ABSTRACT
Current clinical guidelines provide information about the diagnostic workup of children with growth failure. This mini-review focuses on the nutritional assessment, which has received relatively little attention in such guidelines. The past medical history, in particular a low birth size and early feeding problems, can provide information that can increase the likelihood of nutritional deficits or several genetic causes. The current medical history should include a dietary history and can thereby reveal a poorly planned or severely restricted diet, which can be associated with nutritional deficiencies. Children on a vegan diet should receive various nutritional supplements, but insufficient compliance has been reported in one-third of cases. While proper use of nutritional supplements in children consuming a vegan diet appears to be associated with normal growth and development, insufficient intake of supplements may impede growth and bone formation. Physical examination and analysis of height and weight over time can help differentiating between endocrine causes, gastrointestinal disorders, psychosocial problems, or underlying genetic conditions that prevent adequate nutritional intake. Laboratory screening should be part of the workup in every child with short stature, and further laboratory tests can be indicated if warranted by the dietary history, especially in children on a poorly planned vegan diet.
Subject(s)
Malnutrition , Nutritional Status , Child , Humans , Diet, Vegetarian , Diet, Vegan , Dietary Supplements , Failure to Thrive/diagnosisABSTRACT
TRPM6 is predominantly expressed in the kidney and colon and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis and plays important roles in epithelial magnesium transport and the active magnesium absorption. In this study, we present a 70-day-old Iranian female patient from consanguineous parents with hypomagnesemia and secondary hypocalcemia. She presented with seizures 19 days after birth and refractory watery non-bloody diarrhea. She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, and pseudotumor cerebri following administration of nalidixic acid. She had severe hypomagnesemia and hypocalcemia which were treated with magnesium and calcium supplementation. Despite initial unstable response to supplemental magnesium, she eventually improved and the diarrhea discontinued. The patient was discharged by magnesium and calcium therapy. At the last follow-up at age 2.5 years, the patient remained well without any recurrence or complication. Genetic testing by whole-exome sequencing revealed a novel homozygous frameshift insertion-deletion (indel) variant in exon 26 of the TRPM6 gene, c.3693-3699del GCAAGAG ins CTGCTGTTGACATCTGCT, p.L1231Ffs*36. Segregation analysis revealed the TRPM6 heterozygous variant in both parents. Patients with biallelic TRPM6 pathogenic variants typically exhibit hypomagnesemia with secondary hypocalcemia and present with neurologic manifestations including seizures. In some patients, this is also complicated by chronic diarrhea and failure to thrive. Long-term complications are rare and most of the patients show a good prognosis with supplemental magnesium therapy.
Subject(s)
Hypocalcemia , TRPM Cation Channels , Female , Humans , Calcium , Diarrhea/etiology , Diarrhea/complications , Failure to Thrive/etiology , Hypocalcemia/diagnosis , Hypocalcemia/genetics , Iran , Magnesium , Seizures/complications , TRPM Cation Channels/genetics , AgedABSTRACT
Background: Growth failure due to infection in children is a major health problem throughout the world. It provokes a systemic immune response, with increased interleukin (IL)-6 and reduced IL-10. Lactoferrin (Lf) is a multifunctional iron-binding protein that can be found in whey protein inside formula milk such as oral nutrition supplement (ONS), which is able to upregulate anti-inflammatory cytokines (IL-10) and modulate pro-inflammatory cytokines. We conducted this study to investigate the effect of Lf supplementation in ONS on IL-6 and IL-10 levels in children with failure to thrive and infection. Methods: We performed a quasi-experimental pre- and post-study in children aged 12-60 months old with failure to thrive due to infectious illness. The subjects received 400 ml of oral nutritional supplements (ONS, 1 ml equivalent to 1 kcal) each day for 90 days, and their parents received dietary advice and medication based on the underlying illness. Blood was drawn to measure IL-6 and IL-10 before and after the intervention. Results: There were 75 subjects recruited and divided into group-1 and group-2 based on age. The incidence of undernutrition was 37.33%. Lf in ONS intervention improved body weight and body length. Lf also reduced IL-6, although there was not a significant difference before and after the intervention. However, the IL-6 reduction was significantly higher in subjects with undernutrition compared with subjects with weight faltering. Pre-intervention IL-6 levels were higher in children with stunting than in children with normal stature. There was a greater change in IL-6 in children with severe stunting than in children with normal stature or stunting. IL-10 was significantly reduced after the intervention. Conclusions: In addition to improving body weight and length, Lf supplementation in ONS improved immune response homeostasis by balancing IL-6 and IL-10 levels and by improving the IL-6/IL-10 ratio.ClinicalTrials.gov number ID: NCT05289674, dated May 3 rd 2022.
Subject(s)
Failure to Thrive , Malnutrition , Child, Preschool , Humans , Infant , Body Weight , Cytokines , Growth Disorders , Interleukin-10 , Interleukin-6 , Lactoferrin/therapeutic useABSTRACT
BACKGROUND: Failure to thrive (FTT) is a complex syndrome of nutritional failure and functional decline. Readmission for FTT following cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS HIPEC) is common but underexamined. This study aims to determine features, risk factors, and prognostic significance of FTT following CRS HIPEC. PATIENTS AND METHODS: We reviewed patients who underwent CRS HIPEC from 2010 to 2018 at our institution. Patients were categorized into no readmission, FTT readmission, and other readmission. FTT was determined by coding and chart review. We compared baseline characteristics, oncologic data, perioperative outcomes, and survival among the three cohorts. RESULTS: Of 1068 discharges examined, 379 patients (36%) were readmitted within 90 days, of which 134 (12.5%) were labeled as FTT. Patients with FTT readmission had worse preoperative functional status, higher rates of malnutrition, more complex resections, longer hospital stays, and more postoperative complications (all p < 0.001). Ostomy creation [relative risk ratio (RRR) 4.06], in-hospital venous thromboembolism (VTE), discharge to nursing home (RRR 2.48), pre-CRS HIPEC chemotherapy (RRR 1.98), older age (RRR 1.84), and female gender (RRR 1.69) were all independent predictors for FTT readmission on multinomial regression (all p < 0.01). FTT readmission was associated with worse median overall survival on multivariate analysis [hazard ratio (HR) 1.60, p < 0.001] after controlling for oncologic, perioperative, and baseline factors. CONCLUSIONS: FTT is common following CRS HIPEC and appears to be associated with baseline patient characteristics, operative burden, and postoperative complications. Perioperative strategies for improving nutrition and activity, along with early recognition and intervention in FTT may improve patient outcomes.
Subject(s)
Hyperthermia, Induced , Peritoneal Neoplasms , Combined Modality Therapy , Cytoreduction Surgical Procedures/adverse effects , Failure to Thrive/complications , Female , Humans , Hyperthermia, Induced/adverse effects , Patient Readmission , Peritoneal Neoplasms/surgery , Postoperative Complications/etiology , Retrospective Studies , Survival RateABSTRACT
Cardio-facio-cutaneous syndrome (CFCS) is a rare disorder characterized by distinctive craniofacial appearance, cardiac, neurologic, cutaneous, and musculoskeletal abnormalities. It is due to heterozygous mutations in BRAF, MAP2K1, MAP2K2, and KRAS genes, belonging to the RAS/MAPK pathway. The role of RAS signaling in bone homeostasis is highly recognized, but data on bone mineral density (BMD) in CFCS are lacking. In the present study we evaluated bone parameters, serum and urinary bone metabolites in 14 individuals with a molecularly confirmed diagnosis of CFCS. Bone assessment was performed through dual X-ray absorptiometry (DXA); height-adjusted results were compared to age- and sex-matched controls. Blood and urinary bone metabolites were also analyzed and compared to the reference range. Despite vitamin D supplementation and almost normal bone metabolism biomarkers, CFCS patients showed significantly decreased absolute values of DXA-assessed subtotal and lumbar BMD (p ≤ 0.05), compared to controls. BMD z-scores and t-scores (respectively collected for children and adults) were below the reference range in CFCS, while normal in healthy controls. These findings confirmed a reduction in BMD in CFCS and highlighted the importance of monitoring bone health in these affected individuals.
Subject(s)
Ectodermal Dysplasia , Failure to Thrive , Absorptiometry, Photon , Adult , Bone Density/genetics , Child , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive/genetics , Heart Defects, Congenital , Homeostasis , HumansSubject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Breast Feeding , Child Nutrition Disorders , Failure to Thrive , Food Supply , Micronutrients , Eating , Infant Nutritional Physiological PhenomenaABSTRACT
Abstract Introduction: According to the World Health Organization (WHO) global estimates for 2017, 9.6% of children under 5 years old are stunted. Worldwide evidence shows that actions for preventing stunting and catching-up growth are relevant if addressed by all the sectors involved. Therefore, there is a need to identify 'intersectoral actions' to address the risk of stunting during pregnancy and the first 2 years of life. Objective: To identify and describe worldwide evidence for prevention, nutritional interventions, and 'intersectoral collaboration' efforts against stunting in infants. Materials and methods: We conducted a systematic review in 2019 (PROSPERO CRD42019134431). The search included PubMed, OVID, and Web of Science, as well as WHO and the Food and Agriculture Organization of the United Nations (FAO) official documents and expert recommendations. Results: We selected 231 studies: 86.1% described prevention-related factors, 30.7%, nutritional interventions, and 52.8% intersectoral collaboration efforts; 36.4% of the studies were conducted in multiple regions; 61% of the studies described the importance of interventions during pregnancy, 71.9% from birth up to 6 months old, and 84.8% from 6 months up to 2 years old. The most frequent variables described were antenatal care, nutritional counseling for the mother and the newborn, and counseling on micronutrient supplementation. Conclusions: Evidence-based understanding of actions geared towards monitoring the risk of stunting-associated factors from pregnancy up to 2 years old is critical.
Resumen Introducción. Según estimaciones mundiales de la Organización Mundial de la Salud (OMS) para el 2017, el 9,6 % de los niños menores de cinco años padecen retraso del crecimiento. La evidencia mundial ha demostrado que las acciones para prevenir el retardo del crecimiento o para tratarlo adquieren relevancia si las abordan todos los sectores involucrados. Por lo tanto, es necesario determinar las acciones intersectoriales para atender el riesgo de retraso del crecimiento durante el embarazo y los dos primeros años de vida. Objetivo. Rastrear y describir la evidencia mundial para la prevención, las intervenciones nutricionales y los esfuerzos de colaboración intersectorial contra el retraso del crecimiento en los lactantes. Materiales y métodos: Se hizo una revisión sistemática en el 2019 (PROSPERO CRD42019134431). La búsqueda incluyó PubMed, OVID y Web of Science, así como documentos oficiales de la OMS y la Organización para la Agricultura y la Alimentación de Naciones Unidas (FAO) y recomendaciones de expertos. Resultados. Se seleccionó un total de 231 estudios: 86,1 % describían factores relacionados con la prevención, 30,7 %, intervenciones nutricionales, y 52,8 %, esfuerzos de colaboración intersectorial; 36,4 % de ellos se llevaron a cabo en múltiples regiones. Del total, el 61 % de los estudios se enfocaba en la importancia de las intervenciones durante el embarazo, el 71,9 % desde el nacimiento hasta los seis meses y el 84,8 % desde los seis meses hasta los dos años. Las variables descritas con mayor frecuencia fueron la atención prenatal, el asesoramiento nutricional para la madre y el recién nacido, y el asesoramiento sobre la suplementación con micronutrientes. Conclusiones. La comprensión basada en la evidencia de las acciones orientadas a monitorear el riesgo de factores asociados al retraso del crecimiento desde el embarazo hasta los dos años, es fundamental.
Subject(s)
Child Development , Failure to Thrive , Primary Prevention , Health Status Indicators , Intersectoral Collaboration , MalnutritionABSTRACT
INTRODUCCIÓN: El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2. CASO CLÍNICO: Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral. CONCLUSIONES: Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución. BACKGROUND: Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2. CASE REPORT: We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally. CONCLUSIONS: According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.
Subject(s)
Deglutition Disorders , Electric Stimulation Therapy , Goldenhar Syndrome , Child, Preschool , Deglutition Disorders/therapy , Failure to Thrive , Female , Goldenhar Syndrome/therapy , Humans , Infant , Infant, Newborn , Male , Weight LossABSTRACT
Germline mutations in BRAF and other components of the MAPK pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we report the association of Septo-Optic Dysplasia (SOD) including hypopituitarism and Cardio-Facio-Cutaneous (CFC) syndrome in patients harbouring mutations in BRAF. Phosphoproteomic analyses demonstrate that these genetic variants are gain-of-function mutations leading to activation of the MAPK pathway. Activation of the MAPK pathway by conditional expression of the BrafV600E/+ allele, or the knock-in BrafQ241R/+ allele (corresponding to the most frequent human CFC-causing mutation, BRAF p.Q257R), leads to abnormal cell lineage determination and terminal differentiation of hormone-producing cells, causing hypopituitarism. Expression of the BrafV600E/+ allele in embryonic pituitary progenitors leads to an increased expression of cell cycle inhibitors, cell growth arrest and apoptosis, but not tumour formation. Our findings show a critical role of BRAF in hypothalamo-pituitary-axis development both in mouse and human and implicate mutations found in RASopathies as a cause of endocrine deficiencies in humans.
Subject(s)
Gain of Function Mutation , Hypopituitarism/genetics , Hypothalamus/metabolism , Pituitary Gland/metabolism , Proto-Oncogene Proteins B-raf/genetics , Animals , Cell Cycle Proteins/genetics , Cell Cycle Proteins/metabolism , Cells, Cultured , Child , Child, Preschool , Corticotrophs/cytology , Corticotrophs/metabolism , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive/genetics , HEK293 Cells , Heart Defects, Congenital/genetics , Humans , Infant , MAP Kinase Signaling System/genetics , Melanotrophs/cytology , Melanotrophs/metabolism , Mice, Knockout , Mice, Transgenic , Proto-Oncogene Proteins B-raf/metabolism , Exome Sequencing/methodsABSTRACT
Sodium is an essential nutrient and inadequate sodium intake and/or excessive sodium losses can result in suboptimal growth. Infants with ileostomies are at significant risk of developing growth failure as a result of excessive sodium loss in their ileostomy effluent. Chronic sodium depletion can also limit the kidney's ability to excrete hydrogen and potassium ions, mimicking electrolyte abnormalities found in type 4 renal tubular acidosis. This report describes an infant with an ileostomy with severe growth failure, hyperkalaemia and metabolic acidosis-all of which promptly resolved with sodium supplementation.
Subject(s)
Acidosis, Renal Tubular , Acidosis , Hyponatremia , Acidosis/etiology , Failure to Thrive , Humans , Ileostomy , Infant , SodiumABSTRACT
BACKGROUND: Gabriele-de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild-to-profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of functional and morphologic abnormalities, and intrauterine growth restriction or low birth weight and feeding difficulties are common in the patients. However, NDDs, such as language development disorder and ID, could hardly be assessed in patients younger than 2 years old. METHODS: We describe a 9-month-old female with DD, failure to thrive, and facial dysmorphism. Genetic analysis was conducted by whole exome sequencing (WES) and confirmed by Sanger sequencing. RESULTS: In addition to DD and dysmorphic facial features, this patient had urinary tract infection, acute pyelonephritis, bilateral vesicoureteral reflux (grade III), gastroesophageal reflux, and malnutrition. She was found to have foramen ovale or atrial septal defect, and enlarged left lateral ventricle in the brain. After performing WES, a novel heterozygous mutation NM_003403.5:c.1124G>A, p.Arg375Gln in the YY1 gene was identified. CONCLUSION: Our findings suggest that genetic tests are critical technique for diagnosis of GADEVS, especially in patients with early-childhood, unexplained developmental or growth disorders, thus, the prevalence of GADEVS may be underestimated. The clinical features and identified YY1 mutation in our patient expand the spectra of phenotypes and genotypes of GADEVS, respectively.
Subject(s)
Craniofacial Abnormalities/genetics , Developmental Disabilities/genetics , Failure to Thrive/genetics , YY1 Transcription Factor/genetics , Craniofacial Abnormalities/pathology , Developmental Disabilities/pathology , Failure to Thrive/pathology , Female , Germ-Line Mutation , Haploinsufficiency , Humans , Infant , SyndromeABSTRACT
Background: Infants with ileostomies often suffer from sodium depletion, ultimately leading to a failure to thrive. Moreover, early-infantile microbial dysbiosis may potentially aggravate weight faltering. Given that sodium supplementation has been used to restore weight gain and feeding practices largely determine infantile microbiota, the current study investigated the effect of sodium chloride (NaCl) on weight gain and intestinal microbiome in infants with jejuno- and ileostomies. Methods: A prospective cohort study including 24 neonates with enterostomies compared 19 subjects receiving oral NaCl (5.85%) to five subjects without supplementation with respect to postoperative changes in thrive and the intestinal microbiome. Results: Infants receiving NaCl after enterostomy-surgery showed vastly improved weight gain and an increased abundance of Lactobacillus in fecal samples, as compared to subjects without oral supplement who displayed decreasing percentiles for weight and did not reveal a higher abundance of probiotic strains within the ostomy effluent. Contrarily, Klebsiella was equally enriched in supplemented infants, reflecting a higher susceptibility for infections in preterm neonates. Discussion: Our findings support oral NaCl supplementation as a mainstay of postoperative treatment in infants with small bowel ostomies who are predisposed to suffer from a sodium depletion-associated failure to thrive. Not only does NaCl promote weight gain by increasing glucose resorption, but it also appears to induce microbial restoration by enhancing the abundance of health-promoting probiotic bacteria. This finding has an even greater significance when facing an elevated Klebsiella/Bifidobacteria (K/B) ratio, believed to represent an early-life microbial biomarker for development of allergic disease.
Subject(s)
Dietary Supplements , Gastrointestinal Microbiome , Ileostomy/adverse effects , Sodium Chloride/administration & dosage , Weight Gain/drug effects , Cohort Studies , Failure to Thrive/etiology , Female , Humans , Infant, Newborn , Male , Prospective StudiesABSTRACT
Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.
Subject(s)
Anemia, Megaloblastic , Bone Marrow/pathology , Folic Acid Deficiency , Folic Acid , Vitamin B 12 Deficiency , Vitamin B 12 , Anemia, Megaloblastic/blood , Anemia, Megaloblastic/diagnosis , Anemia, Megaloblastic/etiology , Anemia, Megaloblastic/therapy , Diagnosis, Differential , Early Diagnosis , Early Medical Intervention/methods , Failure to Thrive/diagnosis , Failure to Thrive/etiology , Folic Acid/administration & dosage , Folic Acid/blood , Folic Acid Deficiency/complications , Folic Acid Deficiency/diagnosis , Humans , Infant , Male , Pancytopenia/diagnosis , Pancytopenia/etiology , Prenatal Care/standards , Treatment Outcome , Vitamin B 12/administration & dosage , Vitamin B 12/blood , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis , Vitamins/administration & dosageABSTRACT
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by impaired glucose liver homeostasis and proximal renal tubular dysfunction. It is caused by pathogenic variants in SLC2A2 coding for the glucose transporter GLUT2. Main clinical features include hepatomegaly, fasting hypoglycaemia, postprandial hyperglycaemia, Fanconi-type tubulopathy occasionally with rickets, and a severe growth disorder. While treatment for renal tubular dysfunction is well established, data regarding optimal nutritional therapy are scarce. Similarly, detailed clinical evaluation of treated FBS patients is lacking. These unmet needs were an incentive to conduct the present pilot study. We present clinical findings, laboratory parameters and molecular genetic data on 11 FBS patients with emphasis on clinical outcome under various nutritional interventions. At diagnosis, the patients' phenotypic severity could be classified into two categories: a first group with severe growth failure and rickets, and a second group with milder signs and symptoms. Three patients were diagnosed early and treated because of family history. All patients exhibited massive glucosuria at diagnosis and some in both groups had fasting hypoglycaemic episodes. Growth retardation improved drastically in all five patients treated by intensive nutritional intervention (nocturnal enteral nutrition) and uncooked cornstarch with final growth parameters in the normal range. The four severely affected patients who were treated with uncooked cornstarch alone did not catch up growth. All patients received electrolytes and l-carnitine supplementation to compensate for the tubulopathy. This is one of the largest series of FBS on therapeutic management with evidence that nocturnal enteral nutrition rescues growth failure.
Subject(s)
Enteral Nutrition/methods , Failure to Thrive/diet therapy , Fanconi Syndrome/complications , Adolescent , Adult , Child , Child, Preschool , Fanconi Syndrome/genetics , Female , Glucose Transporter Type 2/genetics , Humans , Male , Pilot Projects , Treatment Outcome , Young AdultABSTRACT
PROBLEM: Despite knowing the importance of the early detection of adverse experiences, mental health disorders beginning or occurring during early childhood can be difficult to recognize. To address this gap, this manuscript describes the care of a parent-child dyad utilizing the nursing process in an illustrative case. METHODS: This illustrative case provides a scenario that includes the early detection of infant mental health (IMH) in primary care with referral to a psychiatric mental health advanced practice nurse (PMHNP) and highlights how integrative care with PMHNP can facilitate the use of the nursing process to promote optimal early childhood growth and development and prevent long-term mental health problems. FINDINGS: The collaboration between the primary care provider and PMHNP in addressing a common diagnosis observed in IMH (i.e., feeding disorder) where a 6-month-old infant presented with poor weight gain due to detached parenting, secondary to maternal depression, resulted in early infant-parent intervention that reduced maternal depression and normalized infant growth. CONCLUSIONS: The screening of IMH in pediatric primary care promotes early referral and collaboration with the PMHNP to address IMH problems to promote optimal growth and social-emotional development in early childhood.
Subject(s)
Advanced Practice Nursing , Depressive Disorder, Major/diagnosis , Failure to Thrive/diagnosis , Maternal Behavior , Mother-Child Relations , Psychiatric Nursing , Reactive Attachment Disorder/diagnosis , Referral and Consultation , Adult , Advanced Practice Nursing/methods , Delivery of Health Care, Integrated , Early Diagnosis , Female , Humans , Infant , Male , Pediatric Nursing/methods , Psychiatric Nursing/methods , Young AdultABSTRACT
The VARS2 gene encodes a mitochondrial valyl-transfer RNA synthetase which is used in mitochondrial translation. To date, several patients with VARS2 pathogenic variants have been described in the literature. These patients have features of lactic acidosis with encephalomyopathy. We present a case of an infant with lactic acidosis, failure to thrive, and severe primary pulmonary hypertension who was found to be a compound heterozygote for two novel VARS2 variants (c.1940C>T, p.(Thr647Met) and c.2318G>A, p.(Arg773Gln)). The patient was treated with vitamin supplements and a carbohydrate-restricted diet. The lactic acidosis and failure to thrive resolved, and he showed good growth and development. Functional studies and molecular analysis employed a yeast model system and the VAS1 gene (yeast homolog of VARS2). VAS1 genes harboring either one of two mutations corresponding to the two novel variants in the VARS2 gene, exhibited partially reduced function in haploid yeast strains. A combination of both VAS1 variant alleles in a diploid yeast cell exhibited a more significant decrease in oxidative metabolism-dependent growth and in the oxygen consumption rate (reminiscent of the patient who carries two mutant VARS2 alleles). Our results demonstrate the pathogenicity of the biallellic novel VARS2 variants. KEY MESSAGES: ⢠A case of an infant who is a compound heterozygote for two novel VARS2 variants. ⢠This infant displayed lactic acidosis, failure to thrive, and pulmonary hypertension. ⢠Treatment of the patient with a carbohydrate-restricted diet resulted in good growth and development. ⢠Studies with the homologous yeast VAS1 gene showed reduced function of corresponding single mutant in haploid yeast strains. ⢠A combination of both VAS1 variant alleles in diploid yeast exhibited a more significant decrease in function, thereby confirming the pathogenicity of the biallellic novel VARS2 variants.
Subject(s)
Failure to Thrive/genetics , Failure to Thrive/metabolism , HLA Antigens/genetics , Hypertension, Pulmonary/genetics , Hypertension, Pulmonary/metabolism , Mitochondrial Diseases/genetics , Mitochondrial Diseases/metabolism , Valine-tRNA Ligase/genetics , Alleles , Amino Acid Sequence , Heterozygote , Humans , Infant , Male , Mutation/genetics , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/metabolism , Sequence Analysis, DNAABSTRACT
Intrauterine transfusion is one of the mainstays of treatment in isoimmunised pregnancies guided by the changes in middle cerebral artery Doppler of the fetus. The common postnatal complications associated with Rh isoimmunisation are high unconjugated bilirubin requiring blood exchange transfusions, cholestasis due to bile inspissation, thrombocytopenia and anaemia. Hyperferritinaemia is an uncommon adverse effect observed in Rh isoimmunised pregnancies. In this case report, we describe the clinical course of a Rh isoimmunised neonate with hyperferritinaemia and transfusion acquired cytomegalovirus disease which resolved. Iron chelation therapy was not necessary.
Subject(s)
Blood Transfusion, Intrauterine/adverse effects , Failure to Thrive/therapy , Iron Overload/diagnosis , Phototherapy/methods , Pregnancy Complications, Hematologic/therapy , Rh Isoimmunization/therapy , Adult , Antiviral Agents/therapeutic use , Bilirubin/blood , Blood Flow Velocity , Blood Transfusion, Intrauterine/methods , Failure to Thrive/physiopathology , Female , Ferritins/blood , Humans , Infant, Newborn , Iron Overload/physiopathology , Iron Overload/therapy , Middle Cerebral Artery , Pregnancy , Pregnancy Complications, Hematologic/physiopathology , Rh Isoimmunization/complications , Rh Isoimmunization/physiopathology , Treatment Outcome , Valganciclovir/therapeutic useABSTRACT
BACKGROUND: We aimed to analyze the effect of oral zinc supplementation on serum insulin-like growth factor-1 (IGF-1) levels and catch-up growth in infants with non-organic failure to thrive (NOFTT) who were born preterm as compared to those born at term. METHODS: Totally, 105 NOFTT infants aged 2 years or less were enrolled and divided into two groups according to gestational age at birth. Oral zinc sulfate was administered for 6 months to 49/66 children born at term, and 21/39 children born preterm. Serum zinc, IGF-1, weight, and height were measured at baseline and at 6 months. RESULTS: There were no differences in baseline serum zinc levels between the two groups. In preterm NOFTT infants, zinc supplementation significantly increased serum zinc levels compared to those in the non-supplementation group (Δ zinc 0-6 month 10.3 ± 26.4 µg/dL vs. -8.8 ± 23.7 µg/dL, p = 0.018), but it did not significantly change serum IGF-1 levels or weight- and height for age Z-scores. In NOFTT infants born at term who received zinc supplementation, serum zinc levels, IGF-1, weight for age Z-score, and height for age Z-score increased at 6 months (p = 0.001, p = 0.014, p = 0.049, and p = 0.029, respectively), but this increase was not significantly greater than in the non-supplementation group. Only the increase in serum zinc levels was significant after 6 months (Δ zinc 0-6 month 16.8 ± 32.0 µg/dL vs. -10.0 ± 22.6 µg/dL, p = 0.002). CONCLUSION: Zinc supplementation in NOFTT infants improves serum zinc status, regardless of gestational age at birth. Zinc supplementation in NOFTT infants born at term may improve serum IGF-1 levels and growth, but it does not in NOFTT infants born preterm. Overall nutritional support rather than supplementation of a single nutrient may be more effective for catch-up growth in NOFTT infants born preterm.
Subject(s)
Failure to Thrive/physiopathology , Infant, Premature/growth & development , Zinc/administration & dosage , Administration, Oral , Child, Preschool , Dietary Supplements , Female , Gestational Age , Humans , Infant , Infant, Newborn , Insulin-Like Growth Factor I/analysis , Male , Term Birth , Zinc/bloodABSTRACT
It is intriguing to note that majority of the wasting among the under 5 yr in India is present at birth. The National Family Health Survey 4 (NFHS-4) data analysis shows 31.9 per cent wasting at birth, which is decreasing to 17.7 per cent in the under five children; clearly suggesting that any reduction in wasting should come from improvement in foetal growth. In addition, children with both severe wasting and severe stunting, in whom the risk of mortality increases many folds, are <1 per cent in almost all the States; and these are the children in whom special care is required under the community-based management of severe acute malnutrition. This article presents an overview of nutrition status in children, their antecedents, and the critical phases; especially, nutrition status before pregnancy that plays a crucial role in all the nutrition status indicators of children. More attention on the critical phases is crucial to maximize the benefits from national programmes.
Subject(s)
Failure to Thrive , Malnutrition , Child , Failure to Thrive/epidemiology , Failure to Thrive/etiology , Failure to Thrive/prevention & control , Health Surveys , Humans , India/epidemiology , Malnutrition/complications , Malnutrition/epidemiology , Malnutrition/prevention & control , National Health Programs , Nutritional StatusABSTRACT
Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.