GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Late infantile form of multiple sulfatase deficiency
    Bioscientifica ; 2020
    In:  Endocrinology, Diabetes & Metabolism Case Reports Vol. 2020 ( 2020-09-23)
    Details
    In: Endocrinology, Diabetes & Metabolism Case Reports, Bioscientifica, Vol. 2020 ( 2020-09-23)
    Abstract: Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient’s MSD signs in spite of the severity of her MSD condition made her case worth further studying. Learning points: Treating dermatologic signs and symptoms greatly eased our patient’s discomfort. We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient. As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis. If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.
    Type of Medium: Online Resource
    ISSN: 2052-0573
    URL: Article
    DOI: 10.1530/EDM-20-0128
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2020
    detail.hit.zdb_id: 2785530-2
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Long-term Trends in Hypertension Prevalence, Awareness, Treatment, and Control Rate in the Middle East and North Africa: a Systematic Review and Meta-analysis of 178 Population-Based Studies
    Springer Science and Business Media LLC ; 2021
    In:  Current Hypertension Reports Vol. 23, No. 9 ( 2021-09)
    Details
    In: Current Hypertension Reports, Springer Science and Business Media LLC, Vol. 23, No. 9 ( 2021-09)
    Type of Medium: Online Resource
    ISSN: 1522-6417 , 1534-3111
    URL: Article
    DOI: 10.1007/s11906-021-01159-0
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2094165-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Table_1.docx
    Frontiers Media SA ; 2023
    In:  Frontiers in Endocrinology Vol. 14 ( 2023-1-19)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-1-19)
    Abstract: Prevalence and subsequent conditions of childhood and adolescent obesity are increasing. It has been seen that obesity in youth is associated with adulthood cancer. This systematic review and meta-analysis aimed to determine the pooled association of childhood obesity with cancers in adulthood. Methods In this systematic review, international electronic databases such as Scopus, PubMed, Web of Science, and EMBASE were searched using relevant keywords until February 2022. All Cohort studies assessing the association of childhood and adolescent obesity (under 18 years old) with the incidence and mortality of all types of cancers were included. Two independent reviewers screened and carried out the quality assessment of included studies. Between-studies heterogeneity was assessed using the I squared and Cochran’s Q tests. Random/fixed-effect meta-analyses were used to pool the appropriate effect sizes (Hazard ratios (HR)). Results Overall, 46 studies were found to be relevant and were included in this study. Based on the random-effects model meta-analysis, childhood obesity increased the hazard of cancer incidence and mortality in adulthood by 33% (HR: 1.33, 95%CI (1.25, 1.41)) and by 28% (HR: 1.28, 95%CI (1.13, 1.42)), respectively. In the subgroups meta-analysis, the HR of childhood obesity and adulthood cancer incidence mortality in women was higher than in men (HR=1.39, 95%CI (1.25, 1.53) vs HR= 1.20, 95%CI (1.07, 1.32)) and (HR= 1.40, 95%CI (1.10, 1.69) vs HR=1.20, 95%CI (1.04, 1.36)) respectively. Conclusion This study found that obesity in childhood and adolescence is associated with a significant increase in the incidence and mortality of cancers in adulthood. Prevention of childhood obesity, in addition to its short-term beneficial effects, can reduce the burden of cancer in adulthood. The data sets of this study are present in the Tables of the current manuscript. Moreover this study was registered online in PROSPERO (registration code: CRD42022331958). Systemic review registration https://www.crd.york.ac.uk/Prospero/ , identifier CRD42022331958.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2023.1069164
    DOI: 10.3389/fendo.2023.1069164.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2592084-4
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
    Springer Science and Business Media LLC ; 2020
    In:  Molecular and Cellular Pediatrics Vol. 7, No. 1 ( 2020-12)
    Details
    In: Molecular and Cellular Pediatrics, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2020-12)
    Abstract: Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.
    Type of Medium: Online Resource
    ISSN: 2194-7791
    URL: Article
    DOI: 10.1186/s40348-020-00104-6
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2785551-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...