Shear Wave Elastography in Patients with Spinal Muscular Atrophy Types 2 and 3.

INTRODUCTION: This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating muscle involvement. METHODS: Seventeen patients with SMA types 2 and3 were included in the study. SWE was used to evaluate stiffness of the upper and lower extremities and paraspinal muscles. Involvement of the paraspinal muscles was evaluated using 1.5-T MRI. RESULTS: Among the upper extremity muscles, SWE values were the highest for the triceps brachii; however, no significant difference was noted (p = 0.23). In post hoc analysis, a significant difference was observed between triceps brachii and biceps brachii (p = 0.003). Patients with a longer disease duration have the highest SWE values for the triceps brachii (r = 0.67, p = 0.003). Among the lower extremity muscles, SWE values for the iliopsoas were significantly higher than the gluteus maximus (p < 0.001). A positive correlation was found between SWE values and MRI scores of paraspinal muscles (r = 0.49, p = 0.045; r = 0.67, p = 0.003). CONCLUSION: This is the first study to report muscle involvement assessed by SWE in patients with SMA types 2 and 3. Our findings are similar to the presence of selective muscle involvement demonstrated in previous studies, and also SWE and MRI values were similar. SWE is an alternative noninvasive practical method that can be used to demonstrate muscle involvement in patients with SMA, to understand the pathogenesis of segmental involvement, and to guide future treatments or to monitor the effectiveness of existing new treatment options.

Evaluation of eating behaviors in childhood epilepsy with centrotemporal spikes: Case-control study.

BACKGROUND: Psychosocial and behavioral disorders have been reported in childhood epilepsy with centrotemporal spikes (CECTS). We aimed to identify the symptoms of eating disorders in CECTS. METHODS: Patients with CECTS were recruited from the pediatric neurology outpatient clinic between September 2019 and July 2020. The Children's Eating Behaviour Questionnaire (CEBQ) was administered to 39 patients and 31 controls. Patients' scores were compared with those of healthy subjects. RESULTS: There was no significant difference between the CEBQ of patients with CECTS and the control group (p > 0.05). There was no significant difference between the BMI of the patients with CECTS and the control group. In the patient group with CECTS, no significant difference was found in terms of CEBQ according to the antiepileptic drug used and EEG findings (p > 0.05). CONCLUSION: No difference was found in the eating habits of patients with CECTS compared with the healthy control group.

The peripheral blood inflammatory patterns in the control levels of asthma in children.

OBJECTIVE: Asthma is the most common chronic inflammatory disease of childhood, but there are no useful and easily accessible laboratory tests routinely used in the diagnosis and follow-up of this disease in children. Therefore, this study aimed to investigate the roles of white blood cell (WBC) count, platelet count, mean platelet volume (MPV), and eosinophil percentage as full blood count inflammatory markers in evaluating the control level and follow-up of asthma in the pediatric age group. METHODS: A retrospective review of patient records and files of 3,580 patients diagnosed with asthma at the University of Health Sciences in Ankara, Turkey was performed. Patients who met inclusion/exclusion criteria were divided into two groups based on the asthma control level: controlled and uncontrolled. Laboratory data were compared according to the asthma control levels, drug use status, and atopy status of the patients. RESULTS: A total of 348 patients between 4 and 18 years of age, who were followed-up with the diagnosis of asthma, were included in this study. A significant difference was found between the controlled and uncontrolled groups of asthma patients in terms of the eosinophil percentage (mean ± SD, respectively; 3.493 ± 2.24; 4.992 ± 3.43; p = .003). When patients were grouped according to their asthma control levels and atopy status, only the eosinophil percentages were different in the logistic regression analysis (odds ratio = 1.276, 95% confidence interval = 1.113-1.462). CONCLUSION: Our study showed that the percentage of eosinophils can be used as an asthma control parameter, but additional prospective studies would be desirable to confirm our results.

A comparative study of side-viewing duodenoscope and forward-viewing gastroscope to perform endoscopic retrograde cholangiopancreatography in patients with Billroth II gastrectomy.

BACKGROUND/AIM: Endoscopic retrograde cholangiopancreatography (ERCP) in patients with Billroth II gastrectomy is a difficult procedure. Although different endoscopes are used in these patients, comparative studies are limited. The aim of this study was to assess the efficacy and the safety of the forward-viewing gastroscope compared with the side-viewing duodenoscope. MATERIALS AND METHODS: This study was conducted on 75 Billroth II gastrectomy patients who underwent ERCP by the same experienced endoscopist. Procedures were performed using side-viewing duodenoscope in the first 41 patients and forward-viewing gastroscope in the subsequent 34 patients. The success and complication rates of ERCP were compared between the two groups. RESULTS: Afferent loop intubation was achieved in 39 patients (95.1%) in the side-viewing duodenoscope group and in 34 patients (100%) in the forward-viewing gastroscope group (P = 0.49). The rates of reaching the papilla was 70.7% (n = 29) and 91.1% (n = 31), respectively (P = 0.06). Cannulation success rate after reaching the papilla was 100% in the side-viewing duodenoscope group and 90.3% in the forward-viewing gastroscope group. In the side-viewing duodenoscope group, 11 patients underwent sphincterotomy (EST), 14 patients underwent both EST and endoscopic papillary balloon dilatation (EPBD), and 4 patients underwent only EPBD. All but one patients in the forward-viewing gastroscope group underwent EPBD without EST. The technical and the clinical success rate did not statistically differ between the groups (70.7% vs. 82.3%, 68.3% vs. 79.4%, respectively). Adverse events included jejunal perforation in one patient (2.4%) in the side-viewing duodenoscope group, and pancreatitis in one patient (2.9%) in the forward-viewing gastroscope group (P > 0.05). CONCLUSION: This study indicates that forward-viewing gastroscope is as effective as side-viewing duodenoscope for ERCP in patients with Billroth II gastrectomy. Furthermore, EPBD without prior EST appears to be a safe and effective procedure in these patients.

Predictive value of C-reactive protein/albumin ratio in acute pancreatitis.

BACKGROUND: Serum C-reactive protein (CRP) increases and albumin decreases in patients with inflammation and infection. However, their role in patients with acute pancreatitis is not clear. The present study was to investigate the predictive significance of the CRP/albumin ratio for the prognosis and mortality in acute pancreatitis patients. METHODS: This study was performed retrospectively with 192 acute pancreatitis patients between January 2002 and June 2015. Ranson scores, Atlanta classification and CRP/albumin ratios of the patients were calculated. RESULTS: The CRP/albumin ratio was higher in deceased patients compared to survivors. The CRP/albumin ratio was positively correlated with Ranson score and Atlanta classification in particular and with important prognostic markers such as hospitalization time, CRP and erythrocyte sedimentation rate. In addition to the CRP/albumin ratio, necrotizing pancreatitis type, moderately severe and severe Atlanta classification, and total Ranson score were independent risk factors of mortality. It was found that an increase of 1 unit in the CRP/albumin ratio resulted in an increase of 1.52 times in mortality risk. A prediction value about CRP/albumin ratio >16.28 was found to be a significant marker in predicting mortality with 92.1% sensitivity and 58.0% specificity. It was seen that Ranson and Atlanta classification were higher in patients with CRP/albumin ratio >16.28 compared with those with CRP/albumin ratio ≤16.28. Patients with CRP/albumin ratio >16.28 had a 19.3 times higher chance of death. CONCLUSION: The CRP/albumin ratio is a novel but promising, easy-to-measure, repeatable, non-invasive inflammation-based prognostic score in acute pancreatitis.

Management of suspected common bile duct stone: diagnostic yield of current guidelines.

BACKGROUND: The American Society for Gastrointestinal Endoscopy (ASGE) has recently published a guideline for suspected CBDS with the intention of reducing unnecessary ERCP and thereby complications. The aim of this study was to assess the diagnostic efficacy of the ASGE guideline. METHODS: Data of patients who underwent ERCP with suspected CBDS were analyzed retrospectively. Patients were classified into high, intermediate and low risk groups based on predictors that have been suggested by the ASGE. Very strong predictors of the presence of ductal stones included: CBDS on transabdominal ultrasonography (US), clinical ascending cholangitis or total bilirubin (TBIL) >4 mg/dL). Strong predictors included dilated CBD >6 mm on US with gallbladder in situ and TBIL level of 1.8-4.0 mg/dL whereas moderate predictor included abnormal liver biochemical test other than bilirubin, age more than 55 years and clinical findings of biliary pancreatitis. RESULTS: Of 888 enrolled patients, 704 had CBDS demonstrated by ERCP and the remainder did not. All very strong and strong predictors were found to be significantly higher among patients who had CBDS. Detection of CBDS by ultrasonography and a dilated common biliary duct were observed to be independent risk factors associated with the existence of CBDS. The high risk group had a high (86.7%) positive predictive value (PPV), however, sensitivity and specificity were observed to be moderate (67.8% and 60.3% respectively). PPV was 67.9% in the intermediate risk group and the sensitivity and specificity were very low (31.9% and 42.3%). DISCUSSION: The probability of CBDS was observed to be high in the intermediate and high risk groups. However due to low sensitivity and specificity values, the ASGE guideline needs additional or different predictors.

The effectiveness of aerobic exercise and neck exercises in pediatric migraine treatment: a randomized controlled single-blind study.

BACKGROUND: Migraine is a prevalent condition with debilitating effects. In the context of pediatric migraine, there exists a notable scarcity of data regarding the effectiveness of exercise interventions. Furthermore, despite the prevalent occurrence of neck pain in these patients, the role of cervical musculoskeletal disorders in the etiology continues to be a debated topic. AIMS: This study is aimed at evaluating the effectiveness of aerobic and neck exercises for treatment of pediatric migraine. METHODS: This randomized, controlled, single-blind trial included 51 pediatric migraine patients. Participants were divided into two groups: one performing aerobic exercise and the other performing neck exercises. Assessments included attack frequency, severity, duration, and neck pain for over 3 months. RESULTS: Both exercise groups exhibited significant reductions in the attack frequency, severity, and duration. After 3 months, the aerobic exercise group showed a lower attack frequency than the neck exercise group. Subgroup analysis involving patients with neck pain showed similar neck pain reduction but favored the aerobic exercise group for attack frequency and severity. CONCLUSIONS: Aerobic and neck exercises are effective in reducing the symptoms of pediatric migraine. Aerobic exercise may be particularly beneficial for reducing the attack frequency. These findings contribute to the limited data on exercise interventions for pediatric migraineurs and highlight the importance of tailored exercise programs for managing this condition. Future studies should consider more extensive exercise modalities and include diverse patient cohorts. TRIAL REGISTRATION: Clinicaltrials.gov ID: NCT0606875.

Association of epilepsy with neuroimaging patterns in children with cerebral palsy.

OBJECTIVES: In this study, we examined whether epilepsy and drug-resistant epilepsy are associated with neuroimaging findings in children with cerebral palsy (CP). METHODS: Magnetic resonance imaging classification system (MRICS) proposed by Surveillance of Cerebral Palsy in Europe (SCPE) was used for classification of different MRI patterns in patients with cerebral palsy. We reviewed the brain MRI scans and medical records of children with CP who were followed-up in our clinic between 2019 and 2023. Patients were divided into three categories: CP without epilepsy, CP with controlled epilepsy and CP with DRE. MRI patterns were grouped as maldevelopments, predominant white matter injury, predominant gray matter injury, miscellaneous (delayed myelination, cerebral atrophy, cerebellar atrophy, brainstem lesions and calcifications, lesions that were not classified under any other group) and normal according to MRICS of the SCPE. RESULTS: There were 325 CP patients. The most common MRI patterns were predominant white matter injury (47.6%) and gray matter injury (23.8%). There was a 1.5-fold reduction in the risk of epilepsy in patients with predominant white matter injury (OR = 1.54, 95% CI 1.23-1.94). In contrast, children in the miscellaneous group had significantly higher risks of epilepsy (p < 0.001), and we were able to determine that miscellaneous findings increased the risk by 1.8 times (OR = 1.77, 95% CI 1.47-2.12). CONCLUSION: In conclusion, more than half of the children with CP had epilepsy, 40.7% of whom had DRE. On MRI, miscellaneous findings may indicate a poor prognosis for epilepsy, while predominant white matter injury may indicate a good outcome. Children with CP, especially those with miscellaneous findings on MRI, should be closely monitored for epilepsy development.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. METHODS: We reviewed the charts of subjects with genetically confirmed childhood-onset HSP. The age at the disease onset was defined as the point at which the delayed motor milestones were observed. Delayed motor milestones were defined as being unable to hold the head up by four months, sitting unassisted by nine months, and walking independently by 17 months. If there were no delayed motor milestones, age at disease onset was determined by leg stiffness, frequent falls, or unsteady gait. Genetic testing was performed based on delayed motor milestones, progressive leg spasticity, and gait difficulty. The variant classification was determined based on the American College of Medical Genetics standard guidelines for variant interpretation. Variants of uncertain significance (VUS) were considered disease-associated when clinical findings were consistent with the previously described disease phenotypes for pathogenic variants. In addition, in the absence of another pathogenic, likely pathogenic, or VUS variant that could explain the phenotype of our cases, we concluded that the disease is associated with VUS in the HSP-causing gene. Segregation analysis was also performed on the parents of some patients to demonstrate the inheritance model. RESULTS: There were a total of 18 patients from 17 families. The median age of symptom onset was 18 months (2 to 84 months). The mean delay between symptom onset and genetic diagnosis was 5.8 years (5 months to 17 years). All patients had gait difficulty caused by progressive leg spasticity and weakness. Independent walking was not achieved at 17 months for 67% of patients (n = 12). In our cohort, there were two subjects each with SPG11, SPG46, and SPG 50 followed by single subject each with SPG3A, SPG4, SPG7, SPG8, SPG30, SPG35, SPG43, SPG44, SPG57, SPG62, infantile-onset ascending spastic paralysis (IAHSP), and spastic paraplegia and psychomotor retardation with or without seizures (SPPRS). Eight novel variants in nine patients were described. Two affected siblings had a novel variant in the GBA2 gene (SPG46), and one subject each had a novel variant in WASHC5 (SPG8), SPG11 (SPG11), KIF1A (SPG30), GJC2 (SPG44), ERLIN1 (SPG62), ALS2 (IAHSP), and HACE1 (SPPRS). Among the novel variants, the variant in the SPG11 was pathogenic and the variants in the KIF1A, GJC2, and HACE1 were likely pathogenic. The variants in the GBA2, ALS2, ERLIN1, and WASHC5 were classified as VUS. CONCLUSIONS: There was a significant delay between symptom onset and genetic diagnosis of HSP. An early diagnosis may be possible by examining patients with delayed motor milestones, progressive spasticity, gait difficulties, and neuromuscular weakness in the context of HSP. Eight novel variants in nine patients were described, clinically similar to the previously described disease phenotype associated with pathogenic variants. This study contributes to expanding the genetic spectrum of some rare subtypes of HSP.

Pneumatic Dilation in Geriatric Achalasia Patients.

BACKGROUND: The aim of the study was to share the effectiveness of pneumatic dilation in geriatric achalasia patients. METHODS: Achalasia patients over the age of 65 and those under the age of 65 as the control group who received pneumatic dilation as the first-line treatment were evaluated in the study. RESULTS: The average age of geriatric patients was 72.5 ± 55.92 years (65-90), with 50.3% of them being male. Follow-up was conducted for a mean of 64.52 ± 38.73 months. While pneumatic dilation was successful in 98.6% (141/143) of geriatric patients, it was also successful in 94% (141/150) of non-geriatric patients. Remission after single balloon dilatation was observed in 81.8% of geriatric patients, while it was observed in only 52.7% of non-geriatric patients (P = .000). When comparing remission after single dilatation and multiple dilatations, it was observed that geriatric patients who achieved remission after multiple balloon dilatation had higher lower esophageal sphincter pressure and Eckardt scores at the diagnosis and higher lower esophageal sphincter pressure and esophageal body resting pressures after the first balloon dilatation. CONCLUSIONS: The proportion of elders in the world population is increasing daily and this disease has been known to disproportionately afflict this group. Although surgical treatments, in particular per-oral endoscopic myotomy, have recently gained popularity as therapies for achalasia, pneumatic dilation remains the most commonly used in geriatric patients.

Evaluation of non-gastric upper gastrointestinal system polyps: an epidemiological assessment.

Non-gastric upper gastrointestinal system polyps are detected rarely and mostly incidentally during upper gastrointestinal endoscopy. While the majority of lesions are asymptomatic and benign, some lesions have the potential to become malignant, and may be associated with other malignancies. Between May 2010 and June 2022, a total of 127,493 patients who underwent upper gastrointestinal endoscopy were retrospectively screened. Among these patients, those who had polyps in the esophagus and duodenum and biopsied were included in the study. A total of 248 patients with non-gastric polyps were included in this study. The esophageal polyp detection rate was 80.00/100,000, while the duodenal polyp detection rate was 114.52/100,000. In 102 patients (41.1%) with esophageal polyps, the mean age was 50.6 ± 15.1, and 44.1% (n = 45) were male. The most common type of polyps was squamous papilloma (n = 61, 59.8%), followed by inflammatory papilloma (n = 18, 17.6%). In 146 patients (58.9%) with duodenal polyps, the mean age of patients was 58.3 ± 16.5, and 69.8% (n = 102) were male. Brunner's gland hyperplasia, inflammatory polyp, ectopic gastric mucosa, and adenomatous polyp were reported to be the most prevalent types of polyps in the duodenum overall (28.1%, 27.4%, 14.4%, and 13.7%, respectively). It is crucial to identify rare non-gastric polyps and create an effective follow-up and treatment plan in the era of frequently performed upper gastrointestinal endoscopies. The epidemiological assessment of non-gastric polyps, as well as a follow-up and treatment strategy, are presented in this study.

A Deep Learning Approach for Detecting Stroke from Brain CT Images Using OzNet.

A brain stroke is a life-threatening medical disorder caused by the inadequate blood supply to the brain. After the stroke, the damaged area of the brain will not operate normally. As a result, early detection is crucial for more effective therapy. Computed tomography (CT) images supply a rapid diagnosis of brain stroke. However, while doctors are analyzing each brain CT image, time is running fast. This circumstance may lead to result in a delay in treatment and making errors. Therefore, we targeted the utilization of an efficient artificial intelligence algorithm in stroke detection. In this paper, we designed hybrid algorithms that include a new convolution neural networks (CNN) architecture called OzNet and various machine learning algorithms for binary classification of real brain stroke CT images. When we classified the dataset with OzNet, we acquired successful performance. However, for this target, we combined it with a minimum Redundancy Maximum Relevance (mRMR) method and Decision Tree (DT), k-Nearest Neighbors (kNN), Linear Discriminant Analysis (LDA), Naïve Bayes (NB), and Support Vector Machines (SVM). In addition, 4096 significant features were obtained from the fully connected layer of OzNet, and we reduced the dimension of features from 4096 to 250 using the mRMR method. Finally, we utilized these machine learning algorithms to classify important features. As a result, OzNet-mRMR-NB was an excellent hybrid algorithm and achieved an accuracy of 98.42% and AUC of 0.99 to detect stroke from brain CT images.

Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.

In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM_003900.5:c.55G > T (p.Glu19*). Our case had brainstem lesions on brain magnetic resonance imaging that have not been previously reported. This novel finding expands the SQSTM1 gene-associated neuroradiologic spectrum. Homozygous SQSTM1 variant should be considered in the differential diagnosis in patients presenting with cerebellar findings, gaze palsy, and cognitive impairment to facilitate early diagnosis and genetic counseling.

Efficacy of Epinephrine Injection in Preventing Post-ERCP Pancreatitis.

BACKGROUND: Rectal indomethacin or a topical spray of epinephrine to the papilla of Vater has each shown efficacy alone in the prevention of post-endoscopic retrograde cholangiopancreatography pancreatitis (PEP). We supposed that a submucosal epinephrine injection would be more effective and longer acting than a topical epinephrine spray and therefore would further reduce the incidence of PEP. PATIENTS AND METHODS: A retrospective analysis was conducted of 412 patients who underwent endoscopic retrograde cholangiopancreatography (ERCP) between January 2017 and December 2019. These patients were divided into 2 groups: the indomethacin group and the indomethacin plus the submucosal epinephrine injection group. The incidence rates and severity of PEP, post-ERCP hyperamylasemia, other outcomes, and any other adverse events were compared between the groups. RESULTS: Baseline demographic and clinical characteristics and procedure-related parameters were similar between the 2 groups. The incidence of PEP was 0.4% in the epinephrine group compared with 5.1% in the indomethacin group (P<0.001). Post-ERCP hyperamylasemia occurred in 24.6% of patients in the indomethacin group, whereas 7.6% of patients in the epinephrine group developed this condition; the difference was significant (P<0.001). Postsphincterotomy bleeding occurred in 5 patients, all of whom were in the indomethacin group (P<0.001). Other adverse events, including arrhythmias, acute coronary events, stroke, or hypertension were not significantly different between the 2 groups. CONCLUSION: Addition of a submucosal epinephrine injection in conjunction with rectal indomethacin significantly reduced the incidence of PEP, post-ERCP hyperamylasemia, and postsphincterotomy bleeding.