Presentation
While Young syndrome more often presents in males, CF presents equally in either sex. [ncbi.nlm.nih.gov]
Here we present a rare case of GBS presenting as hemiparesis mimicking a stroke. [clinical-medicine.panafrican-med-journal.com]
We present a case of 30 year old make who presented with recurrent sinopulmonary infection, with oligospermia and 100% immotile sperm and diagnosed as a Young's syndrome. [lungindia.com]
Cystic fibrosis patients also exhibit changes of the digestive tract, mainly pancreas, which are usually not present in Young's syndrome patients. [fertilitypedia.org]
Entire Body System
- Trisomy 21
Heredity is not a factor in trisomy 21 (nondisjunction) and mosaicism. [ndss.org]
Down syndrome (trisomy 21). In ML Batshaw et al., eds., Children With Disabilities, 7th ed., pp. 307–318. Baltimore: Paul H. Brookes Publishing. [healthy.kaiserpermanente.org]
Adjusting the risk for trisomy 21 by a simple ultrasound method using fetal long-bone biometry. Obstet Gynecol. 1996;87:953–8. 7. DeVore GR, Alfi O. [aafp.org]
The majority of children born with Down syndrome - 95% - have standard trisomy 21, that is, they have three rather than the usual two copies of chromosome 21 in every cell of their body. [library.down-syndrome.org]
- Constitutional Symptom
[…] bronchiectasis) Exacerbations of bronchiectasis from acute bacterial infections may produce the following signs: Increased sputum production over baseline Increased viscidity of sputum A foul odor of the sputum (occasional) Low-grade fever (rare) Increased constitutional [emedicine.medscape.com]
Constitutional symptoms that overlap with symptoms of ME/CFS are common in EDS. Fatigue and pain are substantial contributors to impaired quality of life in EDS ( 133, 134 ). [journal.frontiersin.org]
Cardiovascular
- Heart Disease
The myth that heart attacks are male diseases has been clearly dispelled, and we know now that cardiovascular (CV) diseases, including heart disease and stroke, are common and represent the number one killer of women in the United States and worldwide [circ.ahajournals.org]
Risk factors for SSS include: history of congenital heart disease (even with repairs, the heart is still weak) thyroid disease history sleep apnea disorder coronary artery disease: the coronary artery becomes clogged, and blood flow to the heart is restricted [healthline.com]
Oram Familial heart disease with skeletal malformations Br Heart J, 22 (1960), pp. 236-242 [2.] C.T. Basson, G.S. Cowley, S.D. Solomon, B. Weissman, A.K. Poznanski, T.A. [medintensiva.org]
disease—women with PCOS are at higher risk, and risk increases with age High blood pressure—which can damage the heart, brain, and kidneys High LDL (“bad”) cholesterol and low HDL (“good”) cholesterol—increasing the risk for heart disease Sleep apnea—a [cdc.gov]
Coronary artery disease prevention. Statpearls Treasure Island (Fl); 2020. 2. Nowbar AN, Gitto M, Howard JP, Francis DP, Al-Lamee R. Mortality from ischemic heart disease. [dovepress.com]
Skin
- Blister
The rash can form into blisters, and these blisters can form in areas such as the eyes, mouth and vaginal area. [skinassn.org]
Blisters may form on various external and internal mucous membranes of the body including the lining inside of the mouth (stomatitis), nose and genitals. Blisters can cause pain and lead to erosions and bleeding. [rarediseases.org]
Ears
- Hearing Impairment
Vertical line: Ear/hearing. Black square: Eye/vision. X: Thyroid. Upside-down black triangle: Musculoskeletal. [journals.plos.org]
Eyes
- Blurred Vision
Visually, children may complain of blurred vision at near and in the distance, sensitivity to light, double vision, or increased clumsiness due to objects not being noticed in a person’s side vision Anxiety and stress can affect vision in all persons. [youngeyes.com.au]
Characteristics of NPTS include: * a remarkable increase in heart rate after standing from a prone position * low or normal blood pressure * dizziness and blurred vision * fainting spells * chest pains and shortness of breath * chronic fatigue, anxiety [sciencedaily.com]
Some people have fainting warning signs first, including: Blurred vision Lightheadedness Pounding heartbeats (palpitations) Weakness Fainting occurs when the heart temporarily beats in an unorganized way. [mayoclinic.org]
Musculoskeletal
- Myalgia
GI symptoms, neck pain Fever, dyspnea, myalgia, GI symptoms Admission vital signs T 39.3C, BP 124/77 mm Hg, HR 123 bpm, 99% on RA T 36.3C, BP 114/67 mm Hg, HR 117 bpm, 99% on RA T 37.1C, BP 122/76 mm Hg, HR 105 bpm, 97% on RA T 37.8C, BP 91/60 mm Hg [ahajournals.org]
Some of the conditions where high titre of aCL has been found are Sneddon's syndrome,[19] Budd-Chiari syndrome,[20] Chronic hepatitis C,[21] eosinophilia myalgia and toxic oil syndrome.[22] Several therapeutic approaches including corticosteroids, immunosuppressives [neurologyindia.com]
Common types of pain include: headache, abdominal pain, myalgia, joint pain, sore throat, lymph nodes, eye pain and occasionally pelvic pain or dysuria ( 97, 98 ). [journal.frontiersin.org]
- Small Head
head which is flat at the back (microbrachycephaly) may be noticeable in some children with Angelman syndrome. [nhs.uk]
Neurologic
- Dizziness
New York, New York and Haifa, Israel, February 12, 2001 -- People who complain of repeated dizzy spells, elevated heartbeat, or fainting after standing up from a lying position will now have their concerns better addressed by doctors. [sciencedaily.com]
The transition from college to pro is even more drastic, as things start to move at a dizzying speed. Want to continue reading? Become a Free ALM Digital Reader. [law.com]
Symptoms include: chest pain difficulty breathing profuse sweating dizziness pain or discomfort in the upper body mental confusion or panics abdominal pain dizziness vomiting blackouts See your doctor as soon as possible if you’re experiencing any symptoms [healthline.com]
We recommend ECG screening if there have been any young sudden deaths in the family, or if a young person is suffering from symptoms of: Chest Pain (Exercise related) Breathlessness Palpitations Dizziness Fainting CRY offers subsidised screening (£50 [c-r-y.org.uk]
- Vertigo
[…] round face (plethora) Central obesity with weight gain centered over the chest and abdomen with thin arms and legs Excessive hair growth (hirsutism) on face, neck, chest, abdomen and thighs Female balding Generalized weakness and fatigue Blurry vision Vertigo [aans.org]
The vestibular apparatus, which is also located in the inner ear, can also be affected by the microvascular endotheliopathy of Susac’s syndrome, resulting in vertigo (dizziness). [rarediseases.org]
- Tremor
The symptoms of POTS include but are not limited to lightheadedness (occasionally with fainting), difficulty thinking and concentrating (brain fog), fatigue, intolerance of exercise, headache, blurry vision, palpitations, tremor and nausea. [hopkinsmedicine.org]
Workup
Results of standard workup of a case of stroke in young and special investigations are highlighted in [Table I]. Out of the 7 cases tested positive for aCL, three had mild elevation, while four revealed moderate elevation of antibodies. [neurologyindia.com]
If the patient responds inconsistently or does not respond to the oral medications, additional workup should be considered, dependent on the additional history provided. [tau.amegroups.com]
Vaccination against the flu, rabies, and meningitis are also documented precipitating factors that have been reported. [1] The diagnosis of GBS is typically based on the presence of a progressive ascending weakness with areflexia (see Workup). [emedicine.medscape.com]
Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol (2011) 4:10. doi:10.1186/1756-8722-4-10 PubMed Abstract | CrossRef Full Text | Google Scholar 146. [journal.frontiersin.org]
Treatment
Management and treatment Patient management involves prompt treatment of sinus and pulmonary infections and fertility treatment options include vasoepididymostomy and intracytoplasmic sperm injection (ICSI). [orpha.net]
While there is no one treatment for Young syndrome, management involves treatment of sinus and lung infections. [rarediseases.info.nih.gov]
Do Not Do Recommendation Adjunctive treatment in children, young people and adults with Lennox–Gastaut syndrome Do not offer carbamazepine, gabapentin, oxcarbazepine, pregabalin, tiagabine or vigabatrin. [nice.org.uk]
0.288 Currently rhGH treatment 1.333 (0.248–7.165) 0.737 1.323 (0.237–7.391) 0.749 Dyslipidemia Non-rhGH treatment Ref 0.647 Ref 0.447 History of rhGH treatment 0.429 (0.068–2.684) 0.365 0.258 (0.032–2.094) 0.205 Currently rhGH treatment 0.600 (0.152 [mdpi.com]
Prognosis
While the short-term prognosis of these young patients is relatively good as they have less comorbidities, the long-term prognosis might be unfavorable. [dovepress.com]
Group 2 had a worse prognosis, with greater occurrence of heart failure (p<0.001) and death (p=0.047) during hospitalization. [academic.oup.com]
Signs and symptoms, pathology, pathogenesis, etiology, course and prognosis, and treatment are discussed. Evidence is preponderantly in favor of the etiology in all cases being nematode larvae invasions of the liver and other viscera. [pediatrics.aappublications.org]
Once bronchiectasis is established, prognosis worsens significantly. [patient.info]
However, young patients diagnosed with early-stage tumours did have a significantly better prognosis compared with early-stage tumours in the older age group. [bmjopen.bmj.com]
Etiology
Signs and symptoms, pathology, pathogenesis, etiology, course and prognosis, and treatment are discussed. Evidence is preponderantly in favor of the etiology in all cases being nematode larvae invasions of the liver and other viscera. [pediatrics.aappublications.org]
Etiology The aetiology is unknown. [orpha.net]
If those medications are effective, you have effectively ruled out significant arterial insufficiency or venous leakage disease as an etiology. [tau.amegroups.com]
Incidence is on the decline lending credence to the etiological factor of exposure to mercury. [sites.google.com]
Etiology[1] Variety of etiologies and detailed history is important in narrowing the differential diagnosis. [eyewiki.aao.org]
Epidemiology
Summary Epidemiology The prevalence is unknown but the syndrome is very rare. Clinical description Spermatogenesis is normal but azoospermia results from obstruction of the epididymides by thickened secretions. [orpha.net]
Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst. 1969;43(6):1365-13735396222 PubMed Google Scholar 4. Fletcher CDM, Akerman M, Dal Cin P, et al. [jamanetwork.com]
Restless Legs Syndrome Diagnosis and Epidemiology workshop at the National Institutes of Health; International Restless Legs Syndrome Study Group. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. [passeportsante.net]
Epidemiology and medical statistics. In: Rao CR, Miller JP, Rao DC, editors. Handbook of statistics 27. Amsterdam: Elsevier; 2008. p. 1912. 13. [paediatricaindonesiana.org]
Pathophysiology
Primary ciliary dysfunction causes recurrent sino-pulmonary infections and shares the pathophysiology of the reproductive tract. A 34-year old man with bronchectasis and situs inversus totalis was investigated because of azoospermia. [dx.doi.org]
Giembycz Springer, 06.12.2012 - 237 Seiten Continuing the Respiratory Pharmacology and Pharmacotherapy series, this volume explores the pathophysiology and therapy of rhinitis. [books.google.de]
Many of these men will see multiple urologists on their quest to find a pathophysiology that they can accept, and many have unrealistic expectations of a rapid cure or a surgical cure. [tau.amegroups.com]
A pathophysiologic mechanism, similar to that noted in our case, has been reported in a Korean case of painless moving toes syndrome. [e-jsm.org]
Prevention
Editorial Reviews From Publishers Weekly Named for the Austrian pediatrician who first described it, Asperger Syndrome (AS) is a form of autism that often prevents children from understanding how to interact socially with their peers. [amazon.com]
Prevention Regular health checkups and good communication with your health care provider may help prevent health conditions that lead to some types of acquired long QT syndrome. [mayoclinic.org]
For arterial events, recurrences also are prevented with drugs that inhibit platelets, such as aspirin and clopidogrel ( Plavix ). [rheumatology.org]