Bidirectional Relationship between the BDNF Gene and miRNA: Implications for PD Pathogenesis.

Parkinson's disease (PD) is a neurological degenerative condition that primarily affects older people. Although reduced motor skills, stiffness, dyslexia, and other motor symptoms predominate in PD, the nonmotor symptoms, such as cognitive impairment, also play an important part in the PD-affected brain. Studies have reported that the brain-derived neurotrophic factor () has a pivotal role in monitoring the nonmotor symptoms of PD.

Acquired epileptic aphasia in NMDA encephalitis: a unique electroclinical presentation with pathophysiological considerations.

A boy in his middle childhood who was premorbidly normal presented with new-onset seizures and progressive auditory aphasia, raising suspicion of Landau-Kleffner Syndrome (LKS). Continuous spike and wave during sleep with a left centrotemporal spike pattern on the electroencephalogram (EEG) supported the preliminary diagnosis. But the febrile episodes after admission and the MRI findings suggestive of autoimmune encephalitis changed the diagnostic considerations.

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

The 5 alpha-reductase deficiency is one of the significant causes of the disorders of sex development (DSD) in individuals bearing 46 XY chromosomes. The conversion of testosterone into dihydrotestosterone is impaired on account of this enzyme deficiency. The mutations in the steroid 5 alpha-reductase type 2 gene (SRD5A2) result in the deficiency of this enzyme.

Lipofibromatous Hamartoma of the Median Nerve in a Child.

Lipofibromatous hamartoma (LFH) is characterized by the infiltration of mature adipose tissue and fibrous elements along the course of the median nerve, leading to gradual compression and distortion of the nerve fibers. In our case, the median nerve was involved in an LFH tumor in an 8-year-old male child. After a comprehensive clinical evaluation, radiological findings, and histopathological examination, the patient underwent resection of LFH with dissection and resection of the median nerve and its digital branches, followed by sural nerve cable grafting.

Neurofibromatosis Type 1: Clinical and Imaging Perspectives From a Pediatric Case.

Neurofibromatosis (NF) is a common disorder that affects the nerves and skin. There are two main types: neurofibromatosis Type 1 (NF-1) (also called von Recklinghausen's disease) and neurofibromatosis Type 2 (NF-2) (previously known as bilateral acoustic NF or central NF). NF-1 makes up approximately 85% of cases, with a prevalence of 1 in 5000 in the general population.

Unravelling the Mechanistic Approach of Aflatoxin Contaminated Food on Neurodegenerative Diseases-A Novel Approach.

Aflatoxins (AFs) are a group of toxic secondary metabolites and a dietary toxin produced predominantly by Aspergillus species such as Aspergillus flavus and Aspergillus parasiticus. The four most common and harmful forms of AFs include Aflatoxin B1 (AFB1), Aflatoxin B2 (AFB2), Aflatoxin G1 (AFG1), and Aflatoxin G2 (AFG2), which pose a significant health threat due to their widespread contamination of food and feed products. Particularly, AFB1 has raised a major global health concern.

Updates in the Management of Hereditary Periodic Fever Syndromes in Children.

Periodic fever syndrome is characterized by three or more febrile episodes in six months, each occurring at least seven days apart. Immune dysregulation in systemic autoinflammatory syndromes involves innate immunity (neutrophils, monocytes, and macrophages) and cytokines, mainly IL-1, with tumor necrosis factor (TNF), interferon alpha and beta, IL-2, IL-12, IL-18, and IL-23. Treatment includes colchicine, corticosteroids, immunosuppressants, and biologics.

An Integrated Approach: Improving Tooth Nomenclature to Include Dental Abnormalities for Enhanced Clinical Diagnosis and Communication.

In dentistry, a tooth numbering system helps identify specific tooth positions in the mouth. This system includes quadrant types for primary and permanent teeth, making it easy to locate and document tooth positions. The tooth notation system is crucial for recording an individual's case history and efficient clinical record keeping and standardizing diagnostic makeover.

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex.

POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario.

POLR3-related leukodystrophy is a spectrum of hypomyelinating leukodystrophy caused by biallelic POLR3A, POLR3B, POLR1C, and POLR3K variants. This series of case reports aims to provide a concise overview of the spectrum of rare hypomyelinating leukodystrophy caused by POLR3 variants and adds to the existing knowledge regarding clinical details of a rarer subset caused by POLR1C variant. A retrospective review of four cases in the POLR3-related leukodystrophy spectrum was done.

A critical review of microbiome-derived metabolic functions and translational research in liver diseases.

Significant changes in gut microbial composition are associated with chronic liver disease. Using preclinical models, it has been demonstrated that ethanol/alcohol-induced liver disease is transmissible through fecal microbiota transplantation (FMT). So, the survival rate of people with severe alcoholic hepatitis got better, which suggests that changes in the makeup and function of gut microbiota play a role in metabolic liver disease.

Enamel hypoplasia: a potential diagnostic aid in DiGeorge syndrome.

SummaryDental enamel, renowned as the hardest substance in the human body, serves as a resilient outer layer that safeguards the tooth crown. Acting as a formidable barrier, it shields the dental pulp from physical, thermal and chemical harm. The appearance of enamel, characterised by its opacity and colour, mirrors its unique structure and composition.

Epilepsia partialis continua in a child with disseminated tuberculosis: a case report and review of literature.

Tuberculosis can present myriad manifestations, affecting multiple organ systems. Common central nervous system (CNS) manifestations include vomiting, headache, blurred vision, neck stiffness, altered sensorium, seizures, and focal neurological deficits. Epilepsia partialis continua (EPC) is a rare manifestation of CNS tuberculosis.

Neurological Manifestation of Neonatal Acute Kidney Injury: Focusing on the Clinico-Radiological Profile.

Purpose This study aimed at studying the neurological manifestation of neonatal acute kidney injury, focusing on the clinico-radiological profile. Methodology In this cross-sectional study, newborns hospitalized in the neonatal intensive care unit of a tertiary care hospital were enrolled over a study period of one year. As per the Kidney Disease: Improving Global Outcome (KDIGO) criteria, 74 neonates were enrolled, and magnetic resonance imaging (MRI) was performed on the same neonates.

Unusual Anterior Choroidal Artery Occlusion in Pediatric Type 1 Diabetes: A Case Report Highlighting Atypical Presentation.

Anterior choroidal artery (AChA) occlusion is a rare but significant vascular event that can lead to severe neurological deficits. Type 1 diabetes mellitus is a known risk factor for various vascular complications, although its association with AChA occlusion in pediatric patients is not commonly seen. A 13-year-old girl, a known case of type 1 diabetes for three years, presented with right-sided headache, visual disturbance in the right eye, and nausea.

Giant Aortic Arch Aneurysm Presenting as Ortner's Syndrome in Polycystic Kidney Disease: A Radiological Perspective.

Polycystic kidney disease (PKD) is a genetic disease characterized by the formation of multiple cysts in bilateral kidneys. While renal complications are predominant, cardiovascular manifestations such as aortic aneurysms can also occur. Although there are a few case reports of giant aortic arch aneurysms, to the best of our knowledge, this has been rarely reported in patients with PKD.