Chronic Nutritional Deficiency Research Articles

Highly efficient determination of trace ascorbic acid in vitamin C tablets by boronate affinity-modified magnetic metal–organic frameworks

Ascorbic acid (AA) plays an important role in many life processes. The chronic nutritional deficiency of AA will lead to the symptoms of scurvy. Therefore, the sensitive quantitative detection of AA is most important in the pharmaceutical analysis, food industry and diagnostic application. In this study, a dual-functional magnetic metal–organic frameworks (Fe3O4@SiO2@UiO-PBA) nanoparticles was synthesized by modifying phenylboronic acid to the surface of magnetic UiO-66-NH2 via postsynthetic modification for selectively and sensitively florescent detection of AA. Due to the abundant amino groups and grafted phenylboronic acid, the proposed nanoparticles have the dual properties of hydrophilicity and boronate affinity. Under optimum conditions, the obtained Fe3O4@SiO2@UiO-PBA nanoparticles can detect AA within 30 s, and has a good linear relationship with the concentration of AA in the range of 5.0–60 μM with a detection limit of 2.5 μM (S/N = 3). In addition, the prepared Fe3O4@SiO2@UiO-PBA nanoparticles showed excellent selectivity and great potential application in the highly efficient determination of trace AA in vitamin C tablets. These results indicated that a convenient method was proposed to develop fluorescent probes for rapid and sensitive detection of trace AA in real samples.

Relationship Between Stunting and Caries In Children Aged 2-5 Years Old Systematic Review

Introduction: Stunting is a chronic nutritional deficiency caused by a deficiency of macronutrients and micronutrients. Nutritional deficiency in stunting children affects the occurrence of salivary gland atrophy, changes in saliva composition, and changes in mineral content in teeth that are at risk for dental caries. Purpose: To determine the relationship between stunting and dental caries in children aged 2-5 years old. Methods: The type of research is a systematic review with qualitative analysis. Result: This study involved five journals that were selected from the PUBMED journals database and Google Scholar. Cross-sectional and experimental journals within the last 15 years discussing relationship between stunting and dental caries in children aged 2-5 years old. Conclusion: There is a relationship between stunting and dental caries (n=5).

The Relationship Between Characteristics of Toddlers, Socio-Economic, and Household Food Security with Stunting in Kampung 1001 Malam Surabaya, Surabaya

Background: Stunting is a chronic nutritional deficiency condition defined by low-height for age. This condition is caused by various factors such as food intake, infectious diseases, food security conditions, parenting patterns, economy and environmental health conditions. Objective: The purpose of this study was to determine the relationship between the characteristics of toddlers, socioeconomic and household food security with stunting nutritional status in toddlers aged 12 – 59 months in Kampung 1001 Malam Surabaya, Surabaya. Methods: This research was a quantitative with a cross sectional study design. The sample in this study was amounted to 35 children under five with sampling technique was total sampling. The independent variables in this studi were the characteristics of children under five, socioeconomic, and household food security, while the dependent variabel is stunting condition. Data collection method used secondary data for birth weight and height of toddlers, for primary data such as maternal education, mother's occupation, family income, and household food security. Data analysis using chi square and Rho spearman. Confidence interval for this study is 95%. Results: The results showed that 57.1% of children were female, 77.1% aged over 24 months, 8.6% had a history of low birth weight, 28.6% had a history of underweight, 62.9% of mothers had low education, 94.2% work as housewives, 57.1% have an income of >Rp. 500,000 – Rp. 1,000,000, 80% have food insecure and 40% of children under five are stunted. Analysis of the test showed that there was no relationship between the characteristics of toddlres (birth weight (p=0.704) and birth length (p=0.729), socioeconomic (mother's education (p=0.116), mother's occupation (p=0.338), and family income. (p=0.540; rs=-0.107) and food security (p=0.863) with stunting in toddlers. Conclusion: In conclusion, characteristics of toodlers, socio-economic and household food security are not risk factor of stunting.

Risk Factors for Stunting Among Children Under Five Years of Age in The Kokoda Tribe, Sorong City

Stunting is a chronic nutritional deficiency resulting in short stature and cognitive impairment. Sorong City has the highest incidence of very short and short toddlers in West Papua Province, 52.58%. This study analyzes the risk factors for stunting among children under five years of age in the Kokoda tribe, Sorong City. This study used a case-control design. The population was all parents and children aged 12-59 months registered at Integrated Health Post in 8 selected villages in Sorong City in 2021, totaling 1,890 children. There were 168 samples, 84 in the cases group and 84 in the control group, with the purposive sampling technique. Data collection used a stunting risk factors questionnaire on toddlers and measured body length, weight, and upper arm circumference. The data was processed by analyzing the Odds Ratio (OR) with the SPSS application. Results showed that children with birth lengths less than 48 centimeters had a 2.652 times greater risk of experiencing stunting compared to those more than equal to 48 centimeters. Children with birth weight less than 2,500 grams had a three times greater risk of stunting compared to those more than equal to 2,500 grams. Respondents with no clean water availability had 2.013 times more experienced stunting. Mothers not taking iron supplements during pregnancy could increase the risk of stunting three times. The risk factors for stunting among under-five children in the Kokoda tribe, Sorong City, are birth length, birth weight, the availability of clean water, and iron supplements during pregnancy.

A cross-sectional study of nutritional status among 10–15 years old rural Bengalee adolescents of Purba Medinipur, West Bengal, India

Introduction. Adolescence period requires special supervision as these years link the impact of generational and early childhood factors to adult outcomes. The World Health Organization (WHO) defines 10-19 years as adolescence period, an important stage of growth and development in the lifespan of an individual. The present study assessed nutritional status among adolescents of two villages of Purba Medinipur, West Bengal, India. Materials and Methods. A cross-sectional study of 443 (208 boys; 235 girls) rural high school students aged 10–15 years of Ajaya and Deulpota villages, Khejuri- I block, Purba Medinipur district, West Bengal, India, was undertaken to evaluate their growth pattern and nutritional status. Anthropometric measurements, including height (cm), weight (kg), mid-upper arm circumference (cm), were measured following standard techniques. Stunting, underweight and thinness were used as indicators of nutritional status. Results. The overall prevalence of stunting, underweight and thinness were 20.32%, 1.81% and 46.95%, respectively. The prevalence of stunting was similar in both sexes (20.67% in boys; 20.0% in girls). The prevalence of thinness was very high among the studied participants (46.63% in boys; 47.23% in girls). According to the WHO classification for assessing severity of malnutrition, the rate of stunting and underweight were medium and low in both sexes, respectively. However, they had very high prevalence of thinness thus indicating a critical situation of undernutrition. Conclusion. The nutritional status of these rural school going adolescents was not satisfactory. The existing prevalence of stunting and thinness among the studied population indicates chronic nutritional deficiency while the low prevalence of underweight reflects that the chronic food deprivation they have undergone was during childhood, not in recent period. Follow up studies and intervention of government schemes are required to ameliorate this problem.

PREVENTION AND INTERVENTION OF STUNTING IN INDONESIA: A SCOPING REVIEW

Introduction. Stunting manifests chronic nutritional deficiency that can begin in the baby in the womb and after birth. This study identifies and describes various stunting prevention and management efforts reported in the literature in Indonesia. This study was to obtain an overview of the prevention and efforts to treat stunting; it is hoped that it will produce the best efficacy information and can be scientifically accounted for so that it can be applied as a national policy in Indonesia. Methods. We reviewed Indonesian and English articles published between 2018 and 2022 through ProQuest, PubMed, and Google Scholar search data engines. The search generated 2,454 articles. All selected studies were systematically evaluated and screened based on title, open access, and full text related to the research objectives. Finally, 10 articles were included in the learning. Stunting prevention and intervention efforts are identified from the selected articles and presented in the extraction table. The final conclusion is made based on the types of intervention from the articles obtained. Results. The results showed that there were 2 types of interventions to overcome stunting in toddlers, namely preventive and curative. Preventive intervention is carried out by conducting health education, mentoring and counselling for families, mothers, and caregivers of stunting toddlers, while curative interventions are provided by improving food intake and adding nutrients. Conclusion. This study describes a variety of stunting prevention and interventions that have been reported in the literature. Further research on the management of stunting with comorbidities is needed because stunting children are a population at risk for complications.

Study of the importance of protein needs for catch-up growth in Indonesian stunted children: a narrative review.

Stunting is a chronic nutritional deficiency due to various adverse cross-sectoral environmental conditions, including food intake. This influences the linear growth and development of children's brains and their cognitive function. Providing interventions to meet stunted children's protein needs tends to prevent the further abnormal development of cognitive functions. High-protein foods are supplied from various edible local commodities in Indonesia. Therefore, this study aims to demonstrate the importance of feeding stunted children with high-protein diets and provide insight that local food ingredients in the country have growth-promoting potential. Through Google Scholar, PubMed, Science Direct, and Nature, 107 articles were obtained with keywords related to stunting, such as protein intake, catch-up growth + stunting, and adverse effect + catch-up growth. The preferred citations randomized-controlled trials and systematic reviews relevant to the study question were compiled using Mendeley version 1.19.8. Based on the literature review results, stunting is hereditary and affects the quality of generations. The adequacy of protein needs is closely related to growth and development, hence, foods containing a high amount of the nutrient facilitate catch-up growth in stunted children. This conclusion is expected to provide information to policymakers and health agencies in the country concerning the education related to high nutritional local food, which can be reached by the community. Interventions with high-protein-containing local foods ought to be tailored to dietary needs and accompanied by monitoring for the presence or absence of unreasonable weight gain to prevent overweight or obesity.

SOCIOLOGICAL AND ANTHROPOLOGICAL STUDIES OF STUNTING FAMILIES STUNTING IN MALANG REGENCY

Stunting is a failed growth in toddlers as a result of chronic nutritional deficiency occurring during the first 1000 days of life making children too short for their age. Toddlers stunting prevalence nationally in 2013 was 37.2%, increasing from 2010 (35.6%) and 2007 (36.8%). In Malang Regency, toddlers stunting prevalence had an increase in the first three years and a decrease in the last two years of 2012—2016 periods, with highest prevalence 30.6% in 2014 and lowest 22.9% in 2016. The current study aimed to analyze the sociological and anthropological characteristics of families with stunted toddlers in Malang Regency. Applying qualitative research design, 33 participants from 3 stunting locus villages of Ngawonggo, Dilem and Karangsari in Malang Regency were involved to represent the urban, highland and coastal areas. Participants for focused group discussion were 15 authoritative figures from the villages. The majority of 26 (78.7%) pregnant mothers ate 3 times per day, but only 8 mothers (24.2%) had complete variety of food consumption during pregnancy. Some food mothers were restricted to eat during pregnancy prescribed by their old belief system were sea fish, kelotok fish, stink beans, pineapples, durians. The majority of 93% toddlers received breast milk feeding. Regarding toddlers’ energy consumption, 69.7 had excess protein intake, 39.39 had severe deficit fat intake, 87.88 had severe deficit carbohydrate intake. On mothers’ nutritional knowledge, 15.1% participants were in good level, 30.3% adequate, and 45.5% inadequate. Regarding hygiene and sanitation, 81.82% observed households had home toilets, but 18.18% had not. 18.82 households consumed boiled tap water for drinking, and 18.18% bought gallon packaged. Sociological and anthropological factors, namely mothers’ eating habits during pregnancy, dietary restrictions, nutritional knowledge, toddlers eating patterns, home hygiene and sanitation, influenced toddlers stunting incidents.

Food Coping Strategies dan Aplikasi Pemantau Status Gizi Sebagai Upaya Preventif Stunting

Stunting is a chronic nutritional deficiency prone to occur in children due to a lack of nutritional intake for a long time starting before the mother is pregnant and until the child is two years old. It is necessary to provide information and education about prevention, early detection and efforts to fulfill nutritional needs.This community service activity aims to increase knowledge of stunting early detection, how to prevent stunting, and improve food coping strategies skills in the household by utilizing food ingredients that are easily found in the surrounding environment. The method used is the preparation of a book with the title "Food Coping Strategies as an Efforts to Prevent Stunting" and the development of the Nutrition Status Monitoring Application (APSI) which was carried out in June-July 2022, as well as providing materials, socialization, and demonstration of cooking competition in August 2022 in the Karanganyar village, Bogorejo District, Blora. The number of participants in this activity was 75 people, consisting of mothers of children under five, women of childbearing age, prospective brides, village officials, representatives of sub-districts and health centers. The results of the Wilcoxon signed ranks test showed that the participants' knowledge about stunting increased after participating in this community service activity (p = 0.001). The activity participants also experienced an increase in skills in choosing, processing, and serving nutrient-rich food made from Moringa leaves as a superior potential in Karanganyar Village.

Prevalence and Associated Factors of Stunting among School Age Children in Addis Ababa City, Ethiopia 2021.

Introduction:Stunting has long been regarded as one of the most important indicators of malnutrition, serving as a proxy for not just chronic nutritional deficiency but also long-term socioeconomic disadvantage among children and society as a whole. In 2016, stunting alone afflicted an estimated 154.8 million (22.9%) children under the age of five over the world. It is one of Ethiopia’s most serious undernutrition and health problems among school-aged children.Objective:To determine the prevalence and associated factors of stunting among school-aged children in Addis Ababa city, Ethiopia 2021.Methods:An institutional-based cross-sectional study was conducted among primary school students in Addis Ababa city. By using a single population proportion, a formula of 627 students was recruited. From 11 sub-cities, 4 sub-cities were selected by lottery method, and 21 (30%) of the schools from the sub-city were selected. Finally, from each school, study participants were selected by using systematic random sampling, using their attendance list as a frame. A self-administered questionnaire was used to collect data, and anthropometric measurements were taken. In order to see the association between the dependent (stunting) and independent variables, bi-variable and multi-variable logistic regression were used. During bi-variable analysis, variables that had p-values of less than 0.2 were entered into multivariable analysis to see the effect of confounding factors. Adjusted Odds Ratios with 95% confidence intervals and a P-value of less than 0.05 were used to see the level of significance.Result:The prevalence of stunting was 108/607 (18.0%) with a 95% CI of 14.5–20.9). Being a male child (AOR = 0.616, 95% CI, 0.34–0.96), type of water source (AOR = 3.4, 95% CI, 1.12–10.37), not feeding breast milk (AOR = 3.411, 95% CI, 1.09–10.07), educational status, and ability to read and write (AOR = 2.11, 95% CI, 1.15–3.88) were predictors of stunting.Conclusion:The study showed that the prevalence of stunting was high, and it explored that stunting remains a noticeable attribute of urban school-age children. The higher educational status of the mother, exclusive breast feeding, using ground water, and being a female child were negatively associated with the prevalence of stunting. The risk of stunting was higher among male than female school-aged children. Findings from the study suggest the need to strengthen the strategies that lead to Sustainable Development Goal 4 to ensure all girls and boys complete primary and secondary schooling by 2030.

LITERATURE REVIEW: RELATIONSHIP BETWEEN FOOD SECURITY AND STUNTING AMONG TODDLERS

Stunting is a condition in children with a length or height of less than -2 SD. Stunting harms children under five and causes growth failure due to chronic nutritional deficiency. In Indonesia in 2017, the prevalence of stunting was 36.4%, which shows the world that Indonesia ranks third as the country with the highest majority of stunting in Southeast Asia. The harmful impact of stunting in the future is a decrease in the quality of human resources, which includes aspects of decreasing the productivity of human resources in the future. Food security is indicated to be one of the factors causing stunting in toddlers, and stunting conditions are closely related to food insecurity experienced by toddlers. This literature review aims to analyze and provide information on the relationship between food security and the incidence of stunting in children under five. The narrative study reviewed many research articles related to food security and the incidence of stunting in children under five. The review results from various sources have been reviewed, showing a close relationship between food security and the incidence of stunting in children under five. Food insecurity experienced by a family directly impacts the food intake of family members to be not optimal both in terms of quantity and quality; this is the cause of the formation of a situation that is not food insecure. The long-term of this condition is that the nutritional adequacy of children under five is not fulfilled, and stunting cannot be prevented. Hopefully, this study can provide information that food adequacy, as seen from food security, is the basis for fulfilling the nutritional needs of children under five. Keywords: Toddler, Food security, Stunting

Stunting Risk Analysis Review From Antenatal Care and Postnatal Care Aspects

Stunting Risk Analysis Review From Antenatal Care and Postnatal Care Aspects. Stunting is a chronic nutritional deficiency caused by inadequate nutritional intake for a long time due to improper feeding. This study aims to analyze the predictor factors for stunting based on aspects of antenatal care and postnatal care. This research is a quantitative analytic study with a case-control study approach involving 90 mothers with children aged 24-59 months who live in the coastal area of ​​Kolaka Regency. The data was processed using the SPSS application, and tested with the Odds Ratio (OR) test. If the LL-UL value does not contain a value of 1, it is considered significant. Predictor/independent variables, it can be seen that the risk factor for a history of folic acid administration has an OR value of 7,000 (2,742-17,867). The risk factor for chronic energy and protein deficiency on the incidence of stunting has an OR value of 8,383 (3.152-22,2922,2). The risk factor for the history of giving iodine to stunting has an OR value of 6.089 (2,442-15,184). The incidence of stunting in children under five in Kolaka Regency is influenced by a history of folic acid consumption, a history of iodine consumption and the incidence of KEK in pregnant women.

Korsakoff Syndrome: A Chronic Nutritional Deficiency Neuropsychiatric condition

In this review we have focused on Korsakoff syndrome, which is an aftermath of Wernicke encephalopathy (WE). Wernicke-Encephalopathy is neuropathologically marked by thiamine or vitamin B1 deficiency, typically induced by excessive alcohol use over an extended period of time in alcoholic patients, while in Nonalcoholic patients, it may be due to impaired utilization or accelerated usage of thiamine. Wernicke-Korsakoff syndrome (WKS) affects the brain region such as the mammillary bodies, periaqueductal and periventricular grey matter, colliculi bodies, and thalamus. The classic triads of WE are ophthalmoplegia, Nystagmus, and ataxia. The brain is examined using MRI and shows damage to the nuclei or memory transit- papez circuit that connects mamillary bodies to the anterior thalamus using the mammillothalamic tract responsible for the recollective memory in the diencephalon. Patients can be treated by parenteral thiamine administration and by abstinence of alcohol within their lifestyle. Keywords: Korsakoff Syndrome, alcoholic, non-alcoholic, Alzheimer's, memory-loss Wernicke encephalopathy, Wernicke-Korsakoff syndrome

Prevalence of Stunting on Toddler in Puskesmas Wajak

Background: Stunting is a condition of chronic nutritional deficiency which can negative short and long-term impacts on children. Malang Regency is one of the 100 priority districts for stunting intervention in Indonesia with 27.28% stunting prevalence. Puskesmas Wajak (Community Health Center) in Malang Regency has one national stunting locus and three district stunting loci. Based on this, it is necessary to describe the incidence of stunting in the Wajak Community Health Center Work Area based on the year 2020 as the latest data. Methods: A descriptive observational with a quantitative approach study was conducted in August-September 2021 with total sampling from secondary data of stunted children aged 0-59 months in “Weighing Month” of February 2020 was 510 children and in the “Weighing Month” of August 2020 was 327 children from thirteen villages in the Puskesmas Wajak. The data was then analyzed by univariate analysis which resulted in the distribution and percentage of the nominal variables and presented in the form of narratives, tables, and graphs. Results: Based on gender, most children have stunting than severe stunting, male: female, 89%:85.7% in February and 91.6%:95% in August. Based on age, the incidence of stunting mostly happened at the age of 24-59 months (59.4% and 63.3%). Conclusion: Stunting mostly happened in males than females and at the age of 24-59 months. Based on the distribution, the highest incidence of stunting was in Blayu and Sukoanyar villages.

Feeding disorders in children: modern approaches to diagnosis and management

Feeding disorders in young and preschool-age children are a very important problem in modern pediatrics due to the high prevalence and negative consequences for the health and development of children due to chronic nutritional deficiency. Correction of feeding disorders in young children is a long-term process, during which it makes most sense to set short-term goals to reach a favourable outcome in the perspective.In the initial phase, the primary goal is to identify warning signs (“red flags”) that pose a risk to children. The prevailing disorders that make feeding difficult are food selectivity, decreased appetite and fear of eating. Treatment should be complex and aimed, first of all, at the psychological side of the problem, with simultaneous correction of nutrition if necessary. The article presents a modern approach to the management of patients with the most common difficulties in feeding in outpatient pediatric practice. This approach provides for the exclusion of alarming signs of somatic and psychoneurological pathology, assessment of oral motor skills, the nutritional status of children and the identification of pathological types of feeding.At present time, there are four main feeding styles: mindful (authoritative), supervising (authoritarian), indulging and uninvolved. Therapeutic tactics depend on the leading disorder of the eating behaviour. Recommendations for appetite correction depend on the underlying cause of its disorder. Providing the child with the necessary nutrients by prescribing “feeding insurance” through the inclusion of isocaloric food products containing native protein and micronutrients into the food ration, which enables the parents to reduce anxiety and avoid the use of forced feeding approaches.

Pemberian Makanan Pendamping ASI (MP-ASI) Dini Berhubungan dengan Kejadian Stunting pada Anak Balita di Desa Kamal Kabupaten Seram Bagian Barat

Stunting (short body) in toddlers is a manifestation of chronic nutritional deficiency. Stunting in toddlers needs special attention because it can hamper the physical and mental development of children. Stunting is associated with an increased risk of illness and death as well as stunted growth of motor and mental abilities. There are many factors that cause stunting, including giving MP-ASI which is too early for babies, namely < 6 months. Children who are given complementary feeding too early are at risk of stunting. The purpose of this study was to determine the relationship between early complementary feeding and the incidence of stunting in under-five children in Kamal Village, West Seram Regency. Methods This research uses descriptive research using a cross sectional design. The study was conducted in December 2020. Sampling was done by purposive sampling method and the number of samples was 80 children under five. The data were analyzed by using the chi square test. The results showed that there was a relationship between early complementary feeding and the incidence of stunting in children under five in Kamal Village with a value of 0,025 < 0,05. Suggestions to health workers to increase mother's knowledge about giving the right MP-ASI for babies through counseling and training. Keywords: Stunting, Complementary Foods for Early Breastfeeding, Toddlers

ANALYSIS OF MATERNAL AGE AT MARRIED, NUMBER OF CHILDREN, HISTORY OF BREASTFEEDING, MOTHER'S EDUCATION AND HIGH RISK OF PREGNANCY WITH INCIDENCE OF STUNTING IN CHILDREN UNDER FIVE-YEARS

Background: Stunting among children is a problem that has received serious attention from the Indonesian government. Incidence of stunting has decreased from year to year, but the decline still does not meet the World Health Organization (WHO) target. Stunting occurs as a result of chronic malnutrition, especially during the first 1000 days of birth as a vital phase. Chronic nutritional deficiency as a toddler can be caused by various factors, including exclusive breastfeeding, the number of children that must be borne by the family and mother's education. Purpose: This study aimed to analyse the age of the women at marriage, the number of children, mother’s education, history of breastfeeding and pregnancy risk with the incidence of stunting in children under five years.. Methods: The design of this study was analytic with a cross-sectional approach. This research was conducted on toddlers aged 13-60 months in a village of East Java Province, Indonesia, with a sample size of 110 children under five. The statistical test used logistic regression with a confidence level of 95%. Results: Data analysis using logistic regression reveal the relationship between the dependent variable and the incidence of toddler stunting, the following results were obtained: from the mother's age at marriage, the value of ? 0.286, the number of family members ? 0.587, mother's education, ? 0.002, history of breastfeeding, ? 0.884, risk of pregnancy ? 0.696. of the five factors associated with the incidence of under-five stunting in this study, it shows that only mother's education has a very significant relationship with the incidence of under-five stunting (? = 0.002 <? = 0.05). The OR value is 4.724, which means that mothers with primary education have a risk of 4.724 times in the incidence of child stunting. Conclusion: The lower the mother's education provides an opportunity for the incidence of toddler stunting. Maternal education is related to the ability to receive information related to nutrition and child development so that it also has an impact on the preparation of family nutrition. In the long term, improper nutrition can lead to stunting.

Case report: a child with cystic fibrosis and phenylketonuria

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Case report: a child with cystic fibrosis and phenylketonuria

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

No correlation between short term weight gain and lower leg length gain in healthy German children.

Background: Length-for-age is considered the indicator of choice in monitoring the long-term impact of chronic nutritional deficiency. Aim: We hypothesized that short term increments of body weight cross-correlate with increments of the lower leg length. Sample and methods: We re-analyzed the association between weekly measurements of weight and of lower leg length in 34 healthy German children, aged 2.9-15.9 years. The data are a subset of measurements originally published in 1988 (Hermanussen et al. 1988a). As the growth measurements were often not equally spaced in time due to interposed holidays and illness, the incremental rates for weight and lower leg length were smoothed using spline functions. Autocorrelation and cross-correlation functions were calculated for weight increments and lower leg length increments. Results: Height and weight increments are pulsatile. Autocorrelations indicated that mini growth spurts occur at irregular intervals. Lack of cross-correlations between weight and lower leg length indicated that mini spurts in weight gain do not coincide with mini spurts in length gain even when considering lag times of up to 10 weeks. Short term changes of weight gain and lower leg length gain in healthy children show no temporal association.