The effect of emotional faces on reward-related probability learning in depressed patients.

BACKGROUND: Existing research indicates that individuals with Major Depressive Disorder (MDD) exhibit a bias toward salient negative stimuli. However, the impact of such biased stimuli on concurrent cognitive and affective processes in individuals with depression remains inadequately understood. This study aimed to investigate the effects of salient environmental stimuli, specifically emotional faces, on reward-associated processes in MDD. METHODS: Thirty-three patients with recurrent MDD and thirty-two healthy controls (HC) matched for age, sex, and education were included in the study. We used a reward-related associative learning (RRAL) task primed with emotional (happy, sad, neutral) faces to investigate the effect of salient stimuli on reward-related learning and decision-making in functional magnetic resonance imaging (fMRI). Participants were instructed to ignore emotional faces during the task. The fMRI data were analyzed using a full-factorial general linear model (GLM) in Statistical Parametric Mapping (SPM12). RESULTS: In depressed patients, cues primed with sad faces were associated with reduced amygdala activation. However, both HC and MDD group exhibited reduced ventral striatal activity while learning reward-related cues and receiving rewards. LIMITATIONS: The patients'medication usage was not standardized. CONCLUSIONS: This study underscores the functional alteration of the amygdala in response to cognitive tasks presented with negative emotionally salient stimuli in the environment of MDD patients. The observed alterations in amygdala activity suggest potential interconnected effects with other regions of the prefrontal cortex. Understanding the intricate neural connections and their disruptions in depression is crucial for unraveling the complex pathophysiology of the disorder.

The Upper Attachment of the Uncinate Process and Anterior Ethmoidal Artery.

OBJECTIVE: Variations in the upper attachment of the uncinate process (UP) are important because they can affect frontal sinus drainage and change the morphology. Functional endoscopic sinus surgery (FESS) is the primary technique used to treat chronic medically refractory rhinosinusitis. Uncinectomy is the basis of FESS technique to obtain the best possible result from surgery. The anterior ethmoidal artery (AEA) enters the nasal cavity through the orbital medial wall (lamina papyracea) may also be affected by the upper attachment of the UP. The aim of this study was to investigate a possible link between UP variations and the course of the AEA. MATERIALS AND METHODS: This retrospective, computed tomography (CT)-based, anatomic study was conducted on 200 healthy adults (100 females and 100 males) by screening bilateral paranasal sinus images. The upper attachment of the UP was classified in 6 types (1-6) based on the Liu classification. The AEA was divided into 4 types (A-D) based on location: anterior to the frontal sinus (A), between the frontal sinus and the middle nasal turbinate (B), and anterior to the posterior ethmoidal cells (C and D). All the CT images were evaluated simultaneously by 2 anatomists and 1 radiologist. RESULTS: Of the total cases (200 right and 200 left side), 48.8% were type 1 UP attachment, 11.0% type 2, 12% type 3, 9% type 4, 18% type 5, and 1.2% type 6. The AEAs were classified as 12.2% type A, 71.8% type B, 15.2% type C, and 0.8% type D. CONCLUSION: The course of the AEA through the nasal cavity was observed to shift anteriorly from the ethmoidal bulla to the frontal sinus in patients with UP attached to the lamina papyracea and middle turbinate. Remarkably, the AEA always coursed anterior from the middle nasal turbinate line.

BioBERTurk: Exploring Turkish Biomedical Language Model Development Strategies in Low-Resource Setting.

Pretrained language models augmented with in-domain corpora show impressive results in biomedicine and clinical Natural Language Processing (NLP) tasks in English. However, there has been minimal work in low-resource languages. Although some pioneering works have shown promising results, many scenarios still need to be explored to engineer effective pretrained language models in biomedicine for low-resource settings. This study introduces the BioBERTurk family and four pretrained models in Turkish for biomedicine. To evaluate the models, we also introduced a labeled dataset to classify radiology reports of head CT examinations. Two parts of the reports, impressions and findings, are evaluated separately to observe the performance of models on longer and less informative text. We compared the models with the Turkish BERT (BERTurk) pretrained with general domain text, multilingual BERT (mBERT), and LSTM+attention-based baseline models. The first model initialized from BERTurk and then further pretrained with biomedical corpus performs statistically better than BERTurk, multilingual BERT, and baseline for both datasets. The second model continues to pretrain the BERTurk model by using only radiology Ph.D. theses to test the effect of task-related text. This model slightly outperformed all models on the impression dataset and showed that using only radiology-related data for continual pre-training could be effective. The third model continues to pretrain by adding radiology theses to the biomedical corpus but does not show a statistically meaningful difference for both datasets. The final model combines radiology and biomedicine corpora with the corpus of BERTurk and pretrains a BERT model from scratch. This model is the worst-performing model of the BioBERT family, even worse than BERTurk and multilingual BERT.

Evaluation of the usage of the cervical 7th vertebra in sex estimation with measurements on computerized tomography images.

Sex estimation is the primary step in biological profiling via identification using skeletal elements. The aim of the present study was to evaluate the usefulness of the seventh cervical vertebra for sex estimation. The cervical computed tomography scans of 200 female and 200 male patients aged ≥ 20 years were analyzed. Eight different measurements of the seventh cervical vertebra were performed, including the transverse and anteroposterior diameters of the foramen vertebra, transverse and anteroposterior diameters of the corpus vertebra inferior surface, height of the corpus vertebra, corpus vertebrae-spinous process angle, and height and length of the spinous process. Independent two-sample t-test was performed; significant differences were observed between the sexes in all measurements except corpus vertebrae-spinous process angle. Further, univariate logistic regression analyses revealed that the length of spinous process showed the highest dimorphism. Among the univariate models created, the model obtained using only the length of the spinous process reached an accuracy rate of 80 %. Multivariate logistic regression analysis (via Forward LR Wald) was used for sex estimation with an accuracy of up to 90.8 % (89 % for men and 92.5 % for women). In conclusion, the seventh cervical vertebra is dimorphic in the Turkish population and allows sex estimation with high accuracy rates.

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow-up of 13 patients with a confirmed MNGIE disease of Mediterranean origin. The mean age of symptom onset was 7 years (6 months-21 years) and the average diagnosis age was 15.4 years ±8.4. Four of 13 patients (30%) died before 30 years at the mean age of 19.7 years ±6.8. Cachexia and gastrointestinal symptoms were observed in all patients (100%). The mean body mass index standard deviation score at diagnosis was 4.8 ± 2.8. At least three subocclusive episodes were presented in patients who died in last year of their life. The main neurological symptom found in most patients was peripheral neuropathy (92%). Ten patients (77%) had leukoencephalopathy and the remaining three patients without were under 10 years of age. The new homozygous "Mediterranean" TYMP mutation, p.P131L (c.392 C > T) was associated with an early presentation and poor prognosis in nine patients (69%) from five separates families. Based on the observations from this Mediterranean MNGIE cohort, we propose that the unexplained abdominal pain combined with cachexia is an indicator of MNGIE. High-platelet counts and nerve conduction studies may be supportive laboratory findings and the frequent subocclusive episodes could be a negative prognostic factor for mortality. Finally, the homozygous p.P131L (c.392 C > T) mutation could be associated with rapid progressive disease with poor prognosis.

Diffusion tensor imaging in anorectal malformations: a pilot study for the evaluation of lumbosacral plexus.

INTRODUCTION: Neurogenic bladder with anorectal malformations (ARM) is a well-known yet understudied topic. Diffusion tensor imaging (DTI) is a special usage of MRI that can evaluate peripheric nerves. The aim of this study is to evaluate the lumbosacral plexuses of patients with ARM using DTI. PATIENTS AND METHODS: Patients with ARM willing to participate were included. Patient files were reviewed, a questionnaire was made, and DTI was performed. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were computed for the right and left lumbosacral plexuses. RESULTS: There were 18 patients and 12 controls. Groups were similar in terms of sex (p = 0.232) and age (p = 0.853). There was a significant difference only for ADC of the left plexus. There was visible asymmetry in tractographies and DTI parameters of two patients with severely deformed pelvises (image 1) but also in another patient with a normal sacrum. In addition, despite asymmetry, FA and ADC were similar to controls also in these patients. CONCLUSION: This is the first study presenting quantitative data about the lumbosacral plexus in ARM. We think the most interesting finding of this study was observing the normal values even in the patients with severely malformed sacrum which is yet to be validated with further studies.

Incidental Findings on Computerized Tomography Images of Trauma Cases.

BACKGROUND: This study aimed to evaluate the characteristics of incidental findings (IFs) on computed tomography (CT) scans of trauma admissions, examine associations between IFs and gender and age-groups, and discuss the management strategies. METHODS: The CT reports were retrospectively reviewed to evaluate IFs. Cases were divided into five age-groups (0-19, 20- 39, 40-59, 60-79,≥80). IFs were classified as "Group 1": congenital anomalies that do not require further investigation, non-degenerative/minor degenerative findings; "Group 2": findings that do not require immediate intervention, require outpatient follow-up/in case of symptoms; and "Group 3": findings that require immediate intervention/further investigation. RESULTS: There were 2385 CT scans and 1802 incidental findings (IFs) in 783 trauma cases. CT scans with IFs constituted 50.2%. The percentage of IFs was 75.6% in males and 24.4% in females, and they occurred in 4.8%, 27.6%, 44.3%, 20.9%, and 2.4% of age groups 1 to 5, respectively. Group 1 had 34.6%, group 2 had 54.6%, and group 3 had 10.8% IFs. There was not any significant association between the classification and gender or age-groups. In terms of organs, IFs of the thyroid and gall bladder & bile ducts were significantly higher among females (P=0.044 and P<0.001, respectively), while IFs in the head & neck region were significantly higher in males (P<0.001). Incidental findings in the kidney, liver, adrenal gland, and vascular structures differed significantly across age-groups (P<0.05). CONCLUSION: There were no significant relationships between the classification of IFs and gender or age-groups. However, the distribution of IFs was significantly associated with gender and age-groups in terms of organs. Healthcare professionals should consider this relationship when following up and treating patients.

The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis.

BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinic-radiological syndrome characterized by neurological deficiencies and reversible magnetic resonance imaging findings in the splenium of the corpus callosum. Usually, it has a good prognosis, and patients recover without any sequelae. A viral infection has caused most MERS cases, and bacterial agents have rarely been reported as a cause of MERS. CASE REPORT: A 5-month-old male was admitted to the hospital with fever, poor feeding, decreased activity and groaning. He had focal seizures and required mechanical ventilation. A lumbar puncture was performed, and nucleic acid amplification tests (NAATs) of cerebral spinal fluid was positive for non-typeable serogroup of Neisseria meningitidis. Cranial magnetic resonance imaging (MRI) performed on day 3 of admission showed T2 hyperintensity and diffusion restriction at the splenium of corpus callosum (SCC). Diffusion restriction in the occipital horn of the left ventricular compatible with empyema was also obvious. According to the findings on cranial MRI, this clinical course was diagnosed as MERS associated with meningitis. His fever resolved in one week, cefotaxime was discontinued after 14 days, and the patient completely recovered. A follow-up MRI performed after three weeks of admission showed complete resolution of the signal intensity changes in the SCC and the occipital horn of the left lateral ventricle. CONCLUSION: To the best of our knowledge, this is the first report of MERS associated with Neisseria meningitidis in children. Bacterial agents as a cause of MERS should be kept in mind, and we should avoid unnecessary treatment strategies due to the good prognosis of MERS in children.

Two challenging cases of pituicytoma.

INTRODUCTION: Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. CASE 2: A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 × 23 × 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 × 22 × 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy. DISCUSSION: Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely.

Cerebral sinovenous thrombosis in children: A single-center experience.

OBJECTIVE: The study aimed to evaluate the patients with a diagnosis of cerebral sinovenous thrombosis in terms of clinical findings, etiology and underlying risk factors, imaging findings, treatment, and prognosis in the long term. MATERIALS AND METHODS: Medical records of 19 patients whose ages ranged between 0 days and 17 years with clinical and radiological cerebral sinovenous thrombosis in Ege University Department of Child Neurology were retrospectively evaluated. RESULTS: Nine of nineteen cases were female (47.3%). The median age was 84 months (0-201 months). The most common complaint at the presentation was headache (n=12) and the most common physical examination finding was papilledema (n=11). In etiology, otitis/mastoiditis in three cases, iron deficiency anemia in three cases, sinusitis in two cases, catheter use in four cases, Behçet's disease in three cases were determined. The most common observed genetic factors causing thrombosis was methylenetetrahydrofolate reductase mutation. The transverse sinus (68.4%) is the sinus where thrombosis is most frequently observed. As a result of an average follow-up of 12 months (2-72 months), hemiparesis (n=3/19, 15.7%) and epilepsy (n=5/19, 26.3%) were recorded as sequelae findings, and no mortality was observed. CONCLUSION: In cases presenting with headache, evaluation of papilledema on funduscopic examination should not be skipped. Neurological imaging should be performed in the change of consciousness of poor feeding infants and children with infections in the head and neck area or underlying chronic diseases. When cerebral sinovenous thrombosis is detected, anticoagulant therapy should be started immediately.

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

OBJECTIVES: The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow-up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. METHODS: We analyzed clinical, biochemical, and molecular data of nine patients with suspected BH4 deficiency. All patients were diagnosed at Ege University Faculty of Medicine in Izmir, Turkey and comprised data collected from 2006 to 2019. The diagnostic laboratory examinations included blood phenylalanine and urinary or plasma pterins, dihydropteridine reductase (DHPR) enzyme activity measurement in dried blood spots, folic acid and monoamine neurotransmitter metabolites in cerebrospinal fluid, as well as DNA sequencing. RESULTS: Among the nine patients, we identified one with autosomal recessive GTP cyclohydrolase I (ar GTPCH) deficiency, two with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with sepiapterin reductase (SR) deficiency, and three with DHPR deficiency. Similar to previous observations, the most common clinical symptoms are developmental delay, intellectual disability, and movement disorders. All patients received treatment with l-dopa and 5-hydroxytryptophan, while only the ar GTPCH, the PTPS, and one DHPR deficient patients were supplemented in addition with BH4. The recommended dose range varies among patients and depends on the type of disease. The consequences of BH4 deficiencies are quite variable; however, early diagnosis and treatment will improve outcomes. CONCLUSIONS: As BH4 deficiencies are rare group of treatable neurometabolic disorders, it is essential to diagnose the underlying (genetic) defect in newborns with hyperphenylalaninemia. Irreversible brain damage and progressive neurological deterioration may occur in untreated or late diagnosed patients. Prognosis could be satisfying in the cases with early diagnose and treatment.

Variations of the extracranial segment of vertebral artery as a bleeding risk factor.

BACKGROUND: Standart interventional procedures such as screw instrumentation, aortic arch endovascular surgery and cervical nerve blockade may be of fatal risk due to anatomic reason of variations in the proximal part of the vertebral artery (VA). The aim of this study is to study the VA variations of the extracranial segments to evaluate the frequency of the incident to demonstrate the importance of clinical condition strategy. METHODS: The prevalence of variations and morphometric measurements of the VA in three-dimensional computed tomographic angiography (3D-CTA) scans were studied. Total 400 VA was investigated for the aortic arch origin of the VA, diameter of the VA, its level of entry into the transverse foramen, the dominance sides, and related basilar artery course. RESULTS: 3D-CTA radiographs of 200 Anatolian patients (120 men and 80 women with age range 17-90 years). In most cases (approximately 94%), both sides of VA were the first branch of subclavian artery. While all the right VAs was branched from the subclavian artery, 6% of the left VAs were branched from the aortic arch. 2/3 of them originated from the proximal of the subclavian artery and 1/3 from the distal. The VA which were originating from the proximal of the classical anatomic pattern tended to enter the transverse foramen more distally than C6 level. VAs with a different level of entry than C6 are left-sided and aortic arch originated (out of 8 cases 3 had a level of entry at C5 and 2 at C4). The outer diameter ranges of the prevertebral part of the VA of subclavian origin and left VA of aortic arch origin were 3.2-3.6 mm and 3.2-3.6 mm, respectively. While the diameters of the right and left VAs were almost the same in approximately 20% cases, the left VA was dominant in up to 60% of cases. A significant relationship was found between the side of the dominant VA and in the course of the basilar artery. CONCLUSIONS: The relationship between the dominant side of VA and the course of the basilar artery of its own vessel has never been reported elsewhere. Such anatomical variations, routine preoperative 3D-CTA evaluation is mandatory to prevent the VA injury when C5-C2 instrumentation, anterior cervical decompression, cervical nerve blockade and aortic arch surgery are planned.

Clinical spectrum, treatment and outcome of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease in children: a tertiary care experience.

Anti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases.

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

INTRODUCTION: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). MATERIAL-METHODS: Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded. 10/16 patients were diagnosed using whole-exome sequencing (WES), 4/16 by Sanger sequencing of SURF1, 1/16 via targeted exome sequencing and 1/16 patient with whole-genome sequencing (WGS). The pathogenicity of SURF1 variants was evaluated by phylogenetic studies and modelling on the 3D structure of the SURF1 protein. RESULTS: We identified 16 patients from 14 unrelated families who were either homozygous or compound heterozygous for SURF1 pathogenic variants. Nine different SURF1 variants were detected The c.769G > A was the most common variant with an allelic frequency of 42.8% (12/28), c.870dupT [(p.Lys291*); (8/28 28.5%)], c.169delG [(p.Glu57Lysfs*15), (2/24; 7.1%)], c.532 T > A [(p.Tyr178Asn); (2/28, 7.1%)], c.653_654delCT [(p.Pro218Argfs*29); (4/28, 14.2%)] c.595_597delGGA [(p.Gly199del); (1/28, 3.5%)], c.751 + 1G > A (2/28, 4.1%), c.356C > T [(p.Pro119Leu); (2/28, 3.5%)] were the other detected variants. Two pathogenic variants, C.595_597delGGA and c.356C > T, were detected for the first time. The c.769 G > A variant detected in 6 patients from 5 families was evaluated in terms of phenotype-genotype correlation. There was no definite genotype - phenotype correlation. CONCLUSIONS: To date, more than 120 patients of LS with SURF1 pathogenic variants have been reported. We shared the clinical, molecular data and natural course of 16 new SURF1 defect patients from our country. This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the SURF1 gene. The identification of common variants and phenotype of the SURF1 gene is important for understanding SURF1 related LS. SYNOPSIS: SURF1 gene defects are one of the most important causes of LS; patients have a homogeneous clinical and biochemical phenotype.

Neuropsychological outcome in cases with acute disseminated encephalomyelitis.

BACKGROUND AND OBJECTIVES: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory and demyelinating disorder of the central nervous system. There have been a few studies in recent years on the fact that these cases have neurocognitive impairment. The purpose of this study is to evaluate the neurocognitive outcome and quality of life in cases with ADEM. METHODS: Eleven cases who were on follow-up between 2008 and 2017 were included in the study, systemic, neurological and psychiatric examinations were done. All magnetic resonance images were re-evaluated. The neuropsychiatric evaluation was performed by clinical examination and psychometric scales; (1) The Pediatric Quality of Life Inventory 4.0, (2) Child Behavior Checklist, (3) Children`s Depression Inventory, (4) The Wechsler Intelligence Scale for Children-Revised and (5) Continuous Performance Test. The cases in our study underwent neuropsychiatric evaluation 3-42 months after the diagnosis of ADEM had been established. RESULTS: Nine cases (81.8%) fully recovered without neurologic deficit. One case (9.1%) had a psychiatric disorder. During follow-up, cognitive and psychiatric problems were encountered in half of the cases (54.5%). Most of the cases with basal ganglia involvement (80%) displayed attention deficit and cognitive problems. CONCLUSION: In particular, cases with basal ganglia involvement should be followed carefully in terms of attention and cognitive problems.

Computed tomography vs. magnetic resonance imaging in unstable cervical spine injuries.

BACKGROUND: This study aimed to investigate the role of computed tomography (CT) in identifying missed unstable blunt cervical injuries. METHODS: Patients admitted to the emergency department between June 2014 and June 2018 with a diagnosis of blunt cervical trauma were included in this study. All participants underwent cervical magnetic resonance imaging (MRI) after an initial cervical CT investigation. All imaging results were reviewed, and decisions were taken by the consensus of a team consisting of an emergency medicine specialist, a neuroradiologist, and a neurosurgeon. Other variables included age, sex, the Glasgow Coma Scale, medical comorbidities, multi-trauma, neurological deficits, accompanying intracranial hemorrhage, extremity fractures, and the mechanism of the injury. RESULTS: Data for 195 patients were analyzed. The mean (±standard deviation) age of the participants was 47.34±21.90 years, and 140 (71.8%) were males. Eighteen patients (9.2%) were below age <18. The most frequent mechanism of injury was fall from height (n=100; 51.3%). Using MRI as the gold standard, the sensitivity of CT in diagnosing unstable cervical injury was 77.7% (95% CI [67.1-86.1]), while its specificity was 100.0% (95% CI [59.0-100.0]). CONCLUSION: Although computed tomography is relatively good in diagnosing unstable cervical injuries, its sensitivity in detecting positive cases is not as successful. Thus, the use of MRI in patients with an unstable injury seems to be warranted.

The Second Case of Saposin A Deficiency and Altered Autophagy.

Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A clinical manifestation almost identical to Krabbe disease is observed when, instead of the galactosylceramidase protein, the saposin A molecule is defective. Saposin A results from posttranslational processing of the precursor molecule, prosaposin, encoded by the PSAP gene. Clinical and neuroimaging findings in a 7-month-old child strongly suggested Krabbe disease, but this condition was excluded by enzymatic and genetic testing. However, at whole exome sequencing, the previously undescribed homozygous, obviously pathogenic PSAP gene NM_002778.3:c.209T>G(p.Val70Gly) variant was determined in the saposin A domain of the PSAP gene. Fibroblast studies showed GalCer accumulation and the activation of autophagy for the first time in a case of human saposin A deficiency. Our patient represents the second known case in the literature and provides new information concerning the pathophysiology of saposin A deficiency and its intralysosomal effects.