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Fulltext Expanding the phenome and variome of skeletal dysplasia

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, et al.

Genet Med, 2018 12;20(12):1609-1616.

PMID: 29620724 DOI: 10.1038/gim.2018.50

PURPOSE: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.

METHODS: Detailed phenotyping and next-generation sequencing (panel and exome).

RESULTS: Our analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.

CONCLUSION: By expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.

Matched MeSH terms: Fetal Proteins/genetics

Transplantation of human dental pulp stem cells: enhance bone consolidation in mandibular distraction osteogenesis

Alkaisi A, Ismail AR, Mutum SS, Ahmad ZA, Masudi S, Abd Razak NH

J Oral Maxillofac Surg, 2013 Oct;71(10):1758.e1-13.

PMID: 24040948 DOI: 10.1016/j.joms.2013.05.016

The main aim of the present study was to evaluate the capacity of stem cells from human exfoliated deciduous teeth (SHED) to enhance mandibular distraction osteogenesis (DO) in rabbits.

Matched MeSH terms: Fetal Proteins/analysis

Fulltext Proliferative activity of cells from remaining dental pulp in response to treatment with dental materials

Lutfi AN, Kannan TP, Fazliah MN, Jamaruddin MA, Saidi J

Aust Dent J, 2010 Mar;55(1):79-85.

PMID: 20415916 DOI: 10.1111/j.1834-7819.2009.01185.x

The biological examination of pulp injury, repair events and response of dental pulp stem cells to dental restorative materials is important to accomplish restorative treatment, especially to commonly used dental materials in paediatric dentistry, such as glass ionomer cement (GIC) and calcium hydroxide (Ca(OH)(2)) lining cement.

Matched MeSH terms: Fetal Proteins/analysis

Fulltext Radioimmunoassay of serum alpha-fetoprotein in patients with different maliganant tumors

Lie-Injo LE, Caldwell J, Ganesan S, Ganesan J

Cancer, 1976 Jul;38(1):341-5.

PMID: 59626 DOI: 10.1002/1097-0142%28197607%2938%3A1<341%3A%3AAID-C

The level of serum alpha-fetoprotein (AFP) was estimated by radioimmunoassay in 153 normal healthy Malysians of different ethnic groups. The mean level was 7.5 In1/ml (SD 2.28InU/ml). Among 330 patients with malignant tumors, 11 had increased levels of AFP. The only patient who had hepatoma had a very high level of serum AFP. High levels were also found in three of four patients with dysgerminoma of the ovary, in the only two patients with carcinoma of the testis, and in one patient with secondary carcinoma of the humerus of unknown origin. Lower, but significantly increased levels were observed in one patient (of 48) with breast carcinoma, one patient (of 8) with basal cell carcinoma of the nose, one patient (0f 27) with carcinoma of the lung, and one patient (of 59) with nasopharynegeal carcinoma.

Matched MeSH terms: Fetal Proteins/metabolism*

Alpha-Fetoprotein levels in normal males from seven ethnic groups with different hepatocellular carcinoma risks

Sizaret P, Tuyns A, Martel N, Jouvenceaux A, Levin A, Ong YW, et al.

Ann N Y Acad Sci, 1975 Aug 22;259:136-55.

PMID: 54017

Alpha-Fetoprotein (AFP) levels of 1,335 males (15 years and older) of seven ethnic groups (Chinese, Indians, and Malays from Singapore, Caucasians from Lyon, and Blacks from Nairobi, forest, and the savanna region of the Ivory Coast) were determined by radioimmunoassay. A few elevated levels (up to 30 nanounits/ml) were detected in some normal individuals, especially in the older age-groups. In addition, there was a systematic age-dependency of AFP levels particularly evident in the groups from Singapore-Lyon, in which there was a 50% AFP increase between the ages of 20 and 40. Comparison between Africans on the one hand and people from Singapore-Lyon on the other hand revealed highly significant differences (p less than 0.001), especially in the younger groups, whereas Chinese, Malays, and Indians from Singapore had very similar AFP pattern; this suggests an important role for environmental factors in the regulation of AFP levels. The age dependency of the presumed effect of environmental factors is in keeping with experimental data showing that young animals respond more vigorously to AFP-stimulating factors. Although the incidence of hepatocellular carcinoma (HCC) differs in the three Singapore groups (the highest in Chinese and the lowest in Indians), no relationship was observed in this study between mean AFP level and HCC incidence in Singapore.

Matched MeSH terms: Fetal Proteins/metabolism*

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