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1.
Artículo en Inglés | MEDLINE | ID: mdl-38796770

RESUMEN

BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December 2022 were examined. RESULTS: Patients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first-tier 17-hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05-0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non-CAH PAI was established. CONCLUSION: Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.

2.
Breastfeed Med ; 19(2): 91-97, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38386990

RESUMEN

Objective: To determine the effect of oral motor stimulation (OMS) applied to preterm infants on their sucking and swallowing abilities to establish a successful and safe oral feeding experience. Methods: A pre-post intervention study was conducted between December 2019 and December 2020, which included preterm infants born at <35 weeks of gestational age and admitted to the neonatal intensive care unit. Patients with major congenital abnormalities (including cardiac, facial, and jaw deformities), severe NEC, stage 3-4 IVH were excluded from the study. Patients who received OMS by a speech and language therapist between June 2020 and December 2020 were assigned to Group 1, while patients who received no intervention between December 2019 and May 2020 were assigned to Group 2. The time to achieve full oral feeding (FOF), acquisition of breastfeeding rates at discharge, and the length of hospital stay (LOS) were compared between the groups. Results: A total of 62 patients were included in the study (31 in Group 1 and 31 in Group 2). There were no significant differences in birth weight and demographic data between the groups. The mean time to achieve FOF was found to be significantly shorter in Group 1 (31 ± 23.6 and 46.7 ± 22.3 days, respectively, p = 0.013). The mean LOS was also found to be shortened with a mean duration of 10 days in Group 1, without statistical significance (56.4 ± 35.3 days versus 66.0 ± 42.9 days, respectively, p = 0.34). Acquisition of breastfeeding rates was significantly higher in the intervention group (p < 0.05) Conclusions: OMS accelerates the transition to FOF in preterm infants and increases the rates of acquiring breastfeeding skills at discharge.


Asunto(s)
Lactancia Materna , Recien Nacido Prematuro , Lactante , Femenino , Recién Nacido , Humanos , Recien Nacido Prematuro/fisiología , Tiempo de Internación , Edad Gestacional , Peso al Nacer , Unidades de Cuidado Intensivo Neonatal
3.
Sisli Etfal Hastan Tip Bul ; 57(2): 189-194, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37899803

RESUMEN

Objectives: Oral feeding in preterm infants is a complex and dynamic process involving oral motor development and interaction between the neurological, cardiorespiratory, and gastrointestinal systems. Oral motor stimulation (OMS) is defined as stimulating the oropharyngeal components such as the lips, jaw, tongue, and soft palate with fingers in preterm infants to increase their feeding skills. In this study, we aimed to evaluate the effect of OMS exercises on the sucking and swallowing skills of preterm infants and demonstrate the utility of objective scales to evaluate infants' readiness for oral feeding. Methods: This single-center, prospective cohort study was conducted between June 1st and December 31st, 2020, which included preterm infants born at ≤34 weeks of gestation and admitted to the neonatal intensive care unit of our hospital. All procedures of the OMS program were performed once a day, 5 times a week by a language and speech therapist who is an expert in oral feeding skills (OFS) staging and non-nutritive sucking (NNS) scoring. All infants were followed up until discharge with a weekly evaluation of OFS staging and NNS scoring. Results: A total of 50 infants were included in this prospective cohort study. The mean birth weight was 1376.9±372 g, and the median gestational age was 30 weeks (interquartile range: 25-34). The comparison of OFS stages on day 5 and day 10 of OMS revealed a significant increase (p<0.001). Similarly, there was a significant improvement in the NNS scores on days 5 and 10 compared to the baseline. Conclusion: In preterm infants, OMS during the transition from gavage feeding to oral feeding improves feeding skills.

4.
Am J Perinatol ; 2023 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-37751851

RESUMEN

OBJECTIVE: Point-of-care ultrasound (POCUS) has been reported to reduce radiation exposure and has been shown to be a reliable bedside technique to confirm endotracheal tube (ETT) placement, but evidence in neonates is still limited. The aim of this study was to compare the effectiveness and reliability of POCUS performed by a neonatologist, as an alternative to chest radiography (CXR) for the optimal position of ETT. STUDY DESIGN: Newborns who underwent intubation were included in this prospective observational study. The CXR was used to evaluate the position of the ETT tip and categorized into three groups: above the T1, between the T1 and T3, and below the T3 vertebra. An experienced neonatologist measured the distance between the ETT tip and the upper border of the aortic arch from the suprasternal notch with ultrasonography (US). A 5 to 10 mm measurement was considered as the optimal distance, and the position was classified into three categories: correct, high, and deep. RESULTS: Among 91 measurements performed on 63 intubated patients with US, 73 (80%) were within the 5 to 10 mm range (correct position). Of these, 61 (92.4%) were determined to be between T1 and 3 vertebrae in CXR. There was no significant difference between the two methods, and the US had an excellent ability to distinguish the correct position of the ETT. The distance measured by the US for the ETT tip to be located between the T1 and T3 vertebrae on CXR should range between 6.17 and 9.0 mm. CONCLUSION: This study showed that the US by an experienced neonatologist is an easy and feasible alternative to determine the position of the ETT in the neonatal intensive care unit. KEY POINTS: · POCUS has been reported to reduce radiation exposure, and it is areliable bedside technique.. · Evidence for confirmation of ETT placement in neonates is limited.. · POCUS can be used for determination of ETT position in NICU's by experienced neonatologists..

5.
Neonatology ; 120(6): 736-740, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37634488

RESUMEN

INTRODUCTION: Chest X-ray (CXR) is the most prevalent method for evaluating lung expansion in high-frequency oscillatory ventilation (HFOV). The purpose of this study was to compare the accuracy of chest radiography with point-of-care ultrasound (POCUS) in determining lung expansion. METHODS: This prospective study included newborns who required HFOV and were monitored in a neonatal intensive care unit. A single neonatologist assessed lung expansion with CXR and POCUS to measure the costal level of the right hemidiaphragm and compared the results. RESULTS: A neonatologist performed 55 measurements in 28 newborns with a gestational age of 32 (23.2-39.4) weeks, followed by HFOV. The rib counts obtained from anterior chest ultrasonography and posterior CXR showed a statistically high concordance (r = 0.913, p < 0.001). CONCLUSION: Lung ultrasonography is a reliable method for the evaluation of lung expansion based on rib count in patients with HFOV.


Asunto(s)
Ventilación de Alta Frecuencia , Síndrome de Dificultad Respiratoria del Recién Nacido , Recién Nacido , Humanos , Lactante , Estudios Prospectivos , Sistemas de Atención de Punto , Rayos X , Ultrasonografía , Radiografía , Pulmón/diagnóstico por imagen , Costillas/diagnóstico por imagen
6.
J Matern Fetal Neonatal Med ; 36(1): 2222205, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37303207

RESUMEN

OBJECTIVE: To evaluate whether warm povidone-iodine (PI) application before peripherally inserted central catheter (PICC) placement eased pain related to the procedure in premature infants and reduced the duration of the procedure and the number of attempts. METHODS: A prospective randomized controlled trial was conducted with infants born before 32 weeks of gestation who required the first placement of the PICC. Skin disinfection was performed with warm PI before the procedure in the warm PI(W-PI) group, whereas PI kept at room temperature was used in the regular PI(R-PI) group. NPASS scores of the infants were evaluated three times: at baseline(T0), during skin preparation(T1), and during needle insertion(T2). RESULTS: Fifty-two infants (26 in the W-PI group,26 in the R-PI group) were enrolled in the study. The perinatal and baseline demographic characteristics did not significantly differ between the two groups. While the median NPASS scores at T0 and T2 were similar between the groups, the median T1 score was significantly higher in the R-PI group(p = .019). While the median NPASS scores at T1 and T2 were similar in the R-PI group, there was a significant difference in the W-PI group, with NPASS scores being significantly lower at T1 compared to T2. The results demonstrate that skin disinfection was just as painful as needle insertion in the R-PI group. The duration of the procedure and the number of needle insertions were significantly lower in the W-PI group. CONCLUSIONS: Before invasive interventions, such as PICC insertion, we recommend warm PI as a part of non-pharmacological pain management.


Asunto(s)
Cateterismo Periférico , Recien Nacido Prematuro , Manejo del Dolor , Dolor , Femenino , Humanos , Recién Nacido , Dolor/etiología , Dolor/prevención & control , Manejo del Dolor/métodos , Estudios Prospectivos , Cateterismo Periférico/efectos adversos , Povidona Yodada/uso terapéutico , Calor , Resultado del Tratamiento , Masculino
7.
Artículo en Inglés | MEDLINE | ID: mdl-36815512

RESUMEN

Congenital nephrogenic diabetes insipidus (NDI) is a rare cause of hypernatremia in newborns. Central diabetes insipidus (CDI) is the main differential diagnosis of NDI. NDI responds poorly to desmopressin acetate (DDAVP) treatment while this is the mainstay of CDI management. Therefore, an early and correct diagnosis of NDI is crucial to avoid the complications of inappropriate therapy. Here, we report a newborn with hypernatremia and hypotonic polyuria. The patient was initially responsive but subsequently unresponsive to intranasal DDAVP treatment in regard to urine output and serum sodium levels. A novel hemizygous missense mutation (c.632T>C, p.L211P) in the AVPR2 gene was found both in the baby and his mother, and the diagnosis of congenital NDI was established. After hydrochlorothiazide treatment and hypo-osmolar formula were given, urine volume was decreased, and serum sodium levels were normalized. Early recognition and appropriate management of NDI can prevent complications of hypernatremic dehydration in young infants.

8.
J Matern Fetal Neonatal Med ; 35(4): 677-684, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32102581

RESUMEN

OBJECTIVE: To evaluate the impact of preterm birth on bone health in preschool children. METHODS: A total of 166 preschool children (aged 7-8 years) born preterm (n = 86, <37-week gestation) and at term (n = 80, ≥37 weeks of gestation) in our hospital were included in this prospective cross-sectional study. Data on antenatal, perinatal, and early postnatal characteristics and maternal obstetric history were obtained from medical records. Bone densitometry data including total bone mineral content (BMC), bone mineral density (BMD; total, lumbar, and femoral), z-scores, and bone loss were collected for each participant. RESULTS: Current height, weight, and BMI values were significantly lower in the preterm group (p < .001). Serum calcium, phosphorus and alkaline phosphatase (ALP) levels did not differ among groups, whereas VitD3 levels were significantly higher in the preterm group (p = .039). The mean total BMC, total BMD, lumbar (L2-L4) BMD, femur BMD, total z-score, and L2-L4 z-score values were significantly lower for the preterm group, whereas the total, lumbar, and femoral bone loss were significantly higher (p < .001), regardless of the severity of prematurity. Intraventricular hemorrhage (IVH) and retinopathy were significantly associated with lower total BMC (p = .004, p = .012, respectively). Fortified breastfeeding was associated with lumbar bone loss (p = .043), and formula feeding was associated with both femur and lumbar bone loss (p = .006, p = .012, respectively). CONCLUSIONS: Our findings revealed long-term adverse effects of preterm birth on bone health, with significantly lower anthropometric values (weight, height, and BMI), lower scores for total BMC, BMD (total, lumbar, femoral), and z-scores (total, femur), along with higher bone loss (total, lumbar, femoral) and higher rates of osteopenia and osteoporosis in preschool children born preterm (whether moderate or very preterm) compared with those born at term. Exclusive breastfeeding appears to reduce the likelihood of long-term bone loss in preterm infants.


Asunto(s)
Densidad Ósea , Nacimiento Prematuro , Absorciometría de Fotón , Preescolar , Estudios Transversales , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Morbilidad , Embarazo , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Estudios Prospectivos , Turquía/epidemiología
9.
Pediatr Res ; 92(1): 265-274, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34556810

RESUMEN

BACKGROUND: Interpretation of the results of steroid hormone measurements is challenging at early infancy. The liquid chromatography-tandem mass spectrometry (LC-MS/MS) method provides a powerful tool for diagnosing steroidogenesis disorders. We aimed to develop normative data for a 14-steroid panel and four adrenal enzyme activity indices, determined by LC-MS/MS from 3 days to 6 months of age. METHODS: Age- and sex-specific plasma steroid concentrations were calculated in 324 healthy full-term neonates and infants (151 females). Percentile curves were devised. Steroid ratios were evaluated as biomarkers of adrenal enzyme activities. The steroid profiles of four patients with adrenal enzyme deficiencies were included to test the diagnostic efficiency. RESULTS: Nine steroids showed age, but none showed sex specificity. The concentrations of progestins and androgens were higher at 7-14 days than at 3-7 days. After the first month, adrenal androgen concentrations decreased significantly. Adrenal enzyme activities changed towards increasing cortisol over the first 6 months. There were several-fold differences in diagnostic steroids and related adrenal enzyme activity indices between the patients and the healthy group. CONCLUSIONS: The majority of adrenal steroids show age-related variations in the neonatal period and early infancy. Our data will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis. IMPACT: LC-MS/MS method is capable of quantitating numerous analytes simultaneously, which provides an integrated picture of adrenal steroidogenesis in a small amount of sample. The development of LC-MS/MS-based normative data of steroid hormones in healthy infants is crucial to differentiate physiologic alterations from steroidogenic defects during the first 3-6 months of infancy. Previous studies had limitations due to the small numbers of samples available by sex and by age groups. Our detailed normative data and percentile curves will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis without the need for further invasive testing.


Asunto(s)
Esteroides , Espectrometría de Masas en Tándem , Andrógenos , Cromatografía Liquida/métodos , Femenino , Hormonas Esteroides Gonadales , Humanos , Lactante , Recién Nacido , Masculino , Valores de Referencia , Espectrometría de Masas en Tándem/métodos
10.
J Clin Res Pediatr Endocrinol ; 13(4): 384-390, 2021 11 25.
Artículo en Inglés | MEDLINE | ID: mdl-34013710

RESUMEN

Objective: Late neonatal hypocalcemia (LNH) is a common metabolic problem associated with hypoparathyroidism, high phosphate intake and vitamin D deficiency, often presenting with seizures. In this cross-sectional study, we aimed to evaluate the role of vitamin D deficiency in LNH in Turkey and to describe the characteristics of affected newborns. Methods: Conducted with a cross-sectional design and with the participation of 61 neonatal centers from December 2015 to December 2016, the study included term neonates with LNH (n=96) and their mothers (n=93). Data were registered on the FAVOR Web Registry System. Serum samples of newborns and mothers were analyzed for calcium, phosphate, magnesium, albumin, alkaline phosphatase, intact parathyroid hormone (iPTH) and 25 hydroxyvitamin D [25(OH)D] levels. Results: The median (range) onset time of hypocalcemia was 5.0 (4.0-8.0) days of age, with a male preponderance (60.4%). The median (range) serum 25(OH)D levels of the neonates and their mothers were 6.3 (4.1-9.05) and 5.2 (4.7-8.8) ng/mL, respectively. The prevalence of vitamin D deficiency (<12 ng/mL) was high in both the neonates (86.5%) and mothers (93%). Serum 25(OH)D levels of the infants and mothers showed a strong correlation (p<0.001). While the majority (93.7%) of the neonates had normal/high phosphorus levels, iPTH levels were low or inappropriately normal in 54.2% of the patients. Conclusion: Vitamin D deficiency prevalence was found to be high in LNH. Efforts to provide vitamin D supplementation during pregnancy should be encouraged. Evaluation of vitamin D status should be included in the workup of LNH.


Asunto(s)
Hipocalcemia/epidemiología , Enfermedades del Recién Nacido/epidemiología , Deficiencia de Vitamina D/epidemiología , Estudios Transversales , Femenino , Humanos , Recién Nacido , Masculino , Prevalencia , Turquía/epidemiología
11.
J Matern Fetal Neonatal Med ; 31(24): 3225-3231, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-28856971

RESUMEN

AIMS: This study compared the early-term outcomes of mechanical ventilation (MV)/surfactant treatment with nasal-continuous positive airway pressure (nCPAP) in preterm infants with respiratory distress syndrome (RDS). MATERIALS AND METHODS: Data from newborns born between ≥24 and ≤32 weeks of gestation, hospitalized at our newborn intensive care unit, and diagnosed with RDS between January 2009 and February 2012 were analyzed. RESULTS: Of 193 newborns with RDS who were enrolled in the study, 113 were treated with nCPAP and 80 with MV at a level of 57.5% of nCPAP. Within the study group, 46.3% of the infants were female. The mean gestation of the continuous positive airway pressure (CPAP) group was 29.07 ± 1.99 weeks; that of the MV group was 28.61 ± 2.01 weeks. The birth weight was 1321.1 ± 325.4 g and 1240.3 ± 366.1 g; however, the difference between the two groups was not significant. MV was not required in 54.9% of the patients with nCPAP treatment. Bronchopulmonary dysplasia (BPD) developed in 20 (18.7%) patients in the nCPAP group and 18 (24.4%) patients in the MV group; the difference was not significant (p = .351). Between 2009 and 2012, nCPAP was used at a rate of 33.9, 70.8, 68.4, and 69%. The risk factors for developing BPD were low gestation week, duration of intubation, and proven sepsis (p = .0001, p = .004, and p = .011, respectively). CONCLUSIONS: Early nCPAP treatment in preterm infants (≤32 weeks of gestation) decreases both the need for MV and the use of surfactant, but without a significant effect on BPD development. (No. 2016/324).


Asunto(s)
Displasia Broncopulmonar/etiología , Presión de las Vías Aéreas Positiva Contínua/efectos adversos , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Presión de las Vías Aéreas Positiva Contínua/estadística & datos numéricos , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Surfactantes Pulmonares/uso terapéutico , Estudios Retrospectivos
12.
Iran J Pediatr ; 25(1): e184, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26199686

RESUMEN

BACKGROUND: Noninvasive transcutaneous carbon dioxide monitoring has been shown to be accurate in infants and children, limited data are available to show the usefulness and limitations of partial transcutaneous carbon dioxide tension (PtCO2) value. OBJECTIVES: The current study prospectively determines the effectiveness and accuracy of PtCO2 measurements in newborns. MATERIALS AND METHODS: Venous blood gas sampling and monitoring of the PtCO2 level (TCM TOSCA, Radiometer) were done simultaneously. All measurements are performed on mechanically ventilated infants. Partial venous carbon dioxide tension (PvCO2) values divided into three groups according to hypocapnia (Group 1: < 4.68 kPa), normocapnia (Group 2: 4.68-7.33 kPa), hypercapnia (Group 3: > 7.33 kPa) and then PvCO2 and PtCO2 data within each group were compared separately. RESULTS: A total of 168 measurements of each PvCO2 and PtCO2 data were compared in three separated groups simultaneously (13 in Group 1, 118 in Group 2, and 37 in Group 3). A bias of more than ± 0.7 kPa was considered unacceptable. PtCO2 was related to PvCO2 with acceptable results between the two measurements in hypocapnia (mean difference 0.20 ± 0.19 kPa) and normocapnia (0.002 ± 0.30 kPa) groups. On the other hand in hypercapnia group PtCO2 values were statistically significant (P < 0.001) and lower than PvCO2 data (mean difference 0.81 ± 1.19 kPa). CONCLUSIONS: PtCO2 measurements have generally good agreement with PvCO2 in hypocapnic and normocapnic intubated infants but there are some limitations especially with high level of CO2 tension. Monitoring of PtCO2 is generally a useful non-invasive indicator of PvCO2 in hypocapnic and normocapnic infants.

13.
Pituitary ; 18(4): 456-60, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25145448

RESUMEN

BACKGROUND: Stuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis. OBJECTIVES: HPA function was investigated in three STWS patients to characterise consequences of impaired LIF/LIFR signalling on adrenal function. DESIGN: Six genetically proven STWS patients from four unrelated Turkish families were included in the study. Sudden death occurred in three before 2 years of age. Basal adrenal function tests were performed by measurement of early morning serum cortisol and plasma ACTH concentrations on at least two different occasions. Low dose synacthen stimulation test and glucagon stimulation tests were performed to explore adrenal function in three patients who survived. RESULTS: All patients carried the same LIFR (p.Arg692X) mutation. Our oldest patient had attenuated morning serum cortisol and plasma ACTH levels at repeated measurements. Two of three patients had attenuated cortisol response (<18 µg/dl) to glucagon, one of whom also had borderline cortisol response to low dose (1 µg) ACTH stimulation consistent with central adrenal insufficiency. CONCLUSIONS: STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling. LIF/LIFR system plays a role in human HPA axis regulation.


Asunto(s)
Insuficiencia Suprarrenal/genética , Hormona Adrenocorticotrópica/sangre , Exostosis Múltiple Hereditaria/genética , Hidrocortisona/sangre , Sistema Hipotálamo-Hipofisario/metabolismo , Subunidad alfa del Receptor del Factor Inhibidor de Leucemia/genética , Osteocondrodisplasias/genética , Sistema Hipófiso-Suprarrenal/metabolismo , Insuficiencia Suprarrenal/metabolismo , Niño , Preescolar , Estudios de Cohortes , Exostosis Múltiple Hereditaria/metabolismo , Femenino , Humanos , Lactante , Masculino , Mutación , Osteocondrodisplasias/metabolismo , Transducción de Señal
14.
Am J Med Genet A ; 164A(9): 2200-5, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24988918

RESUMEN

Stuve-Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems and high mortality in early life. It is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR; 151443) on chromosome 5p13. We provide the clinical follow-up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p.Arg692X) and three patients carried a common haplotype at the LIFR locus supporting a founder effect in the Turkish population. The probable pathogenesis of the features is also discussed. Osseous findings in the presence of other above-mentioned morbid conditions should raise the suspicion of SWS in neonates especially in Arabic and Eastern Mediterranean countries with high rate of consanguineous marriages like in Turkey. Severe osteoporosis, bone deformities, milias, leukocoria, inflammatory lesions on distal extremities, tongue biting behavior and oral ulcers could be more prominent features of the survivors beyond the neonatal period while respiratory and feeding problems are remitting. It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling.


Asunto(s)
Exostosis Múltiple Hereditaria/diagnóstico , Osteocondrodisplasias/diagnóstico , Niño , Preescolar , Exostosis Múltiple Hereditaria/diagnóstico por imagen , Exostosis Múltiple Hereditaria/genética , Resultado Fatal , Sitios Genéticos , Genotipo , Humanos , Lactante , Subunidad alfa del Receptor del Factor Inhibidor de Leucemia/genética , Mutación/genética , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Fenotipo , Radiografía
15.
J Clin Res Pediatr Endocrinol ; 4(3): 151-3, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22664361

RESUMEN

Congenital adrenal hyperplasia (CAH) is a group of disorders affecting the adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency (21-OHD), leads to decreased production of cortisol and aldosterone with increased androgen secretion. In classic CAH, glucocorticoid treatment can be life-saving and serves to bring the symptoms under control. However, the treatment challenge is to effectively control the excess androgen effect by using the lowest possible glucocorticoid dose. Previous studies suggested a relationship between ovarian cyst formation and adrenal androgen excess, but neonatal large ovarian cysts have been very rarely reported in newborns with CAH. Here, we present the unique case of a neonate with classical 21-OHD who underwent surgery for a giant (10x8x7 cm) unilateral solitary ovarian follicular cyst on the 2nd postnatal day. Hormonal evaluation of the patient revealed high-dose hook effect for serum testosterone levels for the first time by a two-site immunoradiometric assay. Possible mechanisms by which androgen excess may cause ovarian cyst formation are discussed.


Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Quistes Ováricos/complicaciones , Testosterona/sangre , Femenino , Quiste Folicular/sangre , Quiste Folicular/complicaciones , Quiste Folicular/patología , Quiste Folicular/cirugía , Humanos , Recién Nacido , Quistes Ováricos/sangre , Quistes Ováricos/patología , Quistes Ováricos/cirugía , Anomalía Torsional/sangre , Anomalía Torsional/complicaciones , Anomalía Torsional/patología , Anomalía Torsional/cirugía , Carga Tumoral
16.
Pediatr Hematol Oncol ; 29(4): 365-7, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22303931

RESUMEN

Malignant infantile osteopetrosis (MIOP) is a rare cause in the list of etiological factors of neonatal hypocalcemia in several textbooks. The most severe complication of MIOP is bone marrow suppression. The abnormal expansion of bone interferes with medullary haematopoiesis. Most children with this disease die within the first decade of life of secondary consequence of bone marrow failure. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for MIOP, an otherwise fatal disease. We present a neonate with MIOP that was further complicated with vitamin D deficiency.


Asunto(s)
Trasplante de Médula Ósea , Osteopetrosis/patología , Osteopetrosis/terapia , Femenino , Hematopoyesis , Humanos , Hipocalcemia/sangre , Lactante , Recién Nacido , Masculino , Osteopetrosis/sangre , Trasplante Homólogo , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/patología , Deficiencia de Vitamina D/terapia
17.
J Clin Res Pediatr Endocrinol ; 3(2): 98-100, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21750640

RESUMEN

Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.


Asunto(s)
Seudohipoaldosteronismo/terapia , Resinas de Intercambio de Catión/administración & dosificación , Canales Epiteliales de Sodio/genética , Femenino , Fluidoterapia , Genes Recesivos , Humanos , Recién Nacido , Mutación Puntual , Potasio en la Dieta/administración & dosificación , Seudohipoaldosteronismo/diagnóstico , Seudohipoaldosteronismo/genética , Cloruro de Sodio Dietético/administración & dosificación , Desequilibrio Hidroelectrolítico/terapia
18.
Acta Paediatr ; 96(8): 1214-9, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17655623

RESUMEN

AIM: To determine the value of high-sensitivity C-reactive protein (hs-CRP) in predicting risk factors for coronary heart disease (CHD) in children. METHODS: We measured hs-CRP levels in 51 children (11.79 +/- 3.14 years) with risk factors for CHD (hypercholesterolemia, hypertension, obesity, low HDL cholesterol and familial history of CHD). The results were compared with 26 children (12.98 +/- 2.59 years) without any risk factors. RESULTS: The children with risk factors had significantly higher serum levels of hs-CRP compared to the control group (3.33 +/- 4.58 vs. 0.92 +/- 1.90 mg/L, respectively, p < 0.01). CRP concentrations significantly increased in children with three or more risk factors. Hs-CRP levels correlated to body mass index (r = 0.411, p = 0.003), diastolic blood pressure (r = 0.323, p = 0.021), fibrinogen (r = 0.447 and p = 0.004) and HDL cholesterol levels (r =-0.461 and p = 0.001). Cutoff value for CRP was 1.04 mg/L with 58% sensitivity and 92% specificity. CONCLUSION: Serum hs-CRP level is a useful marker in screening the children who are under the risk of CHD in adulthood. Early identification of the children with risk factors and intervention for obesity, harmful habits and life style in childhood might decrease the incidence of coronary heart disease in adulthood.


Asunto(s)
Proteína C-Reactiva/análisis , Enfermedad Coronaria/sangre , Adolescente , Glucemia/análisis , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Preescolar , HDL-Colesterol/sangre , Enfermedad Coronaria/etiología , Femenino , Fibrinógeno/análisis , Humanos , Hipercolesterolemia/sangre , Hipercolesterolemia/complicaciones , Hipertensión/sangre , Hipertensión/complicaciones , Masculino , Obesidad/sangre , Obesidad/complicaciones , Valores de Referencia , Medición de Riesgo/métodos , Factores de Riesgo , Sensibilidad y Especificidad , Turquía
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