Publications by authors named "Mustafa Kılıç"

119 Publications

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Metab Brain Dis 2021 Apr 1. Epub 2021 Apr 1.

Metabolism Unit, Sami Ulus Children Hospital, Babur cad. No: 44, Altındağ, Ankara, 06080, Turkey.

Nonketotic hyperglycinemia is an autosomal recessive inborn error of glycine metabolism, characterized by deficient activity of the glycine cleavage enzyme system. Classic nonketotic hyperglycinemia is caused by mutations or genomic changes in genes that encode the protein components of the glycine cleavage enzyme system. We aimed to investigate clinical, biochemical, radiological findings and molecular genetic data in ten Turkish patients with classic nonketotic hyperglycinemia. Ten Turkish patients who were diagnosed with classic nonketotic hyperglycinemia in a single center from 2013 to 2019 were included in this study. Their clinical, radiological, electrophysiological and laboratory data were collected retrospectively. Sixty percent of the patients were in neonatal group, while 40 % of the patients were infantile. There were no late-onset patients. 90 % of the patients had the severe form. All patients had developmental delay and seizures. Mortality ratio was 30 % in all groups and 50 % in the neonatal group, while no mortality was seen in infantile group. Median (range) values of cerebrospinal fluid (CSF) glycine levels, plasma glycine levels and CSF/plasma glycine ratios were 148 (15-320) µmol/L, 896 (87-1910) µmol/L, 0.17 (0.09-0.21) respectively. Diffuse hypomyelination and corpus callosum anomaly were the most common cranial MRI findings and multifocal epileptic activity and burst supression pattern were the most common electroencephalographic findings. Six patients had variants in GLDC gene and four in AMT gene; five novel variants including AMT gene deletion were detected. Prognosis was poor and treatment was not effective, especially in the severe form. Classic nonketotic hyperglycinemia causes high morbidity and mortality. Neonatal-onset disease was more common and severe than infantile-onset disease. The ratio of AMT gene variants might be higher in Turkey than other countries. AMT gene deletion also plays a role in the etiology of classic nonketotic hyperglycinemia.
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http://dx.doi.org/10.1007/s11011-021-00718-3DOI Listing
April 2021

The role of intraventricular antibiotic therapy in the treatment of ventriculo-peritoneal shunt infection in children.

Childs Nerv Syst 2021 Mar 17. Epub 2021 Mar 17.

Department of Neurosurgery, Health Science University (HSU) Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Background: In this study, the effectiveness of intraventricular (IVT) antibiotic administration was evaluated in the treatment of ventriculo-peritoneal (VP) shunt infection by comparing patients who received only systemic antibiotic treatment with patients who received antibiotics added to systemic therapy by IVT route.

Methods: From July 2009 to July 2019, 78 shunt infection episodes of 74 pediatric patients with bacterial growth in cerebrospinal fluid (CSF) culture who were treated with the diagnosis of VP shunt infection were retrospectively analyzed. The demographic data, clinical and laboratory parameters, antimicrobial management, and treatment outcomes of patients with VP shunt infections were recorded.

Results: Thirty-eight of 78 shunt episodes received only systemic antibiotic treatment, and 40 had received IV plus IVT treatment. The mean age of the entire patient group was 16.7±21.3 months (range, 1 to 95 months). There was no significant difference between the two treatment groups in terms of mean age. The most common microorganism grown in CSF culture was coagulase-negative Staphylococcus. However, in the group that received IV plus IVT treatment, gram-negative bacteria were predominant (42.1% versus 20%), and this group had carbapenem-resistant and ESBL positive gram-negative bacteria growth. In the duration of CSF sterilization, hospital stay was statistically significantly shorter in the group receiving IV plus IVT treatment (p=0.000, p=0.000, respectively).

Conclusion: Our study shows that IVT administration of antibiotics shortens the duration of CSF sterilization, duration of antibiotic use, and the duration of hospital stay. For the treatment of VP shunt infection, the usage of IVT treatment in a particular group of a pediatric age is promising. However, further efforts should be done for supporting the current results by randomized controlled studies.
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http://dx.doi.org/10.1007/s00381-021-05116-9DOI Listing
March 2021

Case report of a complicated neurologically manifesting acute porphyria treated successfully with Givosiran.

J Neurol Sci 2021 03 31;422:117334. Epub 2021 Jan 31.

Department of Neurology, University of Regensburg, Bezirksklinikum Regensburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2021.117334DOI Listing
March 2021

Comparative Evaluation of Predictive Ability of Comprehensive Geriatric Assessment Components Including Frailty on Long-Term Mortality.

Exp Aging Res 2021 May-Jun;47(3):220-231. Epub 2021 Jan 24.

Department of Internal Medicine, Division of Geriatric Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.

: This study aims to compare the predictive value of all comprehensive geriatric assessment (CGA) parameters with the predictive value of frailty assessment (with Edmonton Frailty Scale (EFS) and Fried Frailty Index (FFI)) for long-term mortality, in older adults.: A total of 967 patients were included, consecutively. At the first admission, age, gender, comorbidities, number of drugs, and laboratory values of the patients were recorded. Each patient underwent CGA which consisted of anthropometric measurements, functional, cognitive, mood, nutritional, gait, fall, sleep duration, and frailty assessment. Fifty-seven months after the first admission, CGA parameters were analyzed to determine their predictive abilities on long-term mortality due to all causes, comparatively.: The median age was 73 years (range 65-94 years). The median follow-up time was 39.9 months (range 0.5-57.3 months). Serum albumin level, FFI, EFS, instrumental activity of daily living (IADL) score, and walking time were the best predictors of mortality. There was no significant difference between these parameters in predicting mortality.: FFI and EFS have similar predictive value for mortality. In busy clinical practice, a new index based on IADL, walking time, and serum albumin level may be an alternative of frailty assessment for predicting mortality.
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http://dx.doi.org/10.1080/0361073X.2021.1876395DOI Listing
January 2021

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.

Arch Argent Pediatr 2020 12;118(6):e545-e548

Division of Metabolism, University Children's Hospital, Zurich, Switzerland.

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG). NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia.
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http://dx.doi.org/10.5546/aap.2020.eng.e545DOI Listing
December 2020

Efficacy of Intradiscal Ozone Therapy with or without Periforaminal Steroid Injection on Lumbar Disc Herniation: A Double-Blinded Controlled Study.

Pain Physician 2020 09;23(5):477-484

1Department of Physical Medicine and Rehabilitation, Division of Pain Medicine, Health Sciences University, Sisli Hamidiye Etfal Training and Research Hospital, Turkey; 2Department of Neurosurgery, Health Sciences University, Sisli Hamidiye Etfal Training and Research Hospital, Turkey.

Background: Intradiscal ozone therapy, a minimally invasive technique, is used in patients that do not respond to standard conservative therapies for low back pain due to degenerative disc-induced lumbar disc herniation (LDH). Many studies on clinical efficacy lack a standardized injection method and are limited by inadequate study design.

Objective: This study aimed to determine the efficacy of periforaminal steroid injection together with intradiscal ozone therapy.

Study Design: A prospective, double-blinded, randomized controlled trial.

Setting: A tertiary care center.

Methods: This study was conducted in 65 patients with low back and leg pain caused by LDH. Group 1 received intradiscal ozone therapy (n = 35) and Group 2 received intradiscal ozone therapy with periforaminal steroid injection (n = 30). Patients were evaluated for pain using the visual analogue scale (VAS), for disability using Oswestry Disability Index (ODI), and for quality of life using the short form 36 health survey administered pre-injection and at one and 6 months post-injection. All procedures were performed under sterile conditions using C-arm fluoroscopy.

Results: Significant improvements were observed in pain, disability, and quality of life in both groups post-treatment compared to pre-injection. Mean pre-injection VAS was not significantly different between the groups (VAS: 7.8 ± 1.1 for Group 1, 7.8 ± 1.2 for Group 2). VAS values at 6 months for Group 1 and Group 2 were as follows: 3.6 ± 2.4, 4.1 ± 1.6, respectively) (P < 0.001). Mean pre-injection ODI was not significantly different between the groups (ODI: 20.9 ± 9.6 for Group 1, 25.2 ± 10.3 for Group 2). ODI values at 6 months for Group 1 and Group 2 were as follows: 12.8 ± 9.2, 14.3 ± 7.2, respectively) (P < 0.001). However, there were no significant differences between the groups. Similarly, there was no significant difference between the 2 groups on any of these parameters.

Limitations: A limited number of patients and limited follow-up time.

Conclusion: This study showed that intradiscal ozone injection alone was sufficient to treat low back and leg pain caused by LDH and that periforaminal steroid injection does not provide additional benefit, which is contrary to the literature.
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September 2020

Low stroke incidence in the TEMPiS telestroke network during COVID-19 pandemic - effect of lockdown on thrombolysis and thrombectomy.

J Telemed Telecare 2020 Aug 18:1357633X20943327. Epub 2020 Aug 18.

Department of Neurology, TEMPiS Telemedical Stroke Center, Academic Teaching Hospital of the University of Munich, München Klinik Harlaching, Munich, Germany.

Background: During the COVID-19 pandemic emergency departments have noted a significant decrease in stroke patients. We performed a timely analysis of the Bavarian telestroke TEMPiS "working diagnosis" database.

Methods: Twelve hospitals from the TEMPiS network were selected. Data collected for January through April in years 2017 through 2020 were extracted and analyzed for presumed and definite ischemic stroke (IS), amongst other disorders. In addition, recommendations for intravenous thrombolysis (rtPA) and endovascular thrombectomy (EVT) were noted and mobility data of the region analyzed. If statistically valid, group-comparison was tested with Fisher's exact test considering unpaired observations and ap-value < 0.05 was considered significant.

Results: Upon lockdown in mid-March 2020, we observed a significant reduction in recommendations for rtPA compared to the preceding three years (14.7% [2017-2019] vs. 9.2% [2020], p = 0.0232). Recommendations for EVT were significantly higher in January to mid-March 2020 compared to 2017-2019 (5.4% [2017-2019] vs. 9.3% [2020], p = 0.0013) reflecting its increasing importance. Following the COVID-19 lockdown mid-March 2020 the number of EVT decreased back to levels in 2017-2019 (7.4% [2017-2019] vs. 7.6% [2020], p = 0.1719). Absolute numbers of IS decreased in parallel to mobility data.

Conclusions: The reduced stroke incidence during the COVID-19 pandemic may in part be explained by patient avoidance to seek emergency stroke care and may have an association to population mobility. Increasing mobility may induce a rebound effect and may conflict with a potential second COVID-19 wave. Telemedical networks may be ideal databases to study such effects in near-real time.
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http://dx.doi.org/10.1177/1357633X20943327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441481PMC
August 2020

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

J Pediatr Endocrinol Metab 2020 Aug 18;33(10):1349-1352. Epub 2020 Aug 18.

Department of Medical Genetics, Gulhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.
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http://dx.doi.org/10.1515/jpem-2020-0117DOI Listing
August 2020

Does Preoperative Comprehensive Geriatric Assessment and Frailty Predict Postoperative Complications?

World J Surg 2020 Nov 31;44(11):3729-3736. Epub 2020 Jul 31.

Division of Geriatrics, Department of Internal Medicine, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey.

Background: The influence of preoperative comprehensive geriatric assessment and frailty on postoperative morbidity, mortality, delirium were examined.

Methods: A total of 108 patients were evaluated. The Katz Index of Independence in Activities of Daily Living (ADL), the Lawton Brody Instrumental Activities of Daily Living Scale (IADL), the Mini-Nutrition Assessment test (MNA), the Mini-Mental State Examination (MMSE), Yesavage Geriatric Depression Scale (GDS) were performed. Fried Criteria were used to assess physical frailty. We used the Physiological and Operative Severity Scores for the Enumeration of Mortality and Morbidity score (POSSUM), the American Society of Anesthesiologists Score (ASA), and the Charlson Comorbidity Index (CCI) to determine the risk of postoperative morbidity and mortality. Assessment Test for Delirium (4AT) was applied for detection of delirium.

Results: The median age was 71 years (min-max: 65-84). IADL (p = 0.032), MNA (p = 0.01), MMSE scores (p = 0.026) were found to be significantly lower in patients with morbidity. POSSUM physiology score (p = 0.005), operative score (p = 0.015) and CCI (p = 0.029) were significantly higher in the patients with morbidity. Patients developed morbidity were found to be more frail (p < 0.001). The patients with delirium were found to have lower IADL (p = 0.049) and MMSE scores (p = 0.004), higher POSSUM physiology score (p = 0.005) and all of them were frail. It was found that frailty (OR = 23.695 95% CI: 6.912-81.231 p < 0.001), POSSUM operative score (OR:1.118 95% CI: 1.021-1.224 p = 0.016) and preoperative systolic blood pressure (OR:0.937%95 CI: 0.879-0.999 p = 0.048) were independently related factors for postoperative morbidity.

Conclusion: In our study, CGA and frailty in preoperative period were found to be indicators for postoperative morbidity and delirium.
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http://dx.doi.org/10.1007/s00268-020-05715-8DOI Listing
November 2020

Comparison of the Accuracy of Short Cognitive Screens Among Adults With Cognitive Complaints in Turkey.

Alzheimer Dis Assoc Disord 2020 Oct-Dec;34(4):350-356

Department of Internal Medicine, Division of Geriatric Medicine, Hacettepe University Faculty of Medicine.

Background: Cutoff values of cognitive screen tests vary according to age and educational levels.

Objective: The objective of this study was to compare the accuracy and determine cutoffs for 3 short cognitive screening instruments: the Mini-Mental State Examination, Montreal Cognitive Assessment (MoCA), and Quick Mild Cognitive Impairment Screen-Turkish version (Qmci-TR), in older adults with low literacy in Turkey.

Methods: In all 321 patients, 133 with subjective cognitive complaints (SCC), 88 amnestic-type mild cognitive impairment (aMCI), and 100 with probable Alzheimer disease (AD) with a median of 5 years education were included. Education and age-specific cutoffs were determined.

Results: For the overall population, the Qmci-TR was more accurate than the MoCA in distinguishing between aMCI and AD (area under the curve=0.83 vs. 0.76, P=0.004) and the Qmci-TR and Mini-Mental State Examination were superior to the MoCA in discriminating SCC from aMCI and AD. All instruments had similar accuracy among those with low literacy (primary school and lower educational level or illiterate).

Conclusions: To distinguish between SCC, aMCI, and AD in a sample of older Turkish adults, the Qmci-TR may be preferable. In very low literacy, the choice of the instrument appears less important.
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http://dx.doi.org/10.1097/WAD.0000000000000391DOI Listing
June 2020

Early cranioplasty associated with a lower rate of post-traumatic hydrocephalus after decompressive craniectomy for traumatic brain injury.

Eur J Trauma Emerg Surg 2020 Aug 3;46(4):919-926. Epub 2020 Jun 3.

Department of Neurosurgery, Sisli Hamidiye Etfal Research and Education Hospital, University of Medical Sciences, Istanbul, Turkey.

Background: Post-traumatic hydrocephalus (PTH) is one of the primary complications during the course of traumatic brain injury (TBI). The aim of this study was to define factors associated with the development of PTH in patients who underwent unilateral decompressive craniectomy (DC) for TBI.

Methods: A total of 126 patients, who met the inclusion criteria of the study, were divided into two groups: patients with PTH (n = 25) and patients without PTH (n = 101). Their demographic, clinical, radiological, operative, and postoperative factors, which may be associated with the development of PTH, were compared.

Results: Multivariate logistic regression analysis revealed that cranioplasty performed later than 2 months following DC was significantly associated with the requirement for ventriculoperitoneal shunting due to PTH (p < 0.001). Also, a significant unfavorable outcome rate was observed in patients with PTH at 1-year follow-up according to the Glasgow Outcome Scale-Extended (p = 0.047).

Conclusions: Our results show that early cranioplasty within 2 months after DC was associated with a lower rate of PTH development after TBI.
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http://dx.doi.org/10.1007/s00068-020-01409-xDOI Listing
August 2020

Cranio-Orbital Tumors: Clinical Results and A Surgical Approach.

Sisli Etfal Hastan Tip Bul 2019 27;53(3):240-246. Epub 2019 Aug 27.

Department of Neurosurgery, Sisli Etfal Training and Research Hospital, Istanbul, Turkey.

Objectives: In this study, we aimed to share the surgical approaches and clinical experiences of cranio-orbital tumors, which are surgically difficult anatomies.

Methods: A total of 22 orbital tumors with extraorbital-transcranial pathology between January 2004 and December 2017 were retrospectively reviewed. Information was obtained from hospital, operation and outpatient records for this study. Preoperative demographic data, ophthalmologic examination findings, clinical and radiological findings were recorded. All patients had cranial magnetic resonance and cranial computerised tomography examinations at this time. The location of the tumor, its size and its relation to neighboring structures were recorded in the light of these examinations.

Results: The lateral approach was performed in 12 cases. The lateral approach was performed with frontotemporal craniotomy. Because of the lateral inferior location of the tumor in three of 12 cases, zygoma osteotomy was added to classical osteotomy. In 10 cases, the anterior approach was applied and the frontal craniotomy was found sufficient in seven cases. In three cases subfrontal craniotomy was added to classical craniotomy.

Conclusion: The findings obtained in this study suggest that high resection rates can be achieved with appropriate surgical intervention in orbital tumors requiring a transcranial surgical approach. The most important factor in surgical planning is the location of the tumor. The size of the tumor and the expectation of the percentage of surgical removal are the other important factors. In our series, it has reached high excision ratio in most cases with low complication rate, good visual field and eye movements results.
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http://dx.doi.org/10.14744/SEMB.2018.82698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192274PMC
August 2019

The Effect of Lumbar Spinal Surgery History on Intradiscal O-O Treatment Results in Patients with Lumbar Disk Herniation.

Sisli Etfal Hastan Tip Bul 2019 8;53(2):148-153. Epub 2019 Jul 8.

Department of Physical Medicine and Rehabilitation, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Objectives: The aim of the present study was to investigate the effect of previous spinal surgery on intradiscal ozone-oxygen (O-O) treatment in low back pain associated with lumbar disc herniation (LDH).

Methods: Patients who underwent intradiscal O-O therapy for LDH-induced low back pain were screened retrospectively from hospital records. To ensure homogenization of participants, patients who had received O-O therapy to L4-L5 and L5-S1 intervertebral discs, those with pre-injection and post-injection month 1 data, and those who completed the first year of treatment were included in the study. Patients who completed the first year of treatment but with missing data were contacted and followed up by phone. Patients who underwent surgery at the same level as the injection level were classified as Group 1 (n=30), and those without surgery were classified as Group 2 (n=43). Pain and disability were measured by Visual Analog Scale (VAS) and Oswestry Disability Index (ODI), respectively.

Results: There was no statistically significant difference between the pre-injection VAS and ODI scores of the groups (p=0.719 and p=0.108). Group 1 had significantly higher VAS and ODI scores on month 1 and year 1 than Group 2, and statistically significant decreases were seen in VAS and ODI scores in both groups at follow-up (p<0.001 for all). There was no statistically significant difference between month 1 and year 1 VAS evaluations of the groups with respect to ≥50% improvement in pain reduction (p=0.213 and p=0.347).

Conclusion: In the present study, the effect of the history of spinal surgery on intradiscal O-O treatment results was investigated. Intradiscal injection was found to be effective for both groups, but more successful results were obtained in patients without surgical history.
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http://dx.doi.org/10.14744/SEMB.2018.50480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199826PMC
July 2019

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.

Am J Med Genet A 2020 07 7;182(7):1608-1614. Epub 2020 Apr 7.

Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara, Turkey.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862C>T and c.725-2A>C mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.
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http://dx.doi.org/10.1002/ajmg.a.61590DOI Listing
July 2020

Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

Turk J Pediatr 2020 ;62(1):19-23

Division of Metabolism, Hacettepe University Children Hospital Ankara, Turkey.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inborn error of mitochondrial fatty acid oxidation and protein misfolding disorder. Our aim was to detect the number of Turkish patients diagnosed with SCADD in the literature and to determine the allele frequencies of two common variants (c.511C > T and c.625G > A) in the Turkish population. Five Turkish patients with SCADD were reported in the literature from four unrelated families. We also investigated allele frequencies of common variants of c.511C > T and c.625G > A, which confer susceptibility to SCADD, which were found to be 1.7% and 20.2%, respectively. Both of these susceptibility variants were found to be high in the Turkish population as they are worldwide.
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http://dx.doi.org/10.24953/turkjped.2020.01.003DOI Listing
January 2020

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.

Pancreatology 2020 Jun 13;20(4):644-646. Epub 2020 Mar 13.

Pediatric Metabolic Diseases Unit, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, Turkey.

Familial chylomicronemia is caused by deficiency of lipoprotein lipase or its co-activators. Here, we report an infant with apolipoprotein C-II (APOC2) deficiency, who developed acute pancreatitis 37 days after birth. He presented as abdominal sepsis with fever, irritability and abdominal distention. Amylase levels were low, but lipase levels and imaging findings were consistent with acute pancreatitis. He had severe hypertriglyceridemia (1091 mg/dl). Keeping him nil orally for two days resulted in rapid decrease in triglyceride levels and resolution of the clinical findings. APOC2 gene sequencing revealed a homozygous splice-site mutation (c.55+1G>C). To the best of our knowledge, this patient is not only the youngest reported patient with APOC2 deficiency, but also the youngest such patient who developed pancreatitis. Although he had a severe presentation, invasive methods to treat hypertriglyceridemia were not necessary. We emphasize that clinical findings and amylase levels are not reliable to diagnose pancreatitis in this age group.
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http://dx.doi.org/10.1016/j.pan.2020.03.008DOI Listing
June 2020

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

J Pediatr Endocrinol Metab 2020 Jan;33(1):165-170

Gazi University Hospital, Department of Pediatric Metabolism and Nutrition, Ankara, Turkey.

Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation. Case presentation A 9-month-old girl patient was referred to our clinic due to growth retardation, microcephaly and seizures. She was the third child of consanguineous parents (first-degree cousins) of Pakistani origin, born at 38 weeks gestation, weighing 2000 g after an uncomplicated pregnancy, and was hospitalized for 3 days due to respiratory distress. She had sustained clonic seizures when she was 4 months old. Physical examination showed microcephaly, truncal hypotonia and dysmorphic features. Metabolic tests were inconclusive. Abdominal ultrasonography revealed cystic appearance of the kidneys. Non-compaction of the left ventricle was detected in echocardiography. Cranial magnetic resonance imaging (MRI) showed hypoplasia of the cerebellar vermis and brain stem, corpus callosum agenesis, and cortical atrophy. A panel testing of 450 genes involved in inborn errors of metabolism (IEM) was performed that showed a novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in COQ9. A treatment of 5 mg/kg/day exogenous CoQ10 was started when she was 10 months old, and the dosage was increased to 50 mg/kg/day after the exact diagnosis. No objective neurological improvement could be observed after the adjustment of the drug dosage. Conclusions We report a case of CoQ10 deficiency due to a novel COQ9 gene mutation that adds clinical data from a newly diagnosed patient. Our case also outlines the importance of genetic panels used for specific diseases including IEM.
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http://dx.doi.org/10.1515/jpem-2019-0245DOI Listing
January 2020

Neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, and platelet-tolymphocyte ratio in different etiological causes of thyrotoxicosis

Turk J Med Sci 2019 12 16;49(6):1687-1692. Epub 2019 Dec 16.

Background/aim: The most common causes of thyrotoxicosis include Graves’ disease (GD), toxic multinodular goiter (TMNG), toxic adenoma (TA), and subacute granulomatous thyroiditis (SAT). In our study, we aimed to see whether neutrophil‐to‐lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet‐to‐lymphocyte ratio (PLR), and mean platelet volume (MPV) may be helpful in the differential diagnosis of these diseases.

Materials And Methods: We retrospectively analyzed the hospital records of the Endocrinology Clinic of our hospital between 2016 and 2019. We included data from 66 GD, 37 TA, and 35 SAT patients. We compared the data with those of 35 healthy subjects as controls.

Results: NLR, MLR, and PLR were found to be higher in the SAT group when compared to other groups. The post hoc analysis of comparison of NLR, MLR, and PLR in each group showed that NLR and PLR were significantly different in the SAT group when compared to the GD, TA, and controls groups (P < 0.001, P = 0.003, and P < 0.001 for NLR respectively and P < 0.001 for PLR in all groups). MPV levels were different between groups (P = 0.007). However, the intergroup analysis (Tukey’s test) failed to show a statistically significant difference for any of the groups. In patients with SAT, PLR and NLR were significantly higher than in the GD, TA, and control groups. MLR was also higher in SAT when compared to other groups, but the difference was not statistically significant.

Conclusion: High PLR and NLR may be helpful to differentiate SAT from GD and TA, the other common causes of thyrotoxicosis.
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http://dx.doi.org/10.3906/sag-1901-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518686PMC
December 2019

Masked hypertension is associated with end organ damage in geriatric age: Geriatric MASked Hypertension and End organ damage (G-MASH-End organ Study).

Blood Press 2020 04 12;29(2):80-86. Epub 2019 Oct 12.

Faculty of Medicine, Department of Internal Medicine, Division of Geriatric Medicine, Hacettepe University, Ankara, Turkey.

It is a question whether masked hypertension (MH) leads to end-organ damage in the geriatric age group. The aim of this study is to evaluate the associations between MH and end-organ damage such as left ventricular hypertrophy (LVH) and proteinuria in geriatric population. One hundred and two patients who were admitted to the outpatient clinic were included in the study. These patients were also included in the GMASH-Cog study in 2016, which examined the relationship between MH and cognitive function. All patients underwent ambulatory blood pressure measurement procedures. Cardiac functions of all patients were determined by echocardiography. Spot urine albumin/creatinine ratio (ACR) was measured in all patients. Forty four of 102 patients (43%) were diagnosed with MH. ACR was 9.61 mg/gr in the MH group and 7.12 mg/gr in the normal group ( = .021). In addition, left ventricular mass index (LVMI) was found to be higher in the MH group than in the normal group. Mean LVMI scores were 107.76 ± 16.37 in patients with MH and 100.39 ± 19.32 in the normotensive group ( = .046). MH is associated with end-organ damage in geriatric patients. Urinary albumin excretion and LVH which are the parameters of end-organ damage were significantly higher in MH patients. MH may cause end-organ damage and should not be overlooked in geriatric patients.
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http://dx.doi.org/10.1080/08037051.2019.1675475DOI Listing
April 2020

Surgical Stress Hyperglycemia Associated With New-Onset Diabetes in Living Kidney Donors.

Transplant Proc 2019 Sep;51(7):2228-2231

Department of General Surgery and Transplantation, University of Health Sciences, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.

Background: The aim of this study is to investigate the frequency and risk factors of new-onset diabetes after donation in kidney donors without diabetes.

Methods: Living donors of kidney transplants between 1998 and 2016 were evaluated. To detect the blood glucose profile of the donors, preoperative fasting glucose (pro-G), nephrectomy evening glucose (nG), and postoperative day 1 fasting glucose (post-G) values were measured.

Results: A total of 195 cases were included in the study. The mean follow-up time in months ± SD (range) was 56 ± 45 (12-215). Of these, 28 (14.3%) donors developed diabetes. The pro-G (103 ± 7.6 vs 93 ± 9.0), nG (208 ± 122 vs 163 ± 67) and post-G (121 ± 25 vs 111 ± 21) values of the donors with new-onset diabetes were higher. Nineteen donors (9.7%) had normal pro-G, nG, and post-G values (group A). However, there were 153 (78.5%) cases with at least 1 abnormal value (group B) and 25 (12.8%) cases that had abnormal values in all (pro-G, nG, and post-G) measurements (group C). The incidence of new-onset diabetes was 0 (0%) in group A, 11% in group B, and 48% in group C (P < .001). In multiple regression analysis, pro-G (Exp[B], 1.08; 95% CI, 1.04-1.13; P < .001) and basal glomerular filtration rate (Exp[B], 0.96; 95% CI, 0.94-0.99; P < .01) independently associated with new-onset diabetes.

Conclusions: In kidney donors without a history of diabetes, the development of diabetes after donor nephrectomy is an important problem. Pre- and postoperative blood glucose levels provide important information to predict these cases.
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http://dx.doi.org/10.1016/j.transproceed.2019.01.189DOI Listing
September 2019

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Metab Brain Dis 2019 10 5;34(5):1487-1491. Epub 2019 Jul 5.

Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.

Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive inborn error of gluconeogenesis. We aimed to investigate clinical and biochemical findings and molecular genetic data in ten Turkish patients with fructose-1,6-bisphosphatase deficiency. Ten Turkish patients who were diagnosed with fructose-1,6-biphosphatase deficiency in a single center from 2013 to 2019 were included in this study. Their clinical and laboratory data were collected retrospectively. All patients were hospitalised in intensive care unit mostly after catabolic stress conditions such as infections, starvation and rarely fructose consumption. Prognosis was good after correct diagnosis and treatment. Molecular analyses of FBP1 gene revealed a homozygous exon 2 deletion in eight patients, a novel homozygous c.910_911dupTT mutation in one patient and a homozygous IVS5 + 1G > A splicing mutation in one patient. Exon 2 deletion (previously termed exon 1) was found to be the most common mutation in Turkish fructose-1,6-biphosphatase deficiency patients.
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http://dx.doi.org/10.1007/s11011-019-00455-8DOI Listing
October 2019

Evaluation of Vitamin D Levels and Response to Therapy of Childhood Migraine.

Medicina (Kaunas) 2019 Jun 28;55(7). Epub 2019 Jun 28.

Department of Neurosurgery, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, 34371 Istanbul, Turkey.

Background And Objectives: Vitamin D deficiency and insufficiency are related with many neurological diseases such as migraine. The aim of this study was to investigate whether pediatric migraine is associated with vitamin D deficiency and the effect of vitamin D therapy on the frequency, duration, severity of migraine attacks, and Pediatric Migraine Disability Assessment (PedMIDAS).

Materials And Methods: We retrospectively examined the patients' levels of calcium, phosphorus, parathyroid hormone, alkaline phosphatase, and 25-OH vitamin D of 92 pediatric migraine patients. The patients were divided into two groups: Group 1, which had low vitamin D levels and received vitamin D therapy, and group 2, which had normal vitamin D levels and did not receive vitamin D therapy. Migraine severity measured by the visual analog scale (VAS), migraine frequency, and duration as well as scores on the PedMIDAS questionnaire were compared with regard to the 25-OH vitamin D levels. In addition, pre- and posttreatment pedMIDAS scores, VAS, migraine frequency, and duration were compared with baseline values.

Results: A total of 34.7% patients had vitamin D insufficiency (vitamin D levels between 10 and 20 ng/mL), whereas 10.8% had vitamin D deficiency (vitamin D levels < 10 ng/mL). Migraine frequency, migraine duration, and PedMIDAS scores were significantly higher in the group 1 than group 2 ( = 0.004, = 0.008, and = 0.001). After vitamin D therapy at sixth months of supplementation, migraine duration was reported statistically significant shorter (p < 0.001) and the migraine frequency, VAS scores, and pedMIDAS scores were statistically significant lower compared with baseline values in group 1 ( < 0.001).

Conclusion: We found a marked correlation between pediatric migraine and vitamin D levels. Vitamin D therapy was beneficial in migraine pediatric patients.
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http://dx.doi.org/10.3390/medicina55070321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681503PMC
June 2019

The casual association of cervical spinal cord ischemia and axonal degeneration in second motor neuron following subarachnoid hemorrhage: Experimental study.

J Clin Neurosci 2019 08 29;66:235-238. Epub 2019 May 29.

Department of Neurosurgery, Medical Faculty of Ataturk University, Erzurum, Turkey.

Aim: Muscle abnormalities after spinal cord ischemia caused by subarachnoid hemorrhage (SAH) have not been explored for degenerative variations in the soma of second motor neurons of the spinal cord gray matter. This study aimed to investigate histopathological alterations in the gray matter and the role of peripheral nerves in SAH.

Material And Methods: Twenty-two rabbits were allocated in the control (Group I, n = 5), SHAM (Group II, n = 5), and research (Group III, n = 12) groups. Muscle weakness of the upper extremities innervated by radial nerves was evaluated at the initial day, and outcomes were recorded as control data. Re-measurements were done after injecting 0.5 ml of SF for SHAM and autolog artery blood inside craniocervical subarachnoid space for the study group. After 3 weeks, radial nerve roots, their ganglia, and segments of the spinal cord around C5-6 root entry zones were extracted bilaterally. Degenerated second motor neuron somas and the degenerated radial nerve motor axons at the intervertebral foramen were assessed.

Results: The average degenerated soma intensity/mm at the C5-6 levels in the spinal cord was 2 ± 1/mm, 13 ± 4/mm, and 56 ± 10/mm for Groups I, II, and Group III. The average degenerated axon intensity of radial nerves was 3 ± 1/mm, 34 ± 9/mm, and 234 ± 78/mm for Groups I, II, and III.

Conclusion: Gray matter ischemia in the spinal cord may lead to axonal deterioration on equal levels at the peripheral nerves with advanced SAH. Detected or undetected spinal SAH should be considered an important factor on the etiology of second motor neuron diseases.
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http://dx.doi.org/10.1016/j.jocn.2019.05.039DOI Listing
August 2019

Factors associated with mortality in acute subdural hematoma: Is decompressive craniectomy effective?

Ulus Travma Acil Cerrahi Derg 2019 Mar;25(2):147-153

Department of Neurosurgery, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul-Turkey.

Background: Despite rapid diagnosis and aggressive neurosurgical intervention, acute subdural hematoma (ASDH) is a severe type of head injury that can result in high morbidity and mortality. Although surgical procedures, such as craniotomy and decompressive craniectomy (DC), can be effective, the preferred approach for treating an ASDH remains controversial. The aim of this report was to evaluate factors associated with mortality in patients with ASDH and determinants of outcome in those with ASDH who underwent DC.

Methods: The demographic details and clinical and radiological characteristics of a total of 93 patients with ASDH who underwent DC during a 60-month period from 2012 to 2017 were evaluated to determine the effect on mortality and any association with the Glasgow Coma Scale (GCS) score recorded on arrival.

Results: Sixty-five male and 28 female subjects with a mean age of 59.82+-19.49 years (range: 16-88 years) were included in the study. Sixteen patients (17.2%) died following the surgery. Older age (p=0.007) and lower GCS scores (p=0.022) were statistically significantly associated with the mortality rate. The mean hematoma thickness was 15.46+-5.73 mm, and the mean midline shift was 9.90+-4.84 mm. The mortality rate was positively correlated with an excessive midline shift (p=0.011; r=0.262) and age (p=0.022; r=0.237) in patients with ADSH. A midline shift of ≥10 mm and a hematoma thickness of ≥15 mm was significantly associated with mortality (p=0.014; p=0.039). The etiology of the trauma; comorbidities of subarachnoid, epidural, or intracranial hemorrhage; compression fractures; or contusions were not significantly correlated.

Conclusion: The results indicated that there was a higher mortality rate among older patients and those with a GCS score of <6 on arrival. A midline shift of ≥10 mm and a hematoma thickness of ≥15 mm were significantly related to mortality. Our study supports the conclusion that DC may help prevent further midline shift and be associated with a lower mortality rate compared with a craniotomy.
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http://dx.doi.org/10.5505/tjtes.2018.48079DOI Listing
March 2019

Onset of Hypertension in Living Kidney Donors After Donor Nephrectomy: Our 20 Years of Experience.

Exp Clin Transplant 2019 01;17(Suppl 1):156-158

From the Department of Nephrology, University of Health Sciences, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.

Objectives: The development of hypertension can negatively affect cardiovascular and renal outcomes in renal kidney donors. Here, we retrospectively investigated the frequency and risk factors of hypertension development in healthy renal donors at our center.

Materials And Methods: Living donors of kidney transplants performed between January 1998 and December 2016 were evaluated. Those > 18 years old, having glomerular filtration rate > 70 mL/min/1.72 m², body mass index ≤ 35 kg/m², and proteinuria < 300 mg/day were eligible. Those with a history of diabetes and hypertension and < 1 year of follow-up were excluded.

Results: In the 190 included donors, mean follow-up was 56 ± 45 months, mean age was 47 ± 10 years, and 48% were women. Baseline systolic and diastolic blood pressures were 118 ± 13 and 76 ± 8.8 mm Hg. Follow-up showed that 19 donors (10%) developed hypertension. These donors were older and had higher baseline systolic blood pressure (126 ± 13 vs 117 ± 12 mm Hg; P = .003), proteinuria (162 ± 89 vs 117 ± 63 mg/day; P = .05), fasting blood glucose (99 ± 10 vs 94 ± 9.6 mg/dL; P = .03), and uric acid levels (5.4 ± 1.7 vs 4.5 ± 1.2 mg/dL; P = .04). Although these donors had baseline glomerular filtration rates (97 ± 22 vs 104 ± 22 mL/min/1.72 m²; P = .19) similar to other donors, levels were lower at last follow-up (62 ± 14 vs 71 ± 19 mL/min/1.72 m²; P= .03). In multiple regression analysis, preoperative fasting blood glucose, systolic blood pressure, and serum uric acid levels independently predicted hypertension development.

Conclusions: In healthy renal donors, preoperative detailed evaluations can provide important information foreseeing the development of hypertension after nephrectomy.
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http://dx.doi.org/10.6002/ect.MESOT2018.P32DOI Listing
January 2019

Paradoxic Relations between Basilar Artery Reconfiguration and Superior Cervical Ganglia Ischemia After Bilateral Common Carotid Artery Ligation.

World Neurosurg 2019 05 1;125:e658-e664. Epub 2019 Feb 1.

Department of Pathology, Medical Faculty of Ataturk University, Erzurum, Turkey.

Background: The relationship between superior cervical ganglia (SCG) ischemia due to bilateral common carotid artery ligation (BCCAL) and basilar artery (BA) reconfiguration was investigated.

Methods: Twenty-three rabbits were randomly divided into 3 groups: group III rabbits underwent BCCAL (n = 13), group II rabbits were sham-operated controls (n = 5), and group I rabbits did not undergo surgery (n = 5). Degenerated neuron densities (DND) within the SCG were correlated with the BA vasodilatation index (VDI).

Results: Mean live and DND in SCG of group I rabbits were 11.235 ± 982/μm and 11 ± 3/μm, respectively, with a mean heart rate of 294 ± 21 beats/min. Mean SCG DND and heart rates were 213 ± 42/μm and 242 ± 17 beats/min for the sham group (group II) rabbits and 1743 ± 285/μm and 199 ± 19 beats/min for the study group (group III) rabbits, respectively. The BA VDI values in the sham group (group II) (1.32 ± 0.10) and the study group (group III) (0.976 ± 0.112) significantly differed from those in the control group (group I) (1.65 ± 0.12; P < 0.005) versus the sham group (group II) (P < 0.0001) versus the BCCAL applied group (group III) and between group II and group III (P < 0.005).

Conclusions: A meaningful and paradoxic correlation was detected between the BA VDI values and degenerated neuron density of SCG after BCCAL. Although a low degenerated neuron density within SCG may provoke excessive sympathetic activity and prevent excessive BA dilatation with steno-occlusive carotid artery diseases, a high degenerated neuron density may cause dangerous vasodilatation of BA.
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http://dx.doi.org/10.1016/j.wneu.2019.01.144DOI Listing
May 2019

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Metab Brain Dis 2019 04 2;34(2):495-503. Epub 2019 Feb 2.

Department of Pediatrics, Metabolism Unit, Gazi University, Ankara, Turkey.

Gangliosidoses (GM1 and GM2 gangliosidosis) are rare, autosomal recessive progressive neurodegenerative lysosomal storage disorders caused by defects in the degradation of glycosphingolipids. We aimed to investigate clinical, biochemical and molecular genetic spectrum of Turkish patients with infantile gangliosidoses and examined the potential role of serum aspartate transaminase levels as a biomarker. We confirmed the diagnosis of GM1 and GM2 gangliosidosis based on clinical findings with specific enzyme and/or molecular analyses. We retrospectively reviewed serum aspartate transaminase levels of patients with other biochemical parameters. Serum aspartate transaminase level was elevated in all GM1 and GM2 gangliosidosis patients in whom the test was performed, along with normal alanine transaminase. Aspartate transaminase can be a biochemical diagnostic clue for infantile gangliosidoses. It might be a simple but important biomarker for diagnosis, follow up, prognosis and monitoring of the response for the future therapies in these patients.
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http://dx.doi.org/10.1007/s11011-019-0391-yDOI Listing
April 2019

Timing of Decompressive Craniectomy for Malignant Middle Cerebral Artery Infarction: A Single-Center Analysis.

Medicina (Kaunas) 2019 Jan 30;55(2). Epub 2019 Jan 30.

University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Neurosurgery, Istanbul 34371, Turkey.

: Malignant middle cerebral artery infarction (MMCAI) usually leads to brain edema that may result in transtentorial herniation and brainstem compression. The prognosis of MMCAI is generally poor. The aim of this study was to discuss our experience with surgical decompression for MMCAI, and determine the association between timing of craniectomy and neurological outcomes. We identified consecutive patients diagnosed with MMCAI who underwent decompressive craniectomy (DC). Clinical and demographic data were obtained from electronic medical records, including: age, sex, preoperative Glasgow Coma Scale (GCS) score, surgery timing, postoperative GCS scores, and modified Rankin Scale (mRS) scores. This study included 27 stroke patients (aged 38⁻80 years) operated within 72 h of the onset of neurological symptoms. Sixteen, five, and six patients underwent DC within 24 h, between 24 and 48 h, and after 48 h after onset of symptoms, respectively. Five patients died after the surgery. Patients who underwent DC within 24 h and 24⁻48 h had better mean GCS scores than those who underwent DC after 48 h ( = 0.000, = 0.015). In addition, patients who underwent DC within 24 h had better mean postoperative mRS scores ( = 0.000) than other patients. Patients older than 60 years had significantly lower GCS scores ( = 0.027) and higher mRS scores ( = 0.033) than younger patients. Our findings support that DC had satisfying outcomes in patients who underwent DC within 24 h. Older age and lower Glasgow Coma Scale scores among DC patients with MMCAI are associated with high morbidity and mortality.
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http://dx.doi.org/10.3390/medicina55020031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409760PMC
January 2019

Understanding of Dry Eye in Subarachnoid Hemorrhage: An Experimental Study on the Role of Facial Nerve Ischemia.

Turk Neurosurg 2019 ;29(3):362-368

University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Neurology, Neurosurgery and Psychiatry, Department of Neurosurgery, Istanbul, Turkey.

Aim: To understand possible mechanisms underlying lacrimal gland degeneration when facial nerve root ischemia induces pterygopalatine ganglion injury and subsequent dry eye in a rabbit model of subarachnoid hemorrhage.

Material And Methods: Rabbits were divided into four groups: control, sham, moderate subarachnoid hemorrhage, and severe subarachnoid hemorrhage. Autologous blood recovered from the auricular artery was injected into the cisterna magna to induce subarachnoid hemorrhage in the two subarachnoid hemorrhage groups; animals were then monitored for dry eye development over 21 days before removal of their facial nerve roots, pterygopalatine ganglia, and lacrimal glands for immunohistochemical analyses. Neuronal viability in the pterygopalatine ganglia was measured; lacrimal gland vesicles were counted by stereological methods.

Results: The mean tear-filled vesicle number and lacrimal gland volumes significantly decreased with an increase in facial nerve root injury severity and damaged neuron numbers in the pterygopalatine ganglion. Increase in injury severity most significantly decreased the tear-filled vesicle numbers in the pterygopalatine ganglion.

Conclusion: Subarachnoid hemorrhage degenerates facial nerve parasympathetic branches entering the pterygopalatine ganglion, and neuronal density in this ganglion may be correlated with tear secretion. Our data suggest that pterygopalatine ganglion degeneration following subarachnoid hemorrhage induces dry eye.
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http://dx.doi.org/10.5137/1019-5149.JTN.22979-18.3DOI Listing
October 2019

Management of Craniopharyngioma.

J Craniofac Surg 2019 Mar/Apr;30(2):e178-e183

Department of Pathology, Şişli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Objective: Craniopharyngiomas are one of the most challenging problems for neurosurgeons because of the high recurrence rates due to their localization and associated endocrinological disorders. This study reports the outcomes of surgeries and recurrence rates of 45 craniopharyngioma cases.

Method: Patients who were diagnosed with craniopharyngioma in the authors' clinic between 1998 and 2016 evaluated retrospectively.

Results: A total of 45 patients (25 males and 20 females; age, 3-56 years) who had previously undergone surgery for craniopharyngioma were enrolled and followed up for 12 to 222 months (mean follow-up duration, 73.5 ± 55.2 months). Among these, 25 were children (55.5%) with a mean age of 9.5 ± 4.6 years and 20 were adults (45.5%) with a mean age of 37.2 ± 12.7 years. A total of 39 (86.6%) patients underwent total tumor resection, while 6 (13.4%) underwent subtotal tumor removal. During 12 to 30 months of follow-up, the progression of residual tumor was recorded in 4 patients, 3 of whom underwent surgery and postoperative radiotherapy. Despite the total resection of tumor in their first surgery, 3 patients showed tumor recurrence during 15 to 34 months of the follow-up.

Conclusion: Our findings suggest that the total resection of craniopharyngiomas, when possible, results in a favorable quality of life, with acceptable mortality and morbidity rates.
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http://dx.doi.org/10.1097/SCS.0000000000005136DOI Listing
August 2019