Bone Diseases Metabolic

Background: Endocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders. Objective: To study the inheritance of endocrine or metabolism disorders. Eligibility: Children ages 3month-18 with known or suspected endocrine or metabolism disorders. Family members ages 3months-100. They may participate in the DNA part of the study. Design: Participants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released. Participants will have a clinic visit. This may include a physical exam and medical history. Parents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include: Blood, urine, and saliva tests Growth hormone test Pituitary and adrenal function tests Picture of chromosomes Imaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey. Genetic tests Sleep study Medical photographs If surgery is done, a tissue sample will be taken. Participants may have follow-up visits for diagnosis and treatment. Participating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.

Background: The adrenal gland makes the hormone aldosterone. This helps regulate blood pressure. An adrenal gland tumor that makes too much aldosterone can cause high blood pressure and low potassium. The cause of these tumors is unknown, but sometimes they are inherited. Objective: To study the genes that may cause primary aldosteronism in Black individuals. Eligibility: People ages 18-70 who: Are Black, African American, or of Caribbean descent And have difficult to control blood pressure or primary aldosteronism Relatives of people with primary aldosteronism Design: Participants who are relatives of people with primary aldosteronism will have only 1 visit, with medical history and blood tests. Participants with primary aldosteronism or difficult to control blood pressure (suspected to possibly have primary aldosteronism) will be screened with a 1-2 hour visit. If they qualify, they will return for a hospital stay for 7-10 days. Tests may include: Medical history Physical exam Blood tests: Participants will have a small tube (IV catheter) inserted in a vein in the arm. They may drink a glucose-containing liquid or get a salt solution. If medically indicated, they may have invasive blood tests with a separate consent. Urine tests: Some require a high-salt diet for 3 days. Heart tests Scans: Participants lie in a machine that takes pictures of the body. A dye may be injected through a vein. Small hair sample taken from near the scalp. Kidney ultrasound Bone density scan: Participants lie on a table while a camera passes over the body. If the doctors feel it is medically necessary, they will offer participants treatment depending on their results. These treatments may cure the patient of their disease and may include: 1. Having one adrenal gland removed by the Endocrine surgeon under anesthesia. Patients will have follow-up visits 2-4 weeks after surgery. 2. Taking drugs to block the effects of aldosterone Participants may return about 1 year later to repeat testing.

People with Parkinson's have infrequent clinical consultation (once every 12-18 months) and limited rehabilitation. Assessment play an important role in these consultations to help clinicians understand patients' health status and disease progression necessary to adjust treatment plans. The current way of measuring is the UPDRS which needs a clinician to do this and takes 30 minutes. There is a strong need for more frequent and accurate Parkinson's assessments in the clinic and at home to detect changes early and then give appropriate support and drug and physiotherapy quickly. There is a need to develop good home digital physiotherapy tools to increase the amount of therapy. Here the investigators are testing new digital technologies to do these assessments in the home and clinic and a new digital physiotherapy device in the home. The investigators aim to conduct a clinical study with 50 people with Parkinson's (50 from UK) with the UPDRS, (a rating scale that is commonly used in clinical settings to evaluate the progression of Parkinson's disease) and 30 healthy adults. The investigators will develop and investigate if two new digital devices, one the MachineMD that measures eye movement and one the gaitQ that measures gait can be used instead of the MDS-UPDRS (motor) using digital gait and ophthalmic features in the clinic setting. The investigators will investigate the effect of a physiotherapy gait intervention gaitQ Tempo in the home context for two weeks and of doing the gait measure at home. The investigators will determine the potential of the gaitQ intervention to improve key gait metrics in order to collect clinical evidence and of using the gaitQ as a cuing system over a 2-week period on gait and other movement measures in the home and community

The primary objectives of this study are to: (1) determine the impact of glomerular disease on bone strength and (2) investigate the pathophysiologic underpinnings of impaired bone strength in glomerular disease.

Explore the bone metabolism characteristics of premature ovarian insufficiency.

Metabolic bone disease of prematurity (MBDP) is caused by insufficient content of calcium, phosphorus, and organic protein matrix in preterm infants or bone metabolism disorder, which is one of the complications affecting the quality of life of preterm infants. The early symptoms of MBDP are insidious, and there is no unified and clear diagnostic method. The diagnosis is mostly based on typical clinical manifestations and X-ray findings, but at this time, bone mineral density has decreased significantly, so early detection and diagnosis are difficult. Studies have shown that exosomal micrornas have biological characteristics and targeting specificity, and can be used as new molecular diagnostic markers for diseases. Several studies have reported the use of plasma or serum microRNAs as molecular markers for early prediction of bone diseases. In our previous study, we extracted plasma exosomes from preterm infants for high-throughput sequencing of microRNAs, and identified differentially expressed micrornas related to bone metabolism. In this study, exosomes were used as carriers, and digital PCR was used to verify the specificity and sensitivity of plasma exosomal microRNA as biomarkers of MBDP in a large sample size. The above biomarkers were compared and verified before and after treatment in children with MBDP. Further revealing plasma exosomal microRNA as a biological indicator for evaluating the efficacy of MBDP may improve the diagnostic level of MBDP, improve the outcome and prognosis of very low birth weight preterm infants, thereby improving global health and reducing socioeconomic costs.