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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Factors Affecting Dissolution: Polymorphism, Amorphism and Pseudopolymorphism01:21

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Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
Some polymorphic crystals possess lower aqueous solubility than their amorphous counterparts, leading to incomplete absorption. For instance, the oral suspension of Chloramphenicol, which...
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Nephrotic Syndrome I : Introduction01:24

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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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Irritable Bowel Syndrome I: Introduction01:17

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
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Pharmaceutical Alternatives: Polymorphic Form-Related and Particle Size-Related Therapeutic Nonequivalence01:27

Pharmaceutical Alternatives: Polymorphic Form-Related and Particle Size-Related Therapeutic Nonequivalence

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Changes in polymorphic forms can significantly influence the bioavailability of poorly soluble drugs. Although the FDA defines pharmaceutical equivalence based on having the same active ingredient, dosage form, and route of administration, it does not automatically disqualify products with different polymorphic forms. This means two products with different polymorphs can still be deemed pharmaceutically equivalent. However, polymorphic differences can affect properties like wettability,...
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Updated: Feb 6, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Polimorfismo del síndrome de Culler-Jones

E N Raykina1, A A Kolodkina1, A V Bolmasova1

  • 1Endocrinology Research Centre.

Problemy endokrinologii
|February 5, 2026
PubMed
Resumen

El síndrome de Culler-Jones, causado por variantes del gen GLI2, muestra una diversidad clínica significativa y penetrancia incompleta. Este estudio destaca la falta de una correlación genotipo-fenotipo clara en los niños afectados.

Palabras clave:
genéticapediatríaendocrinologíasíndrome de Culler-JonesGLI2hipopituitarismopolidactiliadisformidades facialesmalformaciones de órganos

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Área de la Ciencia:

  • Genética
  • Pediatría
  • Endocrinología

Sus antecedentes:

  • El síndrome de Culler-Jones es un trastorno autosómico dominante raro relacionado con el gen GLI2.
  • Su presentación clínica es muy variable, incluyendo hipopituitarismo, malformaciones de órganos, dismorfias faciales y polidactilia.
  • La penetrancia incompleta y la expresividad variable son características, incluso dentro de las familias.

Objetivo del estudio:

  • Investigar las características clínicas y genéticas moleculares del síndrome de Culler-Jones.
  • Analizar el polimorfismo en pacientes diagnosticados con síndrome de Culler-Jones.

Principales métodos:

  • Estudio unicéntrico no intervencionista en niños con síndrome de Culler-Jones genéticamente confirmado.
  • Se realizaron exámenes clínicos completos, pruebas de laboratorio y diagnósticos instrumentales.
  • Se utilizó la secuenciación de próxima generación (NGS) para el análisis genético molecular.

Principales resultados:

  • Dieciocho niños (7 mujeres, 11 hombres) con variantes del gen GLI2 fueron estudiados.
  • Todos los participantes presentaron deficiencia de hormona del crecimiento
  • 13 tenían hipotiroidismo central y 10 tenían insuficiencia suprarrenal secundaria.
  • Se observaron manifestaciones extrahipofisarias, incluidas anomalías maxilofaciales y malformaciones de órganos, en la mitad de los pacientes.

Conclusiones:

  • El síndrome de Culler-Jones se presenta con un polimorfismo clínico significativo.
  • No se identificó una correlación genotipo-fenotipo clara para esta afección.