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https://www.readbyqxmd.com/read/28434210/changes-in-perinatal-hospital-deaths-occurring-outside-the-neonatal-intensive-care-unit-over-a-decade
#1
Amélie Du Pont-Thibodeau, Keith Barrington, Catherine Taillefer, Annie Janvier
AIM: Perinatal deaths occurring outside the neonatal intensive care unit (NICU) are rarely recorded in outcome studies, despite having a direct impact on perinatal statistics. Our aim was to investigate the timing and modes of perinatal deaths that occurred outside the NICU and changes over time. METHOD: We reviewed all perinatal deaths from 22 weeks of gestation onwards, without NICU admissions, during two periods in a Canadian tertiary mother and baby hospital and categorised deaths according to nine specific categories...
April 23, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28433207/correlation-of-frontal-sinus-recess-anatomy-with-ethnicity-gender-and-pathology
#2
Laura K House, Scott P Stringer, Samantha Seals
PURPOSE: Research on frontal sinus cells has been conflicting regarding relationship between frontal sinus cells and frontal sinus disease. There are no published studies regarding gender differences in frontal sinus disease. No comparisons between African Americans and Caucasians and frontal sinus disease have been published. This study attempts to define the above relationships as well as the relationship between number and types of cells and disease. METHODS: A retrospective chart review was performed on sinus CT scans done from 2003 to 2011 at an academic medical center...
April 12, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28429036/a-review-of-zika-virus-infections-in-pregnancy-and-implications-for-antenatal-care-in-singapore
#3
Harvard Zhenjia Lin, Paul Anantharajah Tambyah, Eu Leong Yong, Arijit Biswas, Shiao-Yng Chan
Given the consensus that there is a causal relationship between Zika virus (ZIKV) infection in pregnancy and congenital Zika syndrome (CZS), clinicians must be prepared to manage affected patients despite the numerous gaps in current knowledge. The clinical course in pregnancy appears similar to that in non-pregnant women, although viraemia may be prolonged. ZIKV infection can be diagnosed by serum and urine reverse transcription-polymerase chain reaction, but commercially available serological tests are currently unreliable in dengue-endemic regions...
April 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28428837/large-is-required-for-normal-astrocyte-migration-and-retinal-vasculature-development
#4
Min Zhou, Herui Wang, Hui Ren, Rui Jiang, Chi Zhang, Xiaohui Wu, Gezhi Xu
BACKGROUND: Persistent fetal vasculature (PFV) is a congenital developmental anomaly of the eye that accounts for about 5% of childhood blindness. The molecular mechanism of PFV remains unclear. As a glycosyltransferase of α-dystroglycan, LARGE mutations have been found in congenital muscular dystrophy patients with brain abnormalities. Spontaneous Large mutant mice displayed similar symptoms of human muscle-eye-brain disorders. However, the detailed roles of Large in ocular vasculature development still need to be uncovered...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28426721/diagnosis-treatment-and-prognosis-of-small-bowel-volvulus-in-adults-a-monocentric-summary-of-a-rare-small-intestinal-obstruction
#5
Xiaohang Li, Jialin Zhang, Baifeng Li, Dehui Yi, Chengshuo Zhang, Ning Sun, Wu Lv, Ao Jiao
OBJECTIVES: Small bowel volvulus is a rare disease, which is also challenging to diagnose. The aims of this study were to characterize the clinical and radiological features associated with small bowel volvulus and treatment and to identify risk factors for associated small bowel necrosis. METHODS: Patients with small bowel volvulus who underwent operations from January 2001 to December 2015 at the First Affiliated Hospital of China Medical University (Shenyang, China) were reviewed...
2017: PloS One
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#6
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28424012/internal-carotid-artery-agenesis-a-case-report-and-review-of-literature
#7
Shuo Li, Kusum Hooda, Nishant Gupta, Yogesh Kumar
Congenital agenesis of the internal carotid artery is a very rare anomaly. Intracranial circulation in the involved internal carotid artery territory is maintained by collateral circulation from the contralateral internal carotid artery through the anterior communicating artery and from the vertebrobasilar system through the posterior communicating artery. Usually, patients with internal carotid artery agenesis are asymptomatic due to collateral circulation, but they may present with headache, seizures, or transient ischemic attack...
April 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#8
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422942/development-of-tandem-mass-spectrometry-based-creatinine-measurement-using-dried-blood-spot-for-newborn-mass-screening
#9
Masaru Nakano, Osamu Uemura, Masataka Honda, Tetsuya Ito, Yoko Nakajima, Shinji Saitoh
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent etiology of pediatric chronic kidney disease (CKD). However, no robust mass screening methods have been developed to detect patients with CAKUT, making early intervention to prevent progressive renal failure challenging. METHODS: We applied tandem mass spectrometry (MS/MS) to measure the creatinine (Cr) value from dried blood spot (DBS) analysis, which has been used for newborn mass screening...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#10
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#11
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#12
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#13
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#14
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28421109/bleeding-meckel-s-diverticulum-in-children-the-diagnostic-value-of-double-balloon-enteroscopy
#15
Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong
Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28419427/how-i-manage-children-with-neutropenia
#16
REVIEW
David C Dale
Neutropenia, usually defined as a blood neutrophil count <1·5 × 10(9) /l, is a common medical problem for children and adults. There are many causes for neutropenia, and at each stage in life the clinical pattern of causes and consequences differs significantly. I recommend utilizing the age of the child and clinical observations for the preliminary diagnosis and primary management. In premature infants, neutropenia is quite common and contributes to the risk of sepsis with necrotizing enterocolitis...
April 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28419404/use-of-evicel-fibrin-sealant-in-optic-disc-pit-associated-macular-detachment
#17
Paulo Ricardo Chaves de Oliveira, Alan Richard Berger, David Robert Chow
Optic disc pit is a rare congenital anomaly of the optic nerve. Retinal detachment is a common complication with poor outcomes. Many surgical alternatives have been described for the treatment of this condition, producing variable results. Herein, the authors describe four cases of optic disc pit-associated macular detachment managed with pars plana vitrectomy, fluid-air exchange, drainage of subretinal fluid through the optic disc pit, temporal peripapillary laser, and application of Evicel fibrin sealant (human) (Ethicon, Bridgewater, NJ) over the optic disc head...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#18
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#19
Yoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, Marilyn C Jones, Elise Housman, Dawn Engelkemier, Lorene E Romine, Paritosh C Khanna, Dolores H Pretorius
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28416937/expansion-of-the-rib-head-a-novel-computed-tomographic-feature-of-supernumerary-intrathoracic-ribs
#20
Ismail Mikdat Kabakus, Zeynep Atceken, Orhan Macit Ariyurek
Intrathoracic ribs are very rare congenital anomalies. Approximately 50 cases have been reported in the literature till date. They are usually present on the right side, between the third and eighth ribs without sex predominance. They may originate from a vertebral body or the proximal or distal part of a rib. In most cases, they are asymptomatic, but they may be associated with developmental abnormalities of ribs and vertebrae. The diagnosis is important to prevent further investigation or intervention. Here we present two rare cases with supernumerary intrathoracic rib and describe a novel sign, namely expansion of the rib head...
February 2017: Eurasian Journal of Medicine
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