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Objective:To describe the clinical features of pediatric biotinase deficiency (BTD) manifested as spinal cord disease.Methods:The clinical data of a child with spinal cord lesions due to biotinase deficiency, diagnosed in Beijing Children′s Hospital in 2020, were collected. The cases with complete clinical data retrieved on literature reported in China National Knowledge Infrastructure, Wanfang Data knowledge Service Platform and PubMed (up to August 2021) by using search terms of biotinase deficiency, pediatric, spinal cord, myelopathy and myelitis were summarized.Results:The patient was a 3 years and 5 months old boy with the main clinical manifestations of subacute progressive limb weakness and wheezing. Physical examination showed sparse hair, rough skin, spastic paraparesis and developmental delay. Cerebrospinal lactic acid was increased (5.67 mmol/L). Cranial magnetic resonance imaging (MRI) showed diffuse T 2/fluid attenuated inversion recovery hyperintensity of the midbrain, dorsal pons, edulla, periacqueductal grey and optic tracts. Spinal cord lesions were extended from the medulla up to the level of the conus. Urineketone bodies and 3-hydroxyisurate were increased. The activity of biotinidase was 0.27 pmol/min (3 mm disc), being 7% of mean normal serum activity. Genetic studies revealed homozygous mutation in the BTD gene [c.284T>A (p.I95N)]. After biotin supplementation for 6 months, the only evident abnormality was residual spasticity of lower limbs. Fourteen English literatures and 2 Chinese literatures including 18 cases were collected. The onset age was from 2 months to 15 years (median age was 4 years). Among them, 11 cases had cranial MRI abnormalities, of which all involved brain stem, 6 cases involved optic tracts and (or) optic chiasm. All 18 cases had spinal cord MRI abnormalities with longitudinally extensive lesion, mostly involved cervical and thoracic spinal segments, and 3 cases involved all spinal segments. Twelve cases received immunotherapy, and 6 were partially improved, 6 were completely invalid. After biotin supplementation, 12 patients had neurological disability. Conclusions:BTD should be included in the differential diagnosis of subacute myelopathy, regardless of the onset age. Early diagnosis and treatment can prevent irreversible neurological damage.
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Characterized by impaired neuromuscular transmission, congenital myasthenic syndromes (CMS) are a group of genetic disorders.The main manifestations include fatigue and weakness of skeletal muscle, with most onset in infant or early childhood.The common cause of death is respiratory failure, with high disability rate.With the improvement of gene sequencing technology and the in-depth study on the structure and function of pathogenic proteins, the pathogenesis of the disease has been deeply understood in the past 20 years.Early diagnosis and treatment can significantly improve the symptoms in patients.In this manuscript, the etiology, clinical characteristics, diagnosis and treatment of CMS are reviewed.
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Objective:To explore the influence of patient participation-based dietary intervention on nutritional status for patients with severe burn.Methods:From September 2017 to January 2019, 60 severe burn patients hospitalized in the department of burn and plastic surgery of Qingdao Municipal Hospital were recruited and divided into the experimental group ( n=30) and the control group ( n=30) according to the random number table method. The control group received a regular diet. While the experimental group received a patient participation-based dietary intervention(PPDI), The wound healing time and the value of nutritional status index, such as height, body mass index(BMI), serum albumin, serum prealbumin, in the two groups on admission, at 2 weeks after intervention, 4 weeks after intervention were compared. The nutritional knowledge questionnaire of burn patients and "3-day diet diary" were used for investigation. Results:The score of nutritional knowledge showed no significant difference between the two groups before intervention. After intervention, the score of nutritional knowledge in the experimental group was 21.40±2.42, significantly higher than that in the control group (19.00±2.26) ( t value was 3.975, P<0.01). For time effect and between-group effect, there were significant difference in serum albumin between two groups ( F values were 9.232, 4.651, P<0.05); the time effect and between-group effect of serum prealbumin were statistically significant ( F values were 11.592, 6.228, P < 0.05). The wound healing time in the experimental group was significantly lower than that in the control group ( t value was -3.801, P<0.01). Conclusions:Patient participation-based dietary intervention can effectively enhanced the level of nutritional knowledge, improved nutritional status, shortened wound healing time among patients with severe burn.
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Objective:To compile and evaluate the questionnaire of knowledge, belief and practice of perioperative nurses in the prevention of deep venous thrombosis (DVT) in order to provide a tool for further investigation of the status quo of nursing care in the prevention of DVT during perioperative period.Methods:Based on the theoretical model of knowledge, belief and practice, a questionnaire item pool was established by literature reading and semi-structured interviews, and an initial questionnaire was formed by Delphi expert inquiry. It was convenient to select 197 nurses engaged in surgery and operating room nursing in Qingdao Municipal Hospital Affiliated to Qingdao University to carry out the pre questionnaire, and to carry out the differentiation levels,relevance coefficient analysis and reliability and validity test were used to form a formal questionnaire.Results:After two rounds of Delphi expert inquiries, three items with lower assignment value and four items with modified contents were deleted to form the initial questionnaire. The positive coefficients of experts in two rounds of inquiry were 85.00% and 100.00%, respectively; the Kendall's harmonious coefficients of experts were 0.195 and 0.204 ( P<0.01); and the authoritative coefficients of experts were 0.836 and 0.849. Four items were deleted from 197 pre-survey questionnaires by discriminatory analysis, correlation coefficient analysis and reliability and validity test. The Item Level Validity (I-CVI) of the total questionnaire was 0.800-1.000, and the Scale Level Validity (S-CVI) was 0.825. In the structural validity analysis, the KMO value of each item was 0.824, the Bartlett spherical test value was 3170.304, P < 0.01. Twelve common factors with eigenvalues greater than 1 were extracted, and the cumulative variance contribution rate was 66.11%. The intrinsic consistency Cronbach a coefficient of the total questionnaire was 0.859, and the retest reliability was 0.706. Finally, a formal questionnaire with 40 items in 15 knowledge dimensions, 10 belief dimensions and 15 behavior dimensions was formed. Conclusion:The reliability and validity of the questionnaire are well evaluated, and it can be used as a tool for investigating the knowledge, belief and practice of perioperative nurses in preventing deep venous thrombosis.
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Objective@#To compile and evaluate the questionnaire of knowledge, belief and practice of perioperative nurses in the prevention of deep venous thrombosis (DVT) in order to provide a tool for further investigation of the status quo of nursing care in the prevention of DVT during perioperative period.@*Methods@#Based on the theoretical model of knowledge, belief and practice, a questionnaire item pool was established by literature reading and semi-structured interviews, and an initial questionnaire was formed by Delphi expert inquiry. It was convenient to select 197 nurses engaged in surgery and operating room nursing in Qingdao Municipal Hospital Affiliated to Qingdao University to carry out the pre questionnaire, and to carry out the differentiation levels,relevance coefficient analysis and reliability and validity test were used to form a formal questionnaire.@*Results@#After two rounds of Delphi expert inquiries, three items with lower assignment value and four items with modified contents were deleted to form the initial questionnaire. The positive coefficients of experts in two rounds of inquiry were 85.00% and 100.00%, respectively; the Kendall's harmonious coefficients of experts were 0.195 and 0.204 (P<0.01); and the authoritative coefficients of experts were 0.836 and 0.849. Four items were deleted from 197 pre-survey questionnaires by discriminatory analysis, correlation coefficient analysis and reliability and validity test. The Item Level Validity (I-CVI) of the total questionnaire was 0.800-1.000, and the Scale Level Validity (S-CVI) was 0.825. In the structural validity analysis, the KMO value of each item was 0.824, the Bartlett spherical test value was 3170.304, P < 0.01. Twelve common factors with eigenvalues greater than 1 were extracted, and the cumulative variance contribution rate was 66.11%. The intrinsic consistency Cronbach a coefficient of the total questionnaire was 0.859, and the retest reliability was 0.706. Finally, a formal questionnaire with 40 items in 15 knowledge dimensions, 10 belief dimensions and 15 behavior dimensions was formed.@*Conclusion@#The reliability and validity of the questionnaire are well evaluated, and it can be used as a tool for investigating the knowledge, belief and practice of perioperative nurses in preventing deep venous thrombosis.
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Objective@#To investigate the clinical significance of different samples (the peripheral blood, urine and skeletal muscle) that could be detected the large-scale single deletions directly by using next-generation sequencing in the diagnosis of Kearns-Sayre syndrome (KSS) by concluding the clinical and genetic features of KSS, in order to explore a non-invasive method for diagnosis.@*Methods@#The clinical data, skeletal muscle′s pathology and enzymology and genetic results of individuals with KSS, who were hospitalized from October 2016 to October 2017 in Department of Neurology, Beijing Children′s Hospital, Capital Medical University, were collected.The gene tests were performed by using next generation sequencing technology and long-PCR technology of mitochondrial DNA(mtDNA) and the whole exon in the peripheral blood, urine and skeletal muscle.@*Results@#Four patients were all consistent with the diagnosis criteria of KSS, among whom the age of onset was 8.2 years old on average, and the initial symptoms were statue, ptosis, headache and vomiting, and visual impairment.The common symptoms of the 4 cases were ophthalmoplegia, exercise intolerance, development delay, loss of appetite, hypotonia, muscle weakness, with cerebrospinal fluid protein concentration over 1 000 mg/L, the cerebral magnetic resonance imaging showed that abnormal signals in the brainstem, in addition, white matter, thalamus, basal ganglia, cerebrum and cerebellum atrophy could be found.Moreover, 3 cases had cardiac conduction block.Two cases had maternal family history.Molecular analysis of the 4 cases revealed the large-scale single deletions of mtDNA from the peripheral blood, the urine, the skeletal muscle through the next-generation sequencing, which were m. 6460-15590(9 131 bp del), m.8482-13446(4 964 bp del), m.6831-14981(8 151 bp del), m.7983-15495(7 513 bp del), respectively.Among 3 cases who did pedigree analysis, only the mother of case 4 was detected with the same variation of the proband.@*Conclusions@#KSS is a rare mitochondrial disease, which could be detected with the single large scale mtDNA deletions in the peripheral blood, urine and skeletal muscle.With the development of the methodology, the diagnosis of KSS maybe no longer than depends on the muscle biopsy with the next-generation sequencing.And the possibility to get the positive results in the peripheral blood and urine by the non-invasive method could improve the molecular diagnosis of KSS.
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Objective@#To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy.@*Methods@#Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children′s Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ2 test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group.@*Results@#Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ2=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066).@*Conclusions@#The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.
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Objective To investigate the clinical significance of different samples (the peripheral blood,urine and skeletal muscle) that could be detected the large-scale single deletions directly by using next-generation sequencing in the diagnosis of Kearns-Sayre syndrome (KSS) by concluding the clinical and genetic features of KSS,in order to explore a non-invasive method for diagnosis.Methods The clinical data,skeletal muscle's pathology and enzymology and genetic results of individuals with KSS,who were hospitalized from October 2016 to October 2017 in Department of Neurology,Beijing Children's Hospital,Capital Medical University,were collected.The gene tests were performed by using next generation sequencing technology and long-PCR technology of mitochondrial DNA(mtDNA) and the whole exon in the peripheral blood,urine and skeletal muscle.Results Four patients were all consistent with the diagnosis criteria of KSS,among whom the age of onset was 8.2 years old on average,and the initial symptoms were statue,ptosis,headache and vomiting,and visual impairment.The common symptoms of the 4 cases were ophthalmoplegia,exercise intolerance,development delay,loss of appetite,hypotonia,muscle weakness,with cerebrospinal fluid protein concentration over 1 000 mg/L,the cerebral magnetic resonance imaging showed that abnormal signals in the brainstem,in addition,white matter,thalamus,basal ganglia,cerebrum and cerebellum atrophy could be found.Moreover,3 cases had cardiac conduction block.Two cases had maternal family history.Molecular analysis of the 4 cases revealed the large-scale single deletions of mtDNA from the peripheral blood,the urine,the skeletal muscle through the nextgeneration sequencing,which were m.6460-15590(9 131 bp del),m.8482-13446(4 964 bp del),m.6831-14981 (8 151 bp del),m.7983-15495 (7 513 bp del),respectively.Among 3 cases who did pedigree analysis,only the mother of case 4 was detected with the same variation of the proband.Conclusions KSS is a rare mitochondrial disease,which could be detected with the single large scale mtDNA deletions in the peripheral blood,urine and skeletal muscle.With the development of the methodology,the diagnosis of KSS maybe no longer than depends on the muscle biopsy with the next-generation sequencing.And the possibility to get the positive results in the peripheral blood and urine by the non-invasive method could improve the molecular diagnosis of KSS.
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Objective@#To investigate the clinically and genetic characteristics of children with Leigh syndrome.@*Method@#Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis.@*Result@#Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation.@*Conclusion@#LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.
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Objective To explore the management of nursing adverse events based on JCI evaluation criteria, and to establish a voluntary, non-punitive nursing adverse event reporting system.Methods From January 2014 to December 2015, 680 hospital nurses implemented JCI standards, revision of nursing adverse events management system, created online of nursing adverse events reporting system, to all nursing staff of adverse event management knowledge training and improvement before the analysis of the implementation of the JCI standard, adverse event reporting process and treatment measures of awareness, took the initiative to report rate, nursing adverse events incidence, patient satisfaction rate.Results Before and after nursing staff of adverse event reporting procedure and disposal method of awareness to improve the rate of 39.43% implementation, nursing staff to take the initiative to report to enhance the rate of 7.54%,the incidence of nursing adverse events to reduce the rate of 0.07%,the patients' satisfaction rate increased by 6.15%,there were statistically significant differences(x2=13.50,10.15,12.09,231.51,all P<0.05).Conclusion Nursing adverse events management constructed based on JCI accreditation standards is helpful to avoid the occurrence of nursing adverse events, to improve the rate of patients' satisfaction to nursing, to create a secure hospital atmosphere.
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<p><b>OBJECTIVE</b>To explore the application value of next generation sequencing (NGS) in the diagnosis of mitochondrial disorders.</p><p><b>METHOD</b>According to mitochondrial disease criteria, genomic DNA was extracted using standard procedure from peripheral venous blood of patients with suspected mitochondrial disease collected from neurological department of Beijing Children's Hospital Affiliated to Capital Medical University between October 2012 and February 2014. Targeted NGS to capture and sequence the entire mtDNA and exons of the 1 000 nuclear genes related to mitochondrial structure and function. Clinical data were collected from patients diagnosed at a molecular level, then clinical features and the relationship between genotype and phenotype were analyzed.</p><p><b>RESULT</b>Mutation was detected in 21 of 70 patients with suspected mitochondrial disease, in whom 10 harbored mtDNA mutation, while 11 nuclear DNA (nDNA) mutation. In 21 patients, 1 was diagnosed congenital myasthenic syndrome with episodic apnea due to CHAT gene p.I187T homozygous mutation, and 20 were diagnosed mitochondrial disease, in which 10 were Leigh syndrome, 4 were mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome, 3 were Leber hereditary optic neuropathy (LHON) and LHON plus, 2 were mitochondrial DNA depletion syndrome and 1 was unknown. All the mtDNA mutations were point mutations, which contained A3243G, G3460A, G11778A, T14484C, T14502C and T14487C. Ten mitochondrial disease patients harbored homozygous or compound heterozygous mutations in 5 genes previously shown to cause disease: SURF1, PDHA1, NDUFV1, SUCLA2 and SUCLG1, which had 14 mutations, and 7 of the 14 mutations have not been reported.</p><p><b>CONCLUSION</b>NGS has a certain application value in the diagnosis of mitochondrial diseases, especially in Leigh syndrome atypical mitochondrial syndrome and rare mitochondrial disorders.</p>
Subject(s)
Child , Humans , DNA, Mitochondrial , Genetics , High-Throughput Nucleotide Sequencing , Homozygote , Leigh Disease , Mitochondrial Diseases , Diagnosis , Mitochondrial Encephalomyopathies , Mutation , Optic Atrophy, Hereditary, Leber , Phenotype , Point Mutation , Sequence Analysis, DNAABSTRACT
Objective To translate the Personal Diabetes Questionnaire(PDQ),and test the relia bility and validity of the Chinese version of PDQ.Methods Through forward translation,back translation,cultural adjustment,etc.,the Personal Diabetes Questionnaire (PDQ) was introduced to localize it.60 eligible patients with diabetes were selected in a tertiary hospital to make a preliminary investigation.The results were statistically analyzed in order to assess the reliability and validity of the Chinese version of PDQ.Results The Chinese version of PDQ had good reliability,whose total internal consistency coefficient was 0.831 and test-retest reliability was 0.801.The questionnaire has good validity.Total Content Validity Index was 0.938.I-CVI was between 0.800 and 1.000.The questionnaire's dimensions had good parallel validity with glycosylated hemoglobin (HbAlc) and body mass index (BMI).Conclusions The Chinese Version of the personal diabetes questionnaire has good reliability and validity,which can be widely used as the evaluation tool of diabetes self-management education.
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<p><b>OBJECTIVE</b>To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome (MDS) in one patient, and review the latest clinical research reports.</p><p><b>METHOD</b>Clinical, laboratory and genetic data of one case of SUCLA2-related encephalomyopathic MDS diagnosed by department of Neurology, Beijing Children's Hospital in November, 2013 were reported, and through taking "SUCLA2" as key words to search at CNKI, Wanfang, PubMed and the Human Gene Mutation Database (HGMD) professional to date, the clinical characteristics of 24 reported cases of SUCLA2-related encephalomyopathic MDS in international literature in combination with our case were analyzed.</p><p><b>RESULT</b>(1) The patient was 5 years and 9 months old, born as a term small for gestational age infant whose birth weight was 2 400 g, and presented since birth with severe muscular hypotonia, feeding difficulties, failure to thrive, psychomotor retardation and hearing impairment. Until now, he still showed severe developmental retardation, together with muscular atrophy, thoracocyllosis and scoliosis, and facial features. The patient is the first born from consanguineous healthy parents, whose relationship is cousins. Laboratory tests showed urinary excretion of mild methylmalonic acid (MMA), elevated plasma lactate concentration, and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling. MRI showed brain atrophy-like and bilateral T2 hyperintensities in bilateral caudate nuclei and putamen. By Next-Generation Sequencing (NGS), we identified a novel homozygous missense mutation (c.970G > A) in the SUCLA2 in a highly conserved amino acid residue. (2) The total number was only 25 with a male to female ratio of 14: 11, and age of onset of 23 was 0-4 months. The most common clinical features in patients with SUCLA2 mutation were permanent hypotonia, muscle atrophy, psychomotor retardation and scoliosis or kyphosis. Frequent signs included hearing impairment, hyperkinesia, dystonia or athetoid movements, feeding difficulties, growth retardation and ptosis or ophthalmoplegia. Epilepsy was occasionally observed. The combination of lactic acidemia, mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling were characteristic markers. MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei). Nineteen patients originated from Europe, with 13 of whom originated from Faroe Islands that carry a homozygous mutation (c.534+1G>A) in SUCLA2.</p><p><b>CONCLUSION</b>SUCLA2-related encephalomyopathic MDS is characterized by onset of severe hypotonia in early infancy, feeding difficulties, growth retardation, psychomotor retardation and hearing impairment. Metabolic findings usually include lactic acidemia, mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling. MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei). SUCLA2 pathogenic mutations would confirm the diagnosis.</p>
Subject(s)
Child , Female , Humans , Male , Carnitine , DNA, Mitochondrial , Genetics , Dystonia , Europe , Homozygote , Magnetic Resonance Imaging , Methylmalonic Acid , Mitochondrial Encephalomyopathies , Diagnosis , Genetics , Mutation , Succinate-CoA Ligases , Genetics , SyndromeABSTRACT
Objective To observe the efficacy of pioglitazone combined with repaglinide in the treatment of external insulin antibody (IAb)-positive patients with type 2 diabetic nephropathy.Methods 44 cases with IAb positive diabetes nephropathy were divided into the treatment group (22 cases) and control group (22 cases).The treatment group moved gradually insulin to pioglitazone 15 mg once daily add repaglinide 1 mg three times daily oral and gradually adjustment dose.The control group continued to use insulin treatment,a total of 12 weeks.Before and after treatment,blood sugar,blood fat,glycosylated hemoglobin,etc were detected.Results Mter treatment,the blood glucose,glycosylated hemoglobin,urine albumin and urine creatinine ratio of the treatment group were significantly decreased (all P ＜ 0.01),the above indicators had statistically significant differences compared with the control group at the same period (P ＜ 0.05).Conclusion Pioglitazone combined with repaglinide is an effective method for treatment of IAb positive type 2 diabetic nephropathy.
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ObjectiveTo investigate the effect of nursing intervention on sleep quality of patients after cardiac intervention. Methods140 patients undergoing cardiac interventional surgery in our hospital from January 2010 to January 2011 were chosen as the research object.They were divided into the observation group and the control group in accordance with the principle of randomization with 70 cases in each group.The control group was treated with conventional methods of nursing care of cardiology.The observation group was given with sleep- related nursing interventions on the basis of the routine care.The sleep quality score (PSQI)24 h and 1 week,2 weeks postoperation and treatment compliance 2 weeks postoperation were compared between the two groups. ResultsThe study showed that the PSQI score 24h postoperation showed no significant difference,but 1 week and 2 weeks after the operation,the score of the observation group was significantly lower than the control group.The full compliance rate in the observation group was significantly higher than the control group.The non-full compliance rate was significantly lower than the control group,the differences were statistically significantConclusionsNursing intervention can improve treatment compliance of patients,improve sleep quality of patients after cardiac intervention.It is conducive to the rehabilitation of patients and is worthy of clinical application.
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Objective To observe curative effect of acupuncture treating children acute upper respiratory infections (AURI).Methods According to random digits table,150 children from clinic emergency department were averagely bring into a acupuncture treatment group and a western medicine treatment group.Patients in the acupuncture treatment group received the treatments of acupunctureing one side of “SiGuan”points,bloodletting in apex satyri,and reducing temperature with tepid sponge bath; while patients in the western medicine treatment group received the treatments of taking ibuprofen suspension,using external pyretolysis patches on forehead,and reducing temperature with an alcohol sponge bath.After the treatment,the near future therapeutic effects:the time of pyretolysis,fevering again in 24 hours and convulsion time,and the prostecdtive efficacy:the time of cough continuing,AURI happening again in 3 months and recovery time of appetite were both observed.Results The time of pyretolysis,fevering again in 24 hours,convulsion time,the time of cough continuing,recovery time of appetite and AURI happening again in 3 months of acupuncture treatment group was(15.6±5.8) minutes,(12.7±3.3) hours,(0.6±0.1) times,(2.3±1.8) days,(2.4±1.6)days,and (35.2±3.9) days respectively; and the western medicine treatment group was (25.5±7.3) minutes,(8.6±4.1) hours,(2.1±0.5) times (6.2±2.4) days,(3.8±1.5) days,and (18.4±5.2) days respectively.Comparing between the two groups,P＜0.05.Conclusion Acupuncture can significantly decrease the time of pyretolysis,cough continuing,recovery time of appetite and convulsion time,and significantly increase the time of fevering again in 24 hours and AURI happening again in 3 months in patients with AURI.
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Objective To analyse the clinical situations and other factors that influence the PetCO2 monito-ring. The analysis can improve the nursing care for mechanical ventilated patients. Methods To retrospectively ana-lyze 212 PetCO2 monitoring ntanbers and capnograms in 108 mechanical ventilated patients. Results PetCO2 abnor-malities rate was 13.4%; leakage in the ventilator system was 30.4%; endotracheal tube malposition 6.8%; endo-tracheal tube baloon leakage 11.3%; secreations 22.4%; hyperventilation 12.5%; hypopeffusion 7.6%; hypoper-fusion of the lung 5.8%; mechanical malfunctioning 3.2%. Conclusions Continue monitoring of PetCO2 and cap-nogram along with hemodynamic monitoring in mechanical ventilated patients can timely find patients' problems and promptly use appropriate interventions. The understanding of these monitoring systems can improve the quality of the nursing care for the critically ill patients.