Exogenous lipoid pneumonia is a rare and under recognized pulmonary disorder caused by the inhalation or aspiration of fat-like substances.Nasal decongestants containing mineral oils or paraffin are emerging as overlo...Exogenous lipoid pneumonia is a rare and under recognized pulmonary disorder caused by the inhalation or aspiration of fat-like substances.Nasal decongestants containing mineral oils or paraffin are emerging as overlooked etiological agents.This review consolidates existing literature to delineate the clinical,radiological,and pathological features of exogenous lipoid pneumonia induced by nasal decongestants,highlight diagnostic challenges,and underscore the importance of thorough patient history in early diagnosis and management.This condition,while preventable,can result in serious pulmonary complications if not recog-nized early.It necessitates a multidisciplinary approach that incorporates careful history taking,high-resolution imaging,cytological assessment,and public health vigilance.展开更多
Exogenous lipoid pneumonia(ELP)following hydrocarbon aspiration is an unusual but severe condition.This study aimed to summarize the cases of pneumonitis following fuel aspiration from a single center to serve as a us...Exogenous lipoid pneumonia(ELP)following hydrocarbon aspiration is an unusual but severe condition.This study aimed to summarize the cases of pneumonitis following fuel aspiration from a single center to serve as a useful reference for clinicians in the future.The clinical courses and outcomes of 11 patients with pneumonitis following fuel aspiration were collected and presented.Among them,four representative cases were described in detail to summarize the management experience of this disease,and these cases were analyzed to better understand the clinical features and management strategies of hydrocarbon pneumonitis following fuel aspiration.Almost all patients were found to present with cough and dyspnea,and the most common symptoms were dyspnea and chest pain.A high proportion(90.9%)of patients presented with bilateral lower pulmonary field involvement,and half of the patients showed pneumonic consolidation.One patient with irreversible lung injury received extracorporeal membrane oxygenation(ECMO)and a lung transplant.The other patients received oxygen support,antibiotics,steroids,and other supportive care.Antibiotics and steroids were the most commonly used treatments.While bronchoalveolar lavage(BAL)was beneficial for removing irritants,its utility could also be reduced due to significant risks.Finally,all patients had favorable outcomes.In conclusion,ELP was definitely harmful to patients’health,and hypoxemia was common among these patients.Supportive care,including antibiotics,steroids,and respiratory support,was the main treatment modality.It is recommended that the decision to employ BAL is made selectively.ECMO serves as a critical bridge to recovery or transplantation,and patients with timely and efficient treatment usually have a positive outcome.展开更多
A novel adsorbent named lipold adsorption material （LAM）, with a hydrophoblc nucleolus （trlolem） and a hydrophlllc membrane structure （polyamide）, was synthesized to remove hydrophobic organic chemicals （HOCs）...A novel adsorbent named lipold adsorption material （LAM）, with a hydrophoblc nucleolus （trlolem） and a hydrophlllc membrane structure （polyamide）, was synthesized to remove hydrophobic organic chemicals （HOCs） from solution. Triolein, a type of lipoid, was entrapped by the polyamide membrane through an interfacial polymerization reaction. The method of preparation and the structure of the LAM were investigated and subsequent experiments were conducted to determine the characteristics of atrazine （a type of HOC） removal from wastewater using LAM as the adsorbent. The results showed that LAM had a regular structure compared with the prepolymer, where compact particles were linked with each other and openings were present in the structure of the LAM in which the fat drops formed from triolein were entrapped. In contrast to the atrazine adsorption behavior of powdered activated carbon （PAC）, LAM showed a persistent adsorption capacity for atrazine when initial concentrations of 0.57, 1.12, 8.31 and 19.01 mg/L were present, and the equilibrium time was 12 hr. Using an 8 mg/L initial concentration of atrazine as an indicator of HOCs in aqueous solution, experiments on the adsorption capacity of the LAM showed 69.3% removal within 6-12 hr contact time, which was close to the 75.5% removal of atrazine by PAC. Results indicated that LAM has two atrazine removal mechanisms, namely the bioaccumulation of atrazine by the nucleous material and physical adsorption to the LAM membrane. Bioaccumulation was the main removal mechanism.展开更多
Objective: To observe the effect of Xuesaitong (血塞通, XST) soft capsule in interference treatment on patients of nephrosis syndrome (NS) during corticosteroid (CS) dose reducing stage. Methods: Seventy-one NS patien...Objective: To observe the effect of Xuesaitong (血塞通, XST) soft capsule in interference treatment on patients of nephrosis syndrome (NS) during corticosteroid (CS) dose reducing stage. Methods: Seventy-one NS patients applying prednisone and initiating dose reducing stage were randomized into trial group and control group. On the basis of conventional prednisone dose reduction of both groups, the trial group was given additionally XST, and the treatment course ended with the reduction to maintenance dose. In the course of observation, those who did not comply with the criteria of observation were excluded. Before and after the dose reduction, TCM syndrome scoring, 24 hrs urinary protein amount, blood β2-microglobulin (β2-MG), urinary β2-MG, blood fibrinogen (Fbg), plasma prothrombin time (PT), blood lipid, etc. were observed. Results: The trial group of XST could obviously lower their urinary protein amount and blood lipid level (P<0.05 or P<0.01), markedly improve the blood coagulation parameters (P<0.01), improve the TCM syndrome and CS induced adverse reaction (P<0.05 or P<0.01), also obviously reduced the recurrence rate of NS (P<0.05). Conclusion: XST could obviously improve the clinical symptoms and renal impairment parameters in NS patients during CS dose reduction stage, improve the CS induced adverse reaction and prevent the recurrence of NS.展开更多
Objective: microRNAs (miRNAs) are regulatory RNAs that act as important players in diverse biologic and pathologic processes. Under circumstance as podocye-injury triggering proteinuria, which miRNAs are up-regulated ...Objective: microRNAs (miRNAs) are regulatory RNAs that act as important players in diverse biologic and pathologic processes. Under circumstance as podocye-injury triggering proteinuria, which miRNAs are up-regulated or down-regulated? This experiment aims at detecting miRNAs changes in PAN nephrosis rats based on miRNA arrays and exploring the therapeutic targets of Leizhi capsule. Methods: Fifty male wistar rats were randomly divided into five groups, including control group, model group, leizhi capsule group, Tripterygium glucosides group, and valsartan group. PAN nephrosis models were made by jugular vein injection of PAN (100 mg/kg body weight, dissolve in physiological saline), while control group rats were made by jugular vein injection of physiological saline with equal volume. Other groups rats had been given medicines by irrigating stomach once a day for ten days. Blood and urine samples were collected, and renal tissues were processed after rats being euthanasised. The 24 h urinary protein excretion and blood biochemistry parameters were measured by routine methods. The glomerular morphology and podocyte ultrastructure were observed with light microscopy and transmission electron microscopy respectively. miRNA expression profile was detected by Exiqon miRNA Array. Real time RT-PCR analysis for mature miRNAs was used to validate differentially expressed miRNAs. Results: 1) In day 3 - 5, model rats had decreased urine volume, ascites, malnutrition and wight loss. From day 7 to day 10, the nephrotic syndromes were worst in model rats, but which had no skin edema. Some rats died in serious ascites, the mortality is 3/10. 2) miRNA array detection shows 106 miRNAs up regulated and 62 miRNAs down regulated in PAN nephrosis rats. Fold change (model vs. control group) varies from 1.8 to 7.0. For leizhi capsule group and model sample, there are 90 miRNAs differentially expressed, with 65 miRNAs up and 25 miRNAs down. The most important finding in our research is the discovery of the specific miRNAs related to PAN nephrosis (rno-miR23a, rno-miR-24, rno-miR-30c and rno-miR-300-3p), which have been validated by Real time RT-PCR analysis. 3) Compared with control sample, immune fluorescence intensity of dicer, expression profile of nephrin, podocin and synaptopodin mRNA and protein decrease in PAN nephrosis rats. After treated with Leizhi Capsule, immune fluorescence intensity of the above molecules improved. Conclusion: 1) Characteristic miRNAs of PAN nephrosis were screening. Up-regulated miRNAs (rno-miR-23a, rno-miR-300-3p) may trigger podocyte injury and proteinuria, while down-regulated miRNAs (rno-miR-24, rno-miR-30c) may be protective factors by anti-apoptosis. 2) Dicer and these miRNAs (rno-miR-24, rno-miR-30c, rno-miR-23a) may be are probably key molecules therapeutic targets of Leizhi capsule.展开更多
BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of li...BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.展开更多
Diesel poisoning is a rare clinical condition.On September 27,2021,a 55-year-old male who mistakenly inhaled 20 mL of diesel through a siphon was admitted to our hospital.The main symptoms were cough and asthma.Chest ...Diesel poisoning is a rare clinical condition.On September 27,2021,a 55-year-old male who mistakenly inhaled 20 mL of diesel through a siphon was admitted to our hospital.The main symptoms were cough and asthma.Chest computed tomography(CT)showed both lungs scattered with patchy consolidation,ground-glass shadow,exudation,and pleural effusion.After 61 days of lung rehabilitation training and other supportive treatment,including oxygen therapy,postural drainage,ventilator support,bronchoalveolar lavage,hemoperfusion,continuous renal replacement therapy(CRRT),hormones,and antibiotics,the patient’s condition improved,and the patient was discharged.Through literature review,we found that lung consolidation,ground-glass shadow,nodular lesions,and pleural effusion can be observed on chest images of patients with lipoid pneumonia,with severe cases showing diffuse lesions involving both lungs,possibly secondary to respiratory failure.Children with acute critical illness deteriorates rapidly and have poor prognosis,whereas adults or patients with chronic poisoning have better prognosis after active treatment.展开更多
Introduction:Urbach-Wiethe disease(or lipoid proteinosis)is an autosomal recessive genetic disease.It is caused by a mutation in the extracellular matrix protein 1 gene(ECM1),resulting in deposition of hyaline materia...Introduction:Urbach-Wiethe disease(or lipoid proteinosis)is an autosomal recessive genetic disease.It is caused by a mutation in the extracellular matrix protein 1 gene(ECM1),resulting in deposition of hyaline material at the dermoepidermal junction of the skin,around blood vessels,and at multiple other sites.Herein,we reported 3 siblings with lipoid proteinosis.Case presentation:The 3 siblings born to nonconsanguineous parents presented with hoarseness,macroglossia,yellow waxy skin,beaded papules on the eyelids,atrophic scars,and recurrent skin infections.Histopathologic examination showed hyaline deposition at the interface between the dermis and epidermis and at the basal lamina of blood vessels.Exome sequencing revealed a homozygous nonsense variant in ECM1.This variant created a premature stop codon,leading to loss of function.Both parents were heterozygous for the same mutation.Discussion:The gene responsible for lipoid proteinosis,ECM1,plays a key role in maintaining dermal homeostasis by influencing protein-protein binding and is also involved in aging and dermatoheliosis,which may explain the patients’prematurely aged appearance and dermal deposits in our cases.Lipoid proteinosis is rarely encountered in Pakistan.Around 47 variants of ECM1 have been documented,with about half involving exon 6 or 7 of the gene.The variant detected in our family was in exon 7.Genetic analysis and identification of causative variants may enhance understanding of the disease’s pathogenesis and aid better management.Conclusion:This report is a useful addition to the current knowledge base regarding this phenotypically and genetically variable genodermatosis,lipoid proteinosis,which is rarely reported in Pakistan.展开更多
Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized b...Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.展开更多
Adrenocortical hormone (ACH) has antiinflammatory and antiallergic actions, changes stress state and controls the attack of some severe and obstinate diseases. The treatment of chronic diseases with ACH often leads to...Adrenocortical hormone (ACH) has antiinflammatory and antiallergic actions, changes stress state and controls the attack of some severe and obstinate diseases. The treatment of chronic diseases with ACH often leads to its dependence; especially oral administration of ACH for a long time is liable to inhibit the function of hypothalamus-pituitary-adrenocortical-thymic axis (HPAT), and results in the hypo-reservation of adrenal cortex. Hence, sudden ACH withdrawal or decrease often causes the disease recurrence, even adrenocortical crisis. Academician Shen Ziyin has a wealth of clinical experience in both the withdrawal and reduction of ACH and the keeping of therapeutical effectiveness to form his unique remedy in the application of drugs. Shen's rich experience is described as follows.展开更多
文摘Exogenous lipoid pneumonia is a rare and under recognized pulmonary disorder caused by the inhalation or aspiration of fat-like substances.Nasal decongestants containing mineral oils or paraffin are emerging as overlooked etiological agents.This review consolidates existing literature to delineate the clinical,radiological,and pathological features of exogenous lipoid pneumonia induced by nasal decongestants,highlight diagnostic challenges,and underscore the importance of thorough patient history in early diagnosis and management.This condition,while preventable,can result in serious pulmonary complications if not recog-nized early.It necessitates a multidisciplinary approach that incorporates careful history taking,high-resolution imaging,cytological assessment,and public health vigilance.
基金supported by the National Key Research and Development Program of China(Nos.2023YFC3603100 and 2023YFC3603105)and the Project of Zhejiang Provincial Department of Education(No.Y202353933),China.
文摘Exogenous lipoid pneumonia(ELP)following hydrocarbon aspiration is an unusual but severe condition.This study aimed to summarize the cases of pneumonitis following fuel aspiration from a single center to serve as a useful reference for clinicians in the future.The clinical courses and outcomes of 11 patients with pneumonitis following fuel aspiration were collected and presented.Among them,four representative cases were described in detail to summarize the management experience of this disease,and these cases were analyzed to better understand the clinical features and management strategies of hydrocarbon pneumonitis following fuel aspiration.Almost all patients were found to present with cough and dyspnea,and the most common symptoms were dyspnea and chest pain.A high proportion(90.9%)of patients presented with bilateral lower pulmonary field involvement,and half of the patients showed pneumonic consolidation.One patient with irreversible lung injury received extracorporeal membrane oxygenation(ECMO)and a lung transplant.The other patients received oxygen support,antibiotics,steroids,and other supportive care.Antibiotics and steroids were the most commonly used treatments.While bronchoalveolar lavage(BAL)was beneficial for removing irritants,its utility could also be reduced due to significant risks.Finally,all patients had favorable outcomes.In conclusion,ELP was definitely harmful to patients’health,and hypoxemia was common among these patients.Supportive care,including antibiotics,steroids,and respiratory support,was the main treatment modality.It is recommended that the decision to employ BAL is made selectively.ECMO serves as a critical bridge to recovery or transplantation,and patients with timely and efficient treatment usually have a positive outcome.
基金supported by the State Key Laboratory of Urban Water Resource and Environment (Harbin Institute of Technology) (No. 08UWQA07, 2010DX02)the special fund of the State Key Joint Laboratory of Environment Simulation and Pollution Control (No. 09K06ESPCT)
文摘A novel adsorbent named lipold adsorption material （LAM）, with a hydrophoblc nucleolus （trlolem） and a hydrophlllc membrane structure （polyamide）, was synthesized to remove hydrophobic organic chemicals （HOCs） from solution. Triolein, a type of lipoid, was entrapped by the polyamide membrane through an interfacial polymerization reaction. The method of preparation and the structure of the LAM were investigated and subsequent experiments were conducted to determine the characteristics of atrazine （a type of HOC） removal from wastewater using LAM as the adsorbent. The results showed that LAM had a regular structure compared with the prepolymer, where compact particles were linked with each other and openings were present in the structure of the LAM in which the fat drops formed from triolein were entrapped. In contrast to the atrazine adsorption behavior of powdered activated carbon （PAC）, LAM showed a persistent adsorption capacity for atrazine when initial concentrations of 0.57, 1.12, 8.31 and 19.01 mg/L were present, and the equilibrium time was 12 hr. Using an 8 mg/L initial concentration of atrazine as an indicator of HOCs in aqueous solution, experiments on the adsorption capacity of the LAM showed 69.3% removal within 6-12 hr contact time, which was close to the 75.5% removal of atrazine by PAC. Results indicated that LAM has two atrazine removal mechanisms, namely the bioaccumulation of atrazine by the nucleous material and physical adsorption to the LAM membrane. Bioaccumulation was the main removal mechanism.
文摘Objective: To observe the effect of Xuesaitong (血塞通, XST) soft capsule in interference treatment on patients of nephrosis syndrome (NS) during corticosteroid (CS) dose reducing stage. Methods: Seventy-one NS patients applying prednisone and initiating dose reducing stage were randomized into trial group and control group. On the basis of conventional prednisone dose reduction of both groups, the trial group was given additionally XST, and the treatment course ended with the reduction to maintenance dose. In the course of observation, those who did not comply with the criteria of observation were excluded. Before and after the dose reduction, TCM syndrome scoring, 24 hrs urinary protein amount, blood β2-microglobulin (β2-MG), urinary β2-MG, blood fibrinogen (Fbg), plasma prothrombin time (PT), blood lipid, etc. were observed. Results: The trial group of XST could obviously lower their urinary protein amount and blood lipid level (P<0.05 or P<0.01), markedly improve the blood coagulation parameters (P<0.01), improve the TCM syndrome and CS induced adverse reaction (P<0.05 or P<0.01), also obviously reduced the recurrence rate of NS (P<0.05). Conclusion: XST could obviously improve the clinical symptoms and renal impairment parameters in NS patients during CS dose reduction stage, improve the CS induced adverse reaction and prevent the recurrence of NS.
文摘Objective: microRNAs (miRNAs) are regulatory RNAs that act as important players in diverse biologic and pathologic processes. Under circumstance as podocye-injury triggering proteinuria, which miRNAs are up-regulated or down-regulated? This experiment aims at detecting miRNAs changes in PAN nephrosis rats based on miRNA arrays and exploring the therapeutic targets of Leizhi capsule. Methods: Fifty male wistar rats were randomly divided into five groups, including control group, model group, leizhi capsule group, Tripterygium glucosides group, and valsartan group. PAN nephrosis models were made by jugular vein injection of PAN (100 mg/kg body weight, dissolve in physiological saline), while control group rats were made by jugular vein injection of physiological saline with equal volume. Other groups rats had been given medicines by irrigating stomach once a day for ten days. Blood and urine samples were collected, and renal tissues were processed after rats being euthanasised. The 24 h urinary protein excretion and blood biochemistry parameters were measured by routine methods. The glomerular morphology and podocyte ultrastructure were observed with light microscopy and transmission electron microscopy respectively. miRNA expression profile was detected by Exiqon miRNA Array. Real time RT-PCR analysis for mature miRNAs was used to validate differentially expressed miRNAs. Results: 1) In day 3 - 5, model rats had decreased urine volume, ascites, malnutrition and wight loss. From day 7 to day 10, the nephrotic syndromes were worst in model rats, but which had no skin edema. Some rats died in serious ascites, the mortality is 3/10. 2) miRNA array detection shows 106 miRNAs up regulated and 62 miRNAs down regulated in PAN nephrosis rats. Fold change (model vs. control group) varies from 1.8 to 7.0. For leizhi capsule group and model sample, there are 90 miRNAs differentially expressed, with 65 miRNAs up and 25 miRNAs down. The most important finding in our research is the discovery of the specific miRNAs related to PAN nephrosis (rno-miR23a, rno-miR-24, rno-miR-30c and rno-miR-300-3p), which have been validated by Real time RT-PCR analysis. 3) Compared with control sample, immune fluorescence intensity of dicer, expression profile of nephrin, podocin and synaptopodin mRNA and protein decrease in PAN nephrosis rats. After treated with Leizhi Capsule, immune fluorescence intensity of the above molecules improved. Conclusion: 1) Characteristic miRNAs of PAN nephrosis were screening. Up-regulated miRNAs (rno-miR-23a, rno-miR-300-3p) may trigger podocyte injury and proteinuria, while down-regulated miRNAs (rno-miR-24, rno-miR-30c) may be protective factors by anti-apoptosis. 2) Dicer and these miRNAs (rno-miR-24, rno-miR-30c, rno-miR-23a) may be are probably key molecules therapeutic targets of Leizhi capsule.
文摘BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.
文摘Diesel poisoning is a rare clinical condition.On September 27,2021,a 55-year-old male who mistakenly inhaled 20 mL of diesel through a siphon was admitted to our hospital.The main symptoms were cough and asthma.Chest computed tomography(CT)showed both lungs scattered with patchy consolidation,ground-glass shadow,exudation,and pleural effusion.After 61 days of lung rehabilitation training and other supportive treatment,including oxygen therapy,postural drainage,ventilator support,bronchoalveolar lavage,hemoperfusion,continuous renal replacement therapy(CRRT),hormones,and antibiotics,the patient’s condition improved,and the patient was discharged.Through literature review,we found that lung consolidation,ground-glass shadow,nodular lesions,and pleural effusion can be observed on chest images of patients with lipoid pneumonia,with severe cases showing diffuse lesions involving both lungs,possibly secondary to respiratory failure.Children with acute critical illness deteriorates rapidly and have poor prognosis,whereas adults or patients with chronic poisoning have better prognosis after active treatment.
文摘Introduction:Urbach-Wiethe disease(or lipoid proteinosis)is an autosomal recessive genetic disease.It is caused by a mutation in the extracellular matrix protein 1 gene(ECM1),resulting in deposition of hyaline material at the dermoepidermal junction of the skin,around blood vessels,and at multiple other sites.Herein,we reported 3 siblings with lipoid proteinosis.Case presentation:The 3 siblings born to nonconsanguineous parents presented with hoarseness,macroglossia,yellow waxy skin,beaded papules on the eyelids,atrophic scars,and recurrent skin infections.Histopathologic examination showed hyaline deposition at the interface between the dermis and epidermis and at the basal lamina of blood vessels.Exome sequencing revealed a homozygous nonsense variant in ECM1.This variant created a premature stop codon,leading to loss of function.Both parents were heterozygous for the same mutation.Discussion:The gene responsible for lipoid proteinosis,ECM1,plays a key role in maintaining dermal homeostasis by influencing protein-protein binding and is also involved in aging and dermatoheliosis,which may explain the patients’prematurely aged appearance and dermal deposits in our cases.Lipoid proteinosis is rarely encountered in Pakistan.Around 47 variants of ECM1 have been documented,with about half involving exon 6 or 7 of the gene.The variant detected in our family was in exon 7.Genetic analysis and identification of causative variants may enhance understanding of the disease’s pathogenesis and aid better management.Conclusion:This report is a useful addition to the current knowledge base regarding this phenotypically and genetically variable genodermatosis,lipoid proteinosis,which is rarely reported in Pakistan.
基金Acknowledgment We are grateful to the patient＇s family for their contribution and participation in this clinical report. We also thank our colleagues Mr. Wei Wang and Mr. Jing Xie for their help in collecting blood samples.This study was supported by a grant of National Natural Science Foundation of China （No. 81371723）.
文摘Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.
文摘Adrenocortical hormone (ACH) has antiinflammatory and antiallergic actions, changes stress state and controls the attack of some severe and obstinate diseases. The treatment of chronic diseases with ACH often leads to its dependence; especially oral administration of ACH for a long time is liable to inhibit the function of hypothalamus-pituitary-adrenocortical-thymic axis (HPAT), and results in the hypo-reservation of adrenal cortex. Hence, sudden ACH withdrawal or decrease often causes the disease recurrence, even adrenocortical crisis. Academician Shen Ziyin has a wealth of clinical experience in both the withdrawal and reduction of ACH and the keeping of therapeutical effectiveness to form his unique remedy in the application of drugs. Shen's rich experience is described as follows.
