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Cureus Apr 2024Mongolian spots are bluish-grey, irregular, hyperpigmented macules present at birth or that appear in the first few weeks of life. They are classified as atypical if...
Mongolian spots are bluish-grey, irregular, hyperpigmented macules present at birth or that appear in the first few weeks of life. They are classified as atypical if they occur in unusual locations without spontaneous disappearance after infancy; or if new lesions continue to appear beyond early infancy. Although they are generally considered benign, recent studies have shown that atypical Mongolian spots may be associated with inborn errors of metabolism, such as lysosomal storage disorders and neurocristopathies. An 11-month-old male presented with multiple aberrant Mongolian spots on the abdomen, back, buttocks, arms, and legs, with the largest patch measuring 10x10 cm. Additionally, the child exhibited coarse facial features, a high-arched palate, low-set ears, and a depressed nasal bridge. Systemic examination revealed hepatosplenomegaly, fundus examination showed a hazy cornea, and the urine glycosaminoglycan test was positive, prompting us to conduct further research prioritising lysosomal storage disorders. The mucopolysaccharidosis (MPS) spot test was positive, and electrophoresis for MPS revealed bands for chondroitin sulfate and dermatan sulfate, confirming the diagnosis of MPS. Enzyme assay revealed no alpha-iduronidase activity and normal beta-galactosidase activity, thus confirming Hurler's disease. This case report highlights the importance of considering atypical Mongolian spots as a potential indicator of underlying storage disorders, enabling early intervention.
PubMed: 38765368
DOI: 10.7759/cureus.58501 -
Iranian Journal of Child Neurology 2024Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive...
ABSTRACT
Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into Infantile, Juvenile, and Adult.
MATERIALS & METHODS
In this study, thirty-seven patients with GM1 and GM2-Gangliosidosis were referred to the neurology department of Mofid Children's Hospital in Tehran, Iran, whose disease was confirmed from September 2019 to December 2021. This study assessed age, sex, and developmental status before the onset of the disease, clinical manifestations, brain imaging, and electroencephalography.
RESULTS
97.20% of patients were the result of family marriage. Approximately 80% of juvenile patients were developmentally normal before the onset of the disease. Developmental delay was more common among infantile GM1-Gangliosidosis than infantile GM2-Gangliosidosis, but in total, more than 50% of GM1&GM2-Gangliosidosis patients had reached their developmental milestone before the onset of the disease. With the onset of disease symptoms, 100% of patients regressed in terms of movement, 97.20% of them mentally, and 75% of them had seizures during the disease. The most common clinical findings were cherry-red spot, Mongolian spot, macrocephaly, organomegaly, hyperacusis, and scoliosis. The most common brain imaging findings included bilateral thalamus involvement, brain atrophy, PVL, and delayed myelination. The most common finding in electroencephalography was background low voltage with abnormal sharp waves.
CONCLUSION
This study concluded that most of the patients are the result of family marriage, and most of the juvenile patients are developmentally normal before the onset of the disease. In addition, more than 50% of infantile patients reach their developmental milestones before the onset of the disease. The most common clinical findings of these patients are seizures, cherry-red spot, macrocephaly, hyperacusis, Mongolian spot, and bilateral involvement of the thalamus.
PubMed: 38617391
DOI: 10.22037/ijcn.v18i2.40751 -
Journal of Fungi (Basel, Switzerland) Jan 2024Black spot needle blight is a minor disease in Mongolian Scots pine ( var. ) caused by , but it can cause economic losses in severe cases. Sodium pheophorbide a (SPA),...
Black spot needle blight is a minor disease in Mongolian Scots pine ( var. ) caused by , but it can cause economic losses in severe cases. Sodium pheophorbide a (SPA), an intermediate product of the chlorophyll metabolism pathway, is a compound with photoactivated antifungal activity, which has been previously shown to inhibit the growth of . In this study, SPA significantly reduced the incidence and disease index and enhanced the chlorophyll content and antioxidant enzyme activities of var. . To further study the molecular mechanism of the inhibition, we conducted a comparative proteomic analysis of mycelia with and without SPA treatment. The cellular proteins were obtained from mycelial samples and subjected to a tandem mass tag (TMT)-labelling LC-MS/MS analysis. Based on the results of de novo transcriptome assembly, 613 differentially expressed proteins (DEPs) ( < 0.05) were identified, of which 360 were upregulated and 253 downregulated. The 527 annotated DEPs were classified into 50 functional groups according to Gene Ontology and linked to 256 different pathways using the Kyoto Encyclopedia of Genes and Genomes database as a reference. A joint analysis of the transcriptome and proteomics results showed that the top three pathways were Amino acid metabolism, Carbohydrate metabolism, and Lipid metabolism. These results provide new viewpoints into the molecular mechanism of the inhibition of by SPA at the protein level and a theoretical basis for evaluating SPA as an antifungal agent to protect forests.
PubMed: 38392774
DOI: 10.3390/jof10020102 -
Children (Basel, Switzerland) Dec 2023Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an...
Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann-Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype.
PubMed: 38136122
DOI: 10.3390/children10121920 -
The Journal of Dermatological Treatment Dec 2023Q-switched neodymium-yttrium aluminum-garnet (Q-switched Nd:YAG) laser has been reported as an effective treatment for nevus of Ota and acquired bilateral nevus of...
Q-switched neodymium-yttrium aluminum-garnet (Q-switched Nd:YAG) laser has been reported as an effective treatment for nevus of Ota and acquired bilateral nevus of Ota-like macules (ABNOM). Data on ectopic Mongolian spots have rarely been reported.The present study was performed to investigate the treatment efficacy of a high-fluence 1064 nm Q-switched Nd:YAG laser without tissue whitening in ectopic Mongolian spots.We included 61 patients with ectopic Mongolian spots, and 70 lesions were examined. Thirty-three lesions were treated with a high-fluence 1064 nm Q-switched Nd:YAG laser, and 38 lesions were observed without treatment. The results were assessed using a 5-quantile grading scale and melanin index using a Mexameter®.Mean follow-up duration was 14.1 ± 6.8 months for the treatment group and 17.8 ± 10.0 months for the observation group. Mean 5-quintile grading scale at final follow-up was statistically different ( < 0.001) between the two groups (treatment: 2.85 ± 1.00, observation: 0.49 ± 0.73). There was a significant difference ( < 0.001) in the Δ melanin index (initial melanin index - final melanin index) between the observation (7.1 ± 62.7) and treatment (156.7 ± 78.4) groups.High-fluence Q-switched Nd:YAG laser without tissue whitening showed good results and was well-tolerated in treating ectopic Mongolian spots.
Topics: Humans; Lasers, Solid-State; Mongolian Spot; Nevus of Ota; Melanins; Treatment Outcome; Skin Neoplasms
PubMed: 37781886
DOI: 10.1080/09546634.2023.2255057 -
Environmental Science and Pollution... Sep 2023Pesticide exposure is a major health problem that cannot be ignored, and children are particularly vulnerable and sensitive. As a result, the study of health damage in... (Review)
Review
Pesticide exposure is a major health problem that cannot be ignored, and children are particularly vulnerable and sensitive. As a result, the study of health damage in children caused by pesticide exposure has gradually developed into an important cross-disciplinary research topic. In this study, we reviewed the current state, characteristics, and trends of existing research findings and summarized them comprehensively and systematically through bibliometrics. We collected and examined a large number of studies using Citespace and Vosviewer, employing a clustering method to analyze the effects of pesticide exposure on children and to highlight the hot keywords in the research field. Through an analysis of the active time of high-frequency keywords, we found that the research field is in a hot spot, and the occurrence value of keywords was used to judge the innovation of the research results, thereby highlighting the frontier and key directions of future research in this field. We conclude that in addition to core pesticides, children, exposure, and other malaria and polychlorinated biphenyls also appear as high-frequency keywords in the research field of pesticide exposure effects on children. The core issues of concern in this field include occupational pesticide exposure and childhood leukemia, history of pesticide exposure during pregnancy and childhood leukemia, environmental factors and dietary intake and organophosphorus pesticide exposure in children, and pyrethroid pesticide exposure and neurobehavioral development in children. Future research may focus on how to control the safe use of pesticides, quantitative research on pesticide hazards, and potential effects on children's health.
Topics: Female; Pregnancy; Humans; Child; Pesticides; Environmental Exposure; Organophosphorus Compounds; Leukemia; Bibliometrics
PubMed: 37648921
DOI: 10.1007/s11356-023-29457-x -
The Australasian Journal of Dermatology Nov 2023
Topics: Humans; Infant; Gangliosidosis, GM1; Mongolian Spot; Skin Neoplasms
PubMed: 37622432
DOI: 10.1111/ajd.14146 -
The Science of the Total Environment Nov 2023The impact of snowmelt on surface hydrothermal conditions is a research hot spot given the background of global warming. However, existing remote sensing-based studies...
The impact of snowmelt on surface hydrothermal conditions is a research hot spot given the background of global warming. However, existing remote sensing-based studies have mostly focused on demonstrating the impacts of snow and are based on large time scales. How to measure the duration of snowmelt impact on surface hydrothermal conditions more accurately is a problem that needs to be addressed. We used a method to quantify the impact duration of snowmelt based on the characteristics of the phase change in land surface temperature (LST) and land surface water index (LSWI) after melting. We analyzed the snow factors that have caused the difference in impact duration and the interaction on the impact duration. The results are described as follows: (1) The LST and LSWI changes after snow melting are characterized by distinct phases. (2) The duration of the snowmelt impact on LST ranged from 4.61 days in the south to 21.23 days in the north; the effect of snow on the LSWI ranged from 8.06 days in the south to 25.38 days in the north. (3) The two durations have a significant positive correlation with snow depth and snow melt date. The combination of several snow parameters and other meteorological factors has a significant interaction effect on the duration of snowmelt influence. In most combinations where there is no interaction, the duration is significantly affected only by snow elements. The interaction can change the direction and extent of the effect of a single snow or meteorological element on the duration of snow impact. This research can supplement the theoretical basis for solving ecological problems and production in the study area, such as spring drought, forage mowing, and cold protection of livestock.
PubMed: 37598973
DOI: 10.1016/j.scitotenv.2023.166433 -
The Science of the Total Environment Jul 2023The hyporheic zone, i.e. the groundwater-surface water interface within riverine/riparian ecosystems, plays a key role in water transport, energy flow and biogeochemical...
The hyporheic zone, i.e. the groundwater-surface water interface within riverine/riparian ecosystems, plays a key role in water transport, energy flow and biogeochemical cycling at watershed scales. Water and heat exchange are fundamental processes regulating biogeochemical cycles in the hyporheic zones. To improve the understanding of hyporheic flow and heat transport in meandering streams, high-resolution measurements of water level and temperature, combined with a 3-D coupled model of flow and heat transport in the hyporheic zone of a meandering bend, were carried out during a summer flood season. Results show the distinct spatio-temporal variations of hyporheic water and heat exchange. Flooding events (the incoming flood water generated by the upstream rainfall) and local rainstorm events (the storm or rainfall occurring over the local study area) are major drivers for the coupled processes. Incoming flooding from the upper stream increases the hyporheic water and heat exchange in the riverbed and inner bank leading to the longer intra-meander residence times, and warms the riverbed and riverbanks due to the post-rainfall thermal recovery. Local rainstorm event increases hyporheic water and heat exchange flux both laterally and vertically and cools down the riverbed and riverbanks. The water exchange and thermal regimes in the intra-meander seems more driven by the local exchange flows, while the counterparts in the outer bank are dominated by the regional groundwater flow. The temperatures in the inner banks are 1 to 3 °C higher than those in the outer banks, indicating the better hydrological connectivity between river water and groundwater in the intra-meander. The meander apex is a hot spot for hyporheic water and heat exchange. The results highlight the close coupling among river morphology, hyporheic flow, and thermal heterogeneity in a meander system.
PubMed: 37116799
DOI: 10.1016/j.scitotenv.2023.163732