scholarly journals Persistent Notochord in a Fetus with COL2A1 Mutation

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Elisabeth Codsi ◽  
Brian C. Brost ◽  
Arij Faksh ◽  
Amber K. Volk ◽  
Kristi S. Borowski
Keyword(s):  
Case Report ◽  
Second Trimester ◽  
First Case ◽  
Col2a1 Mutation

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with aCOL2A1mutation. To our knowledge, this represents the first case of a persistent notochord associated with aCOL2A1mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

scholarly journals Dorsolumbosacral agenesis: Case report and literature review

2021 ◽  
Vol 12 (2) ◽  
Author(s):  
Andrés Mauricio Camacho Montaño ◽  
Reinaldo Child Alba Reinaldo ◽  
María Camila Cetina Grajales
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
Perinatal Death ◽  
Severe Form ◽  
Second Trimester ◽  
Review Of The Literature ◽  
The Third ◽  
First Case ◽  
Made In

Objetives: To report a case of dorsolumbosacral agenesis and to make a systematic review of the literature focused on prenatal diagnosis. Materials and methods: We report a case of a 32year old pregnant woman, with a 30 week pregnanacy, without prenatal care, the fetus is diagnosed with dorsolumbosacral agenesis. The mother request voluntary termination of pregnancy. A systematic review of the literature focused on prenatal diagnosis of thos condiction is performed. Results: We found 50 papers, 6 met the inclusión critiria. Three of them with prenatal diagnosis. In the first case the diagnosis was made at 13 weeks of gestation and termination of preganancy was requested. In the second case corresponded an biamniotic bicorial twin preganancy. One normal feto and one presented dorsolumbosacral agenesis. The diagnosis was made in the second trimester. The pregnancy continued until 34 week of gestation and the affected neonate had perinatal death. The third case, the diagnosis was made at 18 weeks and a male newborn of 2990gr was born at 37 weeks of gestation. Conclusion: Dorsolumbosacral agenesis is a very severe form of caudal regresión syndrome, with only a few cases reportted in the literature. To the best of our knowladge this is the fourth case reported with prenatal diagnosis.

Prenatal diagnosis of congenital mirror foot: case report and review

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Gabriella Norwitz ◽  
Frances Farley ◽  
Deborah Rose Berman
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Early Diagnosis ◽  
Congenital Anomalies ◽  
Second Trimester ◽  
Rare Form ◽  
First Case ◽  
Mirror Foot ◽  
Tarsal Bones ◽  
The Family

Abstract Polydactyly refers to a group of congenital anomalies characterized by the presence of more than five fingers or toes per extremity. Mirror foot is an extreme and rare form of foot polydactyly characterized by the presence of extra tarsal bones and digits and is most often an isolated finding recognized at birth. Here, we report the first case of mirror foot diagnosed prenatally at the time of routine second trimester ultrasound. This early diagnosis allowed for thorough counseling that provided the family adequate time to process the diagnosis and prepare for neonatal management.

The first case report of Pembrolizumab inducing thyroiditis and hypophysitis

2020 ◽  
Author(s):  
Rahman Maraqa Sima Abdel ◽  
Robert McMahon ◽  
Anusha Pinjala ◽  
Gastelum Alheli Arce ◽  
Mohsen Zena
Keyword(s):  
Case Report ◽  
First Case

Harel-Yoon syndrome: the first case report from Saudi Arabia

2020 ◽  
pp. 22-27 ◽  
Author(s):  
Alaa AlAyed ◽  
Manar Samman ◽  
Abdul Peer-Zada ◽  
Mohammed Almannai
Keyword(s):  
Saudi Arabia ◽  
Case Report ◽  
First Case

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals A Rare Coincidence—a Second Trimester Ectopic Pregnancy Following Early Medical Abortion: a Case Report

2021 ◽  
Vol 3 (1) ◽  
pp. 363-366
Author(s):  
Claire M. McCarthy ◽  
D. Hayes-Ryan ◽  
C. Harrity ◽  
J. Hogan ◽  
R. Roopnarinesingh ◽  
...  
Keyword(s):  
Case Report ◽  
Ectopic Pregnancy ◽  
Medical Abortion ◽  
Second Trimester
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