| 1. |
- Delbari, MT, et al.
(författare)
-
Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran
- 2019
-
Ingår i: International archives of allergy and immunology. - : S. Karger AG. - 1423-0097 .- 1018-2438. ; 180:1, s. 52-63
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background:</i></b> Hyper-immunoglobulin M (HIGM) syndrome is a rare heterogeneous group of primary immunodeficiency disorders characterized by low or absent serum levels of IgG and IgA along with normal or elevated serum levels of IgM. <b><i>Methods:</i></b> Clinical and immunological data were collected from the 75 patients’ medical records diagnosed in Children’s Medical Center affiliated to Tehran University Medical Sciences and other Universities of Medical Sciences in Iran. Among 75 selected patients, 48 patients (64%) were analyzed genetically using targeted and whole-exome sequencing. <b><i>Results:</i></b> The ratio of male to female was 2.9:1. The median age at the onset of the disease, time of diagnosis, and diagnostic delay were 10.5, 50, and 24 months, respectively. Pneumonia and lower respiratory tract infections (61.3%) were the most common complications. Responsible genes were identified in 35 patients (72.9%) out 48 ge<i>netically</i> analyzed patients. <i>Cluster of differentiation 40 ligand</i> gene was the most mutated gene observed in 24 patients (68.5%) followed by <i>activation-induced cytidine deaminase</i> gene in 7 patients, <i>lipopolysaccharide-responsive and beige-like anchor</i> (1 patient), <i>nuclear factor-kappa-B essential modulator</i> (1 patient), <i>phosphoinositide-3-kinase regulatory subunit 1</i> (1 patient), and <i>nuclear factor kappa B subunit 1</i> (1 patient) genes. Nineteen (25.3%) patients died during the study period, and pneumonia was the major cause of death occurred in 6 (31.6%) patients. <b><i>Conclusion:</i></b> Physicians in our country should carefully pay attention to respiratory tract infections and pneumonia, particularly in patients with a positive family history. Further investigations are required for detection of new genes and pathways resulting in HIGM phenotype.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Fereshtehnejad, SM, et al.
(författare)
-
Mortality in Iranian Patients with Parkinson's Disease: Cumulative Impact of Cardiovascular Comorbidities as One Major Risk Factor
- 2015
-
Ingår i: Parkinson's disease. - : Hindawi Limited. - 2090-8083 .- 2042-0080. ; 2015, s. 834796-
-
Tidskriftsartikel (refereegranskat)abstract
- Mortality rate, life expectancy, survival, and the impact of comorbidities on them in people with Parkinson’s disease (PD) need to be assessed in settings with different sociodemographic backgrounds. We investigated mortality features in Iranian PD patients focusing on the role of cardiovascular multimorbidity on their survival. Data on mortality and comorbidity profile was gathered in a cohort of 190 individuals with idiopathic PD referred to a Movement Disorders Clinic. Standardized mortality ratio (SMR) compared to the Tehran general population was 3.44 and the life expectancy at birth was 67.4 (95% CI: 59.1–75.8) yr. Patients with at least one cardiovascular comorbidity had a shorter survival time after PD onset (14.0 versus 29.2 yr,p=0.012). The hazard ratio for death increased 2.8 times (95% CI: 1.5–5.2,p=0.002) with one additional cardiovascular comorbidity. Among all comorbid conditions, stroke showed the strongest independent effect on mortality in PD patients [HR = 13.1 (95% CI: 2.4–71.7),p=0.003]. Conclusively, life expectancy was slightly lower in Iranian PD patients compared to the general population, while the SMR was high. Cardiometabolic multimorbidity substantially decreased survival in people with PD. Our study highlights the need for assessment, prevention, and treatment of cardiovascular morbidities in parkinsonian patients, given their effect on survival.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
|
|
