Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic variants in TET3 have recently been described in TET3-related Beck-Fahrner syndrome (TET3-BEFAHRS), representing an autosomal dominant disorder with variable expressivity. Typical features include intellectual disability and developmental delay.

The Impact of Artificial Intelligence on Allergy Diagnosis and Treatment.

Purpose Of Review: Artificial intelligence (AI), be it neuronal networks, machine learning or deep learning, has numerous beneficial effects on healthcare systems; however, its potential applications and diagnostic capabilities for immunologic diseases have yet to be explored. Understanding AI systems can help healthcare workers better assimilate artificial intelligence into their practice and unravel its potential in diagnostics, clinical research, and disease management.

Recent Findings: We reviewed recent advancements in AI systems and their integration in healthcare systems, along with their potential benefits in the diagnosis and management of diseases.

Protocol for genomic recombineering in Yersinia ruckeri using CRISPR Cas12a coupled with the λ Red system.

Genomic manipulation of Yersinia ruckeri, a pathogen of salmonid fish species, is essential for understanding bacterial physiology and virulence. Here, we present a protocol for genomic recombineering in Y. ruckeri, a species reluctant to standard genomic engineering, using CRISPR Cas12a coupled with the λ Red system.

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies. Tuberous sclerosis complex (TSC) serves as the prototypical mTORopathy.

Exploring the Efficacy of ZB-06 Vaginal Biofilm as a Novel Treatment for Recurrent Bacterial Vaginosis.

The purpose of this research was to investigate the efficacy of ZB-06 vaginal biofilm as a novel treatment for recurrent bacterial vaginosis (BV). BV is a prevalent vaginal infection that primarily affects women of reproductive age and is linked to adverse health outcomes. Biofilm production allows bacteria to cling to the vaginal epithelium, making antibiotics harder to penetrate and treat the illness efficiently.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2.

Evaluation of carboxylated poly-l-lysine for cryopreservation of Labeo rohita sperm.

Carboxylated poly-l-lysine (CPLL) is an anti-freeze agent having pronounced non-permeating yet membrane stabilizing cryoprotective capabilities. The objective was to evaluate the CPLL supplementation in extender in terms of post-thaw quality (sperm), total anti-oxidant activity (milt) and fertilization potential of cryopreserved Labeo rohita sperm. For this purpose, male brood fish reared at a fish seed hatchery, Rawal Town Islamabad, Pakistan were captured from different rearing ponds and acclimatized in hatchery ponds for 6 h.

Efficacious use of potential biosurfactant producing plant growth promoting rhizobacteria to combat petrol toxicity in Zea mays L. plants.

Soil pollution caused by petroleum hydrocarbons is a serious threat for human life, as it affects the groundwater, cause economical losses after decreasing the agricultural production, and create other ecological issues. Here, we are reporting the isolation and screening of rhizosphere bacteria possessing biosurfactant producing potential and capable of enhancing plant growth under petrol stress as well as possessing. Efficient biosurfactant producers having plant growth promoting traits were characterized morphologically, physiologically, and phylogenetically.

Diagnosis and clinical presentation of two individuals with a rare pathogenic variant.

-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.Two unrelated early adolescent males were referred to genetics for assessment of developmental delay.

Biostimulants induce positive changes in the radish morpho-physiology and yield.

An ever-increasing population has issued an open challenge to the agricultural sector to provide enough food in a sustainable manner. The upsurge in chemical fertilizers to enhance food production had resulted in environmental problems. The objective of the current study is to assess the utilization of biostimulants for sustainable agricultural production as an alternative to chemical fertilization.

Pregnancy and calving rates improved using modified swim-up method for buffalo semen sexing.

Present study aimed to evaluate field fertility rate and calf sex ratio of Nili Ravi buffalo semen sexed through modified swim-up method (Animal Reproduction Science, 182, 2017, 69). For this purpose, five mature Nili-Ravi buffalo bulls kept at semen production unit, Qadirabad, Pakistan, were selected. Two consecutive ejaculates per week were collected with artificial vaginą for 3 weeks.

Synergistic impact of α-linolenic acid and α-tocopherol on in vitro maturation and culture of buffalo oocytes.

The objective of the current study was to investigate the synergistic impact of α-Tocopherol and α-Linolenic acid (100 µM) on IVM and IVC of Nili Ravi buffalo oocytes. Oocytes were obtained from the ovaries of slaughtered buffaloes within two hours after slaughter and brought to laboratory. Buffalo cumulus oocyte complexes were placed randomly in the five experimental groups included; GROUP 1: Maturation media (MM) + 100 µM ALA (control), GROUP 2: MM + 100 µM ALA + 50μM α-Tocopherol, GROUP 3: MM + 100 µM ALA + 100μM α-Tocopherol, GROUP 4: MM + 100 µM ALA + 200 μM α-Tocopherol and GROUP 5: MM + 100 µM ALA + 300 μM α-Tocopherol under an atmosphere of 5% CO2 in air at 38.

Gender-based incidence, recovery period, and mortality rate of COVID-19 among the population of district Attock, Pakistan.

COVID-19 is reported as an extremely contagious disease with common symptoms of fever, dry cough, sore throat, and tiredness. The published literature on incidence and gender-wise prevalence of COVID-19 is scarce in Pakistan. Therefore, the present study was designed to compare the distribution, incubation period and mortality rate of COVID-19 among the male and female population of district Attock.

Pathogenic Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report.

Background And Objectives: To date, all reports of pathogenic variants affecting the GTPase domain of the gene have a clinically severe neurodevelopmental phenotype, including severe delays or intractable epilepsy. We describe a case with moderate developmental delays and self-resolved epilepsy.

Methods: The patient was followed by our neurology and genetics teams.

A novel RdRp-based colorimetric RT-LAMP assay for rapid and sensitive detection of SARS-CoV-2 in clinical and sewage samples from Pakistan.

Novel corona virus SARS-CoV-2, causing coronavirus disease 2019 (COVID-19), has become a global health challenge particularly for developing countries like Pakistan where overcrowded cities, inadequate sanitation, little health awareness and poor socioeconomic conditions exist. The SARS-CoV-2 has been known to spread primarily through direct contact and respiratory droplets. However, detection of SARS-CoV-2 in stool and sewage have raised the possibility of fecal-oral mode of transmission.

Enhanced visible light photocatalytic activity of TiO co-doped with Fe, Co, and S for degradation of Cango red.

The photocatalytic activity of TiO was enhanced under visible light when it was co-doped with Fe, Co, and S through the sol-gel method. The resultant nano photocatalysts were characterized by XRD, EDX coupled with SEM, FT-IR, UV-Vis, and UV-DRS. The concentration ratio of precursor salts of Fe and S was kept at 1% each and of Co varied between 0.

Management of major bleeds in patients with immune thrombocytopenia.

Background: A standard approach to the recognition and management of major bleeding in immune thrombocytopenia (ITP) is lacking.

Methods: Retrospective cohort study of ITP patients presenting to the emergency department (ED) with severe thrombocytopenia (platelet count <20 × 10 /L) and bleeding in four academic hospitals from 2008 to 2016. We defined a major ITP bleed as a bleed at a critical site or causing hemodynamic instability.

CHANGES IN IRISIN RELEASE IN RESPONSE TO PERIPHERAL KISSPEPTIN-10 ADMINISTRATION IN HEALTHY AND OBESE ADULT MEN.

Context: Kisspeptin role in metabolism has been implicated recently. However, the nature of the signals that may connect body fat/muscle tissues with the central nervous system governing energy homeostasis remains to be elucidated.

Objective: The present study was designed to investigate the effects of peripheral kisspeptin-10 administration on irisin release in human males.

A Novel Recombinant Eel Pout (Macrozoarces americans) Type III Antifreeze Protein Improves Cryosurvival of Buffalo Sperm.

Background: The quality of cryopreserved buffalo semen is low due to high susceptibility of sperm membranes to cold shock.

Objective: The present study was designed to investigate the effect of recombinant type-III antifreeze protein from the eel pout Macrozoarces americanus (rAFPIII) on freezability of buffalo semen.

Materials And Methods: Semen was collected from three buffalo bulls for three weeks (replicates).

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Background: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes in DNA methylation (DNAm) in affected individuals termed DNAm signatures.

Methods: Genome-wide DNAm was assessed in whole-blood samples from the individuals with pathogenic SMARCA2 variants and NCBRS diagnosis (n = 8) compared to neurotypical controls (n = 23) using the Illumina MethylationEPIC array.

Biostatistical Options for Quantitative Diet Analysis.

Sufficient statistics knowledge is crucial for the correct design of a research plan. The elucidations of results are interpretive only if appropriate statistical methods are applied. Statistical strategies are a particular approach to demonstrate complicated information in broad and explicable conclusions.

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant.

Background: Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural alteration resulting from germline chromoanagenesis-type mechanisms are limited.

Case Presentation: We report a two-year eleven-month old male presenting with epilepsy, ataxia and dysmorphic features of unknown etiology.

Biofilm production and antibiotic susceptibility of Staphylococcus epidermidis strains from Hidradenitis Suppurativa lesions.

Background: An aberrant interaction between commensal skin bacteria and the host skin immune system is considered important in the pathogenesis of hidradenitis suppurativa (HS).

Objective: In this study, we investigated the antibiotic susceptibility and biofilm-forming capabilities of S. epidermidis strains isolated from HS patients.