Structures, Organization, and Delivery of Kidney Care to Children Living in Low-Resource Settings.

Introduction: There is a disparity in the availability of health care for children in resource-constrained countries. The International Pediatric Nephrology Association (IPNA) commissioned an initiative exploring the challenges in the care of children with kidney disease in low- or middle-income countries (LMICs) with a focus on human, diagnostic, and therapeutic resources.

Methods: A survey was sent by e-mail to all members of IPNA and its affiliated regional or national societies residing in LMICs.

Systematic Review and Meta-Analysis on Optimal Timing of Surgery for Acute Symptomatic Metastatic Spinal Cord Compression.

Symptomatic acute metastatic spinal epidural cord compression (MSCC) is an emergency that requires multimodal attention. However, there is no clear consensus on the appropriate timing for surgery. Therefore, to address this issue, we conducted a systematic review and meta-analysis of the literature to evaluate the outcomes of different surgery timings.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.

Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy that impacts the entire nervous system. Here, we propose a novel therapeutic strategy tailored to correcting the root genetic defect of CMT2A.

Role of Vagus Nerve Stimulation in Refractory and Super Refractory Status Epilepticus: A Pediatric Case Series.

Background: Status epilepticus is a life-threatening condition that is defined as refractory (RSE) when the seizure activity continues despite treatment with benzodiazepine and a second appropriate treatment. Super refractory status epilepticus (SRSE) is an RSE that persists or recurs for ≥24 h. Few papers have reported the outcomes of pediatric patients affected by RSE and SRSE and treated with neuromodulation therapies.

Nutritional and clinical factors associated with acute kidney injury development in critically ill children.

Background: Acute kidney injury (AKI) is common in the pediatric intensive care unit (ICU) and is associated with poorer clinical outcomes. There is scarce data to support an association between nutritional status and nutrient delivery in critically ill pediatric patients. Therefore, the present study aimed to identify the nutritional and clinical factors associated with the development of AKI during pediatric ICU stay.

Aesthetic transaxillary subpectoral placement of vagus nerve stimulator in children and young adults: A technical note.

Introduction: Vagus nerve stimulation (VNS) is a neuromodulation therapy for drug-resistant epilepsy (DRE), refractory status epilepticus, and treatment-resistant depression. The lead is tunneled into the subcutaneous space and connected to the generator, which is usually implanted in a subcutaneous pocket below the clavicle. Surgical complications in the chest region include skin breakdown or infection.

Acute hydrocephalus following post-traumatic peri-mesencephalic subarachnoid hemorrhage: an uncommon and potentially fatal event in children.

Purpose: In pediatric, head trauma acute hydrocephalus is an uncommon but possible complication. Association with a subarachnoid hemorrhage is poorly described.

Methods: We described a case of an 8-year-old girl with acute hydrocephalus secondary to peri-mesencephalic subarachnoid hemorrhage after mild head trauma resolved with external ventricular drainage.

COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy).

Objective: To estimate the incidence and describe clinical characteristics and outcome of GBS in COVID-19 patients (COVID19-GBS) in one of the most hit regions during the first pandemic wave, Lombardia.

Methods: Adult patients admitted to 20 Neurological Units between 1/3-30/4/2020 with COVID19-GBS were included as part of a multi-center study organized by the Italian society of Hospital Neuroscience (SNO).

Results: Thirty-eight COVID19-GBS patients had a mean age of 60.

The challenges of the pandemic and the vaccination against covid-19 in pediatric patients with kidney disease.

The covid-19 vaccine confers direct protection and reduces transmission rates of the virus and new variants. Vaccines from Pfizer/BioNTech and CoronaVac have been cleared for children in Brazil. They are safe, effective, and immunogenic.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the Gene.

Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic molecular defects in SGCB and features pediatric onset with limb-girdle involvement, often complicated by respiratory and heart dysfunction. Here we describe a patient who presented at the age of 12 years reporting high creatine kinase levels and onset of cramps after strenuous exercise.

MicroRNAs as serum biomarkers in Becker muscular dystrophy.

Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical variability, BMD is characterized by progressive muscle degeneration and proximal muscle weakness. Interestingly, a dysregulated expression of muscle-specific microRNAs (miRNAs), called myomirs, has been found in patients affected with muscular dystrophies, although few studies have been conducted in BMD.

Vagus Nerve Stimulation in Treatment-Resistant Depression: A Case Series of Long-Term Follow-up.

Objectives: Vagus nerve stimulation (VNS) has been shown to be effective for treatment-resistant depression (TRD). However, long-term (>5 years) studies on the efficacy and tolerability of this treatment have been lacking. Here, we report a long-term clinical follow-up of 5 patients with severe and long-standing TRD, who received a VNS implant.

Pediatric peritoneal dialysis in Brazil: a discussion about sustainability. A document by the Brazilian Society of Nephrology, the Brazilian Society of Pediatrics, the Brazilian Association of Organ Transplantation, and the Brazilian Association of Dialysis and Transplant Centers.

IntroduÇÃo: A diálise peritoneal (DP) é importante para a pediatria. Este estudo mostrou dados de centros brasileiros que utilizam DP pediátrica.

MÉtodo: Estudo transversal, observacional, descritivo com questionário eletrônico.

Burden of rare coding variants in an Italian cohort of familial multiple sclerosis.

Background: Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative demyelinating disease of the central nervous system. It is a complex and heterogeneous disease caused by a combination of genetic and environmental factors, and it can cluster in families.

Objective: to evaluate at gene-level the aggregate contribution of predicted damaging low-frequency and rare variants to MS risk in multiplex families.

Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model.

Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. Recently approved SMA therapies have transformed a deadly disease into a survivable one, but these compounds show a wide spectrum of clinical response and effective rescue only in the early stages of the disease. Therefore, safe, symptomatic-suitable, non-invasive treatments with high clinical impact across different phenotypes are urgently needed.

Sodium Levels Predict Disability at Discharge in Guillain-Barré Syndrome: A Retrospective Cohort Study.

Guillain-Barré syndrome (GBS) is an inflammatory polyradiculopathy with potentially severe complications. Clinical tools for risk stratification have been developed, but no definitive prognostic biomarker has been reported. Hyponatremia is frequent in GBS patients, but the impact of serum sodium levels on clinical outcomes is still ill-defined.

Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.

Cerebral cavernous malformations (CCM) consist of clusters of irregular dilated capillaries and represent the second most common type of vascular malformation affecting the central nervous system. CCM might be asymptomatic or cause cerebral hemorrhage, seizures, recurrent headaches and focal neurologic deficits. Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.

Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy.

Introduction: /AIMS: Patients with neuromuscular disorders (NMDs), including many elderly, immunosuppressed, and disabled individuals, may have been particularly affected during the coronavirus disease 2019 (COVID-19) pandemic in Lombardy, a COVID-19 high-incidence area between February and May 2020. We aimed to evaluate the effects of the COVID-19 pandemic on the quality of life (QoL) and perceived disease burden of this group of patients.

Methods: We conducted a cross-sectional phone-based survey study between June 1 and June 14, 2020, on a sample of 240 NMD patients followed at our clinic in Milan, Italy.