Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.

Human sclerostin-inspired short peptides reverse osteoporosis and suppress joint degeneration in osteoarthritis via opposing Wnt pathways.

Sclerostin, a key regulator of Wnt/β-catenin signaling, exhibits dual therapeutic potential in bone disorders: its inhibition promotes bone formation in osteoporosis, while its mimicry suppresses aberrant bone growth in osteoarthritis (OA). Using structural insights from NMR studies, we identified two sclerostin-derived peptides: SC-1 (an 18-mer) from loop 2, and SC-3 (a 14-mer) from loop 3. Molecular modeling showed that SC-1 binds to the first ectodomain of LRP6, potentially displacing sclerostin through competitive inhibition to activate Wnt signaling.

β-catenin-α-catenin and actomyosin signaling differentially regulate growth cone contours and axon undulation and branching of retinal ganglion cells .

Introduction: Cadherin adhesive and actomyosin signaling are key cytomechanical cues required for neuronal circuit formation, but whether they function together to sculpt developing neurons is not known. Previously, we demonstrated that a β-catenin mutant (β-catNTERM) that disrupts binding of endogenous, full length β-catenin to α-catenin in the Cadherin adhesion complex, and a pharmacological inhibitor for actin regulator, non-muscle Myosin II (Blebbistatin), resulted in growth cones with fewer and more filopodia or filopodia-like protrusions than control growth cones of retinal ganglion cells (RGCs) in brains from embryos.

Methods: Here, we assessed whether perturbation of β-catenin adhesive and Myosin II signaling specifically impacted additional, diverse yet interrelated, parameters of growth cone morphology and axon pathfinding, including two novel measures of growth cone contours.

Investigating Emotional Interference as a Potential Endophenotypic Marker in Attention-deficit Hyperactivity Disorder: A QEEG Study.

Background: Attention deficit hyperactivity disorder (ADHD) children and their siblings often exhibit deficits in emotional information processing both in terms of emotion recognition and interference. An individual's preparedness to resolve cognitive and emotional conflict before encountering emotionally interfering stimuli or while making a response can reveal the neural basis of emotional processing, utilizing pre-stimulus electroencephalography (EEG) microstates and pre-response source localization. This study aimed to investigate emotional interference via emotional Stroop task (EST) in children with ADHD and their siblings and neurotypical controls.

Functional Impact of Increasing Minor Intervals in North Indian Classical Music on Cortical Sources and Emotional Responses.

Background: North Indian classical music ragas evoke distinct emotional responses, shaped by their tonal structures. Prior studies on Western music have shown that minor and major intervals influence affective valence and neural activity, but similar research in the Indian context is limited.

Purpose: This study aimed to investigate how increasing minor-to-major intervals (m/M tonal ratios) in North Indian classical music affect cortical sources and emotional responses.

Breathing new life: Cutting-edge anesthetic strategies for whole lung lavage in pulmonary alveolar proteinosis.

Pulmonary Alveolar Proteinosis (PAP) is a rare condition where surfactant accumulates in the lungs' alveoli, causing respiratory failure. Whole lung lavage (WLL) is the primary treatment, requiring careful perioperative management due to potential complications. We present the case of a 38-year-old man with severe PAP who underwent WLL with cardiopulmonary bypass standby.

Clinico-radiological outcomes of desmoid type-fibromatosis after discontinuing the sorafenib treatment in responders - early results from the SORASTOP study.

Introduction: The duration of treatment for desmoid-type fibromatosis (DTF) is undefined. This study aimed to evaluate the efficacy of discontinuing sorafenib in responding patients with extremity DTF. We hereby report the initial findings comprising outcomes of 20 evaluable patients enrolled in this study.

Investigating Neurocognitive Functions in People Living with Human Immunodeficiency Virus: A Cross-sectional Study from an Indian Tertiary Health Care Institution.

Introduction: Human immunodeficiency virus (HIV)-associated neurocognitive deficits (HAND) distress a substantial proportion of people living with HIV (PLHIV). The present research intends to examine the neurocognitive functions in PLHIV, compared to healthy volunteers.

Materials And Methods: About 48 HIV patients were recruited from one tertiary health care center, while 24 matched healthy volunteers were enrolled as controls from the community.

A pilot study on the neurocognitive effect of sorafenib on patients with desmoid tumours: the SORA-COG study.

Introduction: Sorafenib is a multikinase tyrosine kinase inhibitor whose prolonged use may lead to cognitive impairment due to inhibition of angiogenesis. However, data on its impact on neurocognitive function in desmoid tumours (DTs) is lacking.

Methods: We conducted a cross-sectional study enrolling 50 participants including 30 with DT on sorafenib (Group 1), 10 treatment-naive patients with DT (Group 2) and 10 healthy controls (Group 3).

Biosimilar Regulations: Current Framework and Future Prospects.

Introduction/objective: Biosimilars, a class of biologic medications that are highly similar to reference biologics, have emerged as cost-effective alternatives to their expensive originator counterparts. Due to their complex nature and manufacturing processes, biosimilars differ significantly from small molecule generics and must undergo a rigorous assessment to ensure safety, efficacy, and accessibility. This review explores the regulatory landscape surrounding biosimilars across key markets such as the United States, Europe, and India, with a focus on approval processes and post-marketing pharmacovigilance for patient safety.

Physiotherapeutic approaches in upper cross syndrome: A systematic review of systematic reviews.

Background: A postural disturbance known as upper cross syndrome can lead to several musculoskeletal issues affecting the upper body. Further difficulties can be avoided with the use of manual therapy and early identification. Nevertheless, the effectiveness of different physiotherapy intervention options to treat this condition has not been examined in a systematic review of systematic reviews.

Acute and long-term effects of chemotherapy on cognitive function among Indian breast cancer patients.

Introduction: Breast cancer (BC) is the leading cause of morbidity and mortality worldwide. Owing to early diagnosis and better therapeutic care, survivorship in these patients have improved tremendously. Chemotherapy, cornerstone in BC management have been associated with debilitating side effects including the effect on cognitive function, which significantly impairs the quality of life in these patients.

Reliability of surgeon-reported MRI findings to a national spine register.

Purpose: Spine registries contribute to valuable knowledge and research; however, the data quality has been questioned. MRI findings are crucial for diagnostics and grading of degenerative spinal disorders. We aimed to explore the reliability of surgeon-reported MRI findings in a national spine registry (NORspine).

EEG Microstates as a Functional Marker of Performance During Emotional Interference.

Background: In order to understand social interactions, integration of emotional valence and semantic information plays a pertinent role. Emotional interference is reflected as a decline in executive function in the presence of emotional stimuli (faces and valenced words). We hypothesise that apart from what we perceive, the intrinsic brain activity may also influence the behavioural outcome.

Excess surface area of the nuclear lamina enables unhindered cell migration through constrictions.

Cell migration through narrow spaces is essential in wound healing and metastatic spread of cancer. Cells must deform the large nucleus to fit through constricting channels. To understand the role of the nuclear lamina in limiting cell migration through constrictions, we imaged it in cells migrating through periodic constricting channels in a microdevice.

Unearthing the hidden plastic in garden compost.

Compost and potting mixes have emerged as significant sources of plastic and biodegradable polymer residues in soil. While bio-based (such as polylactic acid (PLA), polyhydroxyalkanoates (PHAs) and polybutylene succinate (PBS)) and fossil-based (such as polycaprolactone (PCL), and polybutylene adipate terephthalate (PBAT)) biodegradable polymers are designed to rapidly degrade and are marketed as biodegradable, they require specific conditions to do so. Consequently, both conventional and biodegradable plastic polymers raise concerns that they may be harming the environment.

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Rett syndrome (RTT) is a severe neurodevelopmental disorder, with MECP2 mutations accounting for 90-95% of classic and 50-70% of atypical cases. However, many clinically diagnosed RTT patients remain without molecular diagnoses. While point mutations and large rearrangements in MECP2 are well studied, the role of small-intermediate structural variants (SVs) remains mostly elusive.

Autophagy and Cancer: Insights into Molecular Mechanisms and Therapeutic Approaches for Chronic Myeloid Leukemia.

Autophagy is a critical cellular process that maintains homeostasis by recycling damaged or aberrant components. This process is orchestrated by a network of proteins that form autophagosomes, which engulf and degrade intracellular material. In cancer, autophagy plays a dual role: it suppresses tumor initiation in the early stages but supports tumor growth and survival in advanced stages.

Effect of short-term chanting on electroencephalographic microstates.

Introduction: chanting in meditation reduces stress and it is reported to have a relaxation effect during both verbal "OM" chanting (VOM) and listening to "OM" chanting (LOM). There is paucity of literature on EEG microstates information after VOM and LOM using qEEG compared to the resting condition.

Methods: therefore, to examine the effect of these actions on the brain using qEEG, it is required to compare the EEG microstates among the baseline, VOM, and LOM.

Serum Ammonia Screening and Donor Mollicute Detection for Hyperammonemia Syndrome Post-Lung Transplant: A Prospective Observational Study.

Background: Hyperammonemia syndrome (HS) is a rare but potentially fatal complication of Lung Transplantation (LT). Optimal screening methods are unknown: Here we investigated serum ammonia screening (SAS) for HS and compared it with PCR for Mollicutes (ureaplasma-producing bacteria).

Methods: All LT recipients from 07/2019-02/2020 and 10/2021-11/2022 with available donor bronchial wash samples from the LT biobank were included.