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]

Young syndrome requires differentiation from cystic fibrosis (CF) which can present with similar features. While Young syndrome more often presents in males, CF presents equally in either sex. [ncbi.nlm.nih.gov]

No family history of any mucocutaneous disorder was present. There was no history of any trauma prior to the pigmentation. General physical and systemic examination was normal. [idoj.in]

The documents contained in this web site are presented for information purposes only. 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]

Our patient was a 44-year-old man who started to present multiple cerebral venous sinus thrombosis of unknown origin at the age of 30. Smoking was the only risk factor he presented at the time of thrombosis. [elsevier.es]

• Recurrent Bronchitis

  Showing of 9 | 80%-99% of people have these symptoms Decreased fertility Abnormal fertility 0000144 Obstructive azoospermia 0011962 Recurrent bronchitis 0002837 Recurrent sinopulmonary infections Recurrent sinus and lung infections 0005425 30%-79% of [rarediseases.info.nih.gov]

• Chronic Infection

  These sequelae can include hearing loss, chronic infection, pneumonia, sepsis, endocarditis or congestive heart failure in infants with concomitant heart defects. [aafp.org]

  Bronchopulmonary sequestration is a congenital abnormality classified as either intralobar or extralobar and results in chronic lower respiratory tract infections that lead to bronchiectasis. [emedicine.medscape.com]

• Candidiasis

  It can lead to rampant dental caries, exacerbation of periodontal disease, or oral candidiasis. [journal.frontiersin.org]

• Sputum Production

  Of the 29 men with Young's syndrome, 27 had histories of recurrent cough and sputum production. The onset had occurred in early childhood, with frequent infections and loss of school time. [journals.lww.com]

  […] following signs: Increased sputum production over baseline Increased viscidity of sputum A foul odor of the sputum (occasional) Low-grade fever (rare) Increased constitutional symptoms (eg, fatigue, malaise) Increased dyspnea, shortness of breath, wheezing [emedicine.medscape.com]

  Effect of a short course of clarithromycin therapy on sputum production in patients with chronic airway hypersecretion. Chest. 2002 Jul. 122(1):213-8. [Medline]. Yalçin E, Kiper N, Ozcelik U, Dogru D, Firat P, Sahin A. [medscape.com]

• Productive Cough

  Signs and symptoms Clinical manifestations of bronchiectasis are as follows: Cough and daily mucopurulent sputum production, often lasting months to years (classic) Blood-streaked sputum or hemoptysis from airway damage associated with acute infection [emedicine.medscape.com]

• Anterior Knee Pain

  Syndrome; VAS- Visual Analogue Scale; AKPS- Anterior Knee Pain Syndrome; LEFS- Lower Extremity Functional Scale. [scielo.br]

• Foot Deformity

  […] or dislocation Foot deformities Formerly, radiographs of the flexed and extended cervical spine were recommended as screening tests for atlantoaxial instability when children with Down syndrome reach the age of two years or before they undergo general [aafp.org]

• Microscopic Hematuria

  Clinical manifestations may range from asymptomatic microscopic hematuria to severe pelvic congestion.10,11 Hematuria of the left ureteral orifice, in the absence of any other detectable condition should arouse suspicion.9 In our patient, cystoscopy failed [jbn.org.br]

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]

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]

• Pseudomonas

  Most had intermittent bronchial and sinus infections, but none was chronically colonized with Staphylococcus aureus or Pseudomonas aeruginosa. The FEV1 was normal or only mildly reduced in most patients (mean = 74%; range, 48 to 100% predicted). [ncbi.nlm.nih.gov]

  Inhaled tobramycin in non-cystic fibrosis patients with bronchiectasis and chronic bronchial infection with Pseudomonas aeruginosa. Ann Pharmacother. 2005 Jan. 39(1):39-44. [Medline]. Scheinberg P, Shore E. [medscape.com]

  The bronchiectasis in cystic fibrosis is generally progressive and characteristically colonized initially with staphylococcal pyogenes and later with pseudomonas, influetiza as disease progresses to respiratory failure. [lungindia.com]

• Toxocara Canis

  An analysis of 15 reported cases with the syndrome is presented, including the report of a case due to an unidentified nematode larva, but probably Toxocara canis, invading the liver. [pediatrics.aappublications.org]

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]

Most children cannot have treatment even though treatment improves their chance of recovery. Children tell us they just want to get better.” But Crawley knows the therapy will not please everyone. [theguardian.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]

Myxoid liposarcomas have a specific reciprocal translocation between chromosomes 12 and 16, which results in fusion of CHOP and FUS/TLS. 4 The prognosis for liposarcoma is poor, with 2 previous reports describing locally destructive recurrence and eventual [jamanetwork.com]

Clinical characteristics, demographics and prognosis of transient left ventricular apical ballooning syndrome.. Heart Fail Rev, 10 (2005), pp. 311-6 [6] Mafrici A, Proietti R, Fusco R, De Biase A, Klugmann S.. [revespcardiol.org]

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]

Incidence is on the decline lending credence to the etiological factor of exposure to mercury. [sites.google.com]

Etiology The aetiology is unknown. [orpha.net]

The basic etiology of Young's syndrome justified ultrastructurally in modern science a decreased cilliary motility, obstruction of secretions due to common defect of ciliated columnar epethelium. [lungindia.com]

Kihiczak et al report that KTWS may result from a pathogenic gene for vascular and tissue overgrowth. [8] Etiology Epidemiology Race No racial predilection is documented for Klippel-Trenaunay-Weber syndrome (KTWS). [reference.medscape.com]

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]

Circulation 2005; 112: 2735–2752. 10 Alberti KG, Zimmet P, Shaw J, IDF Epidemiology Task Force Consensus Group. The metabolic syndrome—a new worldwide definition. Lancet 2005; 366: 1059–1062. 11 Csábi G, Török K, Jeges S, Molnár D. [nature.com]

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. [doi.org]

Pathophysiology Pathophysiology is not well known. While it resembles Kartagener syndrome, it is still not clear if ciliary dysfunction is the primary abnormality. [ncbi.nlm.nih.gov]

Definition / general Permanent dilation of bronchi and bronchioles caused by destruction of mucosal and elastic tissues, caused by or associated with chronic necrotizing infection of bronchi and bronchioles Pathophysiology Obstruction (due to tumor, foreign [pathologyoutlines.com]

The nutcracker syndrome: new aspects of pathophysiology, diagnosis and treatment. J Urol 1991;146:685-8. 19. Hohenfellner M, D'Elia G, Hampel C, Dahms S, Thüroff JW. [jbn.org.br]

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]

For arterial events, recurrences also are prevented with drugs that inhibit platelets, such as aspirin and clopidogrel ( Plavix ). [rheumatology.org]

“By making a diagnosis, we can institute preventive therapies, whether lifestyle changes or medication.” [irishtimes.com]

Preventing sudden cardiac death in young adults. American College of Cardiology. https://www.cardiosmart.org/News-and-Events/2014/09/Preventing-Sudden-Cardiac-Death-in-Young-Adults. Accessed Dec. 15, 2016. Sudden cardiac death in athletes. [mayoclinic.org]