Maxillary buccal cortical plate inclination at mini-screw insertion sites

Objective:To evaluate whether buccal cortical bone inclination varies for the maxillary alveolar processes of adult patients with decreased, normal, and increased facial heights.Materials and Methods:Cone-beam computed tomography images of 135 adult patients, including 49 hypodivergent subjects (26 women, 23 men), 40 hyperdivergent subjects (24 women, 16 men), and 46 normodivergent (25 women, 21 men) were analyzed. Cortical bone inclination measurements were made relative to the occlusal plane. Cross-sectional slices of the maxilla were taken at interdental sites from the distal aspect of maxillary canine to the mesial aspect of maxillary second molar.Results:Analysis of variance indicated significant differences (P < .05) between the angles formed by the line tangent to the cortical bone and the occlusal plane among the vertical facial types for the regions between canine and first premolar and between second premolar and first molar at miniscrew insertion sites.Conclusion:The results of this study indicate that vertical facial pattern should be taken into consideration when adjusting the insertion angle of miniscrews at the maxillary buccal region.     

Vitamin D deficiency in pregnant women and their neonates in spring time in western Turkey

Although Turkey is located in a sunny region, vitamin D deficiency is still a serious health problem in pregnant women and their infants, especially among the low socio-economic status Turkish population. This study was carried out in order to measure serum 25-hydroxyvitamin D3 [25(OH)D] concentrations of the pregnant women in the last trimester and in their neonates at delivery and to determine the factors associated with maternal serum 25(OH)D concentrations. Among the patients visiting the Ege Obstetrics and Gynecology Hospital in the period March to May 2008, 258 healthy pregnant women ≥37 weeks of gestation were included in this study. The information on different characteristics such as the number of pregnancies and births, nutritional status, vitamin and mineral support during gestation, educational status, clothing style and the economic level of the family was collected from women. Blood samples from the mothers and umbilical cord of the newborns were taken to measure 25(OH)D. The mean 25(OH)D concentrations of the mothers and their infants were 11.5 ± 5.4 ng/mL and 11.5 ± 6.8 ng/mL, respectively. We found a strong positive correlation between maternal serum and umbilical cord blood 25(OH)D concentrations (r = 0.651, P < 0.001). The concentration of 25(OH)D was ≤20 ng/mL in 233 mothers (90.3%) and ≤10 ng/mL in 130 mothers (50.4%). Maternal serum 25(OH)D concentrations related strongly to factors such as uncovered dressing style, sufficient consumption of dairy products and multivitamin use during gestation (P < 0.05). About half (52.7%) of these women had a covered dressing style. 25(OH)D concentrations of these covered dressing mothers and their infants were 9.7 ± 5.1 ng/mL and 9.7 ± 5.6 ng/mL, respectively, which were significantly lower compared with those of uncovered mothers and their babies (P < 0.001). This study showed that, despite a sunny environment, vitamin D deficiency and insufficiency are highly prevalent among the mothers and their neonates. This is generally due to the life style and nutritional status of the mothers. These findings suggest that much more effective vitamin D prophylaxis programmes should be implemented for pregnant women as well as for their babies.     

A novel homozygous <Emphasis Type="Italic">GALC</Emphasis> variant has been associated with Krabbe disease in a consanguineous family

Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient’s loss before the age of 2. Herein, we report the evaluation of a consanguineous family with three affected children manifesting severe neurological findings that ended with death before the age of 2, in an attempt to provide genetic diagnosis to the family. One of the children underwent detailed physical and neurological examinations, including brain magnetic resonance imaging (MRI) and scalp electroencephalography (EEG) evaluations. GALC genetic testing on this child enabled identification of a novel homozygous variant (NM_000153.3: c.1394C>T; p.(Thr465Ile)), which confirmed diagnosis as KD. Familial segregation of this variant was performed by PCR amplification and Sanger sequencing that revealed the parents as heterozygous carriers. We believe this novel GALC variant will not only help in genetic counseling to this family but will also aid in identification of future KD cases.     

Mutations in AR or SRD5A2 Genes: Clinical Findings,Endocrine Pitfalls,and Genetic Features of Children with 46,XY DSD

Objective:Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD.Methods:Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (AR) gene was screened when the ratio was <20. Stepwise analysis of other associated genes were screened in cases with no causative variant found in initial analysis. For statistical comparisons, the group was divided into three main groups and subgroups according to their genetic diagnosis and T/DHT ratios.Results:A total of 128 DSD patients from 125 non-related families were enrolled. Birth weight SDS and gestational weeks were significantly higher in 5α-RD group than in AIS and undiagnosed groups. Completely female phenotype was higher in all subgroups of both AIS and 5α-RD patients than in the undiagnosed subgroups. In those patients with stimulated T/DHT <20 in the prepubertal period, stimulated T/DHT ratio was significantly lower in AIS than in the undiagnosed group, and higher in 5α-RD. Phenotype associated variants were detected in 24% (n=18 AIS, n=14 5α-RD) of the patients, revealing four novel AR variants (c.94G>T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects.Conclusion:T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel AR variants were identified in our study.     

The Impact of the CEDD-NET on the Evaluation of Rare Disorders: A Multicenter Scientific Research Platform in the Field of Pediatric Endocrinology

Objective:The database http://cedd.saglik-network.org (CEDD-NET) has been operating since 2013 in Turkey. All pediatric endocrinologists can propose projects to this network. The aim of our study was to determine the impact of CEDD-NET on the transformation of multicenter studies into scientific publications and assess the academic characteristics of the studies that have been transcribed into publication.Methods:All the studies that were opened to patient admission on the website between August 26, 2013 and March 1, 2021 were reviewed.Results:A total of 30 studies were accepted and opened for data entry. The median data collection period was 12 (1.5-24) months, while the median number of researchers participated was 23 (3-180), the median number of cases was 120 (26-192). The average cost was $2113 (1370-3118). Out of 30 studies, data entry was completed for 27. Sixteen publications were produced from 14 studies, 13 ot them have not published yet. The median time from the end of data entry to publication of the study was 686 (168-1608) days. While the median impact factor of the journals in which the studies were published was 1.803 (1.278-5.399), the median number of citations was 6.5 (0-49), and cited by 99 times in Web of Science indexed journals in total.Conclusion:CEDD-NET appears to be productive and effective as all the publications are of high quality that have been published in the Q1-Q2 categories. This study demonstrated the benefits and necessity of establishing nationwide databases, even covering more than one country, in specialized branches, such as pediatric endocrinology where rare diseases are of concern.