RESUMEN
The solute carrier family 12(SLC12)of cation-chloride cotransporters(CCCs)comprises potassium chlo-ride cotransporters(KCCs,e.g.KCC1,KCC2,KCC3,and KCC4)-mediated Cl-extrusion,and sodium po-tassium chloride cotransporters(N[K]CCs,NKCC1,NKCC2,and NCC)-mediated Cl-loading.The CCCs play vital roles in cell volume regulation and ion homeostasis.Gain-of-function or loss-of-function of these ion transporters can cause diseases in many tissues.In recent years,there have been considerable ad-vances in our understanding of CCCs'control mechanisms in cell volume regulations,with many tech-niques developed in studying the functions and activities of CCCs.Classic approaches to directly measure CCC activity involve assays that measure the transport of potassium substitutes through the CCCs.These techniques include the ammonium pulse technique,radioactive or nonradioactive rubidium ion uptake-assay,and thallium ion-uptake assay.CCCs'activity can also be indirectly observed by measuring y-aminobutyric acid(GABA)activity with patch-clamp electrophysiology and intracellular chloride con-centration with sensitive microelectrodes,radiotracer 36Cl-,and fluorescent dyes.Other techniques include directly looking at kinase regulatory sites phosphorylation,flame photometry,22Na+uptake assay,structural biology,molecular modeling,and high-throughput drug screening.This review sum-marizes the role of CCCs in genetic disorders and cell volume regulation,current methods applied in studying CCCs biology,and compounds developed that directly or indirectly target the CCCs for disease treatments.
RESUMEN
Objective:To compare anti-mullerian hormone (AMH) , sex hormone and inhibitor B (Inhibin B, INH-B) levels in children with different karyotypes, ages, and gender disorders of sex developmemt (DSD).Methods:A total of 101 patients with suspected gonadal dysplasia in children who underwent serological examination at the Children′s Hospital of Hunan Province from January 2019 to June 2019 were finally diagnosed by pathological biopsy. With reference to previous studies of the same type, the 101 patients included in this study were divided into 4 levels (<1 year old, 1-2 years old, 2-4 years old, >4 years old), and the social gender was divided into two levels: male and female. At the same time, 89 cases of normal gonadal development children without endocrine abnormality were selected as control. Serum levels of AMH, INH-B, luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), prolactin (PRL) and testosterone (T) were measured by chemiluminescence method.Results:Among the 101 cases, 62 were male and 39 were female; aged 23 days to 12 years, with a median age of 3.3 years; karyotype: 52 cases were 46, XX; 21 cases were 46, XY; 12 cases were 45, X; 7 cases were 46X, del (Xq); 5 cases were 46X, i (Xq); 2 cases were 45X, inv9; 2 cases were 45X / 46XX. There were 65 cases of partial gonadal dysplasia, 25 cases of disappearing testicular syndrome, and 11 cases of mixed gonadal dysplasia. One patient had a family history of infertility. Among the causes of children′s consultation, the most common were abnormal appearance of the external genitalia (54 cases, 53.47%), followed by small penile development and / or scrotal emptiness (25 cases, 24.75%). Other reasons included primary amenorrhea, double lateral groin mass, hypertension, clitoral hypertrophy, and labia minora adhesions. The levels of serum AMH, INH-B, and T in the gonadal dysplasia group were significantly higher than those in the normal gonadal development group, while the levels of LH, FSH, E2, and PRL were significantly lower than those in the normal gonadal development group ( P<0.05). The INH-B level of children with gonadal dysplasia in different age groups was statistically significant ( P<0.05), in which the INH-B level was the highest in <1-year-old children with gonadal dysplasia, and the lowest in 2-4-year-old children with gonadal dysplasia; the LH, FSH, E2, PRL, T levels of 46, XX and other karyotypes were statistically significant ( P<0.05); Compared with other age groups, the levels of LH, FSH, E2, and PRL were relatively higher in >4 year-old children with gonadal dysplasia, while the level of T was relatively lower; There were significant differences in E2, PRL and T levels in children with gonadal dysplasia in different age groups of 46, XY karyotype ( P<0.05). Compared with other age groups, E2, PRL and T levels of children with gonadal dysplasia >4 year-old old were relatively higher and T levels were relatively lower. The levels of AMH, LH, FSH, E2 and PRL in boys with glandular dysplasia were lower than those in girls ( P<0.05), while the levels of INH-B and T were higher in boys than those in girls ( P<0.05). Conclusions:The levels of anti-mullerian hormones, inhibin B, and sex hormones in children with gonadal dysplasia are different from the normal population, and may be related to the age, chromosome karyotype, and gender distribution of the child, but there are some confounding factors (such as etiology, treatment Scheme), so more samples are needed to verify it.
RESUMEN
Objective To investigate the changes in cortisol, adrenocorticotropic hormones (ACTH) in term infants with critical illness and to evaluate their functional status.Methods One hundred and fifty term infants who were transferred to the hospital within 72 hours after birth were involved (gestational age ≥ 37 weeks).These term infants were evaluated by neonatal critical illness scores (NCIS) at the time of admission, and they were divided into a mild group and a severe group according to the NCIS scores.Serum cortisol and ACTH concentrations were measured at the time of admission on day 7 and day 14 after birth.Results (1) Within 72 hours after birth, the basic serum cortisol concentration of severe illness infants [(283.5 ± 196.0) μg/L] was significantly higher than that of the infants with mild illness[(175.0 ± 186.5) μg/L], and there was a significant difference (t =-3.830, P =0.000).The basic serum cortisol concentration of the term infants with severe illness was higher than that of the term infants with mild illness,but there was no significant difference[7 d:(94.1 ±41.3) μg/L vs (62.5 ±37.9) μg/L,14 d:(68.6 ±47.7)μg/L vs (50.9 ± 38.4) μg/L, all P ＞ 0.05].(2) Among the infants with critical illness, the basic serum cortisol concentration within 72 hours after birth was significantly higher than those of day 7 and day 14 after birth (t--5.994, 2.848;P =0.000,0.036).(3) Among the mild infants, the basic serum cortisol concentration within 72 hours after birth was significantly higher than those of day 7 and day 14 after birth (t =4.691,3.076;P =0.000,0.037).(4) The basic serum ACTH concentrations had no significant difference between the severe group and the mild group[≤72 h: (101.55±61.52) ng/Lvs (85.54±59.83) ng/L,7 d:(54.91±22.75) ng/Lvs (71.07±20.51) ng/L,14 d: (44.67 ± 28.30) ng/L vs (44.92 ± 24.68) ng/L, all P ＞ 0.05].(5) The serum cortisol and ACTH concentration within 72 hours after birth of the dead infants[(351.9 ± 179.7) μg/L, (215.5 ± 165.9) ng/L] were significantly higher than those of the survivors [(201.4 ± 161.4) μg/L, (83.5 ± 54.0) ng/L], and there were significant differences(t =-2.547,-3.833;P =0.012,0.000).(6) The basic serum cortisol concentration within 72 hours after birth had a negative correlation with NCIS(r =-0.293, P =0.043), pH (r =-0.336, P =0.000) and base excess (BE) (r =-0.261 ,P =0.002);but it had a positive correlation with ACTH concentration within 72 hours after birth (r =0.443 ,P =0.000).The serum basic ACTH within 72 hours after birth had a negative correlation with BE (r =-0.181 ,P =0.031) ,and had positive correlation with the basic serum cortisol concentration within 72 hours and day 7 (r =0.443,0.268;P =0.000,0.048).Conclusions The term infants have the ability to response to external stimuli by regulating cortisol secretion.The basic serum cortisol concentration of term infants is related to the critical illness.The worse the condition is,the higher the base serum cortisol concentration is.
RESUMEN
Objective To assess the value of CMV viral load test in the diagnosis and prognostic judgment of infantile cytomegalovirus infection with whole blood and urine specimens. Methods 50 infants with active CMV infection were selected, which pp65 antigen was positive in serological detection and either CMV-IgM positive or the titer of CMV-IgG ≥40. The viral load in whole blood and urine specimens was detected before and after a course of preemptive ganciclovir treatment and the pp65 antigen was determined after treatment. Results 98% patients were manifested as cytomegalovirus viral load quantitative measurement in whole blood positive before the treatment, while 14% after. The positive ratio of pp65 assay after therapy was 6%. And there was no significant difference between the results of the two kinds of detection methods measurement in urine before and after treatment was 98% and 90%, respectively. The results of urinary viral load quantitative detection did not coincide with clinical characteristics of CMV infection (P＜0.05,Sp＝0.11,PVP＝0.55, (Youden's index)＝0.09). Conclusions Good coincidence could be found between CMV-DNA quantitative measurement in whole blood and pp65 antigenemia assay. And the former could be used as a diagnostic index of CMV positive infection. While single urinary viral load quantitative detection had no significance for the distinction between active and latent CMV infection and dynamic monitoring of CMV treatment.
RESUMEN
Objective To investigate the effect of illness severity on preterm infant's hypothalamusputituary-adrenal (HPA) axis, we measured the serum concentration of cortisol,aldosterone and adrenocorticotropic hormone (ACTH). Methods Ninety preterm infants who were transferred to our hospital within 72 hours after birth were involved. These preterm infants were divided into two groups:gestational age (GA) ≥34 weeks' preterm infants and GA <34 weeks' preterm infants. We evaluated these preterm infants at the time of admission,day 7 and day 14 after birth with neonatal critical illness score (NCIS). Then they were divided into mild group and severe group by the lowest score. We measured their serum cortisol,aldosterone and ACTH at the time of admission,day 7 and day l4 after birth. Results (1) The serum cortisol concentration of preterm infants with severe illness was higher than that of preterm infants with mild illness. Among the GA ≥34 weeks' preterm infants,the serum cortisol concentration of preterm infants with severe illness was significandy higher than that of preterm infants with mild illness within 72 hours after birth (t = -2.263,P =0. 029). Among the GA <34 weeks' preterm infants,the serum cortisol concentration of preterm infants with severe illness was significantly higher than that of preterm infants with mild illness on day 14 after birth (t =-2. 913 ,P =0. 006). (2) Among the preterm infants with severe illness,the serum cortisol concentration of the GA≥34 weeks' was significantly higher than that of the GA < 34 weeks' within 72 hours after birth (t =-2. 641 ,P =0. 010) ;the serum cortisol concentration of the GA <34 weeks' was significantly higher than that of the GA≥34 weeks' on the day 14 after birth(t = -2. 189,P =0. 036) . (3) The serum cortisol concentration was significantly decreased in the GA≥34 weeks'preterm infants (F = 4. 679, P =0. 012). (4) The serum cortisol concentration of aldosterone and ACTH was not significantly different between preterm infants with severe illness and those with mild illness. Conclusion The preterm infant already has the ability to respond to stimuli by regulating cortisol secretion. The serum cortisol concentration increases as disease severity worsens.Serum aldosterone and ACTH concentration are not correlated with the severity of the disease.