ORAL AND DENTAL FINDINGS OF A CHILD WITH WEILL-MARCHESANI SYNDROME TYPE II: A CASE REPORT WITH 3-YEAR FOLLOW-UP

Weill-Marchesani syndrome (WMS, OMIM# 227600) is a genetically determined, rare systemic connective tissue disorder. The syndrome is divided into four types according to mutations in related genes. Given the limited number of individuals with WMS in the literature, no genotype-phenotype correlations for ADAMTS10, ADAMTS17, FBN1, or LTBP2 have been identified. In the accessible literature, none of the limited studies were focused on the oral and dental anomalies of WMS. The present case report describes oral and dental findings of a 63 months old female patients with WMS2

Genetic and clinical approach to macrocephaly: a 5-year single-center study

Background: Macrocephaly is a condition where the head circumference is larger than the 97th percentile or 2 standard deviations. It can be a harmless trait in benign familial macrocephaly or can be seen as a component of some pathologic condition. In this article, we aimed to uncover the genetic background and clinical presentation of macrocephaly. Methods: In this retrospective study, we selected macrocephaly patients with a definitive genetic diagnosis, among 2,000 patients who were admitted to our clinic between 2014 and 2019. The data were accessed from archive. Results: The genetic testing results showed that the most common genetic causes of macrocephaly in the patients were achondroplasia (25%), neurofibromatosis type 1 (12.5%), Sotos syndrome type 1 (12.5%), and Cowden syndrome (12.5%). Conclusion: Several congenital conditions, chromosomal anomalies, and molecular mutations may cause macrocephaly. A combination of good clinical history, physical examination, and genetic testing plays a vital role in the diagnosis process. [JBCGenetics 2020; 3(2.000): 54-59

A Rare De Novo Reciprocal Translocation 46,XX,rec(7;13)(p22;q32) Karyotype

Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. We report an women with uncommon unbalanced Reciprocal translocation carrier 46,XX,rec(7;13)(q22; q32) chromosomal constitution. While her husband and her father showed normal 46,XY karyotype, her son and her mother showed same abnormal kartotype.  Peripheral blood were taken from proband and family members, then performed with lymphocyte culture and stained by binded using Giemsa-banding method.  According to the cytogenetic study  results of first degree relatives of our proband, reciprocal translocation was maternally inherited in our case.  Uniparental dysomia (UPD) is an abnormal condition in which a homologous chromosome pair is both from one parent and not from the other parent. The maternal inheritance of translocated chromosomes is same time compatible with UPD

Evaluation of dysmorphic children according to echocardiographic findings: A single center experience

Background: Abnormal echocardiographic findings are more common in dysmorphic children. In our study, dysmorphic child development and echocardiographic findings were presented according to prenatal, natal and postnatal periods. Aim of the study: The aim of this study is to evaluate the frequency and distribution of cardiac anomalies in dysmorphic children. The other aim is to investigate the prenatal, natal and postnatal characteristics of dysmorphic childs according to echocardiography findings. Design and setting: This study was carried out jointly by the Medical Genetics and Pediatric Cardiology Departments. The files and the genetic reports of the patients were examined and the hospital registry system scanned, retrospectively. The patients were followed up by the medical geneticist from 2012 to 2017. Their systemic physical examination was performed and recorded. Methods: This is a retrospective study which contains 468 children (244 males and 224 females) who were referred to the department of medical genetics due to dysmorphic features. Results: Abnormal echocardiography findings were detected in 157 dysmorphic children (33.4%). Atrial septal defect, patent foramen ovale and ventricular septal defect were the most commonly detected echocardiography findings in dysmorphic children. The number of male children in the abnormal echocardiography group was significantly higher than in the normal echocardiography group. The incidences of consanguineous marriage, polyhydramnios, intrauterine growth retardation (IUGR) and preterm delivery in the abnormal echocardiography group were significantly higher than in the normal echocardiography group. Chromosomal aneuploidy rate in the abnormal echocardiography group was significantly higher than in the normal echocardiography group (37.6% vs 1.0%; p = 0.001). Conclusion: According to our study findings, abnormal echocardiography findings were significantly associated with neonatal sex, consanguineous marriage, polyhydramnios, IUGR, preterm delivery and chromosomal aneuploidies in dysmorphic children. Keywords: Dysmorphic child, Echocardiography, Cardiac anomal

Elektrikli Bir Aracın Sürme Sisteminin Denetimi

Bu çalışmada elektrikli araçlarda kullanılan Sürekli Mıknatıslı Senkron Hub (SM-HUB) motorların hız kontrolü gerçekleştirilmiştir. SM-HUB motorlar yapısı itibariyle Fırçasız doğru akım motorlara (FDAM) benzerlik gösterse de rotor stator yapıları farklıdır. Klasik FDAM’larda rotor içerde iken bu tip motorlarda rotor dıştadır. Bu nedenle bu tip motorların pozisyon ve hız kontrollerinde alan etkili pozisyon algılayıcıları ile gerçekleştirilmiştir. Yükleme sistemi kayış ile SM-HUB motorların birbirine bağlanması ile yapılmıştır. Bu tip sistem doğrusal olmayan etkiye sahiptir. Sistemin uygulama sonuçlarının test edilmesi için TMS320F2812 sayısal işaret işlemci ile denetlenen bir SM-HUB motorun sürücüsü tasarlanarak gerçekleştirilmiştir. Bu sürücü gerçek zamanlı olarak çalıştırılmış, farklı hız ve yük koşullarında istenen performansı sağladığı görülmüştür

A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing

Background: The "autosomal recessive congenital ichthyosis (ARCI)" refers to a group of rare, heterogeneous, and non-syndromic disorders of keratinization, represented as abnormal scales over the entire body and attributable to defective epidermal keratinocyte differentiation and lipid metabolism. ARCI is caused by mutations in a wide variety of genes, including ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1, CERS3, PNPLA1, CASP14, SDR9C7, and SULT2B1. The most common cause of ARCI is a TGM1 gene mutation, which is strongly associated with a collodion membrane at birth. Case presentation: A 15-year-old male patient presented with extensive scaling over the entire body since birth. His history revealed that he was born ash-colored in a membrane, kept in an incubator for one month, and clinically diagnosed with ichthyosis at birth. The patient, who had undergone no previous genetic testing, was subjected to whole exome sequencing with the preliminary diagnosis of autosomal recessive/X-linked recessive congenital ichthyosis. The analysis identified a homozygous c.1020delG change in the TGM1 gene in the form of a frameshift mutation that is classified as pathogenic according to the American College of Medical Genetics criteria. Conclusion: Next-generation sequencing technologies employing whole-exome sequencing enable the sequencing of all protein-coding DNA regions in a single run. [JBCGenetics 2022; 5(2.000): 043-047

Genetic PI based model and path tracking control of four traction electrical vehicle

Modeling and control of four-wheel electric vehicles are difficult due to their dynamic parameters and variable road conditions. In this paper, a robust and adaptive electric vehicle model and position control that can be adapted to state variables using a dynamic lateral and longitudinal model of a four-wheel electric vehicle have been proposed. The longitudinal and lateral forces have been modeled according to Newton's second law, depending on the parameters such as the vehicle's size, width, height, weight and slope angle by using dynamic equations of the vehicle. In this paper, a permanent magnet synchronous hub motor has been used for each wheel of the electric vehicle. The magic formula wheel model has been used to determine the relationship between the slip and the friction of the designed vehicle. Using the slip system, the relationship between the speed of the electric vehicle itself and the wheel speeds have been defined. The proportional controller at the position loop and proportional + integral controller at the speed loop of the designed system have been used. In the path tracking control system, position controls have been made in the X and Y coordinate planes. A P position controller and a PI speed controller have been used for each plane. Thus, there are 6 controller coefficients in total. Because of the complicated structure of the system, it is difficult to determine the most suitable controller coefficients by analytical methods. Therefore, the genetic algorithm which is one of the heuristic algorithms has been used in determining these coefficients. Simulation studies have been conducted with a different path and position references to see the effectiveness of the proposed electric vehicle model and position control. The obtained results show that the proposed model and control system are robust, effective and reliable.WOS:0005347255000012-s2.0-8508529761

Control of A Electric Vehicle Drive System

Bu çalışmada elektrikli araçlarda kullanılan Sürekli Mıknatıslı Senkron Hub (SM-HUB) motorların hız kontrolügerçekleştirilmiştir. SM-HUB motorlar yapısı itibariyle Fırçasız doğru akım motorlara (FDAM) benzerlikgösterse de rotor stator yapıları farklıdır. Klasik FDAM’larda rotor içerde iken bu tip motorlarda rotor dıştadır.Bu nedenle bu tip motorların pozisyon ve hız kontrollerinde alan etkili pozisyon algılayıcıları ilegerçekleştirilmiştir. Yükleme sistemi kayış ile SM-HUB motorların birbirine bağlanması ile yapılmıştır. Bu tipsistem doğrusal olmayan etkiye sahiptir. Sistemin uygulama sonuçlarının test edilmesi için TMS320F2812sayısal işaret işlemci ile denetlenen bir SM-HUB motorun sürücüsü tasarlanarak gerçekleştirilmiştir. Bu sürücügerçek zamanlı olarak çalıştırılmış, farklı hız ve yük koşullarında istenen performansı sağladığı görülmüştür.In this study, speed control of permanent magnet synchronous hub motors used in electric vehicles hasbeen realized. Although SM-HUB motors are similar to brushless DC motors, rotor and statorstructures are different. Whereas in conventional FDAMs, the rotor is inside, in this type of motors therotor is outside. For this reason, position and speed controls of this type of motors are performed withfield effect position sensors. The loading system is made by connecting the SM-HUB motors with thebelt. This type of system has a nonlinear effect. In order to test the application results of the system, aTMS320F2812 digital signal processor was designed and designed to drive an SM-HUB motor driver.This drive has been executed in real time and has been shown to provide the desired performanceunder different speed and load conditions

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11). SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR) methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15)(q12;p11)] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15) has been inherited from the father because the mother had a normal karyotype (46,XX). In the proband, the der (15) could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister′s karyotypes was normal (46,XX) while his brother was not analyzed

Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.

Background: A very few diseases are reported caused due to cerebellar hypoplasia and neuronal migration defects like pachygyria. Cerebellar Ataxia, mental retardation, and Dysequilibrium Syndrome 1 (DES) (OMIM # 224050) are one among such group of diseases. DES is caused due to a homozygous mutation in the VLDLR gene involved majorly in neuronal migration. Case Presentation: Two members (siblings) from a Turkish family presented with neuromotor developmental delay, moderate learning disability, delayed psychosocial development and strabismus complaints. Whole exome sequencing (WES) was performed as consanguinity existed between the parents and specific pre-diagnosis could not provide a satisfactory conclusion for the patients. WES revealed a homozygote novel mutation in the VLDLR gene. Conclusion: Evaluation of WES data resembled a process of finding a needle in a haystack; therefore, the present study recommended clinical information and anamnesis to be very important in understanding and interpreting the WES result. [JBCGenetics 2019; 2(1.000): 77-80