The Cullin3-Rbx1-KLHL9 E3 ubiquitin ligase complex ubiquitinates Rheb and supports amino acid-induced mTORC1 activation.

Mechanistic target of rapamycin complex 1 (mTORC1) is recruited to the lysosomal membrane by the active Rag heterodimer, where mTORC1 interacts with active Rheb for its activation. It has been shown that polyubiquitination of Rheb is crucial for enhancing its interaction with mTORC1 on the lysosome. However, the specific ubiquitin ligases for Rheb, which promotes mTORC1 activation, remain elusive.

mTORC1 signaling and diabetic kidney disease.

Diabetic kidney disease (DKD) represents the most lethal complication in both type 1 and type 2 diabetes. The disease progresses without obvious symptoms and is often refractory when apparent symptoms have emerged. Although the molecular mechanisms underlying the onset/progression of DKD have been extensively studied, only a few effective therapies are currently available.

Quality of Life and Bladder Symptoms in Adolescents and Young Adults With Spina Bifida Who Catheterize via Urethra vs Catheterizable Channel.

Purpose: We sought to assess associations between health-related quality of life (QOL), bladder-related QOL, bladder symptoms, and bladder catheterization route among adolescents and young adults with spina bifida.

Materials And Methods: Clinical questionnaires administered to individuals ≥ 12 years old requiring catheterization between June 2019 to March 2020 in a spina bifida center were retrospectively analyzed. Questionnaires were completed in English or Spanish independently or with caregiver assistance.

Association Between Quality of Life and Neurogenic Bowel Symptoms by Bowel Management Program in Spina Bifida.

Objective: To compare differences in bowel-specific quality of life (QOL), overall qQOL, and neurogenic bowel dysfunction (NBD) severity by bowel management program in patients with spina bifida (SB).

Methods: We performed a retrospective cross-sectional study of patients ≥12 years old at our multidisciplinary SB center who completed both a modified Peristeen NBD questionnaire (assessing bowel symptom severity and bowel-specific QOL) and the Patient-Reported Outcomes Measurement Information System Pediatric Global Health questionnaire (assessing overall QOL). Nested, multivariable models were fit for associations between outcomes and bowel management program (enemas, conservative management, and none).

Resident muscle stem cell myogenic characteristics in postnatal muscle growth impairments in children with cerebral palsy.

Children with cerebral palsy (CP), a perinatal brain alteration, have impaired postnatal muscle growth, with some muscles developing contractures. Functionally, children are either able to walk or primarily use wheelchairs. Satellite cells are muscle stem cells (MuSCs) required for postnatal development and source of myonuclei.

Cerebral Palsy: Hip Surveillance.

Patients with cerebral palsy are known to be at risk for hip displacement and dislocation. Progressive hip displacement is known to cause a variety of problems including pain, impaired sitting balance, difficulty with perineal care, and decreased quality of life. To avoid these problems, hip reconstruction may be recommended and has been shown to lead to significant improvements in pain and health-related quality of life.

The Association of Health Literacy with Health-Related Quality of Life in Youth and Young Adults with Spina Bifida: A Cross-Sectional Study.

Objective: The objective of the study was to determine if health literacy is associated with health-related quality of life (HRQOL) in adolescents and young adults (AYAs) with spina bifida.

Study Design: Between June 2019 and March 2020, the Patient-Reported Outcome Measurement Information System Pediatric Global Health-7 (PGH-7), a measure of HRQOL, and the Brief Health Literacy Screening Tool (BRIEF) were administered to patients ≥12 years old with a diagnosis of spina bifida seen in our multidisciplinary spina bifida center. Questionnaires were completed at scheduled clinic visits.

Multidisciplinary spina bifida clinic: the Chicago experience.

Open spina bifida (open SB) is the most complex congenital abnormality of the central nervous system compatible with long-term survival. Multidisciplinary care is required to address the effect of this disease on the neurological, musculoskeletal, genitourinary, and gastrointestinal systems, as well as the complex psychosocial impact on the developing child. Individuals with SB benefit from the involvement of neurosurgeons, orthopedic surgeons, urologists, physical medicine and rehabilitation specialists, pediatricians, psychologists, physical/occupational/speech therapists, social workers, nurse coordinators, and other personnel.

Surgical management of myelocystocele: a single-center experience with long-term functional outcomes.

Objective: Myelocystocele (MCC) is an uncommon form of skin-covered spinal dysraphism. The authors aimed to present long-term functional outcomes of patients treated for MCC with and without associated abnormalities of cloacal development (ACD).

Methods: All patients with MCC and at least one tethered cord release (TCR) treated at a single institution between 1982 and 2019 were retrospectively reviewed.

Assessment of Health Literacy and Self-reported Readiness for Transition to Adult Care Among Adolescents and Young Adults With Spina Bifida.

Importance: Health literacy has been shown to play an important role in transitions of care in adult populations, with low health literacy associated with adverse health outcomes. The role of health literacy in the transition from pediatric to adult care has been less well studied. Among adolescents and young adults with spina bifida, high rates of unsuccessful transition have been shown, but how patient health literacy affects transition readiness remains unknown.

Differential DNA methylation and transcriptional signatures characterize impairment of muscle stem cells in pediatric human muscle contractures after brain injury.

Limb contractures are a debilitating and progressive consequence of a wide range of upper motor neuron injuries that affect skeletal muscle function. One type of perinatal brain injury causes cerebral palsy (CP), which affects a child's ability to move and is often painful. While several rehabilitation therapies are used to treat contractures, their long-term effectiveness is marginal since such therapies do not change muscle biological properties.

Myelomeningocele: a new functional classification.

Purpose: In myelomeningocele, several classifications have been used. The present manuscript proposes a new functional classification to better assess the prognosis and management of these patients.

Methods: The manual muscle test is what defines the actual group in which the patient should be included.

Multidisciplinary Management of Tethered Spinal Cord Syndrome in Children: Operationalizing an Outpatient Patient-Centered Workflow.

Introduction: Multidisciplinary care for patients with tethered spinal cord syndrome (TCS) is valuable in ensuring comprehensive evaluation, timely follow-up, optimal functional outcome, and patient-centered care. The family-centered focus aims to minimize patient and parental burdens associated with care coordination. We present our first-year institutional experience in operationalizing a multidisciplinary, patient-centered, pediatric tethered cord clinic (TCC) to manage routine, long-term surgical follow-up for children with non-myelomeningocele-related tethered spinal cords.

Hip Status and Long-term Functional Outcomes in Spina Bifida.

Background: Nearly 50% of individuals with myelomeningocele will develop a dislocated hip by skeletal maturity. The purpose of this study was to determine the influence of hip status on functional outcomes in a cohort of adult patients with myelomeningocele.

Methods: Patients with a diagnosis of myelomeningocele >18 years were prospectively enrolled over a 12-month period.

San Diego pelvic osteotomy in patients with closed triradiate cartilage.

Purpose: A San Diego pelvic osteotomy is frequently used as part of the surgical treatment of neuromuscular patients with hip displacement. This short-term follow-up study assesses the effectiveness of this osteotomy in patients with closed triradiate cartilage compared with open triradiates.

Methods: Retrospective review of 43 patients (44 hips) with neuromuscular hip disease who underwent a San Diego pelvic osteotomy to correct hip displacement.

Midterm Results of the Ponseti Method for Treatment of Clubfoot in Patients With Spina Bifida.

Background: Clubfoot occurs in 30% to 50% of patients with spina bifida. The Ponseti casting method has changed treatment of idiopathic clubfoot to a primarily nonoperative regimen. The Ponseti method is now widely applied to clubfoot in spina bifida, however, few studies report treatment outcomes.

Tibial derotational osteotomies in two neuromuscular populations: comparing cerebral palsy with myelomeningocele.

Purpose: To review the outcomes of tibial derotational osteotomies (TDOs) as a function of complication and revision surgery rates comparing a cohort of children with myelodysplasia to a cohort with cerebral palsy (CP).

Methods: A chart review was completed on TDOs performed in a tertiary referral centre on patients with myelodysplasia or CP between 1985 and 2013 in patients aged > 5 years with > 2 years follow-up. Charts were reviewed for demographics, direction/degree of derotation, complications and need for re-derotation.

Purification and Partial Characterization of Trypsin-Specific Proteinase Inhibitors from Pigeonpea Wild Relative Cajanus platycarpus L. (Fabaceae) Active against Gut Proteases of Lepidopteran Pest Helicoverpa armigera.

Proteinase inhibitors (PIs) are natural defense proteins of plants found to be active against gut proteases of various insects. A pigeonpea wild relative Cajanus platycarpus was identified as a source of resistance against Helicoverpa armigera, a most devastating pest of several crops including pigeonpea. In the light of earlier studies, trypsin-specific PIs (CpPI 63) were purified from mature dry seeds of C.

Outcomes of Tibial Derotational Osteotomies Performed in Patients With Myelodysplasia.

Background: Rotational deformities of the tibia are common in patients with myelodysplasia. The current recommended treatment is tibial derotational osteotomy to improve gait biomechanics. Previously reported complication rates are widely variable.

Structural and functional characterization of proteinase inhibitors from seeds of Cajanus cajan (cv. ICP 7118).

Proteinase inhibitors (C11PI) from mature dry seeds of Cajanus cajan (cv. ICP 7118) were purified by chromatography which resulted in 87-fold purification and 7.9% yield.

Long-term retrospective study of patients with idiopathic clubfoot treated with posterior medial-lateral release.

Background: It has been demonstrated that an important component of clubfoot deformity is related to pathologic external rotation of the talus with respect to the remainder of the foot. The purpose of the present study was to review the long-term results for a cohort of patients with idiopathic clubfoot who were managed by a single surgeon with a uniform surgical protocol consisting of extensive posterior medial-lateral release in addition to the use of a temporary Kirschner wire to derotate the talus prior to fixation.

Methods: Eighty patients (120 clubfeet) with idiopathic clubfoot without previous surgery were managed with posterior medial-lateral release.

Orthopaedic management of spina bifida-part II: foot and ankle deformities.

Both congenital and acquired orthopaedic deformities are common in patients with spina bifida. Examples of congenital deformities, which are present at birth, include clubfoot and vertical talus. Acquired developmental deformities are related to the level of neurologic involvement and include calcaneus and cavovarus.

Standard radiographs and computed tomographic scan underestimating pediatric acetabular fracture after traumatic hip dislocation: report of 2 cases.

Posterior wall acetabular fractures are rare in the pediatric patient but require proper management to prevent significant complications. Plain radiographs and computed tomography scans are standard diagnostic imaging used with clinical examination of hip stability to determine if the injury requires open reduction and internal fixation. Two cases are presented of adolescent traumatic hip dislocations and posterior wall fractures in which radiography underestimated the extent of the posterior wall fracture.

Radical posterior capsulectomy improves sagittal knee motion in crouch gait.

Background: Knee flexion contracture leading to crouch gait is commonly seen in children with myelomeningocele. Progressive increase in knee flexion contracture increases energy cost, which interferes with efficient, functional ambulation. To prevent this, surgical release has been recommended when a knee flexion contracture exceeds 15° to 20°.