Presentation
There were no other abnormalities present in any of the family members. In 1951, Julia Bell classified the brachydactyly conditions in five main groups (A–E). This present form of brachydactyly combines the features of Types B and E. [accesspediatrics.mhmedical.com]
[…] as DLBD presents with cognitive and psychiatric signs in 72% cases as compared to PD (6%). [10] Corticobasal degeneration (CBD) is strikingly asymmetrical in its presentation, mimicking IPD. [12] Also, unlike other akinetic rigid syndromes, there is [annalsofian.org]
A 75-year-old man with chronic (30-year) unexplained paroxysmal hypoxemia presented with postural hypoxemia and desaturation consistent with a clinical manifestation of platypnea-orthodeoxia syndrome. [ohsu.pure.elsevier.com]
ABOVE: Audrey Ballard will appear in a video presentation at Times Square. [gotowncrier.com]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
Entire Body System
- Lymphedema
Here is a partial list of conditions that improve when lymph flow is increased: Arthritis Post-breast-cancer lymphedema Cellulite Chronic fatigue syndrome Fibromyalgia Depression Stress HIV Sinus problems Sluggishness Frequent colds and flu Respiratory [communityacupunctureseattle.com]
As a result of lymphatic obstruction, there is extra fluid in a Turner fetus referred to as lymphedema. [ballardpediatrics.com]
- Poor Growth
Since poor growth may be the only finding in many girls with Turner syndrome, this test should be strongly considered in any girl who has unexplained short stature. top Follow-up Studies Once the diagnosis of Turner syndrome has been established by chromosome [ballardpediatrics.com]
Neurologic
- Hyperreflexia
[…] meperidine abusers, is rarely encountered in clinical practice. [44] Akinetic rigid syndrome is commonly seen in miners and industrial workers exposed to heavy metals, especially manganese leading to slow movements, progressing to rigidity, dystonia, hyperreflexia [annalsofian.org]
Treatment
Sports/Injury Treatment This treatment is centered on directly treating a variety of soft tissue and repetitive-motion injuries that previously have not responded favorably to other types of sports therapies. [ballardhealthcenter.com]
Without treatment, both babies die 90 percent of the time. In the past, the principal treatment for twin-to-twin transfusion syndrome has been to drain fluid from the bigger baby to try to allow improved balance. [abcnews.go.com]
Genetic and preclinical studies offer opportunities for treatment development, and potential therapies have been identified using these approaches. [kclpure.kcl.ac.uk]
Though there are measures of treatment available, there is no cure, nor does any single treatment work for everyone.[2] The treatment for FAS may occur prenatally or after the birth of the child. [neurowiki2014.wikidot.com]
Turner syndrome is one of the three FDA approved indications for growth hormone treatment in children. [ballardpediatrics.com]
Prognosis
PMID: 22236802 Prognosis Creese B, Brooker H, Ismail Z, Wesnes KA, Hampshire A, Khan Z, Megalogeni M, Corbett A, Aarsland D, Ballard C Am J Geriatr Psychiatry 2019 Aug;27(8):823-834. Epub 2019 Feb 2 doi: 10.1016/j.jagp.2019.01.215. [ncbi.nlm.nih.gov]
The prognosis in children with 4q-syndrome, depends on the exact chromosomal breakpoint(s) [ 4, 12 ]. In 4q future research, genephenotype correlations are a central focus for global improvement [ 7 ]. [omicsonline.org]
Relationship between body mass index and prognosis of patients presenting with potential acute coronary syndromes. Acad Emerg Med 2013;20:904–10. http://doi.org/10.1111/acem.12211 Henrikson CA, Howell EE, Bush DE, et al. [ajp.paramedics.org]
Prognosis of Very Preterm Infants with Severe Respiratory Distress Syndrome Receiving Mechanical Ventilation. Lung. 2015 Jan 13. [Medline]. Billman GF, Hughes AB, Dudell GG, et al. [emedicine.medscape.com]
In this group idiopathic Parkinson's disease (PD) needs to be differentiated from other syndromes as it carries a better prognosis. [annalsofian.org]
Etiology
Full title Ballard syndrome Synonyms Pitt-Williams brachydactyly_x000D_ Brachydactyly types B and E combined Name in a foreign language - Inheritance Autosomal dominant CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment [retkebolesti.com]
The etiology of snapping scapula syndrome is multifactorial, and contributing factors include scapular dyskinesis, bursitis from repetitive use or trauma, and periscapular lesions. [healio.com]
Etiology STIs For most young, sexually active patients with genital ulcer disease (GUD), etiology is related to an STI. Most often it is due to herpes simplex virus type 1 or 2 (HSV-1 or HSV-2), causing genital herpes. [canada.ca]
Nat Rev Neurol 9:445–454 CrossRef PubMed Google Scholar [6] Verstraeten A, Theuns J, Van Broeckhoven C (2015) Progress in unraveling the genetic etiology of Parkinson disease in a genomic era. [link.springer.com]
Parkinsonism More Details can be caused by diverse etiologies. [annalsofian.org]
Epidemiology
Genetic counseling Therapy Clinical research Textual description - Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology The syndrome has been described in 12 members from four generations of one family. [retkebolesti.com]
METHODS AND RESULTS We identified 113 residents of Olmsted County, Minnesota, during the period 1953-1989 using the centralized records-linkage system provided by the Mayo Clinic and the Rochester Epidemiology Program Project. [circ.ahajournals.org]
Epidemiology The syndrome has been described in 12 members from four generations of one family. Genetic counseling Transmission appears to be autosomal dominant. [rarediseases.info.nih.gov]
Trust, Southampton, UK 5 Membership and Communications, Child Growth Foundation, Sutton Coldfield, UK 6 Department of Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton Children’s Hospital, Southampton, UK 7 MRC Lifecourse Epidemiology [adc.bmj.com]
Symptons of depression as a risk factor for incident diabetes: findings from the National Health and Nutrition Examination Epidemiologic Follow-up Study, 1971-1992. Am J Epidemiol 158:416-23, 2003. 19. [siicsalud.com]
Pathophysiology
Pathophysiologic mechanisms of cardiovascular disease in obstructive sleep apnea syndrome. Pulm Med [Internet]. 2013 [citado 2015 Ene 15]; 2013: 521087. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23936649 Vgontzas AN. [revista.acorl.org]
Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004;5:725–38. 14. Sinet PM, Theopile D, Rahmani Z, Chettouch Z, Blovin JL, Prier M, et al. Mapping of Down syndrome phenotype on chromosome 21 at the molecular level. [slideshare.net]
Prevention
This book also presents basic information on pulmonary surfactant in the clinical area, particularly in 1) diagnosis and movement of neonatal respiratory distress; 2) prenatal assessment of fetal lung maturity; and 3) prevention of hyaline membrane disease [books.google.com]
When providing treatment during in utero stages, it gives the opportunity to prevent, slow or reverse the damages that are associated with alcohol during the prenatal period. [neurowiki2014.wikidot.com]
"A therapy to allow a small amount of defective DFNB12 protein to be made to suppress the effects of the mutation that causes vision loss in Usher syndrome could take decades to develop, but now we know that it might be possible to prevent or slow the [ballardhearing.net]
A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [medlineplus.gov]