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]

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]

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]

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]

• 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]

  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. [emedicine.medscape.com]

• Lesion of the Tongue

  The autopsy was negative, except for a minor lesion of the tongue. This case history presents typical features of what may be called "dead-in-bed syndrome." [journal.diabetes.org]

• Anterior Knee Pain

  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]

• Nasal Speech

  However, her cleft palate made it difficult to pronounce certain words and caused her to have hyper nasal speech, another key feature of this syndrome. [globalgenes.org]

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]

• Neurofibrillary Tangle

  the beginnings of neurofibrillary tangles), or preceding psychological stressors (Prasher, 2002; Capone et al., 2006; Worley et al., 2015). Such circumstances may be a result of an unclear understanding of the mechanism of deterioration. [frontiersin.org]

• Liver Biopsy

  Abstract Attention is directed to the existence of a recently recognized syndrome in infants and young children with the prominent features of chronic eosinophilia, hepatomegaly, liver biopsy findings of eosinophilic infiltrative and granulomatous lesions [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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [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]

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]

Bronchiectasis, a study of prognosis based on a follow-up of 400 patients. Am Rev Tuber. 1941. 40:53. Ellis DA, Thornley PE, Wightman AJ, Walker M, Chalmers J, Crofton JW. [medscape.com]

Etiology The aetiology is unknown. [orpha.net]

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]

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]

The azoospermia is due to functional obstruction of sperm transportation down the epididymis.[2] Etiology The exact cause of Young syndrome is not known, but in addition to a genetic cause, some researchers speculate that it could be due to mercury exposure [ncbi.nlm.nih.gov]

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]

Epidemiology and medical statistics. In: Rao CR, Miller JP, Rao DC, editors. Handbook of statistics 27. Amsterdam: Elsevier; 2008. p. 1912. 13. [paediatricaindonesiana.org]

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]

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. [dx.doi.org]

The wide variety of pathophysiological findings has led to multiple hypotheses for etiology. [journal.frontiersin.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]

Sudden death syndrome in young males following police detention and general adaptation syndrome in animals may share the same pathophysiological mechanism. [revespcardiol.org]

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]

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

It is important to diagnose the disorder promptly to prevent complications and close follow up of the patient is essential. It is also highly advised to provide genetic counseling to other family members. [ncbi.nlm.nih.gov]

The patients with APLAS should remain on life long anticoagulants to prevent recurrences. [neurologyindia.com]