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We investigated the effect of hypocalcemia on plasma renin, aldosterone, and urine PGE2 levels in children with vitamin D deficiency rickets (VDDR). In the study group, 25 patients with VDDR-induced hypocalcemia were treated with a single dose of 150,000-300,000 IU cholecalciferol and 50 mg/kg/day elemental Ca for 10 days. On any day between 21th and 30th days after the treatment, the patients' clinical, biochemical and radiologic findings were re-evaluated. The healthy children with the same sex and similar age as the study group comprised the control group. Plasma sodium (Na), potassium (K), calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone (PTH), 25- hydroxy vitamin D (25OHD), renin, aldosterone; and urinary Ca, creatinine (Cr) and prostaglandin E2 (PGE2) levels were measured in both the study (pre-treatment and post-treatment) and the control group. Plasma Ca, P, 25OHD and renin levels and urinary PGE2/Cr ratio in the post-treatment group were significantly higher than those in the pre-treatment group while K, ALP, and PTH concentrations were significantly lower. Plasma ALP and PTH levels in pre-treatment group were significantly higher than in the control group while Ca, P, 25OHD, aldosterone and renin concentrations and urinary PGE2/Cr ratio were significantly lower. Post-treatment plasma Ca level was significantly decreased in normal limits compared to the control group while other biochemical parameters were not different from the control group. Plasma Ca concentration was positively correlated with renin level and urinary PGE2/Cr ratio. The findings suggest that hypocalcemia may inhibit the production of renin, aldosterone and PGE2 and a blunt aldosterone secretion may develop even after recovery from hypocalcemia.
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Hipocalcemia , Raquitismo , Deficiência de Vitamina D , Aldosterona/uso terapêutico , Fosfatase Alcalina/uso terapêutico , Cálcio/uso terapêutico , Cálcio/urina , Criança , Colecalciferol/uso terapêutico , Creatinina/uso terapêutico , Dinoprostona/uso terapêutico , Humanos , Hipocalcemia/tratamento farmacológico , Hormônio Paratireóideo/uso terapêutico , Fósforo/uso terapêutico , Potássio/uso terapêutico , Prostaglandinas E/uso terapêutico , Prostaglandinas E/urina , Renina/uso terapêutico , Raquitismo/tratamento farmacológico , Sódio , Vitamina D/uso terapêutico , Deficiência de Vitamina D/tratamento farmacológicoRESUMO
Multisystemic inflammatory syndrome (MIS-C) diagnosis remains difficult because the clinical features overlap with Kawasaki disease (KD). The study aims to highlight the clinical and laboratory features and outcomes of patients with MISC whose clinical manifestations overlap with or without KD. This study is a retrospective analysis of a case series designed for patients aged 1 month to 18 years in 28 hospitals between November 1, 2020, and June 9, 2021. Patient demographics, complaints, laboratory results, echocardiographic results, system involvement, and outcomes were recorded. A total of 614 patients were enrolled; the median age was 7.4 years (interquartile range (IQR) 3.9-12 years). A total of 277 (45.1%) patients with MIS-C had manifestations that overlapped with KD, including 92 (33.3%) patients with complete KD and 185 (66.7%) with incomplete KD. Lymphocyte and platelet counts were significantly lower in patients with MISC, overlapped with KD (lymphocyte count 1080 vs. 1280 cells × µL, p = 0.028; platelet count 166 vs. 216 cells × 103/µL, p < 0.001). The median serum procalcitonin levels were statistically higher in patients overlapped with KD (3.18 vs. 1.68 µg/L, p = 0.001). Coronary artery dilatation was statistically significant in patients with overlap with KD (13.4% vs. 6.8%, p = 0.007), while myocarditis was significantly more common in patients without overlap with KD features (2.6% vs 7.4%, p = 0.009). The association between clinical and laboratory findings and overlap with KD was investigated. Age > 12 years reduced the risk of overlap with KD by 66% (p < 0.001, 95% CI 0.217-0.550), lethargy increased the risk of overlap with KD by 2.6-fold (p = 0.011, 95% CI 1.244-5.439), and each unit more albumin (g/dl) reduced the risk of overlap with KD by 60% (p < 0.001, 95% CI 0.298-0.559). CONCLUSION: Almost half of the patients with MISC had clinical features that overlapped with KD; in particular, incomplete KD was present. The median age was lower in patients with KD-like features. Lymphocyte and platelet counts were lower, and ferritin and procalcitonin levels were significantly higher in patients with overlap with KD. WHAT IS KNOWN: ⢠In some cases of MIS-C, the clinical symptoms overlap with Kawasaki disease. ⢠Compared to Kawasaki disease, lymphopenia was an independent predictor of MIS-C. WHAT IS NEW: ⢠Half of the patients had clinical features that overlapped with Kawasaki disease. ⢠In patients whose clinical features overlapped with KD, procalcitonin levels were almost 15 times higher than normal. ⢠Lethargy increased the risk of overlap with KD by 2.6-fold in MIS-C patients. ⢠Transient bradycardia was noted in approximately 10% of our patients after initiation of treatment.
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COVID-19 , Síndrome de Linfonodos Mucocutâneos , COVID-19/complicações , COVID-19/diagnóstico , Criança , Pré-Escolar , Humanos , Letargia , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Pró-Calcitonina , Estudos Retrospectivos , SARS-CoV-2 , Síndrome de Resposta Inflamatória SistêmicaRESUMO
AIM: Multisystem inflammatory syndrome in children (MIS-C) may cause shock and even death in children. The aim of this study is to describe the clinical features, laboratory characteristics and outcome of children diagnosed with MIS-C in 25 different hospitals in Turkey. METHODS: The retrospective study was conducted between 8 April and 28 October 2020 in 25 different hospitals from 17 cities. Data were collected from patients' medical records using a standardised form. Clinical and laboratory characteristics and outcomes according to different age groups, gender and body mass index percentiles were compared using multivariate logistic regression analysis. RESULTS: The study comprised 101 patients, median age 7 years (interquartile range (IQR) 4.6-9.3); 51 (50.5%) were boys. Reverse-transcriptase polymerase chain reaction (PCR) assay was positive in 21/100 (21%) patients; 62/83 (74.6%) patients had positive serology for SARS-CoV-2. The predominant complaints were fever (100%), fatigue (n = 90, 89.1%), and gastrointestinal symptoms (n = 81, 80.2%). Serum C-reactive protein (in 101 patients, median 165 mg/L; range 112-228), erythrocyte sedimentation rate (73/84, median 53 mm/s; IQR 30-84) and procalcitonin levels (86/89, median 5 µg/L; IQR 0.58-20.2) were elevated. Thirty-eight patients (37.6%) required admission to intensive care. Kawasaki disease (KD) was diagnosed in 70 (69.3%) patients, 40 of whom had classical KD. Most patients were treated with intravenous immunoglobulin (n = 92, 91%) and glucocorticoids (n = 59, 58.4%). Seven patients (6.9%) died. CONCLUSION: The clinical spectrum of MIS-C is broad, but clinicians should consider MIS-C in the differential diagnosis when persistent fever, fatigue and gastrointestinal symptoms are prominent. Most patients diagnosed with MIS-C were previously healthy. Immunomodulatory treatment and supportive intensive care are important in the management of cases with MIS-C. Glucocorticoids and intravenous immunoglobulins are the most common immunomodulatory treatment options for MIS-C. Prompt diagnosis and prompt treatment are essential for optimal management.
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COVID-19 , Síndrome de Linfonodos Mucocutâneos , COVID-19/complicações , Criança , Fadiga , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Estudos Retrospectivos , SARS-CoV-2 , Síndrome de Resposta Inflamatória Sistêmica , Turquia/epidemiologiaRESUMO
The large outbreak of coronavirus disease 2019 (COVID-19) is spreading all over the world rapidly. There have recently been publications in the literature regarding the relationship between COVID-19 and Kawasaki disease, but there is no sufficient knowledge about the treatment and follow-up.
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Antivirais/uso terapêutico , Tratamento Farmacológico da COVID-19 , Hipóxia/terapia , Lopinavir/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Oxigenoterapia , Ritonavir/uso terapêutico , Ampicilina/uso terapêutico , Antibacterianos/uso terapêutico , Anticoagulantes/uso terapêutico , Azitromicina/uso terapêutico , COVID-19/complicações , COVID-19/diagnóstico por imagem , COVID-19/fisiopatologia , Teste de Ácido Nucleico para COVID-19 , Teste Sorológico para COVID-19 , Criança , Combinação de Medicamentos , Enoxaparina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Hipóxia/etiologia , Hipóxia/fisiopatologia , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Pulmão/diagnóstico por imagem , Masculino , Síndrome de Linfonodos Mucocutâneos/etiologia , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Oseltamivir/uso terapêutico , Sulbactam/uso terapêutico , Tomografia Computadorizada por Raios XRESUMO
This study aimed to investigate the relationship between skinfold thickness and serum leptin, ghrelin, adiponectin, and resistin levels in infants of diabetic mothers. Biochemical parameters were also similar for the two groups (infants of diabetic mothers and controls) (p > 0.05). We confirmed that there was a negative correlation between birth weight and serum ghrelin level (p < 0.05) in the two groups. When it was evaluated for control newborns, a positive correlation between abdominal circumference and serum resistin level was found in the controls (p < 0.05). Our results indicate that gestational diabetes by appropriate diet or insulin treatment may be effective in the protection of fetuses of diabetic mothers from the negative effects of gestational diabetes. Ghrelin alone was negatively correlated with birth weight. This negative correlation could be potentially advantageous to infants, because a reduction in appetite might prevent excessive food intake and postnatal weight gain.
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Adiponectina/sangue , Diabetes Gestacional/sangue , Grelina/sangue , Leptina/sangue , Resistina/sangue , Tecido Adiposo/metabolismo , Antropometria , Peso ao Nascer , Estudos de Casos e Controles , Comportamento Alimentar , Feminino , Idade Gestacional , Teste de Tolerância a Glucose , Hemoglobinas Glicadas/metabolismo , Humanos , Recém-Nascido , Masculino , Gravidez , Dobras Cutâneas , Aumento de PesoRESUMO
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.
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Cariótipo Anormal , Antropometria , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Fenótipo , Adulto JovemRESUMO
Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Materials and Methods: This was a multicenter survey study that was sent to pediatric endocrinologists in pandemic period (June 2021-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, and missed dose data and the causes in the recent year (after the onset of the pandemic) were queried. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% nonadherence). Results: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and "others" (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 mcg/kg, the annual growth rate was 1.15 SDS (min -2.74, max 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for nonadherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Nonadherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as nonadherence rate increased. Conclusion: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.
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PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
Assuntos
Hiperplasia Suprarrenal Congênita , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hiperplasia Suprarrenal Congênita/genética , Estudos de Coortes , Hipertensão/genética , Hipopotassemia/genética , Puberdade Tardia/genética , Esteroide 17-alfa-Hidroxilase/genética , Turquia/epidemiologiaRESUMO
OBJECTIVE: Compared to adult studies, there are few epidemiological and clinical reports on coronavirus disease 2019 in children. We aimed to present the demographic, epidemiological, and clinical findings of hospitalized pediatric coronavirus disease 2019 patients. MATERIALS AND METHODS: Patients aged 0-18 years who were hospitalized between March and July 2020 due to severe acute respiratory syndrome coronavirus 2 infection were evaluated retrospectively. RESULTS: The mean age was 90.2 ± 67.5 (7-24) months and 23 (51%) were female. Clinical presentation was asymptomatic in 15 cases (33.3%), mild/moderate in 26 cases (57.8%), and severe/critical in 4 cases (8.9%). Three (6.6%) of the patients had chronic medical conditions that placed them in the high-risk group for coronavirus disease 2019. The source of infection was household transmission in 29 cases (64.4%). The most common symptoms were cough, fever, and fatigue. Mean serum lactate, C-reactive protein (CRP), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) levels were significantly higher in severe/criti- cal patients compared to the other two groups (P < .05). severe acute respiratory syndrome coronavirus 2 negativity in control swabs (n=26) occurred at a mean of 10.6 ± 2.9 days after symptom onset. Forty-three patients (95.6%) were followed in the ward and 2 (4.4%) were admitted to the intensive care unit. CONCLUSION: Children aged 0-18 years constituted a very small proportion of coronavirus disease 2019 reverse transcription-polymerase chain reaction -positive cases. Asymptomatic carriage of SARS- CoV-2 by a large proportion of children seems to be a major factor driving community spread. Some children with coronavirus disease 2019 may also present neurological findings. coronavirus disease 2019 infection is more severe in patients with comorbidities, and support therapy is important in these patients.
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OBJECTIVES: Polycystic ovary syndrome (PCOS) is characterized by ovarian dysfunction, clinical and/or biochemical hyperandrogenism, and polycystic ovaries. Its pathogenesis is still unclear. This study aimed to investigate the relationship between kisspeptin, leptin, neuropeptide Y (NPY), and neurokinin B (NKB) levels for evaluating the pathogenesis of PCOS. METHODS: Levels of these parameters were analyzed in 20 patients with PCOS, and 16 healthy adolescents. RESULTS: Serum NPY levels were significantly higher in the obese and non-obese PCOS group (p<0.01). There was a negative correlation between the kisspeptin and the NKB levels (p<0.01) in the PCOS group but not in the control group. This negative correlation was also found in both PCOS groups (p<0.01). In the obese PCOS group, serum kisspeptin levels were significantly lower than the control and non-obese PCOS groups (p<0.05) although serum leptin and NPY levels were significantly higher in the obese PCOS group (p<0.01). CONCLUSIONS: The high NPY levels in both obese and non-obese patients with PCOS indicate that NPY plays a role in the pathogenesis independently from obesity. Significantly high leptin and low kisspeptin levels in the obese PCOS group suggested that they may be associated with obesity rather than PCOS.
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Síndrome do Ovário Policístico , Adolescente , Índice de Massa Corporal , Feminino , Humanos , Kisspeptinas , Leptina , Neurocinina B , Neuropeptídeo YRESUMO
CONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. OBJECTIVE: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. METHODS: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. RESULTS: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (Pâ <â .0001, area under the receiver operating characteristic curve: .96, .88, and .87, respectively). Plasma cortisol of less than 4 ng/mL, cortisone of less than 11 ng/mL, and corticosterone of less than 0.11 ng/mL had a greater than 95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology. CONCLUSION: Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES.
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Doença de Addison , Hiperplasia Suprarrenal Congênita , Cortisona , Doença de Addison/diagnóstico , Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Criança , Pré-Escolar , Corticosterona , Feminino , Humanos , Hidrocortisona , Masculino , Patologia Molecular , EsteroidesRESUMO
OBJECTIVE: The current study aimed to investigate the psychopathology behind gynecomastia and potential associated problems regarding self-esteem and body perception, and the relationships of these variables with sex steroid levels in adolescents with pubertal gynecomastia. METHODS: The study included 50 normal weight male adolescents aged between 11 and 18 years with gynecomastia but without any chronic organic pathology, and 50 healthy pubertal male adolescents matched for age. The adolescents underwent psychopathology assessment by Development and Well-Being Assessment interviews; self-esteem was assessed using the Rosenberg Self-Esteem Scale; body perception was evaluated using the Body Image Perception Scale, and the relationship between these variables and sex steroid levels were explored. RESULTS: The results of the study revealed that the gynecomastia group had significantly greater internalization disorder (X2 = 12.96, p < 0.001), and impairments in self-esteem (z = -1.975, p = 0.024) and body perception (z = -2.286, p = 0.022), and these variables were correlated with the gynecomastia stage. In the study group, cortisol levels were significantly higher (z = -2.330, p = 0.02) in adolescents with internalization disorder compared to those without, and cortisol levels increased in parallel with increased gynecomastia duration (r = 0.386, p = 0.006). CONCLUSION: In our study, we found that gynecomastia, depending on its stage, may lead to internalization disorder and impair self-esteem and body perception. It was found that there was no direct relationship between these parameters and sex steroids in pubertal gynecomastia, except for high cortisol levels in adolescents with internalization disorder.
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Several case reports have presented various neurological complications caused by lightning. However, there was no report related to cerebral salt wasting caused by lightning injury. We described a patient with lightning strike, who was subsequently diagnosed with cerebral salt wasting.
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Encéfalo/fisiopatologia , Lesões Provocadas por Raio/complicações , Lesões Provocadas por Raio/fisiopatologia , Criança , Feminino , Escala de Coma de Glasgow , Humanos , Hiponatremia/etiologia , Desequilíbrio Hidroeletrolítico/etiologiaRESUMO
Pneumatosis intestinalis, in association with portal venous gas, is a rare finding in children and young adults. In radiological studies, it is characterized by gas-filled cysts within the bowel-wall. It is often a sign of the serious significant underlying illness and is associated with a poor prognosis. A case of pneumatosis intestinalis and portal venous gas associated with abdominal tuberculosis in a child is presented here. Despite responding well to anti-tubercular treatment, he died suddenly at home, two months after discharge. It is recommended that cases with pneumatosis intestinalis should be carefully observed, although symptoms appear to be improving.
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Dor Abdominal/etiologia , Pneumatose Cistoide Intestinal/diagnóstico por imagem , Veia Porta/diagnóstico por imagem , Tuberculose Gastrointestinal/diagnóstico por imagem , Antituberculosos/uso terapêutico , Criança , Diagnóstico Diferencial , Evolução Fatal , Humanos , Masculino , Prognóstico , Radiografia , Tuberculose Gastrointestinal/tratamento farmacológico , TurquiaRESUMO
This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed.
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Doença de Hartnup/complicações , Doença de Hartnup/diagnóstico , Kwashiorkor/complicações , Acrodermatite/complicações , Aminoácidos Neutros/urina , Nádegas/patologia , Diagnóstico Diferencial , Evolução Fatal , Feminino , Doença de Hartnup/urina , Humanos , Indicã/urina , Lactente , Kwashiorkor/urina , Períneo/patologia , TurquiaRESUMO
Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ≥32 gestational weeks and ≥1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographyt-andem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ≥0.7 (increased from ≥0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.
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Hiperplasia Suprarrenal Congênita/diagnóstico , Triagem Neonatal , Hiperplasia Suprarrenal Congênita/epidemiologia , Diagnóstico Precoce , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Projetos Piloto , Avaliação de Programas e Projetos de Saúde , Estudos Retrospectivos , Turquia/epidemiologiaRESUMO
AIM: To investigate whether change in leptin content of breast milk during lactation acts on neonatal body weight gain. METHODS: In total 15 lactating women and their 15 term infants were involved in the study. Breast milk and neonatal serum samples were obtained from the same women and their neonates on the 1st day and any day between the 21st and 30th days after birth. Breast milk and serum leptin concentrations were determined by radioimmunoassay. Anthropometric indexes of the infants were recorded. RESULTS: The study was completed with 15 multiparious mothers aged 19-37 years and their infants. The mean collection time of the first samples after birth was 6.07 +/- 1.94 h. The leptin level in the mature milk was significantly higher than in the colostrum (p < 0.001). Neonatal weight and height were significantly increased on 21-30 lactation days compared to 1st day of lactation (p < 0.05 and p < 0.001, respectively). The leptin concentration in the mature milk was negatively correlated with delta BMI (r =-0.53; p < 0.05). The delta breast milk leptin concentration was also found to be inversely correlated with delta BMI (r =-0.529; p < 0.05). CONCLUSION: The results of this study have suggested that change in the leptin content of breast milk during lactation might play a role in the regulation of weight gain in healthy neonates.
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Aleitamento Materno , Colostro/metabolismo , Recém-Nascido/crescimento & desenvolvimento , Recém-Nascido/metabolismo , Leptina/metabolismo , Leite Humano/metabolismo , Adulto , Índice de Massa Corporal , Colostro/química , Feminino , Humanos , Leptina/sangue , Estudos Longitudinais , Masculino , Leite Humano/química , Aumento de Peso/fisiologia , Adulto JovemRESUMO
Bell's Palsy is the sudden onset of unilateral temporary paralysis of facial muscles resulting from seventh cranial nerve dysfunction. Presented here is a two-year old female patient with right peripheral facial palsy following hepatitis B vaccination. Readers' attention is drawn to an uncommon cause of Bell's Palsy, as a rare complication of hepatitis B vaccination.
Assuntos
Paralisia de Bell/etiologia , Vacinas contra Hepatite B/efeitos adversos , Hepatite B/prevenção & controle , Pré-Escolar , Feminino , HumanosRESUMO
Background It is known that iron deficiency anemia effects appetite and growth negatively. The aim of this study was to investigate the effect of iron therapy on appetite, growth and plasma ghrelin and leptin levels in children aged between 12 and 24 months with isolated nutritional iron deficiency anemia. Methods Iron deficiency anemia was diagnosed by clinic and laboratory findings. All 19 cases were given 5 mg/kg/day iron therapy for 3 months. Results The mean plasma ghrelin level was 936.7±428.8 pg/mL before therapy and it increased to 1284.7±533.3 pg/mL (p<0.001) while the mean plasma leptin level decreased from 3.4±1.6 ng/mL to 1.9±1.0 ng/mL (p<0.01) after therapy. The amount of daily caloric intake, carbohydrate and protein intake were significantly increased after therapy (p<0.001). Δ body weight was correlated with plasma ghrelin levels before and after therapy significantly. Conclusions In conclusion, the findings of this study indicate that plasma ghrelin level increases and leptin level decreases and growth accelerates because of an increase in appetite and daily calories, carbohydrate and protein amount in children with nutritional iron deficiency anemia after iron therapy. The increase in appetite and acceleration on growth in iron deficiency anemia might result from decreased leptin and increased plasma ghrelin levels. The most important finding of this study is significantly increased plasma ghrelin levels after iron therapy, and this finding might be related to both the improved appetite and catch-up growth.
Assuntos
Anemia Ferropriva/sangue , Anemia Ferropriva/tratamento farmacológico , Apetite/fisiologia , Grelina/sangue , Ferro/uso terapêutico , Leptina/sangue , Peso Corporal/efeitos dos fármacos , Feminino , Humanos , Lactente , Ferro/farmacologia , Masculino , Resultado do TratamentoRESUMO
Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level >150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61%) from 11 centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15±3.2 mg/dL, 5.2±1.2 mg/dL, 268±132 IU/L, 322 (236-454) ng/mL, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (rs=0.402, p<0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p<0.001). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered.