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Organic diseases account for only 16-30% of early feeding disorders. During the infancy period, mother-child relationship is in the center of feeding and disturbances in this relationship can also cause feeding disorders. Infantile anorexia (IA) usually begins within the first three years of age, but it has most commonly been observed to emerge between 9 and 18 months of age, a time during which babies transition to spoon and self-feeding. It is also worth noting that babies start to gain autonomy during this time frame. The present study discusses the case of an 8-month-old girl diagnosed with IA after ruling out food allergies, gastro-esophageal reflux disease, malrotation, and neurological problems. The patient was diagnosed with IA was treated with the relational regulation of parents and active participation of her father during the treatment process. It is found that mother-child relational disturbances and conflicts decreased dyadic reciprocity and non-appropriate affects in feeding times are associated with IA. Effective treatment strategies for non-organic feeding disorders might be developed by giving importance to maternal mental health and providing paternal involvement in baby caregiving. [ABSTRACT FROM AUTHOR]

The purpose of this study was to determine the health/health risk behaviors of a group of Turkish adolescents with type 1 diabetes (T1D) to determine the prevalence and explore the exact effect of these behaviors on glycemic control (GC). A total of 210 adolescents (age 12-20 years; diabetes duration >6 months; no additional comorbidities), completed a self-administered questionnaire (including some questions from Health Behavior in Schoolaged Children study questionnaire). Subjects were divided into two groups based on the hemoglobin A1c (HbA1c) levels, measured in the last 3 months: good GC (HbA1c<8%) and poor GC (HbAc1≥8%). Chi-square tests and backward stepwise logistic regression analysis were used in statistical analyses. Of the patients, 57 had good GC and 153 had poor GC. The results of the backward stepwise logistic regression analysis indicated that being overweight and frequent electronic media use were risk factors for poor GC, whereas computer use for homework for long period of time (≥2 hours/day) was found to be a protective factor in terms of GC. Screening adolescents in terms of health/health risk behaviors such as frequent electronic media use, and giving adolescents health responsibilities should be an integral part of the follow-up of these patients, and intervention programs that lead to behavioral changes should be developed. [ABSTRACT FROM AUTHOR]

This study aimed to investigate the effects of celiac disease (CD) on cardiac function in children by using conventional transthoracic echocardiography (TTE) and tissue Doppler echocardiography (TDE). Forty-nine patients diagnosed with CD were enrolled into the study. Group 1 consisted of 26 (53%) patients who had recently been diagnosed and had not been on glutenfree diet whereas Group 2 consisted of 23 (47%) patients who had been on regular gluten-free diet for at least 10 months. 20 healthy children were enrolled into the study as the control group. The deceleration time (DT) and the left ventricle (LV) isovolumetric relaxation time (IVRT) were significantly shorter in Group 1 compared to Group 2 and the control group (p=0.002, p=0.015). Mitral valve E/E' ratio was significantly lower in Group 1 and 2 when compared to the control group (p<0.001). The study demonstrated that evaluation of these parameters by using TDE could be beneficial in the early diagnosis of cardiac involvement in children with CD. [ABSTRACT FROM AUTHOR]

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period. The skin biopsy findings were consistent with epidermolysis bullosa. Due to persistent hepatosplenomegaly and cholestasis, metabolic tests and liver biopsy were performed. During the follow-up, hemolytic anemia and red urine were detected. The levels of porphyrin metabolites were determined at high concentrations in plasma, stool and urine analysis, which were suggestive of congenital erythropoietic porphyria. [ABSTRACT FROM AUTHOR]

Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo frameshift mutation in exon 22 that resulted in amino acid substitution and premature codon termination at position 788. This is a new mutation involving the OCRL1 gene in a patient with Lowe syndrome of Turkish origin and expands the mutation spectrum in this disorder. [ABSTRACT FROM AUTHOR]