New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.

OBJECTIVES: Glycogen storage disease type V is caused by the mutations in muscle glycogen phosphorylase gene. This is the first report which DL-3-hydroxybutyric acid was used in combination with modified Atkins diet for the treatment of a patient with glycogen storage disease type V and quadriceps femoris shear wave elastography was performed to evaluate the treatment efficacy. CASE PRESENTATION: A 13-year-old girl was referred with fatigue and muscle cramps with exercise and there were no pathological findings in physical examination. Creatine kinase levels with 442 U/L. No phosphorylase enzyme activity was detected in muscle biopsy, a homozygous c.1A>G (p.M1V) pathogenic mutation was found in PYGM gene. She was started on DL-3-hydroxybutyric acid and modified Atkins diet at age 16. Her walking and stair climbing capacity increased, the need for rest during exercise decreased. The stiffness of the quadriceps femoris exhibited a reduction. CONCLUSIONS: DL-3-hydroxybutyric acid and modified Atkins diet may provide an alternative fuel and shear wave elastography may be useful in demonstrating treatment efficacy. More clinical and pre-clinical studies are obviously needed to reach more definite conclusions.

A Rare Cause of Urinary Incontinence in a Child: A Case of Tarlov Cyst and a Review of Literature.

Tarlov cysts are formed by ectasia of the perineural spaces around the spinal nerve roots in or distal to the dorsal root ganglion. The cerebrospinal fluid constitutes the cerebrospinal fluid content. Pathogenesis and clinical findings remain unclear. The majority of the defects are asymptomatic. However, in the case of nerve root or spinal cord compression, symptoms such as low back pain, radiculopathy, and bowel and bladder dysfunction occur. Tarlov cyst is rare, and there is limited data on its clinical findings and incidence. This study presents a 10-year-old child patient with urinary incontinence and a Tarlov cyst. This is an interesting case due to the limited data about Tarlov cysts in pediatric patients.

Cochlear Implantation in Inner Ear Malformations: Considerations Related to Surgical Complications and Communication Skills.

INTRODUCTION: There are particular challenges in the implantation of malformed cochleae, such as in cases of facial nerve anomalies, cerebrospinal fluid (CSF) leaks, erroneous electrode insertion, or facial stimulation, and the outcomes may differ depending on the severity of the malformation. The aim of this study was to assess the impact of inner ear malformations (IEMs) on surgical complications and outcomes of cochlear implantation. METHODS: In order to assess the impact of IEMs on cochlear implant (CI) outcomes, 2 groups of patients with similar epidemiological parameters were selected from among 863 patients. Both the study group (patients with an IEM) and control group (patients with a normal inner ear) included 25 patients who received a CI and completed at least 1 year of follow-up. Auditory performance, receptive and expressive language skills, and production and use of speech were evaluated preoperatively and at least 1 year after implantation. Types of surgical complications and rates of revision surgeries were determined in each group. RESULTS: In the study group, the most common malformation was an isolated enlarged vestibular aqueduct (EVA) (44.8%). Overall, the patients with IEMs showed significant improvement in auditory-verbal skills. In general, the patients who had normal cochleae scored significantly better compared to patients with IEMs (p < 0.05). The complication rate was significantly lower in the control group compared to the study group (p = 0.001), but the rate of revision surgeries did not differ significantly (p = 0.637). CONCLUSION: It is possible to improve communication skills with CIs in patients with IEMs despite the variations in postoperative performances. Patients with EVA, incomplete partition type 2, and cochlear hypoplasia type 2 were the best performers in terms of auditory-verbal skills. Patients with IEMs scored poorly compared to patients with normal cochleae. CSF leak (gusher or oozing) was the most common complication during surgery, which is highly likely in cases of incomplete partition type 3.

Thoracic Air Leak Syndrome, Pulmonary Aspergillosis, and COVID-19 Pneumonia After Allogeneic Stem Cell Transplantation in a Child With Myelodysplastic Syndrome.

Thoracic air leak syndromes (TALS) are very rare among the noninfectious pulmonary complications (PCs). They can either be idiopathic or have several risk factors such as allogeneic hematopoietic stem cell transplantation (allo-HSCT), graft versus host disease and rarely pulmonary aspergillosis. We present a 14-year-old girl with hypoplastic myelodysplastic syndrome who developed graft versus host disease on day 60, TALS on day 150, bronchiolitis obliterans syndrome on day 300, pulmonary aspergillosis on day 400 and COVID-19 pneumonia on day 575 after allo-HSCT. This is the first report of a child who developed these subsequent PCs after allo-HSCT. Therefore, the manifestations of these unfamiliar PCs like TALS and COVID-19 pneumonia, and concomitant pulmonary aspergillosis with management options are discussed.

Diaphragmatic Mesothelial Cyst: Radiological Appearance and Follow-Up Results During Childhood.

ABSTRACT: To identify radiological findings of diaphragmatic mesothelial cysts (DMC) in the pediatric age group and to assess follow-up outcomes.In this study, 27 pediatric age group patients were evaluated with ultrasonography (US), computed tomography (CT), or magnetic resonance imaging due to various clinical indications and diagnosed with DMC from May 2014 to September 2018. Age, sex, imaging indications and DMC localization, volumes in the first diagnosis, and follow-ups were retrospectively evaluated. Descriptive statistics were used for age, sex, imaging indications, and volume are presented as numbers and percentages.Ages range from 5 months to 13 years. Nine girls and 18 boys included in this study. The most common imaging indications were abdominal pain, diarrhea, and obesity. The mean volume of DMC was at first 2.62 and 2.45 mL during the follow-ups. There was volume reduction in 24 cases, and no change in 3 cases. Mean follow-up duration was 22.4 months. The US imaging findings were similar for all cases, bilobular cystic lesion with fat indentation between the cyst and liver parenchyma.The typical localization and lateral fat sign are useful in differential diagnosis of DMC from cystic lesions of liver. The US is a very effective and beneficial radiological method for diagnosis and follow-up. Routine clinical and sonographic follow-ups may be sufficient for asymptomatic patients with stable cyst volume.

The effect of chemotherapy type and timing among the other factors on patency of totally implantable vascular access devices in colorectal carcinoma.

PURPOSE: Catheter-related complications are observed in infusion of chemotherapy, and these were encountered with targeted therapies. Our principle is to study non-mechanical effects of type and initiation time of chemotherapy among the other factors on patency of totally implantable vascular access devices (TIVAD) inserted in patients with colorectal carcinoma. METHODS: This is a one-center retrospective cohort study. We analyzed TIVAD related complications in 624 patients with colorectal carcinoma. The patients were categorized by chemotherapy type (non-target-directed chemotherapy agents (Group A), bevacizumab (Group B), and cetuximab (Group C)). Additionally, we divided the patients into groups by the time interval between TIVAD insertion and chemotherapy initiation. According to our study, a 3-day period was optimal. Therefore, we named the groups as within 3 days and beyond 3 days, and called this process 3 days cut-off. Age, gender, jugular-subclavian access, platelet count, INR, the types of chemotherapy, and the initiation time of chemotherapy were investigated by survival tests. We compared chemotherapy type groups both one-by-one and combined into one group. RESULTS: The TIVADs were removed due to the complications in 11 patients of Group A, 6 patients of Group B, and 3 patients of Group C. Only chemotherapy type was significant (p = 0.011) in Cox regression test. A clear difference (p = 0.010) was detected between the catheter patency of Group A and combination of Groups B and C, because of skin necrosis and thrombosis. Within 3 days of their first chemotherapy day, an important difference between Group A and Group C (p = 0.013) was observed in the TIVAD patency. The same observation was made between Group A and Group B (p = 0.007). Beyond this period, no major difference was detected (p = 0.341). CONCLUSION: A major effect on catheter patency was detected by using the target-directed chemotherapy agent within 3 days, which should be considered in target-directed chemotherapy.

Evaluation of schwannoma using the 3D-SPACE sequence: comparison with the 3D-CISS sequence in 3T-MRI

Background/aim: The purpose of this study is to compare the diagnostic accuracy and interobserver reliability of the T2-weighted 3D-SPACE (three-dimensional sampling perfection with application-optimized contrasts by using different flip angle evolutions) sequence in comparison with T2-weighted 3D-CISS (three-dimensional constructive interference in steady state) sequences for diagnosis of schwannomas. Materials and methods: Forty patients with cerebellopontine angle (CPA), internal acoustic canal (IAC), and cochlear schwannoma who had undergone magnetic resonance imaging (MRI) using the 3D-CISS and 3D-SPACE sequences were identified. The sequences were retrospectively evaluated by two radiologists for the qualitative analyses, which were subsequently compared using the Mann­Whitney U test. Following this, kappa values were used for interobserver agreement. P < 0.05 was considered to be of statistical significance. Results: The interobserver agreement was found to be excellent between the two observers for the interpretation of all qualitative analyses for both sequences (kappa value > 0.8). The 3D-SPACE sequences demonstrated significantly better qualitative scores and fewer artifacts compared with the 3D-CISS sequences (p < 0.05). Conclusion: Our results demonstrate that 3D-SPACE is superior to 3D-CISS in the imaging process of the schwannoma in terms of image quality, description of the relationship between the lesion and cranial nerve, signal differentiation between lesion and cistern, and signal differentiation between the lesion and adjacent brain.

The Change in the Renal Pelvis Anterior-Posterior Diameter Between Prevoiding and Postvoiding Status, and Its Correlation With Vesicoureteral Reflux.

In this study, our aim was to evaluate the significance of the change in renal pelvis anterior-posterior diameter (RPAPD) before and after micturition between vesicoureteral reflux (VUR)-positive and -negative patients to whom had voiding cystourethrography (VCUG) was performed.In this study, 69 children, age ranging from 0 to 12 years, were included. Before the VCUG imaging, the RPAPD was measured first with a full bladder and then after urination via ultrasound (US). The differences between in RPAPD measurements were noted and values compared made among VUR-positive and -negative children. Data distribution was inhomogeneous, and the Wilcoxon Sign Rank test was utilized instead of Student t test. There was no statistically significant difference in prevoiding and postvoiding RPAPD in VUR (+) and VUR (-) patients (P = 0.672). There was no statistically significant relation between VUR and the presence of hydronephrosis (P = 0.126). Vesicoureteral reflux is more common in patients with urinary tract infections (UTI) (P = 0.001). There was no statistically significant relationship between prevoiding and postvoiding RPAPD change and VUR diagnosis (P = 0,164).Ultrasound is the modality of choice for urinary system evaluation. Diagnosis of hydronephrosis via US is not sufficient in predicting VUR; however, indirect findings may reveal the diagnosis. A decrease in RPAPD in postvoiding US evaluation may not rule out the VUR diagnosis for this reason further imaging modalities, such as VCUG, should be taken into consideration for the patients with clinical suspicion.

Obstructive jaundice and severe pancreatitis due to the foramen of Winslow hernia with multiple anomalies.

Internal hernia through the foramen of Winslow is a very rare condition, especially in children. Here we report a 16-month-old girl who presented with obstructive jaundice and elevation of pancreatic enzymes and was ultimately diagnosed with internal hernia and malrotation by radiologic investigation and open approach surgery. To the best of our knowledge, obstructive jaundice with pancreatitis and other congenital abnormalities in children with the foramen of Winslow hernia have not been reported previously in the literature.