Polylactic acid (PLA) has been widely used in many fields because of its good biodegradability, biocompatibility, and renewability. This work studied the degradation behavior and mechanical ...properties of cellulose nanofiber (CNF)/PLA composites. In vitro degradation experiments of 3D-printed samples were conducted at elevated temperatures, and the degradation characteristics were evaluated by mechanical tests, gel permeation chromatography (GPC), differential scanning calorimetric (DSC), and scanning electron microscope (SEM). The results indicated that the addition of CNF (0.5 wt%) accelerated the degradation rate of PLA. The decreases in number average molecular weight (Mn) and weight average molecular weight (Mw) of composites were 7.96% and 4.91% higher than that of neat PLA, respectively. Furthermore, the tensile modulus of composites was 18.4% higher than that of neat PLA, while the strength was 7.4% lower due to poor interfacial bonding between CNF and PLA. A mapping relationship between accelerated and normal degradation showed that the degradation experienced during 60 days at 37 °C was equivalent to that undergone during 14 days at 50 °C; this was achieved by examining the alteration in Mn. Moreover, the degradation process caused a notable deformation in the samples due to residual stress generated during the 3D printing process. This study provided valuable insights for investigating the in vitro degradation behavior of 3D-printed products.
Continuous subcutaneous insulin infusion is limited in practical use due to poor economic condition and less imported machine. ...twice-daily injection of self-mixing short- and intermediate-acting ...insulin provides an alternative choice, which shows characteristics such as less number of injections, more accessible drugs, and multiple diets for toddlers. According to different insulin regimens, the patients were divided into two groups: group 1, in which the patients received twice-daily injections of self-mixing short and intermediate-acting insulin before breakfast and dinner; group 2, in which the patients received multiple daily injections (MDI) of rapid-acting insulin before each meal and long-acting analog once daily. According to follow-up mode in our department (follow-up visit was made every 3 months, the patients additionally returned to the hospital at one month after discharge to assess adaption to situation), follow-up records at the 1st, 3rd, 6th, 9th, and 12th month of insulin treatment were summarized. According to parametric estimated values, the decrease in HbA1c level was gradually accelerated within the first 6 months in both groups; the interaction analysis showed that the interaction effects between two groups were statistically significant at the 3rd month (P = 0.003), indicating a more obvious decreasing trend of HbA1c level in group 1 within the first 3 months, with a smaller difference in decreasing trend of HbA1c level at other time points.
This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Blood samples were ...collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 40 previously published unrelated Chinese KS patients were summarized.
Genetic sequencing identified six KMT2D variants (c.3926delC, c.5845delC, c.6595delT, c.12630delG, c.16294C > T, and c.16442delG) and one KDM6A variant (c.2668-2671del). Of them, 4 variants (c.3926delC, c.5845delC, c.12630delG, and c.16442delG) in KMT2D gene and the variant (c.2668-2671del) in KDM6A gene were novel. Combining with previously published Chinese KS cases, the patients presented with five cardinal manifestations including facial dysmorphism, intellectual disability, growth retardation, fingertip pads and skeletal abnormalities. In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and white matter myelination delay, corpus callosum hypoplasia and Dandy-Walker malformation.
In this report, five novel variants in KMT2D/KDM6A genes are described. A subset of Chinese KS patients presented with brain abnormalities that were not previously reported. Our study expands the mutational and phenotypic spectra of KS.
To investigate the associations between physical and pubertal development based on the breast development outcomes in girls.
This was a retrospective study. A total of 452 girls aged 6~8 years were ...included. Based on their breast development outcomes, the patients were divided into an idiopathic central precocious puberty (ICPP) group and a premature thelarche (PT) group. Anthropometry included measurements of height, weight, and BMI. ICPP was diagnosed when five diagnostic criteria from the current guidelines were met.
The girls with breast development at initial evaluation had a median age of 6.9 years. In total, 31.4% of patients were diagnosed with ICPP, and ICPP was rare in girls <7 years old (19%). Patients who presented with recurrence of breast development in the PT group accounted for 38.4%. At initial evaluation, the height, weight, BMI and bone age (BA) of the girls in the PT group corresponded to those of a normally developing girl at ages 7.8 years, 8.2 years, 8.6 years and 7.6 years, respectively. The girls in the ICPP group had a mean age of 7.3 years, and their mean height, weight, and BMI were 129.6 cm, 28.4 kg, and 17.0 kg/m
, which corresponded to the mean of a normally developing girl at ages 8.5 years, 9.1 years, and 10.5 years, respectively; these patients had BA of 9.2 years. Additionally, based on receiver operating characteristic (ROC) curve analysis, when the basal luteinizing hormone (LH) level was 0.32 IU/L and BMI reached 16.4 kg/m
, CPP was diagnosed in patients meeting all five diagnostic criteria for CPP, and the specificity and sensitivity were 71.9% and 88.2%, respectively.
Girls with breast development before 8 years old had a high proportion of recurrence of breast development. The physical development of these girls at the time of breast development preceded that of normally developing girls by 1-2 years. BMI is an independent risk factor for early pubertal development, and is a simple and clear predictor of ICPP. In addition to the five classic diagnostic criteria, CPP is diagnosed when physical development corresponds to the mean for a 10.5 years old girl.
Home quarantine due to the global coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on children. Lifestyle changes have led to an increase in precocious puberty (PP) among ...girls, and the underlying risk factors for this remain unclear. Thus, we aimed to assess the influence of environmental, genetic, nutritional, and other lifestyle factors on the risk of PP in girls. We evaluated the incidence of new-onset PP in girls during home quarantine for COVID-19 and analyzed the potential risk factors. This was a retrospective questionnaire and medical record-based study involving 22 representative medical units from 13 cities in Henan Province, China. Girls with new-onset PP (central precocious puberty, 58; premature thelarche, 58; age, 5–9 years) between February 2020 and May 2020 were included, along with 124 healthy, age-matched controls. The number of new-onset PP cases reported during the study period was compared with that reported between February and May in 2018 and 2019. Patients’ families completed a questionnaire to assess potential risk factors. There was a 5.01- and 3.14-fold increase in the number of new-onset PP cases from 2018 to 2020 and from 2019 to 2020, respectively; the differences were statistically significant (p<0.01). High-risk factors for PP included longer time spent using electronic devices, decreased exercise time, higher body mass index, vitamin D deficiency, young age (<12 years) of mother during menarche, consumption of fried food and processed meat, residence in rural areas, and consumption of off-season fruits. Thus, we found that lifestyle changes caused due to the COVID-19 pandemic led to a significant increase in PP in girls. Management of the risk factors identified in this study may help in PP prevention.
...research on the detailed patterns of physical development during puberty and the cut-off values and changes of hormones at the initiation of puberty and developmental maturation is rare. ......increased testosterone (T) level is usually concordant with changes in secondary sexual characteristics in boys. After 12 weeks of pump therapy, patients reported testicle and penis growth, especially testicle volume, which increased more significantly and earlier than penis size. ...beard or pubic hair appeared in 38.9% (7/18), and three patients reported initial seminal emission after 39 weeks. In Grinspon's study,5 there were no specific time points for children with pump treatment, whereas we performed LHRH stimulation tests in patients receiving pump therapy to determine the cut-off values of hormone levels at specific follow-up time points. ...this prospective study was able to determine more relevant LH ranges to determine the initiation and maturation of the hypothalamic-pituitary-gonadal (HPG) axis.
Background
Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are characterized by chronic mucocutaneous candidiasis and autoimmune diseases. Type 1 diabetes ...mellitus is one of the well-characterized autoimmune conditions.
Case presentation
We reported a 5-year-old boy who presented with polydipsia and polyuria, with a medical history of chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and abnormal liver function. Genetic analysis identified a heterozygous GOF mutation (c.866A > G, p.Y289C) in
STAT1
.
Results
Various medicines were given to the boy during the follow-up, including insulin to keep blood glucose stable, intravenous immunoglobulin and antifungal agents for recurrent infections, and antituberculosis drugs (isoniazid, rifampicin) to combat tuberculosis infection. He did not show recurrent infection, but chronic oral mucocutaneous candidiasis still occurred twice per month. The blood glucose level was well controlled.
Conclusion
This article illustrates that early diagnosis and identification of
STAT1
mutation are essential for assessing the severity of the disease and determining reasonable treatment options.
Few studies are about the relationship between anemia and obesity, and previous studies have only paid attention to BMI.
We first included body fat percentage (BF%) as an assessment indicator and ...divided it into quartiles, grouped participants into obesity and non-obesity used data from NHANES database. After adjustment for age, gender, ethnicity, education and family income, the level of soluble transferrin receptor (sTfR), and incidence of elevated CRP or HsCRP were progressively higher with increased BF%, whereas mean cell volume (MCV), natural logarithm (Ln) serum ferritin (SF), and Ln SF/sTfR were progressively reduced. Although a higher prevalence of anemia and lower hemoglobin was observed with increased BF%, but there was no statistical difference. Women in the highest BF% group demonstrated a significantly higher risk of iron deficiency compared to those in the lowest BF% group.
BF% should be given more attention, and women with high BF% should pay attention to iron deficiency.
46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and ...clinicians is the gender assignment. However, there is no standard uniform of care nor consensus at present. We sought to evaluate the current treatment's rationality and provide a reference basis for the gender reassignment in 46, XY DSD patients with a specific diagnosis.
We conducted a cross-sectional survey of gender role with the Pre-school Activities Inventory (PSAI), the Children's Sex Role Inventory (CSRI) in 46, XY DSD patients and set up control groups comparison. Psychiatrist assessed gender dysphoria in patients ≥ 8-year-old with the criteria of diagnostic and statistical manual of mental disorders, 5th edition (DSM-5).
A total of 112 responders of 136 patients participated in this study (82.4%, aged 2-17.8 years, median age: 4-year-old). The follow-up period was from 6 months to 10 years (median: 2 years). Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). Male gender assignment increased from 55.3 (n = 62) to 77.7% (n = 87). The median PSAI score was similar to the control males in 5α-RD2, PAIS, and NR5A1 gene mutation groups (p > 0.05); while identical to the control females in complete androgen insensitivity syndrome (CAIS) and CYP17A1 gene mutation groups (p > 0.05). PSAI score of children raised as male was higher than those of CAIS and CYP17A1 groups raised as female (p < 0.05). CSRI scale showed no statistical differences in the consistency of gender roles and reassigned gender between 46, XY DSD patients and control groups (p > 0.05). None of the patients over 8-year-old (n = 44) had gender dysphoria.
The reassigned gender in 46, XY DSD patients is consistent with their gender role during early childhood. None of them had gender dysphoria. The molecular diagnosis, gonadal function, and the gender reassignment are congruent within our Chinese cohort. Long-term follow-up and more evaluation are still required.
Primary caregivers of children with type 1 diabetes mellitus (T1DM) are prone to negative emotions. This study explored the anxiety status of the caregivers and analyzed the related factors. In this ...prospective study, 245 primary caregivers of T1DM children who were reexamined in the outpatient clinic of Children’s Hospital affiliated to Zhengzhou University between April 2020 and Sep 2022 were surveyed with a questionnaire and the Hamilton Anxiety Rating Scale (HAMA). The detection rate of anxiety symptoms in T1DM primary caregivers was 21.2%, with a total score of HAMA score of 11.74 ± 2.50. There were significant differences between the anxiety and non-anxiety groups in treatment method, HbA1C to standard (≤7.0%), severe hypoglycemia in the last 1 year and the number of adolescent cases (χ2 = 15.798, p = 0.000; χ2 = 4.197, p = 0.040; χ2 = 5.291, p = 0.021; χ2 = 14.279, p = 0.000). Multivariable logistic regression analysis showed that insulin pump treatment, HbA1C to standard (≤7.0%) and adolescence were associated with anxiety in primary caregivers (OR = 4.040, 95%CI 1.969–8.289, p = 0.000; OR = 0.472, 95%CI 0.237–0.955, p = 0.037; OR = 2.952, 95%CI 1.495–5.831, p = 0.002). Pediatric endocrine care should pay more attention to the anxiety of the caregivers of adolescent T1DM children treated with insulin pumps while helping the children manage their disease.
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