Presentation
A family history of multiple affected male patients in an X-linked pattern of segregation is present in 8 of the 10 families. [ncbi.nlm.nih.gov]
and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References GENERALIZED ANXIETY DISORDER Patients with GAD typically present with excessive anxiety about ordinary [aafp.org]
The mutation identified in the present case study lie next to the N-terminal transmembrane domain. [frontiersin.org]
For Elise and Demir Dilci – 16-year-old twins whose research was presented Sunday at the American Heart Association's Scientific Sessions in Chicago – it was certainly all that. [heart.org]
Down-slanting palpebral fissures Throat Droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip due to hypotonia Abdomen Inguinal hernia Extremities Broad thumbs and great toes Neurologic Severe hypotonia Others Imperforate anus may be present [wikidoc.org]
Cardiovascular
- Cardiomegaly
He had cardiomegaly on chest x-ray. His discharge diagnoses were “multiple congenital anomalies, cerebral dysgenesis, congenital heart disease with pulmonary artery hypertension, and coarctation of the aorta.” [ncbi.nlm.nih.gov]
Psychiatrical
- Short Attention Span
Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. [medlineplus.gov]
Workup
See Workup for more detail. [emedicine.medscape.com]
X-Ray
- Atelectasis
Atelectasis delayed his discharge home until 5 days of age. He had difficulty in breastfeeding because of hypotonia. Strabismus of his left eye, inguinal hernia and an undescended testicle required surgical interventions. [ncbi.nlm.nih.gov]
Treatment
There is no cure for SPS, but treatments can help control the symptoms. [medicalnewstoday.com]
This type of treatment is the best treatment at this time for type 1 diabetes. This is an exciting time for patients and for physicians that are keen to develop, prescribe such therapies. Surgery is another option. [mayoclinic.org]
That doesn’t mean treatment can’t help. But therapy and other approaches generally only work when someone willingly puts in the effort. Possible treatments for ASPD include the following. [healthline.com]
[…] of anemia in subjects with CKD on dialysis, with treatment up to 52 weeks. [clinicaltrials.gov]
Treatment Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References Some studies evaluating anxiety treatments assess non-specific [aafp.org]
Prognosis
Natural History, Complications and Prognosis About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection; premature death is rare after infancy. [wikidoc.org]
Early recognition of poor prognosis in Guillain-Barré syndrome. Neurology 2011; 76: 968-75. [ Links ] 102. Soysal A, Aysal F, Caliskan B, et al. Clinico-electro physiological findings and prognosis of Guillain-Barré syndrome-10 years’ experience. [scielo.org.ar]
Last updated: 3/16/2016 Prognosis Prognosis Serious complications of FG syndrome, such as heart defects, breathing complications, or gastrointestinal (GI) malformations, may shorten the lifespan of affected individuals. [rarediseases.info.nih.gov]
Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS). Presse Med. 2013 Jun. 42(6 Pt 2):e193-201. [Medline]. [emedicine.medscape.com]
Etiology
C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]
The genetic etiology has been determined for only six autosomal dominant and one autosomal recessive sub-type including DA1 (OMIM 108120) caused by mutation in the TPM2 gene located on chromosome 9p13.3 (5), DA2A, DA2A7, and DA2A8 (OMIM 193700, 158300 [frontiersin.org]
Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008;50:104–111. [PubMed] [Google Scholar] 17. Schwartz CE, Tarpey PS, Lubs HA, et al. [ncbi.nlm.nih.gov]
Etiology GBS is considered to be a postinfectious, immune-mediated disease targeting peripheral nerves. [emedicine.medscape.com]
Epidemiology
Xq22.3 Epidemiology and Demographics The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. [wikidoc.org]
C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]
[…] study reported a decreased GBS incidence following administration of tetanus toxoid containing vaccinations when compared with the baseline population [60] An epidemiologic study failed to show any conclusive epidemiologic association between GBS and [emedicine.medscape.com]
Guillain-Barré syndrome, influenza, and influenza vaccination: the epidemiologic evidence. Clin Infect Dis 2014; 58: 1149-55. [ Links ] 40. Thornton CA, Latif AS, Emmanuel JC. [scielo.org.ar]
Degenerative cervical myelopathy: Epidemiology, genetics, and pathogenesis. Spine (Philalelphia), 40(12), E675–E693. Pueschel, S. M., Findley, T. W., Furia, J., Gallagher, P. L., Scola, F. H., & Pezzullo, J. C. (1987). [sindromedownvidaadulta.org]
Pathophysiology
Pathophysiology Genetics Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. In one of these regions, a mutation in a particular gene called MED12 has been found to cause the disorder. [wikidoc.org]
C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]
Cervical spondylotic myelopathy: A brief review of its pathophysiology, presentation, assessment, natural history and management. Orthopaedics and Trauma, 25(3),181–189. Young, W. F. (2000). [sindromedownvidaadulta.org]
Prevention
Prevention Type 1 diabetes can't be prevented. But the healthy lifestyle choices that help treat prediabetes, type 2 diabetes and gestational diabetes can also help prevent them: Eat healthy foods. [mayoclinic.org]
"We need policies to reverse the lasting impact of redlining so we can prevent this in the future." Find more news from Scientific Sessions. [heart.org]
Medication should be continued for 12 months before tapering to prevent relapse. [aafp.org]
Screening for osteoporosis in the adult U.S. population: ACPM position statement on preventive practice. American Journal of Preventive Medicine, 36(4), 366–375. [sindromedownvidaadulta.org]
Centers for Disease Control and Prevention. Available at http://www.cdc.gov/zika/hc-providers/diagnostic.html. 2016 Feb 11; Accessed: 2016 Feb 12. Souayah N, Nasar A, Suri MF, Qureshi AI. [emedicine.medscape.com]