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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 -
RNA Biology Jan 2023Cancer is a multi-factor systemic malignant disease, which has seriously threatened human health and created a heavy burden on the world economy. Metabolic... (Review)
Review
Cancer is a multi-factor systemic malignant disease, which has seriously threatened human health and created a heavy burden on the world economy. Metabolic reprogramming, one of the important signs of malignant tumours, provides necessary nutrition for tumorigenesis and cancer development; thus, it has recently become a research hot spot, even though the metabolic mechanism is quite intricate. Circular RNA (circRNA) affects cancer cell metabolism through various molecular mechanisms, playing an important role in promoting or suppressing cancer. Because of the structure characteristics, circRNA is quite stable, and can be utilized as biomarkers. In this review, we analysed and summarized the characteristics and biological functions of circRNA and comprehensively reviewed and discussed the important role of circRNA in cancer metabolic reprogramming. This review will provide new ideas for developing new anti-cancer therapeutic targets, mining cancer diagnostic and prognostic markers, and will provide guidance for other researchers to design circRNA-related experiments and develop anti-tumour drugs.
Topics: Humans; RNA, Circular; Neoplasms; Carcinogenesis; Cell Transformation, Neoplastic
PubMed: 37599427
DOI: 10.1080/15476286.2023.2247877 -
Frontiers in Genetics 2023Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase...
Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. This report conducted a retrospective analysis to investigate the clinical characteristics, genotypes and management strategies in a large cohort of Chinese patients with MPS II. In this study, we explored 130 Chinese patients with MPS II between September 2008 and April 2022. Clinical manifestations, auxiliary examination, IDS pathogenic gene variants and IDS enzyme activity, surgical history were analysed in the study. A total of 130 patients were enrolled and the mean age at diagnosis was 5 years old. This study found the most common symptoms in our patients were claw-like hands, followed by coarse facial features, birthmarks (Mongolian spot), delayed development, inguinal or umbilical hernia. The most commonly cardiac manifestations were valve abnormalities, which were mitral/tricuspid valve regurgitation (71.9%) and aortic/pulmonary valve regurgitation (36.8%). We had found 43 different IDS pathogenic gene variants in 55 patients, included 16 novel variants. The variants were concentrated in exon 9 (20% = 11/55), exon 3 (20% = 11/55) and exon 8 (15% = 8/55). A total of 50 patients (38.5%) underwent surgical treatment, receiving a total of 63 surgeries. The average age of first surgery was 2.6 years, and the majority of surgery (85.7%, 54/63) was operated before 4 years old. The most common and earliest surgery was hernia repair. Three patients were died of respiratory failure. This study provided additional information on the clinical, cardiac ultrasound and surgical procedure in MPS II patients. Our study expanded the genotype spectrum of MPS II. Based on these data, characterization of MPS II patients group could be used to early diagnosis and treatment of the disease.
PubMed: 36713083
DOI: 10.3389/fgene.2023.1103620 -
Frontiers in Pharmacology 2022Medicinal plant diversity (MPD) is an important component of plant diversity. Over-collection based on medicinal and economic value has the potential to damage the...
Medicinal plant diversity (MPD) is an important component of plant diversity. Over-collection based on medicinal and economic value has the potential to damage the stability of the regional ecosystem. It is important to understand the current distribution of MPD and the factors influencing it. However, it is still unclear whether environmental and socioeconomic conditions have an impact on their distribution. We selected the Inner Mongolia as a representative study area which covers a wide area, accounting for 12.29% of China's national land area and 0.79% of the world's land area. At the same time, the region is a long-standing traditional medicinal area for Mongolians in China. Therefore, the region is significantly influenced by changes in environmental factors and socio-economic factors. We used 9-years field survey of the distribution of medicinal plants in Inner Mongolia for assessing the distribution of MPD as influenced by environmental and socioeconomic activities by combining spatial analyses, species distribution models, and generalized additive models. The results from the spatial analysis show that the western region of Inner Mongolia is the main cold spot area of the MPD, and the central-eastern and northeastern regions of Inner Mongolia are the main hot spot areas of the MPD. At the same time, the distribution of cold spots and hot spots of MPD is more obvious at large spatial scales, and with the refinement of spatial scales, the cold spots in scattered areas are gradually revealed, which is indicative for the conservation and development of MPD at different spatial scales. Under the future climate change of shared socioeconomic pathways (SSP), areas with high habitat suitability for medicinal plants remain mainly dominated by the Yellow River, Yin Mountains, and Greater Khingan Range. Notably, the SSP245 development pathway remains the most significant concern in either long- or short-term development. The nonlinear relationship between the driving factors of MPD at different spatial scales shows that temperature, precipitation and socioeconomic development do have complex effects on MPD. The presence of a certain temperature, altitude, and precipitation range has an optimal facilitation effect on MPD, rather than a single facilitation effect. This complex nonlinear correlation provides a reference for further studies on plant diversity and sustainable development and management. In this study, the spatial distribution of medicinal plant resources and the extent to which they are driven by ecological and socioeconomic factors were analyzed through a macroscopic approach. This provides a reference for larger-scale studies on the environmental and socioeconomic influences on the distribution of plant resources.
PubMed: 36339592
DOI: 10.3389/fphar.2022.979890 -
Cureus Dec 2021The term "Mongolian Spot" rather than the preferred descriptive name congenital dermal melanocytosis (CDM) continues to be used despite compelling objections to the...
The term "Mongolian Spot" rather than the preferred descriptive name congenital dermal melanocytosis (CDM) continues to be used despite compelling objections to the contrary. Terms that stigmatize a culture, region, people, country, communities, and ethnic group should be replaced by their more descriptive counterparts. Herein, we clarify terminology, discuss the historical significance, and provide a recommendation about naming this disease.
PubMed: 35036226
DOI: 10.7759/cureus.20396