A 4-year-old female with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, with a pathogenic variant of the NSDHL gene, c.130G>A (p.Gly44Ser), and unilateral right-sided erythematous verrucous plaques with scaling and ipsilateral limb defects, was started on 5% simvastatin ointment. It was applied twice daily for four months, with improvement already seen starting week 2. Monotherapy with 5% simvastatin ointment was able to decrease the thickness of the verrucous plaques seen in our patient, highlighting that the accumulation of toxic metabolites may play a more crucial role in its disease pathogenesis.

Netherton Syndrome (NS) is characterized by a triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis. Diagnosis of NS poses a challenge due to its variable presentation and overlap with other dermatological conditions. Herein, we report a case of NS in a sibling pair, underscoring the challenges in diagnosis and genetic implications of this condition.

We present a case of an 8-year-old female and a 7-year-old male sibling pair, with Netherton Syndrome, who initially presented with atopic dermatitis and erythroderma without hair shaft abnormalities. Further investigation and genetic testing revealed homogeneous SPINK5 gene mutations in both patients, leading to the diagnosis of NS.

Early recognition and diagnosis of Netherton Syndrome are essential for proper management. In patients with early-onset atopic dermatitis resistant to treatment and recurrent erythroderma, further investigation is needed to exclude other diagnoses like Netherton Syndrome.

Proteus syndrome (PS) is a mosaic disorder characterized by asymmetric overgrowth of a variety of tissues. Diagnostic criteria established in 1999 emphasized the mosaic distribution of lesions, progressive course, and disproportionate overgrowth. We present a case of proteus syndrome in a 12-year-old Filipino male with 9 year-history of enlargement of the left foot with soft, non-tender mass on the sole with a brain-like surface. Skin punch biopsy of the mass showed cerebriform connective tissue nevi which is pathognomonic of PS.

PS is a very rare disease with prevalence of less than 1 in 1,000,000 live births. Management of PS is extremely challenging, owing to the combination of the individuality of each case, the severity of the disease, and the risks of complications from procedures. A multidisciplinary clinical approach is strongly recommended to obtain the best possible management plans for individual patients.

To explore the relationship between the early or delayed age at natural menopause and metabolic syndrome (MS) in women. A total of 4 734 natural menopausal women who completed the baseline survey from November 2017 to January 2020 in the Guangzhou Middle-aged and Elderly Chronic Disease Prospective Cohort Study were selected in this cross-sectional study. Data on general demographic characteristics, disease history and female physiological health indicators were collected. Logistic regression model and restricted cubic spline curve were used to analyze the relationship between the age at natural menopause and MS. The results showed that the mean age of the subjects was (60±6) years old. The median (Q₁,Q₃) age at natural menopause was 50 (49, 52) years old, and the prevalence of MS was 14.8%(699/4 734). After adjusting for confounders, the age at natural menopause was closely related to MS in an approximate"U"shape. Compared with the group of normal age at natural menopause, the early age at menopause (OR=1.52, 95%CI: 1.12-2.06) and delayed age at menopause (OR=1.77, 95%CI: 1.36-2.30) had a higher risk of MS. In the group with time since menopause ≤6 years and 7-9 years, the risk of MS in the group with delayed age at menopause was 2.40 times (95%CI: 1.54-3.75) and 2.19 times (95%CI: 1.11-4.31) higher than that in the group with normal menopausal age, respectively. In conclusion, the early and delayed age at natural menopause increased the risk of MS. The increased risk of MS in delayed age at natural menopause mainly occurred within 10 years since menopause.
Middle Aged ; Aged ; Female ; Humans ; Child ; Postmenopause ; Metabolic Syndrome/epidemiology* ; Prospective Studies ; Cross-Sectional Studies ; Menopause/physiology* ; Risk Factors

To introduce the clinical experience of professor SUN Shen-tian in treatment of Tourette's syndrome (TS) with acupuncture. TS is a psychosomatic disease and the core pathogenesis refers to blood deficiency producing internal wind. The disease is located in the heart and liver. Acupoints are selected according to the functional orientation of the cerebral cortex. The extrapyramidal system area is preferred for tic disorder, and the emotional area is for behavioral disorder. The treatment focuses on regulating the mind by multiple methods, including manual needling technique used the transcranial repeated acupuncture, and regulating the mind by taking multiple acupoints, Baihui (GV 20), Neiguan (PC 6), Shenmen (HT 7) and Dazhong (KI 4) are stimulated. For abdominal twitching and mental symptoms of TS children, the first and third abdominal areas are selected. The target symptoms (biao) are treated specially by local acupoints, the combination of the starting and ending acupoints of the affected meridian, or the acupoints of the meridians with same name. The modified chaihu longgu muli decoction and siwu decoction are prescribed to sooth liver, nourish blood and soothe wind. In association with the characteristics and target symptoms of TS, the sequential therapy is used with filiform needling, intradermal needling, Chinese herbal medication and psychotherapy.
Child ; Humans ; Tourette Syndrome ; Acupuncture Therapy ; Meridians ; Liver ; Psychotherapy

Humans ; Child ; Klinefelter Syndrome/complications* ; Lupus Erythematosus, Systemic/complications*

Objective: To identify the risk factors in mortality of pediatric acute respiratory distress syndrome (PARDS) in pediatric intensive care unit (PICU). Methods: Second analysis of the data collected in the "efficacy of pulmonary surfactant (PS) in the treatment of children with moderate to severe PARDS" program. Retrospective case summary of the risk factors of mortality of children with moderate to severe PARDS who admitted in 14 participating tertiary PICU between December 2016 to December 2021. Differences in general condition, underlying diseases, oxygenation index, and mechanical ventilation were compared after the group was divided by survival at PICU discharge. When comparing between groups, the Mann-Whitney U test was used for measurement data, and the chi-square test was used for counting data. Receiver Operating Characteristic (ROC) curves were used to assess the accuracy of oxygen index (OI) in predicting mortality. Multivariate Logistic regression analysis was used to identify the risk factors for mortality. Results: Among 101 children with moderate to severe PARDS, 63 (62.4%) were males, 38 (37.6%) were females, aged (12±8) months. There were 23 cases in the non-survival group and 78 cases in the survival group. The combined rates of underlying diseases (52.2% (12/23) vs. 29.5% (23/78), χ²=4.04, P=0.045) and immune deficiency (30.4% (7/23) vs. 11.5% (9/78), χ²=4.76, P=0.029) in non-survival patients were significantly higher than those in survival patients, while the use of pulmonary surfactant (PS) was significantly lower (8.7% (2/23) vs. 41.0% (32/78), χ²=8.31, P=0.004). No significant differences existed in age, sex, pediatric critical illness score, etiology of PARDS, mechanical ventilation mode and fluid balance within 72 h (all P>0.05). OI on the first day (11.9(8.3, 17.1) vs.15.5(11.7, 23.0)), the second day (10.1(7.6, 16.6) vs.14.8(9.3, 26.2)) and the third day (9.2(6.6, 16.6) vs. 16.7(11.2, 31.4)) after PARDS identified were all higher in non-survival group compared to survival group (Z=-2.70, -2.52, -3.79 respectively, all P<0.05), and the improvement of OI in non-survival group was worse (0.03(-0.32, 0.31) vs. 0.32(-0.02, 0.56), Z=-2.49, P=0.013). ROC curve analysis showed that the OI on the thind day was more appropriate in predicting in-hospital mortality (area under the curve= 0.76, standard error 0.05,95%CI 0.65-0.87,P<0.001). When OI was set at 11.1, the sensitivity was 78.3% (95%CI 58.1%-90.3%), and the specificity was 60.3% (95%CI 49.2%-70.4%). Multivariate Logistic regression analysis showed that after adjusting for age, sex, pediatric critical illness score and fluid load within 72 h, no use of PS (OR=11.26, 95%CI 2.19-57.95, P=0.004), OI value on the third day (OR=7.93, 95%CI 1.51-41.69, P=0.014), and companied with immunodeficiency (OR=4.72, 95%CI 1.17-19.02, P=0.029) were independent risk factors for mortality in children with PARDS. Conclusions: The mortality of patients with moderate to severe PARDS is high, and immunodeficiency, no use of PS and OI on the third day after PARDS identified are the independent risk factors related to mortality. The OI on the third day after PARDS identified could be used to predict mortality.
Female ; Male ; Humans ; Child, Preschool ; Infant ; Child ; Critical Illness ; Pulmonary Surfactants/therapeutic use* ; Retrospective Studies ; Risk Factors ; Respiratory Distress Syndrome/therapy*

To provide proof of the evidence-based medicine and decision-making information for the clinical decision of functional gastrointestinal disorders(FGIDs), this study evaluated and compared the efficacy, safety, and economy of four oral Chinese patent medicines(CPMs) in the treatment of FGIDs using the method of rapid health technology assessment. The literature was systematically retrieved from CNKI, Wanfang, VIP, SinoMed, EMbase, PubMed, Cochrane Library and ClinicalTrials.gov from the establishment of the databases to May 1, 2022. Two evaluators screened out the literature, extracted data, evaluated the quality of the literature, and descriptively analyzed the results according to the prepared standard. Eventually, 16 studies were included, all of which was rando-mized controlled trial(RCT). The results showed that Renshen Jianpi Tablets, Renshen Jianpi Pills, Shenling Baizhu Granules, and Buzhong Yiqi Granules all had certain effects on the treatment of FGIDs. Renshen Jianpi Tablets treated FGIDs and persistent diarrhea. Shenling Baizhu Granules treated diarrhea with irritable bowel syndrome and FGIDs. Buzhong Yiqi Granules treated diarrhea with irritable bowel syndrome, FGIDs, and chronic diarrhea in children. Renshen Jianpi Pills treated chronic diarrhea. The four oral CPMs all have certain effects on the treatment of FGIDs and have specific advantages for specific patients. Compared with other CPMs, Renshen Jianpi Tablets have higher clinical universality. However, there are problems such as insufficient clinical research evidence, generally low quality of evidence, lack of comparative analysis among medicines, and lack of academic evaluation. More high-quality clinical research and the economic research should be carried out in the future, so as to provide more evidence for the evaluation of the four CPMs.
Child ; Humans ; Irritable Bowel Syndrome ; Technology Assessment, Biomedical ; Gastrointestinal Diseases ; Diarrhea

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Kartagener syndrome (KTS). METHODS: Trio-whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. Changes in protein structure due to missense variants were simulated and analyzed, and the Human Splicing Finder 3.0 (HSF 3.0) online platform was used to predict the effect of the variant of the non-coding region. RESULTS: The child had featured bronchiectasis, sinusitis and visceral inversion. Genetic testing revealed that he has harbored compound heterozygous variants of the DNAH5 gene, namely c.5174T>C and c.7610-3T>G. Sanger sequencing confirmed the existence of the variants. The variants were not found in the dbSNP, 1000 Genomes, ExAC, ClinVar and HGMD databases. Protein structural analysis suggested that the c.5174T>C (p.Leu1725Pro) variant may affect the stability of local structure and its biological activity. The results of HSF 3.0 analysis suggested that the c.7610-3T>G variant has probably destroyed a splicing receptor to affect the transcription process. CONCLUSION The compound heterozygous variants of the DNAH5 gene probably underlay the pathogenesis in the child. Above finding may facilitate the understanding of the clinical characteristics and genetic basis of KTS, and further expand the spectrum of DNAH5 gene variants.
Male ; Humans ; Child ; Mutation ; Kartagener Syndrome/genetics* ; Genetic Testing ; Mutation, Missense ; Exome Sequencing ; Axonemal Dyneins/genetics*

OBJECTIVE: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS). METHODS: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant. CONCLUSION The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans ; Child ; Pallister-Hall Syndrome/genetics* ; Kruppel-Like Transcription Factors/genetics* ; Zinc Finger Protein Gli3/genetics* ; Polydactyly/genetics* ; Hamartoma/pathology* ; Nerve Tissue Proteins/genetics*