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Recurrent strike

M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, G Bejerano, J A Bernstein, D Chitayat
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype...
October 13, 2016: Journal of Medical Genetics
Jonna Jalanka, Eero Mattila, Hanne Jouhten, Jorn Hartman, Willem M de Vos, Perttu Arkkila, Reetta Satokari
BACKGROUND: Faecal microbiota transplantation (FMT) is an effective treatment for recurrent Clostridium difficile infection (rCDI). It restores the disrupted intestinal microbiota and subsequently suppresses C. difficile. The long-term stability of the intestinal microbiota and the recovery of mucosal microbiota, both of which have not been previously studied, are assessed herein. Further, the specific bacteria behind the treatment efficacy are also investigated. METHODS: We performed a high-throughput microbiota profiling using a phylogenetic microarray analysis of 131 faecal and mucosal samples from 14 rCDI patients pre- and post-FMT during a 1-year follow-up and 23 samples from the three universal donors over the same period...
October 11, 2016: BMC Medicine
Kyle Thompson, Homa Majd, Christina Dallabona, Karit Reinson, Martin S King, Charlotte L Alston, Langping He, Tiziana Lodi, Simon A Jones, Aviva Fattal-Valevski, Nitay D Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A Barbosa, Michael A Simpson, Charu Deshpande, Sanna Puusepp, Penelope E Bonnen, Richard J Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R S Kunji, Robert W Taylor
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. Here, we describe the identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations...
October 6, 2016: American Journal of Human Genetics
Christian Fontaine, Jean-Christophe Porchet, Aurélien Aumar, Michel-Yves Grauwin, Nadine Nachef, Étienne Allart
OBJECTIVE: Beside the posterior leg compartment, spasticity of the hemiplegic patient can involve other muscle groups in the leg. Spasticity of the lateral compartment is responsible of a vertical clonus that may be confused with the clonus of the triceps surae (long fibular) or a transverse clonus (short fibular), and by the liveliness of the tendon reflex when striking their tendon. Beside recurrent botulinum toxin injections, this spasticity may be treated by a hyponeurotisation by partial section of the branches of the superficial fibular nerve to the muscle(s) concerned...
September 2016: Annals of Physical and Rehabilitation Medicine
Khuthala Mnika, Gift D Pule, Collet Dandara, Ambroise Wonkam
Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. Vaso-occlusive painful crises are associated with recurrent and long-term use of analgesics/opioids and hydroxyurea (HU) by people living with SCD. The present analysis offers a state-of-the-art expert review of the effectiveness of pharmacogenomics/genetics of pain management in SCD, with specific focus on HU and opioids...
October 2016: Omics: a Journal of Integrative Biology
Petr Szturz, Jan B Vermorken
The demographics of squamous cell carcinoma of the head and neck (SCCHN) is marked by a growing number of patients aged 65 and over, which is in line with global projections for other cancer types. In developed countries, more than half of new SCCHN cases are diagnosed in older people, and in 15 years from now, the proportion is expected to rise by more than 10%. Still, a high-level evidence-based consensus to guide the clinical decision process is strikingly lacking. The available data from retrospective studies and subset analyses of prospective trials suffer from a considerable underrepresentation of senior participants...
2016: Frontiers in Oncology
Catherine Le Stunff, Francoise Tilotta, Jérémy Sadoine, Dominique Le Denmat, Claire Briet, Emmanuelle Motte, Eric Clauser, Pierre Bougnères, Catherine Chaussain, Caroline Silve
In humans, activating mutations in the PRKAR1A gene cause acrodysostosis 1 (ACRDYS1). These mutations result in a reduction in PKA activation caused by an impaired ability of cAMP to dissociate mutant PRKAR1A from catalytic PKA subunits. Two striking features of this rare developmental disease are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling. We developed a knock-in of the recurrent ACRDYS1 R368X PRKAR1A mutation in the mouse. No litters were obtained from [R368X]/[+] females (thus no homozygous [R368X]/[R368X] mice)...
September 2, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Fathima Aaysha Cader, M Maksumul Haq, Sahela Nasrin, Md Rezaul Karim
BACKGROUND: Striking an adequate balance between bleeding risks and prevention of stent thrombosis can be challenging in the setting of percutaneous coronary intervention (PCI) with drug eluting stents (DES) in acute myocardial infarction (MI). This is more pronounced in patients treated with both low molecular weight heparin (LMWH) and dual antiplatelet therapy (DAPT). Prasugrel, a second generation thienopyridine with more potent platelet inhibition capability, is associated with significant bleeding risks...
2016: BMC Cardiovascular Disorders
Hao Zheng, Yuan Yang, Meng-Chao Wang, Sheng-Xian Yuan, Tao Tian, Jun Han, Jun-Sheng Ni, Jian Wang, Hao Xing, Wei-Ping Zhou
The caudal-type homeobox 1 (CDX1) transcription factor is a member of the caudal-related homeobox transcription factor gene family and has been reported to be down-regulated in a variety of cancers. However, the expression status and significance of CDX1 in hepatocellular carcinoma (HCC) is still controversial, and little is known about the role of CDX1 in HCC·In our previous study, we investigated the expression and clinical significance of CDX1 in HCC samples from 313 HCC patients. We found CDX1 was strikingly down-regulated in HCC samples...
September 2016: Surgical Oncology
Bharat Rekhi, Pawan Upadhyay, Manoj P Ramteke, Amit Dutt
Recurrent mutations in the myogenic transcription factor MYOD1 and PIK3CA were initially described in a subset of embryonal rhabdomyosarcomas. Recently, two independent studies demonstrated presence of MYODI (L122R) mutations as the basis to re-classify a spindle cell rhabdomyosarcoma, along with a sclerosing rhabdomyosarcoma, distinct from an embryonal rhabdomyosarcoma. We analyzed a much larger cohort of 49 primary rhabdomyosarcoma tumor samples of various subtypes, collected over a period of 9 years, for the presence of MYOD1 (L122R), PIK3CA (H1047), and PIK3CA (E542/E545) mutations, along with immunohistochemical analysis of desmin, myogenin, and MYOD1...
August 26, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
C Baykal, T Atci, A Polat Ekinci, N Buyukbabani
BACKGROUND: Information on frequency of melanoma and its clinicopathological subtypes derived from dermatology clinics in Turkey is limited. OBJECTIVE: As data about melanoma show clear differences due to geographic and ethnic distribution, we scrutinized the rich data of our dermatology centre in Istanbul. METHODS: Consecutive patients diagnosed with melanoma in a tertiary dermatology clinic during the last 19 years were retrospectively investigated about the clinical presentation of the skin lesions during admission, frequency of subtypes and localization of the tumour...
August 13, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Hong Jiang, Jinhua Wu, Shengzhong Ke, Yue Hu, Anxing Fei, Yan Zhen, Jin Yu, Kuichun Zhu
Congenial hypothyroidism (CH) is the most common congenital endocrine disease and is treatable when recognized early enough. We investigated the genetic variants in 12 children diagnosed with CH by newborn screening in Huangshi area central China. Twelve genes commonly involved in CH development were studied. Genomic DNA from peripheral blood was used to amplify all exons of the selected genes, and the constructed sequencing libraries were subjected to next generation high throughput DNA sequencing (NGS). Analysis of the sequencing results identified rare genetic variants in 11 of the 12 patients (91...
October 2016: European Journal of Medical Genetics
R T Wakai, W J Lutter
OBJECTIVE: To investigate the slow rhythm and its relationship to spindling in early infancy. METHODS: We analyzed sleep MEG recordings containing sleep spindles, taken from 7 normal, healthy subjects at conceptional age 46-63 weeks in 21 sessions. RESULTS: We show that the sleep MEG in early infancy contains a slow rhythm, centered at approximately 0.2Hz, which showed a striking association with spindling. The slow rhythm grouped sleep spindles, which were clock-like with a recurrence rate of approximately 0...
September 6, 2016: Neuroscience Letters
T B Strike, Y Feltrer, E Flach, S K Macgregor, S Guillaume
Disease due to non-tuberculous mycobacteria (NTM) is common in fish. Current recommendations focus on outbreak management by depopulating entire fish stocks and disinfecting tanks. Treatment is not advocated. Treatment may be appropriate, however, where individual, valuable fish are concerned. ZSL London Zoo managed an outbreak of mycobacteriosis in a valuable group of imported F1 captive-bred Australian lungfish (Neoceratodus fosteri) by depopulation, isolation, extensive testing and daily oral antibiotic treatment...
July 25, 2016: Journal of Fish Diseases
Fengling Li, Lei Liu
Epilepsy is a common and serious neurological disorder characterized by occurrence of recurrent spontaneous seizures, and emerging evidences support the association of mitochondrial dysfunction with epilepsy. Sirtuin 5 (SIRT5), localized in mitochondrial matrix, has been considered as an important functional modulator of mitochondria that contributes to ageing and neurological diseases. Our data shows that SIRT5 deficiency strikingly increased mortality rate and severity of response to epileptic seizures, dramatically exacerbated hippocampal neuronal loss and degeneration in mice exposed to Kainate (KA), and triggered more severe reactive astrogliosis...
2016: Frontiers in Cellular Neuroscience
Orhideja Stomnaroska-Damcevski, Elizabeta Petkovska, Snezana Jancevska, Dragan Danilovski
Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Maintaining glucose homeostasis is one of the important physiological events during fetal-to-neonatal transition. Transient low blood glucose concentrations are frequently encountered in the majority of healthy newborns and are the reflections of normal metabolic adaptation processes. Nevertheless, there is a great concern that prolonged or recurrent low blood glucose levels may result in long-term neurological and developmental consequences...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Xiao Chen, Li Wei, Song Zhao
miR-338 as an intronic miRNA from apoptosis-associated tyrosine kinase (AATK) is involved in tumor proliferation and apoptosis, but its function and regulatory mechanism in lung cancer is still obscure. In the present study, we found that miR-338 was strikingly downregulated in 115 lung cancer tissues and 5 lung cancer cell lines. Besides, low level of miR-338 was associated with tumor emboli, TNM stage, tumor recurrence and poor survival. Regaining the expression of miR-338 in lung cancer cell lines significantly impaired cellular adhesion, migration, invasion and lung tumor formation in nude mice...
September 2016: Oncology Reports
Han-Jui Lee, Hsiao-Jen Chung, Hsin-Kai Wang, Shu-Huei Shen, Yen-Hwa Chang, Chun-Ku Chen, Hsiao-Ping Chou, Yi-You Chiou
OBJECTIVE: To determine the evolutionary MRI appearance of renal cell carcinoma (RCC) following cryoablation. METHODS: For this institution review board-approved study, we recruited patients with biopsy-proven RCC and treated them with percutaneous cryoablation between November 2009 and October 2014. Two radiologists retrospectively reviewed the pre-procedural and follow-up MRI. The findings included tumour sizes, signal intensities on T1 weighted imaging (T1WI), T2 weighted imaging (T2WI), diffusion-weighted imaging, apparent diffusion coefficient (ADC) map and contrast enhancement patterns...
September 2016: British Journal of Radiology
Jorge Torres-Mora, Nasir Ud Din, Albert William Ahrens, Andrew L Folpe
Perineuriomas are rare peripheral nerve sheath tumors arising from or differentiating along the lines of normal perineurial cells. They can be divided into intraneural and soft tissue types, with the latter category including a significant number of morphologic variants. Herein, we further expand their morphological spectrum to include "pseudolipoblastic" perineuriomas. These lesions occurred in the tongue of a 30year old male and in the triceps of a 67year old female and were characterized by bland, epithelioid cells with striking intracytoplasmic vacuolization...
July 6, 2016: Human Pathology
Jiahui An, Mengying Wu, Xiaoru Xin, Zhuojia Lin, Xiaonan Li, Qidi Zheng, Xin Gui, Tianming Li, Hu Pu, Haiyan Li, Dongdong Lu
Cancer stem cells are associated with tumor recurrence. IKK is a protein kinase that is composed of IKKα, IKKβ, IKKγ. Herein, we demonstrate that IKKα plus IKKβ promoted and IKKγ inhibited liver cancer stem cell growth in vitro and in vivo. Mechanistically, IKKα plus IKKβ enhanced and IKKγ inhibited the interplay among HP1α, HP1β and HP1γ that competes for the interaction among HP1α, SUZ12, HEZ2. Therefore, IKKα plus IKKβ inhibited and IKKγ enhanced the activity of H3K27 methyltransferase SUZ12 and EZH2, which methylates H3K27 immediately sites on HOTAIR promoter region...
June 29, 2016: Oncotarget
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