A study examined the clinical features and outcomes of COVID-19 in children and adolescents with diabetes in South Korea during early 2022.
Out of 123 participants, 35 children with diabetes contracted COVID-19, with no significant differences in diabetes type, sex, or other health metrics compared to those without COVID-19.
All affected children experienced mild symptoms and managed their illness at home, with unvaccinated children showing a higher incidence of prolonged fevers compared to their vaccinated peers.
The study focused on understanding the genotype-phenotype relationships in children with Gitelman syndrome (GS) by analyzing genetic variations in the SLC12A3 gene in 50 Korean children.
The median age for diagnosis was 10.5 years, with 68% having biallelic variants; those with truncating variants experienced more severe electrolyte imbalances compared to those without.
Findings suggest that children with monoallelic SLC12A3 variants exhibited similar clinical symptoms and treatment responses as those with biallelic variants.
This study focused on childhood-onset lupus nephritis (LN), examining the clinical features, kidney outcomes, and risk factors related to prognosis in 216 patients across South Korea.
Most patients presented with nephrotic syndrome or hematuria, and the most common kidney damage was WHO class IV LN, with nearly 15% developing advanced chronic kidney disease (CKD) after an average follow-up of about 8 years.
Key risk factors identified for advanced CKD included being male and not achieving remission within the first year of treatment, indicating the need for careful monitoring of these patients to improve their long-term outcomes.
- This study examined the relationship between genotype and phenotype in X-linked Alport syndrome (XLAS) among 216 Korean patients, finding that males experience earlier onset and more severe kidney failure than females.
- About 60% of male patients developed kidney failure by the age of 25, with significant differences in kidney survival based on their genetic group, while only 20% of female patients experienced kidney failure by age 50.
- The results suggest a clear genotype-phenotype correlation in both male and female patients, highlighting the need for better understanding of XLAS in women, who tend to have a later onset of symptoms.
Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine-producing neurons, influenced by factors like oxidative stress and mitochondrial dysfunction.
In this study, researchers explored how apamin (APM), which blocks a specific type of calcium channel, can reduce neuroinflammatory responses and prevent Ca overload caused by a neurotoxic compound (MPP) in human and rat neuronal cells.
The findings suggest that APM may protect dopamine neurons by inhibiting calcium overload and related signaling pathways, highlighting its potential as a treatment for neurodegenerative diseases.
Pseudohypoparathyroidism (PHP) is a rare disorder where the body resists parathyroid hormone, leading to high PTH levels and low calcium but can initially show no symptoms in infants.
A 1-month-old girl was evaluated for elevated TSH levels and later found to have skin nodules linked to PHP through a biopsy, highlighting the condition's characteristics.
Genetic testing confirmed a specific mutation in both the girl and her mother, leading to an early PHP Ia diagnosis despite normal calcium and phosphorus levels, stressing the importance of careful examinations in patients with hypothyroidism.
This study focused on pediatric rhabdomyolysis in South Korea, analyzing 880 cases from 23 hospitals to identify characteristics and risk factors related to acute kidney injury (AKI).
The most affected age group was children aged 3 to 5, with neurological disorders and infections being common causes of rhabdomyolysis, and an 11.3% incidence rate of AKI was noted among the patients.
Key risk factors for AKI were identified, including multiorgan failure and specific laboratory findings, which could help in early detection and intervention for at-risk pediatric patients.
Sphingosine kinase produces sphingosine 1-phosphate (S1P), which affects pancreatic β-cell function and could play a role in diabetes.*
-
In experiments with RIN-5F cells, glucose treatment increased insulin secretion, while alloxan did not impact insulin levels; both treatments raised S1P levels.*
-
The study suggests that MAPK/ERK signaling influences insulin and S1P production, indicating that S1P may be a potential target for diabetes treatment.*
Multiplex polymerase chain reaction (mPCR) is used to diagnose respiratory infections in kids, providing faster and more accurate results than older methods.
The FilmArray Respiratory Panel (FA-RP), an advanced mPCR assay, can quickly detect 20 different pathogens from respiratory samples in about an hour.
A study at Yeungnam University Hospital found that FA-RP had a higher detection rate and decreased hospital stay and antibiotic use, which can help combat antibiotic resistance in pediatric patients.
The study analyzed pediatric emergency department (ED) visits in Daegu, Korea, during the COVID-19 pandemic (Feb-Jun 2020) compared to the same period in 2018/2019.
It found a significant drop in ED visits for children (down by 76.9%) and adults (down by 46.4%), with severe conditions becoming more common among those who did visit.
This decline in pediatric visits highlights the need for adjusting resource allocation in EDs during health crises to better manage patient care.
- Kikuchi-Fujimoto disease (KFD) is a self-limiting lymphadenitis that presents with symptoms like high fever, lymph swelling, and low white blood cell counts, while hemophagocytic lymphohistiocytosis (HLH) is a severe condition that mimics KFD but requires intensive treatment.
- A 19-year-old male with KFD was hospitalized for fever and enlarged lymph nodes; tests revealed HLH and he was diagnosed with macrophage activation syndrome-HLH linked to KFD.
- He was treated with dexamethasone, which resolved his symptoms quickly; after tapering the medication over 8 weeks, he was discharged without any recurrent issues at the 18-month follow
*Aggrecan mutations, specifically in the ACAN gene, can lead to genetic skeletal disorders characterized by short stature and early maturation of bone age.
*A case study of a 15-year-old boy with familial short stature revealed a heterozygous ACAN mutation, indicating that such genetic factors should be considered in similar cases for potential early interventions.
Oculocutaneous albinism (OCA) is a group of genetic disorders resulting in reduced pigmentation in the skin, hair, and eyes, increasing the risk of skin cancer, with no current treatments to prevent these symptoms.
This study identifies a novel OCA2 mutation (OCA2 c.2338G>A p.(G780S)) in two unrelated Korean families, which presents an unusual autosomal dominant inheritance pattern, unlike the previously recognized autosomal recessive trait.
Remarkably, affected individuals showed normal pigmentation in their late twenties, suggesting this mutation may enhance the expression of other genes involved in melanin production, offering new insights into potential treatments for OCA.
Short stature is classified as being below the 3rd percentile in height, and this study investigates the craniofacial differences among short-statured children with growth hormone deficiency, idiopathic short stature, and healthy children.
The research involved 31 children with growth hormone deficiency, 32 with idiopathic short stature, and 32 healthy controls, analyzing their craniofacial structures using lateral cephalograms.
Results revealed significant differences in various craniofacial measurements between the two short-stature groups and the control group, suggesting orthodontic treatment plans should take these structural characteristics into account.
Immunoglobulin A nephropathy (IgAN) is a prevalent kidney condition in children and adolescents, and this study analyzed its clinical features and outcomes over the past 30 years in a sample of 1,154 patients in Korea.
Of the patients studied, 5.6% progressed to severe chronic kidney disease (CKD), with a 10-year CKD-free survival rate of 91.2% and a 20-year rate of 75.6%, showing no significant differences based on diagnosis date.
The analysis indicated that symptoms like hematuria and proteinuria at diagnosis and lower renal function increased the risk of CKD progression, emphasizing the need for more proactive treatment in cases of pediatric IgAN. *
- Neuroinflammation is critical in neurodegenerative diseases, with microglia being central to the inflammatory response and a focus for drug development.
- Apamin (APM) targets small conductance calcium-activated potassium channels and significantly inhibits proinflammatory cytokine production and microglial activation when tested on LPS-stimulated microglial cells.
- APM's anti-neuroinflammatory effects are linked to reduced expression of key proteins like phosphorylated CaMKII and TLR4, and it affects pathways involving NF-κB/STAT3 and MAPK-ERK, suggesting it could be an effective treatment for neurological disorders.
The study aimed to compare the effectiveness of predicting early recurrence of hepatocellular carcinoma (HCC) using only preoperative factors versus using both pre- and postoperative factors in a cohort of 549 patients.
Multivariable analysis identified key preoperative risk factors for early recurrence, such as the aspartate aminotransferase/platelet ratio and tumor characteristics, and after including postoperative factors, microvascular invasion emerged as significant.
The results showed that the prediction model using only preoperative factors was comparably effective to the model that included both pre- and postoperative factors, with similar areas under the curve (AUC) indicating good predictive power.
Maturity-onset diabetes of the young (MODY) is a rare type of diabetes caused by genetic mutations affecting insulin-producing cells and it makes up about 2%-5% of diabetes cases.
Identifying MODY can be tricky since it overlaps with type 1 and type 2 diabetes, but genetic testing, particularly Sanger DNA sequencing, is the best method for diagnosis.
The review highlights differences in genetic causes of MODY between Asian and Caucasian populations, and stresses the need for more research on MODY's prevalence in Asian groups.
* In a rare case, a 4-year-old with recurrent pancreatitis was diagnosed with PA after experiencing severe metabolic symptoms during treatment for acute pancreatitis.
* The case highlights that recurrent pancreatitis in children, even those not previously diagnosed with metabolic conditions, could be linked to organic acidemia like PA, warranting further investigation.
Gaucher disease (GD) is a genetic disorder caused by a lack of the enzyme glucocerebrosidase, leading to an accumulation of glucosylceramide, which can cause enlarged liver and spleen (hepatosplenomegaly).
A case study of a 15-month-old boy with chronic neuronopathic GD revealed prolonged anemia despite iron supplementation, along with other blood abnormalities and the presence of Gaucher cells in his bone marrow.
After starting enzyme replacement therapy, the boy's blood counts improved and hepatosplenomegaly decreased, but he later developed cognitive impairment and gaze palsy, resulting in a diagnosis of type 3 GD.
The study aimed to compare CT imaging features and progression patterns between intrahepatic biliary metastasis (IBM) and non-mass-forming cholangiocarcinoma (NMFC) in patients with other cancers.
It included 35 patients and found that distinct early imaging characteristics could help differentiate between IBM (often linked to colorectal cancer) and NMFC, with IBM showing smooth duct dilatation and NMFC showing irregularities.
The results highlighted that IBM typically presented an expansile mass, while NMFC was associated with infiltrative lesions, suggesting unique progression patterns useful for diagnosis.
Fibrosis is a key issue in chronic kidney disease, primarily driven by TGF-β1 signaling, with SMAD3 and STAT3 acting as crucial players in this process.
A study showed that pomolic acid (PA) reduced kidney damage and fibrosis in mice with unilateral ureteral obstruction (UUO) and inhibited harmful cell signaling related to fibrosis.
PA not only helped improve kidney condition in UUO mice but also showed positive effects on kidney fibroblast cells stimulated by TGF-β1, suggesting its potential for preventing chronic kidney disease.