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atypical development

Raluca Grădinaru, Nicoleta Andreescu, Laura Nussbaum, Liana Suciu, Maria Puiu
BACKGROUND: Treatment with atypical antipsychotics is today the election therapy for different types of psychosis, but there is a high incidence of endocrine and metabolic disturbances. One of the major enzymes involved in the metabolism of antipsychotics is CYP2D6. Depending on the existing CYP2D6 alleles, the metabolic capacity of the enzyme may vary from very low to very high, so that patients can be grouped into four phenotypic groups: slow, intermediate, extensive (normal), and fast metabolizers...
February 15, 2019: Irish Journal of Medical Science
Katarzyna Chyl, Agnieszka Dębska, Magdalena Łuniewska, Artur Marchewka, Bartosz Kossowski, Kenneth R Pugh, Katarzyna Jednoróg
OBJECTIVE: Reduced activation to print in the left ventral, dorsal and anterior pathways has been implicated in readers with dyslexia (DR) but is also characteristic for typical beginning readers. As the majority of studies compared DR to their age-matched peers, the observed results could either represent a dyslexia phenotype or a developmental delay. We aimed to disentangle reading and dyslexia effects by employing two control groups: age and skill matched, and a longitudinal design...
December 6, 2018: Journal of the American Academy of Child and Adolescent Psychiatry
Hielko Miljoen, Joris Ector, Christophe Garweg, Johan Saenen, Wim Huybrechts, Andrea Sarkozy, Rik Willems, Hein Heidbuchel
AIMS: Prolonged participation in exercise results in structural and electrical cardiac remodelling. The development of an athlete's heart is recognized as a risk factor for atrial arrhythmias. This study aims to evaluate the impact of athlete heart remodelling on the presentation of atrioventricular nodal re-entrant tachycardia (AVNRT). METHODS AND RESULTS: A retrospective analysis of an ablation database selecting all patients with an electrophysiologically confirmed diagnosis of AVNRT...
February 14, 2019: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Kate McKeage
Ravulizumab (ravulizumab-cwvz; ULTOMIRIS™), a humanized monoclonal antibody, is a complement C5 inhibitor developed by Alexion Pharmaceuticals for the treatment of paroxysmal nocturnal haemoglobinuria (PNH) and atypical haemolytic uraemic syndrome (aHUS). Like the first-generation C5 inhibitor, eculizumab, ravulizumab binds specifically and with high affinity to the complement protein C5, thereby preventing formation of the terminal complement complex C5b-9, which mediates cell lysis. In December 2018, intravenous ravulizumab received its first global approval in the USA for the treatment of adults with PNH, and is under regulatory review in the European Union and Japan in this indication...
February 14, 2019: Drugs
Pradeepthi Badugu, Modupe Idowu
Here we report a case of atypical thrombotic thrombocytopenic purpura that presented as an ischemic cerebrovascular accident. A 56-year-old man with multiple cardiovascular risk factors presented with sudden left-sided weakness, slurred speech, and left facial droop. He showed mild improvement when he was treated with thrombolytic therapy according to the hospital stroke protocol. Later in the course, he developed thrombocytopenia followed by schistocytes revealed by peripheral blood smear and other lab abnormalities...
2019: Case Reports in Hematology
Benjamin Gerhardy
We describe a patient with underlying HIV presenting with progressive respiratory distress and acute renal failure. A unifying diagnosis of microscopic polyangiitis was made. Following immunosuppression induction with plasma exchange and intravenous corticosteroid and subsequent maintenance immunosuppression with intravenous cyclophosphamide in conjunction with renal replacement therapy he achieved remission. To our knowledge this is the first documented case of microscopic polyangiitis occurring in the context of underlying HIV, and raises interesting possibilities regarding the development of vasculitis in this patient...
April 2019: Respirology Case Reports
Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Alessandra Govoni
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of mitochondrial energy metabolism. Although childhood is the typical age of onset, a small fraction (1-6%) of individuals manifest the disease after 40 years of age and usually have a less aggressive disease course. The clinical manifestations are variable and mainly depend on the degree of heteroplasmy in the patient's tissues and organs...
2019: Frontiers in Neurology
Mina Waraya, Keiko Hayashi, Madoka Inukai, Kouichi Yamamoto, Takeyoshi Habiro, Sayuri Oshida, Yoshimasa Kosaka, Norihiko Sengoku, Masahiko Watanabe
The patient was a 50-year-old woman. She had been diagnosed with bilateral breast tumors at another hospital 5 years previously and was followed up every 2 months. Ultrasonography showed hypoechoic masses in her breasts. The largest tumor in the right breast was 15mm in diameter and located in region A, while that in the left breast was 8mm in diameter and located in region B. Magnetic resonance imaging(MRI)showed multiple bilateral breast tumors. The largest tumor was 12mm in diameter and was suggestive of breast cancer...
January 2019: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Jacob A Doll, W Schuyler Jones, Yuliya Lokhnygina, Sara Culpepper, Robin L Parks, Christy Calhoun, David H Au, Manesh R Patel
Background Guidelines recommend patient engagement in shared decision-making regarding coronary revascularization, but studies demonstrate poor patient understanding of risks, benefits, and alternatives. Effective strategies are needed to integrate informed patient preferences into clinical care, particularly for patients undergoing diagnostic coronary angiography. Methods and Results We developed a web-based decision aid to educate patients and survey their treatment preferences before angiography. We compared knowledge, attitudes, and preferences of 203 patients with and without use of the decision aid...
February 2019: Circulation. Cardiovascular Quality and Outcomes
Takanori Ochi, Asuka Ishiyama, Yuta Yazaki, Hiroshi Murakami, Masahiro Takeda, Shogo Seo, Ryo Sueyoshi, Geoffrey J Lane, Hidenori Haruna, Toshiaki Shimizu, Atsuyuki Yamataka
INTRODUCTION: To review the surgical treatment of hypospadias (HP) associated with disorders of sex development (DSD). PATIENTS AND METHODS: HP cases were assessed for DSD by gross examination for atypical external genitalia, and assessment of hormone levels and karyotype. There were 58 HP cases with concomitant DSD treated between 1999 and 2017. DSD classification, type of HP, sex assignment, hormonal abnormality, surgical strategy, and post-urethroplasty complications (post-UPC) were reviewed...
February 14, 2019: Pediatric Surgery International
Marion de La Harpe, Stefano di Bernardo, Michaël Hofer, Nicole Sekarski
Kawasaki disease is an acute vasculitis with a particular involvement of the coronary arteries. Coronary artery aneurysms develop in 20% of untreated children. It has been shown that early treatment with intravenous immunoglobulins and aspirin decreases this risk to 5%, but the medium to long term prognosis of children with Kawasaki disease is still unclear. To determine the outcome of the disease and risk factors for poor evolution, we reviewed retrospectively the medical records of all patients with a diagnosis of Kawasaki disease at our Institution between 1981 and 2014...
2019: Frontiers in Pediatrics
Takeo K Maeda, Daisuke Sugiura, Il-Mi Okazaki, Takumi Maruhashi, Taku Okazaki
T cell activation is tightly regulated by both stimulatory and inhibitory co-receptors and has been a focus in the development of interventions for managing cancer or autoimmune diseases. Targeting the inhibitory co-receptors programmed cell death 1 (PD-1) and cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) has successfully eradicated tumors but induced immune-related adverse-events in human and mice. The beneficial and adverse effects of targeting these co-receptors highlight their importance in cancer immunity and also autoimmunity...
February 13, 2019: Journal of Biological Chemistry
Gabriele Donicht, Marizete Ilha Ceron, Márcia Keske-Soares
PURPOSE: To verify and correlate the spelling errors present in the written productions to the performance in phonological awareness skills of children in different school years, with typical and atypical phonological development. METHODS: The sample consisted of 50 children divided into two groups: with typical phonological development (TPD) and with atypical phonological development (APD); students from the early years (1st to 5th grades) of schooling and ages between 6:0 and 10:0 years old...
February 11, 2019: CoDAS
Hsiang-Yuan Lin, Alistair Perry, Luca Cocchi, James A Roberts, Wen-Yih Isaac Tseng, Michael Breakspear, Susan Shur-Fen Gau
Structural neuroimaging studies suggest altered brain maturation in autism spectrum disorder (ASD) compared with typically developing controls (TDC). However, the prognostic value of whole-brain structural connectivity analysis in ASD has not been established. Diffusion magnetic imaging data were acquired in 27 high-functioning young ASD participants (2 females) and 29 age-matched TDC (12 females; age 8-18 years) at baseline and again following 3-7 years. Whole-brain structural connectomes were reconstructed from these data and analyzed using a longitudinal statistical model...
February 12, 2019: Translational Psychiatry
Carine Mekoguem, Cécile Triboulet, Alexandre Gouveia
BACKGROUND: Mycetoma is a neglected infectious disease caused by a fungus (eumycetoma) or bacteria (actinomycetoma); it is characterized by chronic local inflammation with sinus formation and purulent discharge. Its course can be quite devastating because of the difficulty in diagnosing the infection and in eliminating the causative agent. Although endemic in many countries in the tropics and subtropics, the migration of Africans to Europe may increase the presence of this neglected disease in European countries...
February 12, 2019: Journal of Medical Case Reports
Tadeja Lukežič, Antoine Abou Fayad, Chantal Bader, Kirsten Harmrolfs, Johannes Bartuli, Sebastian Groß, Urška Lešnik, Fabienne Hennessen, Jennifer Herrmann, Špela Pikl, Hrvoje Petković, Rolf Müller
To combat the increasing spread of antimicrobial resistance and the shortage of novel anti-infectives, one strategy for the development of new antibiotics is to optimize known chemical scaffolds. Here, we focus on the biosynthetic engineering of Amycolatopsis sulphurea for derivatization of the atypical tetracycline chelocardin and its potent broad-spectrum derivative 2-carboxamido-2-deacetyl-chelocardin. Heterologous biosynthetic genes were introduced into this chelocardin producer to modify functional groups and generate new derivatives...
February 12, 2019: ACS Chemical Biology
Heather A Morgans, Kathleen F Mallett, Judith F Sebestyen Vansickle, Bradley A Warady
This case report discusses a pediatric patient who developed a hemodialysis catheter line infection from an uncommon etiology, Mycobacterium fortuitum. The initial presentation revealed a well appearing patient with a slow growing skin lesion near the site of the hemodialysis catheter. The treatment course was complicated by resistance to initial antibiotics leading to continued spread of the lesion. The diagnosis was confirmed via skin biopsy of the lesion that required 2 weeks to grow the atypical Mycobacterium...
February 12, 2019: Hemodialysis International
Laura Rosas, Kavya Rao, Christine McGough, Ashley Becker
The authors describe a 12-year-old girl with an atypical presentation of Bartonella encephalitis. She presented with fever and altered mental status and developed flaccid paralysis of her left upper extremity a day later. An electroencephalogram showed slowing over her right hemisphere. She had mild leukocytosis and bandemia, but her imaging and cerebrospinal studies were unrevealing. After five days, her symptoms resolved and she was discharged home on doxycycline due to suspicion for Bartonella encephalitis...
2019: Child Neurology Open
Lavanya P Sharma, Y C Janardhan Reddy
Obsessive Compulsive Disorder (OCD) and Obsessive Compulsive Symptoms (OCS) are known to be highly comorbid with bipolar disorder and schizophrenia. Comorbid OCD/OCS influences the course of schizophrenia and bipolar disorder. There is also some evidence to suggest that a diagnosis of OCD may be associated with elevated risk for later development of psychosis and bipolar disorder. Comorbid OCD/OCS is associated with a greater severity of schizophrenia phenotype and poorer prognosis. In addition, certain atypical antipsychotics, clozapine in particular are known to induce or worsen OCS in schizophrenia...
January 2019: Indian Journal of Psychiatry
José Manuel Sánchez-Villalobos, Amaya Jimeno-Almazán, Carmen López-Peña, Esther Hernández-Hortelano, Antonio Martínez-Francés, José Antonio Pérez-Vicente
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that presents potential impairment of the central nervous system (CNS). Frequent CNS impairment makes ECD a disease worth considering in the differential diagnosis of multiple sclerosis (MS). We report the case of a patient initially diagnosed with relapsing-remitting MS with an atypical course who developed ECD during the disease progression. Given the patient's clinical-radiological characteristics, two diagnostic possibilities were proposed: the coexistence of both diseases or a new presentation of ECD mimicking MS...
February 6, 2019: Multiple Sclerosis and related Disorders
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