Symptomatic neonatal tetralogy of Fallot K

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Symptomatic neonatal tetralogy of Fallot   K

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RES E A R C H Open Access Men’s knowledge and awareness of maternal, neonatal and child health care in rural Bangladesh: a comparative cross sectional study Hashima E Nasreen 1 , Margaret Leppard 2 , Mahfuz Al Mamun 1* , Masuma Billah 1 , Sabuj Kanti Mistry 1 , Mosiur Rahman 3 and Peter Nicholls 4 Abstract Background: The status of men’s kno wledge of and awareness to maternal, neonatal and child health care are largely unknown in Bangladesh and the effect of community focused interventions in improving men’s knowledge is largely unexplored. This study identifies the extent of men’s knowledge and awareness on maternal, neonatal and child health issues between intervention and control groups. Methods: This cross sectional comparative study was carried out in six rural districts of Bangladesh in 2008. BRAC health programme operates ‘improving maternal, neonatal and child survival’ intervention in four of the above- mentioned six districts. The intervention comprises a number of components including improving awareness of family planning, identification of pregnancy, providing antenatal, delivery and postnatal care, newborn care, under-5 child healthcare, referral of complications and improving clinical management in health facilities. In addition, communities are empowered through social mobilization and advocacy on best practices in maternal, neonatal and child health. Three groups were identified: intervention (2 years exposure); transitional (6 months exposure) and control. Data were collected by interviewing 7,200 men using a structured questionnaire. Results: Men prefer to gather in informal sites to interact socially. Overall men’s knowledge on maternal care was higher in intervention than control groups, for example, advice on tetanus injection should be given during antenatal care (intervention = 50%, control = 7%). There were low levels of knowledge about birth preparedness (buying delivery kit = 18%, arra nging emergency transport = 13%) and newborn care (wrapping = 25%, cord cutting with sterile blade = 36%, cord tying with sterile thread = 11%) in the intervention. Men reported joint decision-making for delivery care relatively frequently (intervention = 66%, control = 46%, p < 0.001). Conclusion: Improvement in men’s knowledge in intervention district is likely. Emphasis of behaviour change communications messages should be placed on birth preparedness for clean delivery and referral and on newborn care. These messages may be best directed to men by targeting informal meeting places like market places and tea stalls. Keywords: Men’s knowledge, Improving Maternal, Neonatal and Child Survival (IMNCS), Women’s reproductive health, Essential newborn care, Bangladesh * Correspondence: mahfuz.m@brac.net 1 Research and Evaluation Division, BRAC Centre, Dhaka, Bangladesh Full list of author information is available at the end of the article © 2012 Nasreen et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Nasreen et al. Reproductive Health 2012, 9:18 http://www.reproductive-health Symptomatic neonatal tetralogy of Fallot: repair or shunt ? Definition • Lesions occurs in of every 10,000 live births, and accounts for 7–10% of all congenital cardiac malformations Anatomic Features 1) RVOT obstruction (infundibular stenosis) 2) VSD 3) Aorta dextroposition, overrides VSD 4) RV hypertrophy The VSD and infundibular stenosis determine the pathophysiologic features Definition Controversy • Some centres will perform complete repairs in all neonates Others will palliate symptomatic neonates, and perform a complete repair in all patients at the age of to months Complete neonatal repair( adv) • Prompt relief of the volume and pressure overload on the right ventricle, • Minimises cyanosis, decreases parental anxiety, and eliminates the theoretical risk of stenosis occurring in a pulmonary artery due to a palliative procedure • Frederique Bailliard, Robert H Anderson ReviewTetralogy of Fallot Orphanet Journal of Rare Diseases 2009, 4:2 Complete neonatal repair( adv) • Early repair, providing adequate pulmonary blood flow, with homogeneous distribution to both lungs, allows normal growth and development of the pulmonary arteries • This is an advantage considering the potential negative effects on the pulmonary arteries of a systemic-topulmonary shunt Complete neonatal repair( adv) • Patients who undergo a successful complete repair during the neonatal period will be unlikely to require more than one intervention in the first year of life, but are not free from reintervention Complete neonatal repair( disadv) • Shunting or primary repair of neonates with symptomatic TOF provides equivalent mortality and results • The primary repair patients more frequently had a transannular patch and a tendency to more frequent delayed sternal closure Complete neonatal repair( disadv) • Shunted patients had fewer transannular patch repairs despite having more emergent initial operations • Compared with the primary repair group, shunted patients had decreased intensive care unit and hospital stays for the first hospitalization, which were neutralized when the second operation (repair) values were added • Kanter KR, Kogon BE, Kirshbom PM, Carlock PR Symptomatic neonatal tetralogy of Fallot: repair or shunt? Ann Thorac Surg 2010 Mar;89(3):85863 Complete neonatal repair( disadv) • Neonatal complete repairs include exposure of the neonatal brain to cardiopulmonary bypass, and the increased need to place a patch across the ventriculo-pulmonary junction when compared to older age at repair • • Hirsch J, Mosca R, Bove E: Complete repair of tetralogy of Fallot in the neonate Annals of Surgery 2000, 232(4):508-514 25 Stewart RD, Backer CL, Young L, Mavroudis C: Tetralogy of Fallot: Results of a pulmonary valve-sparing strategy Annals of Thoracic Surgery 2005, 80:1431-1439 Complete neonatal repair( disadv) • Transannular patches, create a state of chronic pulmonary regurgitation, which increases morbidity in young adults, producing exercise intolerance and ventricular arrhythmias.If left untreated, this increases the risk of sudden death • • • Nollert G, Fischlein T, Bouterwek S, Böhmer C, Klinner W, Reichart B: Long-term survival in patients with repair of TOF: 36-year follow-up of 490 survivors of the first year after surgical repair The Journal of the American College of Cardiology 1997, 30:1374-1383 Helbing WA, Roest AA, Niezen RA, Vliegen HW, Hazekamp MG, Ottenkamp J, de Roos A, Wall EE van der: ECG predictors of ventricular arrhythmias and biventricular size and wall mass in tetralogy of Fallot with pulmonary regurgitation Heart 2002, 88:515-520 Gatzoulis MA, Till JA, Somerville J, Redington AN: Mechanoelectrical interaction in tetralogy of Fallot, QRS prolongation relates to right ventricular size and predicts malignant ventricular arrhythmias and sudden death Circulation 1995, 92(2):231-237 Complete neonatal repair( disadv) • The effect of cardiopulmonary bypass on the neonatal brain, and the associated risk of longer stay in hospital and the intensive care unit, is not trivial • Studies of neurodevelopmental outcomes of neonates undergoing cardiopulmonary bypass compared to older children have shown lower intelligence quotients in patients exposed to bypass as neonates • Miller G, Tesman JR, Ramer JC, Baylen BG, Myers JL: Outcome after open-heart surgery in infants and children Journal of Child Neurology 1996, 11(1):49-53 Complete neonatal repair( disadv) • Longer periods of bypass, and longer stays in the intensive care unit, have been associated with an increased risk for neurological events and abnormal neurological findings on followup • • Limperopoulos C, Majnemer A, Shevell MI, Rohlicek C, Rosenblatt B, Tchervenkov C, Darwish HZ: Predictors of developmental disabilities after open heart surgery in young children with congenital heart defects The Journal of Pediatrics 2002, 141(1):52-58 Fallon P, Aparício JM, Elliott MJ, Kirkham FJ: Incidence of neurological complications of surgery for congenital heart ...The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1 Corrado Guarnaccia, Somdutta Dhir, Alessandro Pintar and Sa ´ ndor Pongor Protein Structure and Bioinformatics Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy Introduction The Notch signaling pathway is a highly connected and tightly regulated signal transduction framework that, together with a restricted number of other signal- ing networks, drives developmental processes in all metazoans. Notch signaling controls cell lineage deci- sions in tissues derived from all three primary germ lines: endoderm, mesoderm and ectoderm, thus playing an essential role in organogenesis [1–3]. Faults in the Notch-mediated signaling network have been associ- ated with very different pathologies, such as some cancers (T-cell acute lymphoblastic leukemia, mucoepidermoid carcinoma) [4–6]; several genetic disorders [Alagille syndrome (AGS), tetralogy of Fallot, spondylocostal dysostosis, cerebral autosomal dominant arteriopathy with subcortical infarcts] [7]; and possibly autoimmune diseases, such as multiple sclerosis [8]. Both receptors and ligands are membrane-bound proteins, and this restricts signaling to adjacent cells. Of the five Notch ligands identified in man, Jagged-1 Keywords Alagille syndrome; disease mutation; limited proteolysis; Notch signaling; oxidative folding Correspondence A. Pintar or S. Pongor, AREA Science Park, Padriciano 99, I-34149 Trieste, Italy Fax: +39 040 226555 Tel: +39 040 3757354 E-mail: pintar@icgeb.org; pongor@icgeb.org (Received 30 June 2009, revised 25 August 2009, accepted 27 August 2009) doi:10.1111/j.1742-4658.2009.07333.x Notch signaling controls spatial patterning and cell-fate decisions in all metazoans. Mutations in JAG1, one of the five Notch ligands in man, have been associated with Alagille syndrome and with a familial form of tetral- ogy of Fallot. A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. To investigate the effects of this mutation, we studied the in vitro oxidative folding of the wild-type and mutant peptides encompassing the second epi- dermal growth factor. We found that the G274D mutation strongly impairs the correct folding of the epidermal growth factor module, and folding can- not be rescued by compensative mutations. The 274 position displays very low tolerance to substitution because neither the G274S nor the G274A mutants could be refolded in vitro. A sequence comparison of epidermal growth factor repeats found in human proteins revealed that the pattern displayed by the second epidermal growth factor is exclusively found in Notch ligands and that G274 is absolutely conserved within this group. We carried out a systematic and comprehensive analysis of mutations found in epidermal growth factor repeats and show that specific residue require- ments for folding, structural integrity and correct post-translational processing may provide a rationale for most of the disease-associated mutations. Abbreviations AGS, Alagille syndrome; cbEGF, calcium-binding epidermal growth factor; DSL, Delta ⁄ Serrate ⁄ LAG2; EGF, epidermal growth factor; EGF1, first epidermal growth factor; EGF2, second epidermal growth RESEARCH Open Access Palliative radiotherapy in patients with a symptomatic pelvic mass of metastatic colorectal cancer Sun Hyun Bae 1 , Won Park 1* , Doo Ho Choi 1 , Heerim Nam 2 , Won Ki Kang 3 , Young Suk Park 3 , Joon Oh Park 3 , Ho Kyung Chun 4 , Woo Yong Lee 4 , Seong Hyeon Yun 4 and Hee Cheol Kim 4 Abstract Background: To evaluate the palliative role of radiotherapy (RT) and define the effectiveness of chemotherapy combined with palliative RT (CCRT) in patients with a symptomatic pelvic mass of metastatic colorectal cancer. Methods: From August 1995 to December 2007, 80 patients with a symptomatic pelvic mass of metastatic colorectal cancer were treated with palliative RT at Samsun g Medical Center. Initial presenting symptoms were pain (68 cases), bleeding (18 cases), and obstruction (nine cases). The pelvic mass originated from rectal cancer in 58 patients (73%) and from colon cancer in 22 patients (27%). Initially 72 patients (90%) were treated with surgery, including 64 complete local excisions; 77% in colon cancer and 81% in rectal cancer. The total RT dose ranged 8- 60 Gy (median: 36 Gy) with 1.8-8 Gy per fraction. When the a/b for the tumor was assumed to be 10 Gy for the biologically equivalent dose (BED), the median RT dose was 46.8 Gy 10 (14.4-78). Twenty one patients (26%) were treated with CCRT. Symptom palliation was assessed one month after the completion of RT. Results: Symptom palliation was achieved in 80% of the cases. During the median follow-up period of five months (1-44 months), 45% of the cases experienced reappearance of symptoms; the median symptom control duration was five months. Median survival after RT was six months. On univariate analysis, the only significant prognostic factor for symptom control duration was BED ≥40 Gy 10 (p < 0.05), and CCRT was a marginally significant factor (p = 0.0644). On multivariate analysis, BED and CCRT were significant prognostic factors for symptom control duration (p < 0.05). Conclusions: RT was an effective palliation method in patients with a symptomatic pelvic mass of metastatic colorectal cancer. For improvement of symptom control rate and duration, a BED ≥ 40 Gy 10 is recommended when possible. Considering the low morbidity and improved symptom palliation, CCRT might be considered in patients with good perfo rmance status. Keywords: metastatic colorectal cancer, pelvic recurrence, palliative radiation therapy, concurrent chemoradiotherapy Background Local recurrence of colorectal cancer after surgery occurred in 10-40% of patients [1-4]. Although local control has been improved with adjuvant chemot herapy and radiotherapy (RT), approximately 10-25% of patients still develop recurrence of disease in the pelvis [5-7]. Pelvic r ecurrence contributes signi ficantly to the clinical course and is one of the major problems affecting the quality of life in these patients [8,9]. The role of primary tumor resection for non-curable stage IV colorectal cancer remains undefined. Kleespies et al. reported that palliative resection was associated with a particularly unfavorable outcome in rectal cancer patients presenting with locally advanced lesion expected macroscopic residual tumor or an extensive comorbidity [10]. Patients with prior curative resection * Correspondence: wonro.park@samsung.com 1 Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Full list of author information is available at the end of the article Bae et al. Radiation Oncology 2011, 6:52 http://www.ro-journal.com/content/6/1/52 © 2011 Bae et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribu tion License (h ttp://creativecommons.org/licenses/by/2.0), which permits unrestr icted use, distribution, and reproduction in any medium, provided the original work is properly cite d. of colorectal cancer often present with pelvic pain, one of the common Case report Open Access Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature Jesus E Dueñas-Arias 1† , Eliakym Arámbula-Meraz 2† , Luis O Frías-Castro 1 , Rosalio Ramos-Payán 2 , Jose A Quibrera-Matienzo 1 , Fred Luque-Ortega 2 and E Maribel Aguilar-Medina 2 * Addresses: 1 Departamento de Genética, Hospital Pediátrico de Sinaloa, Culiacán, Sinaloa, Mexico 2 Posgrados en Biotecnología y Ciencias Biomédicas, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, Mexico Email: JEDA † - jedanet@yahoo.com; EAM † - eliakymarambula@hotmail.com; LOFC - lofc57@gmail.com; RRP - ramospayan@yahoo.com.mx; JAQM - jedanet@yahoo.com; FLO - fredluque1@hotmail.com; EMAM* - maribela2@excite.com * Corresponding author † Equal contribution Received: 16 January 2009 Accepted: 8 May 2009 Published: 8 September 2009 Journal of Medical Case Reports 2009, 3:9215 doi: 10.4076/1752-1947-3-9215 This article is available from: http://jmedicalcasereports.com/jmedicalcasereports/article/view/9215 © 2009 Dueñas-Arias et al.; licensee Cases Network Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Introduction: Macrocephal y-capillary malformati on syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously been reported in association with this syndrome. Case presentation: We present a case of a Mexican newborn girl with tetralogy of Fallot associated with macrocephaly-capillary malformation. We discuss the clinical treatment of the patient and its consequences. Conclusion: Since physiologic cutis marmorata is a commo n condit ion in newborns, the information provided in this report could be helpful in future cases in preventing severe clinical consequences or sudden death in patients with similar symptoms. Introduction In 1975, Stephan et al. described 10 patients with cutaneous vascular anomalies, congenital macrocephaly and corporal asymmetry [1]. Until the detailed descrip- tions of new cases in 1997, however, the association among these cutaneous and congenital anomalies were recognized as a new syndrome called macrocephaly cutis marmorata telangiectatica congenita (M-CMTC) syn- drome (Online Mendelian Inheritance in Man (OMIM) 602501) [2,3]. Recently, T oriello and Mulliken [4] suggested that the syndrome be renamed macrocephaly- capillary malformation (M-CM) because this term more Page 1 of 3 (page number not for citation purposes) accurately describes the cutaneous vascular anomalies. Approximately 100 cases of this condition have been reported, and men and women appear equally affected. The syndrome is characterized by cutaneous vascular malformations including cutis marmorata telangiectatica and hemangiomas associated with congenital anomalies such as macrosomia, asymmetry, macrocephaly and mental retardation. Other complications can be experi- enced by patients with this syndrome, including con- genital cardiopathies, which can result in more severe complications. The presence of tetralogy of Fallot (ToF), however, has not been reported in any other patient. Here we described a newborn girl that presented with M-CM and ToF. Case report An infant girl was born as the sixth child to 35-year-old unrelated Mexican parents without a remarkable family medical history. She was delivered by Cesarean section after only 38 weeks of gestation BioMed Central Page 1 of 4 (page number not for citation purposes) Journal of Medical Case Reports Open Access Case report Tetralogy of Fallot with rheumatic mitral stenosis: A case report Cheemalapati Sai Krishna* 1 , Gangireddy Venkateswara Reddy †2 , Mohan Debta †3 and Nanda Kishore Panigrahi †3 Address: 1 Department of Cardio-Thoracic Surgery, Apollo Heart Institute, Visakhapatnam, Andhra Pradesh, India, 2 Department of Cardiology, King George Hospital, Visakhapatnam, Andhra Pradesh, India and 3 Department of Cardiology, Apollo Heart Institute, Visakhapatnam, Andhra Pradesh, India Email: Cheemalapati Sai Krishna* - csaikrishna@yahoo.com; Gangireddy Venkateswara Reddy - drgvreddy57@dataone.in; Mohan Debta - dr_mohan_debta@yahoo.com; Nanda Kishore Panigrahi - nandakishorepanigrahi@yahoo.co.in * Corresponding author †Equal contributors Abstract Introduction: Rheumatic and congenital heart diseases account for the majority of hospital admissions for cardiac patients in India. Tetralogy of Fallot is the most common congenital heart disease with survival to adulthood. Infective endocarditis accounts for 4% of admissions to a specialized unit for adult patients with a congenital heart lesion. This report is unique in that a severe stenotic lesion of the mitral valve, probably of rheumatic aetiology, was noted in an adult male with Tetralogy of Fallot. Case presentation: An unusual association of rheumatic mitral stenosis in an adult Indian male patient aged 35 years with Tetralogy of Fallot and subacute bacterial endocarditis of the aortic valve is presented. Conclusion: In this case report the diagnostic implications, hemodynamic and therapeutic consequences of mitral stenosis in Tetralogy of Fallot are discussed. In addition, the morbidity and mortality of infective endocarditis in adult patients with congenital heart disease are summarized. The risk of a coincident rheumatic process in patients with congenital heart disease is highlighted and the need for careful attention to this possibility during primary and follow-up evaluation of such patients emphasized. Introduction Rheumatic and congenital heart diseases account for about 65% of total cardiac admissions in India and the prevalence rate of rheumatic heart disease is reported as 0.5 to 0.67 per 1000 [1]. Coexistent rheumatic disease in patients with congenital heart defects is known to occur [2,3]. We discuss an interesting association of rheumatic mitral stenosis in an adult with tetralogy of Fallot (TF) complicated by infective endocarditis of the aortic valve. TF remains the most common type of congenital heart lesion seen beyond infancy and childhood with about 5% of patients surviving to the age of 40 years. Aortic regurgi- tation may occur in affected patients in or beyond the sec- ond decade of life, and this may predispose to infective endocarditis [4]. Mitral inflow obstruction in congenital heart disease may be due to a supramitral ring, congenital or acquired valvular stenosis and parachute mitral valve, all of which result in an elevated transmitral gradient – the hemodynamic hallmark of mitral stenosis [5]. In TF, an Published: 28 April 2008 Journal of Medical Case Reports 2008, 2:127 doi:10.1186/1752-1947-2-127 Received: 5 September 2007 Accepted: 28 April 2008 This article is available from: http://www.jmedicalcasereports.com/content/2/1/127 © 2008 Krishna et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Journal of Medical Case Reports 2008, 2:127 http://www.jmedicalcasereports.com/content/2/1/127 Page 2 of 4 (page number not for citation purposes) increasing severity of mitral stenosis potentiates the pas- sive pulmonary venous congestion which may aggravate the hypoxemia. Atrial ... added • Kanter KR, Kogon BE, Kirshbom PM, Carlock PR Symptomatic neonatal tetralogy of Fallot: repair or shunt? Ann Thorac Surg 2010 Mar;89(3):85863 Complete neonatal repair( disadv) • Neonatal. .. E: Complete repair of tetralogy of Fallot in the neonate Annals of Surgery 2000, 232(4):508-514 25 Stewart RD, Backer CL, Young L, Mavroudis C: Tetralogy of Fallot: Results of a pulmonary valve-sparing... the risk of sudden death • • • Nollert G, Fischlein T, Bouterwek S, Böhmer C, Klinner W, Reichart B: Long-term survival in patients with repair of TOF: 36-year follow-up of 490 survivors of the

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