Presentation
Acronym SHNS Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Classification level: Disorder Synonym(s): Shaheen syndrome Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q82.8 OMIM: 615328 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]
Scarcity of water for irrigation is an alarming issue limiting crop production worldwide and is becoming increasingly severe with… Expand The aim of the present investigation was to assess the ameliorative effect of nitric oxide on some salt stressed [semanticscholar.org]
Given the atypical presentation of the patient, this case helped in the phenotypic expansion of the disorder. [cags.org.ae]
Entire Body System
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Disability
Homepage Rare diseases Search Search for a rare disease Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Disease definition Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [orpha.net]
Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013). [ncbi.nlm.nih.gov]
Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. [uniprot.org]
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Hyperthermia
[…] hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia [orpha.net]
The condition can result in episodic hyperthermia. In some cases, mild microcephaly may develop. The disorder has an onset at birth. So far, only 3 affected families have been identified, all originating from Saudi Arabia. [cags.org.ae]
Gastrointestinal
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Failure to Thrive
One patient, a 1-year-old male, suffered from a failure to thrive, global developmental delay, hiatus hernia, lung hypoplasia, congenital diaphragmatic hernia, low intestinal motility disorder and partial intestinal obstruction. [cags.org.ae]
[…] to thrive Falkner function Garn genetic groups growth and development growth curves hand-wrist head circumference height and weight heritability Human Biol Human Growth increase indicators individual intake length longitudinal study Malina maximum likelihood [books.google.de]
Skin
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Hyperkeratosis
Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013). [ncbi.nlm.nih.gov]
Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. [uniprot.org]
[…] intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis [orpha.net]
Neurologic
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Delayed Speech and Language Development
speech and language development ... ... [familydiagnosis.com]
Workup
Stevens-Johnson syndrome: differential diagnosis and workup. February 19, 2010. Available at: . Accessed June 15, 2011. Google Scholar 3. Plaza, JA, Prieto, VG. Erythema multiforme. June 3, 2010. Available at: . Accessed June 15, 2011. [journals.sagepub.com]
[…] characteristics of the disease to be as follows [13] : Cystic kidneys (97.7%) Polydactyly (87.3%) Encephalocele (83.8%) Fibrotic/cystic changes of the liver (65.5%, as identified via postmortem examination) Other CNS anomalies (51.4%) Orofacial clefts (31.8%) Workup [emedicine.medscape.com]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
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]
Treatment of DM simultaneous with treatment of the breast cancer led to regression of DM. The diagnosis of DM in an adult should raise suspicion of an underlying malignancy. [mayoclinic.pure.elsevier.com]
Aside from treatment, one team member mentioned that it is important to look at things before treatment like trauma mental health issues in order to try to prevent substance abuse. [newhampshirelakesandmountains.com]
Prognosis
Due to the limited number of reported cases, information on the condition’s prognosis or prevalence is yet to be ascertained. The condition is diagnosed based on genetic analysis of the Component of Oligomeric Golgi Complex 6 (COG6) gene. [cags.org.ae]
(Outcomes/Resolutions) The prognosis of Donnai-Barrow Syndrome is determined by the type and severity of the signs and symptoms. [dovemed.com]
The aim of this study was to identify panels of disease-specific /disease-associated proteins biomarkers to be used for more objective diagnosis and better prediction of disease prognosis of patients presenting with features of bone marrow failure syndromes [bloodjournal.org]
In general, the prognosis is reported to be good, with improvement in laboratory results over 48-72 hours after delivery [8]. We are reporting here seven cases that fulfilled the criteria of HELLP syndrome. [sjkdt.org]
In contrast, cases of HES with myeloproliferative features, particularly those with FIP1 L1/PDGFRA mutation, should be treated aggressively, as they carry worse prognosis without treatment. [najms.org]
Etiology
[…] citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex Close search input Search input auto suggest search filter Abstract Background HLH is an under-estimated and under-reported syndrome with diverse etiologies [ashpublications.org]
Etiologies include adh-producing neoplasms, injuries or diseases involving the hypothalamus, the pituitary gland, and the lung. This syndrome can also be drug-induced. [icd10data.com]
Etiologic considerations in superior vena cava syndrome. Mayo Clin Proc 1981;56:407. [ PUBMED ] 2. Escalante C. Causes and management of superior vena cava syndrome. Oncology 1993;7: 61-8. 3. Aurora R, Milite F, Vander Els N. [sjkdt.org]
Linnemann B, Schmidt H, Schindewolf M et al (2008) Etiology and VTE risk factor distribution in patients with inferior vena cava thrombosis. Thromb Res 123:72–78 CrossRef Google Scholar 4. [link.springer.com]
Another proposed etiology of AOS includes abnormal pericyte recruitment, supported by a mouse model in which ALK1-deficient mice show poor migration, recruitment, and proliferation of pericytes. [dermatologyadvisor.com]
Epidemiology
Levenick 22 Epidemiology of Diverticular Disease, 249 Robin Spiller & David Humes 23 Epidemiology of Infectious Diarrhea, 262 Christina M. Surawicz & Crenguta Stepan 24 Epidemiology of Inflammatory Bowel Disease, 273 Edward V. [euro-libris.ro]
She has a unique experience in epidemiology and survey research methods. [people.ctsi.ucla.edu]
After training in general medicine he joined the MRC Environmental Epidemiology Unit in Southampton as a Wellcome Trust Training Fellow in Clinical Epidemiology. [qmul.ac.uk]
The intention of this review is to provide a brief overview of the fundamental issues of epidemiological interest relating to IBS. [dovepress.com]
Evidence that multiple vaccinations during deployment are to blame is inconclusive Seif Shaheen, senior lecturer in clinical epidemiology ([email protected]) Department of Public Health Sciences, Guy's, King's and St Thomas's School of Medicine, [bmj.com]
Pathophysiology
Second, we acknowledge our imperfect understanding of the pathophysiology of ACS. [onlinejets.org]
The syndrome is most certainly underrecognized, and delays in diagnosis are due to atypical presentations or cases in which the diagnosis is not part of the differential. [3, 4, 5, 6, 24] Pathophysiology The true pathophysiologic mechanisms of this condition [emedicine.medscape.com]
Pathophysiology Many genes have been implicated in the development of AOS. [dermatologyadvisor.com]
[…] thrombosis. [5] Post-Partum Hemorrhaging (PPH) is believed to be a predictor of Sheehan’s syndrome, so factors that may increase the chance of PPH such as: anaemia, obesity, and advanced maternal age) may increase the risk of Sheehan's Syndrome. [5] Pathophysiology [en.wikipedia.org]
Prevention
JACC: CardioOncology JACC: Cardiovascular Imaging JACC: Cardiovascular Interventions JACC: Case Reports JACC: Clinical Electrophysiology JACC: Heart Failure Issues Current Articles in Press Archives Topics Multimedia Podcasts Cardiology Hour Guidelines Prevention [onlinejacc.org]
“There is still tremendous uncertainty surrounding the circumstances that led to these injuries, but that should in no way prevent our government from caring for those who have sacrificed so much in the line of duty,” Democratic Senator Jeanne Shaheen [hearingreview.com]
“There is still tremendous uncertainty surrounding the circumstances that led to these injuries, but that should in no way prevent our government from caring for those who have sacrificed so much in the line of duty,” said Democratic Senator Jeanne Shaheen [reuters.com]
Click here to view The patient was treated with anticoagulant therapy, which was not successful to prevent the SVC obstruction. Also, because of the chronic onset and severe complaints, it was very late to use thrombolytic therapy. [sjkdt.org]