Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 13 de 13
Filter
1.
J Sleep Res ; 31(6): e13684, 2022 12.
Article in English | MEDLINE | ID: mdl-35790464

ABSTRACT

Studies describing paediatric sleep patterns are needed by taking culture into consideration. The aim of this study was to identify parent-reported sleep-wake patterns in young children and explore possible factors influencing sleep problems. The mothers of 2,434 young children enrolled from well-child outpatient clinics in Turkey completed an online survey including sociodemographic variables, Brief Infant Sleep Questionnaire, Edinburgh Postnatal Depression Scale and Generalised Anxiety Disorder scales. Overall, young children in Turkey go to bed late (10:00 p.m.), awaken twice per night for 30 min, and obtain 11.5 h of total sleep, showing no sex-specific differences. Distinct night-time sleep patterns emerged after 18 months of age. Importantly, although currently breastfed healthy children were 3.8-times less likely to sleep through the night, total sleep duration and exclusive breastfeeding duration were higher in children who were not sleeping through the night. Overall, bedsharing was identified in 11.5%, and only room sharing was reported in 52.9%. Parental perception of a child's sleep as problematic was 35.8%. Mothers with higher educational attainment were more likely to perceive their children's sleep as a problem. Maternal depressive and anxious symptoms and a history of excessive infant crying were the determinants predicting the likelihood of both parent-perceived sleep problems and poor sleepers. The present analysis of sleep structure in infancy and toddlerhood provides reference data for well-child visits. These findings highlight the importance of considering maternal anxiety, depression and behaviour management techniques to cope with fussy infants in addressing childhood behavioural sleep problems.


Subject(s)
Sleep Wake Disorders , Sleep , Infant , Female , Child , Humans , Child, Preschool , Cross-Sectional Studies , Mothers , Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/diagnosis , Primary Health Care
2.
Turk Arch Pediatr ; 56(2): 164-172, 2021 Mar.
Article in English | MEDLINE | ID: mdl-34286328

ABSTRACT

OBJECTIVE: Breast milk is the ideal food that meets all kinds of nutritional contents of babies. The World Health Organization recommends that all babies be fed exclusively breastfeeding for the first 6 months. This study aimed to evaluate the relationship between the perception of breast milk of mothers and fathers with term babies and exclusively breastfeeding status in the first 6 months and to investigate the factors affecting exclusively breastfeeding status. MATERIAL AND METHODS: Our longitudinal type study includes healthy/term infants and their parents born between 1 July-30 September 2018. In the postpartum period "adult's perception level of breast milk scale" was completed by the parents. The nutritional properties of the babies were recorded by reaching the families by phone when they were 2, 4, and 6 months old. Of the 341 families that participated in the study, 332 were evaluated and the study was completed with 304, 297, and 292 families at the 2nd, 4th, and 6th months, respectively. RESULTS: Exclusively breastfeeding ratio was 85.5%, 68%, and 50% in the 2nd, 4th, and 6th months, respectively. The mean score of the mothers on perception level of milk scale was significantly higher than the fathers (133.97±10.01 vs 123.91±13.41, p<0.001, respectively). The scale score of the mothers receiving breastfeeding training was significantly higher than the mothers without training (135.19±8.55 vs 130.91±12.25, respectively, p=0.008). The mode of delivery is related to the level of perception of breast milk of mothers and fathers. Mothers who had the last cesarean section had lower scale scores than those who delivered normally (131.71±12.11 vs 134.94±8.80, respectively, p=0.007). In the fathers whose spouse had a cesarean section, the scale scores were significantly higher than those whose spouses had normal delivery (126.42±12.73 vs 122.83±13.57, p=0.026, respectively). There was no correlation between exclusively breastfeeding status and breastmilk perception levels of the parents in the first 6 months. The mother's breastfeeding her previous child for ≥6 months and the use of pacifier/baby bottle were associated with exclusively breastfeeding status in the first 6 months. CONCLUSION: Fathers should be included in breastmilk and breastfeeding training.

3.
Brain Dev ; 42(5): 418-420, 2020 May.
Article in English | MEDLINE | ID: mdl-32173091

ABSTRACT

We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. We conclude that although serum CK elevation is a useful indicator for the early detection of NMS, normal serum CK levels may be seen during the NMS course in the presence of GAMT deficiency.


Subject(s)
Creatine Kinase/blood , Dopamine Antagonists/adverse effects , Guanidinoacetate N-Methyltransferase/deficiency , Language Development Disorders/drug therapy , Movement Disorders/congenital , Neuroleptic Malignant Syndrome/blood , Risperidone/adverse effects , Child , Humans , Male , Movement Disorders/drug therapy , Neuroleptic Malignant Syndrome/diagnosis
4.
Breastfeed Med ; 14(7): 487-492, 2019 09.
Article in English | MEDLINE | ID: mdl-31150283

ABSTRACT

Background: Breast milk Chitotriosidase (Chit 1) shows antifungal effect and has an active role in the natural immune response against certain pathogens. The aim of this study was to compare colostrum Chit 1 levels from mothers of term and preterm infants. Materials and Methods: The study included 72 mothers of 32 preterm and 40 term infants (gestational age; 33.7 ± 1.8 vs. 39.1 ± 1.1 weeks, birth weight; 1931.7 ± 539.8 vs. 3350.9 ± 419.7 g). Breast milk samples were taken at postnatal 24-48 hours. Chit 1 level was evaluated with the quantitative calorimetric method. Results: No significant difference was determined between the term and preterm groups in terms of maternal age, education level, weight gain in pregnancy, and body mass index (BMI). The median colostrum Chit 1 level was higher in the preterm group, but the difference was not statistically significant between two groups (p = 0.43). There is no association between colostrum Chit 1 level, maternal age, gravida, BMI, infant gender, income level, and pre-eclampsia. The colostrum Chit 1 level of mothers who had weight gain exceeding the recommended limits was significantly lower than mothers with weight gain within the recommended limits in the term group (4346.2 vs. 4914.2, p = 0.021). A negative correlation was determined between the birthweight of term infants and the colostrum Chit 1 levels (p = 0.045, r = -0.319). Conclusion: Although the data need to be validated by further investigation, the observations made in this study seem to indicate that colostrum Chit-1 may have role in the protection of preterm infants.


Subject(s)
Breast Feeding , Colostrum/metabolism , Hexosaminidases/metabolism , Mothers , Adult , Calorimetry , Colostrum/immunology , Female , Gestational Age , Health Surveys , Hexosaminidases/immunology , Humans , Infant , Infant Nutritional Physiological Phenomena , Infant, Newborn , Infant, Premature , Premature Birth , Term Birth
5.
Turk J Pediatr ; 61(5): 686-696, 2019.
Article in English | MEDLINE | ID: mdl-32105000

ABSTRACT

Genç SÖ, Karakus S, Çetin A, Çetin M, Dogan HO, Ünver Korgali E. Serum Bcl-2, caspase-9 and soluble FasL levels as perinatal markers in late preterm pregnancies with intrauterine growth restriction. Turk J Pediatr 2019; 61: 686-696. Intrauterine growth restriction (IUGR) is the inability of the fetus to grow and develop in the expected pattern. It occurs in about 5% of pregnancies and is associated with severe fetal mortality and morbidity. Affected infants are also highly vulnerable to diseases such as perinatal asphyxia, cerebral palsy, meconium aspiration syndrome, coagulation disorders, and immune system disorders that require long-term treatment. Apoptosis is thought to play a key role in the etiopathogenesis of IUGR. In conclusion, fetal complications are thought to be related to the severity of apoptosis in pregnancies complicated with IUGR. The aim of the study was to test the measurability of the severity of apoptosis using Bcl-2, caspase-9, soluble Fas ligand (sFasL) markers and the maternal blood sample in addition to the diagnostic methods commonly used to diagnose IUGR; and to decrease the rates of adverse perinatal outcomes due to IUGR and to evaluate the fetal well-being status without feeling a need for invasive procedures. One hundred and fifty-nine late preterm pregnancies were included in the study. Eighty were diagnosed with IUGR and the others were the control group. During delivery, maternal and umbilical cord blood samples were taken. Bcl-2, caspase-9, sFasL marker levels in maternal and umbilical cord sera were determined using ELISA method. Bcl-2 levels were found to be significantly high in the maternal and umbilical cord sera in the IUGR group. There was also no significant difference between umbilical cord sera of the two groups in terms of sFasL and caspase-9 levels. The results suggest that maternal serum Bcl-2 levels may also be helpful in the diagnosis of IUGR when used besides the ultrasonographic findings. Multicenter studies with large patient groups will increase knowledge in this area.


Subject(s)
Caspase 9/blood , Fas Ligand Protein/blood , Fetal Growth Retardation/diagnosis , Premature Birth , Proto-Oncogene Proteins c-bcl-2/blood , Biomarkers/blood , Enzyme-Linked Immunosorbent Assay , Female , Fetal Blood , Fetal Growth Retardation/blood , Humans , Infant, Newborn , Male , Pregnancy , Prospective Studies
6.
Arch. argent. pediatr ; 116(6): 736-743, dic. 2018. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-973688

ABSTRACT

Introducción.La vitamina D afecta la eritropoyesis.Objetivo: evaluar, en niños de 6 meses a 5 años, la asociación entre concentraciones de 25-hidroxi vitamina D (25-OHD) en la madre/niño, ferropenia y anemia ferropénica (AF). Población y métodos. Se incluyeron los niños que asistieron a la consulta entre septiembre de 2014 y enero de 2016. Se excluyeron aquellos con infección aguda/crónica, desnutrición, enfermedades crónicas y prematuros. Se realizó hemograma, hierro sérico, capacidad fijación del hierro, ferritina y 25-OHD. Se investigó suplemento con hierro y vitamina D durante lactancia y embarazo.Resultados. Se incluyeron 117 niños: 67 tenían ferropenia/AF [Grupo 1, edad (años): 2,05 ± 1,24 (0,5-5)] y 50 niños sanos [Grupo 2, edad (años): 1,87 ± 1,12 (0,58-5)]. Más niños y madres tuvieron deficiencia de vitamina D en Grupo 1 que en Grupo 2 (niños, 49,3 % vs 20 %, p = 0,002, y madres: 94 % vs 64 %; p= < 0,001, respectivamente). Hubo correlación positiva entre la hemoglobina en niños y la 25-OHD en madres/niños. Factores independientes de riesgo de AF fueron más tiempo de lactancia (OR: 0,35; IC 95 % [0,155-0,789]; p = 0,011), más breve suplementación con hierro durante la lactancia (OR: 1,69; IC 95 % [1,148-2,508]; p = 0,008) y embarazo (OR: 1,39; IC 95 % [1,070-1,820]; p = 0,014) y concentraciones < 25-OHD en madres (OR: 1,16; IC del 95 % [1,034-1,292]; p = 0,011). Conclusiones. La deficiencia de vitamina D en madres/niños está asociada con ferropenia/AFen los niños.


Introduction. Vitamin D (VitD) affects the erythropoiesis. The aim of this study was to evaluate the association between maternal/child 25-OH VitD (25-OHD) levels and iron deficiency (ID) and anemia (IDA) in children aged 6 months-5 years. Population and methods. Between September 2014 and January 2016 children who were admitted to outpatient clinic were included to study. We excluded the children with acute or chronic infection, malnutrition, chronic disease and preterm birth history. Complete blood count, serum iron, total iron binding capacity, ferritin, 25-OHD levels were examined from children and their mothers. Iron and VitD supplementation during infancy and pregnancy and breastfeeding history were questioned.Results. The study included totally 117 children. There were 67 children with ID/IDA [Group 1, mean age (years):2.05±1.24 (0.5-5)] and 50 normal children [Group 2, mean age (years): 1.87±1.12 (0.58-5)]. There were more VitD deficient children and mothers in Group 1 than in Group 2 (respectively, children 49.3 % vs. 20 % p=0.002; mothers 94 % vs.64 %, p=<0.001). There was a positive correlation between hemoglobin levels of children and maternal/child 25-OHD. The independent risk factors for IDA in children were longer exclusively breastfeeding time (odds ratio [OR], 0.35; 95 % confidence interval [CI], 0.155-0.789; p=0.011), shorter duration of regular iron supplementation during infancy and pregnancy (infancy: OR,1.69; 95 % CI 1.148-2.508; p=0.008. pregnancy: OR,1.39; 95 % CI,1.070-1.820; p=0.014) and lower maternal 25-OHD level (OR,1.16; 95 % CI,1.034-1.292; p=0.011). Conclusions. Maternal/child VitD deficiency is associated with ID/IDA in children aged 6 months-5 years.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Vitamin D/blood , Vitamin D Deficiency/complications , Anemia, Iron-Deficiency/epidemiology , Iron/deficiency , Time Factors , Vitamin D/administration & dosage , Vitamin D Deficiency/epidemiology , Breast Feeding/statistics & numerical data , Hemoglobins/analysis , Pregnancy , Risk Factors , Dietary Supplements , Ferritins/blood , Iron/blood
7.
Arch Argent Pediatr ; 116(6): e736-e743, 2018 12 01.
Article in English, Spanish | MEDLINE | ID: mdl-30457722

ABSTRACT

INTRODUCTION: Vitamin D (VitD) affects the erythropoiesis. The aim of this study was to evaluate the association between maternal/child 25-OH VitD (25-OHD) levels and iron deficiency (ID) and anemia (IDA) in children aged 6 months-5 years. POPULATION AND METHODS: Between September 2014 and January 2016 children who were admitted to outpatient clinic were included to study. We excluded the children with acute or chronic infection, malnutrition, chronic disease and preterm birth history. Complete blood count, serum iron, total iron binding capacity, ferritin, 25-OHD levels were examined from children and their mothers. Iron and VitD supplementation during infancy and pregnancy and breastfeeding history were questioned. RESULTS: The study included totally 117 children. There were 67 children with ID/IDA [Group 1, mean age (years):2.05±1.24 (0.5-5)] and 50 normal children [Group 2, mean age (years): 1.87±1.12 (0.58-5)]. There were more VitD deficient children and mothers in Group 1 than in Group 2 (respectively, children 49.3 % vs. 20 % p=0.002; mothers 94 % vs.64 %, p=<0.001). There was a positive correlation between hemoglobin levels of children and maternal/child 25-OHD.The independent risk factors for IDA in children were longer exclusively breastfeeding time (odds ratio [OR], 0.35; 95 % confidence interval [CI], 0.1550.789; p=0.011), shorter duration of regular iron supplementation during infancy and pregnancy (infancy: OR,1.69; 95 % CI 1.148-2.508; p=0.008. pregnancy: OR,1.39; 95 % 0,1.070-1.820; p=0.014) and lower maternal 25-OHD level (OR,1.16; 95 % 0,1.034-1.292; p=0.011). CONCLUSIONS: Maternal/child VitD deficiency is associated with ID/IDA in children aged 6 months-5 years.


Introducción. La vitamina D afecta la eritropoyesis. Objetivo: evaluar, en niños de 6 meses a 5 años, la asociación entre concentraciones de 25-hidroxi vitamina D (25-OHD) en la madre/niño, ferropenia y anemia ferropénica (AF). Población y métodos. Se incluyeron los niños que asistieron a la consulta entre septiembre de 2014 y enero de 2016. Se excluyeron aquellos con infección aguda/crónica, desnutrición, enfermedades crónicas y prematuros. Se realizó hemograma, hierro sérico, capacidad fijación del hierro, ferritina y 25-OHD. Se investigó suplemento con hierro y vitamina D durante lactancia y embarazo. Resultados. Se incluyeron 117 niños: 67 tenían ferropenia/AF |#91;Grupo 1, edad (años): 2,05 ± 1,24 (0,5-5)|#93; y 50 niños sanos |#91;Grupo 2, edad (años): 1,87 ± 1,12 (0,58-5)|#93;. Más niños y madres tuvieron deficiencia de vitamina D en Grupo 1 que en Grupo 2 (niños, 49,3 % vs 20 %, p=0,002, y madres: 94 % vs 64 %; p= < 0,001, respectivamente). Hubo correlación positiva entre la hemoglobina en niños y la 25-OHD en madres/niños. Factores independientes de riesgo de AF fueron más tiempo de lactancia (OR: 0,35; IC 95 % |#91;0,1550,789|#93;; p = 0,011), más breve suplementación con hierro durante la lactancia (OR: 1,69; IC 95 % |#91;1,148-2,508|#93;; p = 0,008) y embarazo (OR: 1,39; IC 95 % |#91;1,070-1,820|#93;; p = 0,014) y concentraciones < 25-OHD en madres (OR: 1,16; IC del 95 % |#91;1,034-1,292|#93;; p = 0,011). Conclusiones. La deficiencia de vitamina D en madres/niños está asociada con ferropenia/AF en los niños.


Subject(s)
Anemia, Iron-Deficiency/epidemiology , Iron Deficiencies , Vitamin D Deficiency/complications , Vitamin D/blood , Breast Feeding/statistics & numerical data , Dietary Supplements , Female , Ferritins/blood , Hemoglobins/analysis , Humans , Infant , Iron/blood , Male , Pregnancy , Risk Factors , Time Factors , Vitamin D/administration & dosage , Vitamin D Deficiency/epidemiology
8.
Turk J Pediatr ; 60(1): 102-106, 2018.
Article in English | MEDLINE | ID: mdl-30102489

ABSTRACT

Kaymak-Cihan M, Erdis E, Bozkurt S, Ünver-Korgali E. Pediatric primary anaplastic ganglioglioma with malignant neuronal component. Turk J Pediatr 2018; 60: 102-106. Gangliogliomas (GGs) represent approximately 0.4%-1.0% of all brain tumors. Anaplastic gangliogliomas (AGGs) form 5-10% of all GGs. They are a mixed neuronal-glial tumor of central nervous system and composed by two cell lines; neuronal (ganglionic) and glial cells. Anaplastic component of AGGs is usually glial cells. Malignant neuronal component is a rare condition. Here we report an 8-year-old male patient who was diagnosed with primary AGG with malignant neuronal component and was treated with surgery, adjuvant radiotherapy and chemotherapy.


Subject(s)
Brain Neoplasms/diagnostic imaging , Frontal Lobe/diagnostic imaging , Ganglioglioma/diagnostic imaging , Brain Neoplasms/pathology , Brain Neoplasms/therapy , Child , Combined Modality Therapy , Frontal Lobe/pathology , Ganglioglioma/pathology , Ganglioglioma/therapy , Humans , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Male , Neoplasm Grading
9.
Fetal Pediatr Pathol ; 37(2): 109-116, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29608093

ABSTRACT

INTRODUCTION: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. CASE REPORT: This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected. CONCLUSION: This previously unreported c.532C>A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.


Subject(s)
Abnormalities, Multiple/genetics , Actins/genetics , Colon/abnormalities , Intestinal Pseudo-Obstruction/genetics , Urinary Bladder/abnormalities , Female , Humans , Infant, Newborn , Mutation
10.
Indian J Hematol Blood Transfus ; 33(4): 552-558, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29075068

ABSTRACT

Iron overload in ß-thalassemia major and intermedia patients leads to oxidative stress and causes to formation of lipid hydroperoxides. Thiobarbituric acid reactive substances (TBARS) are a well established method for screening and monitoring of lipid peroxidation. We aimed to investigate serum TBARS and its relationship with biochemical and hematologic parameters of Turkish and immigrant Syrian ß-thalassemia children reflecting the effects of this socioeconomic condition on follow up of these patients. Lipid peroxidation products (TBARS) of Turkish (TR) (n = 62, from the cities of Gaziantep and Sivas, Turkey) and Syrian (SYR) (n = 34, from Gaziantep, Turkey) ß-thalassemia patients aged 2-17 years and 58 healthy subjects aged 2-16 years were studied. Liver and renal function tests, serum ferritin levels, white blood cell, absolute neutrophil and platelet counts, hemoglobin (Hb) levels of the patients were analyzed. Serum TBARS concentrations were found to be elevated in ß-thalassemia patients compared to healthy subjects (mean: 12.47 ± 8.53 vs. 9.78 ± 7.09, p = 0.045). In SYR patients mean pretransfusional Hb level (7.26.2.04 vs. 8.49 ± 1.01, p = 0.002) was lower and ferritin levels (5983.56 ± 5065.56 vs. 3234.60 ± 2237.82, p = 0.001), liver enzymes (ALT: 77.82 ± 76.48 vs. 42.13 ± 51.50, p = 0.005) were higher when compared to TR group. Positive correlation between TBARS and ferritin levels (p = 0.029, r = 0.231) and liver enzymes (for ALT p < 0.001, r = 0.373) was observed. ß-thalassemia patients are under more oxidative stress than healthy subjects. Liver is one of the major organs which are mainly affected by oxidative stress. War and migration might have caused inappropriate transfusion conditions and insufficient chelation therapy in the SYR group.

11.
Turkiye Parazitol Derg ; 41(2): 126-129, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28695838

ABSTRACT

Cystic echinococcosis (CE) is a zoonotic disease; in places such as Turkey where livestock is common, it is an endemic health concern. The most commonly involved organ is the lungs in children. Pulmonary cysts can be asymptomatic; in some cases, they may rupture and become symptomatic. Ruptured lung hydatid cysts may often be confused with tuberculosis (Tbc) radiologically and clinically. . In this report, we present an 8-year-old female patient admitted with cough, fever, and sputum persisting since 2 weeks; her chest radiography and computed tomography (CT) findings initially indicated Tbc, but the follow-up surgery led to a diagnosis of ruptured lung CE. We want to emphasize that in children belonging to places where livestock is common, if respiratory symptoms are observed, CE and tuberculosis must be considered in the differential diagnosis, and the final diagnosis should be supported by other microbiological-serological tests.


Subject(s)
Echinococcosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/diagnosis , Blood Sedimentation , C-Reactive Protein/analysis , Child , Diagnosis, Differential , Echinococcosis, Pulmonary/diagnostic imaging , Female , Fever , Humans , Radiography , Sputum , Tomography, X-Ray Computed , Tuberculosis, Pulmonary/diagnostic imaging , Turkey
12.
Breastfeed Med ; 12: 5-11, 2017.
Article in English | MEDLINE | ID: mdl-27991839

ABSTRACT

OBJECTIVES: The aim of this study was to reveal the frequency, presenting complaints, risk factors, complications, and ways for prevention of hypernatremic dehydration (HD) among term breastfed infants. METHODS: The files of 159 breastfed term infants hospitalized because of HD between the years 2009 and 2014 were examined retrospectively in the Neonatal Intensive Care Unit of Sivas State Hospital, Turkey. The patients were classified according to serum sodium (Na) levels, group 1 (Na: 146-149 mEq/L, n = 68) and group 2 (Na ≥150 mEq/L, n = 91). RESULTS: The most common complaint was fever (67.9%), and the most common physical finding was oral mucosal dryness (76%). There were positive correlations between serum Na levels and weight loss, hospital stay, admission age, admission to neonatal unit after discharge, serum urea levels, and body temperature (p < 0.05). The normalization period of Na levels was significantly longer (21.7 ± 8.8 versus 29.3 ± 17.8 hours, p = 0.03), and Na reduction rate was faster in group 2 (0.41 ± 0.3 versus 0.50 ± 0.3 mEq/L/hour, p = 0.02). Bradycardia was seen more commonly in group 2 (1.5% versus 16.5%, p = 0.002). CONCLUSIONS: HD is a significant condition that should be treated appropriately to avoid serious complications.


Subject(s)
Breast Feeding/adverse effects , Dehydration/etiology , Dehydration/therapy , Developmental Disabilities/prevention & control , Hypernatremia/complications , Hypernatremia/therapy , Adult , Critical Care/methods , Dehydration/physiopathology , Developmental Disabilities/etiology , Developmental Disabilities/physiopathology , Early Diagnosis , Female , Fluid Therapy/methods , Humans , Hypernatremia/blood , Hypernatremia/physiopathology , Incidence , Infant , Infant, Newborn , Infusions, Intravenous , Intensive Care Units, Neonatal , Male , Rehydration Solutions/therapeutic use , Retrospective Studies , Sodium/blood , Turkey , Weight Loss
13.
J Pediatr Hematol Oncol ; 38(4): 324-8, 2016 05.
Article in English | MEDLINE | ID: mdl-26808373

ABSTRACT

Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear.


Subject(s)
Blood Platelets/pathology , Glucose-6-Phosphatase/genetics , Mutation , Neutropenia/congenital , Blood Specimen Collection , Congenital Bone Marrow Failure Syndromes , Humans , Infant, Newborn , Male , Neutropenia/blood , Neutropenia/enzymology , Neutropenia/genetics
SELECTION OF CITATIONS
SEARCH DETAIL
...