Bleeding diathesis due to vitamin K deficiency in an infant with cystic fibrosis

AbstractWith the wide implementation of newborn screening for Cystic Fibrosis, infants are being diagnosed in the presymptomatic phase of the disease. Nutritional deficiencies (hypoalbuminemia) and fat soluble vitamins A, D and E deficiencies, due to pancreatic insufficiency and malabsorption, have been reported in the past at the time of diagnosis.1,2 Rarely, infants with CF present with severe bleeding disorder, secondary to vitamin K deficiency, in the first months of life.3 To our knowledge, this is the first case report illustrating bleeding diathesis in a one month old infant with CF. He was diagnosed by newborn screening and presented with a gastrointestinal bleeding due to vitamin K deficient coagulopathy

Overcoming barriers to a successful transition from pediatric to adult care

As life expectancy for people with cystic fibrosis (CF) has increased dramatically, so has the need for a guided, structured transition from pediatric to adult-focused care. A formalized transition program allows for seamless transfer of patients between providers, helping to ensure continuity of care, and avoid potential declines associated with inconsistent medical care. New CF Center guidelines issued by the CFF strongly recommend that each center establish a transition program for age-appropriate transition to an adult CF clinic. In this article, we explore the remaining barriers to establishing a transition program in a CF Center and offer examples of several successful models. We describe CFF-sponsored and other initiatives that exist to support centers in establishing a transition program and discuss the need for ongoing research in this area

Prevalence of hearing and vestibular loss in cystic fibrosis patients exposed to aminoglycosides

AimCystic Fibrosis (CF) patients frequently use aminoglycosides (AGS) to treat CF exacerbation due to colonization with Pseudomonas aeruginosa. Although AGS can cause vestibular and auditory sensory losses that can negatively impact quality of life, little is known about the prevalence of vestibular loss in this population. The aim of this study was to determine the prevalence of hearing loss and/or vestibular dysfunction in CF patients treated with AGS.MethodsThe relationship between hearing status and vestibular status was also investigated. Hearing was determined to be normal or abnormal based on pure tone air and bone conduction thresholds. Vestibular outcome was divided into four categories; normal, non‐lateralized vestibular dysfunction, unilateral loss, and bilateral loss based on results of post head shaking testing, positional and positioning testing, bithermal calorics, sinusoidal, and rotational step testing.ResultsOf our cohort of 71 patients, 56 (79%) patients have vestibular system dysfunction while only 15 (21%) have normal vestibular system function. Overall, 16 patients (23%) have hearing loss. In considering the relationship between auditory and vestibular function, 12 (17%) demonstrated both normal hearing and normal vestibular function and 13 (18%) have both hearing loss and abnormal vestibular function. Of the 55 (78%) patients with normal hearing, 43 (61%) have vestibular dysfunction, while 3 (4%) of patients with normal vestibular function have hearing loss.ConclusionThese results suggest that monitoring hearing alone is insufficient to detect ototoxicity in CF patients being treated with systemic AGS.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138372/1/ppul23763_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/138372/2/ppul23763.pd

The impact of conventional and nonconventional inhalants on children and adolescents

AimInhalant abuse in the adolescent population is a growing concern for care givers, communities, physicians, and medical providers. The aim of this article is to provide a review of the literature about this new challenge. In addition, it raises awareness about recent health policy rulings.MethodsReview of the literature was done.ResultsIn this review article, the prevalence of different modes of inhalant use and abuse in children and young adults and their potential health implications will be examined: Cigarettes, ENDS (E Cigarettes), Hookah, Marijuana, and Huffing. Additionally, marketing and advertising tactics will be reviewed to understand how they target this population. A review of current health policy recommendations from the FDA, American Thoracic Society, and the American Academy of Pediatrics will also be discussed.ConclusionThe rapid rise in e‐cigarette and hookah use in school aged children should trigger a call to action in the medical and public health communities. Health policy recommendations need to be made to reduce the level of adolescent substance abuse.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/142898/1/ppul23836_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/142898/2/ppul23836.pd

Improving nutritional status in a pediatric cystic fibrosis center

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111789/1/ppul23128.pd

Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis?

Our objective was to describe: 1) physicians’ knowledge of whether genetic counseling is provided to parents of newborns with sickle cell trait (SCT) or who are cystic fibrosis carriers (CFC), and 2) the prevalence of genetic counseling provided by primary care physicians. We conducted a cross‐sectional descriptive survey of 600 randomly‐sampled Michigan‐based pediatricians and family physicians, assessing physician knowledge of where and whether genetic counseling is received by parents whose newborns are carriers. Chi‐squared testing determined associations between genetic counseling location and physician demographic characteristics. Our response rate was 62 %: 298 (84 %) provided infant well care (183 pediatricians, 115 family physicians). Most respondents were non‐Hispanic White (65 %). Virtually all physicians believed parents whose newborns are carriers of either SCT or CFC should receive some genetic counseling (from the physician and/or another source), yet 20 % reported that parents of newborns with SCT did not receive counseling. Parents of infants with CFC received more counseling overall (92 % vs. 80 %; p < 0.01) and were counseled more frequently by genetic counselors or specialty centers than parents of newborns with SCT (85 % vs. 60 %; p < 0.01). Although physicians agreed that parents whose newborns are carriers should receive genetic counseling, fewer parents of newborns with SCT than with CFC received counseling from any source. This finding strongly suggests the need for further education and investigation of this apparent health disparity.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147004/1/jgc40218.pd

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38583/1/10_ftp.pd

Evaluation of genetic counseling among cystic fibrosis carriers, Michigan Newborn Screening

Objective A quality improvement (QI) strategy to improve the rate of genetic counseling (GC) services was initiated in cystic fibrosis (CF) care Center E in 2010. This statewide study was conducted to determine: (1) GC rates before and after implementation of the QI strategy at Center E; (2) characteristics associated with not receiving GC; and (3) topic areas addressed during GC. Methods The retrospective study included 1,097 CF carriers born from 2008 to 2011 identified through Michigan's Newborn Screening Program. Rate of GC services was determined for Center E and the other four CF centers before and after the QI change. Bivariate and multivariable logistic regression was used to determine associations between select characteristics and not receiving GC. Topic areas discussed during GC sessions were assessed using frequency tables. Results Rate of GC services in Center E increased from 23% in 2008–2010 to 91% in 2011, while at the other centers approximately 92% received GC services across those years. In 2008–2010, being seen at Center E and black race were significantly associated with increased likelihood of not receiving GC services in adjusted analyses. In 2011, neither characteristic was associated with receipt of GC. Of 16 target topic areas, all were discussed in 85% of GC sessions. Conclusions Implementing a QI strategy of providing sweat test results at the GC appointment within Center E resulted in more CF carriers receiving comprehensive GC services. Center‐specific procedure differences should be assessed to increase rate of GC services following a positive CF newborn screen. Pediatr Pulmonol. 2013; 48:123–129. © 2012 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/96254/1/22703_ftp.pd

Progressive Scoliosis in a Child with Cystic Fibrosis

We discuss an adolescent female with cystic fibrosis, asthma, and scoliosis who had a rapid decline in her pulmonary function despite typical treatment for a cystic fibrosis exacerbation. Ultimately, she had a fixed airway obstruction likely due to her progressive scoliosis, which improved following surgical intervention