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Leif Karlsson, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Dexamethasone (DEX) is used to prevent prenatal virilization in female fetuses with congenital adrenal hyperplasia (CAH). Since treatment has to be started before the genotype of the fetus is known, 7 out of 8 fetuses will be exposed to DEX without benefit. Previously, we have observed negative effects on cognition and behavior in DEX treated children. Here we evaluated neuropsychological functions, psychopathology and autistic traits in non-CAH DEX-treated adults exposed during the first trimester of fetal life (duration 6...
March 1, 2018: Psychoneuroendocrinology
Ellen N Kersh, Sheila A Lukehart
The first session at the 2016 Syphilis Summit provided an opportunity for laboratory researchers and clinicians to comment on gaps in biomedical knowledge and technologies. Predominant themes in the presentations and discussion included the need for optimization of existing diagnostic tests, commercial availability and FDA approval of nucleic acid amplification tests for primary and secondary syphilis, development of sensitive and specific new blood tests for diagnosis of active (vs. treated) syphilis infection, clarification of the best measures for adequacy of response to treatment, continued study of complications of syphilis including neuro- and ocular syphilis, and development of a safe and effective vaccine that will protect against transmission and complications of disseminated infection (including congenital and neurosyphilis)...
March 9, 2018: Sexually Transmitted Diseases
Kristina Adachi, Jiahong Xu, Bonnie Ank, D Heather Watts, Margaret Camarca, Lynne M Mofenson, Jose Henrique Pilotto, Esau Joao, Glenda Gray, Gerhard Theron, Breno Santos, Rosana Fonseca, Regis Kreitchmann, Jorge Pinto, Marisa M Mussi-Pinhata, Daisy Maria Machado, Mariana Ceriotto, Mariza G Morgado, Yvonne J Bryson, Valdilea G Veloso, Beatriz Grinsztejn, Mark Mirochnick, Jack Moye, Karin Nielsen-Saines
BACKGROUND: Congenital cytomegalovirus (CMV) infection (cCMV) is an important cause of hearing loss and cognitive impairment. Prior studies suggest that HIV-exposed children are at higher risk of acquiring cCMV. We assessed the presence, magnitude, and risk factors associated with cCMV among infants born to HIV-infected women, who were not receiving antiretrovirals during pregnancy. METHODS: cCMV and urinary CMV load were determined in a cohort of infants born to HIV-infected women not receiving antiretrovirals during pregnancy...
March 9, 2018: Pediatric Infectious Disease Journal
Jun Qiao, Lingyan Xiao, Leilei Xu, Bangping Qian, Zezhang Zhu, Yong Qiu
STUDY DESIGN: This is a genetic association study. OBJECTIVE: To investigate association between suppressor of cytokine signaling-3 (SOCS3) gene polymorphisms and the onset and progression of lumbar adolescent idiopathic scoliosis (AIS) and to further clarify its role in the regulation of SOCS3 expression in AIS patients. SUMMARY OF BACKGROUND DATA: Some studies showed that muscle development imbalance may be responsible for onset and progression of lumbar AIS...
March 9, 2018: Clinical Spine Surgery
John D Gilbert, Roger W Byard
Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth. A wide range of manifestations may result in unexpected and/or early death, including congenital cardiac malformations and tumours, epilepsy, intra-tumoural haemorrhage or embolism and bleeding diatheses. A case of lethal pulmonary fat embolism complicating revision of a left total hip replacement following spontaneous fracture is reported in a 39-year-old man with Sotos syndrome...
January 1, 2018: Medicine, Science, and the Law
Manuela Malaspina, Andrea Albonico, Junpeng Lao, Roberto Caldara, Roberta Daini
OBJECTIVE: Recent evidence showed that individuals with congenital face processing impairment (congenital prosopagnosia [CP]) are highly accurate when they have to recognize their own face (self-face advantage) in an implicit matching task, with a preference for the right-half of the self-face (right perceptual bias). Yet the perceptual strategies underlying this advantage are unclear. Here, we aimed to verify whether both the self-face advantage and the right perceptual bias emerge in an explicit task, and whether those effects are linked to a different scanning strategy between the self-face and unfamiliar faces...
February 2018: Neuropsychology
Batha Tariq, Ayesha Ahmed, Atif Habib, Ali Turab, Noshad Ali, Sajid Bashir Soofi, Shanila Nooruddin, Rekha J Kumar, Amin Tariq, Fariha Shaheen, Shabina Ariff
Background: Most congenital hypothyroidism (CH) is not avertable; however, the adverse effects of CH are preventable with early detection and treatment. It is a common congenital endocrine disorder that affects 1 in 2000-4000 newborns globally. The true incidence in Pakistan is unknown. Data from hospital studies quote an incidence of 1 in 1600-2000. The aim of this study was to uncover existing knowledge of CH and screening for the condition and to assess the impact of health education on mothers' knowledge and attitudes towards having their newborns screened...
March 8, 2018: International Health
Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
G N Cagatay, A Antos, D Meyer, C Maistrelli, O Keuling, P Becher, A Postel
The recently identified atypical porcine pestivirus (APPV) was demonstrated to be the causative agent of the neurological disorder "congenital tremor" in newborn piglets. Despite its relevance and wide distribution in domestic pigs, so far nothing is known about the situation in wild boar, representing an important wild animal reservoir for the related classical swine fever virus. In this study, 456 wild boar serum samples obtained from northern Germany were investigated for the presence of APPV genomes and virus-specific antibodies...
March 12, 2018: Transboundary and Emerging Diseases
F Mohammadpour Lashkari, M A Sadighi Gilani, A Ghaheri, M R Zamanian, P Borjian Boroujeni, A Mohseni Meybodi, M Sabbaghian
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history...
March 12, 2018: Andrologia
D Diaz-Aguilar, T Niu, S Terterov, R Scharnweber, A Tucker, J Woodard, H Brara, C Merna, H Shah, S Wang, S Rahman
Background: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age...
2018: Surgical Neurology International
Rachel Levene, Elza Pollak-Christian, Ashish Garg, Michael Keenaghan
Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1 ) initiation...
2018: Case Reports in Pediatrics
Shraddha Siwakoti, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Introduction: Pantoea agglomerans, primarily an environmental and agricultural organism has been reported as both commensal and pathogen of humans. We present two case reports of P. agglomerans infections in children that involved the meninges and bloodstream. Case Presentations: A 6-month-old female baby, diagnosed as congenital hydrocephalus secondary to aqueduct stenosis with ventriculoperitoneal shunt in situ, operated 14 days back was brought to the pediatric emergency with a two-day history of high fever associated with vomiting, irritability, excessive crying, and decreased feeding...
2018: Case Reports in Pediatrics
Abigail Culshaw, Juthathip Mongkolsapaya, Gavin Screaton
Zika virus (ZIKV) was initially thought to cause only mild, self-limiting symptoms. However, recent outbreaks have been associated with the autoimmune disease Guillain-Barré syndrome and causally linked to a congenital malformation known as microcephaly. This has led to an urgent need for a safe and effective vaccine. A comprehensive understanding of the immunology of ZIKV infection is required to aid in the design of such a vaccine. Whilst details of both innate and adaptive immune responses to ZIKV are emerging, further research is needed...
2018: F1000Research
Solina Tith, Garinder Bining, Laurent Bollag
Background : Opioid use during pregnancy is a growing concern in the United States. Buprenorphine has been recommended by "The American College of Obstetrics and Gynecology" as an alternative to methadone to decrease risks associated with the use of illicit opioids during pregnancy. The partial μ-opioid agonists' unique pharmacology, including its long half time and high affinity to the μ-opioid receptor, complicates patient management in a highly kinetic, and often urgent field like obstetric anesthesia...
2018: F1000Research
Yoshinari Enomoto, Go Hashimoto, Naohiko Sahara, Hikari Hashimoto, Hiroki Niikura, Keijiro Nakamura, Raisuke Iijima, Hidehiko Hara, Makoto Suzuki, Mahito Noro, Masao Moroi, Kaoru Sugi, Masato Nakamura
A 70-years-old male with a history of hypertension and drug resistant paroxysmal atrial fibrillation (AF) presented to our hospital for catheter ablation to his symptomatic AF. He had no prior surgical or percutaneous procedure to close or exclude the left atrial appendage (LAA). A transesophageal echocardiography (TEE) was performed to rule out intra-cardiac thrombus prior to the ablation procedure. Although the TEE imaging at multiple acquisition angles was obtained, the LAA could not be visualized and an absence of the LAA was suspected...
March 12, 2018: International Heart Journal
Chun-Ho Park, Nozomi Shiwa, Kazunori Kimitsuki, Takehito Kakizaki, Daisaku Watanabe
This case report describes a congenital ganglioneuroblastoma in a 38-day-old male Japanese Black calf. The cervical multinodular mass was present at birth and grew rapidly. The cut surface was pale gray-to-yellow and had a gelatinous appearance. Hemorrhagic cysts of various sizes were observed in the nodule. Histologically, the mass contained clusters of neuroblastic cells, ganglionic cells, and Schwann-like cells. Immunohistochemically, the ganglionic cells showed strong positivity for neuron-specific enolase, neurofilament, synaptophysin, and chromogranin A, whereas the Schwann-like cells strongly expressed S-100, glial fibrillary acidic protein, and vimentin...
March 9, 2018: Journal of Veterinary Medical Science
Asanka Jayawardane, Malitha Patabendige, Dulani Samaranayake, Medini Boteju, Shamalka Dahanayake, Ruvini Perera, Sumudu Jayasinghe, Dakshila Galappatti, C N Wijeyaratne
AIM: To study case mix, risk factors, adverse outcomes and associations of hyperglycemia in pregnancy in a cohort of Sri Lankans. METHODS: Prospective observational study, from April 2011-October 2015 at a tertiary care referral center, Colombo, Sri Lanka. Data from first trimester to delivery of HIP was analyzed. Three subgroups were defined: Diabetes in pregnancy (DIP), Hyperglycemia in early Pregnancy (HIEP) [<24 weeks] and Gestational diabetes (GDM) [>24 weeks]...
March 8, 2018: Diabetes Research and Clinical Practice
Patricio E Lau, Stephanie M Cruz, Elena C Ocampo, Sushma Nuthakki, Candace C Style, Timothy C Lee, David E Wesson, Oluyinka O Olutoye
PURPOSE: The purpose of this study was to evaluate the characteristics of patients with congenital heart disease (CHD) who developed necrotizing enterocolitis (NEC). METHODS: A retrospective review of neonates with CHD at a tertiary care center between January 2006 and January 2016 was performed. Diagnosis of NEC was based on modified Bell's criteria. Patients were grouped by Risk Adjustment for Congenital Heart Surgery (RACHS-1) or by ductal-dependent (DD) lesions that require a patent ductus arteriosus to supply pulmonary or systemic circulation...
February 7, 2018: Journal of Pediatric Surgery
Nilson N Mendes Neto, Jessika Thais da Silva Maia, Marcelo Rodrigues Zacarkim, Igor Queiroz, Angelle Desiree Labeaud, David M Aronoff
No abstract text is available yet for this article.
December 12, 2017: Pediatric Neurology
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