Body Height ; Child ; Gitelman Syndrome ; complications ; diagnosis ; Growth Disorders ; etiology ; Humans ; Male

OBJECTIVES: To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD). METHODS: A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P₇₆-P₁₀₀) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation. RESULTS: A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05). CONCLUSIONS Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.
Humans ; Child ; Colitis, Ulcerative/diagnosis* ; Nutritional Status ; Retrospective Studies ; Emaciation/complications* ; Delayed Diagnosis ; Inflammatory Bowel Diseases/complications* ; Malnutrition/complications* ; Growth Disorders/complications*

Biomarkers ; blood ; Child ; Chorionic Gonadotropin ; blood ; Follicle Stimulating Hormone ; blood ; Growth Disorders ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mediastinal Neoplasms ; complications ; diagnosis ; surgery ; Puberty, Precocious ; diagnosis ; etiology ; Teratoma ; complications ; diagnosis ; surgery ; Testis ; pathology

Adult ; Antipsychotic Agents ; therapeutic use ; Diagnosis, Differential ; Humans ; Insulin-Like Growth Factor I ; biosynthesis ; Magnetic Resonance Imaging ; methods ; Male ; Mental Status Schedule ; Pituitary Neoplasms ; complications ; diagnosis ; Prolactinoma ; complications ; diagnosis ; Psychotic Disorders ; complications ; diagnosis

BACKGROUND/AIMS: Malnutrition and growth retardation are important issues in treating pediatric Crohn's disease (CD). Thus, we aimed to investigate the prevalence of various nutritional and growth parameters at the time of diagnosis in Korean children with CD. METHODS: Seventy-one children (<18 years) were enrolled. We analyzed the Z-scores of height-for-age (HAZ), weight-for-height (WHZ), body mass index for age (BMIZ), bone mineral density for age (BMDZ), and the biochemical markers measured at the time of diagnosis. RESULTS: At diagnosis, HAZ <-2 was observed in three patients (4%), WHZ <-2 in 20 patients (28%), BMIZ <-2 in 19 patients (27%), and BMDZ <-2 in 11 patients (18%). The HAZ was significantly lower in females and patients with extraintestinal manifestations, and the WHZ and BMIZ were significantly lower in patients with stricturing and penetrating disease. Subnormal serum levels were highly prevalent for hemoglobin, albumin, iron, ferritin, calcium, magnesium, folate, vitamin B12, and zinc. There was a significant correlation between nutritional status, growth retardation, and disease activity. CONCLUSIONS: Abnormal nutritional status was highly prevalent in Korean children with CD at the time of diagnosis and was associated with the extent, behavior, and activity of the disease.
Adolescent ; Age Factors ; Body Mass Index ; Body Size ; Body Weight ; Bone Density ; Child ; Crohn Disease/blood/*complications/diagnosis/physiopathology ; Female ; Growth Disorders/complications ; Humans ; Male ; Malnutrition/complications ; Nutritional Status ; Prevalence ; Republic of Korea/epidemiology ; Retrospective Studies

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
Amino Acid Metabolism, Inborn Errors/complications/diet therapy/*genetics ; Antifungal Agents/therapeutic use ; Antigens, CD98 Light Chains/genetics ; Asian Continental Ancestry Group/*genetics ; Carnitine/therapeutic use ; Child, Preschool ; Citrulline/therapeutic use ; Diet, Protein-Restricted ; Disorders of Excessive Somnolence/complications/*diagnosis/drug therapy ; Female ; Growth Disorders/complications/*diagnosis ; Homozygote ; Humans ; Hypercalcemia/complications/*diagnosis ; Metabolic Diseases/complications/*diagnosis ; Mutation ; Nephrocalcinosis/complications/*diagnosis ; Republic of Korea ; Sequence Analysis, DNA ; Sodium Benzoate/therapeutic use ; Vitamin B Complex/therapeutic use

Failure to thrive in a child is defined as 'lack of expected normal physical growth' or 'failure to gain weight'. Diagnosis requires repeated growth measurements over time using local, age-appropriate growth centile charts. Premature babies with appropriate growth velocity and children with 'catch-down' growth, constitutional growth delay or familial short stature show normal growth variants, and usually do not require further evaluation. In Singapore, the most common cause of failure to thrive in children is malnutrition secondary to psychosocial and caregiver factors. 'Picky eating' is common in the local setting and best managed with an authoritative feeding style from caregivers. Other causes are malabsorption and existing congenital or chronic medical conditions. Child neglect or abuse should always be ruled out. Iron deficiency is the most common complication. The family doctor plays a pivotal role in early detection, timely treatment, appropriate referrals and close monitoring of 'catch-up' growth in these children.
Child ; Child Nutritional Physiological Phenomena ; Child, Preschool ; Energy Intake ; Failure to Thrive ; diagnosis ; therapy ; Growth Disorders ; complications ; diagnosis ; therapy ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Primary Health Care ; methods ; Referral and Consultation

This study was carried out to investigate the role of intrinsic neuroprotective mechanisms in the occurrence and development of vascular cognitive impairment (VCI) with the goal of providing a target for the treatment and prevention of VCI. Inpatients with proven cerebral infarction on cranial computed tomography (CT) were recruited as the ischemic cerebrovascular diseases (ICVD) group, and the patients with mixed stroke were excluded. In ICVD group, 12 patients were diagnosed as having VCI and served as VCI group. Inpatients undergoing surgical operation in our hospital were enrolled as control group. Double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) was employed to detect the levels of hypoxia-inducible factor 1-alpha (HIF-1α), vascular endothelial growth factor (VEGF), nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) in the cerebrospinal fluid of patients with ICVD. Associations between the levels of these factors and the Mini-Mental State Examination (MMSE) score were evaluated. In ICVD and VCI groups, the levels of HIF-1α and NGF in the cerebrospinal fluid were markedly lower than those in control group (P=0.037 and P=0.000; P=0.023 and P=0.005). In ICVD and VCI groups, the MMSE score was negatively related to VEGF level in the cerebrospinal fluid (r=-0.327, P=0.021; r=-0.585, P=0.046). In VCI group, HIF-1α level was correlated with NGF level (r=0.589, P=0.044). HIF-1α and NGF are involved in ischemic and hypoxic cerebral injury. The HIF signaling pathway plays an important role in intrinsic neuroprotection. Upregulation and maintenance of HIF-1α and NGF expression may attenuate VCI. Changes in VEGF levels are related to the occurrence and development of cognitive impairment.
Biomarkers ; cerebrospinal fluid ; Brain-Derived Neurotrophic Factor ; cerebrospinal fluid ; Cerebral Infarction ; cerebrospinal fluid ; complications ; diagnosis ; Cognition Disorders ; cerebrospinal fluid ; complications ; diagnosis ; Female ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; cerebrospinal fluid ; Male ; Middle Aged ; Nerve Growth Factor ; cerebrospinal fluid ; Reproducibility of Results ; Sensitivity and Specificity ; Vascular Endothelial Growth Factor A ; cerebrospinal fluid