PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One, Exams of Nursing

Download PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One and more Exams Nursing in PDF only on Docsity! PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 1 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Loading... Discussion This week's graded topics relate to the following Course Outcomes (COs). Analyze pathophysiologic mechanisms associated with selected disease states. (PO 1) Differentiate the epidemiology, etiology, developmental PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 1 2 PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A has been charged with child abuse and whom faces loss of her child and 15 years in prison. The record indicated that PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 2 the child was 4 years old and presented to the ER room with a broken arm and a broken leg. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 3 There also appeared to be multiple previous fractures. Now, you examine the child and find blue sclera, a sunken chest wall, severe scoliosis, and you observe a triangular face and prominent forehead. You confirm that there have been multiple previous fractures by evaluating the previous X-rays. This is a genetic disorder. • What is the most likely genetic disease that this presents and why? • What is the molecular basis of this disease? • Before, calling the police what should the initial clinician have done? Responses PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A risk of long bone fractures. The genetic defect associated with OI affects type I collagen, which is the main organic component of bone. This results in insufficient collagen production and amino acid substitution defects within the collagen molecules. Bone material quality is also affected in OI. When type I collagen is disrupted, the abnormalities that affect this protein causes decreased bone material quality. Often irregularities in collagen, mineral geometry, and mineral composition are seen. Because bone mass and bone quality or strength are reduced in children with OI the long bones and spine often exhibit deformities such as increased curvature, which leads to an increase in maximum stress within the bone shaft. This perpetuates the cycle of fractures (Shaker et al., 2015). OI can be diagnosed solely on clinical features. They are very distinct, but because the condition is rare many people don’t recognize the cluster of symptoms and usually assume child abuse. Research will show you that this child is exhibiting the classic manifestations of Type III OI. There are clinical geneticists that can perform biochemical or DNA tests that can help confirm an OI diagnosis however it is a PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A lengthy process and detects about 90 percent of type I collagen mutations so there is a chance the test can be negative. If the test is negative it can mean the type I collagen mutation is present but was not detected, the patient has a form of the disorder that is not associated with type I collagen mutations, or the patient has a recessive form of OI. A negative result does not rule out OI. While the clinical manifestations vary greatly from person to person, as a healthcare provider caring for children, it is important to be aware of diseases that mimic child abuse and have the knowledge to be able to differentiate (NIH, 2015). References PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 4 National Institute of Health. (2015). Osteogenesis Imperfecta Overview. Retrieved from http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/ overview_oi.pdf PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Osteogenesis Imperfecta. Health And Quality Of Life Outcomes, 1341. doi:10.1186/s12955-015-0226-4 Lorna Durfee 6/5/2016 7:31:49 AM Discussion Part One You are contacted by an attorney representing a client who has been charged with child abuse and whom faces loss of her child and 15 years in prison. The record indicated that the child was 4 years old and presented to the ER room with a broken arm and a broken leg. There also appeared to be multiple previous fractures. Now, you examine the child and find blue sclera, a sunken chest wall, severe scoliosis, and you observe a triangular face and prominent forehead. You confirm that there have been multiple previous fractures by evaluating the previous X-rays. This is a genetic disorder. • What is the most likely genetic disease that this presents and why? PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A • What is the molecular basis of this disease? • Before, calling the police what should the initial clinician have done? Dr. Brown and Class: PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 6 This child was 4 years old and presented to the ER room with a broken arm and a broken leg. There also appeared to be multiple previous fractures. Now, you examine the child and find blue sclera, a sunken chest wall, severe scoliosis, and you observe a triangular face and prominent forehead. What is the Most likely genetic disease and why? The most likely genetic disease, in this case, is Osteogenesis Imperfecta or (brittle bone disease). It is a disease caused by genetic mutation in the genes that code type I collagen. Collagen is the main component of bone and blood vessels (McCance, Huether &, Brashers, 2014, p. 1597). McCance, Huether & Brashers (2014) state that this disorder was was first found in 1840 as a syndrome in the newborn that comprised osteoporosis with fractures and the development of skeletal deformities (McCance et al., 2014, p. 1597). McCance et al., outline The Sillence Classification of PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A team and collaborate on the course of action. I would need to speak to social services and other team members that are experienced with this type of situation and proceed with the course of action that is required and follow protocols. I would check with my board of nursing and understand my scope of practice. Caneira and Myrick (2015) explain that commonly children present to the ER or to primary care offices with injuries that are consistent with abuse but the diagnosis of abuse was not clearly identified. When there are suspicious injuries, and there is no identification of action taken there can be dire consequences for the child and family (Caneira & Myrick, 2015, p. 640). In 2011, there were 3.4 million referrals for alleged child maltreatment to Child Protective Services. The cases showed that most victimization was from to birth to 1 year, and these were split equally between male and females. The factors that have been found to contribute PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 7 are young age of parents, domestic violence history in the family, substance abuse and mental illness. Also, chronic illness, disability of the child and being a single parent raising a child. Furthermore, poverty has been linked to the likelihood of child abuse as well. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 8 As nurse practitioners, we have to understand and strive to become educated in the factors mentioned above. By implementing interventions with the use of screening and anticipatory guidance we can also help lessen the incidence of abuse (Caneira & Myrick, 2015, p. 640). Our role will become that of providing the physical, emotional and social needs of that patient and the family (Caneira & Myrick, 2015, p. 641). We must strive to become educated about child abuse and the presentations of abuse. Also, we must increase our familiarity with the diagnosis among providers and be able to recognize the relationship of the mechanism of injury and the patterns (Caneira & Myrick, 2015, p. 641). The psychological and medical needs of our patient plus the financial implications in treatment must be considered at all times. In the final analysis, the most vital piece, in any case, is that we MUST have an accurate diagnosis (Caneira & Myrick, 2015, p. 641). PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A imperfecta, rickets, copper deficiency, and metaphyseal dysplasias. Unless there is a history of mechanism injury or the child has the conditions above, then multiple fractures may be an indication of child abuse (Caneira & Myrick, 2015, p. 643). With any patient who presents when there are concerns for abuse, they should be stabilized and sent to a tertiary trauma facility. With less severe injuries a full head-to-toe exam needs to be performed. The history relayed by the family must be documented fully and thoroughly. When considering Osteogenesis Imperfecta, a venous blood sample must be taken (Caneira & Myrick, 2015, p. 644). There also should be a DNA analysis or skin biopsy (Caneira & Myrick, 2015, p. 645). With any skeletal injury, the child less than two with suspected physical abuse should have the injury area X-rayed and a radiologic skeletal survey screening. As a precaution, CT scans of the head and an MRI can be performed for suspected fracture or intracranial bleeding. In cases like this, there needs to be complete detailed documentation PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 9 (Caneira & Myrick, 2015, p. 645). PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 10 PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Lor na, 6/8/2016 4:18:29 PM If a child presents to the ER or clinic, I don't think contacting an attorney is the first step. Staying with the child and assessing the child and the relationship is important, and if there is abuse, if the practitioner leaves the room to make a call, the parent could leave abruptly with the child and the opportunity to stop the abuse may be lost. Seeley (2011) discussed the fear and insecurities that caretakers or parents go through when facing medical professionals, social workers, and the police, which may even result in false confessions just to protect themselves and the child. This makes me think of many of the minority groups on the Big Island of Hawaii and how many children do not receive regular medical care, and one PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A of the reasons it related to the fear of the child being taken away. We have Micronesian communities where the children are not necessarily being cared for by the birth parents, and taking the child to the doctor or hospital can mean social workers and other getting involved, and the child potentially being PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 11 lost to the 'parents'. One situation I frequently saw in the hospital was that if a teenager or young woman becomes pregnant, she may be cared for by someone in the community and then 'gift' the child to the couple that cared for her. There could be a great deal of fear involved PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A ones most commonly effected (Beary & Chines, 2016, p. 1). The COL1A1 and the COL1A2 are the most common mutated genes associated with OI. Depending on the type of OI there are different genes that are mutated. In type 3, there have been mutations in SERPINH1, SERPINF1, and SP7/OSX that have caused changes in the encoding of proteins that involved in bone formation and homeostasis (Beary & Chin, 2016, p. 2). Usually OI is diagnosed during prenatal care by ultrasound usually during the 18-24 week gestation period (NIH, 2013, p. 1). The second diagnostic tool is xray but since there is already one on file a repeat one would be unnecessary. Other testing can include genetic testing and mapping as well as a bone density test (NIH, 2013, p. 1). Beary, J. & Chines, A. (2016) Osteogenesis imperfect: Clinical features and diagnosis. UpToDate.com, Retrieved at: http://www.uptodate.com/contents/osteogenesis-imperfecta- clinical- features-and-diagnosis? PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A National Institute of Health (2013) What are symptoms of osteogenesis imperfect? Retrieved athttps://www.nichd.nih.gov/health/topics/osteogenesisimp/conditioninfo/ Pages/symptoms.asp Rechel DelAntar 6/5/2016 9:50:00 PM Genetic Disorder Hello Professor and Class, PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 13 Genetic Disorder This is a legal case of possible child abuse of which the defendant may face loos of her child as well as 15 years in prison if proven guilty. The records indicate 4- year-old child in the ER with a broken arm and broken leg and indications of previous multiple fractures. Upon examination noted blue sclera, sunken chest wall, sever scoliosis and a triangular face with a prominent brow, which indicated the child may be suffering from a genetic disorder called: Osteogenesis Imperfecta (Type III) = Otherwise known as Brittle Bone Disease, Ekman-Lobstein Disease Type I or Vrolik Disease Type II. This is a congenital bone PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A remains a diagnosis of exclusion. There are several suggestions by the OI foundation to determine whether the fractures are from OI or child abuse: 1. Obtain a family history = Has either parent ever been diagnosed with OI or any brittle bone disorder? Do either parent, siblings, or extended family members have a history of childhood fractures, spinal curvature, brittle teeth, hearing loss, or other clinical features that might indicate that they have a mild case of OI that was never diagnosed? 2. Look for clinical signs of OI = blue sclera; translucent, opalescent, or discolored teeth (even in unerupted teeth in babies); a triangular shaped face; barrel-shaped rib cage; easy bruising; thin skin; excessive sweating; and other features. 3. Do diagnostic testing = An analysis of type I, III, and V collagens synthesized by fibroblasts may be helpful. Collagen synthesis analysis is performed by culturing PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A dermal fibroblasts obtained during skin biopsy together with analyzing the amino acid composition of the collagen. Laboratory testing for OI may also include either biochemical testing or DNA-based sequencing of COL1A1 and COL1A2 (Osteogenesis Imperfecta Foundation, n.d.). References: Fuller, E., Bell, M., Bharatha, A., Yeung, R., Aviv, R. and Symons, S. (2011). Case of the month #171: Osteogenesis imperfecta of the temporal bone. Canadian Association of Radiology. 62(4), 296-298. National Organization for Rare Disorders. (2016). Osteogenesis Imperfecta. Retrieved from http://rarediseases.org/rare-diseases/osteogenesis- imperfecta/. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Osteogenesis Imperfecta. (n.d.). Child Abuse or Osteogenesis Imperfecta? Retrieved from http://www.oif.org/site/DocServer/ Child_Abuse Child_Abuse_or_Ostegenesis_Imperfecta.pdf? docID=7189. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A improperly formed or insufficient in quantity (McCance, K.L., et. al., 2013). There are 25 types of collagen in the body, which binds and keeps the body intact. The severity of the OI phenotype and the related anomalies of the eye, dentition, or vascular system are all dependent on the severity of the genetic anomaly and the part of the triple helix that is affected. The sclera is the white outer coating of the eye and contains collagen. In OI sufferers, depending on the severity, collagen deficiency causes the sclera to be thinner and more translucent allowing the underlying tissue to show through causing a blue colored sclera (Brittle Bone Society, 2013). References: Brittle Bone Society. (2013). Factsheets: OI. Retrieved from http://brittlebone.org/about-oi/fact PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A sheets/. McCance, K.L., Huether, S.E., Brashers,V.L. and Rote, N.S. (2013). Pathophysiology: The biologic basis for disease in adults And children (7th ed.). St. Louis, MO: Mosby. Liberty Neoh 6/6/2016 3:41:04 AM Discussion Part One Dr. Brown and Class, This patient most likely has Osteogenesis Imperfecta (OI). Osteogenesis Imperfecta is a genetic disorder of the connective tissue. The incidence of OI is between 1 in 15,000 and 1 in 60,000 births. Types 1 and 4 are autosomal dominant. It can range from PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A mild to moderate osseous fragility and may not have the secondary characteristics, such as blue sclera, dentogenesis imperfecta or presenile hearing loss. Type 2 is routinely fatal in the perinatal period. Type 3 is either autosomal dominant or autosomal recessive and has a marked pattern of osseous fragility with associated growth retardation and progressive bone deformation. Molecularly, the alternation of collagen strands with normal interactions and strands with increased repulsion due to the presence of glycine replacements may hinder normal fibril packing, leading to a partial loss of the lateral crystallinity. These molecular changes are feature often observed in OI tissues. As a result, patient may present in emergency room or the clinic with bone fractures, bone deformity, scoliosis, and blue sclera (Greely et al, 2014). PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Jennifer Roth 6/6/2016 3:26:08 PM Part 1 Hello Dr. Brown and Classmates, The most likely diagnosis for this patient is Osteogenesis Imperfecta (OI). OI is an inherited connective tissue disorder with a variety of presentations. OI is characterized by brittle bones, fractures, and extraskeletal manifestations. Children with milder OI may have few obvious clinical features. It is also important to recognize that some of the features of OI are age dependent (OI Foundation, 2015). The patient exhibits new and old fractures, multiple fractures, blue sclera, sunken chest wall, severe scoliosis, triangular face, and a prominent forehead. All of these are signs and symptoms of OI. According to the OI foundation (2015), multiple fractures; bone deformities, bone pain, short stature, scoliosis, low bone density, hearing loss, dentinogenesis imperfecta, respiratory issues, vision issues, ligament laxity, muscle weakness, easy bruising, cardiac issues, fatigue, macrocephaly, and PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A distinctive skull PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 17 abnormalities. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Cundy, T. (2012). Recent advances in osteogenesis imperfecta. Calcified Tissue International, 90(6), 439-449. doi: 10.1007/s00223-012- 9588-3 Osteogenesis Imperfecta (OI) Foundation. (2015). Retrieved from: www.oif.org PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 19 component of lung connective tissue just like it is a major part of bones and other connective tissue (OI Foundation, 2015). It is known that abnormalities in lung collagen PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A occur in OI, but not the specifics at this time. Research shows that pectus excavatum is associated with scoliosis (OI Foundation, 2015). Almost all studies of scoliosis and bone densities show that people with the disorder have low bone densities (OI Foundation, 2015). Reference Osteogensis Imperfecta Foundation. (2015). Retrieved from: PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 20 Lanre Abawonse 6/6/2016 9:41:30 PM Discussion Part One What is the most likely genetic disease that this presents and why? PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 21 take an extraordinary approach in getting the parents to give adequate history of their child. The appropriate authorities need to be notified early to ensure child safety (McCance, Huether, PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Midwifery, 20(4), 37-38 2p. Instructor Brown reply to Lanre Abawonse RE: Discussion Part One PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A What part of the process would cause discolored teeth? 22 PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Biria, M., Abbas, F. M., Mozaffar, S., & Ahmadi, R. (2012). Dentinogenesis imperfecta associated with osteogenesis imperfecta. Dental Research Journal, 9(4), 489–494. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 23 Jonathan Bidey 6/7/2016 7:50:29 AM Discussion Part One Dr. Brown and Class, After reviewing this case, I would diagnose this patient with ontogenesis imperfect (OI). OI is an PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A autosomal dominant disease condition caused by a mutation in either one or both of the genes COLIA1 or COLIA2 (D’Eufemia et al., 2012). As a result of these mutations, coding for the formation of type I collagen is altered. Since bones and blood vessels are predominantly constructed of type I collagen, those with this gene mutation have brittle, weak bones, and bruise frequently (McCance & Huether, 2014). Since the child in question has several fractures, including healed fractures, and bruising, I would also suspect child abuse. However, the patient is exhibiting additional symptoms which would be more indicative of OI. These symptoms include blue sclera, a sunken chest wall, scoliosis, triangular face, and prominent forehead (McCance & Huether, 2014). In OI, the lack of proper collagen causes bones and structures to form incorrectly, and the sclera to remain thin, giving it the effect of a blue appearance (D’Eufemia PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A et al., 2012). With this in mind, prior to calling the police, health care workers should have further differentiated between abuse and potential other causes. When trying to differentiate between abuse and OI, one should obtain additional radiographic films. Rib cage fractures and bucket handle fractures are often used to differentiate between OI and abuse (D’Eufemia et al., 2012). Rib cage fractures have a 95% predictive value for child abuse, and are extremely rare in patients with OI (D’Eufemia et al., 2012). Also, bucket handle fractures, or metaphyseal lesions, are caused by violent shaking. This injury causes thickening around the metaphyseal, the wide potion of long bones located before the joint. This injury is almost always indicative of abuse, and rarely occurs in OI patients (D’Eufemia et al., 2012). By evaluating for these typical abuse-related injuries, a better evaluation for abuse could have been made. - PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 24 6/7/2016 9:13:56 PM PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 25 Jonathan: I read your thread with interest and wanted to interject some additional thoughts. Reporting abuse is always a consideration when you suspect your patient might be a victim of child abuse based on your findings. I understand the significance of reporting and have come across certain forms of child abuse as a practicing nurse. I have seen neglect and physical abuse, as well as emotional and sexual abuse of children. On the other side of the coin, it is very easy to jump the gun and accuse parents, guardians, or relatives of abusing a child. Based on that premise, I have found some information that is so important for future advanced nurse practitioners to consider. The Osteogenesis Imperfecta Foundation (2016) has given suggestions that parents and guardians can utilize to avoid being accused of abusing a PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A child in their custody. They suggest carrying documentation of the diagnosis. A letter from the primary care physician or specialist that includes night-time and weekend contact information would also be useful. They also suggest meeting with the physician who supervises the emergency department at the hospital where the child was evaluated. Also, discussing with the specialist how to handle a fracture that may happen overnight, on weekends or holidays would be advantageous (Osteogenesis Imperfecta Foundation, 2016). The United States Surgeon General suggests that consideration of congenital disorders should be considered when children obtain fractures, especially with little trauma (Osteogenesis Imperfecta Foundation, 2016). Eufemia et al., (2012), have written a very interesting article involving Osteogenesis Imperfecta and child abuse. It is an interesting article to read. The case they presented is that while child abuse is pervasive, we must also consider all causes. Even the rare diseases, such as Osteogenesis Imperfecta, and obtain an accurate diagnosis before we wrongly accuse a family or guardian. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 26 went and pulled the article you mentioned and Jonathan I went to the website you mentioned and found both to be very informative and enlightening. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Before nursing I worked as an accountant and found myself reported for child abuse by an ER nurse. My daughter was eight years old and was pushed off the top of the slide during morning recess at school. The school did not contact me at work because they believed it was just a sprain and that put an ice pack on it. When I arrived to pick her up at the end of her school day I found her arm swollen three times its normal size and crying about how much it hurt. After a few choice words were delivered to the principal and school nurse I took her to the nearest emergency room to be checked. I explained what I was told that happened and after X-rays I was told her arm was fractured in two areas and a cast was put on. The ER Doctor had contacted the school to verify what had occurred whereas the nurse had her doubts and contacted Department of Children's Services and reported me as abusing my child. Before I knew it there was a police officer and a social worker there to talk to me about what happened with my daughter. Thank God the doctor had confirmed what had occurred because he was able to confirm what I had stated. At the time I was very angry at the nurse and hurt that anyone would ever think I would hurt one of my kids. But as a nurse I now understand where that nurse was coming from. With my experience I tend to evaluate the situation further before jumping on the abuse band wagon. I have known some nurses who would rather make the phone call and report abuse without looking further into the situation because they are afraid of jeapordizing their license. I do understand that but sometimes a little more information is needed before going in that direction. Thank you both for an interesting read. Debbie PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 27 PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Joleen Jimenez 6/7/2016 11:51:41 AM Part 1 Dr. Brown and class, As practitioners, we must always attempt to determine the cause of disease processes and keep an open mind while assessing the entire patient. Tunnel vision and only assessing a small part of a large picture can get practitioners into trouble with patients, themselves, and the law. The patient presented in this case study was formerly assessed by a physician who only focused on the abnormally high number of bone fractures this patient presented with. Rather than considering non- accidental trauma along with other differentials, this physician immediately turned to law enforcement crying child abuse. I commend this physician for ensuring the patient’s safety; however, it is unfair to the patient’s parents to not explore other possibilities. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 29 excessive or atypical fractures, short stature, scoliosis, basilar skull deformities, blue sclera, hearing loss, increased looseness of ligaments and skin, wormian bones, vascular weakness, poor dentition, triangular face, and easy bruising (Beary, & Chines). Rather than calling law enforcement immediately, some testing can be performed to determine the likelihood of disease. Although there is no definitive test, there are some tests that can be helpful. Serum alkaline phosphate is typically elevated as is hypercalciuria. A culture of the skin can also be conducted looking at fibroblast collagen by electrophoresis. In OI, this test will show decreased collagen levels. Ultimately, genetic counseling is an ultimate primary preventative measure. Rickets is another possible cause of the increased number of fractures seen in this patient. Rickets is typically caused by insufficient PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A vitamin D; however, this disorder would not explain the other abnormalities seen with this patient presentation. Iodiopathic juvenile osteoporosis is another possible explanation for the “brittle bones”. Like adulthood osteoporosis, children can have weakened bones from an unknown cause, but again, this disorder would not likely be the cause of this patient’s presentation. Joleen Referenc es: Beary, J., & Chines, A. (2015). Osteogenesis imperfecta: clinical features and diagnosis. UptoDate. Retrieved from https://www.uptodate.com/contents/osteogenesis-imperfecta- clinical-features-and-diagnosis#H16 McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2013). Pathophysiology: The biologic basis for disease in adults and children PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A (7th ed.). St. Louis, MO: Mosby. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Alice Jeffries 6/7/2016 4:28:55 PM Research, 469, 805-812. doi: 10.1007/s11999-101-1578-z. Retrieved at: PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 31 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032841 Disucussion Part One Dr. Brown and class, Osteneneisis imperfecta (OI) is a rare group of 11 sub- types of connective tissue disorders which can result in spontaneous fractures, slowed growth, and in certain subtypes of the genetic group of disease, can also result in blue sclera as, as described in the case study (Moul, Alladin, Navarrette, Abdenour, and Rodrigues, 2013). Due to dysfunction of collagen synthesis, bone, cartilage, PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A eye tissue, skin, and the vascualar system can be effected depending on the sub-type of the OI phenotype (McCance, Huether, Brashers, and Rote, 2013). Diagnosis is based primarily on symptoms of multiple fracture, some patients will have blue sclera, and skin cultures looking for mutations in the LEPRE1 gene (Moul, 2013). Other assessments include the length of leg bones and the scull as compared to the size of the child (Moul et al., 2013). After noting the multiple fracture and also the blue sclera, the initial clinician could have discussed that parents genetic history and also completed cultures to test for IS. Ali McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7th ed.). St. Louis, PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A MO: Mosby. Moul, A., Alladin, A., Navarrete, C., Abdenour, G., & Rodriguez, M. M. (2013). Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. Fetal & Pediatric Pathology, 32, 319-325. doi:10.3109/15513815.2012.754528 Jaimie Buckner reply to Alice Jeffries RE: Disucussion Part One Ali ce, 6/12/2016 7:58:54 PM Osteogenesis Imperfecta (OI) is a rare genetic PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 32 Dogba, M. J., Dahan-Oliel, N., Snider, L., Glorieux, F. H., Durigova, M., Palomo, T., & ... Rauch, F. (2016). Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 33 Development of the OI/ECE Questionnaire. Plos ONE, 11(1), 1-11. doi:10.1371/journal.pone.0147654 PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Matthew Dove 6/7/2016 5:04:50 PM Week 6, Case Study 1 What is the most likely genetic disease that this presents and why? Based on case study presentation of multiple previous fractures, blue sclera, sunken chest, scoliosis, triangular face and prominent forehead, this child has the genetic malady of Osteogenesis Imperfecta (OI)—specifically type III. While there are various forms of the disease on a spectrum that can be incompatiable with life to mild issues with growth and development, the symptoms of brittle bone fractures and macrocephaly with triangular face presented here are particularly salient in findings here and synomous with phenotype abnormalities associated with molecular coding errors distorting germ line editing of the triple helix with two matching alpha chains and one beta chain in the patient collagen physiology (Carroll, Kerr, 2013). From the National Institute of Health (NIH) Unites States National Library of Medicine research indicates that at a polypeptide genetic level, “Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of osteogenesis imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of osteogenesis imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When osteogenesis imperfecta is caused by mutations in the CRTAP or P3H1 gene, the condition also has an autosomal recessive pattern of inheritance OI type 3” (NIH United States National Library of Medicine, 2013). Type 3 OI is severe and these genetic permutations impact coding for type I collagen which is a vital component of blood vessels and bones. The distortion in the phenotype is profound enough to disrupt continual osteoblast function and regulation resulting in interruption (e.g. choroidal veins being thinner than normal and appearing blue) to cause symptomology (Forlino, Cabral, Barnes, Marini, 2011). Before, calling the police what should the initial clinician have done? The subtest of this case study demonstrates the gravity of child abuse accusations and speaks to the power of providers in protecting the public through our mandatory reporting. The Victims of Child buse Act of 1990 (“VCAA” or “Act”), Pub. L. No. 101-647, tit. II, § 226, 104 Stat. 4789, 4806, requires persons engaged in certain activities and professions on federal lands or in federal facilities to report ‘facts that give reason to suspect that a child has suffered an incident of child abuse’ if they learn such facts in the course of their professional activities. Failure to make a report required by section 13031 could subject such persons to criminal penalties” (General Counsel United States Department of Veterans Affairs, 2012). Removing (and potentially incarcerating) a parent from child is heavy subject matter and obtaining consequent collateral information really matters. Consulting before calling the police, a forensic specialist, checking hospital records for other incidents, imaging studies, history and physicals, and seeking first to understand the nature of this case. It is incredibly important due diligence we should perform in compiling this evidence--and do so with thoughtful and judicious process--because of the legal ramifications to our practice and the family. We are not detectives or social workers, but we are vigilant arbiters of our patient’s safety with a duty to help and promote justice where applicable. Ultimately though, while I would not PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A 34 impulsively make such accusations given the presented pathophysiology here, I would rather report (if in doubt) than not report in this type of incident and in absence of collateral evidence. PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A Excellent post. You did a wonderful job describing OI and the genetic cause of the disease. You also did a wonderful job in regard to how to handle suspected child abuse in this situation. It is the responsibility to all parties involved in the care of patients to address suspected abuse. We must remain vigilant to the issue and competent in what actions to take if abuse is suspected. Unfortunately, patients with OI will often resemble the victims of abuse. As we make our initial diagnosis, abuse may be suspected. Once a diagnosis is made, the clinician can address suspected abuse with a more informed approach. Before knowing this diagnosis, what would be the proper way to proceed. Certainly we can not ignore the clinical presentation mimicking abuse, and if we are ignorant to this diagnoses, it is our responsibility to report. With this in mind, we must all be aware of PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A what the proper protocol is for reporting abuse, as well as a set of standards within our practice. Ensuring all staff is competent in these measures is paramount to our patients' safety (Francis et al., 2012). With appropriate standards in place, abuse can be investigated through the proper, nonbiased, authorities. This will ensure patient safety without accusation by the clinician (Francis et al., 2012). - Jonath an Refer ence: Francis, K., Chapman, Y., Sellick, K., James, A., Miles, M., Jones, J., & Grant, J. (2012). The decision-making processes adopted by rurally located PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A mandated professionals when child abuse or neglect is suspected. Contemporary Nurse, 41(1), 58-69. Retrieved from http://eds.b.ebscohost.com.proxy.chambe rlain.edu:8080/eds/pdfviewer/ pdfviewer? sid=6fccef1b-4fa9-4242-a648- 4b708695b3ae%40sessionmgr105&vid=11&hid=127 Michelle Demey 6/7/2016 5:45:57 PM Discussion Part One PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One Graded A