Prevalencia y factores relacionados con desnutrición en la primera infancia. Colombia año 2018 a 2020

La desnutrición como enfermedad de origen social es la expresión última de la situación de inseguridad alimentaria y nutricional de una población, al afectar principalmente a los niños. El objetivo fue analizar la prevalencia y factores relacionados con la desnutrición en la primera infancia en Colombia durante los años 2018 a 2020, mediante un estudio cuantitativo descriptivo de tipo ecológico - exploratorio, con recolección de datos retrospectivos a partir de reportes obtenidos del Sistema Integrado de Información de la Protección Social. El total de casos corresponde a 43.823 reportes, la prevalencia para los tres años fue de 1,13% principalmente en los departamentos de Guajira (n: 3.488; 3,17%) y Boyacá (n: 1.277; 1,39%), mayor número de casos presentados en el sexo masculino (n: 23.804; 54,3%), en edad entre 0 y 1 año (n: 17.099; 39,0%), pertenecientes al régimen subsidiado (n: 28.814; 65,75%) y ubicados en la cabecera municipal (n: 28.114; 64,15%). Con relación a la pertenencia étnica la mayor frecuencia se evidencia en "otras etnias" (n: 33.050; 75,42%), seguido de la etnia indígena (n: 8.348; 19,05%) y el estrato socioeconómico más representativo es el "bajo-bajo" (n: 17.620; 40,21%). Además, existe relación entre el sexo masculino y la desnutrición, comportándose como un factor de riesgo, y el vivir en centro poblado disminuye la probabilidad de presentar desnutrición. Se evidenció una frecuencia significativa de características asociadas a los determinantes sociales en salud y variables específicas relacionadas con la desnutrición.

Malnutrition as a disease of social origin is the ultimate expression of the situation of food and nutritional insecurity of a population, mainly affecting children. The objective was to analyze the prevalence and factors related to malnutrition in early childhood in Colombia during the years 2018 to 2020, through a descriptive quantitative study of an ecological-exploratory type, with retrospective data collection from reports obtained from the Integrated System of Social Protection Information. The total number of cases corresponds to 43,823 reports, the prevalence for the three years was 1.13%, mainly in the departments of Guajira (n: 3,488; 3.17%) and Boyacá (n: 1,277; 1.39%). greater number of cases presented in males (n: 23,804; 54.3%), aged between 0 and 1 year (n: 17,099; 39.0%), belonging to the subsidized regime (n: 28,814; 65.75%) and located in the municipal seat (n: 28,114; 64.15%). In relation to ethnicity, the highest frequency is evidenced in "other ethnic groups" (n: 33,050; 75.42%), followed by the indigenous ethnic group (n: 8,348; 19.05%), and the most representative socioeconomic stratum is the "low-low" (n: 17,620; 40.21%). In addition, there is a relationship between the male sex and malnutrition, behaving as a risk factor, and living in a populated center decreases the probability of presenting malnutrition. A significant frequency of characteristics associated with the social determinants of health and specific variables related to malnutrition was evidenced.

Neonatal D-bifunctional protein deficiency: a report of two cases and literature review / 中华围产医学杂志

Objective:To summarize the clinical characteristics and genetic etiology of infants with D-bifunctional protein deficiency (DBPD).Methods:This study involved two DBPD newborns who were hospitalized in the Second Affiliated Hospital of Wenzhou Medical University in August 2020 and November 2020. Clinical data including manifestations, radiographic findings and genetic testing results were retrospectively analyzed. Relevant articles up to November 2022 were retrieved from various databases including CNKI, Wanfang, CQVIP, Online Mendelian Inheritance in Man and PubMed using the terms of "D-bifunctional protein deficiency" and " HSD17B4" in both Chinese and English. Clinical data of the cases diagnosed with DBPD by genetic testing within two years of age were collected. Clinical features and genetic etiology of the children with DBPD were summarized by descriptive statistical analysis. Results:Both neonates in this report presented with dyspnea, hypotonia, intractable epilepsy, poor response, absence of primitive reflexes, and craniofacial malformation. Whole-exome sequencing revealed that patient 1 carried heterozygous variations of c.972+1G>T and c.727T>A (p.W243R) in the HSD17B4 gene, which were inherited from his father and mother, respectively. A homozygous variation of c.1333+4A>G in the HSD17B4 gene was identified in patient 2. All these mutations were pathogenic. Thirteen papers (12 in English and one in Chinese) involving 19 patients from 16 pedigrees were retrieved. Altogether 21 patients (eight males and 13 females) were included, and among them, four from two pedigrees were born to consanguineous parents. There were 21 patients with hypotonia, 20 with epileptic seizures (17 presenting with epileptic seizures within 5 d after birth) and 12 with craniofacial deformities including high forehead, long philtrum and high palatine arches. Genetic tests showed that 13 patients carried compound heterozygous variations in the HSD17B4 gene and eight patients had homozygous variations. Twenty-six variations in the HSD17B4 gene were detected, including 16 missense mutations, seven splicing mutations, two nonsense mutations and one frameshift mutation. Conclusion:DBPD should be considered and genetic tests should be given when newborns have dystonia and intractable epilepsy complicated by appearance deformity.

Screening strategy and genetic mutation analysis of citrin deficiency among newborns in Xuzhou / 中国新生儿科杂志

Objective:To study the incidence, clinical features and genetic mutation profiles of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) using screening strategy.Methods:From September 2015 to September 2020, neonates in Xuzhou area were prospectively screened for genetic metabolic diseases using tandem mass spectrometry. Suspected infants were further confirmed using urinary organic acid test and SLC25A13 gene mutation analysis. The clinical manifestations, biochemical and gene mutation results, treatment and prognosis of the confirmed cases were analyzed.Results:A total of 468,494 live-birth newborns were screened with 112 cases suspected and 95 cases received urinary organic acid test and SLC25A13 gene mutation analysis. 13 cases of NICCD were diagnosed with a prevalence of 1/36,038. Most confirmed cases presented with delayed disappearance of neonatal jaundice, feeding difficulties and poor weight gain. Biochemical changes included increased bile acid, abnormal liver enzymes, increased alpha-fetoprotein, hypoglycemia, decreased hemoglobin, abnormal coagulation function and increased blood ammonia. Tandem mass spectrometry showed increased citrulline, methionine, arginine, tyrosine and phenylalanine, and in some cases with slightly increased acylcarnitine. Urine organic acid analysis mainly showed increased 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvate. All confirmed cases received genetic mutation tests and a total of 13 mutation loci were detected, including c.852_855delTATG, c.511dupG, c.1638_1660dup, IVS16ins3kb, c.1078C>T, c. 615+5G>A, c.742G>A, c.44G>A, c.1311+1G>A, c.1399C>T, c.889G>T, c.1177+1G>A, c.1841+3_1841+4del, among which, c.852_855delTATG was the most common one. A total of 5 novel mutation loci were discovered in this study with c.1841+3_1841+4del, c.511dupG and c.889G>T predicted as pathogenic variants. Special formula of lactose-free and fortified medium-chain triglyceride (MCT) were used in confirmed cases and most of the symptoms were relieved within 1 year and abnormal indicators significantly improved.Conclusions:The prevalence of NICCD in Xuzhou was 1/36,038. c.852_855delTATG mutation is the most frequent one. Five novel mutation loci are discovered, expanding the SLC25A13 gene mutation spectrum. Most infants with NICCD have a good prognosis, requiring early diagnosis, treatment and life-long follow-up.

Protein malnutrition during lactation affects thoracic aortic tunica media thickness in Wistar rat pups

ABSTRACT Purpose: To evaluate the morphological effects of a low-protein diet during maternal lactation on the offspring's thoracic aorta. Methods: Two female Wistar rats were mated with male of the same species at 4 months of age. Until the birth of the pups, all animals received commercial rat chow. After giving birth, the puerperal females were divided into two groups and adjusted the litter to five puppies per group: a control group that received commercial feed, and an experimental group whose diet included the same amount of calories, but 8% lower protein content. All animals' masses were measured throughout the lactation period, and the pups were euthanized after weaning at 21 days of age. The thoracic aorta was removed, histologically processed and stained with Weigert's resorcin-fuchsin for histomorphometric analysis of tunica media thickness. Results: Although both groups were born with similar body mass, during the 21 days of lactation the restricted protein group gained only 39% of the body mass of the control group. Histomorphometric analysis revealed that the restricted protein group had a significantly lower mean tunica media thickness than the control group. Conclusions: A low-protein diet for nursing mothers influences mass gain and aortic tunica media thickness in their offspring.

D-bifunctional protein deficiency caused by / 中国当代儿科杂志

A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the

Desgaste proteico energético en pacientes con enfermedad renal crónica en estadios III a IV en Caldas, Colombia / Protein Energy Wasting in Patients with Chronic Renal Disease in Stage III to IV Caldas (Colombia)

Resumen Introducción: la enfermedad renal crónica (ERC) es un problema de salud mundial con una prevalencia aproximada del 7,2 % en países desarrollados y del 10 % en todo el mundo; además, es un factor independiente de morbilidad y riesgo cardiovascular que se caracteriza por la pérdida progresiva de la función renal. Objetivo: evaluar la frecuencia de desgaste proteico energético (DPE) en pacientes con ERC en estadios III a IV. Materiales y métodos: estudio descriptivo y de corte transversal. Se realizó una evaluación de los registros de las base de datos de la Sociedad Internacional de Nutrición y Metabolismo Renal sobre pacientes con ERC que contaran con variables sociodemográficas, bioquímicas, valoración global subjetiva (VGS) y medidas antropométricas para el diagnóstico de DPE. Resultados: de 200 pacientes revisados en consulta externa de Nefrología, 60 cumplieron con los criterios de inclusión. El promedio de edad fue de 68,4 años, con una media de tasa de filtración glomerular (TFG) de 47,1 mL/min. Respecto a la ERC, el 61,66 % (n=37) de los participantes fue clasificado en estadio IIIa; el 31,6 % (n=19), en estadio IIIb, y el 6,66 % (n=4), en estadio IV. Ninguno de los pacientes cumplió con los criterios para el DPE. La evaluación de la VGS mostró que el 53,33 % (n=32) de los pacientes estaba en categoría VGS-A (bien nutridos), el 45 % (n=27) en VGS-B (malnutrición moderada) y solo un paciente en VGS-C (malnutrición grave). La mayor proporción de pacientes con bajos niveles de albúmina y colesterol estuvo en pacientes con ERC en estadio IIIb, y los pacientes con índice de masa corporal <23, en estadios IIIb y IV. Conclusión: según los criterios de la Sociedad Internacional de Nutrición y Metabolismo Renal, ningún paciente presentó DPE.

Abstract Introduction: Chronic kidney disease (CKD) is a condition that is recognized as a global health problem and has an approximate prevalence of 7.2% in developed countries, and 10% in the world population, it is also an independent factor of cardiovascular morbidity and risk characterized by progressive loss of kidney function. Objective: To evaluate the frequency of DPE in patients with CKD stages III to IV. Methods: Descriptive, cross-sectional study. Evaluation of a database of patients with CKD, which will have sociodemographic, biochemical variables, Subjective Global Assessment (VGS), and anthropometric measures, for the diagnosis of DPE of the International Society for Nutrition and Renal Metabolism. Results: Of 200 reviewed patients from the Nephrology outpatient clinic, 60 met the inclusion criteria. The average age was 68.4 years, with a mean glomerular filtration rate (GFR) of 47.1ml / min. Regarding CKD, 61.66% (37) of the patients classified in stage IIIa, 31.6% (19) in stage IIIb, and 6.66% (4) in stage IV. None of the patients met the criteria for DPE. The VGS evaluation showed that 53.33% (32) of the patients were in the VGS A category (well nourished), 45% (27) VGS B (moderate malnutrition) and only one patient was classified as VGS C (severe malnutrition). The highest proportion of patients with low levels of albumin and cholesterol was in patients with CKD stage IIIb, and patients with BMI less than 23 in stages IIIb and IV. Conclusion: According to the criteria of the International Society for Renal Nutrition and Metabolism, no patient had DPE. outpatient clinic in Caldas, with CKD stages III to IV-. METHODS: Descriptive, cross-sectional study. Evaluation of a database of patients with CKD, which will have sociodemographic, biochemical variables, Subjective Global Assessment (SGA), and anthropometric measures, for the diagnosis of PEW of the International Society for Nutrition and Renal Metabolism. RESULTS: Of200 reviewed patients from the Nephrology outpatient clinic, 60 met the inclusion criteria. The average age was 68.4 years, with a mean glomerular filtration rate (GFR) of 47.1ml / min. Regarding CKD, 61.66% (37) of the patients were classified in stage IIIa, 31.6% (19) in stage IIIb, and 6.66% (4) in stage IV. None of the patients met the criteria for PEW. The SGA evaluation showed that 53.33% (32) of the patients were in SGAA category (well nourished), 45% (27) SGA B (moderate malnutrition) and only one patient was classified as SGA C (severe malnutrition). The highest proportion of patients with low albumin and cholesterol levels was in patients with CKD in stage IIIb, and patients with BMI less than 23 in stages IIIb and IV. Conclusion: According to the criteria of the International Society for Nutrition and Renal Metabolism, no patient had PEW.

Estado nutricional, hábitos de alimentación y de estilo de vida en vegetarianos de Asunción y Gran Asunción, Paraguay / Nutritional status, eating habits and lifestyle factors among vegetarians from Asunción and Great Asunción, Paraguay

RESUMEN Una dieta vegetariana se define por la exclusión total o parcial de alimentos de origen animal. Cuando es planificada adecuadamente puede prevenir y tratar enfermedades. Sin embargo, una dieta restrictiva en ciertos alimentos debe ser evaluada. El propósito de esta investigación fue describir parámetros antropométricos, hábitos de alimentación y de estilo de vida en ovo-lácteo-vegetarianos y veganos y explorar diferencias en la ingesta de nutrientes críticos entre ambos grupos. Estudio descriptivo de corte transversal, realizado en ovo-lácteo-vegetarianos y veganos de Asunción, Paraguay, durante el 2015. Se evaluaron parámetros antropométricos,, ingesta y hábitos de estilo de vida saludable. Participaron 17 ovo-lácteo-vegetarianos y 14 veganos. El 67,7 % (n= 21) se encontró normopeso, el 29 % (n= 9) presentó exceso de peso, y el 3,2% (n=1) bajo peso. Se presentó una ingesta inferior a los requerimientos en energía, carbohidratos, proteínas y grasas en ambos grupos de vegetarianos, e ingesta muy limitada de calcio y vitamina B12 en veganos. Las mujeres presentaron ingesta muy por debajo de las recomendaciones para hierro y calcio. Ninguna mujer vegana cumplió con la recomendación dietaria de vitamina B12. Al comparar grupos, se hallaron diferencias significativas en proteínas, calcio (menor consumo en veganos) y fibra (menor en ovo-lácteo-vegetarianos). La suplementación con vitaminas y suplementos también fue muy baja. Los resultados resaltan la importancia de una evaluación constante de la ingesta de nutrientes en una dieta vegetariana, a modo de evitar deficiencias o excesos, y la insoslayable tarea del nutricionista para el asesoramiento alimentario-nutricional a los individuos que expresen interés en adoptar este tipo de dieta.

ABSTRACT A vegetarian diet is defined by the total or partial exclusion of foods of animal origin. When properly planned it can prevent and treat disease. However, a restrictive diet in certain foods must be evaluated. The purpose of this research was to describe anthropometric parameters, eating and lifestyle habits of lacto-ovo-vegetarians and vegans, and to explore differences in critical nutrient intake between both groups. We conducted a descriptive cross-sectional study, carried out among lacto-ovo-vegetarians and vegans in the city of Asunción, Paraguay, during 2015. Anthropometric parameters,, intake and healthy lifestyle habits were evaluated. Seventeen lacto-ovo-vegetarians and 14 vegans participated. 67.7% (n= 21) were normal weight, 29.1% (n= 9) were overweight, and 3.2% (n= 1) were underweight. There was an intake lower than the requirements in terms of energy, carbohydrates, proteins and fats in both groups of vegetarians, and very limited intake of calcium and vitamin B12 in vegans. Women particularly had intake well below the recommendations for iron and calcium. No woman on a vegan diet met the dietary recommendation for vitamin B12. When comparing groups, significant differences were found in terms of protein and calcium, (lower consumption in vegans), fiber (lower in lacto-ovo-vegetarians). Vitamin supplementation was also very low. The results highlight the importance of constant evaluation of nutrient intake in a vegetarian diet in order to avoid deficiencies or excesses, and the very important work of the nutritionist for food and nutritional advice for individuals who express interest in adopting this type of diet.

Severe malnutrition after bariatric surgery and clinic manifestations of infection

SUMMARY This report describes the post-bariatric-surgery evolution of an obese patient who had low adherence to the diet and micronutrient supplementation. Four years after two bariatric surgeries, the patient was admitted due to transient loss of consciousness, slow thinking, anasarca, severe hypoalbuminemia, in addition to vitamin and mineral deficiencies. She had subcutaneous foot abscess but did not present fever. Received antibiotics, vitamins A, D, B12, thiamine, calcium, and parenteral nutrition. After hospitalization (twenty-eight days), there was a significant body weight reduction probably due to the disappearance of clinical anasarca. Parenteral nutrition was suspended after twenty-five days, and the oral diet was kept fractional. After hospitalization (weekly outpatient care), there was a gradual laboratory data improvement, which was now close to the reference values. Such outcome shows the need for specialized care in preventing and treating nutritional complications after bariatric surgeries as well as clinical manifestations of infection in previously undernourished patients.

RESUMO Este relato descreve a evolução pós-cirurgia bariátrica de uma paciente obesa que apresentou baixa adesão à dieta e suplementação de micronutrientes. Quatro anos após duas cirurgias bariátricas, a paciente foi internada por perda transitória de consciência, raciocínio lento, anasarca, hipoalbuminemia grave, além de deficiências vitamínicas e minerais. Apresentava abscesso subcutâneo no pé, mas não apresentava febre. Recebeu antibióticos, vitaminas A, D, B12, tiamina, cálcio e nutrição parenteral. Após a internação (28 dias) houve redução significativa do peso corporal, provavelmente devido ao desaparecimento clínico da anasarca. A nutrição parenteral foi suspensa após 25 dias e a dieta oral foi mantida fracionada. Após a internação (atendimento ambulatorial semanal) houve uma melhora gradativa dos dados laboratoriais, que estavam próximos dos valores de referência. Tal desfecho mostra a necessidade de cuidados especializados na prevenção e tratamento de complicações nutricionais após cirurgias bariátricas, bem como manifestações clínicas de infecção em pacientes previamente desnutridos.

Difference of Low Skeletal Muscle Index According to Recommended Protein Intake in Korean

BACKGROUND: Sarcopenia has become a major concern owing to its association with a high risk of fall or fracture and metabolic impairments. There is insufficient evidence to support the role of dietary protein intake in reducing the prevalence of sarcopenia. This study was conducted to investigate the variation in low skeletal muscle index (SMI) with the dietary levels of protein intake.METHODS: This study analyzed data of 3,482 male and 4,838 female aged 50 years or older from the Korean National Health and Nutrition Examination Survey (KNHNES) database (2008–2011). Low SMI was indicated by a value <0.789 in male and <0.512 in female. Multiple logistic regression was performed to analyze the association of SMI with protein intake, whereby it was tested whether the dietary intake of proteins met the estimated average requirement (EAR) or the reference nutrient intake (RNI) as stated in the dietary reference intake (DRI) for Koreans, 2015.RESULTS: Irrespective of sex, the prevalence of low SMI was significantly high when the protein intake did not meet the EAR or RNI. Following adjustment for covariates, the odds ratio (OR) for low SMI in subjects with unmet EARs was 1.63 (1.28–2.09) in male and 1.35 (1.10–1.66) in female. The OR for low SMI in subjects with unmet RNI was 1.74 (1.38–2.18) in male and 1.39 (1.14–1.69) in female.CONCLUSION: The prevalence of low SMI was significantly higher when the protein intake did not meet the EAR or RNI as stated in the DRI for Koreans.

Deficiencia congénita de proteína C en un recién nacido con trombosis y necrosis de tejidos extensa / Congenital C protein deficiency in a newborn with extensive thrombosis and necrosis of tissues

Uno de los trastornos hematológicos más graves del período neonatal es la deficiencia congénita de proteína C, de presentación muy rara, y causa de enfermedad tromboembólica severa y púrpura fulminante en recién nacidos. Se puede sintetizar como una entidad clínico-patológica, de aparición aguda, con trombosis de la vasculatura de la dermis, lo cual conduce a necrosis hemorrágica y progresiva de la piel, asociada a coagulación intravascular diseminada y hemorragia perivascular, que ocurre en el período neonatal. El paciente presentado exhibe los elementos clínico-patológicos que caracterizan la púrpura fulminante, cuyo origen se debe a una deficiencia hereditaria de proteína C, lo cual condujo a la aparición de complicaciones trombóticas severas(AU)

One of the most serious hematological disorders of the neonatal period is congenital C protein deficiency of very rare occurrence and the main cause of severe thromboembolic disease and purpura fulminans in newborns. It may be summarized as a clinical and pathological entity of acute occurrence, with dermis vasculature thrombosis that leads to progressive hemorrhagic necrosis of the skin, associated to disseminate intravascular coagulation and perivascular hemorrhage in the neonatal period. The patient of this report showed the clinical and pathological elements characterizing purpura fulminans the origin of which is due to hereditary C protein deficiency that led to onset of severe thrombotic complications in this patient(AU)

Clinical analysis of four cases of infantile cholestasis hepatitis caused by Hitlin protein deficiency / 中国综合临床

Objective To investigate the clinical manifestations,laboratory features,methods of diagnosis and treatment and prognosis outcome of intrahepatic cholestasis caused by citrin deficiency (NICCD).Methods Four patients in two months ages diagnosed as NICCD were investigated from February 2014 to December 2014 in the Children's Hospital of Wuhan.The diagnosis and treatment and prognosis were analyzes.Results All patients were in hospital due to the skin with yellow dye admission.The direct bilirubin elevated anomalies associated with different levels of blood lipid,blood ammonia and lactate metabolism were characterized by liver function tests.The hot spot of NICCD SLC25A13 gene mutations in the regional common mutations IVS13 + 1G/A,1638ins23,IVS11 + 1G/A,851del4,S225X,1800ins1,R605X,IVS6 + 5G ＞ A were detected by genscaning and genotyping.Genotyping of SLC25A13 gene in 4 cases were 1638ins23 and 851del4 two heterozygous mutations,851del4 homozygous mutation,851del4 heterozygous mutation,and IVS6+ 5G＞A heterozygous mutation,respectively.So these patients were confirmed as NICCD.The patients were cured by antiinfective and gallbladder back yellow symptomatic treatments.The liver function,blood ammonia,lactic acid and blood lipid were exanimated at the time of admission,1 weeks and 2 weeks after admission,respectively.The results indicated that the treatment effect were good.The liver function were restored to normal after two weeks of outpatient.Conclusion The diagnosis of NICCD needs a comprehensive analysis of clinical,biochemical,metabolic genomics,imaging and pathology.SLC25A13 gene analysis is the reliable basis for the diagnosis of the disease.It is the key for NICCD to diagnose early.It is important to distinguish bile deposition caused by biliary atresia and other related diseases from NICCD.The diet early replacement is good for the prognosis.

Protein Consumption in Diet of Adult Indians : A General Consumer Survey (PRODIGY).

A PROtein consumption in Diet of adult Indians, a consumer surveY (PRODIGY) was conducted in seven major cities in 1260 respondents across India in order to assess the consumer understanding of protein in their day to day life. It was observed that around 9 out of 10 consumers had a diet deficient in proteins. This was regardless of the gender and the socio-economic group A and B interviewed.

Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child.

Aim: To explore, in one patient, the possibility that D-bifunctional protein (D-BP) deficiency affects telomere length, and to determine the profile of genetic expression. Presentation of Case: Due to the symptoms of a newborn and his family background, a peroxisomal panel was performed. There were high levels of very long chain fatty acids and abnormal peroxisomes. At 8 months the patient exhibited other complications, including progressive multi systemic deterioration, and at 15 months died of pneumonia. Discussion: Analysis of the patient’s fibroblasts provided evidence of a defect in the peroxisomes and in the oxidation of fatty acids, leading to a diagnosis of D-BP deficiency. Significant alterations were found in the genetic expression profile, with the greatest number of affected genes involved in neuronal functions, two implicated in peroxisomal biogenesis, and some others related to telomere protection and DNA repair. The child had a mixture of very short and normal length telomeres, a condition commonly observed in the elderly and in individuals with chronic degenerative diseases. Conclusion: The abnormal function of peroxisomes and altered gene expression found in the patient under study could explain the affected telomere length. Further studies are needed to explore this possibility.

Acrodermatitis due to zinc deficiency after combined vertical gastroplasty with jejunoileal bypass: case report / Acrodermatite por deficiência de zinco após associação de gastroplastia vertical com derivação jejuno-ileal: relato de caso

CONTEXT: Nutritional complications may occur after bariatric surgery, due to restriction of food intake and impaired digestion or absorption of nutrients. CASE REPORT: After undergoing vertical gastroplasty and jejunoileal bypass, a female patient presented marked weight loss and protein deficiency. Seven months after the bariatric surgery, she presented dermatological features compatible with acrodermatitis enteropathica, as seen from the plasma zinc levels, which were below the reference values (34.4 mg%). The skin lesions improved significantly after 1,000 mg/day of zinc sulfate supplementation for one week. CONCLUSIONS: The patient's evolution shows that the multidisciplinary team involved in surgical treatment of obesity should take nutritional deficiencies into consideration in the differential diagnosis of skin diseases, in order to institute early treatment.

CONTEXTO: Complicações nutricionais podem ocorrer após cirurgia bariátrica, pela restrição no consumo de alimentos e por comprometimento do processo digestivo e absortivo. RELATO DO CASO: Após ter sido submetida a gastroplastia vertical e derivação jejuno-ileal, uma paciente apresentou acentuada perda de peso e desnutrição proteica. Sete meses após a cirurgia bariátrica, manifestou-se quadro dermatológico compatível com acrodermatite enteropática, verificado a partir dos níveis plasmáticos de zinco (34,4 mg%), que se situavam abaixo dos valores de referência. As lesões cutâneas melhoraram significativamente após 1.000 mg/dia de suplementação de sulfato de zinco, por uma semana. CONCLUSÕES: A evolução da paciente mostra que a equipe multiprofissional envolvida no tratamento cirúrgico da obesidade deve considerar as deficiências nutricionais no diagnóstico diferencial das doenças cutâneas, a fim de instituir precocemente o tratamento.

Bone mineral density and bone strength from the mandible of chronically protein restricted rats

The present investigation was performed to assess the biomechanical repercussion of protein malnutrition imposed on rats between the 26th and 135th days of postnatal life on the mandible, which is not a weight-bearing bone but supports the loads related to the masticatory activity. Female Wistar rats aged 26 d (n=14) were placed on either a 4%-protein diet (ICN 960254, P4 group) or a 20%-protein diet (ICN 960260, P20 group) and killed 111 d later. Both body weight and length were recorded regularly. The mandibles were dissected and cleaned of adhering soft tissue. Mandibular growth was estimated directly by taking measurements between anatomical points. Areal Bone Mineral Density (BMD) was estimated using a bone densitometer (LUNAR DPX-L). Mechanical properties of the right hemimandible were determined using a three-point bending mechanical test to obtain the load/deformation curve and estimate the structural properties of the bone. Results were summarized as means ± SD. Comparisons between parameters were performed by Student's t test. A 75% reduction in body weight and a 32% reduction in body length were observed in P4 rats. Like body size, mandibular weight, length, height and area (index of mandibular size) were negatively affected by P4 diet, as was the posterior part of the bone (posterior to molar III). The anterior part (alveolar and incisor alveolar process) was not affected by age or diet. The "load capacity" extrinsic properties of the mandible (load fracture, stiffness, yielding point) were between 43% and 64% of control value in protein restricted rats. BMD was similar in both groups of animals. Conclusion: 1) Chronic protein malnutrition imposed on rats from infancy to early adulthood reduces the growth of the posterior part of the mandible without inducing changes in the anterior part, which produces some deformation of the bone in relation to age-matched rats; and 2) the significant reduction of strength and stiffness of the mandible seem to be the result of an induced loss of gain in bone structural properties as a consequence of a correlative loss of gain in both growth and mass, yet not in bone material properties.

La investigación presente fue diseñada con el objeto de evaluar la repercusión biomecánica de la malnutrición proteica impuesta a ratas entre los días 26º y 135º de edad sobre la mandíbula (M), hueso que no soporta carga relacionada con el peso corporal sino con las fuerzas masticatorias. Ratas Wistar hembras de 26 d de edad (n=14) fueron alimentadas con dietas conteniendo 4% (grupo P4) (ICN 960254) o 20% (grupo P20) (ICN 960260) de caseína y sacrificadas 111 d después. Peso y longitud corporales fueron registrados regularmente. Las mandíbulas fueron disecadas y liberadas de tejido blando. Se realizaron mediciones entre diversos puntos anatómicos para estimar la morfometría del hueso. La Densidad Mineral Osea (DMO) fue determinada en un densitómetro LUNAR DPX-L. La M derecha de cada animal fue sometida al test de flexión a 3 puntos para obtener la curva carga/deformación y estimar las propiedades estructurales del hueso mandibular. Los resultados (X±DS) fueron analizados estadísticamente mediante test t de Student. El peso y la longitud corporales fueron menores en el grupo P4 que en el P20 (-75% y -32%, respectivamente). Longitud de la base, altura y área mandibular (índice del tamaño de M) fueron afectados negativamente por la dieta P4, lo mismo que la porción posterior de M (posterior al molar III). La porción anterior (procesos alveolar e incisivo) no fueron afectadas por dieta o edad. Todas las propiedades biomecánicas de M (carga de fractura, resistencia en fase elástica, límite elástico) fueron 43-64% menores en grupo P4 que en grupo P20. El valor de DMO fue similar en ambos grupos. CONCLUSION: 1) La malnutrición proteica crónica impuesta a ratas desde la infancia hasta la adultez reduce el crecimiento de la porción posterior de la mandíbula sin inducir cambios en su porción anterior, lo que produce una cierta deformación del hueso en comparación con animales de la misma edad; y 2) la importante disminución de la resistencia a fractura y de la rigidez durante el período elástico sería el resultado de una reducción de ganancia de las propiedades estructurales óseas como consecuencia de una reducción correlativa de ganancia de masa ósea, con mantenimiento de la normalidad de las propiedades óseas intrínsecas.

Acrodermatitis Enteropathica-like Eruption Associated with Combined Nutritional Deficiency

We present here a case of acrodermatitis enteropathica-like eruption associated with essential free fatty acid and protein deficiencies as well as borderline zinc deficiency that occurred after Whipple's operation in a 31-yr-old woman. Her eruptions were improved not by zinc supplements alone, but her condition was improved by total parenteral nutrition including amino acids, albumin, lipid and zinc. Although we could not exactly decide which of the nutrients contributed the most to her manifestations, we inferred that all three elements in concert caused her dermatoses. This case shows that even though the patient's skin manifestations and laboratory results are suggestive of acrodermatitis enteropathica, the physicians should keep in mind the possibility that this disease can be associated with other nutritional deficiencies such as free fatty acid or protein deficiency.

CETP(Cholesteryl Ester Transfer Protein) Deficiency Caused by Genetic Mutation in the CETP Gene in Normal Korean Population

BACKGROUND: CETP(Cholesteryl ester transfer Protein) is the essential protein for 'reverse cholesterol transport' which transfers cholesteryl ester from HDL particles to other lipoproteins. The subjects with CETP deficiency caused by genetic mutation in the CETP gene have very high HDL levels that CETP deficiency implies anti-atherogenic effect. A missense mutation in the exon 15(D442G) and a splicing defect in the intron 14(Int 14A) in the CETP gene are reported to be popular among Japanese population which overall prevalence of both mutations is up to 10%. METHODS: To identify the CETP mutaion such as D442G or Int 14A among Koreans, seven subjects who have high HDL level above 80mg/dl and 14 first-degree relatives of them were included in this study. RESULTS: Of 21 subjects in 7 familes, 5 subjects in 2 families were confirmed as D442G mutation of CETP gene, but Int 14A mutation is not found. Subjects with D442G mutation have high apo A-I levels as well as HDL levels. CONCLUSION: The D442G mutation of CETP gene is firstly confirmed in Koreans. The CETP deficiency caused by genetic mutation in the CETP gene seems to be prevalent among Korean population.

Protein deficiency and age related alterations in rat peritoneal macrophage lipids.

The effects of dietary protein restriction and age on the thioglycollate elicited peritoneal macrophage lipid constituents were studied. Impact of subtle changes in lipid components on macrophage functions have been assessed. Lipid profiles of macrophages recovered from rats fed 20 and 4% protein diets and stock diet fed rats (0 and 3 wk) were comparable qualitatively. Quantitative analysis however revealed significant decrease in phospholipids (30–40%) and consequent elevation of cholesterol/phospholipid molar ratios in the protein depleted and young rats (0 wk), compared to the protein fed groups. The protein deficient and the young rats also exhibited accumulation of certain neutral lipids and reduction in triglycerides. Analysis of fatty acid methyl esters of macrophage phospholipids revealed the predominance of long chain polyunsaturated fatty acids even when oleic (C18:1) and linoleic (C18:2) formed the bulk of unsaturated fatty acids in the diet. However, the long chain poly unsaturated fatty acid content, particularly the docosahexaenoic acid (C22:6n-3) was greatly reduced in the protein depleted and 0 wk rats. Observed changes in the long chain polyunsaturated fatty acids of macrophage phospholipids may be of physiological significance as they modulate the immunological functions of the cell.

Effects of protein deficiency on selective elicitation of lysosomal enzymes in rat peritoneal macrophages.

Young albino rats were fed ad libitum 4, 8 or 20 % (control) protein diet for 1–4 weeks. Total activities of some of the lysosomal enzymes, namely, acid phosphatase, aryl sulphatase, ß-glucuronidase and cathepsin D, were determined in resident and proteasepeptone elicited peritoneal macrophages. Total cell number, protein content and the lysosomal enzyme activities were increased significantly in protease-peptone elicited macrophages; though at a lower rate in 4 % protein-fed group compared to control ones. However, the rate of induction of the tested hydrolases was selective and their response to the stimulant varied widely. Similarly, response of each enzyme to low protein diet also varied. Thus, at 4 weeks, cathepsin D and ß-glucuronidase activities, expressed per total number of elicited macrophages were reduced by 45 and 60 %, respectively, in 4 % protein-fed animals. These results indicate that the metabolic events related to lysosomal function in macrophages, are affected by dietary restriction of proteins.

Enumeration and structural assessment of peritoneal macrophages during progressive protein deficiency in rats.

The effects of protein malnutrition on responsiveness of macrophages to proteosepeptone stimulation and on their chemical composition were investigated. Relative number of resident macrophages in rat peritoneal cavity was reduced by about 50 % during 4 weeks on 3 % protein diet. Similarly, decreased migration capacity of the circulating macrophages to the peritoneal exudate in response to the stimulant, was observed in protein-fasted rat compared to that in the 20 % protein-fed group. Further, the chemical composition of the isolated elicited cells was determined. Total proteins, sugars, lipids and nucleic acids were significantly low in the cells isolated from protein-deficient animals, though the cell size was not affected. However, cholesterol: phospholipid molar ratios were distinctly higher than that in control and increased progressively in the 3 and 8 % protein-fed animals. The implications of these structural changes in macrophages on their functional capability are discussed.