A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in causing spondylodysplastic Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous.

Tethered cord syndrome in KBG syndrome.

Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues. TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face.

A short-term follow-up study on breastfeeding practices, growth parameters and immunization practices among babies born to COVID-19 positive mothers in a tertiary care hospital.

We aimed to study the impact of the COVID-19 pandemic on exclusive breastfeeding (EBF) rate and routine follow-up practices including immunization. A total of 62 neonates born to COVID-19 positive mothers and an equal number of neonates born to COVID-19 negative mothers were prospectively evaluated for EBF rate and routine neonatal follow-up practices including delay (>7 days) in routine immunization at 3 months follow-up. We further tried to compare the results across two epochs (epoch 1, March-June 2020 and epoch 2, July-November 2020).

Twin to Twin Transfusion Syndrome: A Case Report.

Unlabelled: Twin-twin transfusion syndrome occurs in multiple gestations and involves a chronic flow of blood from one twin to another twin and is a rare entity. We present a case of 32-years-old primigravida with a twin pregnancy who presented with increasing abdominal girth inappropriate with her gestational age at 21 weeks of her pregnancy. Ultrasound findings were suggestive of twin-twin transfusion syndrome.

Status and correlates of non-communicable diseases among children and adolescents in slum and non-slum areas of India's four metropolitan cities.

The emergence of non-communicable diseases (NCDs) in childhood poses a serious risk to a healthy adult life. The present study aimed to estimate the prevalence of NCDs among children and adolescents in slums and non-slums areas of four metropolitan cities of India, and in rural areas of the respective states The study further, investigated the effect of the place residence as slum vs. non-slum and other risk factors of the NCDs.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed. In a subset of those undiagnosed cases, a single heterozygous variant in an autosomal recessive (AR) condition with consistent phenotype may be identified, raising the question if a second variant is missing. Here, we report two cases of recessive conditions in which only one heterozygous variant was initially reported by clinical exome sequencing, and on research reanalysis a second heterozygous variant in trans was identified.

Histomorphometric Analysis of Residual Alveolar Ridge Preserved using Collagen Cell Occlusive Membrane Alone and Along with Demineralized Bone Matrix Following Tooth Extraction: A Randomized Control Trial.

Context: The changes in the volume and dimensions of the alveolar bone after tooth extraction often lead to challenges in prosthetic rehabilitation of the same necessitating ridge preservation procedures (RPP).

Aim: The aim of this randomized clinical trial was to evaluate and compare the dimensional and histomorphometric changes of the sites preserved using the collagen membrane with and without demineralized bone matrix (DMBM).

Settings And Design: Interventional, parallel-design, double blinded, randomized controlled trail.

Network-Structured BST/MBO Composites Made from Core-Shell-Structured Granulates.

A finite element method (FEM)-based simulation approach to predict the tunability in composite materials was developed and tested with analytical data. These tests showed good prediction capabilities of the simulation for the test data. The simulation model was then used to predict the tunability of a network-structured composite, where the dielectric phase formed clusters in a paraelectric network.

Cartilaginous choristoma of tongue - A case report and review.

Choristoma (aberrant rest or heterotopic tissue) is defined as a histologically normal tissue proliferation, which is not normally found in the anatomic site of proliferation. Choristoma with a proliferation of chondroid tissue is known as cartilaginous choristoma. Clinically, they present as a painless firm nodule and may produce local dysfunction.

Assessment of determining factors for severity of NeoCOVIDiabetes in India: A pan India multicentric retrospective study.

Background And Aims: There is a bidirectional relationship between COVID-19 and diabetes. The primary objective of this study was to estimate the prevalence of patients newly detected to have diabetes (NDD) who recovered from COVID-19 in India whilst comparing NDD with patients without diabetes (ND) and those who have known to have diabetes (KD) in terms of glycemic status pre- and post-COVID with disease severity.

Materials & Methodology: There were 2212 participants enrolled from 15 sites, with 1630 active participants after the respective execution of selection criteria.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulated gene repression. Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all of whom have extremely rare de novo mono-allelic or inherited bi-allelic variants in EIF4A2. Neurodegeneration was predominantly reported in individuals with bi-allelic variants.

Broad misappropriation of developmental splicing profile by cancer in multiple organs.

Oncogenesis mimics key aspects of embryonic development. However, the underlying mechanisms are incompletely understood. Here, we demonstrate that the splicing events specifically active during human organogenesis, are broadly reactivated in the organ-specific tumor.

Assessing the SpO in a random population - Looking for the best among fingers.

Context: Pulse oximetry is one of the most revolutionary methods used to monitor the patients in the clinical setting, particularly intensive care and anesthesia. We usually use the index or middle finger to measure SpO values, but little is known about the inter-digital differences that exist between the fingers.

Aim: We aim to compare the peripheral capillary oxygen saturation among fingers of both hands.

Sleep disorders are associated with testosterone deficiency and erectile dysfunction-a U.S. claims database analysis.

The relationship between male genitourinary conditions and sleep disorders has previously only been reported in single-institution studies with small cohorts. Our objective was to assess the association of erectile dysfunction (ED) and testosterone deficiency with various sleep disorders using a large claims database. The TriNetX Diamond database was queried in June 2022.

Surgical Field Quality in Trans-Nasal Endoscopic Surgeries Using Lignocaine Infusion and Dexmedetomidine Infusion. A Prospective Randomized Control Study.

Trans-nasal endoscopic surgery (TNES) is a helpful diagnostic and therapeutic modality in otorhinolaryngology surgeries and requires controlled hypotension for better visualization of the surgical field. Recent literature shows evidence of intravenous Lignocaine infusion to produce the controlled hypotension. The study aims to assess and compare the effects of Lignocaine (LIG) and Dexmedetomidine (DEX) infusion with respect to surgical field quality.

Adjuvants influence the maturation of VRC01-like antibodies during immunization.

Once naive B cells expressing germline VRC01-class B cell receptors become activated by germline-targeting immunogens, they enter germinal centers and undergo affinity maturation. Booster immunizations with heterologous Envs are required for the full maturation of VRC01-class antibodies. Here, we examined whether and how three adjuvants, Poly(I:C), GLA-LSQ, or Rehydragel, that activate different pathways of the innate immune system, influence the rate and type of somatic mutations accumulated by VRC01-class BCRs that become activated by the germline-targeting 426c.

Management of Erythrocytosis in Men Receiving Testosterone Therapy: Clinical Consultation Guide.

The most common side effect of testosterone therapy (TT) is erythrocytosis. Patient-specific factors therefore should be considered when choosing an appropriate TT dosage and modality. Providers should decrease or discontinue therapy if the patient's hematocrit exceeds 54% until the hematocrit normalizes.

Multiscale hierarchical and heterogeneous mechanical response of additively manufactured novel Al alloy investigated by high-resolution nanoindentation mapping.

Smart alloying and microstructural engineering mitigate challenges associated with laser-powder bed fusion additive manufacturing (L-PBFAM). A novel Al-Ni-Ti-Zr alloy utilized grain refinement by heterogeneous nucleation and eutectic solidification to achieve superior performance-printability synergy. Conventional mechanical testing cannot delineate complex micromechanics of such alloys.

A robot-assisted acoustofluidic end effector.

Liquid manipulation is the foundation of most laboratory processes. For macroscale liquid handling, both do-it-yourself and commercial robotic systems are available; however, for microscale, reagents are expensive and sample preparation is difficult. Over the last decade, lab-on-a-chip (LOC) systems have come to serve for microscale liquid manipulation; however, lacking automation and multi-functionality.

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.

Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas acute-COVID-19 severity and outcomes were previously correlated with Notch4 expression on Tregs, here, we show that Tregs in MIS-C were destabilized through a Notch1-dependent mechanism. Genetic analysis revealed that patients with MIS-C had enrichment of rare deleterious variants affecting inflammation and autoimmunity pathways, including dominant-negative mutations in the Notch1 regulators NUMB and NUMBL leading to Notch1 upregulation.

Prevalence of metabolic syndrome among adolescents in India: a population-based study.

Background: In India, the prevalence of overweight among adolescents is on the rise, setting the stage for an increase in metabolic syndrome (MS). This paper presents the national prevalence of MS in adolescents in India.

Methods: A nationally representative data of adolescents (10-19 years) from the Comprehensive National Nutrition Survey was used.

Glimpse into the Lifestyle of Doctors.

Background: Lifestyle disorders are on rise world over. Also, the role of doctors as leaders in propagating healthy lifestyles needs to get a reality check. Aims and Objectives: This study aimed to investigate the prevalence of lifestyle disorders, eating habits, nutrition patterns, and lifestyle of doctors by assessing health-related behaviours considering gender and other relevant demographic parameters.