Presentation
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
A case of fulminant primary CNS Whippleâs disease is reported in which the diagnosis was made on clinical presentation and the magnetic resonance image. [documents.mx]
Patients who presents with CSVT should underwent to CT-scan venography (CVT) and to the proper inquiry of the generating cause. This disease can affect the cerebral venous drainage and related anatomical structure. [ruralneuropractice.com]
After 2 years slight foot-drop was present. There seemed to be a relation between female hormones and the recurrent disorder. The possibility that immunopathologic factors were involved was considered. [popline.org]
Entire Body System
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Disability
Homepage Rare diseases Search Search for a rare disease Hair defect-photosensitivity-intellectual disability syndrome Disease definition Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows [orpha.net]
PubMed is a searchable database of medical literature and lists journal articles that discuss Hair defect-photosensitivity-intellectual disability syndrome. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]
Implemented in 2009, the Americans with Disabilities Act Amendments Act (ADAAA) continues the long standing emphasis of the ADA on the right of individuals with disabilities who are otherwise qualified for a position to request and use reasonable accommodations [content.iospress.com]
We describe a 24-year-old woman with two attacks of disabling polyneuritis in successive pregnancies. She underwent uneventful cesarean sections at full term. [jamanetwork.com]
Address reprint requests to Dr McLeod. increase in disability by one or more grades on the disability scale [12) with subsequent improvement. The onset of re- lapses was not related to change in therapy. [docslide.net]
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Whipple Disease
Despite a one-month course of antibiotics, active Whipples disease, localized to the central nervous sys- tem, was found at autopsy. Adams M, Rhyner PA, Day J, DeArmond S, Smuckler EA: Whipples disease confined to the central nervous system. [docslide.net]
Castaigne and colleagues… About us Terms Whipple's disease confined to the central nervous system There have been previous isolated case reports of subacute and relapsing neuropathy occurring in preg- nancy, frequently during its later stages. [documents.mx]
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Weight Loss
Dvorak A, Monahan R Weight loss, fatigue, diarrhea, fever, and lymphadenopathy in a 48-year-old male industrial engineer. Electron Optics Report 3 1 : 10-2 1, 1984 4. [documents.mx]
Clinical Outcomes and Contributions to Weight Loss in a Cancer Cachexia Clinic. J Palliat Med 14(9), 2011. e-Pub 2011. PMID: 21793729. Bruera E, Hui D. Palliative Care Units: the best option for the most distressed. [faculty.mdanderson.org]
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Malnutrition
[…] most widely used method for clinical diagnosis of obesity, it is not a measure of body composition because it only provides information about global changes in the body, without specifying the components that are specifically affected in situations of malnutrition [elsevier.es]
Gastrointestinal
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Increased Appetite
She had been in excellent health until approximately 6 months prior to admission, when she noted increased appetite and somnolence. Review of systems revealed the recent development of mild blurred vision and bilateral shoulder pain. [documents.mx]
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Nausea
Roila F, Molassiotis A, Herrstedt J, Aapro M, Gralla RJ, Bruera E, Clark-Snow RA, et al. 2016 MASCC and ESMO guideline update for the prevention of chemotherapy- and radiotherapy-induced nausea and vomiting and of nausea and vomiting in advanced cancer [faculty.mdanderson.org]
Skin
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Photosensitivity
Showing of 11 80%-99% of people have these symptoms Abnormal hair quantity 0011362 Brittle hair 0002299 Coarse hair Coarse hair texture 0002208 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight [rarediseases.info.nih.gov]
[…] and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. [orpha.net]
Research of Calderon Gonzalez-cantu Syndrome has been linked to Brain Diseases, Metabolic, Menkes Kinky Hair Syndrome, Photosensitivity Disorders. [novusbio.com]
Names and Terminology for Hair defect with photosensitivity and mental retardation Other Names : Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation; Calderon Gonzalez-Cantu syndrome Source: GARD (NIH) 1 [familydiagnosis.com]
Diseases related to Hair Defect with Photosensitivity and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Hair Defect with Photosensitivity and Mental Retardation: 60 33 (show all 13) [malacards.org]
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Kinky Hair
Research of Calderon Gonzalez-cantu Syndrome has been linked to Brain Diseases, Metabolic, Menkes Kinky Hair Syndrome, Photosensitivity Disorders. [novusbio.com]
Title Other Names: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly); Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu syndrome Categories: The following summary is from Orphanet, a [rarediseases.info.nih.gov]
Names and Terminology for Hair defect with photosensitivity and mental retardation Other Names : Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation; Calderon Gonzalez-Cantu syndrome Source: GARD (NIH) 1 [familydiagnosis.com]
Calderon, R, Gonzales-Cantu, N: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95: 1007 – 1008, 1979. Google Scholar 3. [journals.sagepub.com]
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Brittle Hair
Showing of 11 80%-99% of people have these symptoms Abnormal hair quantity 0011362 Brittle hair 0002299 Coarse hair Coarse hair texture 0002208 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight [rarediseases.info.nih.gov]
Itin, PH, Pittelkow, MR: Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 22: 705 – 717, 1990. Google Scholar 7. [journals.sagepub.com]
hair 60 33 Very frequent (99-80%) HP:0002299 6 abnormality of immune system physiology 60 Frequent (79-30%) 7 abnormal hair quantity 60 Very frequent (99-80%) 8 fine hair 60 Very frequent (99-80%) 9 abnormality of the hair 60 Very frequent (99-80%) 10 [malacards.org]
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Sparse to No Eyebrows
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 30%-79% of people have these symptoms Abnormality of immune system physiology 0010978 Percent of people who have these symptoms [rarediseases.info.nih.gov]
eyebrow 60 Very frequent (99-80%) 12 pili torti 60 Very frequent (99-80%) 13 sparse and thin eyebrow 33 HP:0000535 Symptoms via clinical synopsis from OMIM: 58 Skin: photosensitivity Neuro: nonprogressive mental retardation Hair: stubby hair, eyebrows [malacards.org]
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Sparse Eyebrows
eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 30%-79% of people have these symptoms Abnormality of immune system physiology 0010978 Percent of people who have these symptoms is not available through [rarediseases.info.nih.gov]
eyebrow 60 Very frequent (99-80%) 12 pili torti 60 Very frequent (99-80%) 13 sparse and thin eyebrow 33 HP:0000535 Symptoms via clinical synopsis from OMIM: 58 Skin: photosensitivity Neuro: nonprogressive mental retardation Hair: stubby hair, eyebrows [malacards.org]
Psychiatrical
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Fear
[…] other workers. 94.5 Make the decision to quit or retire without being pressured or forced to do so by employers. 93.9 Are evaluated based on their performance, not on assumptions about MS. 93.9 Can request a review of their accommodation needs without fear [content.iospress.com]
Urogenital
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Sexual Dysfunction
dysfunction (32.5%), speech problems (21.4%), tremor (17.5%), and bipolar disorder (5.8%). 2.2 Instrument The instrument used in the survey was a 98-item questionnaire that included fixed and open response sets. [content.iospress.com]
Neurologic
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Tremor
[…] impairment (48.1%), bowel/bladder dysfunction (45.1%), pain (44.7%), numbness (44.7%), spasticity (43.7%), sleep disturbance (40.3%), depression (39.8%), anxiety (36.9%), vision problems (34.5%), sexual dysfunction (32.5%), speech problems (21.4%), tremor [content.iospress.com]
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Foot Drop
After 2 years slight foot-drop was present. There seemed to be a relation between female hormones and the recurrent disorder. The possibility that immunopathologic factors were involved was considered. [popline.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
This work aims to review current knowledge about CSVT including its pathogenesis, etiology, clinical manifestations, diagnosis, and treatment. [ruralneuropractice.com]
Treatment n Total fruits/treatment (%) Fruit measures (mean SE) Total number of seeds collected/treatment Weight (g) Length (mm) Width (mm) Open-pollination 40 40 (100) 0.15 0.01 (0.04–0.25) 11.90 0.21 (9.26–15.02) 6.45 0.12 (4.84–7.89) 7,595 Natural [peerj.com]
Prognosis
Prognosis depends on the early detection. Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. [ruralneuropractice.com]
Prognosis A number of individuals with ATR-X are fit and well in their 30s and 40s. The documents contained in this web site are presented for information purposes only. [orpha.net]
Challenges of Prognosis in Cancer Pain. PAIN, 2012. [faculty.mdanderson.org]
Etiology
This work aims to review current knowledge about CSVT including its pathogenesis, etiology, clinical manifestations, diagnosis, and treatment. [ruralneuropractice.com]
Etiology This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. [orpha.net]
The etiologic classification of epilepsy. Epilepsia. 2011; 52(6):1052–1057. 15. West SG. Lupus and the central nervous system. Curr Opin Rheumatol. 1996;8(5):408–414. 16. Cheng T-M. [dovepress.com]
Etiologies of a little increased 17-OHP concentrations include prematurity cheap sulfasalazine 500 mg amex, The using software is headache version. [waittfoundation.org]
Further means of distinguishing the causes of optic neuritis among these etiologies would be va... John H. Pula, Jorge C. [wfneurology.org]
Epidemiology
ORPHA:1408 Synonym(s): Calderón-González-Cantu syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 234030 UMLS: C1856241 MeSH: - GARD: 2582 MedDRA: - Summary Epidemiology It has been described in three [orpha.net]
Epidemiology It has been described in three sisters born to consanguineous parents. Last updated: 4/22/2006 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]
Overall, this combination of factors results in a complex epidemiologic situation for GAS pharyngitis. [wwwnc.cdc.gov]
Furthermore, epidemiological studies have observed that there is an high inter-individual variability in the susceptibility to arsenic-induced toxicity. [mdpi.com]
Pathophysiology
The pathophysiologic mechanisms of neuronal damage from seizures and psychotic episodes for SLE patients have been associated with inflammatory cytokines, autoantibodies, and specific and nonspecific immune complexes. 14, 22 SLE patients are thus at an [dovepress.com]
Prevention
Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. [ruralneuropractice.com]
Journal of Investigative Dermatology 135 (5), 1338-1347, 2015 43 2015 Calpain inhibitors prevent p38 MAPK activation and germ cell apoptosis after heat stress in pubertal rat testes C Lizama, CF Lagos, R Lagos‐Cabré, L Cantuarias, F Rivera, ... [scholar.google.cl]
Work: A Journal of Prevention, Assessment, and Rehabilitation, 44, 11–36. 3 Bishop M., Roessler R., Rumrill P., Frain M., Waletich B., & Umeasiegbu B. (2013). [content.iospress.com]
Results In this study, BMI was determined in 80 schoolchildren who were classified as obese and non-obese, according to the Centers for Disease Control and Prevention growth charts and divided into 2 equal groups. [elsevier.es]
Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. [wwwnc.cdc.gov]