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https://www.readbyqxmd.com/read/28770133/ectopic-scrotum-with-vacterl-association
#1
Samiul Hasan, Ashrarur Rahman Mitul, Sabbir Karim
Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28770129/pentalogy-of-cantrell-prenatal-diagnosis-delivery-and-immediate-postnatal-surgical-repair
#2
Edward Araujo Júnior, Milene Carvalho Carrilho, Bruno Rodrigues Toneto, José Cícero Stocco Guilhen
Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28767923/surgical-correction-of-ectopic-penis-and-scrotum-associated-with-bilateral-orchidopexy
#3
Daniel Santos Rocha Sobral, Helder Damásio da Silva, Eulálio Damázio
Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...
April 2017: Einstein
https://www.readbyqxmd.com/read/28758373/fetal-cerebral-ventricular-dilatation-etiopathogenic-study-of-130-observations
#4
Sihem Darouich, Lucile Boutaud, Bettina Bessières, Maryse Bonnière, Jelena Martinovic, Charlotte Mechler, Caroline Alby, Jean-Pierre Bernard, Philippe Roth, Yves Ville, Valerie Malan, Michel Vekemans, Tania Attié-Bitach, Férechté Encha-Razavi
BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014...
July 31, 2017: Birth defects research
https://www.readbyqxmd.com/read/28749718/ectopic-intralaryngo-tracheal-thyroid-tissue-causing-neonatal-death
#5
Lauren Furnas, Huda Safa, Fiona Hutchinson, Lindsay Joseph, Jane E Armes
INTRODUCTION: Ectopic thyroid tissue can be found anywhere along the embryologic path of thyroid descent. Intralaryngo-tracheal thyroid tissue is the least common site of ectopia and can present with upper airways obstruction. Its presentation in the neonate is exceptional. CASE REPORT: We describe a term female neonate with subglottic thyroid tissue causing near-total occlusion of the larynx, which led to upper airways obstruction and neonatal death. CONCLUSION: This emphasizes the importance of considering intralaryngo-tracheal tumors as a cause of acute and otherwise unexplainable respiratory distress immediately after birth...
July 27, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28747839/etiological-evaluation-of-primary-congenital-hypothyroidism-cases
#6
Diğdem Bezen, Emine Dilek, Neşe Torun, Filiz Tütüncüler
AIM: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. MATERIAL AND METHODS: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28744072/multimodality-imaging-spectrum-of-complications-of-horseshoe-kidney
#7
Hardik U Shah, Vijayanadh Ojili
Horseshoe kidney is the most common congenital renal fusion anomaly with an incidence of 1 in 400-600 individuals. The most common type is fusion at the lower poles seen in greater than 90% of the cases, with the rest depicting fusion at the upper poles, resulting in an inverted horseshoe kidney. Embryologically, there are two theories hypothesizing the genesis of horseshoe kidney - mechanical fusion theory and teratogenic event theory. As an entity, horseshoe kidney is an association of two anatomic anomalies, namely, ectopia and malrotation...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28743389/cerebrospinal-fluid-leakage-and-chiari-i-malformation-with-gorham-s-disease-of-the-skull-base-a-case-report
#8
Hiroaki Nagashima, Katsu Mizukawa, Masaaki Taniguchi, Yusuke Yamamoto, Eiji Kohmura
BACKGROUND: Gorham's syndrome is a rare bone disorder characterized by massive osteolysis of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. CASE PRESENTATION: A 25-year-old woman with Chiari I malformation associated with Gorham's syndrome presented with aggressive paresthesia following bacterial meningitis...
July 13, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28724353/marfan-syndrome-and-cardiovascular-complications-results-of-a-family-investigation
#9
Simon Antoine Sarr, Siddikatou Djibrilla, Fatou Aw, Malick Bodian, Kana Babaka, Aliou Alassane Ngaidé, Momar Dioum, Serigne Abdou Ba
BACKGROUND: Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. CASE PRESENTATION: Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage...
July 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28689684/-ectopic-thymus-a-rare-cause-of-neck-mass-in-children
#10
S Kallel, M Mnejja, M Kessentini, A Ben Said, I Charfeddine, B Hammami, A Ghorbel
INTRODUCTION: Ectopic cervical thymus (ECT) is a rare embryological abnormality in children. It can be revealed by a compressive neck mass mistaken for a malignant tumor. Through a new case of ECT, we review the embryopathogenesis, diagnostic difficulties and therapeutic features. CLINICAL OBSERVATION: A 19-month-old girl presented a right cervical mass that quickly increased in size, causing intermittent dyspnea. The physical examination objectified a 6-cm, soft and compressible, painless right cervical tumefaction, extending from the mastoid area to the ipsilateral supraclavicular fossa...
July 6, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28688135/-lying-down-adrenal-sign-there-are-exceptions-to-the-rule-among-fetuses-and-neonates
#11
Anand Majmudar, Harris L Cohen
A linear-shaped or "lying-down" adrenal gland is a sign often seen with the absence of the kidney in the renal fossa due to renal agenesis, renal ectopia, or horseshoe kidney. It is theorized that the presence of the kidney in the normal location within the renal fossa is important for the formation of the normal triangular inverted V or Y adrenal shape. There are exceptions to this rule whereby a kidney is missing from the renal fossa, yet a normal adrenal shape is present. This series looked at 18 cases of an empty renal fossa in fetal, neonatal, and pediatric patients and recorded the shape of the adrenal gland...
July 8, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28673264/distribution-of-axial-length-in-chinese-congenital-ectopia-lentis-patients-a-retrospective-study
#12
Yichi Zhang, Guangming Jin, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Su Ern Poh, Charlotte Aimee Young, Danying Zheng
BACKGROUND: Congenital ectopia lentis (CEL) usually leads to refractive error and may influence the axial length development. But few investigations have reported patient demographics and the distribution of axial length (AL) before surgery in Chinese pediatric patients with CEL. To describe the distribution of AL before surgery in CEL patients and its relationship with patients' demographics, such as age, Marfan syndrome, sex, and laterality. METHODS: This retrospective study reviewed 306 CEL patients from January 1, 2006 to December 31, 2015...
July 3, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28666510/homocystinuria-hc-and-neurofibromatosis-type-1-nf-1-an-unusual-presentation-in-a-child
#13
Muhammad Amer Yaqub, Muhammad Saim Khan, Asad Habib
Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28666504/pregnancy-in-a-treated-case-of-ectopia-vesicae
#14
Fazeela Shahzad, Shazia Khalid Khan, Madiha Siraj
The patient was born with bladder exstrophy and underwent multiple surgeries for its correction. Finally, she had ureterosigmoidostomy at the age of 9 years, which ultimately led her to live till reproductive age. The children born with this defect are capable of surviving till adult life. She was received by us with preterm labour, referred from Hafizabad. She also had hyperchloremic metabolic acidosis and mild hydronephrosis. She was managed with multidisciplinary, modified care but the pregnancy ended up in an emergency cesarean section due to non-reactive cardiotocograph and persistently reduced fetal movements...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28666341/duox2-mutations-are-associated-with-congenital-hypothyroidism-with-ectopic-thyroid-gland
#15
Marina M L Kizys, Ruy A Louzada, Miguel Mitne-Neto, Jessica R Jara, Gilberto K Furuzawa, Denise P de Carvalho, Magnus R Dias-da-Silva, Suzana Nesi-França, Corinne Dupuy, Rui M B Maciel
Context: Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in about approximately 90% of cases, the most frequent form being thyroid ectopia (TE; 48-61%). Objective: To search for new candidate genes in hypothyroid children with TE. Design/Setting/Participants: We followed a cohort of 268 TD children and performed whole-exome sequencing (WES) in three children with CH with TE (CHTE) and compared them with 18 thyroid-healthy controls...
June 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28645010/a-rare-case-of-male-pseudohermaphroditism-persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-case-report-and-review-of-literature
#16
Aashish Rajesh, Mohammed Farooq
INTRODUCTION: Persistent Mullerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism. Transverse testicular ectopia (TTE) is characterized by one testis moving to the opposite side and both testes traversing the same inguinal canal. CASE PRESENTATION: An 11-month-old boy presented with bilateral cryptorchidism. The left testis was not palpable; the right testis was canalicular with a right inguinal hernia. Ultrasound showed both testes located in the right inguinal canal...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28642162/ngs-panel-analysis-in-24-ectopia-lentis-patients-a-clinically-relevant-test-with-a-high-diagnostic-yield
#17
E Overwater, K Floor, D van Beek, K de Boer, T van Dijk, Y Hilhorst-Hofstee, A J M Hoogeboom, K J van Kaam, J M van de Kamp, M Kempers, I P C Krapels, H Y Kroes, B Loeys, S Salemink, C T R M Stumpel, V J M Verhoeven, E Wijnands-van den Berg, J M Cobben, J P van Tintelen, M M Weiss, A C Houweling, A Maugeri
BACKGROUND: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relatives. Next generation sequencing (NGS) is a powerful tool enabling the simultaneous, highly-sensitive analysis of multiple target genes. OBJECTIVE: The aim of this study was to evaluate the diagnostic yield of our NGS panel in EL patients...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600386/associations-of-age-and-sex-with-marfan-phenotype-the-national-heart-lung-and-blood-institute-gentac-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-registry
#18
Mary J Roman, Richard B Devereux, Liliana R Preiss, Federico M Asch, Kim A Eagle, Kathryn W Holmes, Scott A LeMaire, Cheryl L Maslen, Dianna M Milewicz, Shaine A Morris, Siddharth K Prakash, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Howard K Song, Jonathan W Weinsaft
BACKGROUND: The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults. METHODS AND RESULTS: We evaluated 789 Marfan patients enrolled in the National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (53% male; mean age 31 [range: 1-86 years]). Females aged ≥15 and males aged ≥16 years were considered adults based on average age of skeletal maturity...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28591285/iris-claw-intraocular-lens-implantation-in-children-with-ectopia-lentis
#19
Sadık Görkem Çevik, Muhammer Özgür Çevik, Ahmet Tuncer Özmen
Purpose: Artisan iris-claw lens implantation (AICLI) is a surgical technique for treating ectopia lentis. We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without a diagnosable hereditary disease. Methods: Seventeen children with non-traumatic ectopia lentis were retros pectively classified into two groups: group 1 included children with a diagnosable hereditary disease (11 patients, 65%), and group 2 included children without any definable hereditary disease (six patients, 35%)...
March 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#20
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
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