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https://www.readbyqxmd.com/read/29908350/exome-sequencing-identified-a-de-novo-mutation-of-pura-gene-in-a-patient-with-familial-xp22-31-microduplication
#1
Ying Qiao, Hani Bagheri, Flamingo Tang, Chansonette Badduke, Sally Martell, Suzanne M E Lewis, Wendy Robinson, Mary B Connolly, Laura Arbour, Evica Rajcan-Separovic
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather. We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22...
June 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29908030/cutaneous-involvement-in-an-8-year-old-boy-with-ras-associated-autoimmune-leucoproliferative-disorder-rald
#2
A Giacaman, A Bauzá Alonso, J A Salinas Sanz, J L Dapena Díaz, R Ramos Asensio, L Ferrés Ramis, M A Durán Pastor, A Martín-Santiago
Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected...
June 16, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29907975/metabolite-assignment-of-ultra-filtered-synovial-fluid-extracted-from-knee-joints-of-reactive-arthritis-patients-using-high-resolution-nmr-spectroscopy
#3
Durgesh Dubey, Smriti Chaurasia, Anupam Guleria, Sandeep Kumar, Dinesh Raj Modi, Ramnath Misra, Dinesh Kumar
Currently, there are no reliable clinical biomarkers available that can aid early differential diagnosis of reactive arthritis (ReA) from other inflammatory joint diseases. Metabolic profiling of synovial fluid (SF) -obtained from joints affected in ReA- holds great promise in this regard and will further aid monitoring treatment and improving our understanding about disease mechanism. As a first step in this direction, we report here the metabolite specific assignment of 1 H and 13 C resonances detected in the NMR spectra of SF samples extracted from human patients with established ReA...
June 15, 2018: Magnetic Resonance in Chemistry: MRC
https://www.readbyqxmd.com/read/29907798/congenital-hyperinsulinism-as-the-presenting-feature-of-kabuki-syndrome-clinical-and-molecular-characterization-of-10-affected-individuals
#4
Kai Lee Yap, Amy E Knight Johnson, David Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George S Jeha, Lindsay C Burrage, Olaf Bodamer, Valeria C Benavides, Andrea M Lewis, Sian Ellard, Pratik Shah, Declan Cody, Alejandro Diaz, Aishwarya Devarajan, Lisa Truong, Siri Atma W Greeley, Diva D De Leó-Crutchlow, Andrew C Edmondson, Soma Das, Paul Thornton, Darrel Waggoner, Daniela Del Gaudio
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical features and molecular diagnoses of 10 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907757/set-de-novo-frameshift-variants-associated-with-developmental-delay-and-intellectual-disabilities
#5
Ruth Richardson, Miranda Splitt, Ruth Newbury-Ecob, Alice Hulbert, Joanna Kennedy, Astrid Weber
Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.
June 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29907740/single-breath-hold-photoacoustic-computed-tomography-of-the-breast
#6
Li Lin, Peng Hu, Junhui Shi, Catherine M Appleton, Konstantin Maslov, Lei Li, Ruiying Zhang, Lihong V Wang
We have developed a single-breath-hold photoacoustic computed tomography (SBH-PACT) system to reveal detailed angiographic structures in human breasts. SBH-PACT features a deep penetration depth (4 cm in vivo) with high spatial and temporal resolutions (255 µm in-plane resolution and a 10 Hz 2D frame rate). By scanning the entire breast within a single breath hold (~15 s), a volumetric image can be acquired and subsequently reconstructed utilizing 3D back-projection with negligible breathing-induced motion artifacts...
June 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29907136/wilson-s-disease-combined-with-systemic-lupus-erythematosus-a-case-report-and-literature-review
#7
Yun Zhang, Dongmei Wang, Wei Wei, Xuejun Zeng
BACKGROUND: Wilson's disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Systemic lupus erythematosus (SLE) is a multi-system disorder that can manifest in any system. Cases with concomitant WD and SLE, unrelated to treatment with penicillamine, have been rarely reported. CASE PRESENTATION: We report a case of a young woman who had typical neuropsychiatric symptoms and laboratory tests results of WD...
June 15, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29906625/computed-tomography-and-magnetic-resonance-imaging-findings-of-pancreatic-hamartoma-a-case-report-and-literature-review
#8
Yeo Eun Han, Beom Jin Park, Deuk Jae Sung, Min Ju Kim, Na Yeon Han, Ki Choon Sim, Sung Bum Cho, Joo Young Kim
Pancreatic hamartoma is a rare benign malformation that resembles a neoplasm and may be mistaken for a malignancy. The imaging findings of pancreatic hamartoma are not well established, as only one radiological case report has been described since 1983. Herein, we discussed a case of pancreatic hamartoma in a 35-year-old woman and conducted a literature review focused on imaging findings and differential diagnosis of pancreatic hamartoma. Increased late enhancement on post-contrast dynamic study and absence of diffusion restriction may be characteristic MR imaging findings of pancreatic hamartoma that may narrow the differential diagnosis of hypervascular pancreatic lesions...
June 6, 2018: Clinical Imaging
https://www.readbyqxmd.com/read/29906381/points-pearls-management-of-multiply-injured-pediatric-trauma-patients-in-the-emergency-department
#9
Andria Tatem, Rupa Kapoor, Bryan Wilson
Management of the child with multiple traumatic injuries can be challenging, and important injuries may not be readily recognized. Early recognition of serious injuries, initiation of appropriate diagnostic studies, and rapid stabilization of injuries are key to decreasing morbidity and mortality in the multiply injured pediatric trauma patient. The differential diagnosis for these patients is wide, and treatment is targeted to the specific injuries. In this issue, a systematic approach to the multiply injured pediatric patient will be reviewed, with specific attention to commonly missed injuries and those injuries that may cause significant morbidity or mortality...
June 1, 2018: Pediatric Emergency Medicine Practice
https://www.readbyqxmd.com/read/29906042/primary-umbilical-endometriosis-villar%C3%A2-s-nodule-case-report
#10
Denise Niza Benardete-Harari, José Manuel Muñoz-de Cote Frade, Jaime Antonio Hidalgo-Carrera, Alberto Felgueres-Hermida, Diego Meraz-Ávila
Background: Umbilical endometriosis or Villar’s nodule is uncommon. Incidence goes up to 0.5-1.2% of all patients with endometriosis. As far as 2012, only 109 cases of umbilical endometriosis have been reported worldwide, there is no incidence reports in Mexico. Clinically, it’s a solitary node, solid and well defined, colored red, blue or black and it’s ocassionally accompanied by bleeding and dysmenorrhea. The treatment can be medical or surgical and it consists of painkillers, and hormonal suppression using GnRH analogues, hormonal contraceptives, danazol or progesterone...
March 2018: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29905921/pediatric-inpatient-and-emergency-dermatology-consultations-a-5-year-retrospective-analysis
#11
Mariana Cruz-Manzano, Cristina N Brau-Javier, Sheila Valentín-Nogueras, Luz D Figueroa-Guzmán
OBJECTIVE: To characterize and analyze the inpatient and emergency pediatric dermatology consults in our academic hospital center. METHODS: We reviewed 485 consultations that were done by the University of Puerto Rico Department of Dermatology from July 2007 to June 2012. The date, patient age and gender, consulting service, presumptive diagnosis, final diagnosis, and diagnostic procedures performed were documented for each consult. RESULTS: The patients' ages ranged from newborn to 18 years; the 13 to 18 years age group was the most common (29%)...
June 2018: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/29905640/imaging-investigation-of-thyroid-eye-disease
#12
Loizos C Siakallis, Jimmy M Uddin, Katherine A Miszkiel
INTRODUCTION: Thyroid eye disease (TED), is a term referring to the extrathyroidal manifestation of Grave's disease, a disorder which is currently the most common cause of hyperthyroidism and is characterised by underlying autoimmunity.The pathogenic course of the disease can be broadly classified into two stages, an early inflammatory and a late fibrotic stage. These stages are reflected in clinical severity and activity classifications, such as Clinical Activity Score and Class 0: No signs or symptoms, 1: Only signs, no symptoms (e...
June 13, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29905581/torticollis-caused-by-nontraumatic-craniovertebral-junction-abnormalities
#13
Sunghoon Park, Ji-Eun Woo, Sanghyun Kim, Shin-Young Yim
Torticollis could be the only symptom and sign of craniovertebral junction (CVJ) abnormality. It could be difficult to identify CVJ abnormality as a cause of torticollis due to their rarity, especially for the subjects with torticollis caused by nontraumatic CVJ abnormalities. There has been no report to focus on nontraumatic CVJ abnormalities as a cause of torticollis. The objective of this study was to report 27 patients of torticollis caused by nontraumatic CVJ abnormalities, with the aim of helping clinicians to identify nontraumatic CVJ abnormalities as a cause of torticollis...
June 13, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29904888/olfactory-dysfunction-in-neurodegenerative-diseases
#14
REVIEW
Concepció Marin, Dolores Vilas, Cristóbal Langdon, Isam Alobid, Mauricio López-Chacón, Antje Haehner, Thomas Hummel, Joaquim Mullol
PURPOSE OF REVIEW: The sense of smell is today one of the focuses of interest in aging and neurodegenerative disease research. In several neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, the olfactory dysfunction is one of the initial symptoms appearing years before motor symptoms and cognitive decline, being considered a clinical marker of these diseases' early stages and a marker of disease progression and cognitive decline. Overall and under the umbrella of precision medicine, attention to olfactory function may help to improve chances of success for neuroprotective and disease-modifying therapeutic strategies...
June 15, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29904831/pain-in-optic-neuropathies
#15
Stefania Bianchi Marzoli, Alessandra Criscuoli
Pain occurs with optic neuropathies associated with inflammatory central nervous system diseases (MS and NMO), idiopathic intracranial hypertension and spontaneous hypotension, giant cell arteritis, immunomediated systemic diseases, compressive lesions, or infective disorders. Pain can precede the onset of visual loss in acute optic neuritis, it can be irradiated to the orbital region in giant cell arteritis and parasellar compressive optic neuropathies, or it may be located to the back of the eye with posterior scleritis...
June 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29904803/atypical-cutaneous-presentations-of-sarcoidosis-two-case-reports-and-review-of-the-literature
#16
REVIEW
David L Leverenz, Christopher Henderson, Ankoor Shah
PURPOSE OF REVIEW: The goal of this review is to provide the reader with an updated summary of the cutaneous manifestations of systemic sarcoidosis, with a particular emphasis on the predilection of sarcoidosis for scars, tattoos, and other areas of traumatized skin. RECENT FINDINGS: While the mechanism underlying the propensity for traumatized skin to develop sarcoidosis lesions remains unclear, several theories have been proposed including the idea that cutaneous sarcoidosis represents an exuberant, antigen-driven foreign-body response, as well as the theory that traumatized skin represents an immunocompromised district with altered local immune trafficking and neural signaling...
June 14, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29904593/case-report-pulmonary-and-liver-sarcoidosis-suspected-of-metastasis
#17
Behnam Jafari, Gholamabas Sabz, Elahe Masnavi, Roghaye Panahi, Saeid Jokar, Amrollah Roozbehi, Sajad Hasanzadeh
Introduction : Sarcoidosis is a granulomatous disease with unknown cause that can vary from an asymptomatic condition. Almost half of the patients with sarcoidosis have no symptoms. In this article, we describe a sarcoidosis patient with lung and liver engagement; it may be confused with metastasis. Case report : A 39-year-old man, known as hypothyroidism who had come to the emergency ward with dyspnea and coughing after exposure to detergents in a closed environment A 39-year-old man, known as hypothyroidism who had come to the emergency ward with dyspnea and coughing after exposure to detergents in a closed environment...
2018: F1000Research
https://www.readbyqxmd.com/read/29904489/intracardiac-extension-of-intravenous-leiomyoma-a-rare-phenomenon-a-case-report
#18
Aileen Peña, Marvin Tamaña
Leiomyoma of uterine origin is a common histologically benign neoplasm in women; however, growth intravenously with intracardiac extension is a rare phenomenon. This is a diagnostic challenge that can present with varied clinical manifestations and multiple differential diagnosis. This is a case of a 45-year-old female patient with chest heaviness and an intracardiac mass on 2-dimensional (2D) echocardiogram. Previous history of hysterectomy was likewise noted. Imaging workup, including 2D echocardiogram and contrast-enhanced chest and abdomen computed tomography scans, was performed which demonstrated a large, heterogeneous, elongated filling defect in the right atrium and right ventricle extending to the inferior vena cava, left renal vein, and left gonadal vein...
April 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29904486/cystic-biliary-atresia-a-distinct-clinical-entity-that-may-mimic-choledochal-cyst
#19
Gary R Schooler, Alisha Mavis
Cystic biliary atresia (CBA) is a relatively uncommon but clinically significant variant of biliary atresia. The presence of a cyst in the hepatic hilum on imaging in an infant with cholestasis supports the diagnosis of CBA, but can also be seen in patients with a choledochal cyst-the main differential diagnosis in patients with CBA. The reported case outlines the clinical presentation and imaging findings in a patient with surgically confirmed and treated CBA and emphasizes the importance of distinguishing CBA from choledochal cyst at diagnostic imaging given the disparate timing and type of surgical treatment necessary for successful management of these distinct entities...
April 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29904485/scrotal-sac-leiomyoma-case-report-of-a-rare-benign-scrotal-mass
#20
Titilope Aluko, Zachary Masi, Jeffrey Tomaszewski, Pauline Germaine
Leiomyomas are benign mesenchymal tumors, the overwhelming majority of which are located in the uterus. Rare cases arise in other organs, including the scrotum, pelvis, bladder, and spermatic cord. This report evaluates the case of a 37-year-old man with a history of prior left inguinal hernia repair, who presented with a painless right scrotal mass. He first noticed the mass approximately 1 year prior to his initial visit. Subsequent ultrasound of the scrotum demonstrated a 5-cm circumscribed, hypoechoic, mildly vascular extratesticular mass located within the right hemiscrotum...
April 2018: Radiology Case Reports
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