisse R Ostrowski, Hanne H Henriksen, Jakob Stensballe, Mikkel Gybel-Brask, Jessica C Cardenas, Lisa A Baer, Bryan A Cotton, John B Holcomb, Charles E Wade, Pär I Johansson
BACKGROUND: One third of severely injured patients present with a laboratory based diagnosis of coagulopathy. This study investigated clinical and biomarker profile of patients with rapid TEG (rTEG) coagulopathy hypothesizing that sympathoadrenal activation and endothelial damage were drivers of this condition. METHODS: Prospective observational study of 404 trauma patients admitted to a Level 1 US Trauma Center. Patients with admission rTEG and plasma measurements of catecholamines (adrenaline, noradrenaline) and biomarkers reflecting endothelial activation/damage (syndecan-1, thrombomodulin, sE-selectin, sVE-cadherin, nucleosomes) were included...
October 25, 2016: Journal of Trauma and Acute Care Surgery
Jaroslav Meluzin, Zdenek Starek, Tomas Kulik, Jiri Jez, Frantisek Lehar, Josef Tomandl, Ladislav Dusek, Jiri Wolf, Pavel Leinveber, Miroslav Novak
BACKGROUND: Noninvasive diagnosis of exercise-induced elevation of left ventricular filling pressure is difficult and remains unsatisfactory. The aim of this study was to assess the accuracy of the ratio of early diastolic transmitral (E) to mitral annular (e') velocity and to determine new parameters or parameter combinations with the ability to predict exercise-induced left atrial pressure (LAP) elevation. METHODS AND RESULTS: Eighty patients with paroxysmal atrial fibrillation (AF) referred for catheter AF ablation underwent simultaneous exercise echocardiography and direct invasive LAP measurements, as well as a resting and postexercise biomarker analysis...
October 25, 2016: Echocardiography
R N Villar-Quiles, J Porta-Etessam
INTRODUCTION: Neurosyphilis can occur at any time following infection by Treponema pallidum and its incidence has increased over recent years. The epidemiological and clinical pattern has undergone a substantial change in the post-antibiotic era. AIMS: To describe and analyse the population of patients diagnosed with neurosyphilis at a tertiary hospital in Madrid from January to May 2015. PATIENTS AND METHODS: A retrospective analysis of the following data was performed: demographic, clinical, complementary tests -serology, cerebrospinal fluid (CSF), neuroimaging- and progression of 28 patients diagnosed between 2008 and 2015...
November 1, 2016: Revista de Neurologia
Daniel Shu Wei Ting, Kara-Anne Tan, Val Phua, Gavin Siew Wei Tan, Chee Wai Wong, Tien Yin Wong
Diabetic retinopathy (DR), a leading cause of acquired vision loss, is a microvascular complication of diabetes. While traditional risk factors for diabetic retinopathy including longer duration of diabetes, poor blood glucose control, and dyslipidemia are helpful in stratifying patient's risk for developing retinopathy, many patients without these traditional risk factors develop DR; furthermore, there are persons with long diabetes duration who do not develop DR. Thus, identifying biomarkers to predict DR or to determine therapeutic response is important...
December 2016: Current Diabetes Reports
Ying Liu, Ying Liao, Linlin Xiang, Kuo Jiang, Siyao Li, Mingmei Huangfu, Shilong Sun
BACKGROUND: Specific circulating autoantibodies are produced by host immune systems to respond to antigens that arise during tumorigenesis. To achieve auxiliary diagnosis, the present study was designed to test whether circulating autoantibodies against tumor-associated antigens (TAAs) were altered in early breast cancer. METHODS: A total of 102 breast cancer patients and 146 age-matched healthy volunteers were recruited to participate in this study. Autoantibody expression was tested using in-house developed enzyme-linked immunosorbent assay (ELISA) with linear peptide envelope antigens derived from TAAs...
October 24, 2016: International Journal of Clinical Oncology
O Nemes, N Kovacs, Sz Szujo, B Bodis, L Bajnok, A Buki, T Doczi, E Czeiter, E Mezosi
BACKGROUND: Post-traumatic hypopituitarism is a major complication after severe head trauma. The aim of our study was to evaluate the possible role of early clinical parameters in the development of endocrine deficits. METHODS: Data on endocrine function, on-admission clinical-, laboratory-, and ICU-monitored parameters were available in 63 patients of the surviving 86 severe head injury patients (post-resuscitation GCS under 8) treated at one neurosurgical center during a 10-year period...
October 25, 2016: Acta Neurochirurgica
Tomiko Takeuchi, Koko Muraoka, Megumi Yamada, Yuri Nishio, Isao Hozumi
PURPOSE: Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene (SLC20A2). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3. METHODS: Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences...
2016: SpringerPlus
Sanjeev Kakar, Ryan E Breighner, Shuai Leng, Cynthia H McCollough, Steven L Moran, Richard A Berger, Kristin D Zhao
Background Scapholunate (SL) interosseus ligament injuries detected at an early stage could allow the surgeon to prevent progression through the spectrum of injury that leads to instability, and eventually osteoarthritis. We contend that early instability following injury can be detected by visualizing the relative motions and distances between the involved carpal bones (scaphoid and lunate) during wrist movement in vivo. The purpose of this study is to demonstrate the utility of dynamic CT (i.e., 4DCT) in diagnosing SL interosseus ligament injuries in two patients with clinical suspicion of SL interosseus ligament injury during flexion-extension (FE), radial-ulnar (RU) deviation, and dart thrower's (DT) motions...
November 2016: Journal of Wrist Surgery
Tsuyoshi Isawa, Norio Tada, Tatsushi Ootomo
Coronary obstruction during or after transcatheter aortic valve replacement is a rare and catastrophic sequela that occurs most frequently just after valve implantation. Even rarer is the delayed clinical presentation, in some few patients, of coronary obstruction on the day after self-expandable valve implantation. Here we describe a case of balloon-expandable (not self-expandable) transcatheter aortic valve replacement, followed by partial obstruction of the left main coronary artery on the day after that procedure in a 93-year-old man, despite normal left ventricular contraction just after valve implantation...
October 2016: Texas Heart Institute Journal
Lana de Lourdes Aguiar Lima, Raphael Câmara Medeiros Parente, Izildinha Maestá, Joffre Amim Junior, Jorge Fonte de Rezende Filho, Carlos Antonio Barbosa Montenegro, Antônio Braga
Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase...
July 2016: Radiologia Brasileira
Yoshio Kawakami, Takashi Katayama, Masayuki Kishida, Wakako Oda, Yasuro Inoue
A 71-year-old man presented with a high fever, polyarthralgia, petechiae and palpable purpura accompanied by livedoid change on his legs and feet. Histopathological findings of the purpura revealed perivascular infiltration of neutrophils, mononuclear cells, and nuclear debris, and extravasation of red cells mainly in the upper dermis: all signs consistent with leukocytoclastic vasculitis. Small vessel thrombi, which are characteristic features of septic vasculopathy, were also observed. Direct immunofluorescence showed negative results...
October 2016: Acta Medica Okayama
James A Bashford, Fahmida A Chowdhury, Chris E Shaw
The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition...
October 24, 2016: Practical Neurology
Aleksei A Filippov, Pedro J Del Nido, Nikolay V Vasilyev
In recent decades, significant progress has been made in the diagnosis and management of congenitally corrected transposition of the great arteries (ccTGA). Nevertheless, gradual dysfunction and failure of the right ventricle (RV) in the systemic circulation remain the main contributors to mortality and disability for patients with ccTGA, especially after adolescence. Anatomic repair of ccTGA effectively resolves the problem of failure of the systemic RV and has good early and midterm results. However, this strategy is applicable primarily in infants and children up to their teens and has associated risks and limitations, and new challenges can arise in the late postoperative period...
October 25, 2016: Circulation
Bobby Yanagawa, Gosta B Pettersson, Gilbert Habib, Marc Ruel, Gustavo Saposnik, David A Latter, Subodh Verma
There has been an overall improvement in surgical mortality for patients with infective endocarditis (IE), presumably because of improved diagnosis and management, centered around a more aggressive early surgical approach. Surgery is currently performed in approximately half of all cases of IE. Improved survival in surgery-treated patients is correlated with a reduction in heart failure and the prevention of embolic sequelae. It is reported that between 20% and 40% of patients with IE present with stroke or other neurological conditions...
October 25, 2016: Circulation
Anthony O Meka, Joseph N Chukwu, Charles C Nwafor, Daniel C Oshi, Nelson O Madichie, Ngozi Ekeke, Moses C Anyim, Chukwuka Alphonsus, Obinna Mbah, Glory C Uzoukwa, Martin Njoku, Kentigern Ntana, Kingsley N Ukwaja
BACKGROUND: Delayed diagnosis of Buruli ulcer can worsen clinical presentation of the disease, prolong duration of management, and impose avoidable additional costs on patients and health providers. We investigated the profile, delays in diagnosis, duration of hospitalisation, and associated factors among patients with Buruli ulcer in Nigeria. METHODS: This was a prospective cohort study of patients with Buruli ulcer who were identified from a community-based survey...
October 23, 2016: Transactions of the Royal Society of Tropical Medicine and Hygiene
Marine Forien, Sébastien Ottaviani
Rheumatoid arthritis (RA) is chronic rheumatic disorder leading to joint inflammation and potential structural damages. This destruction occurs early in the disease outcome leading to the concept of window of opportunity. New diagnosis RA criteria have been proposed to allow an earlier diagnosis and subsequently a better management of the disease. Moreover, tight control of the disease was able to improve the prognosis of RA. For this, rheumatologists need routinely feasible tools and ultrasound (US) appears as the ideal imaging modality...
October 21, 2016: Joint, Bone, Spine: Revue du Rhumatisme
Ruggero De Paulis, Salvatore D'Aleo, Alessandro Bellisario, Andrea Salica, Luca P Weltert, Raffaele Scaffa, Lorenzo Guerrieri Wolf, Daniele Maselli, Michele Di Mauro
BACKGROUND: Structural valve deterioration (SVD) is the Achilles' heel of bioprostheses. Its correlation with younger age is well known. In recent years we exclusively reserved use of small-size Mitroflow valve prostheses (LivaNova, London, United Kingdom) to an older patient population with small aortic annuli. This study aimed to assess the incidence of SVD and its effect on patient survival and need for reoperation. MATERIALS AND METHODS: Two hundred five patients (aged 75...
September 28, 2016: Journal of Thoracic and Cardiovascular Surgery
P-A Barral, M Saeed-Kilani, F Tradi, A Dabadie, J Izaaryene, J Soussan, J-M Bartoli, V Vidal
PURPOSE: The purpose of this study was to evaluate the effectiveness of ethylene vinyl alcohol copolymer (Onyx) as a single embolic agent for percutaneous arterial treatment of hemorrhage due to uterine arteriovenous malformations (AVMs). MATERIALS AND METHODS: Twelve women (mean age, 33 years) with metrorrhagia due to uterine AVMs who were treated by percutaneous arterial embolization using Onyx as a single embolic agent were retrospectively included. The diagnosis of uterine AVM was suggested by pelvic ultrasound and/or magnetic resonance imaging findings and further confirmed by angiography...
October 21, 2016: Diagnostic and Interventional Imaging
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