Purpose:To assess the comorbidity of dry eye syndrome (DES) and changes in corneal curvature in children with allergies.Materials and Methods:This prospective, comparative, and observational interventional study included 49 patients, who presented to the Ophthalmology Clinic of a State Hospital in Turkey. There were 25 patients with clinically diagnosed seasonal allergic conjunctivitis (AC) (with complaints of itching and papilla formation of conjunctiva; AC group) and 24 healthy children (control group). There with no significant differences in age between groups. Using the ocular surface disease index (OSDI) questionnaire, we performed tear film break-up time (BUT), central reflex tear meniscus height (TMH-R) measurement, Schirmer test on both groups and evaluated keratometry (K1, K2) and spherical equivalent (SE).Results:Patients ranged in age from 6 to 18 years (median age, 11.79 years; 46.9% male; 53.1% female). The papillary reaction was severe in 10% of patients with AC. The prevalence of dry eye in children with AC was 12%. There was no statistically significant difference between groups for K1, K2, and SE (P > 0.05, all comparisons). BUT was statistically different (P = 0.004) between groups, indicating that a higher OSDI the tear film BUT was lower (ρ = 0.567). Statistically, significant negative moderate correlations were found between papillary reaction and the Schirmer test, BUT, and TMH-R (ρ = 0.454, −0.412, −0.419, and P = 0.001, 0.003, 0.002, respectively)Conclusions:The evaluation of pediatric patients with AC requires further attention to ensure an adequate diagnosis of DES.
<b><i>Introduction:</i></b> Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypotonia-cystinuria syndrome and diagnosed with megaconial congenital muscular dystrophy and cystinuria. <b><i>Case Presentation:</i></b> A 16-month-old male patient was admitted with complaints of restlessness and body laxity. It was stated that the patient had hypotonia and growth retardation at the age of 2 months. Physical examination revealed mild hypotonia, growth retardation, and development delay, while laboratory examinations identified elevated serum creatine kinase and elevated dibasic amino acid in urine analysis. Because of the findings of hypotonia, growth retardation, developmental delay, and cystinuria, hypotonia-cystinuria syndrome was considered as a differential diagnosis. However, by chromosomal microarray no contiguous deletion in region 2p21 was found, while a novel homozygous c.225-2A>T pathogenic variant in the <i>CHKB</i> gene and a c.1266_1267delGT heterozygous variant in the <i>SLC7A9</i> gene inherited from the mother were identified with whole-exome sequencing. The co-occurrence of megaconial congenital muscular dystrophy and cystinuria, mimicking hypotonia-cystinuria syndrome, was confirmed. <b><i>Conclusion:</i></b> This case suggests that in countries with a high frequency of consanguineous marriage, even if the molecular genetic analysis results are not compatible with the clinical findings, it should be kept in mind that different genetic diseases may coexist.
Several case reports have presented various neurological complications caused by lightning. However, there was no report related to cerebral salt wasting caused by lightning injury. We described a patient with lightning strike, who was subsequently diagnosed with cerebral salt wasting.
Objective Rates of obesity have risen steeply in the western world in all age groups. Sluggish Cognitive Tempo (SCT) is characterized by a cluster of symptoms. Daytime sleepiness, commonly seen in obesity, may share a similar origin with sleepiness and daydreaming symptoms of SCT. This study aims to investigate the relationship between obesity, SCT, daytime sleepiness, and eating habits. Method Adolescents, aged between 10–17 years, with a BMI >95th centile, were recruited to the study. Clinical interviews were supplemented with standardized questionnaires. Results Of the 35 adolescents, more than one quarter ( N = 10, 28.6%) had SCT. Emotional overeating and food enjoyment subscale scores showed moderate correlations with the SCT scores, though these associations were not significant when controlling for ADHD symptoms. Daytime sleepiness score in adolescents with SCT was found to be significantly higher than those without. Conclusion Sluggish Cognitive Tempo is frequently present in adolescents with obesity and associated with higher levels of emotional overeating, food enjoyment, and daytime sleepiness. Targeting aspects of SCT might offer additional avenues to assist in weight management programs for youth.
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