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A E Webb, I A Youngworth, M Kaya, C L Gitter, E A O'Hare, B May, H H Cheng, M E Delany
Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather malformations. Previously, work focused on phenotype description, establishing the autosomal recessive pattern of Mendelian inheritance and placing the mutation on an inbred genetic background to create the congenic line UCD Wingless-2.331. The research described in this paper employed the complementary tools of breeding, genetics, and genomics to map the chromosomal location of the mutation and successively narrow the size of the region for analysis of the causative element...
March 19, 2018: Poultry Science
Valentina Cardiello, Enrico Zecca, Mirta Corsello, Teresa Pianini, Francesca Serrao, Simonetta Costa, Francesco Cota
BACKGROUND: Hypernatremic dehydration is a complication of preterm infants with reportedly high morbility. In preterm infants, this happens due to a combination of low fluid intake, transepidermal water loss (TEWL), and immaturity of kidney function. Semipermeable membranes are self-adhesive membranes that can be applied as an artificial skin to reduce TEWL. AIMS: To test the hypothesis that early application of a semipermeable membrane (Tegaderm™) in preterm infants ≤30 weeks could result in a significant reduction of hypernatremia (serum Na > 145 mEq/l) during the first 15 days of life...
March 18, 2018: Early Human Development
Vanessa Couras Regadas, Márcio de Castro E Silva, Lucas Giansante Abud, Luiz Mario Pereira Lopes Labadessa, Rafael Gouvêa Gomes de Oliveira, Cecília Hissae Miyake, Rodolfo Mendes Queiroz
Currently Latin America is undergoing a major epidemic of Zika virus, which is transmitted by Aedes mosquitoes. Concern for Zika virus infection has been increasing as it is suspected of causing brain defects in newborns such as microcephaly and, more recently, potential neurological and autoimmune complications including Guillian-Barré syndrome and acute disseminated encephalomyelitis. We describe a case of virus infection in a 25-year-old woman during the first trimester of her pregnancy, confirmed by laboratory tests only for the detection of viral particles in maternal urine, with imaging studies demonstrating the progression of cranial and encephalic changes in the fetus and later in the newborn, such as head circumference reduction, cerebral calcifications and ventriculomegaly...
January 2018: Revista da Associação Médica Brasileira
Ivan Wen Wen Lau, Dongting Liu, Lei Xu, Zhanming Fan, Zhonghua Sun
OBJECTIVE: Current diagnostic assessment tools remain suboptimal in demonstrating complex morphology of congenital heart disease (CHD). This limitation has posed several challenges in preoperative planning, communication in medical practice, and medical education. This study aims to investigate the dimensional accuracy and the clinical value of 3D printed model of CHD in the above three areas. METHODS: Using cardiac computed tomography angiography (CCTA) data, a patient-specific 3D model of a 20-month-old boy with double outlet right ventricle was printed in Tango Plus material...
2018: PloS One
Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function. To circumvent neonatal lethality of the GorabNull full knockout, Gorab was conditionally inactivated in mesenchymal progenitor cells (Prx1-cre), pre-osteoblasts (Runx2-cre), and late osteoblasts/osteocytes (Dmp1-cre), respectively. While in all three lines a reduction in trabecular bone density was evident, only GorabPrx1 and GorabRunx2 mutants showed dramatically thinned, porous cortical bone and spontaneous fractures...
March 21, 2018: PLoS Genetics
Christoph Rudin, Hans H Hirsch, Rahel Spaelti, Sabine Schaedelin, Thomas Klimkait
BACKGROUND: Due to the lack of prospective data there is an ongoing debate about the need for screening and prevention programs for congenital toxoplasmosis in Europe. Accordingly, individual countries have chosen different public health strategies. METHODS: A cord-blood screening program for congenital toxoplasmosis was established in 1982 in obstetric units of hospitals in North-Western Switzerland. Samples were tested for specific IgG and IgM, and after 1992 also for IgA antibodies...
March 14, 2018: Pediatric Infectious Disease Journal
William Abouhassan, John Kuang Chao, Ananth S Murthy
BACKGROUND: Craniosynostosis is an uncommon complication after shunting procedures for congenital hydrocephalus. We report a case of a child with myelomeningocele and normocephaly at the time of birth. She underwent ventricular shunting for Chiari malformation and hydrocephalus at 3 days of age. An immediate postoperative CT scan confirmed all sutures were open. Serial CT scans document an open metopic suture at 2 months, closed metopic suture at 5 months, and trigonocephaly at 11 months with concomitant slit ventricle syndrome, and collapsed lateral and third ventricles...
March 20, 2018: Journal of Craniofacial Surgery
Amanda T Whitaker, James Kasser, Young-Jo Kim
RATIONALE: The sciatic nerve runs a predictable course combining L4-S3 nerve roots through the true pelvis and under the greater sciatic notch. There are reports of bony protuberances from the sacrum and ilium in cases of spinal dysraphism; however advanced imaging, treatment, or outcomes are not described. There are no cases with associated fibular hemimelia in the current literature. PATIENT CONCERNS: This is a 4-year-old girl with tethered cord, acetabular dysplasia with hip subluxation, congenital short femur, anterior cruciate ligament (ACL) deficiency, and fibular hemimelia with her sciatic nerve coursing through the ilium...
March 2018: Medicine (Baltimore)
Tian Meng, Hai-Lin Zhang, Xiao Long, Xiao-Jun Wang
RATIONALE: A significant clinical issue for treating patients with large upper lip defects is how to reconstruct the lip functionally and aesthetically. Traditional methods usually lead to asymmetry of the nasal base, philtrum and the lips. PATIENT CONCERNS: A 22-year-old lady presented with a large congenital nevus on her upper lip which involved the cutaneous, vermilion, and the philtrum. Secondary deformity caused by previous partial excisions was also identified...
March 2018: Medicine (Baltimore)
Gao-Wu Yan, Anup Bhetuwal, Guo-Qing Yang, Quan-Shui Fu, Na Hu, Lin-Wei Zhao, Hong Chen, Xiao-Ping Fan, Jing Yan, Hao Zeng, Qing Zhou
RATIONALE: Congenital absence of the right coronary artery (RCA) is a rare congenital malformation of the cardiovascular system which may have fatal consequences. PATIENT CONCERNS: A 63-year-old man with a 5-year history of chest pain after exertion which had aggravated for >1 month was advised for admission and computed tomography angiography (CTA) examination of the coronary artery to screen for coronary artery disease (CAD). DIAGNOSES: The coronary artery CTA showed absence of RCA arising form the aortic root after which a selective coronary angiography (SCA) examination was done that confirmed the diagnosis of congenital absence of RCA...
March 2018: Medicine (Baltimore)
Emma F Johnson, Dawn M Davis, Megha M Tollefson, Karen Fritchie, Lawrence E Gibson
Vascular tumors in infants present a diagnostic and treatment dilemma for both clinicians and pathologists. Infantile hemangioma, the most common vascular tumor in infants, can be confused for other less common vascular tumors in infants. Correct and timely diagnosis is important, as some vascular tumors can be associated with life-threatening coagulopathy. We present the cases of 5 vascular tumors that have clinical and histologic overlap: infantile hemangioma, pyogenic granuloma, noninvoluting congenital hemangioma, tufted angioma, and kaposiform hemangioendothelioma...
April 2018: American Journal of Dermatopathology
Augustin Lecler, Arnaud Attye, Catherine Edelson
In evaluating a 3-month-old boy with horizontal nystagmus, brain MRI revealed absence of the optic chiasm. The remainder of the brain was normal in appearance. Achiasma was confirmed with diffusion tensor imaging and best visualized with optimized probabilistic-based tractography.
March 20, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Martin Schweiger, Angela Lorts, Jennifer Conway
PURPOSE OF REVIEW: Increased miniaturization of ventricular assist devices (VADs) and new mechanical support strategies (MCS) has increased the use of MCS in the pediatric and congenital heart disease (CHD) population. This comes with the need for care providers specialized in this field to determine optimal patient and device selection, and to improve outcomes and decrease complication rates for new innovative strategies. A review of the published literature in this field is timely and relevant...
March 20, 2018: Current Opinion in Organ Transplantation
Melanie Laura Lawrence, James R Smith, Jamie Andrew Davies
The mesonephros of mammals is a transient renal structure that contributes to various aspects of mammalian fetal development including the male reproductive system, hematopoietic stem cells and vascular endothelial cells. The mesonephros develops from the intermediate mesoderm and forms tubules that are segmented in a similar way to the nephrons of the permanent kidney (but lacking loops of Henle). Early studies have suggested that the mesonephros in marsupials and some placental mammals may perform an excretory function, but these studies have not directly shown active transport of organic anions and cations...
March 21, 2018: American Journal of Physiology. Renal Physiology
E V Beliaeva, L V Lapshina, E V Shaposhnikova, A A Molgachev
Dandy-Walker malformation is a rare disease of the central nervous system pathology (congenital malformations of the fossa cranii posterior). The key features of this syndrome are an enlargement of the fourth ventricle; complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex responsible for coordination of the axial musculature; and cyst formation near the internal base of the skull. Pregnant patients with Dandy-Walker malformation are at high risk and are managed by multidisciplinary teams including neurologists and obstetricians...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Gino Vissers, Arno Talboom, Ben Gys, Damien Desbuquoit, Niels Komen, Guy Hubens
BACKGROUND: An internal abdominal hernia is defined as the protrusion of a viscus through a mesenteric or peritoneal aperture within the peritoneal cavity. A less common type of internal herniation is a small bowel herniation through a defect in the falciform ligament of the liver. This defect can be congenital or iatrogenic after penetration of the falciform ligament with a trocar during laparoscopic surgery. METHODS: We present a case report illustrating an internal herniation through an iatrogenic defect in the falciform ligament of the liver...
March 21, 2018: Acta Chirurgica Belgica
Alexandre Haumann, Sarah Ongaro, Olivier Detry, Paul Meunier, Michel Meurisse
INTRODUCTION: Small bowel obstruction (SBO) is a common presentation to emergency abdominal surgery. The most frequent causes of SBO are congenital, postoperative adhesions, abdominal wall hernia, internal hernia and malignancy. PATIENTS: A 27-year-old woman was hospitalized because of acute abdominal pain, blockage of gases and stools associated with vomiting. Abdominal computed tomography showed an acute small bowel obstruction without any obvious etiology. In view of important abdominal pain and the lack of clear diagnosis, an explorative laparoscopy was performed...
March 21, 2018: Acta Chirurgica Belgica
Lidia Capotosto, Francesco Massoni, Simone De Sio, Serafino Ricci, Antonio Vitarelli
Cardiovascular disease (CVD) still remains the main cause of morbidity and mortality and consequently early diagnosis is of paramount importance. Working conditions can be regarded as an additional risk factor for CVD. Since different aspects of the job may affect vascular health differently, it is important to consider occupation from multiple perspectives to better assess occupational impacts on health. Standard echocardiography has several targets in the cardiac population, as the assessment of myocardial performance, valvular and/or congenital heart disease, and hemodynamics...
2018: BioMed Research International
Yul-Hyun Park, Chul-Ho Kim, Jang-Hee Kim, Jun-Eun Park, Shin-Young Yim
While congenital muscular torticollis (CMT) can occur along with other conditions, such as clavicle fracture or brachial plexus injury, these conditions exist outside the sternocleidomastoid muscle (SCM). We present a rare case with concurrence of CMT and a malignant tumor inside the same SCM, along with serial clinical and radiological findings of the atypical features of CMT. The malignant tumor was in fact a low-grade fibromyxoid sarcoma. To the best of our knowledge, the current case is the first of a concurrent condition of CMT inside the SCM...
February 2018: Annals of Rehabilitation Medicine
Faisal Akhtar, Sabah Rehman
Congenital syphilis is one of the preventable diseases caused by the gram-negative bacteria Treponema pallidum; yet, it imposes a serious global health and economic burden, with more than half of the cases resulting in serious adverse outcomes, including infant mortality. Mother-to-child transmission (MTCT) of syphilis is estimated at 3.6 million adjusted life years (DALYs) and around $309 million in medical costs. In 2006, an estimated 9.7 million children of age less than five years died in developing countries; almost four million were neonatal deaths...
January 16, 2018: Curēus
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