Journal articles: 'Congenital diseases'

1

Lees, George E. "Congenital Renal Diseases." Veterinary Clinics of North America: Small Animal Practice 26, no. 6 (November 1996): 1379–99. http://dx.doi.org/10.1016/s0195-5616(96)50133-6.

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Green, A. "Congenital Metabolic Diseases." Journal of Medical Genetics 23, no. 4 (August 1, 1986): 381. http://dx.doi.org/10.1136/jmg.23.4.381.

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3

Leonard, J. V. "Congenital Metabolic Diseases." Archives of Disease in Childhood 60, no. 9 (September 1, 1985): 895. http://dx.doi.org/10.1136/adc.60.9.895.

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Iriart, X., J. Selly, J. Thambo, A. Van De Bruaene, P. De Meester, M. Delcroix, J. Voigt, et al. "Congenital Heart Diseases." European Heart Journal - Cardiovascular Imaging 13, suppl 1 (December 1, 2012): i106—i107. http://dx.doi.org/10.1093/ehjci/jes261.

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Younis, Mira, Radhika Rastogi, Ankur Chugh, Shantanu Rastogi, and Hany Aly. "Congenital Diarrheal Diseases." Clinics in Perinatology 47, no. 2 (June 2020): 301–21. http://dx.doi.org/10.1016/j.clp.2020.02.007.

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Gorbunova, Victoria N. "Congenital metabolic diseases. Lysosomal storage diseases." Pediatrician (St. Petersburg) 12, no. 2 (August 11, 2021): 73–83. http://dx.doi.org/10.17816/ped12273-83.

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The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:10005000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, storage), which can result in cellular damage. About 60 diseases take part in this group with total incidence of about 1:70008000. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most of them have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. The etiology and pathogenetic aspects of their main clinical entities: mucopolysaccharidosis, glycolipidosis, mucolipidosis, glycoproteinosis, etc, are presented. Mucopolysaccharidoses caused by malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans are more frequent among LSD. Sphingolipidoses caused by defects of lipid catabolism are second for frequency group of LSD. The state-of-art in field of newborn screening. clinical, biochemical and molecular diagnostics of these grave diseases are discussed. The main directions of modern lysosomal storage diseases therapy are characterized: transplantation of hematopoietic stem cells; enzyme replacement therapy; therapy with limitation of substrate synthesis (substrate-reducing therapy); pharmacological chaperone therapy. Perspective directions for LSD therapy are gene therapy and genome editing which are at advanced preclinical stages.

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Bernolian, Nuswil, Radiyati Umi Partan, Siti Nurmaini, Cindy Kesty, and Benedictus Wicaksono Widodo. "Congenital Heart Diseases in Pregnancy." Bioscientia Medicina : Journal of Biomedicine and Translational Research 5, no. 4 (July 8, 2021): 988–1004. http://dx.doi.org/10.32539/bsm.v5i4.376.

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This research aims to shed light into congenital heart diseases, the pathophysiology, and the ultrasonographic findings of congenital heart diseases. Congenital heart diseases are a major health concern, affecting 1.35 million children born every year. Ventricular septal defect, atrial septal defect, and atrioventricular septal defect are found in 57.9% cases of congenital heart diseases. The risk factors include consanguineous marriage, family history of congenital heart diseases, old maternal and paternal age, and exposure to teratogens, and genetic factors. Missteps in cardiac development are the main pathophysiology of congenital heart diseases. Ultrasonography screening in 18–22 weeks gestational age is utilized to screen. Follow-up screening can increase detection rate to 80%. This study has limitation of only discussing most common congenital heart diseases and did not delve into rarer types of congenital heart diseases and did not discuss impacts or burden of congenital heart diseases in adulthood and health comorbidities associated. This literature review is beneficial for general practitioners and obstetricians focusing in maternal fetal medicine.

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Singla, Saurabh, K. Anand, Aditi Jain, and Ashok Kumar. "Congenital Cystic Lung Diseases." Journal of Clinical Imaging Science 3, no. 1 (2013): 5. http://dx.doi.org/10.4103/2156-7514.106620.

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9

Cohen, Sarah, and Laurence Iserin. "Adult congenital heart diseases." Sang thrombose vaisseaux 26, no. 1 (January 2014): 23–33. http://dx.doi.org/10.1684/stv.2013.0806.

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Drenth, Joost P. H., Melissa Chrispijn, and Carsten Bergmann. "Congenital fibrocystic liver diseases." Best Practice & Research Clinical Gastroenterology 24, no. 5 (October 2010): 573–84. http://dx.doi.org/10.1016/j.bpg.2010.08.007.

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11

Yokouchi-Konishi, Tae, Jun Yoshimatsu, Masami Sawada, Tadasu Shionoiri, Atsushi Nakanishi, Chinami Horiuchi, Mitsuhiro Tsuritani, et al. "Recurrent Congenital Heart Diseases Among Neonates Born to Mothers with Congenital Heart Diseases." Pediatric Cardiology 40, no. 4 (March 4, 2019): 865–70. http://dx.doi.org/10.1007/s00246-019-02083-6.

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12

Iordan-Dumitru, Andreea Dona, and Rodica Luca. "Oral manifestations of genetic and congenital diseases." Romanian Journal of Stomatology 61, no. 1 (March 31, 2015): 107–11. http://dx.doi.org/10.37897/rjs.2015.1.21.

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Aim. Highlighting the oral manifestations seen in various genetic syndromes and congenital patients hospitalized in a pediatric hospital in Bucharest (Romania). Methods. Retrospective study using medical records of pediatric patients (age = 1 day – 18 years) admitted for a period of three years (1.01.2010-31.12.2012). We selected only the medical records of patients diagnosed with genetic disorders and birth defects (GDD) of which were selected diseases that were associated with oral manifestations (OM). Were established for the whole lot and, separately, for each year: OM disease prevalence, age of first hospitalization, type OM, OM distribution by gender. Data were processed with the program Informatic Hypocrate/DRG. Results. Out of the 25213 hospitalized patients, 2216 (8, 78%) have GDD, between that 78 (3.51%) have been associated with OM. Anual distribution: 2010 – 9226 hospitalized patients, 730 (7.91%) GDD, between that 28 (3.83%) with OM; 2011 – 8,136 hospitalized patients, 769 (9.45%) GDD, between that 23 (2.99%) with OM; 2012 – 7,851 hospitalized patients, 717 (9.13%) GDD, between that 27 (3.76%) with OM. At 36 (46.15%) among patients with OM associated with GDD, age at first hospitalization was between one day-one year. The most frequent cases (23.07%) was cleft lip or palate and was associated with facial dysmorphism and mental retardation. In 20.51% of cases were associated with dental Anomalies of number and structure, in 11, 53% cases – Dental Anomalies of shapes, in 8.97% cases of micro/macroglossia. In a few cases met: mandibular hypoplasia and mucocutaneous. There were no differences between the two sexes. Conclusions. A great variety of OM was found in about 3.51% of hospitalized patients with GDD. Most of them were cleft lip or palate and required multidisciplinary intervention at very early age.

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Zakharova, M. L., and P. V. Pavlov. "CONGENITAL LARYNX DISEASES IN CHILDREN." Russian Otorhinolaryngology 86, no. 1 (2017): 31–35. http://dx.doi.org/10.18692/1810-4800-2017-1-31-35.

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14

Chowdhury, Devyani. "Pathophysiology of congenital heart diseases." Annals of Cardiac Anaesthesia 10, no. 1 (2007): 19. http://dx.doi.org/10.4103/0971-9784.37920.

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15

Bakhru, Shweta. "Pregnancy in Congenital Heart Diseases." Indian Journal of Cardiovascular Disease in Women WINCARS 03, no. 02/03 (August 2018): 126–31. http://dx.doi.org/10.1055/s-0038-1676667.

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AbstractCongenital heart diseases (CHDs) affect 0.8 to 1.5% of general population. With increase in awareness and medical services, more number of patients with CHDs have entered into adulthood. One of the peculiar physiologic changes in women is going through pregnancy. Misconceptions are common in women with CHD. This write-up is to provide some brief information about CHD patients going through pregnancy. General cardiovascular risk and individual disease-related risks are discussed.

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16

Bush, Andrew. "Rare Lung Diseases: Congenital Malformations." Indian Journal of Pediatrics 82, no. 9 (June 23, 2015): 833–40. http://dx.doi.org/10.1007/s12098-015-1800-9.

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17

Desurkar, Vinayak, and SandipWaman Junghare. "Congenital heart diseases and anaesthesia." Indian Journal of Anaesthesia 61, no. 9 (2017): 744. http://dx.doi.org/10.4103/ija.ija_415_17.

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18

Ishiyama, Akihiko. "S7-3 Congenital muscular diseases." Clinical Neurophysiology 130, no. 10 (October 2019): e193. http://dx.doi.org/10.1016/j.clinph.2019.06.099.

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19

Nandanvankar, Datta, Vaishali S. Anturlikar, and Swapna B. Parate. "A Qualitative Study of Palmar Dermatoglyphics in Congenital Heart Diseases." Indian Journal of Anatomy 7, no. 2 (2018): 193–98. http://dx.doi.org/10.21088/ija.2320.0022.7218.15.

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Anturlikar, Vaishali S., Datta Nandanvankar, and Prashant Bhusari. "A Quantitative Study of Palmar Dermatoglyphics in Congenital Heart Diseases." Indian Journal of Anatomy 7, no. 4 (2018): 424–29. http://dx.doi.org/10.21088/ija.2320.0022.7418.13.

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21

Shah, Prashant, Kunjang Sherpa, Naveen Kumar Pandey, Bhawani Manandhar, and Sahadeb Prasad Dhungana. "Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience." Journal of College of Medical Sciences-Nepal 12, no. 4 (January 19, 2017): 137–42. http://dx.doi.org/10.3126/jcmsn.v12i4.15593.

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Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease. The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5%) followed by cyanotic congenital heart disease (14.2%) and obstructive congenital heart disease (4.3%). Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52%) which was followed by ventricular septal defect (28.8%) and patent ductus arteriosus (14.8%). Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%). Rarer entities, like d-transposition of great arteries, congenitally corrected transposition of great arteries, various types of total anomalous pulmonary venous drainage, double inlet left ventricle, interrupted aortic arch, Shone complex, etc. were also observed, however represented only the minority of the study population.Conclusion: The spectrum of congenital heart disease seen in this study very likely and only represents the tip of the iceberg. Public awareness programmes and training of health care personnel needs to be emphasized in order to facilitate its early diagnosis and improve its outcome.

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22

ElMagd, Mohamed, Mohamed ElMaraghy, Mohamed Abdelrahim, Khaled Meguid, and Mohamed Meabed. "Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism." Archives of Clinical and Experimental Surgery (ACES) 2, no. 2 (2013): 85. http://dx.doi.org/10.5455/aces.20121118032848.

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23

Ilyas, Sana, Sana Waqar, Asim Khurshid, and Muhammad Sohail Arshad. "Congenital heart diseases in premature newborns." Professional Medical Journal 28, no. 08 (August 1, 2021): 1178–82. http://dx.doi.org/10.29309/tpmj/2021.28.08.6126.

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Objective: To determine the frequency of congenital heart diseases (CHD) in newborns admitted with prematurity. Study Design: Descriptive Cross Sectional study. Setting: Department of Pediatric Neonatology Children’s Hospital & The Institute of Child Health, Multan. Period: August 2019 to January 2020. Material & Methods: A total of 155 preterm infants ≤36 weeks gestation were included. In preterm newborns of either gender, echocardiography was done by hospital Pediatric Cardiologist. Patient’s name, age, gestational age, weight, sex, date, serial number, registration number and echocardiographic results were entered in pre-designed performa. The outcome variable was frequency of congenital heart disease in preterm newborns. Results: Congenital heart disease was detected in 34.8% (n = 54) preterm infants. Nine percent (n=14) were < 1.5 kg, 45.2% (n=70) between 1.5 – 2.0 kg and 45.8% (n=71) were > 2.0 kg in weight. Most frequent lesion was Ventricular Septal Defect (VSD) in 19 (35%) infants followed by patent ductus arteriosus (PDA) in 15 (28%) infants. Atrial Septal Defect (ASD) was seen in 6 (11%) preterm infants. Frequency of CHD was significantly higher (p-value < 0.001) in babies delivered at ≤32 weeks and those infants with with birth weight <1.5 kg. Conclusion: The study highlights the association of congenital heart diseases in premature and low birth weight neonates. So, every preterm and low birth weight neonate must undergo echocardiography to screen for CHD so that earlier diagnosis may be made for earlier intervention.

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24

Wieloch, Radi, Nihat Firat Sipahi, Udo Boeken, Alexander Albert, Payam Akhyari, Ralf Westenfeld, Artur Lichtenberg, and Diyar Saeed. "Ventricular assist device in a patient with congenitally corrected transposition of the great arteries and situs inversus totalis." International Journal of Artificial Organs 42, no. 6 (January 10, 2019): 321–22. http://dx.doi.org/10.1177/0391398818823768.

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Congenitally corrected transposition of the great arteries and situs inversus totalis are rare congenital anomalies. While congenital heart diseases affect about 0.75%–0.9% of newborns, less than 1% of them have congenitally corrected transposition of the great arteries. Meanwhile, the incidence of situs inversus totalis is about 0.01%. This is a case report of a patient with congenitally corrected transposition of the great arteries and situs inversus totalis who was supported with a ventricular assist device, resulting in a challenging clinical scenario.

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25

Vasiliev, V. V. "CONGENITAL INFECTIOUS DISEASES IN GENERAL PRACTICE." Russian Family Doctor 17, no. 1 (December 15, 2013): 16. http://dx.doi.org/10.17816/rfd2013116-22.

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26

Platt, TerranceA. "Eisenmenger Syndrome and Congenital Heart Diseases." PVRI Review 5, no. 1 (2013): 15. http://dx.doi.org/10.4103/0974-6013.118823.

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27

Saxena, Anita. "Pulmonary hypertension in congenital heart diseases." PVRI Review 1, no. 2 (2009): 101. http://dx.doi.org/10.4103/0974-6013.50727.

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28

Kim, Young Whan. "Congenital and Rare Pulmonay Vasucular Diseases." Tuberculosis and Respiratory Diseases 48, no. 4 (2000): 411. http://dx.doi.org/10.4046/trd.2000.48.4.411.

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29

Weinberg, Kenneth I., and Donald B. Kohn. "GENE THERAPY FOR CONGENITAL IMMUNODEFICIENCY DISEASES." Immunology and Allergy Clinics of North America 16, no. 2 (May 1996): 453–76. http://dx.doi.org/10.1016/s0889-8561(05)70256-3.

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30

Fuller, Stephanie, and Chitra Ravishankar. "Acquired and Congenital Coronary Artery Diseases." Pediatric Critical Care Medicine 17 (August 2016): S356—S361. http://dx.doi.org/10.1097/pcc.0000000000000816.

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31

OLGUN, NUR, KAMER MUTAFOǦLU UYSAL, GüLERSU IRKEN, NURETTIN üNAL, BüLENT üNDAR, NURULLAH AKKOÇ, ADNAN AKÇORAL, FAIK SARIALIOǦLU, and NAMIK ÇEVIK. "Platelet activation in congenital heart diseases." Pediatrics International 39, no. 5 (October 1997): 566–69. http://dx.doi.org/10.1111/j.1442-200x.1997.tb03642.x.

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32

Woollen, Neal E. "Congenital Diseases and Abnormalities of Pigs." Veterinary Clinics of North America: Food Animal Practice 9, no. 1 (March 1993): 163–81. http://dx.doi.org/10.1016/s0749-0720(15)30679-4.

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33

Livesley, Brian. "‘Little Keats’ and His Congenital Diseases." Keats-Shelley Review 26, no. 2 (September 2012): 91–99. http://dx.doi.org/10.1179/0952414212z.0000000009.

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34

Michels, Virginia V. "Congenital Metabolic Diseases: Diagnosis and Treatment." Mayo Clinic Proceedings 61, no. 1 (January 1986): 79–80. http://dx.doi.org/10.1016/s0025-6196(12)61410-4.

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35

Gaughan, Earl M., and Richard M. DeBowes. "Congenital Diseases of the Equine Head." Veterinary Clinics of North America: Equine Practice 9, no. 1 (April 1993): 93–110. http://dx.doi.org/10.1016/s0749-0739(17)30417-0.

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36

Girolami, Antonio, Silvia Ferrari, Elisabetta Cosi, and Bruno Girolami. "Cardiovascular diseases in congenital prekallikrein deficiency." Blood Coagulation & Fibrinolysis 29, no. 5 (July 2018): 423–28. http://dx.doi.org/10.1097/mbc.0000000000000735.

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37

Suarez, Jose, Mark Cohen, and Henry Kaminski. "Congenital Neuromuscular Diseases Presenting in Adulthood." Seminars in Neurology 16, no. 01 (March 1996): 47–54. http://dx.doi.org/10.1055/s-2008-1040959.

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38

Neto, Eurico Camargo, Rosélia Rubin, Jaqueline Schulte, and Roberto Giugliani. "Newborn Screening for Congenital Infectious Diseases." Emerging Infectious Diseases 10, no. 6 (June 2004): 1069–73. http://dx.doi.org/10.3201/eid1006.030830.

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39

Rigatelli, Gianluca, and Giorgio Rigatelli. "Congenital Heart Diseases in Aged Patients." Cardiology in Review 13, no. 6 (November 2005): 293–96. http://dx.doi.org/10.1097/01.crd.0000145928.08280.ef.

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40

Rohit, Manojkumar, and Smit Shrivastava. "Acyanotic and Cyanotic Congenital Heart Diseases." Indian Journal of Pediatrics 85, no. 6 (September 30, 2017): 454–60. http://dx.doi.org/10.1007/s12098-017-2454-6.

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41

Jung, Jo Won. "Echocardiography in Adult Congenital Heart Diseases." Journal of the Korean Society of Echocardiography 13, no. 3 (2005): 100. http://dx.doi.org/10.4250/jkse.2005.13.3.100.

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42

Livesley, Brian. "'Little Keats' and His Congenital Diseases." Bulletin of the Royal College of Surgeons of England 94, no. 4 (April 1, 2012): 1–7. http://dx.doi.org/10.1308/147363512x13189526440519.

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Many articles and detailed biographies about John Keats (1795–1821) describe how he qualified as an apothecary in 1816 but I have found no evidence that those who have written about him, including several medical practitioners, have explored the significance of his small height. This was stated by his personal friend and portrait painter, Joseph Severn, to have been five feet and three quarters of an inch. It is therefore not surprising he was called 'Little Keats's by his fellow surgical students at Guy's Hospital.

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Hajdu, J., A. Beke, T. Marton, E. Hruby, B. Pete, and Z. Papp. "Congenital Heart Diseases in Twin Pregnancies." Fetal Diagnosis and Therapy 21, no. 2 (2006): 198–203. http://dx.doi.org/10.1159/000089303.

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Thammineni, K., J. Lohr, M. Trefz, and S. Sivanandam. "Familial recurrence of congenital heart diseases." Journal of Perinatology 31, no. 11 (October 31, 2011): 742–43. http://dx.doi.org/10.1038/jp.2011.48.

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Hajdu, J., A. Beke, T. Marton, K. E. Hruby, B. Pete, and Z. Papp. "Congenital Heart Diseases in Twin Pregnancies." Obstetrical & Gynecological Survey 61, no. 6 (June 2006): 374–75. http://dx.doi.org/10.1097/01.ogx.0000219490.48720.45.

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Spoor, Jonathan, Hamid Farajifard, and Nima Rezaei. "Congenital neutropenia and primary immunodeficiency diseases." Critical Reviews in Oncology/Hematology 133 (January 2019): 149–62. http://dx.doi.org/10.1016/j.critrevonc.2018.10.003.

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47

Abdulla, Ra-id. "Ancient Observations of Congenital Heart Diseases." Pediatric Cardiology 19, no. 2 (March 1998): 173. http://dx.doi.org/10.1007/s002469900273.

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48

Nawa, Tomohiro, Masato Yokozawa, Tsutomu Wada, Keiji Haseyama, and Motoki Takamuro. "Congenital Heart Diseases Associated with Congenital Anomalies of the Gastrointestinal Tract." Pediatric Cardiology and Cardiac Surgery 31, no. 4 (2015): 192–98. http://dx.doi.org/10.9794/jspccs.31.192.

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Wright, David JM. "Congenital neurosyphilis." Lancet Infectious Diseases 13, no. 6 (June 2013): 474. http://dx.doi.org/10.1016/s1473-3099(13)70079-3.

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de Souza Campos Fernandes, Regina Célia, and Enrique Medina-Acosta. "Congenital neurosyphilis." Lancet Infectious Diseases 13, no. 6 (June 2013): 474–75. http://dx.doi.org/10.1016/s1473-3099(13)70080-x.

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Journal articles on the topic 'Congenital diseases'

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