present MemberAlpha Omega Alpha Medical Honor Society 2010 - present MemberAmerican Medical Association Publications [mayoclinic.org]

However, if the patient presents later in life, the presentation may not be similar to that seen in childhood, and management changes accordingly. [karger.com]

It usually presents with intractable focal epilepsy and cognitive defects in children. [ncbi.nlm.nih.gov]

Syndactyly, as described by Apert, [6], [7] was also present. [jiaomr.in]

[…] illness can also present itself among male patients. [medicinescience.org]

• Epilepsy

  In a study of 121 patients with facial nevi affecting the skin in the distribution of the trigeminal nerve, Bioxeda et al concluded that only those persons with V1 involvement were at risk for epilepsy or glaucoma. [emedicine.medscape.com]

  A series of studies with MRI volumetry in adults with partial epilepsy. Prog Brain Res 2002;135:279-295. [karger.com]

  Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome. J Child Neurol. 20(8): 678—682. http://dx.doi.org/10.1177/08830738050200080901 ; PMid:16225815 30. Lee JS, Asano E, Muzik O et al. 2001. [med-expert.com.ua]

  To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5. Surgical pressure management is also sometimes needed 5. [radiopaedia.org]

  A good example is Jean Aicardi, whose name is associated with a particular type of neonatal epilepsy ( 3 ), a syndrome in girls characterized by agenesis of the corpus callosum, cortical dysplasia, and retinal abnormalities ( 4 ), and the white matter [ajnr.org]

• Nail Abnormality

  She was also noted to have thin hair and nail abnormalities. The author suggested that her features were consistent with ectodermal dysplasia and that her condition was slowly progressive in nature. No karyotype was reported for this patient. [jmg.bmj.com]

• HELLP Syndrome

  Dexamethasone in the postpartum treatment of HELLP syndrome. Int J Gynaecol Obstet 1997;59:217-221. Yalcin OT, SEner T, Hassa H, Ozalp S, Okur A. Effects of postpartum corticosteroids in patients with HELLP syndrome. [medigraphic.com]

  The HELLP Syndrome (hemolysis, elevated liver enzymes, and low platelets): 27. Crane JMG, Tabarsi B, Hutchens D. The maternal benefits of corticosteroids with HELLP syndrome. J Obstet Gynaecol Can 2003; 25: 650-5 28. [preeclampsia.it]

• Malnutrition

  Osteoarthritis Spondylolisthesis Obesity Smoking Malnutrition Lack of physical exercise or daily activity Pathophysiology [ edit ] 55% of facet syndrome cases occur in cervical vertebrae, and 31% in lumbar. [en.wikipedia.org]

• Mild Clinical Course

  In contrast to the mild clinical course, a severe and progressive neurodegenerative process was shown in the central nervous system on neuroimaging. [ajnr.org]

• Abdominal Pain

  He was admitted to our hospital due to abdominal pain and vomiting. An ultrasound examination demonstrated intussusception of the small intestine. [ci.nii.ac.jp]

• Lacrimation

  Other Ectodermal Dysplasia Types Ackerman Syndrome Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes Acto-Dermato-Ungual-Lacrimal-Tooth Syndrome Ameloonychohypohidrotic Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate [nfed.org]

  Waardenburg, who described a syndrome comprising of six distinctive features: lateral displacement of the medial canthi and lacrimal punctae, broad and high nasal root, hypertrichosis of medial part of the eyebrows, partial or total heterochromia iridis [ijdvl.com]

• Arthralgia

  Arthralgia and digital clubbing in a child: hypertrophic osteoarthropathy with inflammatory pseudotumour of the lung. Scand J Rheumatol. 2004;33:189-91. Seggewiss R, Hess T, Fiehn C. [rarediseases.org]

• Alopecia

  Odonoonychodermal Dysplasia Ondontomicronychial Dysplasia Onychotrichodysplasia and Neutropenia Pachyonychia Congenita 1 Pachyonychia Congenita 2 Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Polyposis, Skin Pigmentation, Alopecia [nfed.org]

• Psychiatric Manifestation

  Sensory loss and psychiatric manifestations like schizophrenia had been reported rarely.[ 2, 3 ] The typical radiological features are cerebral hemiatrophy with ipsilateral compensatory hypertrophy of the skull and sinuses. [ncbi.nlm.nih.gov]

• Fear

  Negative consequences from heavy social networking in adolescents: The mediating role of fear of missing out. Journal of Adolescence, 55, 51-60. Schiebener, J. & Brand, M. (2017). [uni-due.de]

• Psychiatric Symptoms

  Watching pornographic pictures on the Internet: Role of sexual arousal ratings and psychological-psychiatric symptoms for using Internet sex sites excessively. Cyberpsychology, Behavior and Social Networking, 17, 371-377. [uni-due.de]

• Large Anterior Fontanels

  Features noted at birth included neck oedema, a large anterior fontanelle (6 cm × 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. [jmg.bmj.com]

• Neglect

  In this case the patient has neglected the medical advice for the status post-amniocentesis. We had negative cell cultures in 2 cases (0.86%). [tmj.ro]

  According to expert opinion, toxic-shock-syndrome is such a rare complication, that it can be neglected in the preoperative consent [122]. [egms.de]

  Does the age of patient neglect the other factors influencing outcome of nerve grafting. [ewb.rs]

  Overuse or neglect of cybersex cues in a multitasking situation is related to symptoms of cybersex addiction. Journal of Behavioral Addictions, 4, 14-21. Snagowski, J. & Brand, M. (2015). [uni-due.de]

• Amnesia

  Functional retrograde amnesia: A multi case study. Cortex, 44, 29-45. Kalbe, E., Brand, M., Thiel, A., Kessler, J., & Markowitsch, H.J. (2008). [uni-due.de]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Focal phototherapeutic keratectomy was effective and safe for the treatment of this complication. [200.98.68.239]

In case of long-time prednisone treatment, hydrocortisone should be given before anesthesia (twice usual dose). [accessanesthesiology.mhmedical.com]

We microbiologists would like to be able to produce results in a matter of hours, in order to speed up the diagnosis and begin targeted treatment as soon as possible. [diagnostics.sener]

Acute fatty liver of pregnancy: diagnosis, treatment, and outcome based on 35 consecutive cases. J Matern Fetal Neonatal Med 2011;24:1143-1146. Vigil-De Gracia, Ortega-Paz L. [medigraphic.com]

Prognosis - Sener syndrome Not supplied. Treatment - Sener syndrome Not supplied. Resources - Sener syndrome Not supplied. [checkorphan.org]

Prognosis The prognosis of BSD depends on the cause and extent of the disruptive lesion or the impact of the abnormal developmental process involving the BS. [moebiussyndrome.info]

Treatment and prognosis Disease progression is variable in the cases reported in the literature. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5. [radiopaedia.org]

Prognosis is influenced by the occurrence of intussusception and malignant tumors associated with Peutz-Jeghers syndrome. Therefore, long-term careful follow-up is important. [ci.nii.ac.jp]

Prognosis is better if the onset of hemiparesis is after 2 years of age and in absence of prolonged or recurrent seizure.[ 9 ] Hemispherectomy is the treatment of choice for children with intractable disabling seizures and hemiplegia with a success rate [ncbi.nlm.nih.gov]

However, the underlying etiologies remain unknown in most of the cases and are yet to be elucidated. [bmcophthalmol.biomedcentral.com]

Congenital Cranial Dysinnervation Disorders Effect of Visual Acuity on the Surgical Outcomes of Secondary Sensory Strabismus Etiology of Fourth and Sixth Nerve Palsies: a Single Ophthalmology Clinic’s Perspective Strabismus Surgery in Congenital Fibrosis [cumhursener.com]

The most important signs of inelastic tendon etiology include positive forced duction that is worse with retropulsion, intorsion in upgaze, and negative forced duction after transecting the superior oblique tendon. [emedicine.medscape.com]

The capacity to make etiological diagnoses and sensitivity studies that are quicker than the current conventional ones would have a significant clinical impact on the patient: We would find the ideal treatment immediately. [diagnostics.sener]

In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. [scielo.br]

Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. Genet Test 3(4):335-40, 1999. 31 12. Redheendran R, Neu RL, Bannerman RM. [passeidireto.com]

[…] activity results in increased enzyme substrate and abnormal actin-binding proteins important in neuronal morphogenesis. [4, 5] Fibroblast activity was found to be decreased by 80%-90% in patients with Lowe syndrome compared to healthy controls. [6] Epidemiology [emedicine.medscape.com]

Nephrotic syndrome: new concepts in the pathophysiology of sodium retention. J. Nephrology. 2008; 21 (6): 836–842. 2. Rondon-Berries H. New insights into the pathophysiology of oedema in nephritic syndrome. Nefrologia. 2011; 31 (2): 148–154. 3. [pf.spr-journal.ru]

Pathophysiology Frequency increases with HLA A10 DRW6 A26. In pemphigus vulgaris and pemphigus erythematosus, acantholytic cells and perilesional cells exhibit normal dotted pattern along the cell periphery. [accessanesthesiology.mhmedical.com]

The underlying pathophysiology is thought to be a diffuse cerebral microangiopathy resulting in initially microcystic, followed by macrocystic, parenchymal degeneration 1. [radiopaedia.org]

Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 18(8): 509—516. http://dx.doi.org/10.1177/08830738030180080701 ; PMid:13677575 18. Demougeot C, Garnier P, Mossiat C. 2001. [med-expert.com.ua]

Osteoarthritis Spondylolisthesis Obesity Smoking Malnutrition Lack of physical exercise or daily activity Pathophysiology [ edit ] 55% of facet syndrome cases occur in cervical vertebrae, and 31% in lumbar. [en.wikipedia.org]

Prevention - Sener syndrome Not supplied. Diagnosis - Sener syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Sener syndrome. [checkorphan.org]

Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. [ghr.nlm.nih.gov]

A thread sutured to the packing will prevent to forget the packing in the nasopharynx. [egms.de]

Low-dose spinal anesthesia for Cesarean section to prevent spinal-induced hypotension. Curr Opin Anaesthesiol. 2008;21:259-262. Loubert C. [medigraphic.com]