Volume 14 - Issue 3
Authors : Eugenio Franceschini, Matteo Tonnini, Ilaria Serio*
Rendu-Osler-Weber or Hereditary Hemorrhagic Telangiectasia is a rare genetic disorder characterized by epistaxis, telangiectasias and arteriovenous
malformation that can affect multiple organs like brain, lungs, liver, gastrointestinal tract, spinal cord.1 It occurs in about 1-2:10000 worldwide. HHT1
is caused by mutations in endoglin (ENG) gene mapping on chromosome 9q, and HHT2 caused by mutations in ALK1, located on chromosome 12q, codifying
for ACVRL1.2 Mutations in MADH4 (encoding for SMAD4 protein) result in a juvenile polyposis with HHT syndrome (JP-HHT).
Authors : Anass Ayad*; Salahiddine Saghir; Mohamed Sellouti; Rachid Abilkassem
Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder characterized by defective synthesis of type I collagen, the major structural
protein of bone. The condition results primarily from mutations in COL1A1 and COL1A2, which encode the α1 and α2 chains of type I collagen [1]. The
estimated incidence of OI ranges from 1 in 15,000 to 20,000 live births.
Authors : Dr. Rihame Alheyasat, Prof. Dr. Hanane Baybay, Prof. Dr. Layla Tahiri Elousrouti, Prof. Dr.Ikrame Bejja, Prof. Dr.Saadia Boughaleb, Prof. Dr.Zaakia Douhi, Prof. Dr.Meryem Soughi, Prof. Dr. Sara Elloudi, Prof. Dr.Fatima Zahra Mernissi
Pediatric lichen planus (LP) is rare, and disseminated forms are particularly uncommon. We report a 5-year-old child with a two-month history of diffuse,
pruritic, violaceous-brown papules and hyperpigmented macules, symmetrically distributed over the body, sparing the palms, soles, nails, and mucosa.
Dermoscopic examination showed Wickham striae, punctate and glomerular vessels, and rosette structures. Histopathology revealed orthokeratotic
hyperkeratosis, basal vacuolar degeneration, apoptotic keratinocytes, and a dense band-like lymphocytic infiltrate, confirming the diagnosis of LP.
Authors : N. Bougteb, S. El Hanafy*, C. Belhaj, S. Msika, H. Bamha, H. Arfaoui, H. Jabri, W. Elkhattabi, H. Afif
Hypertrophic osteoarthropathy (HOA), also known as Pierre Marie-Bamberger
syndrome, is a rare osteoarticular condition most often associated with
underlying pulmonary pathology, particularly malignancy. It can precede the
discovery of cancer and constitute a true diagnostic warning sign.
Authors : Alessandro Bozzato
Extending this neurobiological framework, the article advances the notion that learning—both neural and cognitive—can be understood as an emergent
process of cooperative regulation grounded in shared temporal structures. This perspective is particularly relevant for the interpretation of neurodevelopmental
conditions characterized by dysregulation of timing, synchronization, and embodied feedback, such as ADHD and related disorders of executive
functioning. Movement and environmental interaction are discussed as modulators of neural synchronization and plasticity, highlighting the embodied
nature of learning processes.
Authors : Kholin A.A*; Kholina E.A
Developmental and epileptic encephalopathy 46 type (DEE 46, OMIM#617162) is caused by heterozygous mutation (autosomal dominant) in the GRIN2D (Glutamate Receptor, Ionotropic, N-methyl-D-aspartate, subunit 2D) gene
(OMIM*602717) located on chromosome 19q13. We presented two clinical cases of resistant developmental and epileptic encephalopathy with
resembling SWAS phenomenon on the EEG and caused by novel de novo point and microdeletion mutations in GRIN2D gene.
Authors : Lorry Luo*, Luke Law*, Ming Yu, Naining Zhang, Miexin Yang
Chronic urticaria (CU) poses a significant therapeutic challenge, as conventional antihistamines are ineffective for about 40% of patients. This treatment gap
is linked to key pathological drivers: impaired histamine metabolism due to low diamine oxidase (DAO) activity, immune dysregulation, and vitamin D
deficiency. Addressing this need, our study evaluated NatureU Yan, a functional food designed to simultaneously target these pathways with active DAO,
vitamin D, and Bifidobacterium longum BB536. In a 28-day trial involving 19 CU patients, this multi-targeted intervention led to striking clinical benefits.