What is in the Differential Diagnosis for Green, Blue or Violet Skin Conditions?
Discussion Acrocyanosis is commonly seen in the newborn period as the baby transitions to extra-uterine life. It appears as blue-purple coloration of the distal extremities which usually improves over several hours. Blue melanocytosis is also a common normal variant of skin color. It usually is seen on the posterior surface of the body around the spine and buttocks, but can also be on the upper parts of the extremities. It is a blue-black coloration that shows a normal skin undertone when palpated. This is the second in a short case series of differential diagnoses of colored skin conditions. An introduction to dermatologi...
Source: PediatricEducation.org - May 2, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Polyuria, Polydipsia and Possible Diabetes Insipidus?
Discussion The body is smart. It has mechanisms for maintaining balances within the body in a closely controlled manner but allows for a variety of states. This is very true for fluid balance in the body which is highly controlled between almost all of the major body organ systems. When fluid is low, the sensor sends signals for us to drink, and conserves fluid until we can. When the fluid is high, the kidneys excrete the excess and sends signals not to drink. Usually it works very well. While there are many pathological states that can cause polyuria and/or polydipsia, the most common reason is excessive fluid intake beca...
Source: PediatricEducation.org - March 7, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Study: New insights on the role of the MLL4 gene in Kabuki syndrome
(University at Buffalo) Research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 11, 2021 Category: International Medicine & Public Health Source Type: news

Low-carb diet alleviates inherited form of intellectual disability in mice
Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, scientists report that a very low-carbohydrate diet can “open up” DNA and improve mental function. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - December 19, 2016 Category: Science Source Type: news

What Types of Hand Stereotypies are Associated with Rett Syndrome?
Discussion Lady MacBeth and patients with Rett Syndrome (RS) are obviously not alike other than in making similar hand motions. In Shakespeare’s MacBeth (5.1.25-30), Lady MacBeth was driven into madness because of her murderous guilt and tries to wash the blood off her hands as she sleepwalks. Doctor. What is it she does now? Look, how she rubs/ her hands. Gentlewoman. It is an accustomed action with her, to seem thus/ washing her hands. I have known her continue in this/ a quarter of an hour. In 1954, Dr. Andreas Rett observed 2 girls who were also making repetitive handwashing motions and later published a cas...
Source: PediatricEducation.org - January 11, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Drug Treats Inherited Form of Intellectual Disability in Mice - 10/3/14
Studying mice with a genetic change similar to what is found in Kabuki syndrome, an inherited disease of humans, Johns Hopkins researchers report they have used an anticancer drug to "open up" DNA and improve mental function. (Source: Johns Hopkins Medicine News)
Source: Johns Hopkins Medicine News - October 3, 2014 Category: Research Source Type: news