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Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts
Coelette Smit,
Kurt-Wilhelm Bütow,
Sharan Naidoo,
Steve Olorunju
Issue:
Volume 3, Issue 3, September 2019
Pages:
58-65
Received:
13 May 2019
Accepted:
18 June 2019
Published:
23 July 2019
Abstract: Context: The concept “epigenetics” highlights that environmental factors are able to trigger changes in gene activity. This confounds the search for aetiological factors of syndromic oro-facial clefts as it interplays between genetics and environmental stimulation. Subjects and Methods: The study makes use of a database of syndromic cleft patients over 33 years at the Department of Maxillo-Facial and Oral Surgery at the University of Pretoria. The ten most common clefting syndromes (Fairbairn-Robin triad, Demarque van der Woude syndrome, Holoprosencephaly, Naso-maxillo-acro dysostosis (Binder’s syndrome), Goldenhar syndrome, Treacher-Collins syndrome, Trisomy 13 (Patau’s syndrome), P63 Mutation associated clefting disorders, Trisomy 21 (Down’s syndrome), Oro-Facial Digital syndromes) were included amounting to 517 patients. The nine most common maternal risk factors (Unknown Infection, Viral Infection, HIV, Medication, Smoking, Alcohol, Oligohydramnios, Vitamins, Hormones) were included totaling 398. Results: Fairbairn-Robin triad had a significant correlation with oligohydramnios, infection and medication. Demarque-van der Woude syndrome presented with a significant contribution from medication and Holoprosencephaly showed a significant correlation with vitamin supplementation. Conclusion: based on the results of this study Fairbairn-Robin triad appears to have a strong environmental component to the presentation thereof. Demarque-van der Woude was indicated to having a genetic-environmental interplay contributing to the presentation of the syndrome.
Abstract: Context: The concept “epigenetics” highlights that environmental factors are able to trigger changes in gene activity. This confounds the search for aetiological factors of syndromic oro-facial clefts as it interplays between genetics and environmental stimulation. Subjects and Methods: The study makes use of a database of syndromic cleft patients ...
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A Case of Cauda Equina Arachnoiditis Ossificans and Review the Literature
Luo Jianxian,
Yang Yuhao,
Lin Hongsheng
Issue:
Volume 3, Issue 3, September 2019
Pages:
66-68
Received:
9 June 2019
Accepted:
15 July 2019
Published:
30 July 2019
Abstract: Arachnoiditis ossificans is a rare, chronic and progressive disease, especially cauda equina. Most of its causes are due to severe trauma or sequelae after spinal surgery, generally gradual calcification from the initial adhesive arachnoiditis to the end stage of ossified arachnoiditis. At present, the treatment of this rare disease standard is difficult to determine, and the clinical outcomes of conservative and surgical treatment options remain controversial. We present a 26-year-old female patient who was postoperative lumbar surgery for trauma, plain and reconstructive X-ray, CT and MRI images showed an ossified lesion within the master at the L5-S1 levels and compression of the left spinal canal at L4/5 level. We explored and decompressed spinal canal and released root nerves, while the calcified cauda equina nerve was not treated. Postoperative supportive treatment including detumescence, anti-inflammation, nutritional nerve and analgesia, the postoperative clinical course of the patient was good and the patient was very satisfied with the curative effect. This case, along with a review of literature is reported.
Abstract: Arachnoiditis ossificans is a rare, chronic and progressive disease, especially cauda equina. Most of its causes are due to severe trauma or sequelae after spinal surgery, generally gradual calcification from the initial adhesive arachnoiditis to the end stage of ossified arachnoiditis. At present, the treatment of this rare disease standard is dif...
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Intracerebral Hemorrhages Secondary to Reversible Cerebral Vasoconstriction Syndrome: Case Report and Literature Review
François Dantas,
Eustáquio Claret dos Santos Júnior,
Tiago Silva e Carvalho,
Róberti Uili Rodrigues Firmino,
Rômulo Tscherbakowski Nunes de Guimarães Mourão,
Mariana Couy Fonseca,
Fernando Luiz Rolemberg Dantas,
Ricardo Vieira Botelho,
Rogério Zenóbio Darwich
Issue:
Volume 3, Issue 3, September 2019
Pages:
69-73
Received:
10 June 2019
Accepted:
22 July 2019
Published:
12 August 2019
Abstract: Reversible cerebral vasoconstriction syndrome is an unusual entity, characterized by recurrent thunderclap headache and segmental narrowing of the cerebral arteries, typically with remission within three months. It has been described since the 1960s with several names, including Call-Fleming syndrome. More than 500 cases have been described in the literature, yet the pathophysiology remains not well understood. Ischemic or hemorrhagic strokes are the major possible complications of the syndrome, leading to permanent neurological deficits or death in a small percentage of patients. We report a case of a 48-year-old female patient without known risk factors that presented two foci of intracerebral hemorrhages, with hemiparesis ipsilateral to the biggest intracerebral lesion. Magnetic resonance imaging tractography revealed normal pyramidal decussation, and the patient evolved with completely recover of the neurological deficit within a week. The authors believe that in the present case neurological deficit may be related to contralateral narrowing of the cerebral arteries and diffuse impairment of the central nervous system instead of intracerebral hemorrhage itself. RCVS is a rare condition that should be considered in patients with recurrent thunderclap type headache. Further prospective and randomized studies are still necessary to improve the management and treatment of patients with the syndrome.
Abstract: Reversible cerebral vasoconstriction syndrome is an unusual entity, characterized by recurrent thunderclap headache and segmental narrowing of the cerebral arteries, typically with remission within three months. It has been described since the 1960s with several names, including Call-Fleming syndrome. More than 500 cases have been described in the ...
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