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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

ABSTRACT: DRAM2-associated retinopathy is a rare inherited retinal dystrophy, and its outcome has not been determined. A single retinal involvement by a mutation of the DRAM2 gene is unexplained. We found three unrelated patients with a disease-causing DRAM2 variant in a biallelic state from 1555 Japanese individuals of 1314 families with inherited retinal dystrophy. We reviewed their medical records and examined their peripheral lymphocytes by transmission electron microscopy (TEM). Patient 1 was a 38-year-old woman who complained of night blindness and reduced vision. She developed macular degeneration at age 43 years. Patients 2 and 3 were a man and a woman both of whom noticed night blindness in their 30s. Both had a degeneration in the macula and midperiphery in their 40s, which progressed to a diffuse retinal degeneration in their 60s when their vision was reduced to hand motions. Three novel DRAM2 variants were identified. TEM of the lymphocytes of Patients 1 and 2 showed abnormal structures in 40.6% and 0.3% of the peripheral lymphocytes, respectively. We concluded that the DRAM2-associated retinopathy of our patients was a progressive rod-cone dystrophy, and the visual outcome was poor. The systemic effect of DRAM2 mutations may be compensable and have variations.

SUBMITTER: Kuniyoshi K

PROVIDER: S-EPMC7072995 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

Kuniyoshi Kazuki K Hayashi Takaaki T Kameya Shuhei S Katagiri Satoshi S Mizobuchi Kei K Tachibana Toshiaki T Kubota Daiki D Sakuramoto Hiroyuki H Tsunoda Kazushige K Fujinami Kaoru K Yoshitake Kazutoshi K Iwata Takeshi T Nakano Tadashi T Kusaka Shunji S

International journal of molecular sciences 20200216 4

DRAM2-associated retinopathy is a rare inherited retinal dystrophy, and its outcome has not been determined. A single retinal involvement by a mutation of the DRAM2 gene is unexplained. We found three unrelated patients with a disease-causing DRAM2 variant in a biallelic state from 1555 Japanese individuals of 1314 families with inherited retinal dystrophy. We reviewed their medical records and examined their peripheral lymphocytes by transmission electron microscopy (TEM). ...[more]

PMID: 32079136

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Project description:BackgroundHypertrophic pachymeningitis (HP) is generally regarded as a rare inflammatory disease, which results in a diffuse thickening of the dura mater. We retrospectively collected data from patients with HP.MethodsA total of 16 patients with HP were included in our study. The clinical features, laboratory evaluation, imaging findings, treatment, and outcome were reviewed.ResultsOf the 16 cases, half were male, with a mean age of 52.6 ± 13.2 years. The mean duration from onset to diagnosis was 8.6 months. The most frequent presenting symptoms in HP cases were a recurrently chronic headache (81.3%) and multiple cranial nerve injury (50%). Antineutrophil cytoplasmic antibody- (ANCA-) related HP was found in 5 cases and IgG4-related HP in 1 case. The intracranial pressure was elevated in 4 cases. The cerebrospinal fluid (CSF) had lymphocytosis in 5 cases and increased protein in 12 cases. Immunoglobulins (IgG, IgA, and IgM) and protein showed linear relationships in the CSF. On magnetic resonance imaging (MRI), localized or diffuse dura maters were thickened in all cases. HP combined with subacute subdural hemorrhage or hypertrophic spinal pachymeningitis was also observed in individual cases. Biopsy of the dura mater in one case showed amounts of inflammatory cells infiltrating, with an increased percentage of IgG4-positive plasma cells. Of all cases referring to glucocorticoid treatment, the symptoms have improved significantly in 10 cases. In other 6 cases, mycophenolate mofetil or azathioprine was added. All patients showed clinical improvement at the follow-up visits.ConclusionThe clinical characters of HP are chronic onset, recurrently chronic headache, and multiple cranial nerves paralysis. Inflammatory changes in CSF caused by intrathecal synthesis of immunoglobulin, characteristic dural enhancement on MRI, and pathologic biopsy are all helpful for diagnosis. The addition of immunosuppressant, especially mycophenolate mofetil, is a good choice for steroid-resistance HP.

Project description:ImportanceDiabetic retinopathy (DR) is a leading cause of vision loss worldwide. As the incidence of both type 1 and type 2 diabetes among youths continues to increase around the world, understanding the factors associated with the development of DR in this age group is important.ObjectiveTo identify factors associated with DR among children, adolescents, and young adults with type 1 or type 2 diabetes in the US.Design, setting, and participantsThis cross-sectional study pooled data from 2 large academic pediatric centers in the US (Baylor College of Medicine/Texas Children's Hospital [BCM/TCH] Diabetes and Endocrine Care Center and Johns Hopkins University [JHU] Pediatric Diabetes Center) to form a diverse population for analysis. Data were collected prospectively at the JHU center (via point-of-care screening using fundus photography) from December 3, 2018, to November 1, 2019, and retrospectively at the BCM/TCH center (via electronic health records of patients who received point-of-care screening using retinal cameras between June 1, 2016, and May 31, 2019). A total of 1640 individuals aged 5 to 21 years with type 1 or type 2 diabetes (308 participants from the JHU center and 1332 participants from the BCM/TCH center) completed DR screening and had gradable images.Main outcome and measuresPrevalence of DR, as identified on fundus photography, and factors associated with DR.ResultsAmong 1640 participants (mean [SD] age, 15.7 [3.6] years; 867 female individuals [52.9%]), 1216 (74.1%) had type 1 diabetes, and 416 (25.4%) had type 2 diabetes. A total of 506 participants (30.9%) were Hispanic, 384 (23.4%) were non-Hispanic Black or African American, 647 (39.5%) were non-Hispanic White, and 103 (6.3%) were of other races or ethnicities (1 was American Indian or Alaska Native, 50 were Asian, 1 was Native Hawaiian or Pacific Islander, and 51 did not specify race or ethnicity, specified other race or ethnicity, or had unavailable data on race or ethnicity). Overall, 558 of 1216 patients (45.9%) with type 1 diabetes used an insulin pump, and 5 of 416 patients (1.2%) with type 2 diabetes used an insulin pump. Diabetic retinopathy was found in 57 of 1640 patients (3.5%). Patients with DR vs without DR had a greater duration of diabetes (mean [SD], 9.4 [4.4] years vs 6.6 [4.4] years; P < .001) and higher hemoglobin A1c (HbA1c) levels (mean [SD], 10.3% [2.4%] vs 9.2% [2.1%]; P < .001). Among those with type 1 diabetes, insulin pump use was associated with a lower likelihood of DR after adjusting for race and ethnicity, insurance status, diabetes duration, and HbA1c level (odds ratio [OR], 0.43; 95% CI, 0.20-0.93; P = .03). The likelihood of having DR was 2.1 times higher among Black or African American participants compared with White participants (OR, 2.12; 95% CI, 1.12-4.01; P = .02); this difference was no longer significant after adjusting for duration of diabetes, insurance status, insulin pump use (among patients with type 1 diabetes only), and mean HbA1c level (type 1 diabetes: OR, 1.79; 95% CI, 0.83-3.89; P = .14; type 2 diabetes: OR, 1.08; 95% CI, 0.30-3.85; P = .91).Conclusions and relevanceThis study found that although the duration of diabetes and suboptimal glycemic control have long been associated with DR, insulin pump use (among those with type 1 diabetes) was independently associated with a lower likelihood of DR, which is likely owing to decreased glycemic variability and increased time in range (ie, the percentage of time blood glucose levels remain within the 70-180 mg/dL range). Black or African American race was found to be associated with DR in the univariable analysis but not in the multivariable analysis, which may represent disparities in access to diabetes technologies and care.

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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with <i>DRAM2</i>-Associated Retinopathy.

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