Patterns in paternal and maternal filicide: A comparative analysis of filicide cases in Turkey.

Filicide is the act of a parent killing their own offspring. Previous studies indicate that there are both commonalities and distinctions between filicides committed by mothers and fathers. The main objective of this study was to compare maternal and paternal filicide with a major focus on clinical and sociodemographic features of perpetrators, incident details, and victims.

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.

Background: Hyperphenylalaninemia (HPA) is defined as blood phenylalanine (Phe) levels exceeding the normal values (>120 μmol/L or >2 mg/dL) and is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). The widespread screening of Phe levels in newborn screening programs has led to a very high number of patients with HPA.

Methods: The samples were collected at various ages, not at the point of diagnosis.

A very rare presentation of mitochondrial elongation factor Tu deficiency- 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.

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Objectives: Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy.

Intestinal microbiota composition of children with glycogen storage Type I patients.

Aim: Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake of complex carbohydrates (supplied by uncooked cornstarch), restriction of sugars, and a lower amount of lipids. There is limited information about the dietary regimen in patients with GSD, which might affect the intestinal luminal pH and microbiota composition. The aim of this study to investigate the intestinal microbiota composition in patients with GSD receiving diet treatment.

Recovery of phenolic compounds from peach pomace using conventional solvent extraction and different emerging techniques.

The study compared high-pressure, microwave, ultrasonic, and traditional extraction techniques. The following extraction conditions were implemented: microwave-assisted extraction (MAE) at 900 W power for durations of 30, 60, and 90 s; ultrasonic-assisted extraction (UAE) at 100% amplitude for periods of 5, 10, and 15 min; and high-pressure processing (HPP) at pressures of 400 and 500 MPa for durations of 1, 5, and 10 min. The highest yield in terms of total phenolic content (PC) was obtained in UAE with a value of 45.

Assessing the Release of Microplastics and Nanoplastics from Plastic Containers and Reusable Food Pouches: Implications for Human Health.

This study investigated the release of microplastics and nanoplastics from plastic containers and reusable food pouches under different usage scenarios, using DI water and 3% acetic acid as food simulants for aqueous foods and acidic foods. The results indicated that microwave heating caused the highest release of microplastics and nanoplastics into food compared to other usage scenarios, such as refrigeration or room-temperature storage. It was found that some containers could release as many as 4.

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.

Objectives: Fabry disease is an X-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. The enzyme deficiency leads to progressive accumulation of globotriaosylceramide (Gb-3) and its deacetylated form lyso-Gb3 in various tissue lysosomes that results in primarily lysosomal deterioration and subsequently mitochondrial, endothelial, and immunologic dysfunctions.

Methods: The endocrinological, metabolic, immunological and HLA status of 12 patients were evaluated.

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.

Background And Objective: Pompe disease (PD) is an inherited lysosomal storage disease that progresses with glycogen accumulation in many tissues, due to the deficiency of the acid-alpha glucosidase enzyme. Recombinant alglucosidase alfa (rhGAA) is the only disease-specific treatment option, in the form of enzyme replacement therapy (ERT). Anaphylaxis can develop with rhGAA.

Is virtual reality training superior to conventional treatment in improving lower extremity motor function in chronic hemiplegic patients?

Objectives: This study aims to examine the effect of virtual reality (VR) training, frequently included in rehabilitation programs, on lower extremity functional status, mobility, balance, and walking speed in chronic stroke patients.

Patients And Methods: This randomized, controlled study was conducted with 60 chronic stroke patients (26 males, 34 females; mean age: 64.0 years; range, 33 to 80 years) who presented to the physical therapy and rehabilitation outpatient clinic of the Kütahya Health Sciences University Evliya Çelebi Training and Research Hospital between February 2019 and February 2020.

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Background: Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss and nocturnal feeding is a risk factor for the development of gastroesophageal reflux that may cause chronic otitis media and hearing loss consequently.

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Objective: To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB.

Study Design: Sixty-five children with a confirmed diagnosis of MPS IIIB were enrolled into 1 of 2 natural history studies and followed for up to 4 years. Cognitive and adaptive behavior functions were analyzed in all subjects, and volumetric magnetic resonance imaging analysis of liver, spleen, and brain, as well as levels of heparan sulfate (HS) and heparan sulfate nonreducing ends (HS-NRE), were measured in a subset of subjects.

Fertility Desire and Motivation Among Individuals with Gender Dysphoria: A Comparative Study.

Despite receiving Gender-Affirming Hormone Therapy or Gender-Affirming Surgery, which may adversely impact their fertility, people with Gender Dysphoria (GD) may desire to form families. In this study, we aimed to quantitatively display fertility desire from the perspective of these individuals, despite all the legal challenges they face. The single center, cross-sectional comparative study included individuals with GD and cisgender volunteers.

Dual-task training effect on gait parameters in children with spastic diplegic cerebral palsy: Preliminary results of a self-controlled study.

Background: Children with cerebral palsy (CP) may have difficulties under dual-task conditions. Spatiotemporal gait parameters have deteriorated with concurrent tasks in children with CP. However, how dual-task training affects gait parameters in children with spastic diplegic CP has not been clarified.

Which high-intensity interval training program is more effective in patients with coronary artery disease?

The aim of the study is to examine high-intensity interval training (HIIT) programs and a moderate-intensity continuous training (MICT) program, which are frequently used in cardiac rehabilitation programs in terms of their effects on the functional capacity and quality of life of patients with coronary artery disease (CAD). The study included 20 patients with CAD (mean age, 60.95 ± 5.

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in .

Objectives: Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by , and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with recurrent episodes of metabolic acidosis, hypoglycemia, hypertriglyceridemia, and hyperketonemia are present.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Objectives: To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis.

Methods: The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed.

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.

Background: The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 children with MPS VI who were followed up at the Department of Pediatrics of the Gazi University Faculty of Medicine in Ankara, Turkey were retrospectively collected from the patients' medical records. Patients were selected based on availability of a pre-ERT baseline and follow-up clinical data for a similar period of time (1.

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient.

Objectives: Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA antibodies and infusion-associated reactions (IAR) restrict the tolerability and effectiveness of the treatment.

Case Presentation: We describe a successful concomitant immune tolerance induction (ITI) and desensitization protocols in a cross-reactive immunologic material (CRIM) negative 7-month-old male patient. At the age of 5 months and eighth dose of the ERT, the patient developed IAR and his rhGAA specific IgE was negative however, his rhGAA specific IgG titer was as high as 12,800.

A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia.