Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey.

Evaluation of risk factors for recurrence of cutaneous adverse reactions due to anti-seizure medications in children: A retrospective study.

Cutaneous adverse reactions (CARs) are one of the most important reasons for anti-seizure medication (ASM) discontinuation in epilepsy. However, such discontinuations can cause an increase in seizures. This study investigates the risk factors for ASM-related rash recurrence in children.

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD.

Methods: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity.

Impacts of sustainable management on the spatial distributions of erosion susceptibility and probable sediment yield in a mixed-forested watershed.

Forest management practices play multifaceted roles in enhancing the geophysical properties that affect raindrop erosion in the watershed, and consequently, sediment deposition in the reservoir. The current work attempts to integrate empirical and physically-based modeling approaches to quantify the impacts of forest conservation on erosion risk and potential sediment accumulation in the mixed-forested Ogouchi Dam watershed in Japan. The reliability of the empirical model for estimating the total erodibility coefficient (TEr), as a function of various forest properties, was evaluated by applying the mathematical expression to multiple forest conditions and comparing the values to field-measured soil erosion rates.

Spread of Intestinal Parasites in Patients Presenting with Gastrointestinal Complaints.

Objective: The aim of this study is to determine the prevalence of intestinal parasites in patients admitted to University of Health Sciences Türkiye (UHS) Van Training and Research Hospital.

Methods: A total of 300 patients between the ages of 18-90 who applied to UHS Van Training and Research Hospital with gastrointestinal complaints and were referred to the parasitology laboratory between September 2021 and December 2021, and 100 patients without any chronic disease and gastrointestinal complaints in the control group were included in the study. Stool samples taken from patients included in the study and individuals in the control group were analyzed by native-lugol and modified acid-fast staining methods.

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Introduction: Congenital glycosylation disorders are multisystem diseases with heterogeneous clinical manifestations caused by defects in the synthesis of the glycan moiety of glycoproteins or glycolipids or the binding of glycans to proteins and lipids. DPAGT1 (UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1-phosphotransferase) is an initiating protein in the biosynthetic pathway of dolichol-linked oligosaccharides required for protein N-glycosylation. Pathogenic variants in (UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1-phosphotransferase) gene cause a rare type of congenital glycosylation disorder called DPAGT1-CDG (formerly CDG-Ij) (OMIM #608093).

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Background: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor.

Aims: Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management.

Temporal dynamics of Na/K pump mediated memory traces: insights from conductance-based models of neurons.

Sodium potassium ATPases (Na/K pumps) mediate long-lasting, dynamic cellular memories that can last tens of seconds. The mechanisms controlling the dynamics of this type of cellular memory are not well understood and can be counterintuitive. Here, we use computational modeling to examine how Na/K pumps and the ion concentration dynamics they influence shape cellular excitability.

The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective?

Objective: The aim of this study is to evaluate the effects of clinical and electroencephalographic features on spike reduction with a focus on the first EEG characteristics in self-limited epilepsy with centrotemporal spikes (SeLECTS).

Methods: This retrospective study was conducted on SeLECTS patients of with at least five years follow-up and at least two EEG recordings in which spike wave indexes (SWI) were calculated.

Results: 136 patients were enrolled.

Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy.

Background: Children with chronic neurological diseases, including spinal muscular atrophy (SMA), are particularly susceptible to vaccine-preventable infections. We aimed to evaluate the age-appropriate immunization status and its relationship with nusinersen therapy in pediatric patients with SMA.

Methods: Children with SMA who received nusinersen treatment were included in this cross-sectional prospective study.

Evaluation of vincristine-induced peripheral neuropathy in children with cancer: Turkish validity and reliability study.

Background: The evaluation of peripheral neuropathy in children receiving Vincristine treatment is challenging. This study examined the Turkish validity and reliability of the Total Neuropathy Score-Pediatric Vincristine (TNS-PV) measurement tool, which can measure Vincristine-induced peripheral neuropathy symptoms in children with cancer.

Methods: A total of 53 children aged 5-17 years who received Vincristine treatment in two pediatric hematology-oncology centers participated in the study.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Histopathological, immunohistochemical and biochemical evaluation of electroacupuncture treatment of nervus radialis and nervus ulnaris injuries in rabbits.

The aim of this study was to evaluate the efficacy of electroacupuncture in acute and chronic phases of radial and ulnar nerve injuries in histopathological, immunohistochemical and biochemical aspects. In the study, the rabbits were divided into four groups namely acute nerve injury (ANI) group, chronic nerve injury (CNI) group, positive control (PC) group and negative control (NC) group. In the ANI, CNI and PC groups, damage was created on the nervus radialis and nervus ulnaris by applying pressure for 60 seconds using a hemostatic forceps under anesthesia.

Examination of the psychometric properties of pediatric-modified total neuropathy score in Turkish children with cancer.

Background: Evaluation of chemotherapy-induced peripheral neuropathy has gained importance in symptom management of pediatric patients with cancer. This study aimed to perform the Turkish validity and reliability study of the Pediatric-Modified Total Neuropathy Score (Ped-mTNS).

Methods: A methodological, descriptive, and cross-sectional design was used in the study.

Sural Sparing Pattern and Sensory Ratio as Electrodiagnostic and Prognostic Markers in Pediatric Guillain-Barré Syndrome.

Background: We aimed to evaluate the presence of sural sparing pattern (SSP) and sensory ratio in pediatric Guillain-Barré syndrome (GBS), their distribution to subtypes, and their relationship with demographic and clinical features with a focus on the disability and muscle strength.

Methods: This single-center retrospective study was conducted on pediatric GBS patients of both sexes with 2 years follow-up and two nerve conduction studies in which SSP and sensory ratio were calculated. Three subgroups of SSP were formed by separate calculation of median (SSP-m) and ulnar (SSP-u) and both median and ulnar sensory nerve action potentials (SNAPs; SSP-total).

Optic neuritis in CD59 deficiency: an extremely rare presentation.

Background: CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system attacks have been reported in patients with inherited CD59 deficiency. In this paper, we report a patient with CD59 deficiency associated with two attacks of demyelinating peripheral neuropathy and the third attack as an isolated optic neuritis.

Recurrent painful ophthalmoplegic neuropathy: a report of two new pediatric cases.

Background: Recurrent painful ophthalmologic neuropathy (RPON), formerly known as ophthalmoplegic migraine, is characterized by repeated attacks of one or more ocular cranial nerve palsies with an ipsilateral headache. While steroid therapy has been reported to be beneficial for attacks, no clear consensus on prophylactic treatments exists. We present two cases emphasizing the diagnostic significance of the loss of enhancement during the symptom-free period and valproate as a beneficial option in prophylaxis.

The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy.

Introduction: We evaluated the effect of nusinersen on clinical and laboratory parameters and presented its safety and effect on laboratory parameters.

Methods: Two groups were formed from among patients with spinal muscular atrophy (SMA) followed up between September 2017 and June 2021: group 1, SMA type 1; group 2, SMA type 2 and 3. The laboratory parameters were evaluated in groups 1 and 2 between doses.

Is Stage 2 idiopathic osteonecrosis of the hip joint associated with version angles on imaging methods?

Objectives: In this study, we aimed to investigate whether anatomical variations of acetabulum were associated to idiopathic osteonecrosis (ON) of the femoral head.

Patients And Methods: Between January 2014 and March 2020, a total of 46 patients (32 males, 14 females; mean age: 43 years; range, 18 to 66 years) who were diagnosed with unilateral or bilateral ON of the hip joint and 44 healthy age- and sex-matched controls (30 males, 14 females; mean age: 46 years; range, 18 to 79 years) with no signs of ON of the hip joint were retrospectively analyzed. For both groups, measurements were taken of the anatomic parameters, including the acetabular version angle (VA), the sharp angle (SA), and the center-edge angle (CEA) on anteroposterior pelvic radiographs and magnetic resonance imaging (MRI) scans.

The infants who have mature hip on ultrasonography but have risk factors of developmental dysplasia of the hip are required radiographic examination.

Objectives: This study aims to evaluate the short-term results of infants who were radiologically diagnosed with developmental dysplasia of the hip (DDH), but in whom hip development was normal ultrasonographically.

Patients And Methods: Between January 2018 and September 2020, a total of 15 infants (2 males, 13 females; median age: 5 months; range, 4 to 6 months) who were diagnosed with DDH radiologically and treated were retrospectively analyzed. Hip ultrasonography was used for early diagnosis, treatment, and for follow-up in infants up to six months of age.