Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders.

Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements. Cerebellar vermis agenesis and molar tooth signs are distinct on cerebral magnetic resonance imaging (MRI). Children with JSRD present with delayed psychomotor development, including intellectual disability and emotional or behavioral problems. Rehabilitation treatments are provided to promote psychomotor development. However, limited reports and evidence exist on rehabilitation treatments for children with JSRD. Three children with JSRD received rehabilitation treatment. The children received rehabilitation treatment once a week to once every one to two months at our hospital and/or other facilities. All patients received physical, occupational, and speech-language-hearing therapy, depending on their symptoms and conditions. In children with tracheostomies due to abnormal respiration, respiratory physical therapy and speech-language-hearing therapy, including augmentative and alternative communication, were needed. For hypotonia and ataxia, an orthotic intervention was considered in all three cases, and foot or ankle-foot orthoses were used in two cases. Although there is no specific or established rehabilitation method for children with JSRD, appropriate rehabilitation approaches, including physical, occupational, speech-language-hearing therapies and orthotic intervention, should be considered and provided to improve their function and expand their activity and participation. Orthotic intervention for hypotonia seems reasonable for improving gross motor development and function in children with JSRD.

Subtle Crucial X-Ray Findings in Pediatric Foreign Body Aspiration.

Foreign body aspiration (FBA), with potentially life-threatening outcomes, is not unusual in the pediatric population. We report two cases of lobar bronchial radiolucent foreign bodies. Chest X-ray (CXR) showed a slight but significant finding of lobar emphysema without a significant mediastinal shift. This is possibly a key to suspecting foreign bodies. In the clinical field, a stepwise approach to detecting foreign bodies is commonly performed, from less invasive options such as CXR to computed tomography (CT). In this context, clinicians should scrupulously check CXRs when pediatric patients complain of respiratory symptoms, especially with potential FBA history.

A 5-year-old boy with acute neurological disorder from anteflexion-induced cervical cord compression after tracheal surgery: Radiological findings similar to Hirayama disease.

Constant neck flexion has been considered crucial to reducing anastomotic tension after tracheal resection. However, in rare cases, anteflexion can cause cervical cord damage, leading to acute neurological disorders such as tetraplegia. Here, we report a case of 5-year-old boy presenting with acute neurological disorder triggered by a chin-to-chest position over 4 days of deep sedation after cricotracheal resection. The radiological findings would suggest a mechanism similar to Hirayama disease, in which a shift of the dura leads to chronic muscular weakness and atrophy in young populations.

The usefulness of ultrasound examination in detecting testicular nubbin in Japanese boys with non-palpable testes.

INTRODUCTION AND OBJECTIVE: In the case of non-palpable testes, we often find a small nodule which is called "testicular nubbin (TN)" in scrotum or inguinal canal. There is no agreement about the treatment for TN. This time we investigated whether or not ultrasound examination (US) can be a useful modality for detecting TN. MATERIALS AND METHODS: We recruited 66 boys who were diagnosed with non-palpable testes and who had undergone US studies. We examined age, affected side, size of the unaffected side, presence of testicular hypertrophy, and findings from US studies. Radiologists or sonographers familiar with examination of testicular nubbin carried out the ultrasound studies. When TN is detected in a patient, preservation or excision of the TN was chosen by their families. RESULTS: Sixty-six boys and 76 testes were examined. Thirty-four testes (44.7%) were diagnosed as having TN, 39 (51.3%) were undescended testes, and 3 (3.9%) were retractile testes. The median age of all participants was 13 months (range: 2-118 months). The mean ages of patients with TN, undescended testes, and retractile testes were 7.6 months, 14.5 months and 55 months, respectively. The size ratio between the affected and unaffected sides in cases of TN was 0.144 (range; 0.03-0.48) and in cases of undescended testes was 0.99 (0.46-1.2). Thirty cases of TN (88.2%) had testicular hypertrophy on the unaffected side. Only one case of TN underwent excision; viable cells were not seen. A high US region was observed in 31 (91.1%) cases with TN. CONCLUSION: US was a useful modality for detecting TN. From this study, TN can be detected if the size ratio between the affected and unaffected sides is < 0.4 and a high US region is seen. If TN can be detected using US, preservation can recommended, preventing unnecessary surgeries. However, there is no evidence on the required duration and interval of follow-up for these cases and examination will be needed over a period of time.

Ureteral dilatation detected in magnetic resonance imaging predicts vesicoureteral reflux in children with urinary tract infection.

OBJECTIVE: Urinary tract infection (UTI), one of the most common bacterial infections occurring during infancy and early childhood, is frequently associated with vesicoureteral reflux (VUR). Although several guidelines recommend performing ultrasonography as a screening test, its utility is not adequate and appropriate screening tests are strongly desirable. In this study, we evaluate the use of magnetic resonance imaging (MRI) as a screening test for VUR in children with UTI. METHODS: We prospectively studied 108 patients with suspected UTI between April 2014 and March 2016. UTI was diagnosed on the basis of diffusion-weighted MRI (DW-MRI) and urine culture findings. We measured ureteral dilatation using MRI in 96 patients with UTI and assessed the relationship between ureteral dilatation in MRI and VUR in 46 patients who underwent voiding cystourethrography (VCUG). RESULTS: Among 108 patients, 88 and 8 were diagnosed with upper and lower UTI, respectively. Among 46 patients who underwent VCUG, 23 had VUR (14 low grade and 9 high grade). Patients with ureteral dilatation detected on MRI had VUR more frequently than those without ureteral dilatation (any grades VUR, 71% vs. 32%; P = 0.02; high-grade VUR, 38% vs. 2%, P = 0.007). Overall, ureteral dilatation findings on MRI achieved sensitivity 65.2% and specificity 73.9% as a screening test for VUR. In addition, DW-MRI achieved sensitivity 100% and specificity 81.8% in the diagnosis of upper UTI. CONCLUSION: These findings suggested that MRI is a valuable tool for screening of VUR as well as diagnosis of upper UTI.

Ovarian fibroma with marked ascites and elevated serum levels of CA-125 in a young girl.

We report a case of ovarian fibroma with marked ascites and elevated serum CA-125 levels in a young girl. Ovarian fibromas are rare in children. They usually present as a solid mass and may be associated with ascites and elevated serum CA-125 levels. Because of their solid nature and these associations, they can be mistaken for a malignant tumor, resulting in unnecessary oophorectomy. Ovarian fibromas are benign neoplasms, and the prognosis is extremely good. Surgical management should be an ovarian-sparing tumor excision. Although uncommon in pediatric patients, ovarian fibromas should be included in the differential diagnosis of ovarian mass in children.

Transcatheter arterial embolization for segmental arterial mediolysis.

PURPOSE: To report outcomes of transcatheter arterial embolization for segmental arterial mediolysis (SAM), a vascular disorder characterized by angiographically documented fusiform aneurysms separated by areas of normal appearing vessel in the celiac or mesenteric arteries. CASE REPORTS: Four patients (3 men; median age 70 years, range 57-77) had a presumptive diagnosis of SAM; the possibility of vasculitis was ruled out based on clinical and laboratory findings. Three patients were symptomatic, with aneurysm rupture; the fourth patient was diagnosed incidentally. Coil embolization was used in 3 cases and N-butyl cyanoacrylate in the other. There was no re-rupture. One patient developed a focal dissection of the superior mesenteric artery 9 months after middle colic artery embolization. Another patient died of perforation of the lower gastrointestinal tract 3 months after treatment, but the cause was unknown; mesenteric ischemia from embolization and arteriopathy could not be ruled out. CONCLUSION: Transcatheter embolization is useful for SAM. However, it is likely that the morphology associated with SAM transforms rapidly, so patients undergoing mesenteric artery embolization should be monitored at short intervals.

Expression of human tyrosine kinase, Lck, in yeast Saccharomyces cerevisiae: growth suppression and strategy for inhibitor screening.

We report the successful expression and detection of a phosphorylated form of human T cell tyrosine kinase, Lck, in Saccharomyes cerevisiae, which leads to growth suppression of the yeast cells. Expression of an inactive Lck mutant resulted in no phosphorylation and no growth suppression, indicating that cell growth inhibition by Lck is due to the activity of the kinase, consistent with the observed tyrosine-phosphorylation of the Lck and yeast host cell proteins. The addition of a known inhibitor of Lck to the cell culture resulted in recovery of cell growth expressing the active Lck, suggesting that the growth inhibition by lck gene expression can be used to screen inhibitors for the gene product. We have extended such approach to Tob, another potential therapeutic target.