Introduction to Bartter Syndrome Bartter syndrome is a rare autosomal recessive disease, which results from defective proteins in the thick ascending limb (TAL) within the loop of Henle in the kidney. The TAL is an important part of the nephron because it contributes to the ion concentration within the urine. It has impermeability to water and reabsorption abilities specific for sodium chloride . Physical indicators for this syndrome can include dehydration, constipation, weakness, and fatigue . Through analysis of the chemical indicators of this disease, one can hope to gain insight into diagnostic techniques and treatment regimens that would be effective for the cure of Bartter syndrome.
Newborn screening is the practice in which the harmful or potentially fatal conditions that can affect the infant's health or survival are detected. This process can prevent death or health problems and protect the infant against certain diseases and medical conditions. Newborn screening started in 1960's when many states in U.S.A. established a newborn test program for phenylketonuria (PKU) by using the Guthrie method, a system for the collection and transportation of blood samples on filter paper. Many Infants showed developments while receiving treatment. This success led to the addition of tests for other metabolic diseases.
Patients and Methods: In this retrospective study, 122 infants under 3 months of age with cholestasis in Nemazi Hospital (affiliated to Shiraz University of Medical Sciences) during the years 2001-2011 were studied. Demographic data, duration of jaundice, liver biopsy and the causes of cholestasis were recorded. Results: There were 76 males (62.3%) and 46females (37.7%) with a mean age of 54.4 ± 23.7 days. The most common clinical finding was Jaundice that was seen in all patients (100%) .The onset of jaundice was the first day to the fifty two days of age, with an average age of 15.6 ± 16.1 days. Other findings included hepatomegaly in 92 patients (76.4%), claycolor stool in 54 (44.3%), and splenomegaly in 29 patients (23.8%).
Neonatal mortality is mainly attributed to causes relating to short gestation and low birth weights. Things such as SIDS, congenital malformations and unintentional injuries are causes that are considered post neonatal. The infant mortality rate for the United States as of 2011 was 23, 910 deaths, this is 6.05 deaths per 1,000. Although the infant mortality rate has decreased since 2005 it is still fairly high, especially for a first world country. The sad truth is although there are ways to prevent infant mortality it is still occurring very frequently.
• The most common cause is chronic alcohol use. • In chronic pancreatitis, loss of insulin can result in diabetes mellitus. Decreased release of digestive enzymes may lead to impaired digestion and malabsorption. • The diagnosis is made based on history, physical examination, laboratory studies, and abdominal imaging. CT scan of the abdomen typically shows pancreatic calcifications.
It affects women more than men with a 9:1 ratio, and typically affects women of childbearing age (Patel, Fenves, & Colbert, 2012). The mean age of symptom onset was 29 years in the Euro Lupus Project that studied 1000 patients with SLE (“Systemic Lupus Erythematosus”, 2012). Children and older adults are also diagnosed with SLE but at a much lower rate, 8%-15% and 3%-18%, respectively (Arnaud, Mathian, Boddaert, & Amoura, 2010). Patients with ethnic backgrounds have a higher incidence rate with African Americans developing SLE 3-4 times more than Caucasians, unlike drug-induced lupus erythematosus (DILE) which has an equal male to female prevalence yet a higher disease severity in Caucasians (Bernknopf, Rowley, & Bailey, 2011). Systemic lupus erythematosus is a progressive disease that has shown to produce organ damage within seven years of the diagnosis (Gill, Quisel, Rocca, & Walters, 2011).
It occurs due to the overproduction of Escherichia coli and/or after kidney transplantation. The transplantation can lead to two different types diseases, chronic (long-lasting) or acute (sudden and limited). The kidney’s function are water/fluid balance, removing waste products from blood, and regulation of blood pressure via enzyme Renin. The infection is treatable via prescribed antibiotics. Lastly, pyelonephritis can be prevented by maintaining a positive healthy body.
Iatrogenic preterm birth is interrupting the normal pregnancy due to various reasons such as protecting the mother from a fetal related illness or if there is a life threatening risk to the foetus. Spontaneous births account for 80% of the preterm births and this is when the baby is delivered earlier despite all medical efforts to stop this (Robinson et al., 2001). It is estimated that approximately 50,000 births in the UK itself are preterm deliveries (NHS information centre; Office for National Statistics 2003-2006). On a global level, USA has one of the highest prevalence of premature births i.e. 12-13% and de... ... middle of paper ... ... 2000-2008 took into account ethnic differences due to the multi-racial nature of Malaysia (Mohd-Ali & Asmah, 2011).
In many cases, just by adopting a healthier lifestyle can reduce your risk for diseases that run in your family. Your genetic information determines the genes you inherit that may cause or elevate your risk of certain medical conditions. My family genogram clearly indicates the risk of developing type 2 diabetes (T2D), heart disease (HD), hypercholesterolemia (HC) and hypertension (HTN). Heart disease is indicated on both maternal and paternal side and even though T2D only shows on my paternal side, the other diseases such as HC and HTN that are on my maternal side are risk factors for developing diabetes. According to Pessoa Marinho et al.
Secondly, another cause is Intrarenal which is the Middle stage of renal Failure, manifested by edema, toxins, drugs and decreased blood supply. Lastly, Postrenal is when the urine flow is compromised due to an enlarged prostate, stones, and/or a bladder tumor. According to the American Family Physician (2000) 60 to 70 percent of cases are prerenal causes. Diagnostic exams that are used to confirm ARF would be Urine output measurements, urine tests, blood tests, imaging test and lastly removing a sample of kidney tissue. (Mayo Clinic , 2012).