Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances:A case report

BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia and hypomagnesemia,then the cause,such as renal tubular disease,should be carefully identified.CASE SUMMARY An 18-year-old female visited our clinic because of short stature and facial deformities,including typical phenotypes,such as low ear position,depression of the nasal bridge,small hands and feet,and loss of dentition.The lab results suggested normal parathyroid hormone but hypocalcemia.In addition,multiple electrolyte disturbances were found,including hypokalemia,hypocalcemia and hypomagnesemia.The physical signs showed a short fourth metatarsal bone of both feet.The X-ray images showed cortical thickening of long bones and narrowing of the medulla of the lumen.Cranial computed tomography indicated calcification in the bilateral basal ganglia.Finally,the genetic investigation showed a de novo heterogenous mutation of“FAM111A”(c.G1706A:p.R569H).Through a review of previously reported cases,the mutation was found to be the most common mutation site in Kenny-Caffey syndrome type 2(KCS2)cases reported thus far(16/23,69.6%).The mutation was slightly more prevalent in females than in males(11/16,68.8%).Except for hypocalcemia,other clinical manifestations are heterogeneous.CONCLUSION As a rare autosomal dominant genetic disease of hypoparathyroidism,the clinical manifestations of KCS2 are atypical and diverse.This girl presented with short stature,facial deformities and skeletal deformities.The laboratory results revealed hypocalcemia as the main electrolyte disturbance.Even though her family members showed normal phenotypes,gene detection was performed to find the mutation of the FAM111A gene and confirmed the diagnosis of KCS2.

Immune checkpoint inhibitor therapy-induced autoimmune polyendocrine syndrome typeⅡand Crohn's disease:A case report

BACKGROUND The development of immune checkpoint inhibitors(ICIs)has heralded a new era in cancer treatment,enabling the possibility of long-term survival in patients with metastatic disease.Unfortunately,ICIs are increasingly implicated in the development of autoimmune diseases.CASE SUMMARY We present a man with squamous cell carcinoma of the oropharynx on a combination of teriprizumab,docetaxel,and cisplatin therapy who developed autoimmune polyendocrine syndrome typeⅡ(APS-2)including thyroiditis and type 1 diabetes mellitus and Crohn’s disease(CD).He developed thirst,abdominal pain,and fatigue after two-week treatment with the protein 1 ligand inhibitor teriprizumab.Biochemistry confirmed APS-2 and thyrotoxicosis.He was commenced on an insulin infusion.However,his abdominal pain persisted.Follow-up surgery confirmed CD and his abdominal pain was relieved by mesalazine.He was continued on insulin and mesalazine therapy.CONCLUSION Immunotherapy can affect all kinds of organs.When clinical symptoms cannot be explained by a single disease,clinicians should consider the possibility of multisystem damage.

Aicardi-Goutières syndrome type 7 in a Chinese child:A case report

BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.

The Relationship between Golgi Protein 73, Alpha-Fetoprotein, Liver Function Indicators, and Traditional Chinese Medicine Syndrome Types of Primary Liver Cancer

Objective Our objective was to analyze the correlation between Golgi protein 73(GP73),alpha-fetoprotein(AFP),liver function indicators,and traditional Chinese medicine(TCM)syndrome types of primary liver cancer(hereinafter referred to as"liver cancer").Methods In total,156 liver cancer patients(liver cancer group)and 52 healthy individuals(health group)were selected as the research subjects to detect their GP73,AFP expression,and liver function-related indicators.The obtained data were statistically analyzed using SPSS 21.0 software.Results(1)The positive expression rate of GP73 in the liver cancer group was 50%;the positive expression rates of qi stagnation and blood stasis syndrome,heat tgxin in liver and galader yndroeand yndefceny flieran kidney yndg1i,%54.3,and 59.6%,respectively.There was no statistically significant difference betwgep the groups(p>0.05),The positive expreion rate of AFP was 50%.he positiy 32.8 expression rates of qi stagnation and blood stasis syndrome,heat-toxin in liyer ane gallbladder syndrome,and yin deficiency of liver and kidney syndrome were 41.7,54.3 an59.6%,respectively.There was a statistically significant difference between the groups(p<0.05).(2)The GP73 levels of patients with different syndrome types in the liver cancer group were ranked from high to low as yin deficiency of liver and ki41.3 syndrome,heat toxin in liver and gallbladder syndrome,and qi stagnation and brooa stasis syndrome.The differences between the groups were statistically significant(p<0.05).The AFP levels of patients with different syndrome types in the liver cancer group were ranked from high to low as heat toxin in liver and gallbladder syndrome,yin deficiency of liver and kidney syndrome,and qi stagnation and blood stasis syndrome.There was no statistically significant difference between the groups(p>0.05).(3)Analysis of liver function indicators in the liver cancer group:the alanine transaminase s(ALT)levels of patients with different syndrome types were in descending order from high to low,including yin deficiency of liver and kidney syndrome,heat toxin in liver and gallbladder syndrome,and qi stagnation and blood stasis syndrome.The differences between groups were statistically significant(p<0.05).The aspartate aminotransferase(AST)levels of patients with different syndrome types were ranked from high to low as follows:heat toxin in liver and gallbladder syndrome,yin deficiency of liver and kidney syndrome,and qi stagnation and blood stasis syndrome.The difference between groups was statistically significant(p<0.05).The levels of albumin(ALB)in patients with different syndrome types were ranked from high to low,including heat toxin in liver and gallbladder syndrome,qi stagnation and blood stasis syndrome,and yin deficiency of liver and kidney syndrome.The differences between groups were statistically significant(p<0.05).Conclusion GP73 and indicators such as ALT,AST,and ALB are of great significance in the diagnosis of TCM syndrome differentiation and classification of liver cancer patients.

Correlation Analysis of Traditional Chinese Medicine Syndrome Types and Influencing Factors of Asthmatic Bronchitis in Children

Objective:To explore the correlation between traditional Chinese medicine(TCM)syndrome types and the influencing factors of asthmatic bronchitis in children,as well as to provide clinical syndrome differentiation basis and reference for the treatment of children with asthmatic bronchitis.Methods:The clinical data of 197 inpatients with asthmatic bronchitis in our hospital from March 2021 to March 2022 were collected,referring to“Zhu Futang Practical Pediatrics”(7th Edition,2002)and“Chinese Medicine Industry Standards-Standards for Diagnosis and Efficacy of Pediatric Diseases and Syndromes of Traditional Chinese Medicine”(1994,State Administration of Traditional Chinese Medicine)for diagnosis,classification,and analysis of TCM syndrome types and the influencing factors of asthmatic bronchitis in children.Results:(i)cold asthma syndrome contributed to the majority of TCM syndrome types of pediatric asthmatic bronchitis;(ii)gender had a great influence on TCM syndromes types in children with asthmatic bronchitis,and the differences among the TCM syndrome types were statistically significant(P<0.05);(iii)there was no significant difference in the distribution of TCM syndrome types of pediatric asthmatic bronchitis among different age groups(P>0.05);(iv)birth status had no effect on the distribution of TCM syndrome types of pediatric asthmatic bronchitis(P>0.05);(v)no significant correlation was observed between the mode of delivery and the distribution of TCM syndrome types in children with asthmatic bronchitis(P>0.05);(vi)children with cold asthma syndrome,heat asthma syndrome,and mixed cold and heat syndrome were not breastfed,and there was no significant difference in the feeding methods of children with mixed deficiency and excess syndrome(P>0.05);(vii)no significant correlation was observed between the TCM syndrome types of pediatric asthmatic bronchitis and family history of asthma/allergy(P>0.05);(viii)a significant correlation was observed between different TCM syndrome types and history of drug and food allergy(P<0.05);(ix)normal or high eosinophil percentage was commonly observed in children with asthmatic bronchitis,and there was no significant difference among the different TCM syndrome types(P>0.05).Conclusion:The TCM syndrome types of pediatric asthmatic bronchitis are related to gender,feeding history,allergy history,and other factors,which may be influencing factors of the TCM syndrome types of pediatric asthmatic bronchitis.

Relationship between Traditional Chinese Medicine Syndrome Type and Coronary Arteriography of Acute Coronary Syndrome

Objective: To explore the relationship of Traditional Chinese Medicine (TCM) Syndrome type and coronary arteriography (CAG) with respect to the number and degree of stenosed branches of coronary artery (CA) and ACC/AHA stage of acute coronary syndrome (ACS), to provide an objective evidence for TCM Syndrome typing on ACS Methods: Ninety patients of ACS with their TCM Syndrome typing and CAG successfully conducted were enrolled in this study. They were classified into 3 Syndrome types, the blood stasis type (type I ), the phlegm stagnant with blood stasis type (type II ),and the endogenous collateral Wind type (type III) The scores of the number and severity of the stenosis branch of CA and ACC/AHA lesion stage in different Syndrome types were calculated respectively and analysed statistically by Ridit analysis. Results: The number of stenosed branches increased gradually with the Syndrome type changing from I -II-III, compared the type III with the other two types(P<0. 01). The severity of stenosis in type I and II were similar, but that of Type III, much aggravated was significantly different from that in the former two (P<0. 01) . The ACC/AHA stage of coronary lesion tended to be more complex as the Syndrome type changed, patients of TCM type I and II had mostly lesion of stage A or Bl , while lesion in majority of patients of type III belonged to stage B2 or C, comparison between the three types showed significant difference (P<0.01). Conclusion: Most ACS patients of TCM Syndrome type III with tri-branch, severe stenosed coronary arteries, belong to the complex ACC/AHA stage of B2 and C.

Correlation analysis of TCM syndrome types with T lymphocytes and biochemical indices in patients with HBV-related primary liver cancer

Objective:To investigate the correlation between T lymphocytes and biochemical indices in patients with Primary liver cancer(PLC)associated with hepatitis B virus(HBV)and TCM syndrome differentiation.Methods:263 HBV-related PLC patients who were admitted to the First Affiliated Hospital of Henan University of Traditional Chinese Medicine from January 2018 to December 2019 were retrospectively collected.There were 127 cases of liver depression and spleen deficiency syndrome(48.3%),48 cases of spleen deficiency and dampness syndrome(18.3%),31 cases of liver and gallbladder dampness and heat syndrome(11.8%),35 cases of liver and blood stasis syndrome(13.3%),and 22 cases of liver and kidney Yin deficiency syndrome(8.4%).The general data,T cell subsets,oncology and virology indicators,oncology characteristics,biochemical indicators and other data were counted.Epidata and Excel were used to collect and summarize the data,and SPSS26.0 software was used for statistical analysis.Results:There was no significant difference in gender and age distribution among the five syndrome types(χ^(2)=5.462,F=1.979,ALL P>0.05).The differences among T lymphocyte count(χ^(2)=57.785,P<0.001),CD4(+)T cell count(χ^(2)=47.103,P<0.001)and CD8(+)T lymphocyte count(F=12.760,P<0.001)were statistically significant.The T lymphocyte count,CD4(+)T lymphocyte count and CD8(+)T lymphocyte explicit count in patients with liver and kidney Yin deficiency syndrome were significantly lower than those in the other four syndrome types.AFP(χ^(2)=89.986,P<0.001),CEA(χ^(2)=95.501,P<0.001),CA199(χ^(2)=30.044,P<0.001)of the five syndrome types increased successively from the syndrome of liver depression and spleen deficiency to the syndrome of liver and kidney Yin deficiency,and the difference was statistically significant.There were statistically significant differences in the inner diameter of main portal vein,portal vein cancer thrombin and extrahepatic metastasis among the five syndrome types(ALL P<0.001).The main symptoms of portal vein cancer thrombin and extrahepatic metastasis were liver-gallbladder dampness-heat syndrome and liver-blood stasis syndrome.The differences among PLT(χ^(2)=39.234,P<0.001),Alb(χ^(2)=75.171,P<0.001),TBil(χ^(2)=51.140,P<0.001),AST(χ^(2)=55.881,P<0.001),PT(χ^(2)=21.515,P<0.001)were statistically significant.PLT and Alb decreased successively from the syndrome of liver depression and spleen deficiency to the syndrome of liver and kidney Yin deficiency.PLT and Alb of the syndrome of liver depression and spleen deficiency were significantly higher than those of the other four groups,and TBil and AST of the syndrome of liver and gallbladder dampness and heat were significantly higher than those of the other four groups.PT of liver and kidney Yin deficiency was significantly higher than that of the other four groups.The lymphocyte count,CD4(+) lymphocyte count and CD8(+) lymphocyte count were negatively correlated with AFP,PT and TBil(ALL P<0.05),and positively correlated with PLT(P<0.05).T lymphocyte count was positively correlated with AIb(P<0.05).Conclusion:This study found that patients with liver depression and spleen deficiency syndrome have better cellular immune function,liver function and prognosis.Patients with liver and kidney Yin deficiency have lower cellular immunity,worse liver function,and worse prognosis.Portal vein carcinoma embolus and extrahepatic metastasis were mainly characterized by dampness and heat of liver and gallbladder and blood stasis of liver.Patients with lower lymphocyte counts have poorer blood clotting,worse the liver reserve,and the higher the risk of further cancer.

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type Ⅱ

Waardenburg syndrome typeⅡ（WS2） is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15%of patients,is attributed to mutations in the microphthalmia-associated transcription factor（MITF） gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon（exon 2） of the most common hereditary deafness gene GJB2 and the mitochondrial DNA（mtDNA） 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G〉A]＋ [235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.

Preliminary Research on Syndrome Types of Chinese Medicine in Children with Primary Nephrotic Syndrome

Objective： To provide an objective reference for the syndrome types of Chinese medicine（CM） associated with pediatric primary nephrotic syndrome（PNS）.Methods： A cross-sectional study was performed.Data on clinical symptoms,CM syndrome types,biochemical indices,and medications used were collected from 98 children with PNS.Then,the correlation between CM syndromes and biochemical indices,as well as medications used,was analyzed.Results： The four most common symptoms in children with PNS were brown urine,red tongue,excessive sweating,and swelling of the face and limbs.The syndromes of qi deficiency of Fei（Lung） and Shen（Kidney）（FSQD） and yin deficiency of Gan（Liver） and Shen（GSYD） were the most common main CM syndrome types.FSQD syndrome score correlated significantly with the total cholesterol level,urine protein/creatinine ratio,and urine Ig G and albumin levels（P〈0.01 or P〈0.05）.The use of maintenance glucocorticoids combined with immunosuppressive agents correlated with FSQD syndrome,and the use of maintenance glucocorticoids alone correlated with GSYD syndrome（P〈0.05）.Conclusion： Two of the most common CM syndrome types were FSQD and GSYD syndromes.FSQD syndrome may be caused by some factors related to lipid levels,protein loss,and the use of immunosuppressive agents.The use of maintenance glucocorticoids may cause GSYD syndrome.

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

Background Waardenburg syndrome type I （WS1） is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees. Methods A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WSI. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABl_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program. Results Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein. Conclusions This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.

Randomized Controlled Trial on Treatment of Bronchial Asthma of Qi-deficiency Cold Syndrome Type by Pingchuan Yiqi Granule (平喘益气颗粒)

Objective： To evaluate the effect and safety of Pingchuan Yiqi Granule （平喘益气颗粒, PYG） in treating bronchial asthma of qi-deficiency cold syndrome type （BS-QDC）. Methods： With the randomized, positive agent parallel controlled design adopted, the 80 subjects enrolled were assigned in the ratio of 3：1 to two groups, the 60 patients in the trial group were treated with PYG and the 20 in the control group treated with Ruyi Dingchuan Pill （如意定喘丸,RDP）, with the therapeutic course consisting of 7 days for both groups. The clinical effects, effects on TCM syndrome and the changes of lung function after treatment were observed. Results： The effect of the treatment on asthma in the trial group： clinically controlled rate was 6.67%, markedly effective rate 51.67%, improved rate 33.33% and ineffective rate 8.33%; and the corresponding rates in the control group were 5.00%, 50.00%, 30.00%, and 15.00% respectively. Comparison between the two groups showed insignificant difference （P〉0.05）. The effect on TCM syndrome in the treated group： clinically controlled rate was 11.67%, markedly effective rate 58.33%, effective rate 21.67% and ineffective rate 8.33%; and those in the control group were 10.00%, 50.00%, 30.00% and 10.00% respectively, also showing insignificant difference between the two groups （P〉0.05）. Lung function test showed that the change on forced expiratory volume in 1 second （FEV1） after treatment in the trial group was of statistical significance （P〈0.05）, but no significant difference was shown in the change of peak expiratory flow （PEE P〉0.05）; while the changes in the control group were just the opposite, showing insignificance in FEV1 （P〉0.05） but significance in PEF （P〈0.05）. Comparison of the therapeutic effect on lung function between the two groups showed no significant difference （P〉0.05）. No adverse reaction was found in either group in the course of treatment. Conclusion： PYG used to treat BS-QDC is effective and safe, it＇s effect is similar to that of RDP.

ATP Synthase β-subunit Abnormality in Pancreas Islets of Rats with Polycystic Ovary Syndrome and Type 2 Diabetes Mellitus

This study investigated the abnormal expression of ATP synthase β-subunit（ATPsyn-β） in pancreas islets of rat model of polycystic ovary syndrome（PCOS） with type 2 diabetes mellitus（T2DM）,and the secretion function changes after up-regulation of ATP5 b.Sixty female SD rats were divided into three groups randomly and equally.The rat model of PCOS with T2 DM was established by free access to the high-carbohydrate/high-fat diet,subcutaneous injections of DHEA,and a single injection of streptozotocin.The pancreas was removed for the detection of the ATPsyn-β expression by immunohistochemical staining,Western blotting and reverse transcription-PCR（RT-PCR）.The pancreas islets of the rats were cultured,isolated with collagenase Ⅴ and purified by gradient centrifugation,and the insulin secretion after treatment with different glucose concentrations was tested.Lentivirus ATP5 b was successfully constructed with the vector of GV208 and transfected into the pancreas islets for the over-expression of ATPsyn-β.The insulin secretion and intracellular ATP content were determined after transfection of the PCOS-T2 DM pancreas islets with Lenti-ATP5 b.The results showed that the expression of ATPsyn-β protein and m RNA was significantly decreased in the pancreas of PCOS-T2 DM rats.The ATP content in the pancreas islets was greatly increased and the insulin secretion was improved after the up-regulation of ATPsyn-β in the pancreas islets transfected with lenti-ATP5 b.These results indicated that for PCOS,the ATPsyn-β might be one of the key factors for the attack of T2 DM.

To Explore the Chinese Medicine Syndrome Types and Integrative Therapy from Clinical Relative Factors of Patients with Advanced Prostate Cancer

Current Situation and Problems of the Treatment in Advanced Prostate Cancer In recent years,the incidence of prostate cancer shows a rising trend in China with an increase of 70%and has been the first place in the growth rate of malignant tumor in the male reproductive system. Prostate cancer has become a serious threat to male senior’s health.Because of the application of

Coexistence of ovarian serous papillary cystadenofibroma and type A insulin resistance syndrome in a 14-year-old girl: A case report

BACKGROUND Type A insulin resistance syndrome is a rare disorder caused by mutations in the gene encoding the insulin receptor.Its coexistence with ovarian serous papillary cystadenofibroma is even rarer.CASE SUMMARY A 14-year-old girl developed type A insulin resistance syndrome and showed high fasting insulin,glucose,and hemoglobin A1c(HbA1c)levels.The girl suffered from ovarian serous papillary cystadenofibroma.The laboratory results were as follows:fasting insulin was 2624.90 pmol/L and HbA1c was 8.5%.A heterozygous missense mutation on exon 20 of the insulin receptor gene(c.3601C>T,Arg1201Trp)was observed.The histopathological diagnosis was a cystic lesion that extended to the upper right uterus,indicating a right ovarian serous papillary cystadefibroma accompanied by focal interstitial hyperplasia.The patient was treated with metformin for over 6 mo.Additionally,laparoscopic resection(bilateral)of the ovarian lesion and laparoscopic intestinal adhesiolysis were performed under general anesthesia.Diet therapy combined with exercise was then initiated.The patient had an uneventful recovery.The patient also showed improved blood glucose control,with reduced levels of fasting insulin(857.84 pmol/L)and HbA1c(7.0%).CONCLUSION Insulin resistance may play a significant role in the induction of tumors.It is important to investigate further the association between insulin resistance and tumors and the underlying mechanism.

Treatment and five-year follow-up of type A insulin resistance syndrome:A case report

BACKGROUND Type A insulin resistance syndrome(TAIRS)is a rare disorder characterized by severe insulin resistance due to defects in insulin receptor signaling.No specific drugs are available for the treatment of TAIRS.We report a case of TAIRS successfully treated with pioglitazone and flutamide for 5 years.CASE SUMMARY We present the rare case of a female patient aged 11 years and 9 mo with type A insulin resistance and an INSR heterozygous mutation(c.3614 C>T),who was treated with a combination of pioglitazone and flutamide.This treatment regimen reduced hemoglobin A1 c,fasting insulin and androgen levels.CONCLUSION Pioglitazone attenuated insulin resistance in this patient with TAIRS,and flutamide ameliorated masculinization.

Relationship of Adrenocortical Function and TCM Syndrome Typing in Elderly Patients with Severe Sepsis

Objective: To explore the relationship between TCM Syndrome typing and adrenocortical function in elderly patients with severe sepsis, and to see whether TCM Syndrome Differentiation can provide clinical clues in identifying relative adrenal insufficiency (RAI) in patients with severe sepsis. Methods: Sixty-one old patients with severe sepsis were classified into four types according to TCM Syndrome Differentiation: The severe invasion of toxic-heat type (Type SITH, n = 21); the Qi stagnation and blood stasis type (Type QSBS, n = 11); the sudden depletion of Yang-Qi type (Type SDYQ, n = 16); and the exhaustion of Qi-Yin type (Type EOQY, n = 13). The base-line level of plasma cortisol in patients of different types and their response to corticotropin stimulation were compared, which were also compared with those of 12 healthy elderly persons synchronously. Results: The base-line level of plasma cortisol was not significantly different between patients of different Syndrome types ( P>0. 05), but they were all sgnificantly higher than that in the healthy persons (P<0. 05). Compared with Type QSBS and Type EOQY, Type SITH and Type SDYQ showed less cortisol concentration increment after corticotropin stimulation ( P<0. 05). RAI was more prevalent in patients of Type SITH and Type SDYQ than in patients of Type QSBS and Type EOQY (57% vs 25% , P<0. 01). Conclusion: In old patients with severe sepsis, different TCM Syndrome types are associated with different adrenocortical function status. TCM Syndrome differentiation can provide clinical clues in i-dentifying old patients with severe sepsis who have also RAI.

Study on the correlation between TCM syndrome differentiation and immune inflammation index of Sjogren's syndrome

Objective:To observe the relationship between the distribution of TCM Syndromes of primary Sjogren's syndrome(pSS)and the changes of erythrocyte sedimentation rate(ESR),C-reactive protein(CRP),tumor necrosis factor-α(TNF-α),interleukin-6(IL-6),immunoglobulin IgA,IgG and IgM.Methods:157 diagnosed PSS patients were divided into dampness heat obstructing collaterals syndrome,dryness evil invading lung syndrome,Qi blood stasis syndrome,liver kidney yin deficiency syndrome and Qi Yin deficiency syndrome according to TCM syndrome differentiation standard.The age,course of disease,general health score in international universal quality of life scale,self rating Anxiety scale(SAS),self rating Depression Scale(SDS)and erythrocyte sedimentation rate were observed and detected(ESR,C-reactive protein(CRP),tumor necrosis factor-α(TNF-α),interleukin-6(IL-6),immunoglobulin IgA,IgG and IgM and other immune inflammatory indexes were detected.The relationship between different TCM Syndromes of PSS and molecular level changes of immune inflammatory indexes was analyzed and compared,as well as the impact on quality of life and mental emotion.Results:The overall health score of patients with Qi Yin deficiency syndrome was significantly lower than that of patients with dampness heat obstructing collaterals and dampness evil invading lung syndrome(P<0.01),while the SAS and SDS scores of patients with Qi Yin deficiency syndrome were significantly higher than those of patients with dampness heat invading lung syndrome and dampness heat obstructing collaterals syndrome(P<0.05,P<0.01);ESR,CRP,RF,TNF-α,IL-6,IgA,IgG and IgM related laboratory indexes of patients with dampness heat obstructing collaterals syndrome were significantly higher than those of patients with dry evil invading lung syndrome,liver kidney yin deficiency syndrome and liver kidney yin deficiency syndrome Qi Yin deficiency syndrome and Qi blood stasis syndrome(P<0.05,P<0.01).Correlation test found that the above five syndrome types were positively correlated with hs-CRP,IL-6,TNF-ɑindicators(P<0.05).Conclusion:The overall health,SAS,SDS and related hs-CRP,IL-6,TNF-ɑand some others indexes of SS patients are associated with TCM syndromes.

The Comparative Study on Two Models of Syndrome Differentiation of the Hand, Foot and Mouth Disease: An Investigation Analysis of the Signs and Symptoms on 2325 Cases

Objective To realize the characteristics of "zheng" differentiation-treatment for hand, foot and mouth disease(HFMD), a new methodology of syndrome differentiation for different stages of HFMD has been explored. Methods Total of 2 325 cases with HFMD were recorded by distributing them into exterior syndrome stage, interior syndrome stage, severe syndrome stage and recovered syndrome stage, respectively, and the main symptoms and subsidiary symptoms of different stages of HFMD have been observed. The major and minor pathogenesis of HFMD in different stages were obtained, and compared with the "2010 Guideline for the Diagnosis and Treatment of HFMD". Results It was found that the major pathogenesis of exterior stage was defined as "the invation of the wenevil to the defender of the body with the collaterals got involved ", and the minor as "qi deficiency"; in interior stage, "the fury of Gan-Yang" was the main pathogenesis, and "qi in chaos and qi deficiency" was the minor; in severe syndrome stage, "the damage of heart, liver and lung" was the main pathogenesis, and "qi in chaos" was the minor; and the pathogenesis of recovered stage was "qi-yin deficiency". Compared with the "2010 Guideline for the Diagnosis and Treatment of HFMD", it showed that "the obstruction of the fei-pi qi by the mixture of shi-re evil" and "the mixture of shi-re" in vivo was quite difficult to be explained in completely different context in the general situation; in the severe stage, the TCM clinical characteristics of syndrome differentiation might lose; in the early acute severe cases, the phenomenon that xin-yang and fei-qi almost ran out was difficult to be observed, then, the line between the severe and the acute severe became vague.Conclusions The theory of syndrome differentiation by stages of HFMD was reasonable in the actual situation of clinical description on HFMD which was expected to be further tested and widely applied in the "zheng" differentiation-treatment of HFMD in the future.

A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome

We present a case of severe persisting unconjugated hyperbilirubinemia in a Uigur infant boy, eventually diagnosed as Crigler-Najjar syndrome type I. DNA analysis of his blood of the UGTIA1 gene sequence demonstrated that he was homozygous for an insertion mutation causing a change of the coding exons with a frame-shift, resulting in the substitution of 27 abnormal amino acid residues in his hepatic bilirubin uridine diphosphoglucuronyl transferase enzyme. Both of his parents were heterozygous for the same mutation. A novel frame-shifting mutation of the UGTIA1 gene was found, confirming the diagnosis of Crigler-Najjar syndrome type I for this patient.

Sphingosine phosphate lyase insufficiency syndrome:a systematic review

Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of SPLIS patients.Methods A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were included.For all patients,demographic,clinical,laboratory,and molecular data were collected and analyzed.Results Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 articles.Parental consanguinity and positive family history were reported in 70.9%and 52.7%of patients,respectively.Most patients(54.9%)primarily manifested within the first year of life,nearly half of whom survived,while all patients with a prenatal diagnosis of SPLIS(27.5%)died at a median[interquartile(IQR)]age of 2(1.4–5.3)months(P=0.003).The most prevalent clinical feature was endocrinopathies,including primary adrenal insufficiency(PAI)(71.2%)and hypothyroidism(32.7%).Kidney disorders(42,80.8%)were mainly in the form of steroid-resistant nephrotic syndrome(SRNS)and progressed to end-stage kidney disease(ESKD)in 19(36.5%)patients at a median(IQR)age of 6(1.4–42.6)months.Among 30 different mutations in SGPL1,the most common was c.665G>A(p.Arg222Gln)in 11(20%)patients.Twenty-six(49.1%)patients with available outcome were deceased at a median(IQR)age of 5(1.5–30.5)months,mostly following ESKD(23%)or sepsis/septic shock(23%).Conclusion In patients with PAI and/or SRNS,SGPL1 should be added to diagnostic genetic panels,which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.