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1.
Artículo en Inglés | MEDLINE | ID: mdl-39377547

RESUMEN

Lowering of thyroid-stimulating hormone (TSH) cutoffs in newborn screening programs has created a management dilemma by leading to more frequent detection of neonates with elevated TSH concentrations due to false-positive results, transient neonatal hyperthyrotropinemia (NHT), and milder forms of congenital hypothyroidism. Current consensus guidelines recommend starting treatment if the venous TSH level is >20 mU/l in the face of a normal free thyroxin (FT4) level, which is an arbitrary threshold for treatment decisions. In countries such as Türkiye, where transient NHT may be more common due to iodine deficiency and/or overload, putting this recommendation into daily practice may lead to unnecessary and over treatments, long-term follow-ups, and increased workload and costs. In this review, we addressed alternative approaches for infants with elevated TSH concentrations detected at newborn screening. Our management approach can be summarized as follows: Infants with mild NHT (TSH<20 mU/l) should be followed without treatment. In moderate NHT (TSH 20-30 mU/l), treatment or monitoring decisions can be made according to age, TSH trend and absolute FT4 level. Moderate cases of NHT should be treated if age at confirmatory testing is >21 days or if there is no downward trend in TSH and FT4 level is in the lower half of age-specific reference range in the first 21 days. In in-between cases of moderate NHT, thyroid ultrasound can guide treatment decision by determining mild cases of thyroid dysgenesis that require life-long treatment. Otherwise, monitoring is a reasonable option. Infants with compensated hypothyroidism (TSH>30 mU/l) and persistent hyperthyrotropinemia (>6-10 mU/l after neonatal period) should receive L-thyroxine treatment. But all treated cases of isolated TSH elevation should be closely monitored to avoid overtreatment, and re-evaluated by a trial off therapy. This alternative approach will largely eliminate unnecessary treatment of infants with transient NHT, mostly caused by iodine deficiency or excess, and will reduce workload and costs by preventing unwarranted investigation and long-term follow-up.

2.
Neurosci Lett ; 837: 137902, 2024 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-39029612

RESUMEN

AIM: Tryptophan (TRP), an essential amino acid, undergoes catabolism through various pathways. Notably, the kynurenine pathway (KP), constituting one of these pathways, exhibits a unidirectional impact on immune response and energy metabolism. Nonetheless, its influence on pain sensation is characterized by biphasic dynamics. This study aims to scrutinize the influence of the KP pathway on pain sensation, particularly within the context of pancreatic inflammation. METHODS: Our prospective case-control study involved individuals diagnosed with acute pancreatitis and a control group matched for gender and age. The patient cohort was subsequently subdivided into severe and non-severe subgroups. To assess metabolites within KP, two blood samples were collected from the patient cohort, one at the time of diagnosis and another during the recovery phase. Furthermore, for pain quantification, daily pain scores utilizing the Visual Analog Scale (VAS) were extracted from the patients' medical records. RESULTS: The study incorporated 30 patients along with an equivalent number of controls. A noticeable distinction was evident between the patient and control groups, characterized by an increase in kynurenine levels and a decrease in the tryptophan/kynurenine ratio. Throughout the process of disease recovery, a uniform decrease was observed in all KP metabolites, excluding 3-Hydroxykynurenine. Elevated levels of Kynurenic acid (KYNA) were correlated with increased pain scores. Critically, no apparent distinctions in KP metabolites were discerned concerning pain severity in patients with comorbidities characterized by neural involvement. CONCLUSION: Based on our results, the kynurenine pathway (KP) is activated in instances of acute pancreatitis. Elevated levels of KYNA were found to be associated with heightened pain scores. The operative stages within the KP responsible for pain modulation are impaired in cases characterized by neuropathy-induced pain sensation.


Asunto(s)
Quinurenina , Percepción del Dolor , Pancreatitis , Triptófano , Humanos , Quinurenina/sangre , Quinurenina/metabolismo , Pancreatitis/sangre , Pancreatitis/metabolismo , Pancreatitis/complicaciones , Pancreatitis/fisiopatología , Masculino , Femenino , Persona de Mediana Edad , Estudios de Casos y Controles , Triptófano/sangre , Triptófano/metabolismo , Percepción del Dolor/fisiología , Adulto , Estudios Prospectivos , Anciano , Enfermedad Aguda
3.
Sci Rep ; 14(1): 10062, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38698116

RESUMEN

A de-embedding method for determining all scattering (S-) parameters (e.g., characterization) of a sensing area of planar microstrip sensors (two-port network or line) is proposed using measurements of S-parameters with no calibration. The method requires only (partially known) non-reflecting line and reflecting line standards to accomplish such a characterization. It utilizes uncalibrated S-parameter measurements of a reflecting line, direct and reversed configurations of a non-reflecting line, and direct and reversed configurations of the sensing area. As different from previous similar studies, it performs such a characterization without any sign ambiguity. The method is first validated by extracting the S-parameters of a bianisotropic metamaterial slab, as for a two-port network (line), constructed by split-ring-resonators (SRRs) from waveguide measurements. Then, it is applied for determining the S-parameters of a sensing area of a microstrip sensor involving double SRRs next to a microstrip line. The root-mean-square-error (RMSE) analysis was utilized to analyze the accuracy of our method in comparison with other techniques in the literature. It has been observed from such an analysis that our proposed de-embedding technique has the lowest RMSE values for the extracted S-parameters of the sensing area of the designed sensor in comparison with those of the compared other de-embedding techniques in the literature, and have similar RMSE values in reference to those of the thru-reflect-line calibration technique. For example, while RMSE values of real and imaginary parts of the forward reflection S-parameter of this sensing area are, respectively, around 0.0271 and 0.0279 for our de-embedding method, those of one of the compared de-embedding techniques approach as high as 0.0318 and 0.0324.

4.
Sci Rep ; 14(1): 8847, 2024 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-38632278

RESUMEN

A simple and inexpensive microwave measurement setup based on measurements of magnitudes of transmission properties ( | S 21 | dB ) is proposed for industrial-based microwave aquametry (moisture or water content) applications. An easy-to-apply calibration procedure based on normalization is implemented to eliminate systematic errors in the measurement system. As a case study, we applied this setup for the quantification of water-adulteration in flower honey. After validating this system by distilled water and pure flower honey measurements, | S 21 | dB measurements of the pure flower honey with various adulteration percentages ( δ ) up to 9% are conducted to examine the performance of the measurement setup for quantification of water adulteration. A multi-dimensional fitting procedure is implemented to predict δ using the proposed inexpensive microwave measurement setup. It is shown that it is possible to quantify an adulteration level with an accuracy better than ∓ 1 % by the proposed measurement setup and the applied multi-dimensional fitting procedure.

5.
J Clin Res Pediatr Endocrinol ; 16(3): 288-296, 2024 09 05.
Artículo en Inglés | MEDLINE | ID: mdl-38664994

RESUMEN

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management. Methods: Sixteen centers entered CPG patients into the ÇEDD NET data system. The clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features were evaluated. Results: Of the 152 evaluated patients, 64 (42.1%) were female. At presentation, the mean age was 9.1±3.67, ranging from 1.46 to 16.92, years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), and nausea and vomiting (7%). The surgical procedures were gross total resection (GTR) in 97 (63.8%) and subtotal resection in 55 (36.2%). Radiotherapy (RT) was initiated in 11.8% of the patients. Histopathological examination reported 92% were adamantinamatous type and 8% were papillary type. Postoperatively, hormone abnormalities consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated in 27 (17.8%). The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median (range) time of relapse was 1.82 (0.13-10.35) years. Relapse was related to longer followups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 (17.1%), neurological deficits in 13 (8.5%) and diabetes mellitus in 5 (3.3%) patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative RT. Challenges emerged for multidisciplinary regular follow ups. It is suggested that early interventions, such as dietary restrictions and increased exercise to prevent obesity, be implemented.


Asunto(s)
Craneofaringioma , Neoplasias Hipofisarias , Humanos , Craneofaringioma/terapia , Craneofaringioma/epidemiología , Femenino , Masculino , Niño , Adolescente , Preescolar , Neoplasias Hipofisarias/terapia , Neoplasias Hipofisarias/epidemiología , Lactante , Enfermedades del Sistema Endocrino/epidemiología , Enfermedades del Sistema Endocrino/terapia , Enfermedades del Sistema Endocrino/etiología , Estudios de Seguimiento , Resultado del Tratamiento
6.
J Pediatr Endocrinol Metab ; 37(5): 400-404, 2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38568210

RESUMEN

OBJECTIVES: The aim of our study was to investigate the changes in thyroid hormone levels during and after acute metabolic disorder in patients with diabetic ketoacidosis (DKA). METHODS: Eighty five patients diagnosed with DKA were included in the study. Patients with control thyroid function test (TFT) values at admission (the first blood sample) and 1 month later were included in the study. Thyroid function tests obtained during diabetic ketoacidosis and at the first month follow-up were compared. Euthyroidism and euthyroid sick syndrome were defined and grouped according to current guidelines. The mild and moderate groups, according to DKA classification, were combined and compared with the severe group. RESULTS: A significant increase was observed between the first admission and the control TFT values 1 month later. However, there was no significant difference found in TFT between mild/moderate and severe groups taken at the time of DKA. Difference between two groups, euthyroid sick syndrome and euthyroid, was examined and the result that was different from the literature was the difference between TSH levels. We found that low FT4 levels were associated with higher HgbA1c, although the correlation was weak. CONCLUSIONS: Thyroid hormone levels may not reflect a thyroid disease during severe DKA attack. Therefore, it is unnecessary to check thyroid function tests.


Asunto(s)
Cetoacidosis Diabética , Pruebas de Función de la Tiroides , Humanos , Cetoacidosis Diabética/sangre , Cetoacidosis Diabética/diagnóstico , Masculino , Femenino , Niño , Adolescente , Estudios de Seguimiento , Hormonas Tiroideas/sangre , Síndromes del Eutiroideo Enfermo/sangre , Síndromes del Eutiroideo Enfermo/diagnóstico , Preescolar , Pronóstico , Glándula Tiroides/fisiopatología , Biomarcadores/sangre
7.
Indian J Clin Biochem ; 39(1): 130-135, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38223003

RESUMEN

In this study, it was aimed to assess effects of subclinical hyperthyroidism (SH) on bone metabolism using osteoprotegerin (OPG), sclerostin, Dickkopf-1 (DKK1) and biochemical parameters. This cross-sectional prospective study included 40 patients with SH and 40 euthyroid controls. Serum OPG, sclerostin, DKK-1, type-1 procollagen, C-terminal polypeptide (CTx) and 24-hours urine N-terminal telopeptide (NTx) were measures using ELISA kit. Bone mineral density measurements were performed using dual energy X-ray absorptiometry (DEXA). Risk for 10-years hip and major fracture was estimated by Turkish version of FRAX. No significant difference was detected in age, gender, body mass index, smoking and menopause rates between SH and control groups. The risk for 10-years hip fracture and major osteoporotic fracture were estimated as 4.45% and 0.55% in SH group, respectively. The OPG levels were significantly lower in patients with SH than controls (P = 0.017). No significant difference was detected in other bone formation and degradation parameters. No significant correlation was detected between OPG level and risk for major osteoporotic fracture (P > 0.05); however, a negative correlation was detected between OPG level and risk for hip fracture (rho = 0.233; P = 0.038). Serum OPG is markedly affected in patients with SH. In addition, OPG seemed to be associated with osteoporotic fracture risk. Available data show that SH is significantly associated with risk for fracture; thus, it is important to assess risk for fracture in patients with SH.

8.
Artículo en Inglés | MEDLINE | ID: mdl-38199488

RESUMEN

BACKGROUND/AIM: Limited studies have delved into the association between thyroid hormones and neurocognition in schizophrenia. We aimed to evaluate the relationship between thyroid hormone levels and neurocognitive functions in patients with schizophrenia and other psychosis spectrum disorders (SSD). METHOD: A total of 135 patients with early-onset SSD were included in the study. The participants underwent a cognitive assessment. Blood samples were collected to measure serum levels of thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3). Subgroup analyses were conducted based on the severity of the psychosis. FINDINGS: The results revealed a significant association between fT4 levels and various cognitive domains, including processing speed, verbal fluency, working memory, verbal learning, verbal memory, and visual memory. However, serum TSH and fT3 levels exhibited no significant association with neurocognitive impairment in adjusted linear regression models. Specifically, the correlation between fT4 levels and global cognition was more pronounced in patients with higher scores. CONCLUSIONS: Serum fT4 levels were associated with the performance across various cognitive domains in cases of early-onset psychotic disorders. This correlation was accentuated among patients with higher illness severity. Future studies could focus on the effects of specific pathways that can affect the course and progression of psychosis.


Asunto(s)
Trastornos Psicóticos , Esquizofrenia , Humanos , Tiroxina , Esquizofrenia/complicaciones , Hormonas Tiroideas , Triyodotironina , Trastornos Psicóticos/complicaciones , Tirotropina
10.
Arch. endocrinol. metab. (Online) ; 68: e220254, 2024. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1520079

RESUMEN

ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.

11.
Arch Endocrinol Metab ; 68: e220254, 2023 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-37948564

RESUMEN

Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.


Asunto(s)
Hipopituitarismo , Femenino , Humanos , Masculino , Alelos , Hipopituitarismo/diagnóstico , Hipopituitarismo/genética , Mutación , Proteínas Nucleares/genética , Factor de Transcripción Pit-1/genética , Factores de Transcripción/genética , Proteína Gli2 con Dedos de Zinc/genética
12.
Horm Res Paediatr ; 2023 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-37793366

RESUMEN

INTRODUCTION: Increasingly, research groups have been studying the association of serum vitamin D and metabolic health indicators, especially in patients with obesity. We compared the serum 25-hydroxy Vitamin D [25(OH)D] concentrations in children and adolescents who had obesity and hepatosteatosis with children and adolescents who had obesity without hepatosteatosis, and investigate the relationship between serum 25(OH)D concentrations and severity of hepatosteatosis. We also aimed to assess the effect of vitamin D treatment after 6 months on hepatosteatosis and liver biochemistry. METHODS: One hundred thirty-three patients with obesity (body mass index (BMI) > +2 standard deviations (SD) for their age and gender) and vitamin D deficiency [serum 25(OH)D < 12 ng/ml] were recruited. Anthropometric measurements, biochemical parameters [serum calcium, phosphate, alkaline phosphatase, parathyroid hormone, 25(OH)D, glucose and insulin concentrations] and ultrasonographic findings of hepatosteatosis were recorded before and six months after Vitamin D treatment. Chi-square, Student's t tests and multivariate analysis were performed. RESULTS: Grade 1, 2 and 3 hepatosteatosis at baseline was present in 51 (38.4%) , 43 (32.3%) and 10 (7.5%) subjects respectively. Mean (± SD) serum 25(OH)D concentrations were significantly lower in those with hepatosteatosis (8.4 ± 2.4 ng/ml) compared with those without hepatosteatosis (9.9 ± 2.4 ng/ml, P < 0.005). Multivariable logistic regression analysis showed serum 25(OH)D concentration was the independent predictor for hepatosteatosis (P < 0.005), whereas age, sex, weight SD, BMI SD and HOMA-IR were not (P > 0.05). There was no significant difference in BMI SD, HOMA-IR and liver enzymes between subjects with and without hepatosteatosis (P > 0.05). Despite improvement in serum 25(OH)D concentrations at 6 months post-treatment (34.7 ± 10.6 ng/ml vs. 8.7 ± 2.4 ng/ml; p < 0.0001), there was no significant difference in the proportion of patients with different severity of hepatosteatosis as compared to before treatment (p = 0.88). CONCLUSION: Serum 25(OH)D concentrations were lower in children and adolescents with obesity and hepatic steatosis as compared to those without hepatic steatosis, with an inverse association between the severity of hepatosteatosis and serum 25(OH)D concentrations. Vitamin D treatment in children and adolescents with obesity and hypovitaminosis D did not improve severity of hepatic steatosis on ultrasonography at 6 months.

13.
Ann Pediatr Endocrinol Metab ; 28(3): 159-167, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37798892

RESUMEN

Hypoparathyroidism is characterized by insufficient parathyroid hormone (PTH) release from the parathyroid glands to maintain serum calcium level within normal limits and unresponsiveness of target tissues despite normal serum PTH level. Hypoparathyroidism is defined as low or inappropriately normal serum PTH level. In this narrative review, we discuss the etiology of hypoparathyroidism in children.

14.
J Pediatr Endocrinol Metab ; 36(10): 925-929, 2023 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-37658767

RESUMEN

OBJECTIVES: We aimed to assess the efficacy of oral use of oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) in children with central diabetes insipidus (CDI). METHODS: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were evaluated. RESULTS: Fourteen boys and eleven girls with a mean age of 52.37 months were evaluated. These children (mean weight and height at admission, 26.81 ± 14.8 kg vs. 92.52 ± 30 cm) presented with failure to thrive, irritability, prolonged fever, polyuria and hypernatremia (mean sodium level, 143.12 ± 8.6 mEq/L). At the time of hypernatremia, mean serum and urine osmolality were 298.2 ± 18 mOsm/kg and 160.20 ± 8.7 mOsm/kg, respectively. ADH levels were undetectable (<0.5 pmol/L) at admission in all cases. Oral administration of desmopressin lyophilisate (120 µg/tablet) was initiated at a dose of 5 µg/kg/day in two divided doses together with controlled water intake to avoid hyponatremia. Serum sodium levels normalised in a mean duration of 15.2 ± 16.4 h with a mean decline rate of 0.12 ± 0.04 mEq/L/h. Nine children needed rehospitalization because of hypernatremia due to non-compliance. Four episode of hyponatremia was observed. Weight gain and growth were normal during the mean follow-up duration of 37.79 ± 48.2 months. CONCLUSIONS: Administration of OLD was practical and safe in the treatment of CDI in children with CNS malformations in this small retrospective series.

15.
J Clin Res Pediatr Endocrinol ; 15(4): 390-396, 2023 11 22.
Artículo en Inglés | MEDLINE | ID: mdl-37470245

RESUMEN

Objective: The aim of this study was to compare the development of early diabetic retinopathy (DR) findings, a microvascular complication, between patients with isolated type 1 diabetes mellitus (T1DM) (Group 1), concurrent T1DM and autoimmune thyroiditis (AT) (Group 2), and healthy controls (Group 3), who were matched for age, sex, number, and body mass index for comparison. Methods: This was a prospective observational study that included individuals aged 10-20 years, and patients in Groups 1 and 2 had been followed up for ≥5 years. None of them developed clinical DR during the follow-up period. Optical coherence tomography angiography (OCTA) was used to evaluate the foveal avascular zone (FAZ) and parafoveal vascular density (PVD) for the development of early DR. OCTA findings were compared between patients and healthy controls. Results: Thirty-five individuals were included in each of the groups. The mean FAZ and PVD differed significantly between the three groups (FAZ, p=0.016; PVD, p=0.006). The mean FAZ was higher in Groups 1 and 2 than in Group 3 (p=0.013 and p=0.119, respectively). The mean PVD was lower in Groups 1 and 2 than in Group 3 (p=0.007, respectively). No significant difference was found between Groups 1 and 2 in terms of the mean FAZ and PVD (p=0.832 and p=0.653, respectively). The mean glycated hemoglobin (HbA1c) level was significantly correlated with FAZ and PVD (FAZ: r=0.496, p<0.001; PVD: r=-0.36, p=0.001). Conclusion: In patients with T1DM who did not develop clinical DR, OCTA findings revealed an increase in FAZ, which was associated with higher HbA1c levels. The mean PVD was significantly lower in the group with coexisting AT and T1DM than in the control group. These results suggest that the coexistence of AT and T1DM can contribute to the development of microvascular complications. However, studies with larger patient series are required.


Asunto(s)
Diabetes Mellitus Tipo 1 , Retinopatía Diabética , Enfermedad de Hashimoto , Tiroiditis Autoinmune , Niño , Humanos , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Retinopatía Diabética/etiología , Retinopatía Diabética/complicaciones , Hemoglobina Glucada , Enfermedad de Hashimoto/complicaciones , Tiroiditis Autoinmune/complicaciones , Tiroiditis Autoinmune/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Masculino , Femenino , Adolescente , Adulto Joven
16.
Paediatr Drugs ; 25(5): 595-601, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37326929

RESUMEN

BACKGROUND: Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited. OBJECTIVE: We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI. Time to serum sodium normalisation was compared with that of children with normal intellect and CDI treated with sublingual DDAVP. METHODS: Clinical, laboratory and neuroimaging characteristics were evaluated for 12 disabled children with CDI treated with ODL through nasogastric tube at Dr Behcet Uz Children's Hospital, Turkey, between 2012 and 2022. RESULTS: Six boys and six girls with a mean (±SD) age of 43 (± 40) months were evaluated. These children (mean [±SD] weight standard deviation score [SDS] - 1.2 ± 1.7; mean [±SD] height SDS - 1.3 ± 1.4) presented with failure to thrive, irritability, prolonged fever, polyuria and hypernatraemia (mean serum sodium 162 [±3.6] mEq/L). At diagnosis, mean serum and urine osmolality were 321 (± 14) mOsm/kg and 105 (± 7.8) mOsm/kg, respectively. Arginine vasopressin (AVP) levels were undetectable (< 0.5 pmol/L) at diagnosis in all patients. Nasogastric tube administration of DDAVP lyophilisate (120 µg/tablet) dissolved in water (10 mL) was commenced at a dose of 1-5 µg/kg/day in two divided doses together with controlled water intake to avoid hyponatraemia. The frequency and dose of DDAVP were titrated based on urine output and serum sodium concentration. Serum sodium declined at a rate of 0.11 ± 0.03 mEq/L/h and reached normal range in a mean duration of 174 ± 46.5 h. Serum sodium declined faster in children with normal intellect and CDI treated with sublingual DDAVP (1.28 ± 0.39 mEq/L/h; p = 0.0003). Three disabled children needed rehospitalisation because of hypernatraemia due to unintentional DDAVP omission by caregivers. No episode of hyponatraemia was observed. Weight gain and growth were normal during the median (± interquartile range) follow-up duration of 32 ± 67 months. CONCLUSIONS: Nasogastric administration of oral DDAVP lyophilised formulation was safe and effective in the treatment of CDI in disabled children in this small retrospective series.


Asunto(s)
Diabetes Insípida Neurogénica , Diabetes Mellitus , Niños con Discapacidad , Hipernatremia , Hiponatremia , Masculino , Niño , Femenino , Humanos , Preescolar , Diabetes Insípida Neurogénica/tratamiento farmacológico , Diabetes Insípida Neurogénica/etiología , Desamino Arginina Vasopresina/efectos adversos , Estudios Retrospectivos , Hipernatremia/tratamiento farmacológico , Hiponatremia/tratamiento farmacológico , Hiponatremia/etiología , Sodio/uso terapéutico , Diabetes Mellitus/tratamiento farmacológico
18.
J Pediatr Endocrinol Metab ; 36(4): 335-341, 2023 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-36843296

RESUMEN

Rickets is the disease of a growing skeleton and results from impaired apoptosis of hypertrophic chondrocytes and mineralization of the growth plate. Nutritionally induced rickets, secondary to vitamin D and/or calcium deficiency, remains a major global problem. In this review, we discuss pathogenesis, clinical signs, investigation and management of nutritional rickets.


Asunto(s)
Desnutrición , Raquitismo , Deficiencia de Vitamina D , Humanos , Raquitismo/diagnóstico , Raquitismo/etiología , Raquitismo/terapia , Vitamina D/uso terapéutico , Vitaminas , Deficiencia de Vitamina D/complicaciones , Calcio
20.
J Pediatr Endocrinol Metab ; 35(5): 557-565, 2022 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-35393850

RESUMEN

Obesity is an epidemic disease that can increase the incidence of type 2 diabetes, cardiovascular disease, malignancy, hypertension, and other health problems that affect the musculoskeletal system. There is a complex interaction between obesity and bone metabolism. In children with obesity, the peroxisome proliferator-activated receptor gamma pathway causes the differentiation of mesenchymal stem cells into adipocytes via osteoblasts, in which results in low bone mass and osteoporosis. Systemic inflammation in obesity has negative effects on bone metabolism. An increase in the number and size of adipose tissue and adipocytokines secreted from adipocytes affect the bone mass of the whole body with hormonal and biochemical effects. The skeletal effects of obesity are mediated by higher oxidative stress and increased production of proinflammatory cytokines. Osteoporosis due to obesity has increased morbidity and mortality in recent years, resulting in important health problems in developed and developing countries.


Asunto(s)
Diabetes Mellitus Tipo 2 , Osteoporosis , Adipocitos/metabolismo , Tejido Adiposo/metabolismo , Niño , Diabetes Mellitus Tipo 2/metabolismo , Humanos , Obesidad/metabolismo , Osteoporosis/etiología , Osteoporosis/metabolismo
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