keyword
MENU ▼
Read by QxMD icon Read
search

Congenital malformations

keyword
https://www.readbyqxmd.com/read/28637106/-a-case-of-hemorrhage-of-an-esophageal-duplication-cyst-improved-by-endoscopic-drainage
#1
In Sub Han, Gwang Ha Kim, Seong Jun Lee, Bong Eun Lee, Hoseok I, Yeong Dae Kim
Esophageal duplication cyst is a rare congenital gastrointestinal malformation. It is the second most common duplication cyst following small bowel duplication cyst in the gastrointestinal tract. Patients with an esophageal duplication cyst are generally asymptomatic; however, some patients may present the following symptoms: dysphagia, chest pain, stridor, unproductive cough, and epigastric discomfort by compression of the surrounding structures. Surgical removal is the treatment of choice in symptomatic cases and can be considered in asymptomatic cases if they are at risk for developing complications, such as ulceration or perforation...
June 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28637056/-urosepsis-in-children
#2
Josef Oswald
Urinary tract infections (UTI) are the most common infectious diseases in children. Urosepsis in childhood, though rare, is the most complicated possible variant. In newborns and infants, unspecific symptoms are a significant barrier to a fast and reliable diagnosis, which is crucial to successful treatment. In addition to urine and laboratory tests as well as non-invasive examinations (ultrasound), there may be an indication for invasive examinations of the kidneys (DMSA scans) in cases of a severe infection...
June 21, 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28636057/symmetrical-brachydactyly-in-a-dog
#3
Megan T Cray, Ursula Krotscheck, Anthony J Fischetti, Kim Tong
Congenital malformations of the canine manus and pes are infrequently reported in the veterinary literature. This includes brachydactyly which is a general term used to indicate the shortening of digits due to abnormal development of the phalanges, metacarpals, or metatarsals. This case report describes isolated brachydactyly in a one-year-old male Maremma Sheepdog affecting all of the phalanges, metacarpals, and metatarsals of digits two through five. This condition was confirmed by determining the length of each phalanx, metacarpal, and metatarsal of the affected dog as well as an unaffected littermate...
June 21, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28633737/linear-verrucous-hemangioma-of-the-upper-limb-a-rare-case
#4
Thansiha Nargis, Malcolm Pinto, Satish Bhat, Manjunath Shenoy M
Verrucous hemangioma is a rare, congenital vascular malformation of the cutaneous and subcutaneous tissue. It is usually present at birth and gradually increases in size and number with age; occasionally it presents in later adulthood. It has a predilection for the lower extremity and usually presents as warty or hyperkeratotic, bluish and partly confluent papules and plaques. Verrucous hemangioma occurring in a linear pattern is an even more uncommon presentation and very few cases have been reported. We report a boy with verrucous hemangioma localized to the left upper extremity in a linear pattern...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#5
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633635/maternal-use-of-selective-serotonin-reuptake-inhibitors-during-pregnancy-is-associated-with-hirschsprung-s-disease-in-newborns-a-nationwide-cohort-study
#6
Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist
BACKGROUND: Hirschsprung's disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung's disease. Two clinical cases of hirschsprung's disease led to an investigation of the association between maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and development of Hirschsprung's Disease in the newborn child. The study examined a nationwide, unselected cohort of children born in Denmark from 1 January 1996 until 12 March 2016 (n = 1,256,317)...
June 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28633269/stenting-and-reimplanting-disconnected-pulmonary-artery-in-tetralogy-of-fallot
#7
Harikrishnan K N Kurup, Giedrius Baliulis, Marcus P Haw, Joseph J Vettukattil
Tetralogy of Fallot with absent pulmonary valve syndrome (TOF/APV) is a rare congenital malformation. Although pulmonary artery (PA) anomalies have been observed in TOF, its association with disconnected PA is extremely rare. We report successful stenting of the disconnected left PA in a 3-year-old boy with TOF/APV followed by surgical reimplantation. The significance of this transcatheter intervention for guidance during surgery and the importance of visualizing a ductal stump on angiography as an indicator of disconnected PA are discussed...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633199/diffuse-type-caroli-disease-with-characteristic-central-dot-sign-complicated-by-multiple-intrahepatic-and-common-bile-duct-stones
#8
Moon Joo Hwang, Tae Nyeun Kim
Caroli disease (CD) is a rare congenital malformation of the liver characterized by non-obstructive, segmental, cystic dilatation of the intrahepatic bile ducts (IHDs). The clinical course is usually asymptomatic for the first 5-20 years, and symptoms may seldom occur throughout the patient's life. Bile stagnation leads to recurrent episodes of cholangitis, stone formation, or liver abscesses, and biliary cirrhosis usually occurs years later. Here we report on a 42-year-old man diagnosed with diffuse-type CD with a characteristic central dot sign, who had multiple intrahepatic and common bile duct (CBD) stones...
June 20, 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/28631915/-multispiral-computer-tomography-in-differential-diagnosis-of-congenital-uretheroidhydronefrosis-in-children
#9
E B Khakkulov, Zh U Khusankhodzhaev
AIM: To identify the characteristic MSCT signs of pediatric ureterohydronephrosis allowing to assess the disease severity and differentiate between its various forms. MATERIAL AND METHODS: Sixty five children with III-IV grade ureterohydronephrosis underwent a comprehensive examination including MSCT urography. The study comprised 40 (61.5%) boys and 25 (38.5%) girls aged 3 months to 14 years (mean age 4.15+/-3.21 years). RESULTS: Obstructive disease was detected in 38 (58...
June 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28631675/-the-morphological-and-clinical-aspects-of-the-curvature-of-the-nasal-septum
#10
V N Krasnozhen, D A Shcherbakov, A V Volodeev, L A Musina, Yu A Garskova
The curvature of the nasal septum (NS) is one of the most widespread deformations of the facial skeleton. The objective of the present study was to substantiate the principles of and develop the rationale for the surgical correction and conservative treatment of this condition based on the morphological features of various types of deflection of the nasal septum. We have undertaken the morphological analysis of the osseous and cartilaginous structures determining the type and the shape of the curvature of the nasal septum together with the clinical analysis of different morphological variants of the deflection of the nasal septum making use of the R...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28631022/risk-analysis-and-outcomes-of-bronchopulmonary-sequestrations
#11
Chun Hong, Gang Yu, Jing Tang, QianLi Liu, Bo Xia
BACKGROUND: Researched and discussed the risks and outcomes of bronchopulmonary sequestrations, especially the intralobar type. METHODS: A retrospective review of our experiences with bronchopulmonary sequestrations from January 2012 to April 2015 is reported. The present study researched and discusses the risks and outcomes of bronchopulmonary sequestrations, especially the intralobar type, compared with other types of bronchopulmonary sequestrations in symptoms, surgery, pathology, and excretion...
June 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28630544/pregnancies-and-fetal-anomalies-incompatible-with-life-in-chile-arguments-and-experiences-in-advocating-for-legal-reform
#12
Lidia Casas, Lieta Vivaldi
Chile allows abortion under no circumstances. Whether it's fetal anomaly incompatible with life or congenital malformation resulting in little or no life expectancy, all Chilean women are expected to carry their pregnancies to term. In this context, in January 2015 the Chilean Congress began debating a bill to legalize abortion on three grounds, including fatal congenital malformation. The medical community, including midwives, has presented its views for and against, especially on how the law may affect clinical practices; in addition, women, many of whom have experienced a fatal congenital malformation diagnosis, have weighed in...
June 2017: Health and Human Rights
https://www.readbyqxmd.com/read/28629796/large-omental-cystic-lymphangioma-masquerading-as-mucinous-ovarian-neoplasia-in-an-8-year-old-premenarchal-girl-the-findings-from-diagnostic-imaging-and-laparoscopic-assisted-excision
#13
Akihiro Takeda, Hiroaki Ito, Hiromi Nakamura
BACKGROUND: Omental cystic lymphangioma is an extremely rare abdominal mass caused by congenital malformation. CASE: An 8-year-old premenarchal girl reported abdominal pain. Diagnostic imaging revealed a large multicystic mass measuring 22 cm in diameter, which occupied the entire abdominal cavity with ascites. Emergency laparoscopy revealed a ruptured large cystic mass originating from the greater omentum; this was followed by successful laparoscopic-assisted excision...
June 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#14
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#15
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28627851/zika-virus-practical-guidelines
#16
Gilles Eperon, Manuel Schibler, Noémie Wagner, François Chappuis, Isabelle Eperon
Zika virus suddenly emerged in Latin America in 2015‑2016. Congenital malformations have been observed in infected pregnant women, causing a major public health impact in affected countries, particularly in Brazil. In addition, sexual transmission of Zika virus has been well documented. This led to the development of prevention strategies and recommendations for travellers visiting at risk countries. These documents are regularly amended depending on the evolution of scientific knowledge, the epidemiologic trends and the national and international guidelines...
May 3, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#17
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#18
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28626764/does-chemotherapy-for-gynecological-malignancies-during-pregnancy-cause-fetal-growth-restriction
#19
REVIEW
Nabil Abdalla, Magdalena Bizoń, Robert Piórkowski, Paweł Stanirowski, Krzysztof Cendrowski, Włodzimierz Sawicki
Cancer and pregnancy rarely coincide. Gynecological cancers are among the most common malignancies to occur during pregnancy, and chemotherapy with or without surgery is the primary treatment option. The main concern of administering chemotherapy during pregnancy is congenital malformation, although it can be avoided by delaying treatment until after organogenesis. The dose, frequency, choice of chemotherapeutic agents, time of treatment commencement, and method of administration can be adjusted to obtain the best maternal treatment outcomes while simultaneously minimizing fetal toxicity...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#20
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
keyword
keyword
26699
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"