Vitamin K deficiency bleeding: a case study.

Vitamin K deficiency bleeding (VKDB), formerly known as hemorrhagic disease of the newborn (HDN), is a bleeding disorder in neonates that is caused by inadequate serum levels of vitamin K. Vitamin K is a nutrient essential for adequate function of the coagulation cascade. Certain internal and external factors place newborn infants at higher risk for VKDB. Therefore, vitamin K prophylaxis has become the standard of care for newborns. Although the American Academy of Pediatrics recommends the administration of vitamin K to newborns, some parents are choosing to withhold vitamin K administration at birth. This case study describes an infant who developed VKDB in the absence of vitamin K prophylaxis. Although parents ultimately have the right to choose whether or not to administer vitamin K, as healthcare professionals, it is important to provide education regarding the potential complications of withholding vitamin K and the signs of VKDB if vitamin K prophylaxis at birth is withheld.

Subcutaneous fat necrosis and whole-body cooling therapy for neonatal encephalopathy.

Whole-body cooling, or therapeutic hypothermia, is increasingly becoming the standard of treatment for moderate to severe neonatal encephalopathy because it reduces neurodevelopmental disabilities and mortality in term neonates. Subcutaneous fat necrosis (SCFN) of the newborn has been identified as a potential side effect of birth asphyxia. In recent literature, there has been an increase in SCFN in infants who received whole-body cooling in treatment of neonatal encephalopathy. Subcutaneous fat necrosis is a rare and self-limiting disorder of the adipose tissue that usually occurs in full-term or postterm infants. The disorder can appear days to weeks after birth and spontaneously resolves within weeks to months without any intervention but can have potential complications. With the increasing use of whole-body cooling in the neonate population, clinicians should be aware of SCFN as a possible side effect. This article describes a case of SCFN occurring after whole-body cooling on a term infant with perinatal asphyxia.

Congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body. A defect in the synthesis of oligosaccharides can result in multisystemic effects. Congenital disorders of glycosylation are classified into type I and type II disorders, each with subgroup classifications. All CDGs are autosomal recessive disorders, with CDG type I being the most common. This article will explore both types of CDG, their clinical presentation, diagnosis, and management.

Congenital disorder of glycosylation: a case presentation.

Congenital disorders of glycosylation (CDG) are a group of rare genetically inherited disorders that involve the malfunction of attaching sugar molecules to lipids, proteins, or other organic molecules through an enzymatic process. The resulting defect in glycoprotein and glycolipid synthesis often has a heterogeneous range of multisystemic effects ranging from mild dysmorphism to profound organ failure and subsequent death. There are 2 types of CDG, type I and type II, with multiple subtypes within each. This column is a case presentation about an infant who presented with CDG type Ik.

Hemophagocytic lymphohistiocytosis in the premature neonate.

Hemophagocytic lymphohistiocytosis (HLH), a rare disease, results in pathological findings secondary to an abnormal proliferation of activated lymphocytes and histiocytes (tissue macrophages) and is lethal unless identified and adequately treated. Clinical features of HLH include fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenemia, elevated blood levels of ferritin, lymphadenopathy, skin rash, jaundice, and edema. Often, the symptoms of HLH are misinterpreted as infection, resulting in inadequate treatment and death. Several case studies of premature neonates with HLH have recently been published. Therapeutic guidelines for HLH exist and, when identified, HLH in the premature infant can be successfully treated resulting in resolution of symptoms.

Hemophagocytic lymphohistiocytosis in the premature neonate: a case study.

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from an abnormal proliferation of histiocytes within the body's tissues leading to an ineffective immune response. Typically, HLH is characterized by fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hemophagocytosis. However, the premature infant with HLH may present differently making diagnosis of the disease cumbersome. If an infant is born with ascites, cytopenias, hypofibrinogenemia, and hepatosplenomegaly, a diagnosis of HLH cannot be ruled out. In addition, premature infants oftentimes will not present with fever because they are kept normothermic from ambient sources. Reports of premature infants with HLH in the literature are rare. This is a case presentation of a 27-week-gestation female with a family history of HLH.

Factors influencing treatment delays for acute myocardial infarction.

Previous studies have supported the fact that delaying medical attention when suffering an acute myocardial infarction may lead to complications such as cardiac dysrhythmias, congestive heart failure, pericarditis, and rupture of heart structures. Gender and culture are often associated with delayed treatment times, with socioeconomic status as a silent interwoven barrier in seeking treatment. Delaying treatment times for clients suffering an acute myocardial infarction potentially poses a disadvantage for receiving occlusion-eliminating therapies. The purpose of this article is to begin discussion of the effects of delayed treatment outcomes regarding gender, culture, and occlusion-eliminating therapies.

Prune belly syndrome. A focused physical assessment.

Prune belly syndrome, a rare congenital anomaly, exists almost exclusively in males and consists of genital and urinary abnormalities with partial or complete absence of abdominal wall musculature. The syndrome, caused by urethral obstruction early in development, is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. The impaired elimination of urine from the bladder leads to oligohydramnios, pulmonary hypoplasia, and Potter's facies. The syndrome has a broad spectrum of affected anatomy with different levels of severity. The exact etiology of prune belly syndrome is unknown, although several embryologic theories attempt to explain the anomaly. With advances in prenatal screening techniques, the diagnosis and possible treatment of prune belly syndrome can occur before birth, although controversy exists on the proper management of prune belly syndrome. This article explores the theories behind the pathophysiology and embryology of prune belly syndrome and its multisystemic effects on the newborn infant. Specific attention is paid to presentation, clinical features, head-to-toe physical assessment, family support, and nursing care of infants with prune belly syndrome.