Presentation
Inotropic support may be required if cor pulmonale is present. Pharmacological implications Avoid drugs with predominantly renal elimination in the presence of renal insufficiency. [accesspediatrics.mhmedical.com]
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]
We present new measurements of the temperature–density (T–ρ) relation for neutral hydrogen in the 2.0 < z < 2.8 intergalactic… Objectives To evaluate outcomes following implementation of a checklist with criteria for switching from intravenous (iv) to [semanticscholar.org]
Mild pulmonary valvular stenosis was present in five and a ventricular septal defect in one. [ahajournals.org]
Congenital absence of upper arm and forearm with hand present GARD:0012124 ! Macrophage activation syndrome Orphanet:158061 ! Macrophage activation syndrome GARD:0012133 ! Nodding syndrome MESH:D064128 ! Nodding Syndrome GARD:0012138 ! [github.com]
Entire Body System
- Epilepsy
PMID: 35509048Free PMC Article Boyce D, McGee S, Shank L, Pathak S, Gould D Epilepsy Behav 2021 Dec;125:108365. Epub 2021 Nov 1 doi: 10.1016/j.yebeh.2021.108365. [ncbi.nlm.nih.gov]
Infant epilepsy with migrant focal crisis Orphanet:1943 ! Infant epilepsy with migrant focal crisis GARD:0003033 ! Isosporiasis DOID:2112 ! cystoisosporiasis GARD:0003040 ! Jaffer Beighton syndrome MESH:C537561 ! [github.com]
[…] syndrome + Ehlers-Danlos syndrome + electroclinical syndrome + Elliott Ludman Teebi Syndrome Ellis Yale Winter Syndrome Ellis-Van Creveld syndrome + Emanuel Syndrome empty sella syndrome + endocrine-cerebro-osteodysplasia syndrome enhanced S-cone syndrome Epilepsy [rgd.mcw.edu]
- Short Stature
Symptoms * Infant feeding problems * Narrow pulmonary aorta * Malabsorption * Chronic diarrhea * Enlarged ureter * Short stature * High blood pressure * Auricular septal defect Causes Predisposing factors include cigarette smoking, recurrent or chronic [checkorphan.org]
[…] bowel syndrome short QT syndrome + Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity Syndrome SHORT Syndrome shoulder impingement syndrome Shprintzen Omphalocele Syndrome [rgd.mcw.edu]
Microdontia hypodontia short stature MESH:C537553 ! Microdontia hypodontia short stature GARD:0003655 ! Microsporidiosis DOID:4271 ! microsporidiosis GARD:0003670 ! Milner Khallouf Gibson syndrome MESH:C537473 ! [github.com]
- Fever
Marburg hemorrhagic fever DOID:12287 ! Crimean-Congo hemorrhagic fever GARD:0009444 ! Marburg hemorrhagic fever DOID:4327 ! Marburg hemorrhagic fever GARD:0009445 ! Reactive angioendotheliomatosis Orphanet:100057 ! [github.com]
Hashimoto-Pritzker Syndrome Haspeslagh Fryns Muelenaere Syndrome HEART AND BRAIN MALFORMATION SYNDROME Heart Defects Limb Shortening Hecht Scott Syndrome Hecht Syndrome HELIX syndrome HELLP syndrome hemolytic-uremic syndrome + Hemoptysis hemorrhagic fever [rgd.mcw.edu]
- Pulmonary Valve Stenosis
Familial primary pulmonary hypoplasia GARD:0004594 ! Pulmonary supravalvular stenosis Orphanet:3192 ! Supravalvular pulmonary stenosis GARD:0004596 ! Pulmonary valve stenosis DOID:6420 ! pulmonary valve stenosis GARD:0004597 ! [github.com]
Gastrointestinal
- Vomiting
Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder factitious disorder + Failed Back Surgery Syndrome Familial Antiphospholipid Syndrome Familial Cyclic Vomiting [rgd.mcw.edu]
Cardiovascular
- Heart Failure
Prognosis - Kashani Strom Utley syndrome This disease has been described in two sisters to date, one of whom died at 3 years of age due to heart failure. Treatment - Kashani Strom Utley syndrome Resources - Kashani Strom Utley syndrome [checkorphan.org]
Clinical aspects Diffuse hypoplasia of the pulmonary arteries and the ascending aorta resulted in progressive right heart failure, systemic hypertension, chronic malabsorption, and failure to thrive. [accesspediatrics.mhmedical.com]
Heart failure DOID:6000 ! congestive heart failure GARD:0011941 ! Stroke DOID:6713 ! cerebrovascular disease GARD:0011942 ! Diabetes mellitus type 2 DOID:9352 ! type 2 diabetes mellitus GARD:0011942 ! Diabetes mellitus type 2 OMIM:125853 ! [github.com]
- Heart Disease
Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. [books.google.de]
Heart disease DOID:114 ! heart disease GARD:0011948 ! Chronic obstructive pulmonary disorder DOID:3083 ! chronic obstructive pulmonary disease GARD:0011949 ! Dystonia DOID:0050835 ! generalized dystonia GARD:0011949 ! Dystonia DOID:543 ! [github.com]
Treatment
Treatment Treatment is designed to relieve symptoms and prevent complications. [checkorphan.org]
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
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]
Prognosis
Prognosis - Kashani Strom Utley syndrome This disease has been described in two sisters to date, one of whom died at 3 years of age due to heart failure. Treatment - Kashani Strom Utley syndrome Resources - Kashani Strom Utley syndrome [checkorphan.org]
PMID: 35482994 Prognosis Stiermaier T, Walliser A, El-Battrawy I, Pätz T, Mezger M, Rawish E, Andrés M, Almendro-Delia M, Martinez-Sellés M, Uribarri A, Pérez-Castellanos A, Guerra F, Novo G, Mariano E, Musumeci MB, Arcari L, Cacciotti L, Montisci R, [ncbi.nlm.nih.gov]
Etiology
Etiology Arch Esp Urol 2022 Jun;75(5):382-399. doi: 10.56434/j.arch.esp.urol.20227505.56. PMID: 35983808 Ding L, Xie LL, Zhang H, Ding J, Li J, Wang S, Mao J, Zhou Q Ann Palliat Med 2022 Jul;11(7):2432-2442. doi: 10.21037/apm-22-563. [ncbi.nlm.nih.gov]
Prevention
Prevention - Kashani Strom Utley syndrome Cannot be prevented. Diagnosis - Kashani Strom Utley syndrome A heart murmur may be evident. Chest x-rays and EKGs may then be performed to diagnose heart problems. [checkorphan.org]
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]