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
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
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
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 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.
