Calidad de vida en pacientes con enfermedad de Pompe: estudio observacional / Quality of Life in Patients with Pompe Disease: Cross-Sectional Study

Introducción: La enfermedad de Pompe es una enfermedad genética multisistémica y rápidamente progresiva, que causa compromiso muscular (esquelético, cardíaco y liso), severa hipotonía y dificultad en la deglución. Debido a la naturaleza de la enfermedad, la calidad de vida de las personas que la padecen puede verse más afectada con respecto a la población general. Método: Se llevó a cabo un estudio descriptivo de corte transversal. Se diseñó un instrumento tipo encuesta con preguntas de caracterización sociodemográfica y referentes a la enfermedad. Para medir la calidad de vida se aplicó el Medical Outcomes Study 36-Item Short Form (SF-36) Questionnaire. Se hizo una comparación entre grupos, con nivel de significancia de 0,05. Resultados: Se obtuvieron encuestas de 27 pacientes de seis países. La edad media fue de 40,52 años, el 59 % fueron mujeres, el 51 % casados, el 63 % activos laboralmente, con edad media de diagnóstico de 30,3 años (SD = 15,557). La dimensión con menor media fue el rol físico (10,2; IC 95 % = 1,5-21,9), mientras que la de mayor media fue la salud mental (65,5; IC 95 % = 56,9-74,0). El 29,7 % (IC 95 % = 11,2-48,0) de los encuestados consideró sentirse en peores condiciones de salud que el año anterior. Discusión: Se evidencia una baja calidad de vida en pacientes con EP, en comparación con la población general, si se tienen en cuenta otros estudios que utilizan el mismo cuestionario. Conclusiones: Se evidencia una baja calidad de vida en los pacientes con enfermedad de Pompe participantes; las dimensiones asociadas con parámetros físicos fueron las de menores puntuaciones.

Introduction: Pompe disease is a rapidly progressive, multisystemic genetic disease that causes muscle involvement (skeletal, cardiac and smooth), severe hypotonia and difficulty in swallowing. Due to the nature of the disease, the quality of life may be more affected compared to the general population. Method: A descriptive cross-sectional study was carried out. A survey-type instrument was designed with questions of sociodemographic characterization and those referring to the disease. To measure Quality of Life, the Medical Outcomes Study 36-Item Short Form (SF-36) questionnaire was applied. A comparison was made between groups with a significance level of 0,05. Results: 27 surveys of patients from six countries were obtained. The mean age 40.52 years, women 59 %, married 51 %, 63 % active in employment, with a mean age of diagnosis of 30.3 years (SD = 15,557). The dimension with the lowest mean was the Physical Role (10.2; 95 % CI = 1.5 - 21.9), while the one with the highest mean was the Mental Health dimension (65.5; 95 % CI = 56.9 - 74.0). 29.7 % (95 % CI = 11.2 - 48.0) of those surveyed considered they felt in worse health conditions than the previous year. Discussion: Low quality of life is evidenced in patients with PD in comparison to the general population described in other studies using the same questionnaire. Conclusions: A low quality of life is evidenced in the study individuals where the dimensions related to the physical area were lower.

Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas / Pompe's disease: History, epidemiology, pathophysiology and clinical manifestations

Introducción: La enfermedad de Pompe o glucogenosis tipo II pertenece al grupo de las miopatías metabólicas y es producida por la deficiencia parcial o total de la enzima alfa glucosidasa ácida. La ausencia/ déficit de esta enzima genera un almacenamiento de glucógeno en el interior de los lisosomas en diversos tejidos, incluidos el músculo esquelético, el miocardio y las células del músculo liso. Se trata de una enfermedad multisistémica que puede tener un inicio temprano o tardío de los síntomas. Contenidos: En este artículo se describirán los aspectos históricos de la enfermedad, su fisiopatología y sus manifestaciones clínicas, con el énfasis puesto en su inicio temprano o tardío. Conclusiones: Es necesario reconocer la enfermedad de Pompe debido a que esta patología es susceptible de tratamiento.

Introduction: Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset. Contents: In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described. Conclusions: It is necessary to recognize Pompe disease because this pathology is treatable.

Progress on the early screening for primary immune deficiency disease / 中华实用儿科临床杂志

Primary immune deficiency disease (PID), caused by a single gene mutation, is caused by the abnormal number and function of immune cells and molecules.PID patients are prone to repeated infection, accompanied by allergy, autoimmunity, auto-inflammation and malignant diseases.The mortality and disability rates of PID are very high.Early diagnosis and treatment are helpful to improve the prognosis.At present, existing screening methods for PID include newborn screening for severe combined immunodeficiency disease using the T cell receptor excision circle assay, screening for agammaglobulinemia using the immunoglobulin Kappa recombining excision circle assay, screening for adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency using the tandem mass spectrometry, screening for specific protein defects using the proteomics, and screening for genetic variates using the next-generation sequencing.This review briefly summarized the current newborn screening technologies for PID, thus providing references for the development of screening PID in the future.

Analysis of surveillance results of iodine deficiency disorders in Fuzhou City, Jiangxi Province from 2017 to 2019 / 中华地方病学杂志

Objective:To analyze the surveillance results of iodine deficiency disorders in Fuzhou City, Jiangxi Province, so as to master the iodine nutrition level of key population and evaluate the prevention and treatment effect of iodine deficiency disorders in the city.Methods:From 2017 to 2019, counties (districts) under the jurisdiction of Fuzhou City in Jiangxi Province were divided into five sampling areas (east, west, south, north, and central). A township was selected in each area, and a primary school was selected in each township. Forty children aged 8 to 10 were elected in each primary school. At the same time, 20 pregnant women were selected from each area. Home salt samples and urine samples of children and pregnant women were collected to determine the contents of salt iodine and urinary iodine, and the thyroid of children was examined by B-mode ultrasonography.Results:A total of 6 001 salt samples from children's homes were tested. The median iodine content of children's home salt samples was 24.60 mg/kg, the coverage rate of iodized salt reached 99.77% (5 987/6 001), and the edible rate of qualified iodized salt was 96.20% (5 773/6 001). A total of 3 000 salt samples from pregnant women's homes were tested. The median iodine content of pregnant women's home salt samples was 24.81 mg/kg, the coverage rate of iodized salt reached 99.97% (2 999/3 000), and the edible rate of qualified iodized salt was 96.97% (2 909/3 000). A total of 6 001 children's urine samples were tested, and the median urinary iodine was 172.23 μg/L. A total of 3 000 pregnant women's urine samples were tested, and the median urinary iodine was 178.35 μg/L. The rate of goiter in children was 1.00% (8/800) in 2017, 1.33% (8/600) in 2018, and 1.12% (9/800) in 2019.Conclusion:The iodine nutrition level of children and pregnant women in Fuzhou City of Jiangxi Province is suitable and meets the requirements of iodine deficiency disorders elimination standard.

Research progress of iodine deficiency during pregnancy / 中华地方病学杂志

Iodine is widely present in nature and it is one of the essential trace elements for human body. Iodine affects normal growth, development and metabolism of human body by participating in the synthesis of thyroid hormones. Iodine deficiency affects nearly 1.9 billion people worldwide and it is one of the health problems of global concern. As a special group, pregnant women are the focus group of iodine deficiency. Iodine deficiency during pregnancy will not only lead to thyroid dysfunction, endemic cretinism, but also irreversibly affect fetal brain development, resulting in infant mental retardation and growth retardation. This article summarizes the research progress of iodine deficiency during pregnancy, focusing on the hazards and evaluation index of iodine deficiency during pregnancy, and provides reference for future research priorities of iodine deficiency during pregnancy.

A healthy neonate born at the third pregnancy of a woman with ornithine carbamoyltransferase deficiency under multidisciplinary management / 中华围产医学杂志

We reported a women with omithine carbamoyltransferase deficiency who delivered a healthy boy after two pregnancies with adverse outcome with the help of a multidiscipline team.The woman was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine with an acute prenatal hyperammonemic episode at 28 gestational weeks of her first pregnancy in 2013 and was diagnosed with ornithine transcarbamylase deficiency.Her hyperammonemic complications were controlled under a well-planned multidisciplinary management including a low-protein diet and appropriate medications assisting nitrogen removal.A boy was delivered by cesarean section at 32 weeks of gestation but died three days later.Mutation analysis revealed a hemizygous c.583G＞A (G195R) mutation in the neonatal omithine carbamyltransferase gene and his mother was a heterozygous carrier with the same mutation.Two years later in 2015,the patient was pregnant spontaneously.However,she received an induced abortion at 21 weeks of gestation because amniocentesis and DNA analysis showed that the male fetus had the same omithine transcarbamylase gene mutation.The index pregnancy was assisted by in vitro fertilization-embryo transfer and preimplantation genetic diagnosis in 2017 and the woman delivered a healthy boy with the management ofa multidisciplinary team.

Analysis of monitoring results of iodine deficiency disorders in Hubei Province in 2016 / 中华地方病学杂志

Objective To analyze the status of iodine nutrition after implementing new standard of iodized salt in Hubei Province,and to evaluate the effectiveness of prevention and control measures.Methods In 2016,in 103 counties (cities,districts) of Hubei Province,the townships (streets) under the jurisdiction of each county (city,district) were divided into five regions:east,south,west,north,and middle.One township (street) was selected from each region,and one primary school was selected from each township (street).From each primary school 40 children aged 8-10 (half males half females) were selected to collect salt samples from their households.Twenty pregnant women from townships (streets) near the selected schools were chosen to collect edible salt samples from their households.According to the method of population proportionate sampling (PPS),35 counties (cities,districts) were chosen from 103 counties (cities,districts).Thyroid volume of children aged 8-10 was examined,and urinary iodine of children and pregnant women were tested.Iodine nutrition criteria:the median urinary iodine of children ＜ 100 μg/L is iodine deficiency,100-＜ 200 μg/L is iodine appropriate,200-＜ 300 μg/L is iodine overdose,≥300 μg/L is iodine excess;pregnant women urinary iodine median ＜ 150 μg/L is iodine deficiency,150-＜ 250 μg/L is iodine appropriate,250-＜ 500 μg/L is iodine overdose,and ≥ 500 μg/L is iodine excess.Results Totally 30 967 edible salt samples from children's and pregnant women's households were examined,and the median of salt iodine was 23.85 mg/kg.The coverage rate of iodized salt was 99.46％ (30 799/30 967),the consumption rate of qualified iodized salt was 94.00％ (29 108/30 967).Totally 6 789 children aged 8-10 were examined thyroid volume and detected urinary iodine,the goiter rate was 0.85％ (58/6 789) and the median urinary iodine was 263.54 μg/L.Totally 3 348 urine samples of pregnant women were examined,and the median urinary iodine was 166.71 μg/L.Conclusions The salt iodine content of residents and the goiter rate of children in Hubei Province meet the national standard for eliminating iodine deficiency disorders.The iodine nutrition level of children and pregnant women is iodine appropriate or iodine overdose.The iodine nutrition level monitoring of key populations should be continuously strengthened.

Clinical research of two cases of late-onset ornithine carbamoyltransferase deficiency / 中华神经科杂志

Objective To explore the clinical characteristics of late-onset ornithine carbamoyltransferase deficiency (OTCD) in order to improve the clinicians' understanding of this disease.Methods The clinical,therapeutic and follow-up data of two patients with late-onset OTCD diagnosed in the Department of Neurology,Qilu Hospital of Shandong University from November 2017 to February 2018 were collected and analyzed.Results Case 1 is a 17-year-old male who was admitted into Qilu Hospital with recurrent dizziness and vomiting for 4 months,sudden mental abnormality and convulsion for 3 days.The liver dysfunction,respiratory alkalosis and hyperammonemia (434 μmol/L) had been found before his admission.His blood ammonia fluctuated obviously from 180 μ mol/L to 2998 μmol/L,though he was given hemodialysis and arginine infusion,and died on the fourth day after admission.Case 2 is a 15-year-old male,complained with recurrent dizziness,vomiting,bluntness and somnolence for 20 days.He was found with hyperammonemia (600 μmol/L) and liver dsyfunction in a local hospital.He was getting better after intravenous administration of arginine and liver protective drugs.After admission,the blood ammonia,liver function and amino acids,acylcarnitine profiling in dried blood spots,and organic acid analysis in urine were normal,and he has not recurred since restriction of protein diet.Brain magnetic resonane imaging of both patients showed cytotoxic edema of bilateral frontal lobe and insular cortex,and their genetic detection both showed c.119G＞A(p.R40H) hemizygous pathogenic mutation of OTC gene inherited from their respective mothers.Conclusion Unexplained hyperammonemia and acute encephalopathy with insular and frontal cortical involvement should be on the alert to the urea cycle disorders,especially OTCD.Early diagnosis and reasonable treatment are the key to changing the prognosis.

A big picture view of precision nutrition: from reductionism to holism / 한국영양학회지

PURPOSE: This review describes the historical changes in nutrition philosophy from a reductionist to a holistic approach during the 20th century. Also, the role and efficient use of a holistic approach to precision nutrition are discussed. RESULTS: Over the past century, significant progress has been made in human nutrition research, unraveling fundamental mechanisms of single nutrients on single targets or pathways. This kind of a reductionist approach has helped to save populations from nutrient deficiency diseases and improve associated health outcomes in large parts of the world. However, a new set of nutrition problems, like obesity and diet-related chronic diseases, are growing each year worldwide, increasing the financial burden on the health care system. A linear cause-effect association between single nutrients and a single physiologic effect, is insufficient to solve the complex nutrition-health relationships. Research that involves a more holistic rather than reductionist approach is needed to tackle a new set of nutrition problems. Recent advances in technology, informatics, and statistical methods are enabling an understanding of the diversity of individuals and the complex interactions between foods and human bodies, leading to the concept of “precision nutrition.” CONCLUSION: The emerging goal of precision nutrition is to provide tailored dietary advice for maintaining health and preventing obesity and diet-related chronic diseases. The parts are already being installed. To grab the complexity, reductionism and holism must be used interdependently.

Analysis of surveillance results on iodine deficiency disorders in Jiangsu Province in 2014 / 中华地方病学杂志

Objective To investigate the current status of iodine deficiency disorders (IDD) in Jiangsu Province and to evaluate the effects of preventive and control measures on IDD in Jiangsu Province in 2014.Methods With the use of probability proportional to size sampling method (PPS),30 counties (cities,districts)in Jiangsu Province were selected.Only 1 primary school was selected in each county (city,district) and 50 students of 8-10 years old (halt male and half female,uniformly distributed in age groups) were selected in each school.Goiter,salt iodine,urinary iodine,height and weight were examined.Thirty students from Grade 5 in each school were selected at random,and health education questionnaire survey was conducted.In the area where the primary school located,5 housewives were selected and a questionnaire survey was conducted.Two-5 drinking water samples from the village where the primary school located were collected and the water iodine concentration was tested.Urine samples and salt samples from 20 pregnant women and 10 lactating women in the village where the primary school located were collected,and urinary iodine and salt iodine were detected.Thyroid volume was measured by palpation method and ultrasound.Urinary iodine was detected by arsenic cerium catalytic spectrophotometry (WS/T 107-2006).The iodine level in salt was determined by direct titration;the salt samples from Sichuan and other enhanced salt were detected by arbitration (GB/T 13025.7-1999).Water iodine was tested using the method suitable for iodine deficiency and high iodine areas (recommended method of reference laboratory of national iodine deficiency disorders).Results A total of 1 524 children aged 8-10 years old were examined.Forty-two children had goiter by palpation method and the goiter rate was 2.76％ (42/1 524).Forty-one children had goiter by ultrasound and the goiter rate was 2.69％ (41/1 524).Totally 1 523 urine samples of children aged 8-10 years old were tested and the median of urinary iodine was 208.03 μg/L.A total of 1 524 salt samples were tested,the coverage rate of iodized salt was 97.44％ (1 485/1 524) and the qualified rate of iodized salt was 96.43％(1 432/1 485).The consumption rate of qualified iodized salt was 93.96％(1 432/1 524) and the consumption rate of non-iodized salt was 2.56％(39/1 524).The rates of knowledge awareness about IDD among students and housewives were 81.36％ (2 287/2 811)and 91.18％ (424/465),respectively.Sixty drinking water samples were collected and the median of water iodine was 16.83 μg/L.Six hundred urine samples of pregnant women and 304 urine samples of lactating women were tested.The median of urinary iodine was 155.16 and 138.33 μg/L,respectively.Conclusions After achieving the goal of eliminating IDD,the control effect in Jiangsu Province is sustainable.The crowd's risk of iodine deficiency has declined significantly.

Hematologic manifestations of immunodeficiency disease / 中华实用儿科临床杂志

Some of the clinical manifestation of primary immunodeficiency disease in children is similar with that of hematological system diseases in children.It would result into the change of one or multiple lines of blood cells, which would lead to infection or malignant tumors.To strengthen the awareness of the hematologic manifestations of immunodeficiency diseases will be beneficial for doctors in the diagnosis of diseases,judgment of complication and prog-nosis.

Déficit de ornitina transcarbamilasa: Caso clínico / Ornithine carbamoyltransferase deficiency: A clinical case

Los trastornos del ciclo de la urea suponen hasta el 60% de las hiperamoniernias graves neonatales. La base de los trastornos de este ciclo deriva en el déficit de una de sus enzimas. El déficit de la enzima ornitina transcarbamilasa es el más frecuente. Su pronóstico dependerá del grado de deficiencia enzimàtica, la edad, la precocidad del diagnóstico e inicio del tratamiento. Presentamos el caso de un adolescente que, a partir de un cuadro de parálisis facial periférica tratado con prednisona, presentó agravamiento de su estado general y falleció a los pocos días. Las cifras elevadas de amoniaco en sangre hicieron sospechar tardíamente de una alteración congénita del ciclo de la urea, que fue confirmada por su estudio genético post mortem. Se estudiaron los familiares y se asesoró a los afectos y portadores. Reflexionamos sobre la importancia de los programas de cribado neonatal y la posibilidad de aplicarlos en la detección de los errores congénitos del metabolismo.

Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.

Report of a survey results of iodine deficiency disorders in Lianyungang, Jiangsu Province in 2013 / 中华地方病学杂志

Objective To investigate the current status of iodine deficiency disorders in Lianyungang,Jiangsu Province,and to evaluate the effectiveness of prevention and control measures.Methods Using population probability proportional to size sampling method (PPS),in Lianyungang City,30 townships (towns) were selected,one primary school was selected in each township (town),fifty 8-10 years old students (half male and half female,uniformly distributed in age groups) were selected in each school,and goiter was examined; one random urine sample was collected to survey the urinary iodine content; household salt sample was collected to survey the salt iodine content.At the same time,30 students from Grade 5 in each school were selected,and health education questionnaire survey was conducted.In the village where the primary school located,5 housewives were selected and a questionnaire survey was conducted; salt samples were collected and salt iodine level was tested by semi quantitative detection on site; 2-5 drinking water samples were collected and the water iodine level was determined in the village.One random urine sample from twenty pregnant women and 10 lactating women in the township (town)was selected and urinary iodine was determined.The goiter was examined by palpation; urinary iodine was detected by arsenic cerium catalytic spectrophotometry (WS/T 107-2006); salt iodine was detected by direct titration,Sichuan salt and other fortified edible salt were tested by arbitration law (GB/T 13025.7-2012); water iodine was detected by the method suitable for iodine deficiency and high iodine areas (recommended method of reference laboratory of national iodine deficiency disorders).Results One thousand and five hundred children aged 8-10 years old were examined by palpation,18 children had goiter,and the goiter rate was 1.20％ (18/1 500).One thousand and five hundred urine samples of children aged 8-10 years old were tested,and the median of urinary iodine was 239.62 μg/L.A total of 1 500 salt samples were tested; the coverage rate of iodized salt was 96.73％ (1 451/1 500); the rate of qualified iodized salt was 93.53％ (1 403/1 500); and the non-iodized salt rate was 3.27％ (49/1 500).The number of question of the questionnaire survey of health education about iodine deficiency disorders among students and housewives was 2 697,450; the number of correct answer was 2 542,410; the pass rates were 94.25％ and 91.11％,respectively.Sixty-six drinking water samples were collected,water iodine median was 13.5 μg/L.Six hundred and one,two hundred and ninety-eight urine samples of pregnant women and lactating women were monitored,and the median of urinary iodine was 176.12 and 150.03 μg/L,respectively.Conclusion The status of iodine nutrition among residents in Lianyungang City has improved,the control effect of iodine deficiency disorders is significant,and the achievements are stable.

Multidisciplinary perinatal management of a woman and her baby with ornithine transcarbamylase deficiency / 中华围产医学杂志

Objective To investigate the clinical features and gene mutation of a newborn with neonatal-onset ornithine transcarbamylase deficiency (OTCD) and report the multidisciplinary perinatal management of the mother with late-onset OTCD.Methods The clinical features,biochemical data and the treatment of a newborn boy with OTCD and his mother admitted by Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in April,2013,were collected.The ornithine transcarbamylase (OTC) gene in the family was analyzed.Results Serum ammonium in the male newborn gradually increased to 1 020 μ mol/L at 48 h after birth.His blood amino acids level and urine organic acid level showed a pattern indicative of OTCD [blood arginine (97.43 μ mol/L,reference 1.00-25.00 μ mol/L),citrulline (27.43 μ mol/L,reference 4.00-30.00 μ mol/L),ornithine (161.66 μ mol/L,reference 10.00-120.00 μ mol/L) and methionine (70.45 μ mol/L,reference 10.00-50.00 μ mol/L); urine uracil (67.11 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (1 372.66 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol Crea)].DNA studies revealed a c.583G ＞ A (G195R) homozygous mutation of the OTC gene.His mother was heterozygous for OTCD and developed acute hyperammonemia during pregnancy.Her blood showed a normal-leveled arginine (8.44 μ mol/L,reference 1.50-25.00 μ mol/L),a normal-leveled citrulline(8.41 μ mol/L,reference 7.00-35.00 μ mol/L),an elevated glutamate(279.15 μ mol/L,reference 45.00-200.00 μ mol/L).Her urine uracil (51.55 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (38.75 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol) were elevated.Successful management of her prenatal and postpartum blood ammonia level was achieved after administration of pharmacologic nitrogen scavengers and protein limitation.DNA studies revealed a c.583G ＞ A (G195R) heterozygous mutation in the newborn's mother and grandmother.Conclusions General management on pregnant OTCD women is effective.Male newborn patients often have a poor prognosis.

An analysis of surveillance data of iodine deficiency disorders in Jiangxi Province in 2011 / 中华地方病学杂志

Objective To analyze the monitoring data of iodine deficiency disorders in Jiangxi Province and to provide a basis for adjusting iodized salt concentration.Methods Thirty primary schools were selected in 30 counties and 40 pupils' goiters were examined with B ultrasound in every school.At the same time,salt iodine level was tested at their home.Twelve pupils urinary iodine in selected schools,15 pregnant urinary samples,15 lactating women urinary samples in 3 towns around the schools and water samples in the counties with the schools were collected.Results The goiter rate of children aged 8 to 10 was 1.25％ (15/1 200); the median salt iodine was 30.80 mg/kg and the consumption rate of qualified iodized salt was 96.92％ ; the median urinary iodine level of children,pregnant and lactating women was 308.73,206.95 and 206.75 μg/L,respectively.The proportion of urinary iodine level of children above 300 μg/L was 52.25％(186/356),while the proportion of urinary iodine level of pregnant women below 150 μg/L was 34.81％(157/451).The water iodine median was 4.62 μg/L and the per capita daily salt intake was 13.20 g in Jiangxi Province.Conclusions The status of iodine deficiency in Jiangxi has been significantly improved.According to the monitoring results,it's necessary to adjust salt iodization standards appropriately.

Clinical analysis of gum bleeding caused by acquired factor XIII deficiency disease / 实用口腔医学杂志

Acquired factor XIII deficiency disease is rare.One case with gum bleeding as the first symptom caused by acquired factor XIII de-ficiency disease was encountered.The case was analyzed and relevant literatures were reviewed.

Iodine deficiency disorders in Sanya in 2011: an analysis of a survey results / 中国地方病学杂志

Objective In order to understand the Sanya of iodine deficiency disorders(IDD) prevention and cure,and to provide a scientific basis for formulating corresponding control measures.Methods According to the requirements of Iodine Deficiency Disorders Monitoring Program,one townships(districts) in Sanya of Hainan in 2011 were selected based on their positions of east,south,west,north and center,respectively.Four administrative villages in each township(district) were selected in the same way.Fifteen salt samples,8 urine samples of women of childbearing age and 1 drinking water sample from each adninistrative village were collected.In the primary school of each township(district),40 students aged 8 to 10 were selected to check up their thyroid,test their intelligence quotient (IQ) and urinary iodine.Thirty three fifth-grade students in each of the primary schools were selected to launch a questionnaire survey of health education knowledge and test(semiquantitative test) their household edible salt.Salt iodine was detected by direct titrimetry; urinary iodine and water iodine were detected by As-Ce catalytic spectrophotometry; and children's IQ values were measured using the Combined Raven Test (CRT) in rural edition.Results Totally 300 salt samples were tested,and the median salt iodine was 31.0 mg/kg.The iodized salt coverage rate was 96.67％ (290/300),and the consumption rate of qualified iodized salt was 96.00％ (288/300).Totally 200 urine samples were tested,and the median urinary iodine was 194.6 μg/L;and the range of urinary iodine was between 18.50 μg/L and 655.10 μg/L,the proportions of less than 50 μg/L and between 50 μg/L and ＜ 100 μg/L were 4.00％ (8/200) and 13.50％ (27/200),respectively.A total of 200 children were examined by palpation,and the goiter rate was 1.00％(2/200).Mean IQ value of the students was 97.66 and there were 8 students whose IQ values were lower than 69 and 20 students whose IQ values were between 70 and 79.The average score was 3.24 of the 165 students who took part in the questionnaire survey of health education knowledge.There were 43 students who failed in the exam,and the failed rate was 26.06％.The coverage rate of iodized salt in household was 96.36％ (159/165).The median of urinary iodine of the 160 women of childbearing age was 162.95 μg/L,the range of urinary iodine were between 9.50 μg/L and 908.80 μg/L,and the proportion of less than 100 μg/L was 19.38％ (31/160).The consumption rate of eligible iodized salt was 96.90％ (155/160).The levels of water iodine of the 20 water samples from the 5 townships(districts) were all less than 10.0 μg/L.Conclusions Sanya is still in the area lack of iodine in the environment.In general Sanya has reached the goals of elimination of iodine deficiency disorders,but there are still some of the children and women of childbearing age who are iodine deficient.

The evaluation report for restoration and reconstruction of endemic disease prevention needed in areas severely hit by the earthquake in Shaanxi province / 中国地方病学杂志

Objective To evaluate the effect of endemic disease prevention in Shaanxi province caused by earthquake and supply a scientific basis for making decision regarding restoration and reconstruction after the earthquake.Methods Forty different drinking water samples were collected respectively from Mianxian county and Chencang district the earthquakes'most severely hit areas in Shaanxi province with drinking-water-borne fluorosis.The contents of fluorine and arsenic in the water was detected by Fluoride ion-selective electrode and hydride generation atomic fluorescence spectrometry,respectively.Two hundreds iodized salt and urine samples were collected from affected household women aged 18-45 in severely hit Ningqiang and Lveyang countie with iodine deficiency disorders.The contents of iodine in the salt was detected by semi-quantitative and of urinary iodine of household women was determined by AsⅢ-Ce4+ catalytic spectrophotometry.Two hundred children aged 7-12 were detected by clinical and X-ray examination from Ningqiang and Lveyang counties of Kashin-Beck disease prevailing areas.Hair and food samples from 20 children were collected.The contents of selenium were determined by 2,3-Diamino naphthalene fluorescence spectrophotometry and of T-2 toxin in the food was detected by ELISA.Results No incidents of serious hydrologieM or geological damage were found.Fluoride content in one of eighty water samples was beyond 1.5 mg/L,accounting for 1.25%;five samples were between 1.0 mg/L and 1.5 mg/L,accounting for 6.25%:the arsenic content of all samples were below 0.01 mg/L;all the salt samples from the home of household aged 18-45 were iodine salt,the median of urine iodine of household wonlen Was 303.03μg/L (21.40-1133.54 μg/L) and 325.21 μg/L(27.61 - 1191.46 μg,/L) in Ningqiang and Lveyang counties, respectively.No clinical and X-ray patients were found in the children aged 7 - 12, the average content of selenium in hair was (0.2638 ± 0.0875)mg/kg; the content of T-2 toxin in the forty food samples was below 100 μg/kg. Conclusions The prevention of the endemic disease in the four counties has been moderately affected by the earthquake, but the situation of endemic disease is stable and there is no evidence of the endemic disease.

An analysis of the intelligence level of children born in different time periods after iodized salt was supplied in regions with iodine deficiency in Liaoning province / 中国地方病学杂志

objecfive To know and compare the intelligence level of children born in different time periods in regions with iodine deficiency disorders(IDD)in Liaoning province.Methods All 7-14 year-old children from ten schools were chosen as the subjects respectively from six villages in each of the six counties and in regions with iodine deficiency,who were respectively born at the initialization of iodinated salt supplying period(1978-1980);non-iodinated salt supplying period(1981-1990);recovery of supplied iodized salt period(1991-1995);universal iodized salt period(1996-2000),respectively.Intelligence quotient(IQ)was measured by Combined Ravens Test in China(CRT-C)and Combined Ravens Test-the Rural,in China,2nd edition(CRT-RC2).Results IQ of children during the non-iodized salt period(91.9±14.3)was significantly lower than the initial supply of iodized salt period(95.8±14.6,q=8.60,P<0.01),recovery of supplied iodized salt period(99.7±14.7)was significantly higher than the initial supply of iodized salt period, non-iodized salt sales period(q = 9.53, 18.13, all P < 0.01 ),universal salt iodization( 104.3 ± 14.9) was significantly higher than the initial supply of iodized salt period, non-iodized salt sales period, recovery of supplied salt iodization(q = 20.00,28.00,10.46, all P < 0.01). Children's rate of mental retardation (IQ≤69) was higher in non-iodinated salt supplying period (6.7%, 88/1314 ) than the initial supply of iodized salt (4.4%, 21/471, χ2 = 3.85, P < 0.05), recovery of supplied iodized salt period(3.3%,48/1470) was significantly lower than non-iodinzed salt supplying period (χ2 = 15.37, P < 0.01), universal salt iodization period(2.7%, 36/1344) was lower than the initial supply of iodized salt period(χ2 = 4.41, P < 0.05) and non-iodinzed salt supplying period(χ2 = 26.34, P < 0.01 ). The IQ and intelligent retarded rates in children born during the initial years of iodinated salt supplying period were not different. The IQ of the children during ten years of non-iodized salt supplying period fluctuated in a "∪" curve, while the intelligent retardation rates in a "∩" curve.The children born during the period of recovery supplied iodized salt increased their IQ and lowered the retardation rates year after year. The IQ of the children in universal iodized salt period kept on increasing while intelligent retarded rates reduced to the lowest level. Conclusions The intelligence level of children born in regions with IDD during non-iodized salt supplying period is remarkably lower than that of the beginning years of iodinated salt supplying period. The intelligence level of children born after universal iodized salt period is remarkably higher than that of the initial iodinated salt supplying period and recovery of supplied iodized salt period, respectively.

Bocio endémico difuso / Diffuse endemic goiter

La deficiencia de yodo constituye uno de los flagelos más terribles que sufre la humanidad en gran parte del planeta, sobre todo en los países menos desarrollados. Se estima que 1 600 millones de personas, aproximadamente el 30 % de la población mundial, viven en zonas con riesgo de desarrollar alguno de los trastornos por deficiencia de yodo. De ellos, 665 millones están afectados de bocio y 5,7 millones de cretinismo, una de las formas de retraso mental más profundo y devastador y más fácilmente evitable. En Pakistán, país del sudeste asiático con montañas elevadas y pertenecientes al tercer mundo, las enfermedades del tiroides son muy frecuentes, por lo que se decide presentar 2 casos con diagnóstico presuntivo de enfermedad por déficit de yodo, proveniente de una aldea donde se observa una incidencia de bocio por encima del 10 %.

Iodine deficiency is one of the most terrible scourges suffered by humanity in a big part of the world, mainly in the less developed countries. It is estimated that 1 600 million people, approximately 30 % of the world population, live in zones at risk for developing someof the disorders caused by iodine deficiency. Of them, 665 millions are affected by goiter and 5.7 by cretinism, one of the deepest and most devastating forms of mental retardation that may be easily avoided in Pakistan, a country of the Asian southeast region with high mountains that is part of the Third World, goiter diseases are very common That's why, it was decided to present 2 cases with presumptive diagnosis of iodine deficit disease from a village where there is a goiter incidence above 10 %.