Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha thalassaemia is not always present. [orpha.net]

In the ISCVT registry, only 5.1% of patients presented serious residual disability, while 70-85% of patients presented a complete recovery 2 months after follow-up. [ruralneuropractice.com]

A case of fulminant primary CNS Whipple’s disease is reported in which the diagnosis was made on clinical presentation and the magnetic resonance image. [documents.mx]

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]

• Disability

  Hair defeft-photosensitivity-intellectual disability syndrome Specialty Medical genetics Symptoms fragile, stubby hair, photosensitive eyebrows and eyelashes and intellectual disabilities Hair defect-photosensitivity-intellectual disability, also known [en.wikipedia.org]

  National Center for Advancing Translational Sciences Home Browse by Disease Hair Defect-Photosensitivity-Intellectual Disability Syndrome Hair Defect-Photosensitivity-Intellectual Disability Syndrome Other Names: Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu [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]

  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]

• Weakness

  RESULTS: Results revealed a total of 29 employment strengths and nine employment weaknesses. [content.iospress.com]

  She was admitted to the hospital complaining of numbness of hands and feet and progressive weakness of all limbs. Similar symptoms had occurred during 3 previous pregnancies and had progressed to quadraplegia with areflexia. [popline.org]

  weakness (ICU-AW) is an important complication of critical illness. [wfneurology.org]

  They all displayed the clinical features of CIDP during relapse, with paresthesias, weakness, hyporeflexia or areflexia, and sensory im- pairment. One patient (SF) had diplopia as an addi- tional symptom. [docslide.net]

  Indeed, only a few studies found weak or no cytogenetic effects in exposed individuals exposed, probably due to the small number of individuals analyzed [ 49, 50, 51 ]. [mdpi.com]

• Fishing

  […] ionization‐mass spectrometry: An evaluation of different protein hydrolysis procedures AVC Simionato, EP Moraes, E Carrilho, MFM Tavares, E Kenndler Electrophoresis 29 (10), 2051-2058, 2008 46 2008 Extraction of tetracyclinic antibiotic residues from fish [scholar.google.com.br]

  Four years after the van he was working on exploded in flames and left him with second-degree burns over much of his body, Air Force veteran Ronnie Bishop, 62, has given up on the fish tanks and woodworking tools that used to fill his spare time. [apps.texastribune.org]

  The -3 fatty acids from fish oils, since example, predominantly eicosapentaenoic acid (EPA) and docosa- hexaenoic acid (DHA), comprise one everyday dietary component that has anti- fiery properties. [waittfoundation.org]

• Asymptomatic

  A high percentage of lymphoceles are diagnosed incidentally because most perirenal lymphatic collections are small and asymptomatic. [cjasn.asnjournals.org]

  Shallow EJ et al (2006) Placebo-controlled phase III hardship of immunologic analysis with sipuleu- cel-T (APC8015) in patients with metastatic, asymptomatic hormone refractory prostate cancer. [waittfoundation.org]

  However, other studies didn’t confirm these results: in West Bengal a higher GSTM1 null gene frequencies in asymptomatic individuals than skin symptomatic participants has been observed, and no association was observed for allelic variants in GSTT1 in [mdpi.com]

• Swelling

  The clinical presentation of urine leaks includes intense pain and swelling over or around the graft that radiates to surrounding areas, fevers, and change in graft function. [cjasn.asnjournals.org]

  […] of thrombi, whether in sinus or in cortical areas. [79] In patients with septic, lateral sinus thrombosis can be found erosion in the middle ear structures and changes in the mastoid region. [83] Early changes are often subtle, with brain edema and swelling [ruralneuropractice.com]

• Hypotension

  Delayed subdural hematoma and cerebral venous thrombosis in a patient with spontaneous intracranial hypotension. Neurol Sci 2011;32:981-3. 27. Seiler R, Hamann GF. Sinus venous thrombosis as complication of a spontaneous intracranial hypotension. [ruralneuropractice.com]

• Blurred Vision

  Review of systems revealed the recent development of mild blurred vision and bilateral shoulder pain. She had no gastrointestinal complaints or history of fever. [documents.mx]

• Photosensitivity

  Hair defeft-photosensitivity-intellectual disability syndrome Specialty Medical genetics Symptoms fragile, stubby hair, photosensitive eyebrows and eyelashes and intellectual disabilities Hair defect-photosensitivity-intellectual disability, also known [en.wikipedia.org]

  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]

  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 [rarediseases.info.nih.gov]

  Hair Defect with Photosensitivity and Mental Retardation. Three cases have been described (three sisters). Autosomal recessive. [accessanesthesiology.mhmedical.com]

• Kinky Hair

  Research of Calderon Gonzalez-cantu Syndrome has been linked to Brain Diseases, Metabolic, Menkes Kinky Hair Syndrome, Photosensitivity Disorders. [novusbio.com]

  Calderon R, Gonalez-Cantu N: Kinky hair, photosensitivity, broken eyebrows and eyelashes and non-progressive mental retardation. J Pediatr 95:1007, 1979. [PubMed: 501478] [accessanesthesiology.mhmedical.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]

  […] syndrome; Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability (formerly)Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu syndrome; Kinky hair, photosensitivity, broken eyebrows and eyelashes [rarediseases.info.nih.gov]

• Sparse to No Eyebrows

  […] retardation Hair: stubby hair, eyebrows and eyelashes coarse hair, eyebrows and eyelashes sparse hair, eyebrows and eyelashes fragile hair, eyebrows and eyelashes Clinical features from OMIM: 234030 MalaCards organs/tissues related to Hair Defect with [malacards.org]

  […] 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]

• Alopecia

  […] also known as--> Moloney syndrome or Regional choroidal atrophy and alopecia. [en.wikipedia.org]

• Suggestibility

  The features of the syndrome do not suggest that any specific precautions are necessary. Calderon R, Gonalez-Cantu N: Kinky hair, photosensitivity, broken eyebrows and eyelashes and non-progressive mental retardation. J Pediatr 95:1007, 1979. [accessanesthesiology.mhmedical.com]

  This difference suggests thát relapsing neuropathy of pregnancy is not immunologic in origin. [jamanetwork.com]

  Anesthetic considerations The features of the syndrome do not suggest that any specific precautions are required. Pharmacological implications None specific to this syndrome. [accesspediatrics.mhmedical.com]

  Our findings suggest that GAS populations are much more complex. [wwwnc.cdc.gov]

  The diagnosis of Whipple’s disease of the cen- tral nervous system was suggested by her presentation and results of studies using magnetic resonance imag- ing. [documents.mx]

• 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]

• Cesarean Section

  She underwent uneventful cesarean sections at full term. Excellent spontaneous recovery followed the first cesarean section over a period of 12 months. Recovery was incomplete ten months after the second delivery. [jamanetwork.com]

• Seizure

  Fifty-eight (77%) patients had tonic-clonic seizures, 9 (12%) complex partial seizures (PS), 5 (7%) simple partial motor seizures and 3 (4%) secondary tonic-clonic seizures. [karger.com]

  Epileptic seizures in systemic lupus erythematosus. Neurology. 2004;63(10):1808–1812. 9. Petri M, Orbai AM, Alarcón GS, et al. [dovepress.com]

  […] patients with presenting seizures had a higher risk of recurrent seizures within 2 weeks, supporting the prescription of anti-epileptic drugs in acute CSVT patients with supratentorial lesions who present with seizures. [ruralneuropractice.com]

  Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. [orpha.net]

• Areflexia

  Similar symptoms had occurred during 3 previous pregnancies and had progressed to quadraplegia with areflexia. The pregnancies ended in normal deliveries. [popline.org]

  […] disease epilepsy occipital calcifications Cennamo Gangemi syndrome Central nervous system protozoal infections Central type neurofibromatosis Centromeric instability immunodeficiency syndrome Centrotemporal epilepsy Cephalopolysyndactyly Cerebellar ataxia areflexia [en.wikipedia.org]

  They all displayed the clinical features of CIDP during relapse, with paresthesias, weakness, hyporeflexia or areflexia, and sensory im- pairment. One patient (SF) had diplopia as an addi- tional symptom. [docslide.net]

• Encephalopathy

  Julien Lagarde, Florence Moncharmont, Fatma Bouibede, Thierry Maisonobe 257-259 Bilateral cytotoxic edema of the centrum semiovale in uremic encephalopathy 18 July 2014 Full Text PDF (328 KB) Uremic encephalopathy (UE) is a relatively new entity, resulting [wfneurology.org]

  […] improperly and provoke blood clots in vessels leading to subsequent disorders in the central and peripheral nervous systems. 25, 26 Serum antineuronal antibodies are prevalent in patients with SLE suffering from neurological manifestations subsequent to encephalopathies [dovepress.com]

• Papilledema

  […] occurs in up to 25%-40% of patients with CSVT, confusing the diagnostic process. [13], [37] Even in the absence of neurological focal signs suggestive of idiopathic ICH, in all patient with headache and papilledema or diplopia (caused by sixth nerve [ruralneuropractice.com]

• ST Elevation

  elevation through fingerprinting with CE‐MS and HILIC‐MS targeted analysis S Naz, ÁA Calderón, A García, J Gallafrio, RT Mestre, EG González, ... [scholar.google.com.br]

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]

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]

[ edit ] The treatment/management for Cantú syndrome is based on surgical option for patent ductus arteriosus in early life, and management of scoliosis via bracing. [en.wikipedia.org]

Treatment variations in cerebral venous thrombosis: An international survey. Cerebrovasc Dis 2011;32:298-300. 101. Einhäupl KM, Villringer A, Meister W, Mehraein S, Garner C, Pellkofer M, et al. Heparin treatment in sinus venous thrombosis. [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]

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]

Prevalence, correlates, and prognosis of peripheral artery disease in rural ecuador - Rationale, protocol, and phase i results of a population-based survey: An atahualpa project-ancillary study. [scielo.org.co]

Challenges of Prognosis in Cancer Pain. PAIN, 2012. [faculty.mdanderson.org]

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]

This work aims to review current knowledge about CSVT including its pathogenesis, etiology, clinical manifestations, diagnosis, and treatment. [ruralneuropractice.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]

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]

Peripheral artery disease: epidemiology and global perspectives. En: Nature Publishing Group. 2016. vol. 14(3), p. 156-170. ISSN 1759-5002. https://doi.org/10.1038/nrcardio.2016.179. [ Links ] 29. [scielo.org.co]

What is the pathophysiological mechanism?. Rev Neurol (Paris) 2012;168:379-80. 23. Price K, Wilson L, Tsegaye M. A case of craniocervical abscess with sinus thrombosis in Lemierre's syndrome. Br J Neurosurg 2012;26:426-8. 24. [ruralneuropractice.com]

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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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]

Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. [ruralneuropractice.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]