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ADULT Syndrome

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome


Presentation

  • Clinical jaundice, distinctly uncommon in RS, was present in only one patient who presented to us in stage V coma.[jamanetwork.com]
  • PFT showed obstructive defects in varied degrees. 12 In this present study, there was obstruction in 4 patients and restriction in 1 patient on spirometric examination. Hypoxemia was not present in any patient as determined via pulse oximeter.[rc.rcjournal.com]
  • Beth Jordan, M.Ed., CRC presents a breakout session on Saturday July 30, 2011 at the 10th International CHARGE Syndrome Conference and outlines support services, employment and housing options.[chargesyndrome.org]
  • Most patients with CCHS present during the newborn period.[jcsm.aasm.org]
  • By explaining the varied presentation in the girl as a clinical expression of a genetic defect, unnecessary medical expenditure on the parents could have been avoided.[ncbi.nlm.nih.gov]
Malingering
  • In 1977, Meadow described the first case in which a caregiverperpetrator deliberately produced physical symptoms in a child for proxy gratification. [ 2 ] Unlike malingering, in which external incentives drive conscious symptom falsification, Munchausen[journalofhospitalmedicine.com]
Cyanosis
  • Eisenmenger syndrome is at the extreme end with regards to the severity of PAH and the degree of cyanosis [ 2 ].[err.ersjournals.com]
  • […] pulmonary hypertension, or polycythemia following stressors such as viral illness, pneumonia, or exposure to anesthesia. 1, 8 Thus, in these age groups, the diagnosis of CCHS should be considered in cases of unexplained alveolar hypoventilation, apnea, cyanosis[jcsm.aasm.org]
Vascular Disease
  • In cases of non-Reye's encephalopathy, drug ingestion presented as one of the most difficult differential diagnostic problems, which also included alcohol abuse, collagen vascular disease, and hepatitis B surface antigenemia.[jamanetwork.com]
  • As pulmonary vascular disease progresses, the pressure difference between the great vessels falls progressively, and so does the intensity of the murmur.[err.ersjournals.com]
Palpitations
  • However, SDS can cause the following red-flag symptoms: chest pain, especially during exercise loss of consciousness difficulty breathing dizziness heart palpitations or fluttering feeling unexplained fainting, especially during exercise If you or your[healthline.com]
Myopathy
  • It is plausible that in certain WPW patients that the pathway is part of a syndrome that also consists of an atrial myopathy.[ahajournals.org]
Alopecia
  • Alopecia involving frontoparietal scalp with preserved hairline. Dry scaly skin noted along with excessive freckling (arrowheads), (a).[ncbi.nlm.nih.gov]
  • Dermatological diseases Atopic dermatitis, vitiligo, alopecia areata, fungal infections of the skin and nails, seborrhoeic eczema and dry skin are more prevalent in persons with Down syndrome than in the general population ( 15, 21 ).[tidsskriftet.no]
  • Dermatological Children and Adults: Dry skin, atopic dermatitis, seborrheic dermatitis, chelitis, impetigo, and alopecia areata are more common than in general population Examine skin as part of routine care Treat as per general population, with referral[iddtoolkit.vkcsites.org]
Blonde Hair
  • Born with blonde hair and blue eyes at 7 lbs, 5 ounces, Chris was a happy baby. As their firstborn, he was the child the Hebeins longed for–but right away, they were informed of a diagnosis that would shape their lives instantly.[advocategiving.org]
Freckles
  • Bald scalp also showed increased freckling and xerosis [ Figure 1a : arrowheads]. Freckling was also noted in photo distribution.[ncbi.nlm.nih.gov]
Eczema
  • Dermatological diseases Atopic dermatitis, vitiligo, alopecia areata, fungal infections of the skin and nails, seborrhoeic eczema and dry skin are more prevalent in persons with Down syndrome than in the general population ( 15, 21 ).[tidsskriftet.no]
Sparse Hair
  • History revealed sparse hair growth over the scalp since childhood. There was no history of local trauma, drug intake, or any stress prior to the illness.[ncbi.nlm.nih.gov]
Auditory Hallucination
  • However, there is a relatively high incidence, in women in particular, of unspecified psychoses characterised by a low level of aggression, but a high level of visual and auditory hallucinations ( 40 ).[tidsskriftet.no]

Workup

  • On the basis of this analysis and on our previous experience on isolated wAIHAs, 21 we suggest that a minimal workup, including a chest and abdominal computed tomography scan should be performed in every patient diagnosed with ES (see Table 5 for proposals[ashpublications.org]
Staphylococcus Aureus
  • Table 4 Causes of deaths, n 16 Causes of death n Infection 7 Septic shock (n 6) due to Staphylococcus aureus (1), Pseudomonas aeruginosa (1), * unknown bacteria (4) † ; one patient with a prior history of stroke had a fatal aspiration pneumonia Cancer[ashpublications.org]
Liver Biopsy
  • Liver biopsy can be performed safely and is usually mandatory in adults. Patients with RS diagnosed during stage I or II coma and treated experienced an uneventful recovery. ( Arch Intern Med 1987;147:61-64)[jamanetwork.com]

Treatment

  • Treatment with VKA is recommended over treatment with LDA only.[ard.bmj.com]
  • ); pharmacological treatment (one study ) and combination treatment (one study ).[cochrane.org]
  • Treatment at NYU Langone Doctors at NYU Langone may approach mild symptoms of Marfan syndrome with watchful waiting, in which symptoms are observed for changes that may require treatment.[nyulangone.org]
  • Treatment When a specific cause for testosterone deficiency can be identified, treatment can be focused on that cause.[urmc.rochester.edu]
  • The UC San Diego Down Syndrome Center for Research and Treatment is one of the first programs in the country to connect academic research with the treatment of Down syndrome for adults with cognitive issues.[health.ucsd.edu]

Prognosis

  • A cut-off BNP value of 100 pg·mL 1 ( 30 pmol·L 1 ) has been suggested as a marker of adverse prognosis. Increases in BNP concentration over time have also been found to be of prognostic significance.[err.ersjournals.com]
  • Prognosis The prognosis for Leigh’s Disease is poor. Depending on the defect, individuals typically live anywhere from a few years to the mid-teens.[umdf.org]
  • Clinical features and prognosis of adult-onset Still's disease: 75 cases from China. International Journal of Clinical and Experimental Medicine. 2015;8:16634. Exercise and arthritis. American College of Rheumatology. . Accessed Jan. 7, 2016.[mayoclinic.org]

Etiology

  • Unilateral bronchiolitis obliterans with hyperinflation is quite rare, with a prevalence of 0.01% in 17,450 surveyed chest radiographs. 7 It is presently considered to be an acquired disease secondary to viral bronchiolitis and pneumonitis in childhood etiology[rc.rcjournal.com]
  • References References 1 Primary thrombocytopenic purpura and acquired haemolytic anemia; evidence for a common etiology., Arch Int Med, 1951, vol. 93 1 (pg. 341 - 344 ) 2 Acquired hemolytic anemia; the relation of erythrocyte antibody production to activity[ashpublications.org]
  • Irrespective of the etiology, sleep difficulties impair the ability of a child or adult with Down syndrome to maintain alertness and attention during the day, as well as maintain better control, e.g., frustration tolerance.[ndss.org]
  • It is therefore urgent to understand the trends in metabolic syndrome prevalence with the goal of identifying etiologic factors that are subject to public health intervention strategies.[cdc.gov]
  • Also, as is known, Down syndrome is not an homogeneous entity at the cytogenetic and etiological level. Standard trisomy 21 (ST21) represents approximately 97% of the cases.[library.down-syndrome.org]

Epidemiology

  • […] articles Impedance manometry Rome III classification rumination :: Article in PDF (82 KB) :: Citation Manager :: Access Statistics :: Reader Comments :: Email Alert * :: Add to My List * * Registration required (free) IN THIS Article :: Abstract :: Epidemiology[jpgmonline.com]
  • Membranous nephropathy and cancer: Epidemiologic evidence and determinants of high-risk cancer association. Kidney Int. 2006 Oct. 70(8):1510-7. [Medline]. Wong W.[medscape.com]
  • Top Author Information Corresponding Author: Tomi Akinyemiju, PhD, Department of Epidemiology, University of Alabama at Birmingham School of Public Health, Birmingham, AL 35294-0022. Telephone: (205) 975-7651. Email: tomiakin@uab.edu.[cdc.gov]
  • The epidemiologic, clinical, and biologic data from every patient were collected by each investigator by using a standardized structured form and then reviewed and analyzed by the same investigator (M.M.).[ashpublications.org]
  • In 1 or 2% of the cases, depending on the epidemiological studies, the genetic error takes place during the second or the third cell division (mosaicism).[library.down-syndrome.org]
Sex distribution
Age distribution

Pathophysiology

  • Impedance manometry Rome III classification rumination :: Article in PDF (82 KB) :: Citation Manager :: Access Statistics :: Reader Comments :: Email Alert * :: Add to My List * * Registration required (free) IN THIS Article :: Abstract :: Epidemiology :: Pathophysiology[jpgmonline.com]
  • Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 2004;15:12–20. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009;17:3–13.[racgp.org.au]
  • Levamisole in Children with Idiopathic Nephrotic Syndrome: Clinical Efficacy and Pathophysiological Aspects. J Clin Med. 2019 Jun 16. 8 (6): [Medline]. [Full Text]. Sinha A, Puraswani M, Kalaivani M, Goyal P, Hari P, Bagga A.[medscape.com]
  • Better understanding of the pathophysiological mechanisms of APS will help to identify new therapeutic targets, and a balance between anticoagulation and immunomodulatory drugs for different APS manifestations.[ard.bmj.com]
  • Pooling more clinical and immunologic data in the future, throughout international working groups and networks will be helpful to learn more about ES pathophysiology and for refining therapeutic strategies.[ashpublications.org]

Prevention

  • New guidelines are presented regarding the prevention and management of patients at risk of developing TLS. The best management of TLS is prevention.[ascopubs.org]
  • If you do, you can take steps to prevent sudden death.[healthline.com]
  • Evaluation of the role of statins or coenzyme Q10 for primary thrombosis prevention. Secondary thrombosis prevention.[ard.bmj.com]
  • “By making a diagnosis, we can institute preventive therapies, whether lifestyle changes or medication.”[irishtimes.com]
  • While not advocating this measure, the authors suggest that doctors could do more to follow up suspected victims of domestic violence, not only to prevent them from being assaulted again, but also to protect their children and other family members. ##[eurekalert.org]

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