Dental treatment of patients with prune belly syndrome.

BACKGROUND: Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome (EGBRS), is a rare congenital disease characterized by deficiency or absence of abdominal wall muscles, urological abnormalities, and bilateral cryptorchidism. TYPES OF STUDIES REVIEWED: A review of literature was done using four search engines (PubMed, Google Scholar, Scopus, Science Direct) and keywords (individually and in combinations): prune belly syndrome, PBS, Eagle-Barrett syndrome, dental manifestation, clinical manifestation, and psychological aspects. The search was run with no language restrictions and covered the 1965-2021 time period. RESULTS: The search yielded a large number of articles. The vast majority were dealing with a variety of treatments. PBS is a multisystem disease with a variable spectrum ranging from mild cases to infant mortality. Comorbidities of PBS (63% gastrointestinal, 65% orthopedic, and 49% cardiopulmonary) present challenges for treatment. PBS affects quality of life of patients and caregivers. We selected and summarized published information that is relevant to oral health and dental care. CONCLUSIONS AND PRACTICAL IMPLICATIONS: Providing information to dental practitioners will improve their understanding of PBS. It will help them to better treat patients with PBS and it will encourage more dental providers to welcome patients with PBS into their dental clinics.

The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A1298C variants in the pathogenesis of nsCL/P in northern Venezuela.

Pacific Craniofacial Team and Cleft Prevention Program.

There is no doubt modern genetics have greatly influenced our professional and personal lives during the last decade. Uncovering genetic causes of many medical and dental pathologies is helping to narrow the diagnosis and select a treatment plan that would provide the best outcome. Importantly, having an understanding of multifactorial etiology helps direct our attention toward prevention. We now understand much better our own health problems. In some cases, we can modify our lifestyle and diet in order to prevent "environmental factors" from triggering the mutated genes inherited from our parents. Good examples are diabetes and cardiovascular diseases. If we realize we might have inherited genes for cardiovascular problems from several ancestors who had heart attacks, we already know that these genes will make us only "susceptible" for disease. Those who exercise, watch one's weight, diet, and carefully monitor one's lifestyle will very likely--though possessing "susceptibility genes"--stay healthier and, maybe, will never experience any cardiovascular problems. In principle, the same applies for craniofacial anomalies, especially for nonsyndromic cleft lip and palate. One needs to understand genetic and environmental causes of nonsyndromic orofacial clefts in order to prevent them. With all this in mind, the Pacific Craniofacial Team and Cleft Prevention Program have been established at the Department of Orthodontics, University of the Pacific Arthur A. Dugoni School of Dentistry in San Francisco. A partnership with Rotaplast International, Inc., has made it possible for the faculty, orthodontic residents, and students to participate in 27 multidisciplinary cleft medical missions in underdeveloped and developing countries by donating professional and educational services, and, last but not least, by collecting valuable data and specimens to further research. A significant number of research studies, including 15 master of science theses, have been accomplished in UOP's Craniofacial Genetics Laboratory, with contributions by faculty, undergraduate and graduate students. It has been leading to a better understanding of etiology of nonsyndromic orofacial clefts. It has been learned that genetic factors and environmental factors are ethnicity-specific and, in many places throughout the world, location-specific. Thus, a specific protocol for cleft prevention has to be worked out based on genetic and nutritional studies of each specific population group in order to be effective. This is our ultimate goal.

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.

Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus an additional 16 families using 31 markers on chromosome 2. This analysis showed intriguing evidence of linkage to 2q (Zlr=2.26, empirical P-value=0.028 in a chromosome-wide analysis). Transmission disequilibrium tests also revealed evidence of linkage and disequilibrium for two markers in this region (D2S168 and D2S1400 with P-values=0.022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted.