What is Chediak-Higashi Syndrome?

Chédiak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disorder. A congenital immunodeficiency, CHS is characterized by frequent bacterial infections, easy bruising, oculocutaneous albinism, and recurrent pyogenic infections. The disease is named after the French physician Moises Chediak and the Japanese physician Ototaka Higashi, however, Antonio Beguez-Cesar, a Cuban physician, was the first to report the anomalous expanded […]

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What is Variegate Porphyria?

Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic acid (ALA), and porphobilinogen (PBG) is observed in patients with VP. Photosensitivity and acute neurovisceral episodes are some common symptoms. Adult-onset cutaneous blistering lesions of sun-exposed skin, notably the hands and face, are the most […]

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Cardiovascular inflammation, heart failure focus of $6 million grant

Researchers at Washington University School of Medicine in St. Louis have received a $6 million grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health (NIH) to harness new understandings of the immune system to develop innovative therapies for heart failure and the prevention of organ rejection following heart transplantation. The research will build on […]

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The Genetic Factors in Stuttering Disorders

What is stuttering? The medical sector defines stuttering as a speech disorder, in which a person often repeats some words or syllables, pronounces individual sounds drawly, or is unable to pronounce sounds or syllables fully. Many doctors and specialists define this speech disorder as "Logoneurosis” or “Logophobia”. According to the National Institute of Speech & Hearing (NISH) stuttering occurs in […]

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What Diseases Can You Get From Mosquitoes?

IntroductionBackgroundProtective measuresDiseases by Mosquito TypeMalariaDengueYellow FeverZikaChikungunyaWest Nile VirusJapanese Encephalitis (JE)Lymphatic FilariasisReferencesFurther Reading Mosquito-borne diseases are infectious diseases that are spread by the bite of infected mosquitoes carrying the pathogens. They include Zika virus, West Nile virus, Chikungunya virus, dengue, and malaria. Mosquitoes are among the vectors that transmit more than one in seven infectious diseases, causing around 700,000 deaths a […]

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What is Bannayan-Riley-Ruvalcaba Syndrome?

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a congenital genetic condition defined by a group of characteristic features. These include macrocephaly, intestinal polyps, pigmented penile macules, multiple hemangiomas, and lipomas. First described in 1971, BRRS has an autosomal dominant pattern of inheritance. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome appear at birth or in early childhood. Despite the lack of formal diagnostic criteria, […]

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What is Subglottic Stenosis?

Subglottic stenosis (SGS) is a condition in which the airway below the subglottis and above the trachea narrows. It can be either congenital or acquired. Subglottic stenosis is a condition that can affect newborns, toddlers, and adults. A developmental failure during pregnancy is thought to be the cause of congenital SGS. It is usually caused by an iatrogenic injury caused […]

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The Role of Alternative Polyadenylation in Disease

Alternative polyadenylation is a vital gene function regulatory mechanism, occurring in more than 60% of human genes. The process is required for the synthesis of diverse mRNAs and proteins from a single gene. A dysregulated alternative polyadenylation is frequently observed in a wide range of human diseases, including cancer. Image Credit: MattLphotography/Shutterstock.com What is Alternative Polyadenylation? Polyadenylation is a critical […]

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How has COVID-19 affected Organ Transplantation?

The retrovirus coronavirus disease 2019 (COVID-19) has had a profound impact on all facets of the medical industry. Media and medical experts alike have held a keen focus on, and have requested the aid of otolaryngologists, virologists, and general respiratory equipment. However, many auxiliary branches of medicine are being affected by the COVID-19 virus. One such branch is organ transplantation, […]

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