Effects of lumbar lordosis increment on gait deteriorations in ambulant boys with Duchenne Muscular Dystrophy: A cross-sectional study.

BACKGROUND: Increment of lumbar lordosis, a frequent spinal finding in Duchenne Muscular Dystrophy (DMD), is a compensatory mechanism secondary to muscle weakness. However, excessive lumbar lordosis may change the position of the center of mass, and lead to balance and walking difficulties. OBJECTIVE: To study the relationship between factors that may influence ambulatory function in boys with DMD and to investigate the effects of lumbar lordosis increment on gait and balance perturbations. METHODS: Twenty-one ambulant patients with DMD and 10 healthy boys were included. Lumbar lordosis and thoracic kyphosis angles, dynamic and static balance tests, ambulatory function, muscle strength, and disease severity were assessed. Usage of steroids and orthotic devices were recorded. Scoliosis was assessed on radiographs. Receiver operator characteristic curves were formed and area under curve (AUC) measurements were performed to assess the ability of the tests to discriminate ambulatory status and optimal cut-off values were established according to the Youden index. RESULTS: The amount of lumbar lordosis correlated strongly and negatively with quality of ambulation (r = -0.710) and moderately with performance on balance tests. The strength of both upper limbs and lower limbs muscles were not associated with any of the variables. According to the AUC analysis, patients with a lumbar lordosis higher than 36° had worse scores on gait and dynamic balance tests. CONCLUSION: Ambulation and dynamic balance are negatively affected by the increment of lumbar lordosis with a cut-off point of 36°in boys with DMD.

The evolution of cerebral palsy publications and global productivity: a bibliometric analysis between 1980 and 2019.

Although cerebral palsy (CP), which affects the quality of life of many children and their families, is the most common cause of motor dysfunction in children, no comprehensive bibliometric study has holistically evaluated the publications on CP. This study aimed to analyze the scientific outputs published on CP in pediatrics research between 1980 and 2019 using bibliometric and statistical methods, and reveal new study trends in this field. The literature search was performed in the Web of Science database using the keyword cerebral palsy in the title section of the articles published only in the pediatrics research field. Four-thousand seventy-five publications were obtained in the field of pediatrics research on CP, 3027 of which were articles. We shared abstract information of 3027 articles published between 1980 and 2019 with this comprehensive bibliometric study, which will be a useful guide for physicians and scientists on the global outcomes of CP, and we discussed new trends in this topic. We think that comprehensive bibliometric analyzes on subjects that we frequently encounter in clinics and which are widely researched will contribute to the field.

Bibliometric analysis of publications on pediatric epilepsy between 1980 and 2018.

BACKGROUND/OBJECTIVE: Childhood epilepsy is one of the disease groups with the highest disease burden in society. This study aimed to guide researchers for new studies by determining the most compelling studies and current issues through a bibliometric analysis of scientific outputs about childhood epilepsy between 1980 and 2018. METHODS: The literature review was conducted using the Web of Science (WoS) database. Epilepsy and status epilepticus were used as search keywords in WoS, and the search was performed only in the title section of the publications. Only publications in the research field of pediatrics were included in the study and were analyzed bibliometrically. Linear regression analysis was used to estimate the number of publications in the coming years. RESULTS: It was seen that the number of articles on pediatric epilepsy has been increasing with a linear trend. A total of 3424 publications were found. Of these publications, 2197 (64.2%) articles were analyzed bibliometrically. The top two most productive countries were the USA(654) and Italy (199). The first two most active institutions were The Hospital for Sick Children (40, 1.8%) and Tel Aviv University (38, 1.7%). The top three journals that published the most were Journal of Child Neurology (422, 19.2%), Pediatric Neurology (335, 15.2%), and Developmental Medicine and Child Neurology (201, 9.1%). CONCLUSION: In this bibliometric study on childhood epilepsies, a data summary of 2197 articles published between 1980 and 2018 is presented. We hope that this article will be a useful literature review and guide researchers working on pediatric epilepsy.

Kidney involvement and associated risk factors in children with Duchenne muscular dystrophy.

BACKGROUND: Kidney dysfunction is a common complication in adults with Duchenne muscular dystrophy (DMD); however, little attention has been paid to kidney function in pediatric patients. METHODS: Medical records of patients with DMD who were followed up for ≥ 12 months were retrospectively reviewed. Inclusion criteria were (i) aged 5-18 years, (ii) proven mutations in the dystrophin gene, and (iii) absence of structural anomalies of the kidney and urinary tract. Serum creatine kinase (CK) was used as an indirect marker of muscle destruction. RESULTS: Forty-four patients (mean age, 10.9 ± 3.3 years) were included. Blood pressure was evaluated by 24-h ambulatory blood pressure monitoring in 28 patients. Hypertension was found in 9 (32.1%), eight of whom were using steroids. Mild proteinuria, hypercalciuria, hypocalciuria, and hyperphosphaturia in 24-h urine collection (n = 36) were detected in 3 (8.3%), 5 (13.9%), 7 (19.7%), and 6 (16.7%) patients, respectively. Twenty-one (58.3%) demonstrated hyperuricosuria, associated with hyperuricemia in 4. Logarithmic cystatin C (CysC) had a positive correlation to creatinine (Cr) (p = 0.001, r = 0.54), CK (p = 0.048, r = 0.30), and parathormone (PTH) (p = 0.001, r = 0.49). Moreover, the patients were divided into two groups according to median CysC value: group 1 (n = 20, CysC ≤ 0.76 mg/l) and group 2 (n = 24, CysC > 0.76 mg/l). Mean CK, PTH, and Cr levels were significantly elevated in group 2 compared with group 1 (p = 0.010, 0.033, and 0.023, respectively). CONCLUSIONS: Long-term exposure to the excessive burden of intracellular components released from damaged muscles may be associated with an increased risk over time of chronic kidney impairment in pediatric DMD patients. Graphical abstract.

Hashimoto's encephalopathy in children: different manifestations of five cases.

Hashimoto's encephalopathy (HE) is a rare, poorly understood, progressive and relapsing, steroid-responsive multiform disease. HE presents with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders. The disorder is usually related to thyroid disease and the most frequent feature is the presence of anti-thyroperoxidase antibodies. Patients are generally euthyroid or mildly hypothyroid. The clinical features of two patients at presentation included refractory seizures and confusion, another patient had behavioral problems and altered cognitive status, one patient presented with right-sided weakness and numbness especially in his leg and tongue, dysphagia, speech disorder, aggressiveness, nightmares and nocturnal enuresis and last patient had focal seizures with altered mental status. All patients manifested increased anti-thyroid antibodies. Four patients improved with steroid treatment, and one of the patients responded to plasmapheresis instead of corticosteroid treatment. Physicians' awareness of this complication is of great importance because HE is a highly treatable condition among children and adolescents.

A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene.

Dravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold. A ten-year-old boy first presented at age 10 months with febrile-clonic seizures, which began when he was aged 8 months. Electroencephalography was found as normal. Phenobarbital was initiated because of long-lasting seizures. However, his seizures continued and the therapy was replaced with valproic acid. On follow-up, different antiepileptics were used, which were stopped due to inefficiency or adverse effects. SCN1A gene analysis was performed and a heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting from an early stop-codon is thought to be the cause of the disease. Finally, he was prescribed valproic acid and stiripentol. For patients with fever-triggered, treatment-resistant seizures, and delayed psychomotor development, Dravet syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.