Presentation
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]
Patients present with marked edema, proteinuria, hypoalbuminemia, and often hyperlipidemia. [aafp.org]
Most individuals with Sjögren syndrome present with sicca symptoms, such as xerophthalmia (dry eyes), xerostomia (dry mouth), and parotid gland enlargement, which is seen in the image below. [1] (See Presentation .) [emedicine.medscape.com]
At present, we are investigating a family where this type of association has been found: the proband is a 46, XX fetus with no visible chromosomal anomaly; the father and his first daughter (now 5 years old) presented with isolated unilateral renal agenesis [ncbi.nlm.nih.gov]
The Chompret criteria (updated in 2015) (Bougeard et al., 2015) should be used to identify potential TP53 mutation carriers: Familial presentation: Proband with tumor belonging to LFS tumor spectrum (eg, premenopausal breast cancer, soft tissue sarcoma [p53.iarc.fr]
Entire Body System
- Epilepsy
The findings could have implications for other diseases, like glaucoma and epilepsy. ( In DS, the prevalence of patients with glaucoma was 11.5%, significantly higher [P = 0.014] than that in the Non-DS control group, 1.1%. ) Both conditions are caused [dsdaytoday.blogspot.com]
Eyes
- Strabismus
Clinical description C syndrome is a congenital disorder characterized by trigonocephaly, dysmorphic craniofacial features that include upslanting palpebral fissures, thick epicanthic folds, strabismus, depressed nasal bridge with short/thick nasal septum [orpha.net]
These children may have abnormalities of the outer ear, crossed eyes (strabismus), thin upper lip, smooth vertical groove between the base of the nose and the border of the upper lip (philtrum),an undersized jaw (micrognathia), a short neck and loose [rarediseases.org]
Workup
There are no established guidelines on the diagnostic workup or management of nephrotic syndrome. [aafp.org]
(See Workup .) Treatment for Sjögren syndrome is largely based on symptoms (eg, lotion for dry skin, artificial tears for dry eyes). [emedicine.medscape.com]
Treatment
C 16 Corticosteroid treatment has no proven benefit, but is recommended by some physicians for persons with nephrotic syndrome who are not responsive to conservative treatment. [aafp.org]
To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. [deccanchronicle.com]
Treatment of the thoracic outlet syndrome can usually be successful with conservative measures. Treatments include a variety of exercises that effectively stretch open the tissues of the thoracic outlet. [medicinenet.com]
Methods: In a double-blind, prospective, multicenter trial, 416 patients with 427 wrist fractures were randomly allocated to treatment with placebo or treatment with 200, 500, or 1500 mg of vitamin C daily for fifty days. [journals.lww.com]
Current and emergent pharmacologic treatments for irritable bowel syndrome with diarrhea: Evidence-based treatment in practice. Therapeutic Advances in Gastroenterology. 2017;10:253. Wald A. [mayoclinic.org]
Prognosis
Prognosis Sjögren syndrome carries a generally good prognosis. In patients who develop a disorder associated with Sjögren syndrome, the prognosis is more closely related to the associated disorder (eg, SLE, lymphoma). [emedicine.medscape.com]
Etiology
Etiology The etiology of C syndrome is still unknown. Genetic counseling Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. [orpha.net]
This condition is similar but distinct from MRKH syndrome (see Etiology section) and may therefore lead to confusion. [ncbi.nlm.nih.gov]
The etiology of Sjögren syndrome is not well understood. [emedicine.medscape.com]
Epidemiology
Summary Epidemiology The prevalence has been estimated to be between 1/800,000 and 1/1,000,000. Less than 60 cases have been reported so far. [orpha.net]
Epidemiology In the United States, Sjögren syndrome is estimated to be the second most common rheumatologic disorder, behind SLE. Sjögren syndrome affects 0.1-4% of the population. [emedicine.medscape.com]
Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. [ncbi.nlm.nih.gov]
Trends in the epidemiology of focal segmental glomerulosclerosis. Semin Nephrol. 2003;23(2):172–182. 3. Hull RP, Goldsmith DJ. Nephrotic syndrome in adults. BMJ. 2008;336(7654):1185–1189. 4. Cho S, Atwood JE. Peripheral edema. [aafp.org]
Pathophysiology
In: Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 10th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. https://www.clinicalkey.com. Accessed May 12, 2017. AskMayoExpert. [mayoclinic.org]
The underlying pathophysiology of nephrotic syndrome is not completely clear. 4 Although the more intuitive “underfill” mechanism of edema from reduced oncotic pressure caused by marked proteinuria may be the primary mechanism in children with acute [aafp.org]
Prevention
Prevention In the U.S., the Pfizer-BioNTech COVID-19 vaccine is now available to people age 12 and older. A vaccine can prevent you or your child from getting the COVID-19 virus. [mayoclinic.org]
Is it possible to prevent thoracic outlet syndrome? It's possible to prevent thoracic outlet syndrome by maintaining relaxed tissues of the upper chest. [medicinenet.com]
Prevention of these symptoms with corticosteroids supports this contention and provides a reasonable alternative to discontinuing Ara-C. [ncbi.nlm.nih.gov]
Ideally, prevention is the best solution. [ashermans.org]