Publications by authors named "Suat Fitoz"

128 Publications

A 2-Year-Old Boy With Hypoxemia, Pulmonary Hypertension, and Digital Clubbing.

Chest 2021 Jan;159(1):e45-e48

Department of Pediatric Pulmonology, Ankara University School of Medicine, Ankara, Turkey.

Case Presentation: A 2-year-old boy was referred to the Ankara University School of Medicine Children's Hospital with a history of recurrent respiratory distress and cyanosis since birth. His medical history was significant for premature birth at 31 weeks via cesarean section, as an infant of a diabetic mother. There was no parental consanguinity. He was hospitalized in the neonatal ICU after birth because of respiratory distress. After receiving invasive mechanical ventilation for 4 days, noninvasive mechanical ventilation and oxygen therapy were given gradually. As a result of further investigations, he received a diagnosis of situs inversus totalis and pulmonary hypertension. He was discharged on postnatal day 53 without supplemental oxygen therapy or treatment for pulmonary hypertension. Up to the age of 2 years, the patient had a history of multiple admissions to hospital for respiratory distress, lower respiratory tract infection, and cyanosis as an inpatient and outpatient. After starting to walk, shortness of breath and coughing occurred with effort.
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http://dx.doi.org/10.1016/j.chest.2020.08.2103DOI Listing
January 2021

A case of fulminant pneumococcus meningoencephalitis progressing with white matter involvement despite two doses of conjugated pneumococcus vaccine.

Turk J Pediatr 2020 ;62(6):1058-1063

Departments of Pediatric Infection, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: Streptococcus pneumonia is a cause of serious mortality and morbidity, especially among small children. However, currently, it causes lower rates of invasive infections due to successful vaccination programs Case. We report an exceptional case of a 6-month-old child with meningoencephalitis caused by Streptococcus pneumonia despite the administration of two doses of pneumococcal conjugate vaccine (PCV). Meningitis progressed rapidly and led to widespread damage in parenchymal brain tissue with the emergence of fulminant meningoencephalitis. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed widespread brain lesions, suggesting extensive parenchymal injury.

Conclusion: Such diffuse white matter lesions among pediatric patients with Streptococcus pneumonia meningoencephalitis despite two doses of PCV have not been reported previously.
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http://dx.doi.org/10.24953/turkjped.2020.06.018DOI Listing
January 2020

Chronic non-bacterial osteomyelitis: another disease associated with MEFV gene mutations.

Clin Exp Rheumatol 2020 Sep-Oct;38 Suppl 127(5):112-117. Epub 2020 Nov 25.

Department of Paediatric Rheumatology, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone disease of unknown aetiology. The relationship between CNO and familial Mediterranean fever (FMF) is not clearly documented so far. This cross-sectional study aims to evaluate the clinical and laboratory characteristics of a cohort of CNO patients within the context of its relationship with FMF and MEFV gene mutations.

Methods: Demographic and clinical data were extracted from electronic medical records of patients with CNO. The MEFV gene analysis was performed for all patients.

Results: A total number of 18 patients with CNO with a median follow-up of 36.50 (13.00-84.00) months were included in the study. Five patients (27.8%) were found to have at least one exon 10 mutations (four with M694V and one with M680I). Four of them (22.2%) had homozygous or compound heterozygous mutations of the MEFV gene. Two patients had a previous diagnosis of FMF and developed CNO while FMF was under control. Patients with MEFV mutations had an earlier onset of CNO, higher acute phase reactants, lower haemoglobin concentrations, and a higher number of bone lesions at disease onset with a persistent course of disease more frequently.

Conclusions: Our results demonstrated an increased frequency of MEFV gene mutations in CNO and a more severe disease phenotype of CNO in patients with MEFV gene mutations. Physicians practicing in regions where FMF is prevalent should be aware of this relationship and ask about the symptoms of FMF in detail in patients with CNO. Moreover, FMF should be included in CNO-associated conditions.
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December 2020

Interpeduncular Heterotopia and Brain Stem Cleft: An Isolated Finding Not Associated with Joubert Syndrome.

Neuropediatrics 2021 02 27;52(1):62-64. Epub 2020 Oct 27.

Department of Pediatric Radiology, Ankara University School of Medicine, Ankara, Turkey.

Interpeduncular heterotopia is a new neuroimaging finding reported in association with Joubert syndrome (JS) in a few cases in the literature. Nodular interpeduncular tissue was termed as interpeduncular heterotopia and anterior mesencephalic cap dysplasia in the literature in relation to gray and white matter content. We described the imaging findings and diffusion tensor imaging data of a case with interpeduncular heterotopia and brain stem cleft. This is the first case, in which interpeduncular heterotopia was an isolated finding not associated with JS.
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http://dx.doi.org/10.1055/s-0040-1715487DOI Listing
February 2021

Multiple intra-cardiac masses: A life-threatening complication of Behçet's disease.

Echocardiography 2020 07 17;37(7):1077-1079. Epub 2020 Jun 17.

Department of Pediatric Cardiology, School of Medicine, Ankara University, Ankara, Turkey.

The incidence of multiple intra-cardiac masses is rare, and the differential diagnosis may be challenging sometimes. The most common etiologies of multiple intra-cardiac masses are thrombus, vegetation, and tumors. Intra-cardiac thrombus is more common in patients with central catheters, with a wall-motion abnormality and global hypokinesis. Certain autoimmune disorders may favor the development of intra-cardiac thrombus, and very rarely, multiple thrombi may be seen. Here, a patient with multiple intra-cardiac masses in the right ventricle and diagnosed with Behçet's disease is presented.
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http://dx.doi.org/10.1111/echo.14771DOI Listing
July 2020

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.

J Clin Invest 2020 08;130(8):4213-4217

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor 6. Otic lineage cells differentiated from induced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 compared with control cells. Knockout of Gdf6 in a mouse model resulted in cochlear aplasia, closely resembling the human phenotype. We conclude that GDF6 plays a necessary role in early cochlear development controlled by cis-regulatory elements located within an approximately 500-kb region of the genome in humans and that its disruption leads to deafness due to cochlear aplasia.
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http://dx.doi.org/10.1172/JCI136951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410044PMC
August 2020

Surgical repair of non-obstructive supracardiac total anomalous pulmonary venous connection in an adult patient.

Turk Gogus Kalp Damar Cerrahisi Derg 2019 Jul 14;27(3):403-406. Epub 2019 Jun 14.

Department of Cardiovascular Surgery, Medicine Faculty of Ankara University, Ankara, Turkey.

Total anomalous pulmonary venous connection is an uncommon congenital heart malformation with abnormal drainage of all pulmonary veins into the systemic venous system. Despite its very low incidence, it is usually a pediatric cardiac emergency and rarely allows survival into adulthood without surgical correction in infancy. Herein, we report one of the oldest cases from Turkey who was successfully operated for non-obstructive, supracardiac total anomalous pulmonary venous connection.
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http://dx.doi.org/10.5606/tgkdc.dergisi.2019.17811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021413PMC
July 2019

FOXF2 is required for cochlear development in humans and mice.

Hum Mol Genet 2019 04;28(8):1286-1297

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wild type. Foxf2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to SNHL and developmental anomalies of the cochlea in humans and mice.
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http://dx.doi.org/10.1093/hmg/ddy431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452198PMC
April 2019

Use of ultrasonography as a noninvasive decisive tool to determine the accurate endotracheal tube size in anesthetized children.

Arch Argent Pediatr 2018 06;116(3):172-178

Department of Pediatric Surgery, Ankara University Medical Faculty, Ankara, Turkey.

Background: It is hard to determine the appropriate size and correct tracheal position of endotracheal tube (ETT) in children. The aim of this study is to determine tracheal diameter in children by using ultrasonography technique as objective tool and compare it with commonly used aged based formulas for the ETT size estimation.

Patients And Methods: Patients undergoing elective surgery in a tertiary children's hospital were prospectively enrolled. The subglottic transverse tracheal diameter was determined by ultrasonography. An anesthesiologist who was blind to ultrasonographic examination, determined the tube size and performed intubation by evaluating the space between vocal cords with the help of a direct laryngoscopic view. Ultrasonographically measured tracheal diameter, tube diameters, leak/pressure controls, and results of age-based tube size calculations were recorded.

Results: A total of 61 patients, mean age of 12 ± 4.21 (2- 17) years and mean weight of 38 ± 22.94 (10-106) kg were enrolled. The diameter of trachea measured by ultsonography was 13.0 (11.4-15.1). Outer diameter (mm) of the ETT determined by anesthesiologist was 8.42 ± 1.43; calculated by Cole formula was 9.0 ± 1,42; calculated by Khine formula was 7.67 ± 1.46; calculated by Motoyama formula was 8.33 ± 1.42. ETT cuff was inflated after ETT placement due to leak in 31 (47.7%) patients. Tube was replaced by a larger tube due to excessive leak in one patient. Poor intraclass correlation was found between ultrasonographically determined tracheal diameter and aged based tube diameter calculations (tracheal diameter vs Cole [0.273], Khine [0.207], and Motoyama [0.230]).

Conclusion: Ultrasonographical determination of transverse tracheal diameter is a suitable method for determining the correct endotracheal tube size when compared with the age based formulas.
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http://dx.doi.org/10.5546/aap.2018.eng.172DOI Listing
June 2018

Prevalence and sonographic features of ectopic thyroidal thymus in children: A retrospective analysis.

J Clin Ultrasound 2018 Jul 25;46(6):375-379. Epub 2018 Mar 25.

Department of Pediatric Radiology, Faculty of Medicine, Ankara University, Turkey.

Purpose: To assess the prevalence of ectopic thyroidal thymus tissue detected by sonography (US) in children and to analyze the US features.

Methods: We retrospectively reviewed images of 216 children who had undergone a thyroid or neck US examination from February 2015 to June 2015. Lesions within or adjacent to the thyroid gland that showed echopatterns consistent with thymic tissue were diagnosed as ectopic thyroidal thymus tissue. Lesions were reviewed according to their side, location, level, size, shape, echo pattern, internal content, and vascularization.

Results: A total of 216 children (119 girls, 97 boys) with a mean ± SD age of 8.6 ± 5.2 years were enrolled the study.Thirty children (13girls, 17 boys) (13.9%) had 35 lesions compatible with ectopic thyroidal thymus tissue.Nine children had intrathyroidal (4.2%) and 21 children had extrathyroidal (9.7%) ectopic thymus tissue.The mean ± SD ages of the children with and without ectopic thyroidal thymus tissue were 6.0 ± 3.6 years and 9.1 ± 5.2 years, respectively (P = .002). Twenty-five of the lesions were extrathyroidal and 10 were intrathyroidal. All extrathyroidal and most (8/9) intrathyroidal ectopic thymuses had fusiform shape with well demarcated contours. Ectopic thymuses were located either in the midportion (n = 23) or lower portion of the neck (n = 12). Both extrathyroidal and intrathyroidal ectopic thymuses showed typical hypoechoic (n = 22/25, n = 9/10, respectively) or hyperechoic (n = 3/25, n = 1/10, respectively) echo patterns with internal linear and punctate echoes.

Conclusions: Ectopic thyroidal thymic tissue is common in children. Radiologists should be vigilant about the unique US features of ectopic thyroidal thymus, including a hypo- and hyper-echoic echo pattern with multiple linear and punctate echoes, a fusiform shape, well-demarcated contours, and middle or low-lying location to differentiate it from other neck or thyroid lesions.
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http://dx.doi.org/10.1002/jcu.22590DOI Listing
July 2018

Sonographic evaluation of the endochondral ossification process of the thyroid cartilage in children.

J Clin Ultrasound 2018 Feb 9;46(2):89-95. Epub 2017 Oct 9.

Faculty of Medicine, Department of Pediatric Radiology, Ankara University, Ankara, Turkey.

Purpose: To determine the sonographic appearances of the endochondral ossification process of the thyroid cartilage in children.

Methods: Thyroid cartilage sonography (US) of 420 children was performed with a high-resolution linear-array transducer. Right and left laminae of the thyroid cartilage, including the inferior horns, were examined. Ossification foci were evaluated for their presence, location, shape, size, echo pattern, and number.

Results: Four hundred nineteen children, 239 girls and 180 boys, were enrolled in the study with a mean age of 109.8 ± 60.7 months. Ossification foci were found in 167 children (39.9%). First ossification focus detection age was 72 months in girls and 79 months in boys. On both laminae, the most frequent appearance of the ossification focus was hypoechoic (right: 94.8%, left: 93.5%). Prevalence and number of ossification foci increased with age in each sex. The shape of the ossification foci in both laminae was generally nonexpansile (right: 92.9%, left: 93.5%).

Conclusion: Endochondral ossification process of the thyroid cartilage begins in the first decade with extracellular matrix changes, which can be detected as hypoechoic foci by US. These foci can be expansile, and radiologists should be aware of this entity to avoid misdiagnosing them as abnormal masses.
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http://dx.doi.org/10.1002/jcu.22536DOI Listing
February 2018

Herlyn-Werner-Wunderlich Syndrome: Sonographic and Magnetic Resonance (MR) Imaging Findings of This Rare Urogenital Anomaly.

Pol J Radiol 2017 16;82:216-219. Epub 2017 Apr 16.

Department of Paediatric Radiology, Faculty of Medicine, Ankara University, Ankara, Turkey.

Background: Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Children usually have progressive pelvic pain after menarche, palpable mass due to hemihaemato(metro)colpos or pelvic inflammatory disease. The diagnosis usually requires a suspicion of this rare genitourinary syndrome.

Case Reports: We present ultrasonography and MR imaging findings of this rare anomaly in two cases.

Conclusions: Early recognition of this rare syndrome can lead to an immediate, proper surgical intervention and is necessary to prevent complications and preserve future fertility. Ultrasound and MR imaging findings can collectively delineate uterine morphology, indicate the absence of ipsilateral kidney and show obstructed hemivagina.
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http://dx.doi.org/10.12659/PJR.899889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402867PMC
April 2017

Carotid intima-media thickness and arterial stiffness as early markers of atherosclerosis in pediatric celiac disease.

Turk J Pediatr 2016 ;58(2):172-179

Division of Pediatric Gastroenterology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.

The association between pediatric celiac disease (CD) and atherosclerosis is unknown. Our aim was to investigate whether pediatric CD patients have an increased risk of atherosclerosis. We evaluated the premature atherosclerosis by pulse wave velocity (PWV) and carotid intima-media thickness (cIMT). A total of 37 CD patients (20 girls, mean age 13±3.3 years) and 36 healthy age and sex matched controls were enrolled. Mean duration of CD was 47.1±32.3 months and 40.5% of patients had positive tissue transglutaminase antibody (tTg) IgA. Total cholesterol level was lower in CD (p=0.026) and cIMT was lower in tTg IgA antibody negative CD (p=0.030). cIMT was significantly correlated with tTg IgA antibody positivity (r=0.336; p=0.042). Adherence to strict gluten-free diet is associated with decreased cIMT, suggesting that gluten withdrawal seems to have a beneficial effect on premature atherosclerosis.
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http://dx.doi.org/10.24953/turkjped.2016.02.008DOI Listing
May 2017

Canal of Nuck Hernia in a Female Infant Containing Uterus, Bilateral Adnexa and Bowel.

Balkan Med J 2016 Sep 1;33(5):566-568. Epub 2016 Sep 1.

Department of Radiology, Ankara University School of Medicine, Ankara, Turkey.

Background: The canal of Nuck is a fold of peritoneum that invaginates into the inguinal canal and closes at or just before birth. If the canal of Nuck remains open in female infants, herniation of the uterus, adnexa and/or bowel loops may arise through the inguinal canal into the labia majora.

Case Report: The present case is a 12-week-old female infant with complaints of left groin swelling and discomfort. Ultrasonographic examination revealed a left inguinal hernia containing both adnexa (ovaries and fallopian tubes), uterus and small bowel loops with fluid.

Conclusion: A hernia containing ovary and uterus should be considered as a possible cause in a female infant with a groin mass. Ultrasonography of the inguinal mass lesions should be performed routinely in a female infant for accurate diagnosis.
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http://dx.doi.org/10.5152/balkanmedj.2016.150643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056664PMC
September 2016

Childhood polyarteritis nodosa: diagnosis with non-invasive imaging techniques.

Clin Rheumatol 2017 Jan 5;36(1):165-171. Epub 2016 Oct 5.

Department of Pediatrics, Division of Pediatric Rheumatology & Nephrology, Ankara University School of Medicine, Ankara, Turkey.

There is limited number of publications about the use of non-invasive imaging modalities in the diagnosis of childhood polyarteritis nodosa (cPAN). The aim of this study was to present the clinical and imaging findings of the patients with cPAN who were diagnosed with non-invasive imaging techniques. Files of patients who had been diagnosed as cPAN in our department from 2005 to 2015 were reviewed, retrospectively. Demographic, clinical, laboratory, and imaging findings of the patients were evaluated. Nine patients (8M, 1F; age at disease onset: 12.5 years (7-16)) had been diagnosed as cPAN in our clinic with non-invasive imaging techniques within the last 10 years. Abdominal pain, fever, fatigue, and myalgia were the most frequent complaints. Doppler ultrasonography (US) was used in the diagnosis of seven patients and computed tomography (CT) angiography was done in four patients. Duration between admission to our center and diagnosis was median of 5 days (8 h-10 days), including four patients who were diagnosed within 24 h of admission. Approximately 80 % of our patients with cPAN had MEFV gene mutations and 90 % had elevated anti-streptolysin O levels. All of them had the involvement of the gastrointestinal tract. Hepatic and cystic arterial involvements were detected in seven and six patients, respectively. This report included the largest cPAN series that were diagnosed with non-invasive imaging modalities. We suggest that non-invasive modalities, especially Doppler US, should be considered in first line approach in the diagnosis of these patients, particularly in children.
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http://dx.doi.org/10.1007/s10067-016-3440-5DOI Listing
January 2017

Pelvic osteomyelitis in a 15-year-old girl: case report.

Arch Argent Pediatr 2016 Oct 1;114(5):e370-3. Epub 2016 Oct 1.

Department of Pediatric Infectious Diseases, Ankara University Medical School, Ankara, Turkey.

Pelvic osteomyelitis is a rare infection. Ilium, ischium, pubis and acetabulum are commonly affected sites. Pelvic radiography, pelvic magnetic resonance and scintigraphy are useful imaging techniques for diagnosis. However, diagnoses should be confirmed with bone biopsy from the lesion. Sometimes diagnosis is delayed because of deep localization of infection site. Here in, we report a 15-year-old girl with left groin pain who was diagnosed as pelvic osteomyelitis one month after initial symptoms. Patient was successfully treated with antibiotics for 8 weeks. In conclusion, although pelvic osteomyelitis is an unusual infection in childhood, it should be considered as differential diagnoses of pain in groin, hips, thigh, abdomen and spine. If diagnosis is suspicious, empiric treatment should be started quickly, because it will be possible to achieve satisfactory clinical results with effective treatment.
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http://dx.doi.org/10.5546/aap.2016.e370DOI Listing
October 2016

Calcaneus osteomyelitis secondary to Guthrie test: case report.

Arch Argent Pediatr 2016 Aug 1;114(4):e260-3. Epub 2016 Aug 1.

Department of Pediatric Infectious Diseases, Ankara University Medical School, Ankara, Turkey.

Calcaneus osteomyelitis is a rare infection in newborns. Invasive procedures, prematurity and low birth wight are some causative factors. The clinical signs may be mild. We report a neonate with calcaneous osteomyelitis which was secondary to a Guthrie test sample. She was admitted to hospital with swelling, redness and increased temperature on her heel. Superficial tissue ultrasound showed fluid collection with heavy content was observed on the posterior of the right foot. Puncture and drainage was performed and methicillin-susceptible Staphylococcus aureus was isolated from the drainage culture. Extremity magnetic resonance imaging showed tissue defect in right foot, edema-inflammation and contrast enhancement. Intravenous sulbactam-ampicillin and oral amoxicillin and clavulanic acid were given for 6 weeks. In follow-up, clinical symptoms recovered without curettage. In conclusion; calcaneous osteomyelitis should be considered in the differential diagnosis of swelling on heel in neonates who have been applied to invasive procedures as Guthrie test sample.
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http://dx.doi.org/10.5546/aap.2016.eng.e260DOI Listing
August 2016

Lipomatous hypertrophy of the interatrial septum in a child with atrial tachycardia.

Pediatr Int 2016 Jun;58(6):523-525

Department of Pediatric Gastroenterology, Ankara University Medical School, Ankara, Turkey.

A 13-year-old girl who had been on home parenteral nutrition for 6 months has been presented with multifocal atrial tachycardia and atrial fibrillation. Echocardiography and multislice computed tomography showed fat accumulation on the interatrial septum. Lipomatous hypertrophy of the interatrial septum has never been reported in children.
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http://dx.doi.org/10.1111/ped.12917DOI Listing
June 2016

Retroaortic Variant of Reverse Horseshoe Kidney With Butterfly Vertebrae Presenting as Neurogenic Bladder.

Urology 2016 Sep 6;95:e1-2. Epub 2016 Jun 6.

Department of Pediatric Urology, School of Medicine, Ankara University, Ankara, Turkey.

Horseshoe kidney is a relatively common congenital anomaly. In 95% of the cases, lower poles are connected to each other. In a small subset, an isthmus connects both upper poles (reverse horseshoe kidney). Almost always, the fusion of kidney poles occurs anterior to the aorta and vena cava. The fusion of renal poles posterior to both aorta and vena cava is extremely rare. Herein, we present a case with multiple rare congenital anomalies-retroaortic variant of reverse horseshoe kidney, retroaortic left renal vein, and butterfly vertebrae.
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http://dx.doi.org/10.1016/j.urology.2016.05.050DOI Listing
September 2016

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development of hair cell-neuronal connections. We ascertained a family with autosomal recessive deafness associated with a common cavity inner ear malformation and auditory neuropathy. Via whole-exome sequencing, we identified a variant (c.2207G>C, p.R736T) in ROR1 (receptor tyrosine kinase-like orphan receptor 1), cosegregating with deafness in the family and absent in ethnicity-matched controls. ROR1 is a tyrosine kinase-like receptor localized at the plasma membrane. At the cellular level, the mutation prevents the protein from reaching the cellular membrane. In the presence of WNT5A, a known ROR1 ligand, the mutated ROR1 fails to activate NF-κB. Ror1 is expressed in the inner ear during development at embryonic and postnatal stages. We demonstrate that Ror1 mutant mice are severely deaf, with preserved otoacoustic emissions. Anatomically, mutant mice display malformed cochleae. Axons of spiral ganglion neurons show fasciculation defects. Type I neurons show impaired synapses with inner hair cells, and type II neurons display aberrant projections through the cochlear sensory epithelium. We conclude that Ror1 is crucial for spiral ganglion neurons to innervate auditory hair cells. Impairment of ROR1 function largely affects development of the inner ear and hearing in humans and mice.
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http://dx.doi.org/10.1073/pnas.1522512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889368PMC
May 2016

Suprasellar masses in children: Characteristic MR imaging features.

J Neuroradiol 2016 Jul 4;43(4):246-59. Epub 2016 May 4.

Department of Pediatric Radiology, Faculty of Medicine, Ankara University, Ankara, Turkey.

Pediatric suprasellar masses are unique in their clinical presentation and imaging features. The differential diagnosis, incidence, surgical approach and adjuvant treatment options differ from adult tumors. Magnetic resonance (MR) imaging is fundamental in preoperative evaluation and provides detailed information about the suprasellar region. In this article, we review the characteristic MR imaging findings of common suprasellar masses in children. We also briefly discuss useful MR imaging sequences and planes used in the initial evaluation of a pediatric suprasellar mass and clinical findings at presentation.
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http://dx.doi.org/10.1016/j.neurad.2016.03.009DOI Listing
July 2016

Herlyn-Werner-Wunderlich Syndrome: A Rare Cause of Pelvic Pain and High CA 19-9 Levels in an Adolescent Girl.

APSP J Case Rep 2016 Jan-Apr;7(1). Epub 2016 Jan 1.

Department of Radiology, Ankara University School of Medicine, Ankara, Turkey.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare developmental anomaly that includes uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. A 13-year-old girl presented with chronic abdominal pain. Magnetic resonance imaging revealed uterus didelphys, hematometrocolpos and renal agenesis on the right side with imperforate hymen. Subsequently the patient was found to have Mullerian duct anomalies. CA 19-9 level was high. At laparoscopy combined with vaginoscopy hematocolpos was drained following which she improved clinically and CA 19-9 level returned to normal.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715886PMC
January 2016

Bone marrow aspiration complications: Iliopsoas abscess and sacroiliac osteomyelitis.

Turk J Pediatr 2016 ;58(5):562-565

Divisions of Pediatric Nephrology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.

After bone marrow aspiration procedure; some complications like pain and bleeding at the puncture site may be expected but some serious complications like osteomyelitis and soft tissue infections may also rarely occur. In this case we present a boy with recurrent fever. During etiologic investigation, familial Mediterranean fever (FMF) gene M694V mutation was +/+. Patient was treated with oral colchicine however fever persisted. The patient was considered as colchicine resistant FMF and steroid treatment was planned. Bone marrow aspiration procedure was executed to rule out malignancy. Three months after bone marrow aspiration, he was readmitted with complaint of left pelvic pain, difficulty in walking without support and standing on his left foot. Radiological imaging demonstrated left iliopsoas abscess and left sacroiliac osteomyelitis. Patient was successfully treated with intravenous ampicillin-sulbactam and clindamycin treatment for 6 weeks. Then oral amoxicillin-clavulanic acid treatment was continued for 2 weeks. Patient was discharged without any surgical procedure. On 1-year follow-up he could walk without any support.
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http://dx.doi.org/10.24953/turkjped.2016.05.019DOI Listing
September 2017

Growing Masses in a Preterm Newborn's Cheeks.

Indian J Pediatr 2016 Feb 8;83(2):189-90. Epub 2015 Oct 8.

Neonatal Intensive Care Unit, Department of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, 06230, Hamamonu, Ankara, Turkey.

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http://dx.doi.org/10.1007/s12098-015-1906-0DOI Listing
February 2016

Middle aortic syndrome in a teenager.

Turk J Pediatr 2014 Nov-Dec;56(6):658-60

Department of Cardiovascular Surgery, Ankara University Faculty of Medicine, Ankara, Turkey.

Middle aortic syndrome (MAS) is a rare pathology that involves diffuse/segmental narrowing of the distal thoracic or abdominal aorta. The most common clinical manifestation is severe hypertension, which requires multiple antihypertensive medications and/or surgical repair. We report the surgical repair of MAS in a 14-year-old male.
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March 2016

Staphylococcus aureus endocarditis and pyomyositis: Rare complications of rotavirus gastroenteritis.

Pediatr Int 2015 Aug;57(4):780-2

Division of Pediatric Infectious Diseases, Ankara University, Ankara, Turkey.

Rotavirus may cause life-threatening complications in untreated patients during the course of gastroenteritis. Electrolyte imbalance, bacteremia and sepsis are the most common complications of rotavirus gastroenteritis (RG). It is believed that translocation of intestinal microorganisms as a result of intestinal epithelium dysfunction is the underlying mechanism of bacteremia in RG. Although Gram-negative bacteremia has been noted as a complication in RG, Staphylococcus aureus bacteremia and endocarditis have not been reported previously. A 22-month-old boy was admitted with complaints of fever, diarrhea and dehydration. He was diagnosed with RG complicated with S. aureus bacteremia, pyomyositis and endocarditis. We call attention to these complications in patients with prolonged or late-onset fever during RG as rare complications of the disease.
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http://dx.doi.org/10.1111/ped.12649DOI Listing
August 2015

Two children with steroid-responsive nephrotic syndrome complicated by cerebral venous sinus thrombosis.

Nefrologia 2015 21;35(5):497-500. Epub 2015 Jul 21.

Division of Pediatric Nephrology, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.nefro.2015.06.001DOI Listing
May 2017

Intrathyroidal Ectopic Thymus in Children: Retrospective Analysis of Grayscale and Doppler Sonographic Features.

J Ultrasound Med 2015 Sep 12;34(9):1651-6. Epub 2015 Aug 12.

Departments of Pediatric Radiology (A.E.Y., S.F.), Pathology, Division of Clinical Cytology (K.C.), Pediatric Endocrinology (Z.S., P.B., M.B.), and Pediatric Surgery (E.A.Y.), Faculty of Medicine, Ankara University, Ankara, Turkey.

Objectives: The purpose of this study was to define grayscale and color Doppler sonographic features of an ectopic intrathyroidal thymus and to differentiate it from other thyroid nodule etiologies.

Methods: We retrospectively reviewed imaging findings from 30 children who had a diagnosis of an ectopic intrathyroidal thymus from November 2005 to January 2013. Nodular thyroid lesions that were enclosed by the thyroid parenchyma and showed a typical echo pattern consistent with the thymus were accepted as the enclosed form of an intrathyroidal ectopic thymus. Eleven of these 30 children had an intrathyroidal ectopic thymus enclosed by the thyroid parenchyma, and they were enrolled in the study. The recorded sonograms were reviewed according to side, location, size, shape, echo pattern, internal content, and vascularization.

Results: The enclosed forms of ectopic intrathyroidal thymuses were unilateral in all children and located in the mid portion (n = 10) or lower portion (n = 1). All lesions were well demarcated, and the most common shape was fusiform (n = 8). Nine lesions showed a typical hypoechoic echo pattern with internal linear and punctate echoes resembling a mediastinal thymus. On color Doppler imaging, 6 lesions showed hypovascularity compared to the thyroid parenchyma, and 5 lesions showed internal vascularity.

Conclusions: Unique sonographic features of the enclosed form of an ectopic intrathyroidal thymus, including a hypoechoic echo pattern with multiple linear and punctate echoes, a fusiform shape, a well-demarcated contour, and a mid- or low-lying location with hypovascularity or internal vascularity, can help radiologists differentiate it from other thyroid nodule etiologies.
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http://dx.doi.org/10.7863/ultra.15.14.10041DOI Listing
September 2015

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.

John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

Background: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies.

Methods: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families.

Results: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families.

Conclusions: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.
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http://dx.doi.org/10.1186/s12881-015-0149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422282PMC
February 2015

Visceral fat necrosis in a newborn after whole body hypothermia.

J Pediatr 2015 Jun 4;166(6):1545.e1. Epub 2015 Apr 4.

Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey; Department of Pediatrics, Yildirim Beyazit University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.jpeds.2015.02.066DOI Listing
June 2015