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https://www.readbyqxmd.com/read/28724353/marfan-syndrome-and-cardiovascular-complications-results-of-a-family-investigation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
June 15, 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28579717/thoracic-ectopia-cordis-in-an-ethiopian-neonate
#13
Henok Tadele, Abeje Chanie
BACKGROUND: Ectopia Cordis is defined as complete or partial displacement of the heart outside the thoracic cavity. It is a rare congenital defect with failure of fusion of the sternum with extra thoracic location of the heart. The estimated prevalence of this case is 5.5 to 7.9 per million live births. CASE PRESENTATION: We had a case of a 16-hour-old male neonate weighing 2.9kg with externally visible, beating heart over the chest wall. Initial treatment included covering the heart with sterile-saline soaked dressing, starting systemic antibiotics and supportive care...
March 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28542028/bilateral-optic-disc-pits-with-posterior-pituitary-ectopia
#14
Jonathan C Horton, A James Barkovich
Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association...
May 22, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#15
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28516323/diffusion-tensor-imaging-findings-of-the-brainstem-in-subjects-with-tonsillar-ectopia
#16
Serpil Kurtcan, Alpay Alkan, Huseyin Yetis, Umit Tuzun, Ayse Aralasmak, Huseyin Toprak, Huseyin Ozdemir
We aimed to evaluate the differences between apparent diffusion coefficient (ADC), fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) values obtained from different cranial sites in subjects with Chiari I Malformation (CM-I) and borderline tonsillar ectopia (BTE), and to determine correlations between diffusion tensor imaging (DTI) metrics and the severity of tonsillar ectopia. A total of 73 subjects with CM-I and BTE and 35 control underwent MRI and DTI. In our study, ADC values measured from the level of medulla oblongata and the RD values measured in middle cerebellar peduncles, thalamus, and globus pallidus were higher in CM-I patients than in controls...
May 17, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28503337/complete-ectopia-cordis-a-case-report-and-literature-review
#17
Simon Pius, Halima Abubakar Ibrahim, Mustapha Bello, Mohammed Bashir Tahir
Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al. in 1706; since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 3 days of life and survived for seven days, even though most literatures state that majority died within four days even with surgery...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28491454/crossed-fused-renal-ectopia-in-a-persian-cat
#18
Sang-Hyuk Seo, Hyun-A Lee, Sang-Il Suh, Ran Choi, In-Chul Park, Changbaig Hyun
CASE SUMMARY: This report describes a rare case of crossed fused renal ectopia (CFRE) in a cat. A mature intact male Persian cat presented with bloody nasal discharge and ascites. Diagnostic studies revealed an ectopic left kidney fused with an orthotopic right kidney and a concurrent feline infectious peritonitis (FIP) infection. The FIP was responsible for clinical signs in this cat, while clinical signs associated with CFRE were not obvious. Despite receiving intensive treatment, the cat died...
January 2017: JFMS open reports
https://www.readbyqxmd.com/read/28486048/endometriosis-origin-from-primordial-germ-cells
#19
Zograb Makiyan
Endometriosis is defined by the presence of endometrial ectopia. Multiple hypotheses have been postulated to explain the etiology of endometriosis to understand various clinical evidences. The etiology of endometriosis is still unclear.The primary question to understanding the etiology of endometrial ectopia (endometriosis) is determining the origin of eutopic (normally cited) endometrium.According to the new theory, primordial germ cells migrate from hypoblast (yolk sac close to the allantois) to the gonadal ridges...
May 9, 2017: Organogenesis
https://www.readbyqxmd.com/read/28454459/expression-of-cxcl12-and-its-receptor-cxcr4-in-patients-with-adenomyosis
#20
Juan Li, Geping Yin, Ming Chen, Shujun Yang, Aifang Wu, Jing Liang, Zheng Yuan
The aim of the present study was to investigate the role of chemokine (C-X-C motif) ligand 12 (CXCL12) and its receptor, chemokine (C-X-C motif) receptor 4 (CXCR4) in the pathogenesis of adenomyosis (AD). Immunohistochemistry and reverse transcription-quantitative polymerase chain reaction analysis were used to measure the protein and mRNA expression of CXCL12 and CXCR4 in eutopic endometrial and ectopic foci tissue samples. Samples from a total of 36 patients with AD (study group) were compared with endometrial tissue samples from 33 patients who underwent uterine fibroids surgery (control group) during the same period...
April 2017: Oncology Letters
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