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https://www.readbyqxmd.com/read/29215096/exome-sequencing-revealed-a-novel-nonsense-variant-in-alx3-gene-underlying-frontorhiny
#1
Asmat Ullah, Muhammad Umair, Umm E-Kalsoom, Shaheen Shahzad, Sulman Basit, Wasim Ahmad
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Sequence variants in the Aristaless-like homeobox 3 (ALX3) gene underlying frontorhiny have been reported previously. Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29211701/new-grading-system-for-limbal-dermoid-a-retrospective-analysis-of-261-cases-over-a-10-year-period
#2
Jing Zhong, Yuqing Deng, Ping Zhang, Saiqun Li, Haixiang Huang, Bowen Wang, Henan Zhang, Lulu Peng, Ruhui Yang, Jiangang Xu, Jin Yuan
PURPOSE: To establish a new scoring system for limbal dermoid, in order to unify the diagnostic criteria and assess the prognosis. METHODS: A retrospective study was conducted on 261 patients with limbal dermoid. The basic information, clinical features, and pathology of dermoids were recorded, and the prognosis at 1 year after keratoplasty was assessed at follow-up. A new visual scoring system was created for the area of corneal involvement, the area of conjunctival involvement, and the surface shape...
January 2018: Cornea
https://www.readbyqxmd.com/read/29198174/intracranial-complications-of-midline-nasal-dermoid-cysts
#3
Dries Opsomer, Toon Allaeys, Ann-Sofie Alderweireldt, Edward Baert, Nathalie Roche
BACKGROUND: Nasal dermoid cysts are common tumors in children. Due to anomalies in embryologic development of the nasal complex, sometimes an intracranial extension exists. When these cysts become infected they can lead to meningitis, brain abscess and death. METHODS: We report the case of a 1.5-year-old girl admitted to the paediatric intensive care unit after infection of a nasal dermoid cyst. RESULTS: The infant had a spiking fever and epileptic seizures...
December 4, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29185056/intramedullary-holocord-abscess-secondary-to-infected-dermoid-cyst
#4
Dorota Tassigny, Edward Fomekong, Guus Koerts, Christian Raftopoulos
In the literature, less than ten cases of holocord intramedullary abscess in children have been described. A 15-month-old girl presented with flaccid paraplegia and dermal sinus in the sacral region. MRI highlighted an infected lumbar dermoid cyst. The child underwent surgery to remove the cyst and purulent collection. Five days after surgery, she developed upper limbs paresis. An MRI showed a holocord abscess. A catheter was inserted through a cervical myelotomy into the abscess for drainage with a good postoperative recovery...
November 28, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29151533/acute-urinary-retention-induced-by-chemical-meningitis-which-occurred-due-to-a-ruptured-dermoid-cyst
#5
Keiko Yamagami, Naoko Kakuta, Kaori Seki, Ryota Nakamura, Yusuke Hanioka, Tomoyuki Nakamura, Hitoshi Goto
Meningitis retention syndrome (MRS), a rare complication of aseptic meningitis, can present with acute urinary retention. The rupture of a dermoid cyst, which is a benign intracranial tumor, can sometimes induce chemical meningitis. We herein present a case of chemical meningitis and acute urinary retention that was induced by the rupture of a dermoid cyst. The patient experienced urinary retention for approximately 60 days, and then made a complete recovery thereafter. This is the first reported case of acute urinary retention due to the rupture of a dermoid cyst...
November 20, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29142453/ectopic-ovary-with-dermoid-cyst-as-a-result-of-possible-asymptomatic-autoamputation
#6
Bimal Mathew John
A 32-year-old woman, who presented for laparoscopic sterilization after two full-term normal deliveries, was incidentally diagnosed to have a left-sided complex cyst in the pouch of Douglas (POD). She had no history of previous surgeries or any symptoms of lower abdominal pain, nausea, or vomiting in the past. She underwent laparoscopy, and the left ovary and distal portion of the fallopian tube were absent in their normal position. An ectopic left ovary with dermoid cyst was noted in the POD. The right ovary and tube were in their normal position...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#7
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
November 13, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29118876/large-dermoid-cyst-presenting-as-recurrent-pancreatitis
#8
Emmanuel Ofori, Daryl Ramai, Denzil Etienne, Madhavi Reddy, Ghulamullah Shahzad
Pancreatic dermoid cysts are rare and benign congenital abnormalities of germ cell origin. They occur equally in males and females without age predilection. Though radiographic imaging aids in the diagnosis, most times they are inconclusive and require fine-needle aspiration cytology for confirmation. We report the first case of a dermoid cyst presenting as recurrent pancreatitis in a 49-year-old male. Computed tomography scan, followed by magnetic resonance imaging, showed a complex cystic mass lesion adjacent to the pancreatic tail...
October 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/29107796/periorbital-lesions-misdiagnosed-as-dermoid-cysts
#9
Ahmed Al-Muhaylib, Hind M Alkatan, Yasser H Al-Faky, Adel H Alsuhaibani
Several periorbital lesions can be clinically misdiagnosed as dermoid cyst. We retrospectively reviewed the histopathological findings for 97 biopsied periorbital lesions with a clinical diagnosis of dermoid cyst from January 2006 to July 2016 at a single center and identified 5 cases that were eventually found to have been misdiagnosed. The main presenting symptom was a long-standing mobile painless mass with intact overlying skin below the medial aspect of the brow in 4 patients and below the center of the brow in 1 patient...
December 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29089678/an-extremely-rare-case-of-dermoid-cyst-of-urinary-bladder
#10
Chirag Jain, Mahesh K Mittal, Fouzia Shiraz
We report an extremely rare case of a dermoid cyst of the urinary bladder in a 30-year-old female who presented with pain in the left flank and dysuria since 9 months. On imaging (ultrasound and computed tomography), a relatively well-defined mass lesion with areas of fat and calcification was seen arising from the bladder wall. Cystoscopy showed presence of hair on the surface of the lesion. Histopathological findings were consistent with dermoid cyst in the urinary bladder.
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29068832/infected-nasal-dermoid-cyst-sinus-tract-presenting-with-bilateral-subperiosteal-supraorbital-abscesses-the-midline-nasal-tuft-of-hair-an-overlooked-finding
#11
Coby N Ray, Bryce C Betteridge, Joshua C Demke
This case is, to the authors' knowledge, the first reported case in the literature of bilateral orbital abscesses as result of an infected nasal dermoid. The baby presented with what proved to be bilateral supraorbital subperiosteal abscesses with associated frontal osteitis/osteomyelitis and soft tissue infection of the glabella. Methicillin-sensitive staphylococcus aureus infection was found in the setting of a midline nasal dermoid with tuft of hair and infected sinus tract that was at least initially missed on diagnosis...
October 24, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29049678/limbal-dermoid-in-a-teenage-boy
#12
Sonam Yangzes, Parul Chawla Gupta, Jagat Ram
No abstract text is available yet for this article.
October 12, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29040677/navigation-linked-heads-up-display-in-intracranial-surgery-early-experience
#13
Justin R Mascitelli, Leslie Schlachter, Alexander G Chartrain, Holly Oemke, Jeffrey Gilligan, Anthony B Costa, Raj K Shrivastava, Joshua B Bederson
BACKGROUND: The use of intraoperative navigation during microscope cases can be limited when attention needs to be divided between the operative field and the navigation screens. Heads-up display (HUD), also referred to as augmented reality, permits visualization of navigation information during surgery workflow. OBJECTIVE: To detail our initial experience with HUD. METHODS: We retrospectively reviewed patients who underwent HUD-assisted surgery from April 2016 through April 2017...
October 10, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29037561/repeated-pregnancy-with-concomitant-presence-of-ovarian-teratoma-a-case-report-and-literature-review
#14
Liang-Hsuan Chen, Shuenn-Dhy Chang, Hong-Yuan Huang, Hsin-Shih Wang, Yung-Kuei Soong, Hsien-Ming Wu
OBJECTIVE: Benign mature teratoma during pregnancy is common, mostly discovered incidentally by antenatal sonography. However, repeated pregnancy coincident with ovarian mature teratoma is rarely reported. The cases of teratoma with rapid growing characteristics are even more unique. CASE REPORT: A 17-year-old woman was pregnant at 6 weeks of gestation with a left ovarian teratoma. She underwent artificial abortion followed by surgical removal of the teratoma. However, eleven years after the surgery, a right ovarian teratoma was found incidentally by antepartum sonography at 21 weeks of gestation...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29032828/-a-hair-growing-on-the-eye-limbal-dermoid
#15
A Mahmoud, R Messaoud, F Abid, M Bouzayane
No abstract text is available yet for this article.
November 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29021964/torsion-of-ovarian-dermoid-cyst-mimicking-obstructing-urinary-tract-stone
#16
Hoi Lung Wong, Victor Hip Wo Yeung, Sau Kwan Chu, Chi Wai Man
No abstract text is available yet for this article.
January 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29019822/endocervical-polyp-with-florid-epidermal-metaplasia-report-of-a-previously-undescribed-phenomenon-from-a-dermatopathologic-view-is-it-an-epidermal-inclusion-cyst-or-a-dermoid-cyst
#17
Tien Anh N Tran
No abstract text is available yet for this article.
November 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29019747/masses-of-the-nose-nasal-cavity-and-nasopharynx-in-children
#18
Diana P Rodriguez, Emily S Orscheln, Bernadette L Koch
A wide range of masses develop in the nose, nasal cavity, and nasopharynx in children. These lesions may arise from the nasal ala or other structures of the nose, including the mucosa covering any surface of the nasal cavity, the cartilaginous or osseous portion of the nasal septum, the nasal turbinates, and the nasal bones. Lesions may also arise from the nasopharynx or adjacent structures and involve the nose by way of direct extension. The causes of nasal masses in children include congenital and developmental disorders such as congenital nasolacrimal duct mucocele, dermoid cyst, cephalocele, and nasal neuroglial heterotopia; inflammatory and infectious processes such as mucocele, polyp, and pyogenic granuloma; benign neoplasms such as infantile hemangioma and juvenile nasopharyngeal angiofibroma; malignant lesions such as rhabdomyosarcoma and nasopharyngeal carcinoma; and masses related to prior trauma such as septal hematoma...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28991502/sensitivity-of-computed-tomography-for-the-assessment-of-spontaneous-dermoid-cyst-localized-rupture-with-granulomatous-reaction
#19
Alicia Galindo-Ferreiro, Sahar M Elkhamary, Saif Aldossari, Patricia M Akaishi, Hind Alkatan, Rajiv Khandekar, Denny Marcos Garcia, Yerena Muiños-Diaz, Silvana A Schellini, A Augusto V Cruz
PURPOSE: To assess the sensitivity of computed tomography for the diagnosis of spontaneous localized orbital dermoid cyst rupture with granulomatous reaction. METHODS: The charts of 42 patients with dermoid cysts were reviewed retrospectively. The data collected included demographics, clinical features, CT imaging, and postoperative histopathological analysis of the lesions. The association between radiological signs of inflammation and histopathological evidence of an inflammatory reaction was tested by univariate logistic regression...
October 9, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28991352/optical-coherence-tomography-assisted-limbal-dermoid-removal
#20
Jacob A Evans, Ashley Ko, Scott A Larson
This report and accompanying video show the novel use of intraoperative optical coherence tomography (OCT) in the excision of a limbal dermoid. Examining for residual opaque tissue in the cornea accompanied by OCT imaging is a useful technique to confirm complete excision of the lesion. [J Pediatr Ophthalmol Strabismus. 2017;54:e58-e59.].
October 9, 2017: Journal of Pediatric Ophthalmology and Strabismus
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