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"Genetics History Juvenile literature."
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Genetics : unlocking the secrets of life
\"This title presents the history of genetics. Vivid text details how early studies of heredity and genes led to our modern understanding of how DNA works. It also puts a spotlight on the brilliant scientists who made these advances possible.\"--Publisher's website.
Book
Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is an inherited autosomal dominant condition that predisposes to the development of juvenile polyps throughout the gastrointestinal (GI) tract, and it poses an increased risk of GI malignancy. Germline causative variants were identified in the SMAD4 gene in a subset (20%) of JPS cases. Most SMAD4 germline genetic variants published to date are missense, nonsense, and frameshift mutations. SMAD4 germline alterations predicted to result in aberrant splicing have rarely been reported. Here, we report two unrelated Italian families harboring two different SMAD4 intronic variants, c.424+5G>A and c.425-9A>G, which are clinically associated with colorectal cancer and/or juvenile GI polyps. In silico prediction analysis, in vitro minigene assays, and RT-PCR showed that the identified variants lead to aberrant SMAD4 splicing via the exonization of intronic nucleotides, resulting in a premature stop codon. This is expected to cause the production of a truncated protein. This study expands the landscape of SMAD4 germline genetic variants associated with GI polyposis and/or cancer. Moreover, it emphasizes the importance of the functional characterization of SMAD4 splicing variants through RNA analysis, which can provide new insights into genetic disease variant interpretation, enabling tailored genetic counseling, management, and surveillance of patients with GI polyposis and/or cancer.
Journal Article
Genetics
\"Learn all about the history of genetics research, from how scientists began studying genes to how their discoveries affect our lives today.\"-- Provided by publisher.
Book
A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review
Background. Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. The combination of OI and inflammatory arthritis is rare. Our literature review identified 5 cases of OI-related inflammatory arthritis, but only 2 of these cases have been reported in children. Case Report. We present 3 cases diagnosed with OI and juvenile idiopathic arthritis (JIA). Two were diagnosed with enthesitis-associated arthritis, and one was diagnosed with oligoarticular JIA with laboratory findings and a magnetic resonance imaging examination. Only one of the patients had a previously diagnosed OI. For the others, whole gene sequence analysis was performed, and a mutation in the collagen type I alpha 1 (COL1A1) gene was detected. Identifying and treating inflammatory arthritis in our patients with OI improved their joint pain. Conclusion. Musculoskeletal pain is a common issue in individuals with OI and JIA. Considering children with OI may also develop arthritis, early diagnosis, and accurate treatment may be crucial. Recognizing the rare association between JIA and OI is important, as investigating this relationship could help alleviate the disease burden. Thorough evaluation and prompt diagnosis of JIA in patients with OI can significantly reduce the impact of the disease.
Journal Article
James Watson and Francis Crick
Discusses the DNA research two famous molecular biologists contributed to science.
BOOK
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review
Background
Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice.
Case presentation
A 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. His mother had died of colon cancer. He was diagnosed with familial adenomatous polyposis (FAP) and underwent total proctocolectomy and ileal pouch anal anastomosis. Two polyps were selected for pathological examination. One polyp had cystically dilated glands with slight dysplasia. The other polyp displayed severe dysplasia and was diagnosed as adenoma. Three years later, his 21-year-old son underwent a colonoscopy that revealed more than 50 pedunculated colorectal juvenile polyps. Both patients harbored a germline pathogenic mutation in
BMPR1A
. Endoscopic resection of all polyps was attempted but failed. Finally, the son received endoscopic resection of polyps in the rectum and sigmoid colon, and laparoscopic subtotal colectomy. Ten polyps were selected for pathological examination. All were revealed to be typical juvenile polyps, with cystically dilated glands filled with mucus. Thus, the diagnosis of JPS was confirmed in the son. A review of the literatures revealed that patients with JPS can sometimes have adenomatous change. Most polyps in patients with JPS are benign hamartomatous polyps with no dysplasia. A review of 767 colorectal JPS polyps demonstrated that 8.5% of the polyps contained mild to moderate dysplasia, and only 0.3% had severe dysplasia or cancer. It is difficult to differentiate juvenile polyps with dysplasia from adenoma, which could explain why juvenile polyps have been reported to have adenomatous changes in patients with JPS. Therefore, patients with JPS, especially those with concomitant dysplasia and adenocarcinoma, might be easily diagnosed as FAP in clinical practice.
Conclusions
Juvenile polyp with dysplasia is often diagnosed as adenoma, which might lead to the misdiagnosis of JPS as FAP. The differential diagnosis of JPS versus FAP, should be based on comprehensive evaluation of clinical presentation, endoscopic appearance and genetic investigations; not on the presence or absence of adenoma.
Journal Article
The crown-of-thorns seastar species complex: knowledge on the biology and ecology of five corallivorous Acanthaster species
Coral-eating crown-of-thorns seastars (CoTS,
Acanthaster
spp.) are major contributors to the coral reef crises across the Indo-Pacific region. Until recently, CoTS throughout the Indo-Pacific were regarded to be a single species,
Acanthaster planci
. However, genetic and morphological analyses demonstrated that there are at least four distinct species:
Acanthaster benziei
in the Red Sea,
Acanthaster mauritiensis
and
A. planci
in the Indian Ocean, and
Acanthaster
cf.
solaris
in the western Pacific.
Acanthaster
cf.
ellisii
in the eastern Pacific needs more taxonomic attention. Here, we review the biological knowledge for each species adapting a pragmatic geographical species definition and using a systematic literature review complemented with more focused searches for individual species. The vast majority of CoTS research (88%) was conducted on
A.
cf.
solaris
, with much of this research undertaken on the Great Barrier Reef or in Japan. Many studies of
A.
cf.
solaris
are focused on monitoring or documenting incidences of outbreaks, though there is a solid base of knowledge on larval, juvenile and adult ecology derived from field and laboratory experiments. By contrast, most of the published studies on the four remaining species simply document cases of population outbreaks. The major taxonomic bias in CoTS research constitutes a significant limitation for understanding and managing these species for two reasons. First, even for
A.
cf.
solaris
, which is the most studied species, limited fundamental knowledge of their biology and ecology constrains understanding of the drivers of outbreaks and hinders corresponding management actions for prevention and control of these events. Second, understanding and management of other species are predicated on the assumption that all CoTS species have similar biology and behaviour, an unsatisfying assumption for ecosystem management.
Journal Article
Mother strawberry poison frogs might supplement nutritive eggs with secretory provisioning
Many animal lineages produce and provision offspring with nutritive material such as milk, lipid-enriched skin, or mucus. Some frogs deposit offspring into small pools of water known as phytotelmata, and a subset of those species also provision offspring with eggs. Often when parental frogs enter the water, oophagous tadpoles swim erratically, vibrate, nip, and even suck on adult skin, which has traditionally been interpreted as begging and tactile stimulus for oviposition. However, these behaviors are also consistent with the hypothesis that such mouth-to-skin contact serves the function of acquiring secretory provisioning from parents, as in the mucophagous fry of some fishes. Here we present images obtained with a macro lens at 6 K resolution of mother-offspring interactions in the strawberry poison frog, Oophaga pumilio, that suggest that tadpoles not only poke or nip maternal skin during feeding visits, but rather forcefully suck on it. We compare these observations to those from numerous lower resolution videos of previous experiments with O. pumilio, and place the findings in the context of a literature review of both anecdotal evidence of mother-tadpole interactions across phytotelm-breeding anurans and secretory provisioning across the animal kingdom. We propose that (1) skin sucking behavior may involve the transfer of nutritive mucous secretions or other defensive, immunological, hormonal, or microbial factors from mother frogs to tadpoles and that (2) such secretions may serve to supplement egg provisioning in this and other frogs with oophagous and phytotelm-dwelling larvae.
Journal Article
Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review
Background
Huntington’s disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.
Case presentation
A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients.
Conclusion
The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette’s syndrome (TS).
Journal Article
Hard facts : setting and form in the American novel
American culture has often been described in terms of paradigmatic images--the wilderness, the Jeffersonian landscape of family farms, the great industrial cities at the turn of the 19th century. But underlying these cultural ideals are less happy paradoxes.
eBook