Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.

OBJECTIVE: This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder. METHODS: In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guani-dinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed. Other data, including age, parental consanguinity, history of seizure, developmental mile-stones, and physical examination, were also recorded. RESULTS: An inborn error of metabolism was found in 13 (12.4%) patients. Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association between positive meta-bolic evaluation and parental consanguinity, history of seizures, microcephaly, and delayed development. CONCLUSIONS: Our results suggest that metabolic screening should be performed in the cases of autism associated with parental consanguinity, developmental delay, and a history of seizures. The assays to be considered as a screening panel include plasma or blood amino acids, acylcarnitines, creatine and guanidinoacetate, and urinary levels of organic acids.

Retinoblastoma presentation, treatment and outcome in a large referral centre in Tehran: a 10-year retrospective analysis.

BACKGROUND/OBJECTIVES: Early diagnosis, care and treatment of retinoblastoma is a challengeable issue for Iranian health system. This study was designed and conducted in a referral multidisciplinary centre in the capital city of Iran to evaluate management, care, prognosis and survival rates of paediatric patients with retinoblastoma. METHODS: In this retrospective study, a total number of 309 patients younger than 15 years, diagnosed with retinoblastoma, who referred for diagnosis and treatment to MAHAK's Pediatric Cancer Treatment and Research Center (MPCTRC) from 2007 to 2017 were evaluated. All data were analyzed via SPSS version 22 software in regard of parametric and non-parametric data. Survival rates were analyzed using the Kaplan-Meyer method. RESULTS: The mean age of patients was 20 months and the majority of patients (77%) had leukocoria as a common clinical symptom at the time of diagnosis. Primary treatment methods were systemic chemotherapy (94%), laser (35%) and primary enucleation (28%). Relapses occurred in nearly 42% of cases, and the median time from diagnosis to the first relapse was 9 months. At the time analyzing the data, 11% of patients died. Patients' 5-year OS and RFS rates were 79.6% and 41.5%, respectively. CONCLUSION: Comparing results with other conducted studies identifies that the recurrence rate was high in our considered patients. Also, OS and RFS rates in our study were not as considerable as other reports. Screening methods, updating protocols and follow-up of patients may lead to improvements in survival rates of patients with retinoblastoma.

Intravitreal bevacizumab alone or combined with 1 mg triamcinolone in diabetic macular edema: a randomized clinical trial.

PURPOSE: To compare the results of intravitreal bevacizumab (IVB) injection alone or in combination with intravitreal 1 mg triamcinolone acetonide (IVT) in center-involved diabetic macular edema. METHODS: In this randomized clinical trial study, ninety-two eyes of 46 patients with bilateral center-involved diabetic macular edema and no previous treatment were included in the study. One eye of each patient was randomly assigned to 1.25 mg of IVB injection or combination of 1.25 IVB and 1 mg IVT. Evaluation of best-corrected visual acuity (BCVA), central macular thickness (CMT), intraocular pressure (IOP) and grading of lens opacity was conducted at baseline, and weeks 2, 4, 6, 8, 12 and 24 after treatment. Retreatment was performed at a 6-week interval whenever indicated based on CMT. RESULTS: Between the groups, BCVA changes were not statistically different until 24-week follow-up (P > 0.05), but at 24 weeks after treatment, BCVA improvement was significantly better in IVB group (P = 0.049). Significant CMT reduction was observed in each group along the follow-up period (P = 0.001). The mean CMT reduction was more significant in combination (IVB + IVT) group at 2 weeks of follow-up (P < 0.001), but CMT changes were not significant between the groups at weeks 12th and 24th after injection. Overall, retreatment was applied for 59 eyes up to 24 weeks (33 in the IVB group, 26 in the IVB + IVT group). Among patients with 2 or more injections, number of injections was significantly lower in IVB + IVT group (P = 0.043). Three eyes within IVB + IVT group developed IOP rise beyond 21 mmHg, which were controlled with topical anti-glaucoma medications within 1 week. Changes in lens opacity were not significant between two groups. CONCLUSION: Eyes treated with IVB plus 1 mg IVT injections had more significant reduction in CMT in early post-injection, but this effect was transient. Although after 24 weeks visual acuity improvement was better in IVB group, combination therapy may decrease the number of injections. Combining 1 mg of intravitreal triamcinolone with bevacizumab was not accompanied with significant side effects.

Removal of subfoveal perfluorocarbon liquid: Report of 3 cases.

PURPOSE: To report removal of retained subfoveal perfluorocarbon liquid (PFCL) after vitrectomy for retinal detachment. METHODS: Three patients underwent 3-port 23-gauge vitrectomy in an attempt to remove retained subfoveal PFCL bubble secondary to retinal detachment surgery. In two patients, removal was achieved via a 23-G needle whereas the third patient with multiple small subfoveal droplets, multiple punctures were required and in that case a small 40-G needle was used.We assessed best corrected visual acuity (BCVA), fundus imaging, and spectral domain optical coherence tomography (SD-OCT) of all patients before and after surgery. RESULTS: The subfoveal PFCL was successfully removed in all 3 eyes and although a functional improvement was documented, outer retinal atrophy and photoreceptor loss was observed in all our cases. CONCLUSIONS: SD-OCT allows early recognition of retained subfoveal PFCL. Surgical removal may lead to retinal morphologic restoration and functional improvement. While we achieved complete removal of PFCL with both 23-G and 40-G instrumentation, we believe the versatility and ease justifies the universal usage of 40-G retinotomy needles.

Subfoveal Choroidal Thickness after Panretinal Photocoagulation with Red and Green Laser in Bilateral Proliferative Diabetic Retinopathy Patients: Short Term Results.

Purpose. To compare subfoveal choroidal, central retinal, and peripapillary nerve fiber layer (RNFL) thickness after panretinal photocoagulation (PRP) with red and green laser in diabetic patients. Study Design. Randomized clinical trial. Methods. A total of 50 patients with bilateral proliferative diabetic retinopathy and no diabetic macular edema underwent PRP. One eye was randomly assigned to red or green laser. Subfoveal choroidal, central retinal, and RNFL thicknesses were evaluated at baseline and 6 weeks after treatment. Results. The mean subfoveal choroidal, central retinal, and peripapillary nerve fiber layer (RNFL) thickness increased significantly in each eye 6 weeks after PRP (P values in red laser group: <0.01, 0.03, and <0.01, resp., and in green laser group <0.01, <0.01, and <0.01). There was no difference between red and green laser considering subfoveal choroidal, central retinal, and peripapillary nerve fiber layer (RNFL) thickness increase after PRP (P values: 0.184, 0.404, and 0.726, resp.). Conclusion. Both red and green lasers increased mean subfoveal choroidal, central retinal, and peripapillary nerve fiber layer (RNFL) thickness significantly 6 weeks after PRP, but there is no difference between these two modalities in this regard.

Thyroid Function Test in Pre-term Neonates During the First Five Weeks of Life.

BACKGROUND: Congenital hypothyroidism (CHT) is one of the most common congenital endocrinal disorders. The prevalence of CHT is estimated about 1 in 3,000 newborns. The prevalence, etiology and associated disorders of abnormal thyroid screening tests are reported in different ranges. In this study, we assessed the pre-term newborns for CHT and associated factors that influence thyroid function. METHODS: One hundred newborns with the gestational age fewer than 35 weeks were investigated. Baseline serum thyroid stimulating hormone (TSH) and free thyroxin (FT4) levels were measured during the first 5 days of life and were repeated during the first 5 weeks. We analyzed the effects of demographic factors and the presence of respiratory distress syndrome on the alteration of thyroid function tests during the first 5 weeks of life. RESULTS: The mean gestational age (GA) at delivery was 32.35í1.97 (range 28 to 35) weeks. CHT was observed in 13(13%) preterm infants. GA was the only factor which affect the FT4 changes over the two weeks follow-up (P < 0.001, b: -2.783, Power: 70.2%) although the differences between baseline and follow-up amount of TSH were not significantly influenced by GA (P = 0.062, power: 46%). However, the adjusted TSH and FT4 serum level changes during follow-up were significantly different between two groups (between CHT and normal, P = 0.006, 0.000, respectively). CONCLUSIONS: It seems that thyroid function tests should be repeated in preterm infants, especially for patients with lower gestational age, to confirm the diagnosis of CHT. Also, CHT should be considered among the newborns that are affected by RDS.

Sonographic measurement of uterus and ovaries in premenarcheal healthy girls between 6 and 13 years old: correlation with age and pubertal status.

BACKGROUND: To provide normal references of sonographic uterine and ovarian size in premenarcheal healthy girls aged 6-13 years in different stages of puberty. METHODS: Two hundred forty girls were enrolled into the study (mean age ± SD, 9.5 ± 1.7 years [range, 6-13.5 years]). Pubertal status was classified according to Tanner staging. All subjects underwent pelvic sonographic examination for the measurement of uterine volume, body and cervical length, anteroposterior diameter of fundus, body, and cervix, ovarian volume, and both right and left prominent follicular diameter. RESULTS: A gradual increase with age was observed in all uterine and ovarian measurements. Both uterine and ovarian parameters were significantly correlated to age, height and weight, and stages of puberty. Uterine volume was <3.5 cm(3) in 98% of prepubertal girls, and in stage 2 it was significantly more than in stage 1 (3 ± 3.2 versus 1.7 ± 1.7, respectively) (p < 0.001). Uterine body length was also significantly greater in stage 2 than stage 1 (17.5 ± 4.5 versus 14.6 ± 3.3, respectively) (p < 0.001). CONCLUSION: The reference values for uterus and ovaries were determined in healthy girls. There is a progressive increase in size of internal female genitalia in relation to age, height, weight, and puberty. Uterine volume and body length presented the best correlation with age and stage of puberty.

Surgical management in advanced stages of retinopathy of prematurity; our experience.

Retinopathy of prematurity is a potentially blinding condition. In this article we describe the surgical management for advanced stages of the disease (stages 4 and 5) Indications, options and alternative techniques are described through a review of articles and our personal experience.