A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. CASE PRESENTATION: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy. CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.

Changes in surfactant protein A and D in ovine ovaries related to follicle development.

Surfactant protein A (SP-A) and Surfactant protein D (SP-D) glycoproteins play a crucial role in maintaining lung homeostasis and lung host defense. Interestingly, these proteins are also expressed in extra-pulmonary tissues, including the female genital tract. The ovarian tissue, where SP-A and SP-D expression increases with follicular development, may serve as the primary site of defense for this tissue. However, their functions in these tissues are not well understood and are currently an active area of research. Therefore, the objective of this study is to investigate the expression of SP-A and SP-D in the ovine ovary throughout the ovarian cycle using immunohistochemistry by semiquantitative intensity classification and Western blotting techniques. These findings revealed the presence of SP-A and SP-D in various compartments of the ovary, such as the follicular epithelium, granulosa cells, cumulus cells, theca cells, oocyte I, follicular fluid, and luteal cells of Graafian follicles, excluding the corpus albicans. SP-A and SP-D likely act as a first line of defense against potential pathogens that infiltrate the ovaries. Further investigation of the differential expression of SP-A and SP-D proteins in ovarian follicles will provide a basis for understanding their interactions with key proteins involved in oogenesis.

Baseline Characteristics of a Patient Cohort and Predictors of In-hospital MORtality in CORonary Care Units (MORCOR-TURK) Trial in Türkiye.

OBJECTIVE: The MORtality in CORonary Care Units in Türkiye (MORCOR-TURK) trial is a national registry evaluating predictors and rates of in-hospital mortality in coronary care unit (CCU) patients in Türkiye. This report describes the baseline demographic characteristics of patients recruited for the MORCOR-TURK trial. METHODS: The study is a multicenter, cross-sectional, prospective national registry that included 50 centers capable of 24-hour CCU service, selected from all seven geographic regions of Türkiye. All consecutive patients admitted to CCUs with cardiovascular emergencies between September 1-30, 2022, were prospectively enrolled. Baseline demographic characteristics, admission diagnoses, laboratory data, and cardiovascular risk factors were recorded. RESULTS: A total of 3,157 patients with a mean age of 65 years (range: 56-73) and 2,087 (66.1%) males were included in the analysis. Patients with arterial hypertension [1,864 patients (59%)], diabetes mellitus (DM) [1,184 (37.5%)], hyperlipidemia [1,120 (35.5%)], and smoking [1,093 (34.6%)] were noted. Non-ST elevation myocardial infarction (NSTEMI) was the leading cause of admission [1,187 patients (37.6%)], followed by ST elevation myocardial infarction (STEMI) in 742 patients (23.5%). Other frequent diagnoses included decompensated heart failure (HF) [339 patients (10.7%)] and arrhythmia [272 patients (8.6%)], respectively. Atrial fibrillation (AF) was the most common pathological rhythm [442 patients (14%)], and chest pain was the most common primary complaint [2,173 patients (68.8%)]. CONCLUSION: The most common admission diagnosis was acute coronary syndrome (ACS), particularly NSTEMI. Hypertension and DM were found to be the two leading risk factors, and AF was the most commonly seen pathological rhythm in all hospitalized patients. These findings may be useful in understanding the characteristics of patients admitted to CCUs and thus in taking precautions to decrease CCU admissions.

Cadaver preservative properties of a solution composed of honey, ethyl alcohol, liquid paraffin, distilled water and citric acid: Experiments on rabbit cadavers.

The objective of this study is to assess the efficacy of a solution including honey, ethyl alcohol, liquid paraffin, distilled water and citric acid (HEFS) as a preservative for rabbit cadavers, serving as a potential substitute for formaldehyde. The cadavers underwent preservation using three distinct solutions: 10% formalin, 35% alcohol and HEFS. The cadavers were subjected to a total of four sampling events, occurring at 4-month intervals, in order to collect specimens for microanatomical, histological, microbiological, mycological, colourimetric, texture and odour analysis. In terms of hardness, suitability for dissection and joint mobility metrics, the cadavers fixed with HEFS had superior qualities to those fixed with formalin. The fixation quality of HEFS for histological analyses was deemed acceptable, except kidney and intestinal tissues. In texture analysis, differences only in the elasticity parameter (p < 0.05) in the same sampling period. A total of 10 (13.9) bacteria isolates were identified among which, Metasolibacillus meyeri 3 (30%) was predominantly followed by Staphylococcus aureus 2 (20%), Bacillus siamensis, Bacillus subtilis, Pseudarthrobacter oxydans, Bacillus licheniformis, Bacillus subtilis subsp. subtilis with a proportion of 1 (10%), respectively, by both microbiological and molecular analysis. However, no anaerobic bacteria and fungi were isolated. A considerable percentage of the students had the perception that HEFS was appropriate for utilization in laboratory settings due to its absence of unpleasant odours and detrimental impact on ocular and respiratory functions. In conclusion, we consider that HEFS may serve as a viable substitute for formalin solution in the preservation of rabbit cadavers.

The Effect of Aortic Angulation on Clinical Outcomes of Patients Undergoing Transcatheter Aortic Valve Replacement.

INTRODUCTION: The aim of this study was to assess the impact of aortic angulation (AA) on periprocedural and in-hospital complications as well as mortality of patients undergoing Evolut™ R valve implantation. METHODS: A retrospective study was conducted on 264 patients who underwent transfemoral-approach transcatheter aortic valve replacement with self-expandable valve at our hospital between August 2015 and August 2022. These patients underwent multislice computer tomography scans to evaluate AA. Transcatheter aortic valve replacement endpoints, device success, and clinical events were assessed according to the definitions provided by the Valve Academic Research Consortium-3. Cumulative events included paravalvular leak, permanent pacemaker implantation, new-onset stroke, and in-hospital mortality. Patients were divided into two groups, AA ≤ 48° and AA > 48°, based on the mean AA measurement (48.3±8.8) on multislice computer tomography. RESULTS: Multivariable logistic regression analysis was performed to identify predictors of cumulative events, utilizing variables with a P-value < 0.2 obtained from univariable logistic regression analysis, including AA, age, hypertension, chronic renal failure, and heart failure. AA (odds ratio [OR]: 1.73, 95% confidence interval [CI]: 0.89-3.38, P=0.104), age (OR: 1.04, 95% CI: 0.99-1.10, P=0.099), hypertension (OR: 1.66, 95% CI: 0.82-3.33, P=0.155), chronic renal failure (OR: 1.82, 95% CI: 0.92-3.61, P=0.084), and heart failure (OR: 0.57, 95% CI: 0.27-1.21, P=0.145) were not found to be significantly associated with cumulative events in the multivariable logistic regression analysis. CONCLUSION: This study demonstrated that increased AA does not have a significant impact on intraprocedural and periprocedural complications of patients with new generation self-expandable valves implanted.

Effects of the protective and therapeutic effect of yogurt enriched with Citrus sinensis essential oil against ibuprofen-induced gastric ulcer in elderly rats.

The aim of this study was to evaluate the effect of Citrus sinensis essential oil (EO) on the proximate composition of yogurt over a 28-day shelf life and to investigate the therapeutic and prophylactic effects of functional yogurt on ibuprofen-induced gastric ulcers in a rat model. It was observed that the yogurt group containing C. sinensis EO had higher acidity, total solids, and ash values. Histologic evaluation of the stomachs of rats with gastric ulcers revealed that rats fed with functional yogurt had fewer lesions compared to the control group. The treatment group had fewer lesions than the positive control (p > 0.05). Lesions in the glandular mucosa of the prophylactic group were significantly lower than those in the positive control group (p < 0.05). Yogurt with C. sinensis EO may be beneficial in reducing the severity of ulcers and improving overall health.

The effect of body mass index on complications in cardiac implantable electronic device surgery.

BACKGROUND: Cardiac implantable electronic device (CIED) procedures are prone to complications. In our study, we investigated the effect of body mass index (BMI) on CIED-related complications. METHODS: 1676 patients who had undergone CIED surgery (de novo implantation, system upgrade, generator change, pocket revision or lead replacement) at two heart centers in Turkey and met the study criteria were included in our study. For analysis of primary and secondary endpoints, patients were classified as non-obese (BMI < 25 kg/m2 ), overweight (25 ≤ BMI < 30 kg/m2 ), and obese (BMI ≥ 30 kg/m2 ). The primary endpoint was accepted as cumulative events, including the composite of clinically significant hematoma (CSH), pericardial effusion or tamponade, pneumothorax, and infection related to the device system. Secondary outcomes included each component of cumulative events. RESULTS: The rate of cumulative events, defined as primary outcome, was higher in the obese patient group, and we found a significant difference between the groups (3.0%, 4.3%, 8.9%, p = .001). CSH and pneumothorax rates were significantly higher in the obese patient group (0.3%, 0.9%, 1.9%, p = .04; 1.0%, 1.4%, 3.3%, p = .04, respectively). According to our multivariate model analysis; gender (OR:1.882, 95%CI:1.156-3.064, p = .01), hypertension (OR:4.768, 95%CI:2.470-9.204, p < .001), BMI (OR:1.069, 95%CI:1.012-1.129, p = .01) were independent predictors of cumulative events rates. CONCLUSIONS: Periprocedural complications associated with CIED (especially hematoma and pneumothorax) are more common in the group with high BMI.

The Effect of Aortic Angulation on Clinical Outcomes of Patients Undergoing Transcatheter Aortic Valve Replacement

ABSTRACT Introduction: The aim of this study was to assess the impact of aortic angulation (AA) on periprocedural and in-hospital complications as well as mortality of patients undergoing Evolut™ R valve implantation. Methods: A retrospective study was conducted on 264 patients who underwent transfemoral-approach transcatheter aortic valve replacement with self-expandable valve at our hospital between August 2015 and August 2022. These patients underwent multislice computer tomography scans to evaluate AA. Transcatheter aortic valve replacement endpoints, device success, and clinical events were assessed according to the definitions provided by the Valve Academic Research Consortium-3. Cumulative events included paravalvular leak, permanent pacemaker implantation, new-onset stroke, and in-hospital mortality. Patients were divided into two groups, AA ≤ 48° and AA > 48°, based on the mean AA measurement (48.3±8.8) on multislice computer tomography. Results: Multivariable logistic regression analysis was performed to identify predictors of cumulative events, utilizing variables with a P-value < 0.2 obtained from univariable logistic regression analysis, including AA, age, hypertension, chronic renal failure, and heart failure. AA (odds ratio [OR]: 1.73, 95% confidence interval [CI]: 0.89-3.38, P=0.104), age (OR: 1.04, 95% CI: 0.99-1.10, P=0.099), hypertension (OR: 1.66, 95% CI: 0.82-3.33, P=0.155), chronic renal failure (OR: 1.82, 95% CI: 0.92-3.61, P=0.084), and heart failure (OR: 0.57, 95% CI: 0.27-1.21, P=0.145) were not found to be significantly associated with cumulative events in the multivariable logistic regression analysis. Conclusion: This study demonstrated that increased AA does not have a significant impact on intraprocedural and periprocedural complications of patients with new generation self-expandable valves implanted.

Effect of the Prognostic Nutrition Index on Long-Term Outcomes in Unprotected Left Main Coronary Artery Revascularization.

Objective    The prognostic nutritional index (PNI) is a practical, applicable, prognostic scoring system. However, its clinical significance in unprotected left main coronary artery (ULMCA) patients undergoing percutaneous coronary intervention (PCI) has not yet been clarified. This study aimed to examine the relationship between malnutrition as assessed by PNI and major adverse cardiac events (MACE) in ULMCA patients undergoing PCI.Material and methods    185 patients who were hospitalized in our clinic underwent coronary angiography, had a critical LMCA lesion, and underwent angiography-guided PCI were included. The study population was divided into tertiles based on the PNI values. A high PNI (n=142) was defined as a value in the third tertile (≥ 34.0), and a low PNI (n=43) was defined as a value in the lower 2 tertiles (< 34.0). The primary endpoint was MACE.Results    MACE and mortality rates in the low PNI group were significantly higher compared to the high PNI group (51 % vs. 30 %, p=0.009; 44 % vs. 20 %, p=0.002, respectively). High PNI (HR:1.902; 95 % CI:1.112-3.254; p=0.019), previous stroke (HR:3.025; 95 % CI:1.038-8.810; p=0.042) and SYNTAX score (HR:1.028; 95 % CI:1.004-1.057, p=0.023) were independent predictors of MACE in the multivariable cox regression analyzes.Conclusions    In patients undergoing ULMCA PCI, nutritional status can be considered an indicator of MACE rates by evaluating the PNI score. This index can be used for risk classification.

Evaluation of patients diagnosed with congenital hypothyroidism by newborn screening between 2011-2019 in Diyarbakir, Turkey.

This study aimed to determine the incidence of congenital hypothyroidism in Turkey's Diyarbakir Province and assess the development and growth conditions of people with congenital hypothyroidism. Patients born between 2011-2019 and diagnosed with congenital hypothyroidism within the scope of the newborn screening program were included. The medical records of these patients were retrospectively reviewed. The length and weight for age, weight for length, and body mass index standard deviation scores were calculated. We investigated the treatment status of the patients, whether their relatives had a similar disorder, and the presence of consanguinity between parents. Blood samples were collected from 380,592 newborns. As a result of further tests, 498 newborns were diagnosed with congenital hypothyroidism (incidence: 1/764). Demographic and anthropometric data of 241 patients were analyzed. The patients comprised 46.9% (n = 113) females and 53.1% (n = 128) males. It was determined that 44.4% of the individuals had transient congenital hypothyroidism and 53.6% had permanent congenital hypothyroidism. The parents of 29.8% of the individuals diagnosed with transient congenital hypothyroidism and 44.2% of the individuals diagnosed with permanent congenital hypothyroidism were consanguineous (P = .02). According to the latest anthropometric assessment, 6.8% of individuals diagnosed with congenital hypothyroidism had a weight z-score below -2 SD and 16.9% had a length z-score below -2 SD. The incidence of congenital hypothyroidism was higher in our region. The ratio of consanguinity between parents was higher in patients diagnosed with permanent congenital hypothyroidism than in those diagnosed with transient congenital hypothyroidism. According to the most recent follow-up, weight and age were found to be similar in patients with transient and permanent congenital hypothyroidism.

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

AIM: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). METHODS: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. RESULTS: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35 %) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25 %) cases. Four different variants were detected in 4 (4 %) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C > T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. CONCLUSION: Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.

Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience.

OBJECTIVES: To evaluate the clinical characteristics and treatment options of neonates requiring prolonged hospitalization due to persistent hyperinsulinemic hypoglycemia (HH). METHODS: This retrospective cohort study included infants >34 weeks of gestation at birth who were born in our hospital between 2018 and 2021, diagnosed with HH, and required diazoxide within the first 28 days of life. The baseline clinical characteristics, age at the time of diagnosis and treatment options in diazoxide resistance cases were recorded. Genetic mutation analysis, if performed, was also included. RESULTS: A total of 32 infants diagnosed with neonatal HH were followed up. Among the cohort, 25 infants were classified as having transient form of HH and seven infants were classified as having congenital hyperinsulinemic hypoglycemia (CHI). Thirty-one percent of the infants had no risk factors. The median birth weight was significantly higher in the CHI group, whereas no differences were found in other baseline characteristics. Patients diagnosed with CHI required higher glucose infusion rate, higher doses, and longer duration of diazoxide treatment than those in the transient HH group. Eight patients were resistant to diazoxide, and six of them required treatment with octreotide and finally sirolimus. Sirolimus prevented the need of pancreatectomy in five of six patients without causing major side effects. Homozygous mutations in the ABCC8 gene were found in four patients with CHI. CONCLUSIONS: The risk of persistent neonatal hyperinsulinism should be considered in hypoglycemic neonates particularly located in regions with high rates of consanguinity. Our study demonstrated sirolimus as an effective treatment option in avoiding pancreatectomy in severe cases.

Non-invasive Evaluation of Electromechanical Transmission in Patients with Hypertensive Response to Exercise Stress Test.

Objective: Excessive hypertensive response to exercise testing is associated with adverse cardiovascular events such as left ventricular hypertrophy and atrial fibrillation (AF). In this study, we examined the relationship between electromechanical delay and excessive hypertensive response to exercise testing. Methods: Twenty-five people who had a hypertensive response to the exercise stress test and 28 people who were similar in age and gender with a normal blood pressure response in the exercise stress test as the control group were included in the study. Results: There was no statistical difference between the study groups in blood pressure holter values, conventional echocardiography findings, and exercise stress test findings. Lateral PA-TDI time (the time from the beginning of the P wave measured by tissue Doppler imaging to the beginning of the A' wave), left atrial electromechanical delay, and interatrial electromechanical delay were observed to be significantly longer in the hypertensive response group to exercise stress test compared with the control group (74.0±6.3 vs. 68.8±5.7, p=0.003; 24.7±7.0 vs. 19.6±7.1, p=0.013; 36.8±8.5 vs. 30.6±6.6, p=0.003, respectively). Conclusions: Early detection of electromechanical delay non-invasively may be useful in this patient group in predicting the development of new AF risk.

Unusual case report of malignant pheochromocytoma presenting with STEMI.

Background: Pheochromocytomas (PHEOs) are a group of tumours that leads to multiple symptoms and can induce hypercoagulability and promote thrombosis. Pheochromocytomas may also present without elevated serum and urinary markers. We aimed to provide tips and tricks for the diagnostic and therapeutic management of an unusual case of PHEOs. Case summary: Thirty-four-year-old woman with the unremarkable medical history presented with epigastric pain and dyspnoea. Electrocardiogram showed ST-segment elevation in the inferior limb leads. She underwent an emergency coronary angiogram, which showed a high thrombus burden in the distal right coronary artery. A subsequent echocardiogram demonstrated a 31 × 33 mm right atrial mass adhering to the inferior vena cava and abdominal computed tomography (CT) scan revealed a 113 × 85 mm necrotic mass in the left adrenal bed, with tumour thrombus extending proximally to the confluence of hepatic veins immediately inferior to the right atrium and distally to iliac vein bifurcation. Blood parameters, thrombophilia panel, vanillylmandelic acid, 5 hydroxy indole acetic acid, and homovanillic acid levels were normal. Tissue sampling confirmed the diagnosis of PHEOs. The surgical procedure was not planned due to the presence of metastatic foci on imaging, including positron emission tomography (PET)-CT. Anticoagulation with rivaroxaban and treatment with 177Lu-DOTATATE-based peptide receptor radionuclide therapy (PRRT) was initiated. Discussion: The coexistence of arterial and venous thrombosis is extremely rare in patients with PHEOs. Multidisciplinary approaches are required for the care of such patients. Catecholamines likely contributed to the development of thrombosis in our patient. Early recognition of PHEOs is the key point to ameliorate clinical outcomes.

Catastrophic embolism of a suddenly ruptured isolated cardiac cyst hydatid: An unusual case report.

Hydatid cysts can be located in any organ or tissue system. Cardiac hydatid cyst is a rare, but fatal pathology. A 21-year-old male Syrian refugee patient with no previous known medical conditions was admitted to the hospital for chest pain and shortness of breath. He had increasing leg pain for 12 hours. Hydatid cyst rupture was detected on echocardiography. The peripheral artery thrombus and hydatid cyst membrane were removed with the embolectomy. The patient had renal and cranial infarctions. He underwent fasciotomy due to compartment syndrome. In conclusion, delayed diagnosis and treatment of cardiac hydatid cysts may result in a poor prognosis associated with the risk of rupture and is responsible for the spread of infection throughout the body as a result of the rupture. Even if there is an early diagnosis, surgical treatment supported by medical treatment is recommended very early.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders. They are both classified as, and it is suggested that these two disorders may share a common metabolic pathway. Current treatment strategies are based on levocarnitine, vitamin B2, and diet. Recent guidelines recommend a lysine-restricted diet up to six years of age, but there is no consensus for patients over the age of six. Vitamin B2 is exists in the blood as riboflavin and its cofactors, flavin mononucleotide and flavin adenine dinucleotide (FAD). FAD, the cofactor of L2HGD, accelerates the conversion of L-2-hydoxy glutarate to alpha-ketoglutarate. Levocarnitine stimulates the formation and excretion of derivatives of glutaric acid. Also, lysine-associated organic acidurias some results provide principal proof for the beneficial effects of riboflavin in GA-I. It has been previously reported that combination therapy with riboflavin and levocarnitine is effective for L2HGA as well as GA-I. Riboflavin and levocarnitine have been reported to improve not only clinical symptoms but also urinary 2-HGA levels. In our study, we aimed to evaluate the effect of the current treatment strategies and genotype on urinary metabolites and IQ scores in GA-I and L2HGA patients. Methods: The presented retrospective multicenter study included patients followed up in Diyarbakir Children's Hospital and Izmir Katip Celebi University Faculty of Medicine, Division of Pediatric Metabolism. Between 2016 and 2021, we retrospectively evaluated 35 patients with confirmed diagnosis of GA-I and L-2HGA. We analyzed the clinical, biochemical, neuroradiological, molecular data and treatment of the patients. The follow-up period was every 2 months until 12 months old, every 3 months until 6 years of age, and every 6 months thereafter. Therapy monitoring was undertaken during follow-up visits that included evaluation of clinical parameters, laboratory parameters, and dietary consumption records. Denver II was applied in order to evaluate children aged 0-6 years in terms of development. Patients between 6 and 16 years of age were evaluated using the Wechsler Intelligence Scale for Children-Revised. Results: We identified 25 with GA-I and 10 with L2HGA. The most common clinical symptoms were developmental delay, intellectual disability, and movement disorders. Behavioural problems were more common in L2HGA than in GA-I patients. In the same family, there were patients with severe developmental delay despite early diagnosis and treatment and individuals with normal IQ scores. In our study group, we used diet (lysine restricted or protein controlled), levocarnitine and vitamin B2 for GA-I patients. The mean urinary glutaric acid levels were decreased with treatment in GA-I patients. Group I consisted of 14/25 patients receiving lysine restricted diet and levocarnitine, Group II (8/25) received protein-controlled diet and levocarnitine. Group III (3/25) patients whom had p.Pro248Leu (P248L) variant, received riboflavin in combination with protein-controlled diet and levocarnitine. When we evaluated according to the treatment groups, a significant decrease was observed in urinary glutaric acid levels in group I. But there were no significant difference in Group II and III. The patients with c.1018C > T variant in GCDH gene had higher pre-treatment urinary metabolites and significant reduction in urinary metabolites with treatment was detected. In L2HGA patients, we used levocarnitine and vitamin B2. In all L2HGA patients, there was a significant decrease in the mean urinary 2- hydoxy glutarate with treatment. However, there was no significant difference between the c.164G > A and c.1115delT variants. The mean pre- and post-treatment IQ scores of GA-I patients, no significant difference was observed. Relative neurologic improvement was seen in three L2HGA patients. We found two novel variants, including the c.221A > G (p.Tyr74Cys) in the GCDH gene and the c.738 + 5A > G splice variant in the L2HGDH gene. Conclusions: Glutaric aciduria type I and L2HGA are the most common cerebral organic acidurias. Early and correct diagnosis is crucial. Poor prognosis based on metabolic crises and progressive deterioration still appears. In countries where newborn screening is not performed, a clinical suspicion index is required for cerebral organic aciduria. GA-I and L-2HGA are difficult to examine by medical evidence standards because of the small sample size, regional differences in newborn screening, and medical care limits. More clinical studies are needed to identify effective treatments. However, the significant decrease in urinary glutaric acid levels after treatment in patients on lysine-restricted diet raises the question of whether lysine-restricted diet should be continued after six years of age. We also reported our experience in order to contribute to the literature.

Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses.

Early puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrinology clinic with concerns about early puberty. Girls and their mothers who were admitted to endocrinology outpatient clinic with concerns about early puberty were compared to healthy control group. Screen for Child Anxiety Related Emotional Disorders (SCARED) parent form, Quality of Life for Children Scale (PedsQL) parent form, and Beck Anxiety Inventory (BAI) were administered to the mothers. Children were evaluated with the Schedule for Affective Disorders and Schizophrenia for School-Age Children (Kiddie-SADS Lifetime Version) (K-SADS-PL). The study sample consisted of 92 girls and 62 of them were administered to clinic with concerns about early puberty. There were 30 girls in early puberty group (group 1), 32 girls were in the normal development group (group 2), and 30 were in the healthy control group (group 3). The anxiety level of group 1 and group 2 was significantly higher, and their quality of life was significantly lower when compared to group 3 (p < 0.001). Mother's anxiety level was found significantly higher in group 2 (p < 0.001). It has shown that anxiety level and quality of life of children were associated with anxiety level of mothers and the current Tanner stage (r = 0.302, p < 0.005).    Conclusion: Mothers and children who have concerns about early puberty are negatively affected when early puberty is a possibility. For this reason, educating parents will prevent negative impacts of this situation on children. At the same time, it will decrease health burden. What is Known? • Early adolescence is one of the most common reasons for admission to pediatric endocrinology outpatient clinics. It is known that increasing early adolescence anxiety in the society causes cost and time losses in the field of health. However, studies investigating the reasons for this result are limited in the literature. What's New? • The level of anxiety increased significantly in girls with suspected precocious puberty and their mothers, and their quality of life was affected. • For this reason, we would like to emphasize the importance of multidisciplinary approaches before psychiatric disorders occur in children with suspected precocious puberty and their parents.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.

Left ventricular global longitudinal strain can detect subclinical left ventricular systolic dysfunction in adult patients with primary nephrotic syndrome.

It has been shown that there is an increased risk of cardiovascular events such as heart failure and death in nephrotic syndrome. Left ventricle global longitudinal strain (LVGLS) is a more sensitive measure of assessing myocardial dysfunction and is more reproducible than left ventricle ejection fraction (LVEF%). LVGLS can detectsubclinical deterioration in the left ventricle early. In this study, we aimed to investigate LVGLS in Primary Nephrotic Syndrome (PNS) patients with normal LVEF%. Patients with histopathologically confirmed PNS were evaluated for this prospective single-center study. Patients with similar age and gender characteristics without nephrotic syndrome were included as the control group. LVGLS measurements were performed by 2D speckle tracking echocardiography. A total of 171 patients, 57 with PNS and 114 in the control group, were included in the study. The mean age was 38±12 years in the study population, and 95(56%) of the patients were women. LVEF% was 60.2±4.2 in the PNS group and 61.1±3.2 in the control group, and there was no significant difference between the two groups (p=0.111). LVGLS was found to be significantly lower in the PNS group (-19.3±2.3% vs.-20.8±1.5 %, p<0.001). A significant relationship was observed between PNS and LVGLS in the multivariable linear regression analysis (ß= 4.428, CI 95% =0.57?1.48, p<0.001). A significant relationship was observed between PNS and LVGLS, and LVGLS was found to be lower in PNS patients. In patients with PNS, subclinical left ventricular systolic dysfunction may be detected in the early period by measuring LVGLS.

Dependence of clinical outcomes on time of hospital admission in patients with ST-segment elevation myocardial infarction.

BACKGROUND: There are conflicting results in studies investigating the effects of percutaneous coronary intervention (PCI) on the prognosis of patients with ST-segment elevation myocardial infarction (STEMI) during or outside of usual hospital working hours. While some researchers have reported higher mortality rates in STEMI patients admitted outside of working hours, others did not find a statistically significant difference. OBJECTIVES: Investigate the short-term endpoints and long-term outcomes of STEMI patients by time of admission. DESIGN: Retrospective SETTING: Tertiary percutaneous coronary intervention center. PATIENTS AND METHODS: Patients were grouped by admission, which consisted of four intervals: 06:00 to <12:00, 12:00 to <18:00, 18:00 to <24:00, and 24:00 to <06:00. We analyzed demographic, clinical and mortality by admission time interval and mortality by multivariate analyses, including the time intervals. MAIN OUTCOME MEASURES: Clinical data and mortality SAMPLE SIZE: 735 patients; median (IQR) age 62 (22) years; 215 (29.3%) women. RESULTS: Patients admitted at night were 1.37 times more likely to experience pulmonary edema than patients whose symptoms started in the daytime (P=.012); 32.9% of the patients whose symptoms started at night presented with Killip class II-IV, while during the daytime, 21.4% presented with Killip class II-IV (P=.001). Among the patients, the most common was inferior STEMI (38.6%). However, no-reflow was significantly higher during the daytime compared to the nighttime (P=.12). The risk of the cardiac arrest on admission was 1.2 times higher in patients admitted at night (P=.034). Neither time interval of admission nor several other variables had an effect on clinical outcome or mortality. CONCLUSIONS: While patients admitted at night presented with pulmonary edema and cardiogenic shock more frequently, no reflow was observed during the day after the procedure. Although patients admitted at night with STEMI presented with worse clinical conditions, similar results were observed between the groups in clinical outcomes. LIMITATIONS: More "real world" results might have been obtained if the study had replicated more typical referral conditions for PCI. CONFLICT OF INTEREST: None.