RESUMEN

Background: Melanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1). Case presentation: We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in MC2R, presenting with skin hyperpigmentation, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients. Conclusions: We reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.

Asunto(s)

RESUMEN

OBJECTIVE: To analyze the nutritional status of primary school children in Furong District of Changsha from 2019 to 2020. METHODS: The physical examination data of students from 35 primary schools (grade 1-6) in Furong District of Changsha in Hunan Provincial People's Hospital from September 2019 to October 2020 were analyzed retrospectively. General information of all children was collected for statistical analysis of malnutrition among children of different gender and age groups. RESULT: The overnutrition rate was 32.73% in 2020. This was 7.42% higher than 25.31% in 2019. The undernourishment rate was 4.70% in 2020. This was 3.94% lower than 8.64% in 2019. In 2019 and 2022, the obesity and overweight rates of boys were higher than those of girls (both P < 0.05). The rates of growth retardation (0.36%, 0.37%) for boys were higher than those for girls (0.27%, 0.24%). The rates of mild wasting (4.31%, 2.36%) were lower than those for girls (4.00%, 2.39%) in 2020 and 2019. The rates of moderate and severe wasting (4.06%, 1.98%) were higher than those for girls (2.75%, 1.47%). In 2020, the undernourishment rate for boys decreased by 4.02% compared to 2019. The undernourishment rate for girls decreased by 2.91% compared to 2019. The growth retardation rate for boys increased by 0.01% compared to 2019. The growth retardation rate for girls decreased by 0.03% compared to 2019. The mild wasting rate for boys decreased by 1.95% as compared to 2019. The mild wasting rate for girls decreased by 1.61% as compared to 2019. The moderate to severe emaciation rate in boys was 2.08% lower in 2020 than in 2019 and 1.28% lower in girls than in 2019. The malnutrition rates of children aged 6-11 decreased by 4.20%, 4.85%, 3.83%, 9.45%, 6.65%, and 6.45% in 2020 compared with that of 2019. CONCLUSION: Compared to 2019, the primary school students in Furong District had abnormal nutritional status in 2020. It is necessary to strengthen the management of children's health care to ensure the healthy growth of children.

RESUMEN

INTRODUCTION: Due to functional defects and structural destruction after total laryngectomy, patients experienced the poor quality of life, especially for elderly. The barriers to accessing self-care in elderly patients were considered to result from complex and multifaceted interactions of biologic and social factors. Therefore, specific efforts to improve elderly patients' quality of life are needed. The purpose of our study is to verify nurse-led coaching of elderly patient self-care approaches, which can reduce logistic burden of patients and obtain the successful functional rehabilitation ultimately. METHODS AND ANALYSIS: Elderly patients (n=60) scheduled for total laryngectomy will be randomly divided into the intervention group and the control group. Patients in the control group received routinely nursing during hospitalisation and thereby at home after discharge received conventional family care without regular supervision of nurses. Patients in the intervention group will receive a series of self-care intervention based on the transtheoretical model during hospitalisation. During home after discharge, nurses will additionally evaluate and supervise the self-care effect of patients. The two groups of patients' self-care agency, self-efficacy, quality of life and nutritional status will be recorded separately at different time points. Primary outcome is the improvement of patients' self-care agency, and secondary outcome is the improvements of patients' self-efficacy, quality of life, nutritional states and 3-month unplanned readmission rate. ETHICS AND DISSEMINATION: The Ethics Committee of Hubei Cancer Hospital has approved this protocol (KYLLBA2020006). The findings of the trial will be disseminated through peer-reviewed journals, national or international conferences. TRIAL REGISTRATION NUMBER: ChiCTR2100043731.

Asunto(s)

RESUMEN

In recent years, children's and adolescents' growth and development issues have received increasing attention with the socioeconomic development. The etiology of child short stature involves heredity, race, sex, nutrition, and a variety of endocrine hormones, which is very complex. The age of 6∼14 is the key period of children's development. Understanding the height characteristics, the prevalence of short stature, and its influencing factors at this stage and formulating preventive measures as soon as possible are conducive to improving the average height of children and reducing the incidence of short stature. In this study, cluster sampling was used to select 56,865 children and adolescents aged 6∼14 years old from 40 primary and secondary schools in Furong District of Changsha City, and the height of each child and adolescent was measured. The results showed that the overall crude prevalence of short stature in children aged 6∼14 in Furong District of Changsha is 2.82%. Growth hormone level <10 µg/L, pubertal retardation, familial short stature, low egg intake, and intrauterine growth retardation are independent risk factors affecting the occurrence of short stature. In order to improve the status quo of short stature of children aged 6∼14 in Furong District, Changsha City, targeted intervention should be strengthened for people with combined high risk factors.

RESUMEN

OBJECTIVE: To study the association of Nod-like receptor protein 3 (NLRP3) inflammasome with inflammatory response in the acute stage and coronary artery lesion (CAL) in children with Kawasaki disease (KD). METHODS: A total of 42 children with KD who were hospitalized from January to October 2017 were enrolled as the KD group, among whom 9 had CAL (CAL group) and 33 had no CAL (NCAL group). Fifteen age- and gender-matched children with pneumonia and pyrexia were enrolled as the pneumonia-pyrexia group. Fifteen healthy children were enrolled as the healthy control group. Real-time PCR was used to measure the mRNA expression of NLRP3 inflammasome (NLRP3, ASC and caspase-1) in peripheral blood mononuclear cells. The Spearman rank correlation test was used to investigate the correlation of NLRP3 mRNA expression with serum levels of C-reactive protein, erythrocyte sedimentation rate, interleukin-6, interleukin-1ß, procalcitonin, albumin and prealbumin. RESULTS: The KD group had significantly higher mRNA expression of NLRP3, ASC and caspase-1 in the acute stage than the pneumonia-pyrexia and healthy control groups (P<0.05). The CAL group had significantly higher mRNA expression of NLRP3 than the NCAL group (P<0.05). NLRP3 mRNA expression was correlated with C-reactive protein, interleukin-6, interleukin-1ß, and prealbumin levels in children with KD in the acute stage (rs=0.449, 0.376, 0.427, and -0.416 respectively; P<0.05). CONCLUSIONS: NLRP3 inflammasome may participate in inflammatory response in the acute stage and the development of CAL in children with KD.

Asunto(s)

RESUMEN

INTRODUCTION: The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family. PATIENT CONCERNS: Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis. DIAGNOSIS: Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes insipidus. All the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulation hormone, adrenocorticotropic hormone, prolactin, and growth hormone in both patients were normal. These results were certified that both patients possess a nephropathy-type diabetes insipidus. B-mode ultrasonography and urinalysis test demonstrated that the patient's diabetes insipidus is unlikely to originate from renal organic disease. Remarkably, by nucleotide sequencing, we found a novel mutation c.414_418del in arginine-vasopressin receptor 2 (AVPR2) was related to the disease of NDI. INTERVENTIONS: Two patients were treated with oral hydrochlorothiazide and indomethacin. In addition, low salt diet and potassium supplementation throughout the patients' treatment. OUTCOMES: The clinical symptoms of 2 patients were significantly reduced after targeted therapy. CONCLUSION: A mutation in AVPR2 was discovered to be associated with NID. It provides a new target for molecular diagnosis of NDI, enabling families to undergo genetic counseling and obtain prenatal diagnoses.

Asunto(s)

RESUMEN

OBJECTIVE: To study the differences in quality of life and psychosocial function between children with short stature and children with normal stature. METHODS: The Pediatric Quality of Life Inventory (PedsQL) was used to survey 53 children aged 5-18 years who were diagnosed with short stature between June 2011 and June 2012, and their parents or guardians. Seventy-nine healthy children aged 4-17 years were selected as the control group. RESULTS: For PedsQL Child-Self Report, the children with short stature had a significantly higher total score than the control children (25.3±11.2 vs 21.1±10.3; P<0.05), and the former had significantly higher scores than the latter on the following items: It is hard for me to walk more than one block; It is hard for me to lift something heavy; I hurt or ache; I worry about what will happen to me; I cannot do things that other kids of my age can do; It is hard to keep up when I play with other kids; It is hard to pay attention in class; I forget things; I have trouble keeping up with my schoolwork (P<0.05). For PedsQL Parent-Proxy Report, the children with short stature had significantly higher scores than the control children on the following items: troubled sleeping; paying attention in class; keeping up with schoolwork; forgetting things (P<0.05). There was no significant difference in total score, however, between the two groups (P>0.05). CONCLUSIONS: Children with short stature have poorer development of psychosocial function than children with normal stature.

Asunto(s)