Search Our Scientific Publications & Authors

J Pediatr Endocrinol Metab 2021 Apr 12. Epub 2021 Apr 12.

Pediatric Neurology Unit, Department of Pediatrics,APC, PGIMER, Chandigarh, India.

Objectives: Boys with Duchenne Muscular Dystrophy (DMD) are at increased risk for compromised bone health, manifesting as low-impact trauma long bone fractures and vertebral compression fractures.

Methods: In a prospective observational study, we studied bone health parameters in North Indian boys with DMD. We consecutively enrolled ambulatory boys with DMD on glucocorticoid therapy. Read More

Hua Xi Kou Qiang Yi Xue Za Zhi 2021 Apr;39(2):230-232

Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper. Read More

Dev Med Child Neurol 2021 Apr 8. Epub 2021 Apr 8.

Department of Health Science, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.

Aim: To synthesize clinical and scientific evidence regarding the instruments available to assess upper-limb function in paediatric patients with neuromuscular disease (NMD).

Method: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Read More

Nat Commun 2021 04 8;12(1):2099. Epub 2021 Apr 8.

Stem Cell Laboratory, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Unit of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Milan, Italy.

In Duchenne muscular dystrophy (DMD), sarcolemma fragility and myofiber necrosis produce cellular debris that attract inflammatory cells. Macrophages and T-lymphocytes infiltrate muscles in response to damage-associated molecular pattern signalling and the release of TNF-α, TGF-β and interleukins prevent skeletal muscle improvement from the inflammation. This immunological scenario was extended by the discovery of a specific response to muscle antigens and a role for regulatory T cells (Tregs) in muscle regeneration. Read More

Public Health 2021 Apr 5;193:126-138. Epub 2021 Apr 5.

Department of Ophthalmology, Erasmus Medical Center, P.O. Box 2040, NL-3000CA, Rotterdam, the Netherlands. Electronic address:

Objectives: A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or modifying childhood screening programs to maximize participation and uptake.

Study Design: This is a systematic narrative literature review.

Methods: Electronic databases were searched (MEDLINE, EMBASE, PsycINFO via Ovid, CINAHL, and Cochrane Library) to identify primary research studies that assessed screening acceptability. Read More