Comparing the shear bond strength of veneering materials to the PAEKs after surface treatments.

BACKGROUND: This study aimed to evaluate the impact of various surface treatments on the shear bond strength (SBS) of polyetheretherketone (PEEK) and polyetherketoneketone (PEKK) polymers to indirect laboratory composite (ILC) and lithium disilicate ceramic (LDC) veneering materials. METHODS: Polymer specimens (7 × 7x2 mm) were sectioned from PEEK and PEKK discs (N = 294) and randomly allocated to 7 groups (n = 20); untreated (Cnt), plasma (Pls), 98% sulfuric acid (Sa), sandblasting with 110 µm Al2O3 (Sb), tribochemical silica coating with 110 µm silica modified Al2O3 (Tbc), Sb + Sa, Tbc + Sa. Scanning electron microscopy assessments were performed on one sample of each treatment group, and veneering materials were applied to the remaining specimens (n = 10). The specimens were subjected to the SBS test after being soaked in distilled water (24 h, 37 °C). Three-way ANOVA, independent sample t-test, and Tukey HSD test were performed for statistical analyses (α = .05). RESULTS: The surface treatment, polymer, veneering material types, and their interactions were significant on SBS results according to the 3-way ANOVA (p < 0.001). The SBS values of ILC veneered groups were significantly higher than LDC groups, regardless of surface treatment and polymer type (p < 0.05). The highest SBS values were obtained for Sa-applied ILC veneered PEEK (21.55 ± 1.45 MPa) and PEKK (17.04 ± 1.99 MPa) polymer groups (p < 0.05). CONCLUSION: The effect of surface treatment and veneering materials may be significant on the SBS values of PAEKs. Therefore, the application parameters of surface treatments should be more specified for the applied veneering material and polymer type.

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

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.

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

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.

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

Background: 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.Methods: 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.Results: 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.Conclusion: 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.

Association of physical frailty with cognitive function and mood in older adults without dementia and depression

Background/aim: Physical frailty is thought to be related with a decline in cognitive function, mood, and social activities, especially in patients with depression and dementia. It is not clear whether or not physical frailty is associated with an impairment in cognitive function and mood in patients without dementia and depression. In this study, we evaluated the association of physical frailty with cognitive function and mood in geriatric patients without dementia and depression. Material and methods: In this study, 612 patients aged 65 years and over were evaluated. Physical frailty was assessed by using Fried criteria. Furthermore, comprehensive geriatric assessment was performed to each patient. Results: Median age of the patients was 72 years (min-max: 65­93), 58% were female, and 6.5% were frail. Clock drawing (p < 0.001), MMSE (p < 0.001), and Yesevage geriatric depression scale (p: 0.010) test results were worse in frail patients compared to pre-frail and robust ones. Age (p: 0.009), being university graduate (p: 0.031), three words recall test (p: 0.014), activities of daily living (ADL) (p: 0.006), instrumental activities of daily living (IADL) (p < 0.001), and MNA-SF (p: 0.001) scores were determined to be independent related factors of frailty. Conclusion: We have demonstrated that cognitive function and mood might be associated with physical frailty in patients without dementia and depression.

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

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.

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

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.

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

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.

Does Preoperative Comprehensive Geriatric Assessment and Frailty Predict Postoperative Complications?

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.

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

Purpose: 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.Materials and methods: 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.Results: 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 (p = .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 (p = .046).Conclusion: 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.

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

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.

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

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.

Management of Craniopharyngioma.

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 ±â€Š55.2 months). Among these, 25 were children (55.5%) with a mean age of 9.5 ±â€Š4.6 years and 20 were adults (45.5%) with a mean age of 37.2 ±â€Š12.7 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.

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

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 (p = 0.004, p = 0.008, and p = 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 (p < 0.001). CONCLUSION: We found a marked correlation between pediatric migraine and vitamin D levels. Vitamin D therapy was beneficial in migraine pediatric patients.

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

Background and aim: 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. Methods: 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. Results: 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 (p = 0.000, p = 0.015). In addition, patients who underwent DC within 24 h had better mean postoperative mRS scores (p = 0.000) than other patients. Patients older than 60 years had significantly lower GCS scores (p = 0.027) and higher mRS scores (p = 0.033) than younger patients. Conclusion: 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.

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

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 neutrophil­to­lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet­to­lymphocyte 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.

First cardiac manifestation of hypotonia-cystinuria syndrome.

Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. She also had dilated cardiomyopathy which differ from other reported patients. Therefore cardiomyopathy may also be considered one of the features of hypotonia-cystinuria syndrome. With this case report, we present cardiac manifestation of hypotonia-cystinuria syndrome for the first time. Because of two siblings had hyperechogenic bowel in prenatal sonography, it might be a prenatal marker for HCS.

A research on the genotoxicity of stevia in human lymphocytes.

Stevia extracts are obtained from Stevia rebaudiana commonly used as natural sweeteners. It is ∼250-300 times sweeter than sucrose. Common use of stevia prompted us to investigate its genotoxicity in human peripheral blood lymphocytes. Stevia (active ingredient steviol glycoside) was dissolved in pure water. Dose selection was done using ADI (acceptable daily intake) value. Negative control (pure water), 1, 2, 4, 8 and 16 µg/ml concentrations which were equivalent to ADI/4, ADI/2, ADI, ADI × 2 and ADI × 4 of Stevia were added to whole-blood culture. Two repetitive experiments were conducted. Our results showed that there was no significant difference in the induction of chromosomal aberrations and micronuclei between the groups treated with the concentrations of Stevia and the negative control at 24 and 48 h treatment periods. The data showed that stevia (active ingredient steviol glycosides) has no genotoxic activity in both test systems. Our results clearly supports previous findings.

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.

Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.

Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.