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1.
Ocul Immunol Inflamm ; 30(5): 1265-1273, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35404757

ABSTRACT

PURPOSE: To study the epidemiological and clinical features of uveitis post-COVID-19 vaccination. PATIENTS AND METHODS: Retrospective chart review of patients presenting with uveitis after COVID-19 vaccination in tertiary uveitis services. RESULTS: In total, 25 patients, 76% females, mean age 43.2 years, were included. Uveitis occurred after Pfizer, Moderna, Astra-Zeneca and Covaxin vaccination. Anterior uveitis was the most frequent type of uveitis (56%). History of uveitis was found in 19 cases (76%), among whom 90.9% of the tested patients developed anti-Sars-CoV-2 spike antibodies after vaccination. In a mean follow-up of 5 months, one-line decrease in visual acuity was found in 12% of patients. During post-vaccine uveitis, 15.8% of cases needed an increase in their systemic therapy. According to Naranjo score, new-onset uveitis had a higher probability of being associated with vaccination (p < .01). CONCLUSION: COVID-19 vaccination can cause uveitis but has no significant impact on the visual prognosis after resolution.


Subject(s)
COVID-19 Vaccines , COVID-19 , Uveitis , Adult , Female , Humans , Male , Antibodies, Viral , COVID-19/epidemiology , COVID-19 Vaccines/adverse effects , Follow-Up Studies , Prognosis , Retrospective Studies , Uveitis/chemically induced , Uveitis/diagnosis , Uveitis/epidemiology , Vaccination/adverse effects
2.
Clin Endocrinol (Oxf) ; 97(3): 284-292, 2022 09.
Article in English | MEDLINE | ID: mdl-35261046

ABSTRACT

OBJECTIVE: Silver-Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS. DESIGN: An observational study with retrospective data collection. PATIENTS: Individuals with molecularly confirmed SRS aged ≥13 years. MEASUREMENTS: Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near-final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment. RESULTS: Seventy-one individuals (40 female) were included. The median age was 22.0 years (range 13.2-69.7). The molecular diagnoses: H19/IGF2:IG-DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71). Total height gain was greater in GH-treated individuals (median 1.53 SDS vs. 0.53 SDS, p = .007), who were shorter at treatment initiation (-3.46 SDS vs. -2.91 SDS, p = .04) but reached comparable heights to GH-untreated individuals (-2.22 SDS vs. -2.74 SDS, p = .7). In GH-treated individuals, BMI SDS was lower at the most recent assessment (median -1.10 vs. 1.66, p = .002) with lower BMI gain (2.01 vs. 3.58, p = .006) despite similar early BMI SDS to GH-untreated individuals (median -2.65 vs. -2.78, p = .3). CONCLUSIONS: These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.


Subject(s)
Body Height , Body Mass Index , Human Growth Hormone , Silver-Russell Syndrome , Adolescent , Adult , Aged , Female , Human Growth Hormone/therapeutic use , Humans , Male , Middle Aged , Retrospective Studies , Silver-Russell Syndrome/drug therapy , Young Adult
4.
J Clin Endocrinol Metab ; 102(11): 4100-4108, 2017 11 01.
Article in English | MEDLINE | ID: mdl-28945864

ABSTRACT

Objectives: Premature adrenarche has been reported to be frequent in Silver-Russell syndrome (SRS), but systematic studies are lacking. Here, we studied the prevalence of early adrenarche in SRS, potential predictors, and consequences based on cases with long-term follow-up. Design and Setting: This retrospective longitudinal single-center study included 62 patients with SRS (34 boys) with documented age at adrenarche and positive Netchine-Harbison clinical score who were seen during the past 20 years with a median follow-up of 12.8 years. Clinical and biochemical characteristics were collected from patient records. Adrenarche was defined by reaching a serum dehydroepiandrosterone concentration >500 ng/mL. Results: Boys reached adrenarche at a median age of 9.2 years (quartiles: 7.6, 10.9 years) and pubarche at a median age of 11.7 years (quartiles: 10.7, 12.8 years). Girls reached adrenarche at a median age of 8.1 years (quartiles: 6.6, 10.1 years) and pubarche at a median age of 9.8 years (quartiles: 8.3, 10.8). Premature adrenarche occurred in 13% of the patients. Multiple linear regression analysis revealed that early adrenarche was associated with early initiation of recombinant human growth hormone (rhGH) treatment (P = 0.0024 in boys; P = 0.0195 in girls), but not with the Netchine-Harbison clinical score (P > 0.25). Response to rhGH treatment (median dose, 50 µg/kg/d) and adult height (n = 43) were not compromised by early adrenarche. Conclusions: Early or premature adrenarche was more frequent in SRS than in the general population and was associated with early age at initiation of rhGH treatment. Response to rhGH treatment and adult height were not compromised by early adrenarche.


Subject(s)
Adrenarche/physiology , Silver-Russell Syndrome/physiopathology , Adolescent , Adrenarche/drug effects , Age Factors , Child , Dehydroepiandrosterone/blood , Female , Follow-Up Studies , Hormone Replacement Therapy , Human Growth Hormone/therapeutic use , Humans , Longitudinal Studies , Male , Puberty, Precocious/blood , Puberty, Precocious/drug therapy , Puberty, Precocious/physiopathology , Retrospective Studies , Silver-Russell Syndrome/drug therapy , Time Factors
5.
Horm Res Paediatr ; 88(3-4): 201-207, 2017.
Article in English | MEDLINE | ID: mdl-28675902

ABSTRACT

BACKGROUND/AIMS: Recently, we have described a family of 4 members presenting with intrauterine and postnatal growth failure, low IGF-2 levels, and signs of Silver-Russell syndrome (SRS) who carried a genomic IGF2 mutation. Here, we assess the value of IGF-2 in relation to SRS. METHODS: We collected data from 48 SRS children and 48 short children born small for gestational age (SGA) seen at our center. The SRS children were 4.6 ± 2.0 years of age, and the SGA children were 4.8 ± 1.8 years of age. All patients were prepubertal and growth hormone naive. An 11p15 ICR1 loss of methylation (11p15LOM) was present in 22, maternal uniparental disomy of chromosome 7 (upd(7)mat) in 7, and IGF2 genomic mutation (IGF2mut) in 3 patients. Growth factors were measured by in-house radioimmunoassays. RESULTS: The median IGF-2 standard deviation scores (SDSs) were: IGF2mut -1.75, upd(7)mat -1.69, nonsyndromic SGA -1.52, 11p15LOM -0.61, and clinical (tested negative) -0.55. The median IGF-2:IGF-1 concentration ratio was 2.57 in IGF2mut compared to 5.44 in 11p15LOM (p = 0.036), 7.84 in clinical, and 7.98 in upd(7)mat. Upd(7)mat patients had significantly lower IGF-1 and IGFBP-3 SDSs than patients with 11p15LOM (p ≤ 0.002). CONCLUSION: Serum IGF-2 in combination with IGF-1 and IGFBP-3 can add to the clinical signs of SRS patients and help to perform targeted genetic testing. Further studies are needed.


Subject(s)
Insulin-Like Growth Factor Binding Protein 3/blood , Insulin-Like Growth Factor II/genetics , Mutation , Silver-Russell Syndrome/diagnosis , Child , Child, Preschool , DNA Methylation , Female , Humans , Infant, Newborn , Infant, Small for Gestational Age , Insulin-Like Growth Factor I/metabolism , Insulin-Like Growth Factor II/metabolism , Male , Retrospective Studies , Silver-Russell Syndrome/blood , Silver-Russell Syndrome/genetics
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