IgA nephropathy in a child with X-linked agammaglobulinemia: a case report.

BACKGROUND: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases. However, renal involvement are rare in cases of XLA. CASE PRESENTATION: In this report, we discussed a specific case involving a 6-year-old boy with XLA who experienced recurrent upper respiratory tract infections since the age of one. He presented with symptoms of hematuria and proteinuria, and renal pathology confirmed the presence of immunoglobulin (Ig) A nephropathy. Treatment comprised glucocorticoids, mycophenolate mofetil, and intermittent intravenous immunoglobulin replacement therapy. Consequently, there was a remission of proteinuria and a partial improvement in hematuria. CONCLUSIONS: In this study, we describe the first case of IgA nephropathy associated with XLA. This is an interesting phenotype found in XLA, and it provides valuable insights into the process of autoimmunity and the regulation of immune function in individuals with XLA. Based on our findings, we recommend the evaluation of immunoglobulin levels in patients diagnosed with IgA nephropathy.

Clinical outcomes of short rod technique in posterior lumbar interbody fusion surgery: a minimum of 2-year follow-up.

PURPOSE: We present for the first time a novel entry point of pedicle screws (Short Rod Technique, SRT), which can avoid superior facet violation and has been verified as a safe screw placement method. The purpose of this study is to determine the clinical outcomes of SRT in posterior lumbar interbody fusion (PLIF) surgery. METHODS: We retrospectively analyzed the clinical outcomes of 89 patients who received SRT and 109 patients who received PLIF surgery with regular entry points of pedicle screws with a minimum of 2 years of follow-ups. Patients were divided into three groups according to the number of fusion segments, and the clinical outcomes of the three groups were compared. RESULTS: The length of the wound and the length of rods were significantly shorter in the each SRT group. Less intraoperative blood loss was observed in the SRT group in patients with a single segment and two segments fusions, but not in three segments fusions. Fewer degenerations of the upper adjacent segment were observed in the SRT group in patients with a single segment and three segments fusions. In addition, less postoperative wound pain related to PLIF surgery was observed in the SRT group in patients with two and three segments fusions. CONCLUSION: SRT has been validated as an effective technique with good clinical outcomes, especially for reducing the occurrence of upper ASD in PLIF surgery with a single segment and three segments. The present study provides spinal surgeons with a novel method for performing PLIF surgery.

Surgical management and outcomes of spinal metastasis of malignant adrenal tumor: A retrospective study of six cases and literature review.

Purpose: Spinal metastasis of malignant adrenal tumor (SMMAT) is an extremely rare and poorly understood malignant tumor originating from the adrenal gland. The objective of this study is to elucidate the clinical characteristics and discuss surgical management and outcomes of SMMAT. Methods: Included in this study were six SMMAT patients who received surgical treatment in our center between February 2013 and May 2022. Their clinical data and outcomes were retrospectively analyzed to gain a better understanding of SMMAT. In addition, ten cases from the literature focusing on SMMAT were also reviewed. Results: Surgery was performed successfully, and the associated symptoms were relieved significantly in all patients postoperatively. The mean follow-up duration was 26.2 (range 3-55) months. Two patients died of tumor recurrence 12 and 48 months after operation respectively. The other four patients were alive at the last follow-up. Conclusions: The prognosis of SMMAT is usually poor. Preoperative embolization and early surgical radical resection can offer satisfactory clinical outcomes. The patient's health status, preoperative neurological function, tumor location and the resection mode are potential prognostic factors of SMMAT.

Circadian Rhythm Analysis Using Wearable Device Data: Novel Penalized Machine Learning Approach.

BACKGROUND: Wearable devices have been widely used in clinical studies to study daily activity patterns, but the analysis remains a major obstacle for researchers. OBJECTIVE: This study proposes a novel method to characterize sleep-activity rhythms using actigraphy and further use it to describe early childhood daily rhythm formation and examine its association with physical development. METHODS: We developed a machine learning-based Penalized Multiband Learning (PML) algorithm to sequentially infer dominant periodicities based on the Fast Fourier Transform (FFT) algorithm and further characterize daily rhythms. We implemented and applied the algorithm to Actiwatch data collected from a cohort of 262 healthy infants at ages 6, 12, 18, and 24 months, with 159, 101, 111, and 141 participants at each time point, respectively. Autocorrelation analysis and Fisher test in harmonic analysis with Bonferroni correction were applied for comparison with the PML. The association between activity rhythm features and early childhood motor development, assessed using the Peabody Developmental Motor Scales-Second Edition (PDMS-2), was studied through linear regression analysis. RESULTS: The PML results showed that 1-day periodicity was most dominant at 6 and 12 months, whereas one-day, one-third-day, and half-day periodicities were most dominant at 18 and 24 months. These periodicities were all significant in the Fisher test, with one-fourth-day periodicity also significant at 12 months. Autocorrelation effectively detected 1-day periodicity but not the other periodicities. At 6 months, PDMS-2 was associated with the assessment seasons. At 12 months, PDMS-2 was associated with the assessment seasons and FFT signals at one-third-day periodicity (P<.001) and half-day periodicity (P=.04), respectively. In particular, the subcategories of stationary, locomotion, and gross motor were associated with the FFT signals at one-third-day periodicity (P<.001). CONCLUSIONS: The proposed PML algorithm can effectively conduct circadian rhythm analysis using time-series wearable device data. The application of the method effectively characterized sleep-wake rhythm development and identified the association between daily rhythm formation and motor development during early childhood.

Cohort Profile: The Shanghai Sleep Birth Cohort Study.

BACKGROUND: Sleep disturbances in women occur frequently throughout pregnancy. Previous studies have demonstrated that the increasing incidence of physiological and psychological illness is concurrent with increasing sleep deprivation and poor sleep quality in adults and children. OBJECTIVES: The Shanghai Sleep Birth Cohort Study (SSBCS) was established to examine the effect of sleep disturbances during the third trimester on emotional regulation of mothers; to assess the effect of maternal sleep during pregnancy on the growth and development of children; and to explore the influence of children's sleep characteristics on physical and social-emotional development. POPULATION: The study was conducted in the Renji Hospital in Pudong New District, Shanghai from May 2012 to July 2013. Women and their newborns who met the inclusion criteria and agreed to participate in this study were recruited to the SSBCS. METHODS: The follow-up visits for children were conducted at the age of 42 days, 3, 6, 9, 12, 18, and 24 months, and 3, 4, and 6 years. Data on demographic factors, physical examination, sleep assessment, developmental and psychiatric assessment, diet records, and biological samples were collected throughout the study. PRELIMINARY RESULTS: A total of 277 pregnant women were recruited to the study; the response rate was 64.3%. 37.9% of the pregnant women had poor sleep quality and 12.0% suffered from depression. Infant sleep patterns changed during the first year of life, but most sleep characteristics showed little variation from 6 to 12 months. CONCLUSIONS: The SSBCS is an on-going prospective cohort study with follow-up to 6 years. The detailed data on demographic factors, sleep assessment, physical examinations, neurodevelopmental and psychiatric assessment, diet records, and biological samples make this research platform an important resource for examining the potential effects of sleep characteristics on both maternal and child health.

Effect of maternal sleep in late pregnancy on leptin and lipid levels in umbilical cord blood.

OBJECTIVES: To study the impact of maternal sleep in late pregnancy on birth weight (BW) and leptin and lipid levels in umbilical cord blood. STUDY DESIGN: A total of 277 healthy and singleton pregnancy women were recruited for participation in the Shanghai Sleep Birth Cohort Study (SSBC) during their 36-38 weeks of pregnancy, from May 2012 to July 2013. Maternal night sleep time (NST), sleep efficiency (SE), sleep onset latency (SOL) and the percentage of wake after sleep onset (WASO) in NST and midpoint of sleep (MSF) were measured by actigraphy for seven consecutive days. The leptin and lipid levels were determined in cord blood samples collected from the umbilical vein immediately after delivery. Birth information (birth weight, gender, delivery type, etc.) was extracted from medical records. A multivariable linear regression model was applied to examine the effect of maternal sleep in late pregnancy on newborn leptin and lipid levels in umbilical cord blood. RESULTS: A total of 177 women and their infants were included in the analysis. Maternal mean NST was 7.03 ± 1.10 h in late pregnancy, and 48% had a shorter sleep time (NST < 7 h). The average maternal SE was 72.54% ± 9.66%. The mean percentage WASO/NST was 21.62% ± 9.98%; the average MSF was about 3:34 (0:53); and the SOL was 46.78 ± 36.00 min. After adjustment for confounders, both maternal NST and SE were found to be significantly associated with triglyceride levels (ß = -0.219, p = 0.006; ß = -0.224, p = 0.006) in umbilical cord blood; and maternal NST was also observed to have positive association with newborn leptin levels (ß = 0.146, p = 0.047). However, we did not find significant association between other maternal sleep parameters in late pregnancy and leptin and lipid levels and birth weight. CONCLUSIONS: Short sleep duration and poor sleep quality during late pregnancy were associated with newborn leptin and lipid levels, and efforts on improving maternal sleep during late pregnancy should be advocated for children's health.

Early language and communication development in Chinese children: Adaption and validation of a parent report instrument.

PURPOSE: To fulfil the needs of assessment tools in the Chinese population, we adapted the LENA Developmental Snapshot, a parent survey that measures early language and communication development in English-speaking children. We reported the psychometric properties of the adapted questionnaire and evaluated the metric and functional equivalence between the adapted and the original instruments. METHOD: The Snapshot was translated into Chinese and reviewed by an expert panel. English-specific items (e.g. past tense, plural) were mapped onto functionally similar Mandarin vocabulary and structures. The questionnaire was administered to 1300 families with children ages 2-48 months. The Bayley Scales of Infant Development was administered to a subsample. RESULT: Scores on the adapted questionnaire showed age-related increases in the 7-36 month age range and correlated with scores on the Chinese Bayley. The questionnaire showed high internal consistency and split-half reliability. Comparison with the US norm revealed slightly lower performance in the current sample. Adaptations of English-specific items resulted in functionally equivalent targets. CONCLUSION: Despite differences in linguistic roots, the Chinese adaption of the LENA Snapshot captured developmental changes in children's language and communication abilities. Additional norming and validation efforts are needed in a more representative sample.

The association between 25-hydroxyvitamin D levels and children's sleep-wake patterns: a prospective cohort study.

OBJECTIVE: To explore the association between vitamin D in cord blood or in venous blood and children's sleep-wake patterns at two years of age. METHODS: Data were from 209 children in a birth cohort, Shanghai Sleep Birth Cohort Study (SSBC). 25-Hydroxyvitamin D (25(OH)D) was assessed in cord blood and venous blood samples at two years of age by electrochemiluminescence immunoassay. Children's sleep-wake patterns were measured with the Brief Infant Sleep Questionnaire (BISQ) and Acti-Watch at two years of age. RESULTS: The prevalence of vitamin D deficiency (defined as <50 nmol/L) was 50.4% in cord blood and 28% at two years of age. The cord blood 25(OH)D level was not significantly associated with children's sleep at two years of age. Children with 25(OH)D deficiency at two years old had shorter reported and actigraphic night sleep duration (NSD) and total sleep duration (TSD) than those with normal 25(OH)D concentration. 25(OH)D level at two years old was positively associated with night and total sleep duration (ßreported-NSD = 0.6, p = 0.011; ßreported-TSD = 0.6, p = 0.029; ßactigraphic-NSD = 0.82, p = 0.003; ßactigraphic-TSD = 0.78, p = 0.006), but was not associated with daytime sleep duration. There was no significant association between 25(OH)D level with night waking duration and midpoint of sleep either measured subjectively or objectively. CONCLUSION: We found that not cord blood 25(OH)D level but two-year-old 25(OH)D level was associated with children's sleep-wake patterns at two years of age. These findings suggest more attention should be paid to the assessment of 25(OH)D levels in children with short sleep duration.

Trajectories of sleep quality from late pregnancy to 36 months postpartum and association with maternal mood disturbances: a longitudinal and prospective cohort study.

Study Objectives: To examine trajectories of poor sleep quality from late pregnancy to 36 months postpartum, baseline indicators, and association with prospective maternal mood disturbances. Methods: A cohort of 262 nonclinical women was followed at late pregnancy, 42 days, 3, 6, 9, 12, 18, 24, and 36 months postpartum. Sleep quality was measured with the Pittsburgh Sleep Quality Index at all time points, and mood disturbances were assessed at late pregnancy and 36 months postpartum. Results: The rate of poor sleep quality followed an inverted U-shaped curve. Women reporting poor sleep quality at late pregnancy held a consistently higher risk of poor sleep quality at postpartum points. Three sleep trajectories were distinguished, namely, the stable-low (29.4%), the decreasing-mild (56.5%), and the stable-high (14.1%). Poor sleep quality, depression, and anxiety at baseline were linked to trajectory groups with poorer sleep quality. Adjusting for covariates, the trajectory of the poorer sleep quality group demonstrated increased mood disturbances at 36 months postpartum. Replicating the analyses in women without baseline symptoms of depression and anxiety above clinical cutoffs obtained similar results. Conclusions: Women are vulnerable to poor sleep quality from late pregnancy to postpartum years, but follow distinct trajectories. Poor sleep quality, depression, and anxiety at late pregnancy help us to anticipate the sleep trajectories. Trajectories of poor sleep quality indicate increased mood disturbances at 36 months postpartum. A flexible suite of interventions targeting both poor sleep quality and mood disturbances should be implemented and tailored to women in the prenatal and postpartum periods.

Association between Dietary Patterns and Precocious Puberty in Children: A Population-Based Study.

OBJECTIVE: The aim of the present study was to investigate the association between dietary patterns and precocious puberty among Shanghai children. METHODS: A cross-sectional study was conducted among Shanghai children by multistage stratified cluster random sampling in June 2014. Diet was assessed using a simplified food frequency questionnaire (FFQ). Height, weight, and Tanner stages of breast development, pubic hair growth, and testicular volume were carefully measured. Exploratory factor analysis was used to identify dietary patterns, and logistic regression analysis was used to assess the association between dietary patterns and precocious puberty. RESULTS: Three distinct dietary patterns, "traditional diet," "unhealthy diet," and "protein diet," were established. Neither the "traditional diet" pattern nor the "protein diet" pattern showed any association with precocious puberty, taking gender, BMI, and adjustment factors into consideration. The "unhealthy diet" pattern was significantly positively associated with precocious puberty in both boys (OR = 1.24, 95% CI = 1.02-1.51) and girls (OR = 1.31, 95% CI = 1.10-1.56). The relationship remained positive only for girls (OR = 1.25, 95% CI = 1.04-1.49) after adjustment for age and BMI but statistically nonsignificant after further adjustment for socioeconomic factors in both boys and girls. CONCLUSIONS: Dietary patterns were found to be related to precocious puberty among Shanghai children.

Investigating the relationship between precocious puberty and obesity: a cross-sectional study in Shanghai, China.

OBJECTIVES: Obesity is reported to be closely relevant to early sexual development but the relationship between sexual precocity and obesity or central obesity is still inconsistent, especially in boys. We aimed to investigate the relationship between precocious puberty and obesity as well as central obesity. DESIGN: A large population-based cross-sectional study using multistage, stratified cluster random sampling. SETTING: Data from the Shanghai Children's Health, Education and Lifestyle Evaluation (SCHEDULE) study in June 2014. PARTICIPANTS: 17 620 Chinese children aged 6-12 years. PRIMARY AND SECONDARY OUTCOME MEASURES: Obesity was defined by WHO Child Growth Standards. Central obesity was defined by sex-specific waist-to-height ratio (WHtR) cut-offs (WHtR ≥0.48 for boys, WHtR ≥0.46 for girls). Precocious puberty was identified by Tanner stage of breast, pubic hair and testicle development. A χ2 test was performed to compare rates. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association between precocious puberty and general obesity and central obesity. Probit analysis was used for estimating the median age at entry into Tanner stage 2 or greater for breast, pubic hair and testicle development. Linear regression was utilised to compare the effects of WHtR and body mass index (BMI) on sex development indicators. RESULTS: 25.98% and 38.58% of boys with precocious puberty were respectively accompanied by obesity (OR=2.15, 95% CI=1.31 to 3.50) or central obesity (OR=2.10, 95% CI=1.46 to 3.03); meanwhile, 13.86% and 29.42% of girls with precocious puberty were respectively accompanied by obesity (OR=9.00, 95% CI=5.60 to 14.46) or central obesity (OR=5.40, 95% CI=4.10 to 7.12). The median ages of breast, pubic hair and testicle development decreased with BMI increase and median ages of thelarche and testicular development rather than pubarche were earlier in children with central obesity. CONCLUSIONS: Earlier pubertal development was positively associated with obesity and central obesity in Chinese children.

Six-month-old infant long sleepers prefer a human face.

BACKGROUND: Sleep is known to influence socio-emotional regulation among children and preschoolers, whereas little is known about the association between sleep and social preference during infancy. METHODS: In the current study, habitual sleep of 49 infants aged around six months old were surveyed by questionnaire, and their social preference was revealed by their preferential gaze in three conditions: (1) a human face paired with an object (ie, a cup), (2) a human face paired with an animal face (ie, a dog), and (3) a dog face paired with a cup. RESULTS: In general, images with richer social information (ie, a human face and dog) attracted infants' gaze significantly more than nonsocial images (ie, cup). Infants with shorter sleep duration (ie, <13 h a day) show a significant reduction in their preference toward a human face when paired with a dog than infants with longer sleep duration. CONCLUSIONS: Our findings suggest an early positive link between sleep duration and preference towards socially rich stimuli (eg, a human face) during infancy.

Relationship between Duration of Sleep and Hypertension in Adults: A Meta-Analysis.

OBJECTIVES: Epidemiologic studies have shown that chronic short sleep may be associated with the development of hypertension; however, the results are controversial. This meta-analysis was conducted to determine whether the duration of sleep is associated with hypertension. METHODS: Reference databases (PubMed, EmBase, the Cochrane Library, Chinese Biological Medicine database) were searched for studies related to sleep duration and hypertension. Sleep duration categories (≤ 5 h, 6 h, 7 h, 8 h, ≥ 9 h) and prevalence or incidence of hypertension in each sleep category were extracted. A general analysis and subgroup analyses stratified by gender, age, study design, and different definitions of sleep duration were conducted to evaluate the relationship between sleep duration and hypertension. RESULTS: Thirteen articles out of a total of 1,628 articles involving 347,759 participants met the inclusion criteria. A U-shaped change in pooled odds ratios (ORs) for hypertension due to the change of sleep duration was observed. The unadjusted OR for hypertension of individuals who slept ≤ 5 h vs. 7 h was 1.61, 95% CI = 1.28-2.02; those who slept ≥ 9 h vs. 7 h was 1.29, 95% CI = 0.97-1.71. The pooled ORs were still significant after adjusted by age and gender. Women deprived of sleep (sleep time ≤ 5 h vs. 7 h, OR = 1.68, 95% CI = 1.39-2.03) had a higher risk of hypertension than men (OR = 1.30, 95% CI = 0.93-1.83). CONCLUSION: Excessively longer and shorter periods of sleep may both be risk factors for high blood pressure; these associations are stronger in women than men.

[Multi-center study on the effects of television viewing on sleep quality among children under 4 years of age in China].

OBJECTIVE: To explore the current television viewing situation among children less than 4 years of age in our country and investigate effects of television viewing on sleep quality. METHOD: According to the"Hospital of Province-City-County"sampling technical route, a total of 1 046 full term healthy children at the age of 4-48 months were sampled by stratified cluster random sampling method from 8 provinces in China from 2012-2013. The information of television viewing and family and personal information was investigated by Shanghai Children's Medical Center Socio-demographic Questionnaire. Brief Infant Sleep Questionnaire (BISQ) and Brief Child Sleep Questionnaire (BCSQ) were employed to assess the sleep behaviors of children 0-3 years old and over 3 years old respectively.The effects of television viewing on sleep quality were analyzed by multiple linear regression analysis. RESULT: The children's average age was (20±13) months, with boys accounted for 53.3% (558/1 046). The percentage of children who viewed television was 70.3% (735/1 046). Moreover, 58.7% (408/695) of infants and young children under the age of 2 viewed TV per day, and 19.9% (70/351) of 2 years and older infants and young children viewed television ≥2 hours per day. With the increase of age, the percentage of children who viewed television time gradually increased (P<0.001). Child sex, geographic area, paternal education, and family structure were not associated with television viewing time among children aged 4-48 months. However, the presence of a bedroom TV(χ(2)=13.682, P=0.001) and maternal employment (χ(2)=15.053, P=0.005) were commonly correlated with long screen-watching time among children. After adjusting for age, gender, mother' education level, and working state, it was revealed by multiple linear regression analysis that television viewing was not only positively correlated with later bedtime (t=5.49, P<0.001) and shorter night sleep duration (t=-3.49, P=0.001) but also significantly associated with longer sleep onset latency (t=2.63, P=0.009). CONCLUSION: The percentage of children under 4 years of age who viewed television is very high in our country, and many infants under 6 months of age exposed to TV environment. Bedroom TV and mother full-time job were associated with higher proportion of children viewing TV. In early childhood, television viewing was positively correlated with later bedtime, shorter sleep duration and longer sleep onset latency. There is a need for parents and pediatricians to pay more attention to the behavior of children viewing TV and improve sleep quality.

[Multi-center study of premature thelarche and gynecomastia in Chinese infants and toddlers].

OBJECTIVE: The term "premature thelarche" refers to isolated breast development before 8 years of age in female, without any other signs of sexual maturation, while "gynecomastia" is the presence of breast tissue in males. This study aimed to investigate the prevalence of premature thelarche and gynecomastia in Chinese infants and toddlers, identify the potential risk factors, and explore the influence of early breast development on physical growth, mental development and psychomotor development. METHOD: A total of 1 510 full term and healthy children at the age of 0-48 months were sampled by stratified cluster random sampling method from 8 provinces from 2011-2012. Weight, height and breast development were assessed by senior primary pediatricians, while Bayley Scale of Infant Development-I (BSID-I) was used to measure the mental developmental index (MDI) and psychomotor developmental index (PDI) for children aged 2-30 months. Social-demographic Questionnaires were completed by the caregivers. RESULT: The combined prevalence of premature thelarche and gynecomastia was 1.6% (23/1 475), girls 2.2% (15/695), boys 1.0% (8/780), all within 2 years of age. The birth weight, feeding patterns in first 4 months, delivery mode, weaning time and social economic status were not significantly associated with the breast development. However, lower father's education level (OR = 3.632, 95%CI = 1.565-8.432) as well as smoking mother (OR = 18.960, 95%CI = 1.590-226.304) were significantly related to breast development even after adjusting for potential confounders. Lower weight (-0.479 ± 0.648 vs. 0.005 ± 0.987, P < 0.05) and height (-0.602 ± 1.042 vs. 0.008 ± 0.986, P < 0.05) Z score were found in breast development group, even after adjusting for age, gender and father' education level. Neither mental development (t = -0.082, P > 0.05) nor psychomotor development (t = 1.054, P > 0.05) was associated with breast development. CONCLUSION: We showed a similar prevalence of premature thelarche with the data reported in similar studies reported from other countries. Among the 0-48 months old infants and toddlers, Father's education level and smoking mother were both related to breast development. Breast development was significantly associated with physical growth, but had no correlation with the mental or psychomotor development.