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Copyright of Osmangazi Journal of Medicine / Osmangazi Tip Dergisi is the property of Eskisehir Osmangazi University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A balanced and healthy diet is very important in type 1 diabetes mellitus (T1DM) in childhood. In addition to regulating blood glucose with diet, diet should also support optimal growth. Low-carbohydrate diet aims to provide daily energy from fats and was originally used for childhood epilepsy. We present a patient with T1DM who experienced unfavorable effects when on a low-carbohydrate diet. [ABSTRACT FROM AUTHOR]

Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed. [ABSTRACT FROM AUTHOR]

Objective: Free hormones are biologically more active in target tissues. Thus, measurement of vitamin D taking into account bioavailability and free vitamin D may be preferable, especially when evidence is contradictory, as in obese children. In order to assess bioavailablity and free vitamin D, using a previously reported formula, vitamin D-binding protein (VDBP) level was measured and VDBP polymorphisms were also evaluated because of variations in binding affinity. Methods: Eighty-four obese and 78 healthy children were included. Anthropometry, calcium, phosphorus, alkaline-phosphatase, parathyroid hormone (PTH), 25 hydroxyvitamin D [25(OH)D], bioavailable-free vitamin D, and VDBP concentration and polymorphism were evaluated in the whole group. Results: Obese girls had significantly higher PTH than normal weight girls (p=0.001). Regardless of gender, obese children had significantly higher concentrations of VDBP (p=0.008) and PTH (p=0.002). When samples taken in winter were analyzed, PTH and VDBP were found to be higher and bioavailable and free vitamin D lower in the obese group. There was no difference in terms of total vitamin D between groups during the winter season. Conclusion: While total, free, and bioavailable vitamin D in the obese group was similar to the control group in autumn, free and bioavailable vitamin D in the winter was lower in the obese than the control group. In addition, PTH was higher in the obese group in both autumn and winter. Therefore, more research is needed to evaluate the variability of free and bioavailable vitamin D according to body habitus, season and the effect any differences may have. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Obstetrics & Gynecology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment. [ABSTRACT FROM AUTHOR]

Prohormone convertase 1/3, encoded by the proprotein convertase subtilisin/kexin type 1 gene, is essential for processing prohormones; therefore, its deficiency is characterized by a defi- ciency of variable levels in all hormone systems. Although a case of postprandial hypoglycemia has been previously reported in the literature, prohormone convertase insufficiency with type 2 diabetes mellitus has not yet been reported. Our case, a 14-year-old girl, was referred due to excess weight gain. She was diagnosed as having type 2 diabetes mellitus based on laboratory test results. Prohormone convertase deficiency was considered due to the history of resistant diarrhea during the infancy period and her rapid weight gain. Proinsulin level was measured as >700 pmol/L(3.60-22) during diagnosis. In genetic analysis, a c.685G> T(p.V229F) homozygous mutation in the PCSK1 gene was detected and this has not been reported in relation to this disorder. In conclusion, patients with recurrent resistant diarrhea during infancy followed by rapid weight gain need to be evaluated with the diagnosis of prohormone convertase deficiency. [ABSTRACT FROM AUTHOR]

Juvenile myasthenia gravis (JMG) is an autoimmune disease caused by antibodies affecting the postsynaptic membrane at the neuromuscular junction. The association of JMG with Type I diabetes mellitus (DM), another autoimmune disease, is very rare and the pathogenesis has not been fully explained. Our case is the youngest patient where this association has been reported in the literature and presented at the age of 4 years when diabetic ketoacidosis developed together with the emergence of ocular myasthenia findings. She is the only case diagnosed with JMG among the 510 Type I DM patients followed-up at our clinic. Although an autoimmune process may have triggered both autoimmune diseases at the same time in this case, we believe the diabetic ketoacidosis was a triggering factor for the JMG and discuss this association. [ABSTRACT FROM AUTHOR]

Objective: Type 1 diabetes mellitus (T1D); It is a chronic disease that can cause micro and macrovascular complications. Fetuin A synthesized in hepatocytes is a marker of vascular diseases. The production of this glycoprotein increases with hyperlipidemia and hyperglycemia. In our study, we aimed to determine the relationship between the factors affecting Fetuin A level and metabolic status and complications in children and adolescents with T1D. Methods: Children with a diagnosis of T1D of at least 3 years and healthy people of similar age and gender were included in our study. The subjects were divided into subgroups as metabolic control according to their HbA1c levels in the last one year, and statistical analyzes were performed in comparison with healthy controls. Results: The study consisted of 111 subjects, 74 (37 females) with T1D and 37 healthy controls (19 females). The mean age of the cases with T1D was 15.03±3.03 years, and 14.58±2.72 years in the healthy control group. Sex, BMI, height SDS, body weight SDS and puberty stages were statistically similar between the patient and control groups (p>0.05). Fetuin A levels of patients with type 1 diabetes were significantly higher than the healthy control group (p<0.001). There was no statistical difference between the good, moderate and bad metabolically controlled T1D subgroups in terms of Fetuin A levels (p>0.05). However, the Fetuin A averages of the three groups formed separately from the metabolic control were statistically higher than the Fetuin A averages of the control group (p<0.001). There was no significant difference between Fetuin A levels of T1D patients with and without complications (p>0.05). There was no significant difference between Fetuin A levels of cases with T1D and those with and without overweight (p=0.422). When T1D patients were compared according to dyslipidemia/hepatosteatosis status, no significant difference was found between Fetuin-A levels (p>0.05). Discussion and Conclusion: Fetuin A levels of the patients with T1D were significantly higher in the healthy control group (p<0.001), whereas the Fetuin A levels of the groups formed compared to the metabolic control were not statistically different (p>0.05). In conclusion; The number of articles about Fetuin A in children with T1D is few in the literature. More studies are needed to evaluate the association of Fetuin A with poor control and complications in children with T1D. [ABSTRACT FROM AUTHOR]