Presentation
This commitment constitutes the focus of the present study. [ahajournals.org]
She presented at ten weeks with pendular nystagmus and failure to fix and follow. She was noted to have albinoid fundi, hypopigmented skin and neutropenia. [haematologica.org]
Individual I.2, presented with linear skin defects, which healed with scarring (arrows) (D,E). [mdpi.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 [ojrd.biomedcentral.com]
5) The Drip-seq data are presented in a very general way (as total # of peaks, distance covered etc.) making it difficult to fully appreciate how the patterns change, and the spatial relationship to other genomic features. [elifesciences.org]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
4) Figure 6E/F) By focusing on only two LINE elements it seems too small of a set to “suggest a direct role of RNASEH2a in triggering DNA hypomethylation.” Perhaps you can suggest that it plays a role at these LINE elements. [elifesciences.org]
Response to Therapy The relation observed between genotype and specific triggers also suggested that the response to β-blockers might be in part gene specific. [ahajournals.org]
Müllerian derivative aplasia Müllerian derivative aplasia, which may be suggestive of MRKH syndrome, has been described in association with gonadal dysgenesis. [ojrd.biomedcentral.com]
P2 showed an additional band using antibodies against β3A that was not present in healthy controls or other subjects with HPS2, suggesting expression of a truncated β3A protein of approximately 80kDa (Figure 1A). [haematologica.org]
Treatment
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]
Treatment of utero-vaginal aplasia Treatment consisting of creating a neovagina must be offered to patients only when they are ready to start sexual activity and also when they are emotionally mature. [ojrd.biomedcentral.com]
Zurück zum Zitat Ingram JM: The bicycle seat stool in the treatment of vaginal agenesis and stenosis: a preliminary report. Am J Obstet Gynecol. 1981, 140: 867-873. [springermedizin.de]
Data on therapy were available for 494 patients (74%), which also includes patients who received no treatment (in large part representing the sudden deaths that occurred before diagnosis). [ahajournals.org]
The immunodeficiency phenotype is consistent with neutropenia, although in P3 infections persisted despite improved neutrophil count with G-CSF treatment. This may indicate an additional immune defect in HPS2, possibly arising from CTL dysfunction. [haematologica.org]
Prognosis
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis. Pediatr. Dermatol. 2020, 37, 217–218. [mdpi.com]
Etiology
Etiology Prevalence and characteristics of central nervous system involvement by chronic lymphocytic leukemia. Strati P, Uhm JH, Kaufmann TJ, Nabhan C, Parikh SA, Hanson CA, Chaffee KG, Call TG, Shanafelt TD Haematologica 2016 Apr;101(4):458-65. [ncbi.nlm.nih.gov]
This condition is similar but distinct from MRKH syndrome (see Etiology section) and may therefore lead to confusion. [ojrd.biomedcentral.com]
Zurück zum Zitat Folch M, Pigem I, Konje JC: Mullerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv. 2000, 55: 644-649. 10.1097/00006254-200010000-00023. [springermedizin.de]
Epidemiology
PubMed Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Prieto L, Frias JL: Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. [springermedizin.de]
CAS PubMed Google Scholar Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Prieto L, Frias JL: Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. [ojrd.biomedcentral.com]
Pathophysiology
The choice of these “classified” triggers was based on the following pathophysiological considerations. Physical stress, or exercise, is a clear-cut condition without possibility of misinterpretation. [ahajournals.org]
Prevention
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]
The experimental prevention with β-blocker therapy of life-threatening arrhythmias triggered by a loud noise suggests their effectiveness also for LQT2 patients at risk under this specific condition. [ahajournals.org]