Lipodystrophy Syndrome

This systematic review protocol is registered with PROSPERO, under the registration number CRD42017060339, and may be accessed online at

National Library of Medicine. National Institutes of Health, 14 Mar. 2017. Web. 17 Mar. 2017.

The study was a systematic review of scientific papers selected by a search of the SciELO, Cochrane, MEDLINE, and LILACS-BIREME databases. Among the 2169 articles found, 12 studies proved relevant to the issue and presented an evidence strength rating of B. No publications rated evidence strength A. Seven of the studies analyzed were prospective cohorts and 5 were cross-sectional studies.

Health, N. I. (2013, April 17). U.S. National Library of Medicine. Retrieved from http://www.bradenscale.com/: https://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/LNC_BRADEN/

Research methods and data analysis are emphasized. Target audience: First and second-year medical students will be eligible for summer fellowships.

The study used Duchenne Muscular Dystrophy patients age-matched with healthy volunteers to take serum sample and test for metabolic biomarkers. Fourteen metabolites were found using a coupled system of liquid chromatography and mass spectroscopy. Of the fourteen found, the researchers found a ratio of creatine to creatinine that increases with age in Duchenne Muscular Dystrophy patients and decreases with healthy volunteers.1

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

DMD is an X-linked recessive chromosomal that affects 1 in 5,000 males (Yiu and Kornberg). DMD rarely affects females and when they are affected the severity of the disease is much milder than the male cases (Bushby, Finkel and Birnkrant). The mother is the carrier of the DMD gene in 2/3 of cases and can be genetic. The remaining 1/3 of cases are spontaneous mutations that occur in the mother’s egg (Wong, McClaren and Dalton). Males have a 50% chance of inheriting the mutated gene from their mother and presenting with DMD, daughters have 50% chance of inheriting the gene and being a carrier (carriers may not show symptoms but can pass the mutated gene on to their offspring). Fathers cannot pass the gene on to their sons but will pass it on to their daughters (The Muscular Dystrophy Association). The mutation in the DMD gene disrupts dystrophin production. Dystrophin is a protein that is responsible

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

The database utilized in the search was the Shapiro Library and EBSCOhost search engine for relevant articles. The inclusion criteria contained: peer reviewed scholarly, academic journals and date range of 2013 to 2017. Limiting the search criteria for recent relevant articles which had been validated by peers produces data that has trustworthiness and merit. The final sample was determined based on the population in the study, staffing levels and patient quality outcomes.

Nidhi Gupta MD: 2nd year Pediatric Endocrinology fellow with clinical research and systematic reviews/meta-analysis focused on childhood obesity, lipodystrophy, patient education and quality improvement. Completed medical school

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

A systematic literature review was conducted to include articles published in English and limited to peer-reviewed journal articles written after the year 2000. The databases used were Scopus, PubMed and Medline. Two series of search terms were used: 1) (diabetes) AND (food OR fruit OR vegetable OR nutrition

An extensive literature search was conducted regarding the topic of this paper. Databases utilized were: CINAHL, MEDLINE, PubMed, EbscoHost, and Google. Inclusion criteria included English language only research articles and publication dates ranging from 2009 to 2014