Presentation
On his maternal side, a family history of hypertension was present. On clinical examination, a bruit was heard over the abdominal aorta. Pulsations in the groin were present. [vasculardiseasemanagement.com]
“She put together a presentation on her computer and goes to all the classrooms during her free period and does the presentation to bring awareness about Down syndrome,” said Peyton’s mom, Roxanne Brill. “She does that every year.” [grandhaventribune.com]
Sometimes the mosaicism can be present only in the testes. Azoospermia is present only in 50% and some patients can be fertile (Okada, Hum Reprod 14:946,1999). [gfmer.ch]
Something Left Behind + Q&A The definitive story of The Wedding Present's much heralded 1987 debut LP ‘George Best’. 26 May 2019 Ella Fitzgerald: Just One of Those Things Ella Fitzgerald was a 15 year-old street kid when she won a talent contest in [queensfilmtheatre.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
- Pain
National Spine & Pain Centers offer some insight and tips on how manage your carpal tunnel syndrome. Not all wrist pain is carpal tunnel syndrome but if it is, this article offers tips to reduce and manage the pain. [healthstatus.com]
P ain – bone pain (this is unbelievably painful), muscle pain, and pain at my stoma (I attribute most of my joint pain and muscle pain to my EDS, the MCAS pain is specific and different) GI problems – I have gastroparesis and colonic inertia, which are [digestingthefacts.com]
You could also feel pain or discomfort in the following areas: back neck jaw arms Left arm pain is often considered a heart attack symptom, but you could have pain in your right arm or both arms. The primary symptom of unstable angina is chest pain. [healthline.com]
Only take the pain meds when you have the symptoms such as pain, legs that won't settle down...the problem starts when we take pain meds to prevent the problem from showing up...that's when it can spill over to addiction. [healthunlocked.com]
Medicines for tummy pain and wind If you have pain, paracetamol can help reduce this. Antispasmodic medicines, such as mebeverine hydrochloride, hyoscine butylbromide and peppermint oil capsules, may help your abdominal pain and wind. [bupa.co.uk]
- Disability
Rett syndrome resu lts when half the cells in the child’s brain and spinal cord are normal and half are abnormal (the child survives, but has a severe disability). [rettuk.org]
+ syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability Najm type syndromic X-linked intellectual disability Shrimpton type syndromic X-linked intellectual [rgd.mcw.edu]
Central nervous system abnormalities, including small head size, intellectual disability, poor fine motor skills, or poor eye-hand coordination. [myhealth.alberta.ca]
ADULTS WITH DOWN SYNDROME At Park Ridge we specialize in caring for adults with Down syndrome and other intellectual disabilities who require professional nursing and/or rehabilitative medical care. [parkridgecc.com]
It’s not a disability, it’s a different ability.” Kyle and Roxanne Brill say they’re extremely proud of what their daughter has accomplished. “It just brings tears to my eyes,” Roxanne said. [grandhaventribune.com]
- Abdominal Obesity
Among the five components, TT was most strongly associated with hypertriglyceridemia and abdominal obesity. [journals.plos.org]
High blood pressure (24.1%), abdominal obesity (20.7%) and low HDL-c (19.0%) were the most prevalent components of MS among men, while abdominal obesity (26.2%), low HDL-c (19.3%) and hypertriglyceridemia (12.0%) were more prevalent in women. [dmsjournal.biomedcentral.com]
Metabolic syndrome was defined with the ATP-III criteria with modification for male abdominal obesity. [archivestsc.com]
Diabetic Metabolism Research Reviews 15, 427 – 441 Bjorntorp, P ( 2000 ) Do stress reactions cause abdominal obesity and comorbidities. Obesity Reviews 2, 73 – 86 Bjorntorp, P & Rosmond, R ( 1999 ) Hypothalamic origin of the metabolic syndrome X. [cambridge.org]
It’s actually the term for a cluster of conditions, including abdominal obesity, high triglyceride levels, high fasting blood sugar levels, high blood pressure or low HDL cholesterol. [draxe.com]
- Trisomy 21
He told me very gently that my prenatal quad screening test came back with a 1 in 21 chance that my baby had Down syndrome (Ds), otherwise known as Trisomy 21. It felt like my world had come crashing down. [honoringjensen.com]
(Scheiker 1982) other karyotype abnormalities: Chromosomal abnormalities in somatic cells: trisomy 21 or 8XYY : fertile or spermatogenic arrest. [gfmer.ch]
J Cardiothorac Vasc Anesth. 2007 Apr. 21 (2):203-7. [Medline]. Singh TP, Rohit M, Grover A, Malhotra S, Vijayvergiya R. [emedicine.medscape.com]
- Severe Pain
I get attacks of cramps, gas, alternating constipation and diarrhea, severe, painful bloating, and nausea. [digestingthefacts.com]
I experience severe pain when at rest and most of the time movement is the only solution. I'm not ready for the opioids yet. I can't wait for Horizant to see how well it works. Peaceful and non painful sleep seems like a dream sometimes. [medicinenet.com]
Gastrointestinal
- Nausea
I get attacks of cramps, gas, alternating constipation and diarrhea, severe, painful bloating, and nausea. [digestingthefacts.com]
The first few weeks of my pregnancy were “normal,” nothing besides some nausea. Right around the time my small baby bump formed, it was time for me to go get my 14-week ultrasound. [themighty.com]
Other symptoms of ACS can include: shortness of breath feeling dizzy or lightheaded nausea The pain associated with ACS may also extend from the center of the chest out to one or both sides of your chest. [healthline.com]
There was no history of headache, nausea or hot flushes, nor complaints of claudication. The patient never smoked. On his maternal side, a family history of hypertension was present. [vasculardiseasemanagement.com]
I have been taking requip for years and it works great, just not for 24 hours like I need.I do have to keeps anti- nausea medicine on hand though for the times that the requips make me sick. [medicinenet.com]
- Vomiting
[…] for an ambulance if: your heartbeat doesn't go back to normal in a few minutes you have chest pain that lasts more than 15 minutes – you may also have pain in your arms, back or jaw you have chest pain and other symptoms like feeling sick, being sick (vomiting [nhs.uk]
I am on 2mg of ropinirole for my legs which makes me feel like I have to vomit everynight ( literally) and I take 1800 mg of gabypentin along with trazadone all which I take soley to ease my rls. It helps but doesn't stop it for me.. [healthunlocked.com]
I have other medical problems as well but have tried reequip which made me vomit, Neurontin which made me dizzy and faint, and Mirapex which caused me to be even dizzier and vomit. [medicinenet.com]
She also had heart failure induced reflux that caused round the clock gagging, wretching, heaving, and vomiting (every few minutes) that would leave her exhausted. [downsyndromepregnancy.org]
Syndrome Faciocardiorenal Syndrome factitious disorder + Failed Back Surgery Syndrome Fallot Complex with Severe Mental and Growth Retardation Familial Antiphospholipid Syndrome Familial Convulsive Disorder with Prenatal or Early Onset Familial Cyclic Vomiting [rgd.mcw.edu]
Musculoskeletal
- Small Hand
[…] finger bones 0009803 Short toe Short toes Stubby toes [ more ] 0001831 Short upper lip Decreased height of upper lip Decreased vertical length of upper lip Shortening of upper lip [ more ] 0000188 Small hand Disproportionately small hands 0200055 Strabismus [rarediseases.info.nih.gov]
- Osteoporosis
Syndrome Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis [rgd.mcw.edu]
Breast
- Widely Spaced Nipples
[…] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge [rarediseases.info.nih.gov]
Face, Head & Neck
- Short Neck
neck Decreased length of neck 0000470 Synostosis of carpal bones Fusion of wrist bones 0005048 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ] 0005978 Percent of people who have these symptoms is not [rarediseases.info.nih.gov]
- Round Face
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Shield chest 0000914 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279 Short phalanx [rarediseases.info.nih.gov]
Neurologic
- Confusion
Major cognitive dysfunction – brain fog, confusion, word recall issues, troubling completing sentences, completely forgetting what I was talking about mid-sentence and being unable to remember, memory problems, trouble focusing, etc. [digestingthefacts.com]
I was confused. I wasn’t in the territory of “advanced maternal age.” Why did this have to happen to us? This was my first pregnancy and I was angry and sad that I had to deal with this added anxiety, fear and stress. [honoringjensen.com]
Urogenital
- Cryptorchidism
It can be the result from several etiologies: viral orchitis, cryptorchidism, androgen resistance, familial syndrome. [gfmer.ch]
- Premature Ejaculation
SEXUAL DYSFUNCTION Impotence and premature ejaculations. Discussed by Prof. Ruedi. IX. [gfmer.ch]
Workup
(See Presentation and Workup .) [emedicine.medscape.com]
Serum
- Dyslipidemia
Serum apolipoprotein E concentrations among Turks: information additive to genotype relative to dyslipidemia and metabolic syndrom. Turk Kardiyol Dern Ars. 2007; 35(8): 449-457 Corresponding Author: Altan Onat, Türkiye [archivestsc.com]
Conclusion: Mildly impaired kidney function is common in nondiabetic adults among whom MS prevails, and in men it is mainly associated with IR but not with central obesity and MS-related dyslipidemia. [karger.com]
American Journal of Hypertension 15, 780 – 786 Snijder, MB, Zimmet, PZ, Visser, M, Dekker, JM, Seidell, JC & Shaw, JE ( 2004 ) Independent and opposite associations of waist and hip circumferences with diabetes, hypertension and dyslipidemia: the AusDiab [cambridge.org]
Diabetes Care 26 : 2442 –2450, 2003 ↵ Matsubara M, Maruoka S, Katayose S: Decreased plasma adiponectin concentrations in women with dyslipidemia. [care.diabetesjournals.org]
It appears that the presence of two MS components is capable of identifying higher values of anthropometric indicators of obesity, atherogenic dyslipidemia, and insulin resistance index. [dmsjournal.biomedcentral.com]
Treatment
Treatment options for irritable bowel syndrome As well as diet and lifestyle changes, you may also wish to try medicines and talking therapies. The treatments you’re offered will depend on your particular symptoms and what’s causing them. [bupa.co.uk]
This may be carried out in hospital if the above treatments don't work. [nhs.uk]
After six months, 85% of the Fitnet group said they had no severe fatigue, compared with 27% in the standard treatment group. [bbc.co.uk]
Treatment is warranted because of severe complications secondary to hypertension. Surgery remains the treatment of choice, but with effective antihypertensive drug treatment, surgery can be postponed to an appropriate age. [vasculardiseasemanagement.com]
treatment and 47.7% were treated with low molecular weight heparin. [acrabstracts.org]
Prognosis
Information on the treatment and prognosis of Sweet syndrome and an overview of other neutrophilic dermatoses are available separately. [uptodate.com]
Worsening renal function and prognosis in heart failure: systematic review and metaanalysis. J Card Fail. 2007;13:599-608. Medline 25. Klein L, Massie BM, Leimberger JD, O’Connor CM, Piña IL, Adams KF, et al, OPTIME-CHF Investigators. [revespcardiol.org]
Long-term prognosis of patients with West syndrome in Japan: medical aspects. Brain Dev. 2001;23(7):692-4.Appleton RE. West syndrome: long-term prognosis and social aspects. Brain Dev. 2001;23(7):688-91.Riikonen R. [malattierare.regione.veneto.it]
Signs of poor prognosis are syncope, elevated right-sided pressures, and hypoxemia. [emedicine.medscape.com]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
As a result, some authors divide Sweet syndrome into three subtypes based upon etiology: ● Classical Sweet syndrome ● Malignancy-associated Sweet syndrome Literature review current through: Dec 2017. | This topic last updated: Sep 29, 2017. [uptodate.com]
Some investigators turn to studies on the relationship of insulin resistance to the etiology of atherosclerosis ( 133 – 136 ) and to the underlying etiology of type 2 diabetes ( 137 ) as evidence that insulin resistance is the more important abnormality [care.diabetesjournals.org]
Middle aortic syndrome: Distal thoracic and abdominal coarctation, a disorder with multiple etiologies. J Am Coll Surg 2002;194:774–781. 4. Sethna CB, Kaplan BS, Cahill AM, et al. Idiopathic mid-aortic syndrome in children. [vasculardiseasemanagement.com]
(See Etiology, Treatment, and Medication .) Cardiac arrhythmias and sudden cardiac death are important late complications of this syndrome. [emedicine.medscape.com]
Epidemiology
European Journal of Epidemiology 19, 803 – 809 Bjorntorp, P ( 1999 ) Neuroendocrine perturbations as a cause of insulin resistance. [cambridge.org]
The epidemiology, clinical features, and diagnosis of Sweet syndrome will be discussed here. Information on the treatment and prognosis of Sweet syndrome and an overview of other neutrophilic dermatoses are available separately. [uptodate.com]
PALATINI, PAOLO ; CASIGLIA, EDOARDO ; HYPERTENSION Hypertension 13 Adult height and the risk of cause-specific death and vascular morbidity in 1 million people: individual participant meta-analysis. 2012 CASIGLIA, EDOARDO ; INTERNATIONAL JOURNAL OF EPIDEMIOLOGY [research.unipd.it]
RESEARCH AREAS: – Genetic epidemiology; the determination of genetics risk factors for metabolic syndrome and coronary heart diseases in adult Turkish population. [deneyseltip.istanbul.edu.tr]
View Article PubMed Google Scholar Criqui MH: Response bias and risk ratios in epidemiologic studies. Am J Epidemiol. 1979, 109: 394-399. [bmcendocrdisord.biomedcentral.com]
Pathophysiology
The pathophysiological mechanisms responsible for CRS type 1 are complex, multifactorial and not entirely understood. [revespcardiol.org]
Insulin resistance may simply be one of many abnormalities linked to a more fundamental, truly unifying pathophysiology. [care.diabetesjournals.org]
Schrier RW, Fassett RG, Ohara M, Martin PY (1998) Pathophysiology of renal fluid retention. Kidney Int Suppl 67:S127–S132 PubMed CrossRef 5. [springermedizin.at]
Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]
Prevention
Period of Purple Crying Program The Period of Purple Crying Program applies 50 years of research on normal infant crying to an evidence-based Shaken Baby Syndrome prevention program which includes literature and videos. [elpasochildrensfoundation.org]
Preventing further episodes Techniques and treatments that can help prevent episodes include: Lifestyle changes – if your episodes are triggered by things such as strenuous exercise or alcohol, avoiding these may help. [nhs.uk]
This may mean later surgeries, or more stents and medications to try to prevent future ACS. Learn more about heart health: Diet and heart health basics » Advances in treatments and medication have improved the outlook for ACS. [healthline.com]
Some of the top foods to heal and prevent metabolic syndrome include: 1. [draxe.com]
The gene abnormality prevents nerve cells in the brain from working properly. Almost all people with Rett syndrome have no history of the disorder in their family, and the mutation has happened spontaneously. [rettuk.org]