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https://www.readbyqxmd.com/read/28094436/cartilage-hair-hypoplasia-with-normal-height-in-childhood-four-patients-with-a-unique-genotype
#1
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28093805/heartware-ventricular-assist-device-implantation-in-patients-with-fontan-physiology
#2
Bartlomiej R Imielski, Robert A Niebler, Steven J Kindel, Ronald K Woods
We aim to describe the clinical course of a series of patients with hypoplastic left heart syndrome and refractory systolic heart failure supported with a HeartWare ventricular assist device (HVAD) following Fontan palliation. This is a retrospective review of three consecutive patients supported with a HVAD following Fontan palliation through February 2016. Data include patient characteristics, operative variables, postimplantation hemodynamic/device parameters, event outcomes, and duration of HVAD support...
January 2017: Artificial Organs
https://www.readbyqxmd.com/read/28087397/elbow-locking-in-a-patient-with-a-congenital-radial-head-dislocation-case-report
#3
Hee-June Kim, Poong-Taek Kim, Hyun-Joo Lee, Maria Florencia Deslivia
Snapping elbow is a rare condition which has various possible causes such as impinged plica, annular ligament, or other extra-articular causes. We report a case of 15-year-old boy who had had snapping elbow and sudden onset flexion contracture of the elbow. Simple radiographs showed bilateral anterior dislocation of hypoplastic radial heads. Magnetic resonance images with the elbow extended as much as possible showed that the annular ligament hemmed the dislocated radial neck. By surgical incision of the annular ligament which checkreined the radial neck, the patients could regain full extension of the elbow...
January 10, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28072476/aberrant-right-subclavian-artery-correlation-between-fetal-and-neonatal-abnormalities-and-abnormal-genetic-screening-or-testing
#4
Angela C Ranzini, Francine Hyman, Emily Jamaer, Tim van Mieghem
OBJECTIVES: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion. METHODS: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. RESULTS: Seventy-nine fetuses with ARSA were identified at 20...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#5
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#6
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28045828/bilateral-malar-reconstruction-using-patient-specific-polyether-ether-ketone-implants-in-treacher-collins-syndrome-patients-with-absent-zygomas
#7
David C G Sainsbury, Alan George, Christopher R Forrest, John H Phillips
The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively...
December 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28043677/pressure-volume-loop-derived-cardiac-indices-during-dobutamine-stress-a-step-towards-understanding-limitations-in-cardiac-output-in-children-with-hypoplastic-left-heart-syndrome
#8
James Wong, Kuberan Pushparajah, Adelaide de Vecchi, Bram Ruijsink, Gerald F Greil, Tarique Hussain, Reza Razavi
BACKGROUND: Children with a single systemic right ventricle, such as in hypoplastic left heart syndrome (HLHS), frequently experience reduced exercise capacity. Elucidating the causes could help with optimising treatment strategies. METHODS: Prospective data from 10 consecutive symptomatic patients with HLHS undergoing clinical cardiac magnetic resonance with catheterisation (XMR) were analysed. Mean age 8.6years (range 3.5-11.6years), mean time since Fontan completion 5...
December 22, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28043454/surgical-techniques-for-repair-of-peripheral-pulmonary-artery-stenosis
#9
Richard D Mainwaring, Frank L Hanley
Peripheral pulmonary artery stenosis (PPAS) is a rare form of congenital heart disease that is most frequently associated with Williams and Alagille syndromes. These patients typically have systemic level right ventricular pressures secondary to obstruction at the lobar, segmental, and subsegmental branches. The current management of patients with PPAS remains somewhat controversial. We have pioneered an entirely surgical approach for the reconstruction of PPAS. This approach initially entailed a surgical patch augmentation of all major lobar branches and effectively reduced the right ventricular pressures by more than half...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28040266/angiotensin-ii-at1-receptor-signaling-is-necessary-for-cyclooxygenase-2-dependent-postnatal-nephron-generation
#10
Stefanie Frölich, Patrick Slattery, Dominique Thomas, Itamar Goren, Nerea Ferreiros, Boye L Jensen, Rolf M Nüsing
Deletion of cyclooxygenase-2 (COX-2) causes impairment of postnatal kidney development. Here we tested whether the renin angiotensin system contributes to COX-2-dependent nephrogenesis in mice after birth and whether a rescue of impaired renal development and function in COX-2(-/-) mice was achievable. Plasma renin concentration in mouse pups showed a birth peak and a second peak around day P8 during the first 10 days post birth. Administration of the angiotensin II receptor AT1 antagonist telmisartan from day P1 to P3 did not result in cortical damage...
December 28, 2016: Kidney International
https://www.readbyqxmd.com/read/28035313/rare-case-of-tibial-hemimelia-preaxial-polydactyly-and-club-foot
#11
Guinevere Granite, John E Herzenberg, Ronald Wade
A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-rays, and computed tomography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, and no middle or distal phalanges for fifth toe...
December 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28033074/preoperative-feeding-neonates-with-cardiac-disease
#12
Carly J Scahill, Eric M Graham, Andrew M Atz, Scott M Bradley, Minoo N Kavarana, Sinai C Zyblewski
BACKGROUND: The potential for necrotizing enterocolitis (NEC) in neonates requiring cardiac surgery has contributed largely to wide feeding practice variations and a hesitation to initiate enteral feeding during the preoperative period, specifically those patients with hypoplastic left heart syndrome. METHODS: A retrospective chart review of neonates undergoing cardiac surgery at a single institution between July 2011 and July 2013 was performed. The primary objective of this study was to determine if preoperative feeding was associated with NEC in neonates requiring cardiac surgery...
January 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28029339/long-term-outcomes-of-single-ventricle-palliation-for-unbalanced-atrioventricular-septal-defects-fontan-survivors-do-better-than-previously-thought
#13
Edward Buratto, Xin Tao Ye, Gregory King, William Y Shi, Robert G Weintraub, Yves d'Udekem, Christian P Brizard, Igor E Konstantinov
BACKGROUND: Single-ventricle palliation (SVP) for children with unbalanced atrioventricular septal defect (uAVSD) is thought to carry a poor prognosis, but limited data have been reported. METHODS: We performed a retrospective review of children with uAVSD who underwent SVP at a single institution. Data were obtained from medical records and correspondence with general practitioners and cardiologists. RESULTS: Between 1976 and 2016, a total of 139 patients underwent SVP for uAVSD...
September 24, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28026846/vascular-anatomy-of-the-thenar-eminence-its-relevance-to-a-pedicled-or-free-thenar-flap
#14
Ana Zekavica, Milan Milisavljević, Dražan Erić, Branislava Ćurčić, Sunčica Popović, Biljana Vitošević, Aleksandra Dožić, Bojan Štimec, Radovan Manojlović
BACKGROUND: The aim of this study was to clarify the arterial supply of the skin covering the prominent part of the thenar eminence in order to describe the possibility and potential for harvesting a pedicled or a free flap from the thenar eminence. MATERIALS AND METHODS: The arteries were studied in 30 post-mortem specimens of human hands; 3 previously perfused with 4% formaldehyde solution, and injected with black India ink, and 27 injected with methyl-methacrylate and afterwards corroded in 40% potassium hydroxide solution...
December 27, 2016: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28024774/three-dimensional-virtual-surgery-simulation-assisted-asymmetric-bilateral-mandibular-distraction-osteogenesis-for-a-patient-with-bilateral-condylar-fractures
#15
Myung-Jin Kim, Jihee Seo, Do-Keun Kim, Seung-Hak Baek
INTRODUCTION: Our objective was to report a patient treated with 3-dimensional virtual-surgery simulation-assisted asymmetric bilateral mandibular distraction osteogenesis. METHODS: A boy (age, 9.5 years) had mandibular hypoplasia and facial asymmetry, induced by bilateral condylar fractures at 4 years of age. The asymmetric bilateral mandibular distraction osteogenesis was planned to correct facial asymmetry and mandibular hypoplasia. The 3-dimensional virtual-surgery simulation results were 11 mm of horizontal distraction on the right side and 4...
January 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28024650/recoarctation-after-norwood-i-procedure-for-hypoplastic-left-heart-syndrome-impact-of-patch-material
#16
Keti Vitanova, Julie Cleuziou, Jelena Pabst von Ohain, Melchior Burri, Andreas Eicken, Rüdiger Lange
BACKGROUND: The development of recoarctation after the Norwood I procedure is a known complication in patients with hypoplastic left heart syndrome (HLHS). METHODS: We reviewed data on 194 consecutive patients with HLHS who underwent the Norwood I procedure between 2000 and 2015. All patients who survived until the second stage of the procedure were included. Recoarctation was defined by the need for intervention, either catheter based or surgical. The aim of our study was to determine if the patch material used for the initial arch reconstruction had an influence on the development of recoarctation...
December 23, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28018895/regional-differences-in-end-diastolic-volumes-between-3d-echo-and-cmr-in-hlhs-patients
#17
Alberto Gomez, Ozan Oktay, Daniel Rueckert, Graeme P Penney, Julia A Schnabel, John M Simpson, Kuberan Pushparajah
Ultrasound is commonly thought to underestimate ventricular volumes compared to magnetic resonance imaging (MRI), although the reason for this and the spatial distribution of the volume difference is not well understood. In this paper, we use landmark-based image registration to spatially align MRI and ultrasound images from patients with hypoplastic left heart syndrome and carry out a qualitative and quantitative spatial comparison of manual segmentations of the ventricular volume obtained from the respective modalities...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28013288/structural-cerebral-abnormalities-and-neurodevelopmental-status-in-single-ventricle-congenital-heart-disease-before-fontan-procedure
#18
Walter Knirsch, Kristina Nadine Mayer, Ianina Scheer, Ruth Tuura, Dietmar Schranz, Andreas Hahn, Kristina Wetterling, Ingrid Beck, Beatrice Latal, Bettina Reich
OBJECTIVES: Neonates with single ventricle congenital heart disease are at risk for structural cerebral abnormalities. Little is known about the further evolution of cerebral abnormalities until Fontan procedure. METHODS: Between August 2012 and July 2015, we conducted a prospective cross-sectional two centre study using cerebral magnetic resonance imaging (MRI) and neuro-developmental outcome assessed by the Bayley-III. Forty-seven children (31 male) were evaluated at a mean age of 25...
December 23, 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28012642/postoperative-cerebral-and-somatic-near-infrared-spectroscopy-saturations-and-outcome-in-hypoplastic-left-heart-syndrome
#19
George M Hoffman, Nancy S Ghanayem, John P Scott, James S Tweddell, Michael E Mitchell, Kathleen A Mussato
BACKGROUND: Circulatory vulnerability reflected by low systemic venous oxygen saturation after surgical palliation of hypoplastic left heart syndrome predicts adverse neurologic outcome and reduced survival, and targeting venous saturation may improve outcome. We herein test the hypothesis that near-infrared spectroscopy (NIRS)-derived cerebral and somatic/renal regional saturations can predict survival. METHODS: Patient data, from a prospective Institutional Review Board-approved registry of hemodynamic measures after initial palliation of hypoplastic left heart syndrome, were analyzed with logistic and multivariable mixed regression methods to determine relationships between standard hemodynamic measures, direct and NIRS measures of saturation, and outcome...
December 21, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28009801/classification-of-cruciate-ligament-dysplasia-and-the-severity-of-congenital-fibular-deficiency
#20
Janet L Walker, Todd A Milbrandt, Henry J Iwinski, Vishwas R Talwalkar
BACKGROUND: Dysplasia of the cruciate ligaments has been found in many patients with congenital fibular deficiency. A recent classification system has shown that radiographic tibial spine changes can predict the hypoplasia and aplasia of the cruciate ligaments. We used this radiographic classification to determine the frequency of these abnormalities and how they correlate with the severity of fibular deficiency and lateral femoral condylar hypoplasia. METHODS: Using a hospital database search for fibular deficiency, 99 patients ≥6 years with unilateral fibular deficiency were identified...
December 22, 2016: Journal of Pediatric Orthopedics
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