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https://www.readbyqxmd.com/read/29330268/pelvic-and-buttock-hypoplasia-reconstructed-with-anatomical-breast-implants
#1
Felicity Page, Ayad Harb, Garth Titley
Radiation therapy is used in the management of a number of childhood cancers and can have significant effects on skeletal growth. We present the case of a 35-year-old woman who developed a hypoplastic pelvis and buttocks following radiotherapy for rhabdomyosarcoma of the vagina at the age of 2. At the age of 25, the patient underwent bilateral buttock augmentation with a two-stage reconstruction using tissue expansion followed by definitive augmentation with anatomical breast implant insertion. The patient continues to have a satisfactory outcome 10 years following reconstruction, having undergone a single uplift procedure and exchange of implants through the original incision 9 years postoperatively...
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29328523/improved-portal-vein-venoplasty-with-autogenous-patch-in-pediatric-living-donor-liver-transplantation
#2
Mingxuan Feng, Ping Wan, Bijun Qiu, Tao Zhou, Yi Luo, Lihong Gu, Jiachang Chi, Chengpeng Zhong, Yefeng Lu, Jianjun Zhang, Qiang Xia
BACKGROUND: An atretic or hypoplastic portal vein (PV) represents a challenge for PV reconstruction in pediatric living donor liver transplantation (LDLT). Several PV venoplastic techniques have been developed. However, we still seek improved venoplastic techniques with better efficacy and compatibility. METHOD: From June 2016 to July 2017, 271 LDLT procedures were performed at the Department of Liver Surgery, Ren Ji Hospital. A total of 16 consecutive children with atretic and sclerotic PVs underwent a novel technique - the autogenous PV patch plastic technique...
January 12, 2018: Liver Transplantation
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#3
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29322965/endovascular-strategies-for-management-of-intradural-vertebral-artery-dissecting-aneurysms
#4
Swati D Chinchure, Vijay Jaykrishnan, B P Krishna Prasad
OBJECTIVE: Endovascular treatment of vertebral intradural dissecting aneurysms is complex and requires different strategies for each case. The current study aims to classify these aneurysms for an easy selection of optimal strategies for endovascular therapy. MATERIALS AND METHODS: This study is a retrospective evaluation of 10 patients harbouring a vertebral intradural dissecting aneurysm (including 6 female and 4 male patients). The clinical, procedural, and angiographic data were evaluated...
January 2018: Neurology India
https://www.readbyqxmd.com/read/29322554/transcription-factor-foxc1-is-involved-in-anterior-part-of-cranial-base-formation
#5
Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
The cranial base is a structure mainly formed through endochondral ossification, and integrated into the craniofacial complex acting as an underlying platform for developing brain. Foxc1 is an indispensable regulator during intramembranous and endochondral ossification. In this study, we found that the spontaneous loss of Foxc1 function mouse (congenital hydrocephalous), Foxc1ch/ch , showed the anterior cranial base defects including unossified presphenoid and lack of middle part of the basisphenoid bone. Consistently, hypoplastic presphenoid primordial cartilage (basal portion of the trabecular cartilage) and lack of the middle part of basisphenoid primordial cartilage (the hypophyseal cartilage) were observed at earlier developmental stage...
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322497/genetics-of-patella-hypoplasia-agenesis
#6
REVIEW
C Vanlerberghe, N Boutry, F Petit
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patello-femoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-Patella syndrome, Small Patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management...
January 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29317564/pdx1-gene-mutation-with-permanent-neonatal-diabetes-mellitus-with-annular-pancreas-duodenal-atresia-hypoplastic-gall-bladder-and-exocrine-pancreatic-insufficiency
#7
Abhishek Kulkarni, Varun K Sharma, Fazal Nabi
BACKGROUND: Neonatal diabetes mellitus is a rare condition. CASE CHARACTERISTICS: A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia. OBSERVATION: Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same. MESSAGE: This case highlights the importance of establishing the genetic diagnosis in all cases of neonatal diabetes mellitus...
December 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29317056/a-potentially-curative-fetal-intervention-for-hypoplastic-left-heart-syndrome
#8
Andrew T Hattam
Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29313380/an-on-top-plasty-reconstruction-for-complicated-radial-polydactyly
#9
Brian P Kelley, Carrie Kubiak, Kevin C Chung
BACKGROUND: The clinical presentation of radial polydactyly can vary greatly. Careful planning and appreciation of the anatomic subtleties provides alternative surgical options to improve patient outcomes. METHODS: We present a case of a well-formed accessory web space thumb and a hypoplastic primary thumb. RESULTS: Rather than excising the accessory digit, we performed a spare-part, on-top-plasty reconstruction to replace the diminutive distal phalanx of the primary thumb...
January 1, 2018: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29310335/two-stage-hybrid-treatment-strategy-for-an-adult-patient-with-aortic-arch-coarctation-poststenotic-aneurysm-and-hypoplastic-left-subclavian-artery-a-case-report
#10
Xiao-Bo Pu, Shi-Jian Chen, Mao Chen, Yuan Feng
RATIONALE: Coarctation of aorta in adulthood is usually complicated by other cardiovascular anomalies, posing great technical challenge for intervention. PATIENT CONCERNS: Here, we report an extremely rare case of aortic arch coarctation combined with a poststenotic biloculated calcified aneurysm and hypoplastic left subclavian artery. INTERVENTIONS: First, an extra-anatomic bypass was established, along with narrowing of aorta just proximal and distal to the aneurysm...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29305367/embolic-stroke-in-a-postpartum-patient-with-fontan-physiology
#11
Katherine VanHise, Linda Li, Emily Smith, Niamh Condon
In cardiac physiology, single ventricle typically refers to the presence of a dominant systemic ventricle along with a hypoplastic ventricle. The Fontan operation is used to repair the single ventricle by directing deoxygenated systemic venous flow to the pulmonary arterial circulation. Normal pregnancy physiology, particularly increased intravascular volume, increased heart rate, increased cardiac output, hypercoagulability and decreased systemic vascular resistance, can exacerbate cardiac disease in patients with Fontan circulation, leading to pregnancy complications...
January 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29299618/heart-transplantation-in-children-with-turner-syndrome-analysis-of-a-linked-dataset
#12
Joshua D Chew, Jonathan H Soslow, Cary Thurm, Matt Hall, Debra A Dodd, Brian Feingold, Jill Simmons, Justin Godown
Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not allow for identification of TS. This study describes experiences and outcomes of HTx in TS using a unique linkage between the Scientific Registry of Transplant Recipients and the Pediatric Health Information System databases...
January 3, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29290485/tricuspid-valve-adaptation-during-the-first-interstage-period-in-hypoplastic-left-heart-syndrome
#13
Timothy Colen, Shelby Kutty, Richard B Thompson, Edythe Tham, Andrew S Mackie, Ling Li, Dongngan T Truong, Michiko Maruyama, Jeffrey F Smallhorn, Nee Scze Khoo
BACKGROUND: Tricuspid regurgitation (TR) is an important risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS), yet the evolution of tricuspid valve (TV) dysfunction in HLHS is poorly understood. This study sought to examine changes in TV function in HLHS between the first two stages of surgical palliation and to determine the mechanism of TR at the time of stage two surgery-bidirectional cavopulmonary anastomosis (BCPA). METHODS: We prospectively investigated 44 infants at two time points-prior to Norwood-Sano (T1 - median age 5...
December 29, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#14
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29288192/symptomatic-partial-and-transitional-atrioventricular-septal-defect-repaired-in-infancy
#15
Sylvia Krupickova, Gareth J Morgan, Mun Hong Cheang, Michael L Rigby, Rodney C Franklin, Andrea Battista, Ariana Spanaki, Beatrice Bonello, Olivier Ghez, David Anderson, Victor Tsang, Guido Michielon, Jan Marek, Alain Fraisse
OBJECTIVES: Infants with symptomatic partial and transitional atrioventricular septal defect undergoing early surgical repair are thought to be at greater risk. However, the outcome and risk profile of this cohort of patients are poorly defined. The aim of this study was to investigate the outcome of symptomatic infants undergoing early repair and to identify risk factors which may predict mortality and reoperation. METHODS: This multicentre study recruited 51 patients (24 female) in three tertiary centres between 2000 and 2015...
December 28, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29288017/improved-lung-perfusion-after-left-pulmonary-artery-patch-enlargement-during-the-norwood-operation
#16
Mona Salehi Ravesh, Jens Scheewe, Tim Attmann, Abdullah Al Bulushi, Marka-Jill Jussli-Melchers, Michael Jerosch-Herold, Dominik D Gabbert, Philip Wegner, Hans-Heiner Kramer, Carsten Rickers
BACKGROUND: Optimal pulmonary perfusion is crucial for a well-functioning Fontan circulation in patients with hypoplastic left heart syndrome (HLHS). To obtain an adequate size of the left pulmonary artery (LPA), patch enlargement is a routine part of Hemi-Fontan procedure in our center. However, LPA patch enlargement at the time of the modified Norwood procedure may have surgical advantages. Therefore, the aim of this study was to evaluate if anatomical and functional effects of the new approach are superior...
December 26, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29287139/fetal-interventions-for-structural-heart-disease
#17
David N Schidlow, Lindsay Freud, Kevin Friedman, Wayne Tworetzky
Fetal cardiac intervention (FCI) offers the potential to alter in utero anatomy and physiology. For aortic stenosis with evolving hypoplastic left heart syndrome and pulmonary atresia with intact ventricular septum with evolving hypoplastic right heart syndrome, FCI may result in maintenance of a biventricular circulation, thus avoiding single-ventricle palliation and its attendant complications. In the case of hypoplastic left heart syndrome with intact atrial septum, FCI may ameliorate in utero pathophysiology and portend a more favorable postnatal prognosis...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287137/maternal-hyperoxygenation-a-potential-therapy-for-congenital-heart-disease-in-the-fetuses-a-systematic-review-of-the-current-literature
#18
Jennifer Co-Vu, Dalia Lopez-Colon, Himesh V Vyas, Natalie Weiner, Curt DeGroff
OBJECTIVES: To assess efficacy, safety, outcomes, and intrauterine complications following maternal hyperoxygenation (MH) therapy in fetuses with congenital heart disease (CHD). METHODS: A systematic review was performed following an electronic search of databases. Articles were published before January 1, 2017, in an English-language and non-English-language journals (with English translations), and included human fetuses and expectant mothers with a fetal diagnosis of CHD who received MH...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287136/cerebrovascular-hemodynamics-in-fetuses-with-congenital-heart-disease
#19
Tingting Man, Yihua He, Ying Zhao, Lin Sun, Xiaowei Liu, Shuping Ge
BACKGROUND AND OBJECTIVE: It is hypothesized that diminished cerebral vascular resistance or the "brain sparing effect" is associated with fetuses with complex congenital heart defects (CHD) and may affect their neurodevelopmental outcome. An alternative explanation is that it is related to the location, cardiac output, pressure, and resistance in left heart obstructive CHDs. We sought to determine the effects of various left and right heart obstructive defects on the cerebral and placental hemodynamics and to evaluate the utility of these variables for the assessment and prognosis of CHDs...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287135/pulmonary-hypoplasia-in-fetuses-with-congenital-conotruncal-defects
#20
Qian Wang, Ying Zhao, Ling Han, Ye Zhang, Shuping Ge, Yihua He
OBJECTIVES: We sought to investigate pulmonary hypoplasia (PH) and associated risk factors in fetuses with congenital conotruncal defect (CTD). METHODS: A total of 75 fetuses with CTD (gestational age (GA): 22-32 weeks) and 150 normal GA-matched fetuses as the control group were studied. We measured diameters of aorta (Ao); main, left, and right pulmonary artery (PA); and their Z-scores by fetal echocardiography (FE). We also measured the lung area, lung area/chest area ratio (LCR), lung-to-head circumference ratio (LHR), right lung area/head circumference2 (quantitative lung index, QLI), and Z-scores...
December 2017: Echocardiography
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