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kyphoscoliosis pregnancy

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https://www.readbyqxmd.com/read/27309155/tetrasomy-18p-in-a-twin-pregnancy-with-diverse-expression-in-both-fetuses
#1
Cihan Inan, N Cenk Sayın, Emine Atlı, Selma Ulusal, Selen Erzincan, Isil Uzun, Hakan Gurkan, Füsun G Varol
Tetrasomy 18p, characterized by the presence of four copies of the short arm of chromosome 18, is considered to occur with the nondisjunction in meiosis II after the errors in the meiotic and early postmeiotic mitotic division in the centromere. It is accompanied by various abnormalities including congenital heart defects, lower extremity abnormalities, micrognathia, high arched palate, kyphoscoliosis, microcephaly, myelomeningocele, hernia and renal anomalies. We present the first case of a dichorionic diamniotic twin pregnancy in which both fetuses were affected by tetrasomy 18p, but with discordant morphology, detected in one twin in the first but in the other in the second trimester...
June 16, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/26928926/ultrasound-features-and-management-of-body-stalk-anomaly
#2
Anca Maria Panaitescu, Fred Ushakov, Anjali Kalaskar, Pranav P Pandya
OBJECTIVES: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. METHODS: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity...
March 1, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/26702219/anesthetic-management-of-parturient-with-thoracic-kyphoscoliosis-malaria-and-acute-respiratory-distress-syndrome-for-urgent-cesarean-section
#3
Ravindra Kr Pandey, Meenu M Batra, Vanlal Darlong, Rakesh Garg, Jyotsna Punj, Sri Kumar
The management of cesarean section in kyphoscoliotic patient is challenging. The respiratory changes and increased metabolic demands due to pregnancy may compromise the limited respiratory reserves in such patients. Presence of other comorbidities like malaria and respiratory tract infection will further compromise the effective oxygenation. We report a case of kyphoscoliosis along with malaria and acute respiratory distress syndrome for urgent cesarean section.
October 2015: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/26240726/post-pregnancy-severe-spinal-osteoporosis-with-multiple-vertebral-fractures-and-kyphoscoliosis-in-a-multigravida-a-rare-case-with-management
#4
Shailesh Hadgaonkar, Kunal Chandrakant Shah, Hrutvij Bhatt, Ashok Shyam, Parag Sancheti
Osteoporosis associated with pregnancy and lactation is a less commonly known condition and often overlooked. The prevalence, exact aetiology and its pathogenesis are unknown. It is commonly seen in first three months after delivery in primigravida. It is often undiagnosed because of it not suspected n and X-rays and densitometry are avoided if possible during pregnancy and lactation. If missed, it can lead to osteoporotic fractures and disability. In this paper, we report a case of a 24-year-old multigravida 4 months after pregnancy with multiple vertebral compression fractures and kyphoscoliosis...
August 2015: Asian Spine Journal
https://www.readbyqxmd.com/read/25266621/a-case-of-ehlers-danlos-syndrome-type-via-with-a-novel-plod1-gene-mutation
#5
Ayşe Tosun, Serkan Kurtgoz, Siar Dursun, Gokay Bozkurt
BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis...
October 2014: Pediatric Neurology
https://www.readbyqxmd.com/read/25012886/use-of-i-gel-for-caesarean-section-with-kyphoscoliosis
#6
Suman Lata Gupta, M V S Satya Prakash, Gunasekaran Prabu
We describe the anaesthetic management using i-gel for airway maintenance in a patient with kyphoscoliosis presenting for emergency caesarean section due to fetal distress and scar tenderness. The patient had a history of previous caesarean section under general anaesthesia, and presently her cardiorespiratory status is stable. We used i-gel, the new supraglottic airway device, for maintaining the airway under intravenous anaesthesia using propofol.
2014: BMJ Case Reports
https://www.readbyqxmd.com/read/24904047/musculoskeletal-symptoms-and-orthopaedic-complications-in-pregnancy-pathophysiology-diagnostic-approaches-and-modern-management
#7
REVIEW
Amit Bhardwaj, Kavitha Nagandla
Low back pain is a common musculoskeletal symptom in pregnancy that can present as lumbar pain or pelvic girdle pain, with significant physical and psychosocial implications. Pelvic girdle pain is more prevalent and results in greater disability than lumbar pain. It is possible to distinguish between these two conditions from a detailed history based on the site of the pain, its intensity, disability and pain provocation tests. Management of low back pain in pregnancy is conservative, with physical exercise for lumbar pain and minimising activities that exacerbate pain, analgesics and bed rest for pelvic girdle pain, as well as avoiding abduction beyond the pain-free zone in labour...
August 2014: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/24768304/achondroplasia-anaesthetic-challenges-for-caesarean-section
#8
L Dubiel, G A Scott, R Agaram, E McGrady, A Duncan, K N Litchfield
Pregnancy in women with achondroplasia presents major challenges for anaesthetists and obstetricians. We report the case of a woman with achondroplasia who underwent general anaesthesia for an elective caesarean section. She was 99cm in height and her condition was further complicated by severe kyphoscoliosis and previous back surgery. She was reviewed in the first trimester at the anaesthetic high-risk clinic. A multidisciplinary team was convened to plan her peripartum care. Because of increasing dyspnoea caesarean section was performed at 32weeks of gestation...
August 2014: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/24551664/maternal-and-perinatal-outcome-in-teenage-vs-vicenarian-primigravidae-a-clinical-study
#9
Indranil Dutta, Prashant Joshi
OBJECTIVES: The aim of this study was to evaluate the maternal and foetal outcomes and complications in teenage primigravida as compared to those in primigravidae who were aged 20-29 years. METHODS: Eighty teenage and one hundred sixty adult primigravidae were taken up for the study. Study duration was 24 months, from November 2010 to October 2012, at Rural Medical Research Centre in southern India. During this period, all cases were included in the study, irrespective of their booking statuses...
December 2013: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/24493511/restrictive-lung-disease-in-pregnancy
#10
Stephen E Lapinsky, Carolyn Tram, Sangeeta Mehta, Cynthia V Maxwell
Restrictive lung disease is uncommon in pregnancy. We reviewed 15 pregnancies in 12 women with restrictive disease due to kyphoscoliosis, neuromuscular disease, or parenchymal lung disease. Median FVC was 40% predicted, and six women (50%) had an FVC < 1.0 L. In the 14 pregnancies in which at least two spirometry readings were available, FVC increased in three pregnancies, decreased in three, and remained stable in eight, with maximal changes of 0.4 L. Three women required supplemental oxygen, and one woman with neuromuscular disease required noninvasive ventilation...
February 2014: Chest
https://www.readbyqxmd.com/read/24354248/-lung-and-pregnancy
#11
C Daccord, J-W Fitting
During pregnancy several adaptations develop in response to the enhanced maternal and fetal metabolic needs. This review summarizes the major cardiorespiratory modifications of pregnancy as well as their consequences in chronic respiratory diseases such as restrictive ventilatory defects (post-tuberculosis pneumonectomy, kyphoscoliosis, neuromuscular disorders), asthma, cystic fibrosis, and pulmonary hypertension. It is important to recognize early the cardiorespiratory situations for which pregnancy is contraindicated or associated with a high risk of respiratory complications...
November 20, 2013: Revue Médicale Suisse
https://www.readbyqxmd.com/read/23699563/restrictive-lung-disease-in-pregnancy
#12
Carolyn Tram, Stephen Lapinsky, Cynthia Maxwell
SESSION TYPE: ICU Safety and Quality PostersPRESENTED ON: Wednesday, October 24, 2012 at 01:30 PM - 02:30 PMPURPOSE: Restrictive lung disease is relatively uncommon in pregnancy, and limited data are available to direct peri-partum and post-partum management of patients with severe disease. This study reviewed the course of pregnant patients with severe restrictive lung diseases, in our tertiary care referral centre over the past 10 years.METHODS: Patients with Forced Vital Capacity (FVC] < 70% predicted were identified from office charts...
October 1, 2012: Chest
https://www.readbyqxmd.com/read/23519725/anesthetic-management-of-a-parturient-with-vacterl-association-undergoing-cesarean-delivery
#13
Gillian Hilton, Frederick Mihm, Alexander Butwick
PURPOSE: We present the anesthetic management of a parturient with VACTERL association undergoing combined regional and general anesthesia for Cesarean delivery. Defined as a syndrome, VACTERL association comprises at least three of the following abnormalities: vertebral, anal atresia, cardiac, tracheoesophageal, renal, and limb. CLINICAL FEATURES: The patient's anatomic abnormalities and comorbidities comprised severe cervicothoracic scoliosis, kyphoscoliosis, congenitally fused ribs, and severe restrictive lung disease...
June 2013: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/22940851/prenatal-diagnosis-of-split-cord-malformation-by-ultrasound-and-fetal-magnetic-resonance-imaging-case-report-and-review-of-the-literature
#14
Mehmet Serdar Kutuk, Mahmut Tuncay Ozgun, Mustafa Tas, Hatice Gamze Poyrazoglu, Ali Yikilmaz
INTRODUCTION: Split cord malformation (SCM) is rare congenital disorder of spine in which bony, fibrous, or cartilaginous septum subdivides partially or completely the vertebral canal. SCM can be associated with other spinal abnormalities such as spina bifida, Arnold-Chiari malformation, hemivertebra, butterfly vertebra, or kyphoscoliosis and also can be seen as part of Jarcho-Levin syndrome. Prenatal diagnosis of SCM is possible by ultrasonography (US). Fetal magnetic resonance imaging (MRI) and amniotic fluid acetylcholine esterase (AF-AChE) levels can be helpful to rule out additional anomalies...
December 2012: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/22482962/prenatal-diagnosis-and-genetic-analysis-of-fetal-akinesia-deformation-sequence-and-multiple-pterygium-syndrome-associated-with-neuromuscular-junction-disorders-a-review
#15
REVIEW
Chih-Ping Chen
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities...
March 2012: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/22330346/a-new-lysosomal-storage-disorder-resembling-morquio-syndrome-in-sibs
#16
Laurence Perrin, Odile Fenneteau, Brice Ilharreborde, Yline Capri, Marion Gérard, Emmanuel Bui Quoc, Sandrine Passemard, Jamal Ghoumid, Catherine Caillaud, Roseline Froissart, Anne-Claude Tabet, Sophie Lebon, Vincent El Ghouzzi, Keyvan Mazda, Alain Verloes
We report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children have short stature (below - 4SD) with short trunk, barrel chest, micromelia with rhizomelic shortening, severe kyphoscoliosis, pectus carinatum, short hands and feet with metatarsus adductus, and excessive joint laxity of the small joints. Learning difficulties with borderline intelligence quotient (IQ) were noted in one of them...
March 2012: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/22124010/first-trimester-diagnosis-of-body-stalk-anomaly-using-2-and-3-dimensional-sonography
#17
Aisling Murphy, Lawrence D Platt
To determine the sonographic features of body stalk anomaly in the first trimester using 2-dimensional (2D) and 3-dimensional (3D) sonography, we conducted a retrospective analysis of all nuchal translucency sonographic examinations performed between January 1, 2006, and January 1, 2010, at our institution. From a total of 6952 nuchal translucency sonographic examinations, 4 cases of body stalk anomaly were identified. All cases were characterized by an absent umbilical cord and a large ventral wall defect with herniation of the abdominal contents into the extraembryonic coelom...
December 2011: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/21846187/myelomeningocele-and-pregnancy-a-case-report-and-review-of-the-literature
#18
REVIEW
Immacolata Blasi, Adriano Ferrari, Giuseppina Comitini, Valeria Vinci, Martino Abrate, Giovanni Battista La Sala
The improvement of antenatal management and surgical techniques has greatly increased the survival rate of infants with spina bifida. More of these women are reaching adulthood and reproductive age and therefore could become pregnant. Pregnancy complications depend on the kind of spina bifida and subject's condition.We report a case of woman with a severe kyphoscoliosis, that progressively affects lung capacity until 32 weeks of gestation, when she underwent caesarean section.These patients deserve careful obstetric care, genetic counselling and urological, obstetric, neurological and anaesthetic management...
July 2012: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/21818555/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcifications-type-progressive-radiological-findings-from-fetal-age-to-adolescence
#19
Katya Rozovsky, Jacob Sosna, Martine Le Merrer, Natalia Simanovsky, Benjamin Z Koplewitz, Jacob Bar-Ziv, Valerie Cormier-Daire, Annick Raas-Rothschild
BACKGROUND: Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. OBJECTIVE: We aimed to describe the progression of symptoms from fetal age to adolescence in SMED, SL-AC patients. MATERIALS AND METHODS: We retrospectively evaluated radiological findings on plain films, CT and MRI for eight children with genetically proven SEMD (male:female ratio 4:4, ages 30-week fetus to 18 years) and summarized findings from case reports and case series in the literature...
October 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/21611149/a-novel-splice-variant-in-the-n-propeptide-of-col5a1-causes-an-eds-phenotype-with-severe-kyphoscoliosis-and-eye-involvement
#20
Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2). Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein. Remarkably, only two mutations were reported to affect the extended, highly conserved N-propeptide domain, which plays an important role in the regulation of the heterotypic collagen fibril diameter...
2011: PloS One
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