In this article we will discuss about Yunis-Varon syndrome. So let’s get started.
Discovered by Colombian genetist Emilio Yunis is an extremely rare autosomal recessive genetic disorder which affects musculoskeletal, cardiorespiratory system and ectodermal tissue. Characterized by growth retardation before and after birth, partial or complete absence of shoulder blades, abnormalities of digits, may also include cardiac defects, difficulty respiration and feeding problems. Inheritance is of autosomal recessive manner. Less than 15 cases reported since 1980. Many of the infants with this disease did not survive beyond one year of age.
Pictorial representation of a child with Yunis-Varon syndrome
In this article we will discuss about Isovaleric acidemia. So let’s get started.
It is a autosomal recessive metabolic disorder that disrupts normal leucine metabolism leading to classical type of organic acidemia. Characterized by distinctive odor of sweaty feet during acute illness. In severe cases initial symptoms include seizures, vomiting, poor feeding and lethargy. Health problems can range from mild to life threatening. In some cases symptoms appear during childhood and may come and go over time. Children with these condition often have delayed development and in these children episodes of serious health problems are triggered on prolonged fasting, high protein consumption and infections. It has autosomal recessive inheritance pattern and mutation in IVD gene leads to isovaleric acidemia. Isovaleric acidemia affects 1 in 250,000 births in US. UK NSC recommends screening of every newborn for four further genetic disorder as a part of NHS Newborn Blood Spot Screening programme including isovaleric acidemia.
In this article we will discuss about What is Tenesmus? So let’s get started.
It is a feeling of incomplete defecation. It is the sense of inability or difficulty in emptying the bowel. It indicates the presence of residual fecal matter irrespective of actual presence. Common diseases associated with Tenesmus are
In this article we will discuss about What is Epstein-barr virus? So let’s get started.
Also known as Human gammaherpesvirus 4 belongs to the herpes virus family. Transmission is through oral transfer of saliva and genital secretions. Symptoms include fever, fatigue, lymphadenopathy of neck, splenomegaly, hepatomegaly, throat inflammation and rash. Associated disease include infectious mononucleosis, Hodgkin’s lymphoma, Burkitt’s lymphoma, Gianoti- Crosti syndrome, lymphomatoid granulomatosis, stomach carcinoma, multiple sclerosis etc.