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1.
Clin Endocrinol (Oxf) ; 100(1): 19-28, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37814958

RESUMEN

OBJECTIVE: Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases. DESIGN: National, multicenter and retrospective study. PATIENTS: All centres were asked to complete a form including questions regarding initial complaints, physical examination findings, diagnostic tests, treatment modalities and follow-up data of the children with CD between December 2015 and March 2017. MEASUREMENTS: Diagnostic tests of CD and tumour size. RESULTS: Thirty-four patients (M:F = 16:18) from 15 tertiary centres were enroled. The most frequent complaint and physical examination finding were rapid weight gain, and round face with plethora, respectively. Late-night serum cortisol level was the most sensitive test for the diagnosis of hypercortisolism and morning adrenocorticotropic hormone (ACTH) level to demonstrate the pituitary origin (100% and 96.8%, respectively). Adenoma was detected on magnetic resonance imaging (MRI) in 70.5% of the patients. Transsphenoidal adenomectomy (TSA) was the most preferred treatment (78.1%). At follow-up, 6 (24%) of the patients who underwent TSA were reoperated due to recurrence or surgical failure. CONCLUSIONS: Herein, national data of the clinical experience on paediatric CD have been presented. Our findings highlight that presenting complaints may be subtle in children, the sensitivities of the diagnostic tests are very variable and require a careful interpretation, and MRI fails to detect adenoma in approximately one-third of cases. Finally, clinicians should be aware of the recurrence of the disease during the follow-up after surgery.


Asunto(s)
Adenoma , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT) , Neoplasias Hipofisarias , Adulto , Humanos , Niño , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/diagnóstico , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/cirugía , Neoplasias Hipofisarias/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Adenoma/patología , Hidrocortisona
2.
J Ultrasound Med ; 37(5): 1143-1149, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29064111

RESUMEN

OBJECTIVES: To evaluate the parenchymal elasticity of the thyroid gland with acoustic radiation force impulse imaging in pediatric patients with Hashimoto thyroiditis and to compare it with healthy volunteers. METHODS: Twenty-six patients with Hashimoto thyroiditis and 26 healthy volunteers between 6 and 17 years were included. The shear wave velocity (SWV) values of both thyroid lobes in both groups were evaluated. RESULTS: The age and sex characteristics of the controls and patients with Hashimoto thyroiditis were similar. The SWV of the thyroid gland in patients with Hashimoto thyroiditis (mean ± SD, 1.67 ± 0.63 m/s) was significantly higher than that in the control group (1.30 ± 0.13 m/s; P < .001). There was no significant difference between the thyroid lobes in both groups. A receiver operating characteristic curve analyses showed an optimal cutoff value of 1.41 m/s, with 73.1% sensitivity, 80.8% specificity, a 79.2 % positive predictive value, and a 75.0% negative predictive value (area under the curve, 0.806; P < .001). In patients with Hashimoto thyroiditis, there was a positive correlation between the SWV values versus anti-thyroperoxidase (Pearson r = 0.46; P = .038). There were no correlations between age, body mass index, thyroid function test results, and anti-thyroglobulin values and versus SWV values. Also, no significant differences were seen between the groups for gland size, gland vascularity, and l-thyroxine treatment. CONCLUSIONS: Acoustic radiation force impulse elastography showed a significant difference in the stiffness of the thyroid gland between children with Hashimoto thyroiditis and the healthy group. Using acoustic radiation force impulse elastography immediately after a standard ultrasound evaluation may predict chronic autoimmune thyroiditis.


Asunto(s)
Diagnóstico por Imagen de Elasticidad/métodos , Enfermedad de Hashimoto/diagnóstico por imagen , Enfermedad de Hashimoto/fisiopatología , Glándula Tiroides/diagnóstico por imagen , Glándula Tiroides/fisiopatología , Adolescente , Niño , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados
3.
AJR Am J Roentgenol ; 209(5): 1143-1149, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28871805

RESUMEN

OBJECTIVE: The aim of this study is to determine the effects of type 1 diabetes on pancreas and kidney elasticity in children, using acoustic radiation force impulse ultrasound elastography. SUBJECTS AND METHODS: Sixty autoantibody-positive patients with type 1 diabetes (45% girls; mean [± SD] age, 11.7 ± 4.4 years; range, 1.9-19.3 years) admitted to the pediatric endocrinology outpatient clinic and 32 healthy children (50% girls; mean age, 10.2 ± 3.8 years; range, 2.1-17.3 years) were included in the study. Acoustic radiation force impulse elastography measurements were performed of the kidneys and pancreas in both groups. Body mass index, duration of diabetes, HbA1c levels, and insulin dosage of patients with type 1 diabetes were recorded. RESULTS: The mean shear-wave velocities of the pancreas were 0.99 ± 0.25 m/s in patients with type 1 diabetes and 1.09 ± 0.22 m/s in healthy control subjects; the difference was not significant (p = 0.08). The median shear-wave velocities of the right and left kidneys in patients with type 1 diabetes were 2.43 ± 0.29 and 2.47 ± 0.25 m/s, respectively. There were no significant differences in the shear-wave velocities of the right and left kidneys between the patients with type 1 diabetes and the healthy control subjects (p = 0.91 and p = 0.73, respectively). Correlation analysis showed no correlation between the shear-wave velocities of the pancreas and kidney versus HbA1c level, duration of diabetes, insulin dosage, height, weight, and body mass index of the patients with type 1 diabetes. CONCLUSION: The current study showed no significant difference in the shear-wave velocity of kidneys in children with type 1 diabetes with normoalbuminuria compared with the healthy control subjects. We also observed that the shear-wave velocity of the pancreas in children with type 1 diabetes and healthy control subjects did not differ significantly.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Diagnóstico por Imagen de Elasticidad , Elasticidad , Riñón/diagnóstico por imagen , Páncreas/diagnóstico por imagen , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Humanos , Lactante , Riñón/fisiopatología , Masculino , Páncreas/fisiopatología , Adulto Joven
4.
J Ultrasound Med ; 36(11): 2337-2344, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28586157

RESUMEN

OBJECTIVES: Our aims in this study were as follows: (1) to determine the cutoff value that can distinguish between advanced liver fibrosis and normal liver tissue for two different elastographic techniques; (2) to determine the cutoff value that can distinguish mild liver fibrosis from normal liver tissue for the techniques; and (3) to assess tissue stiffness in nonalcoholic fatty liver disease (NAFLD). METHODS: Seventy-five patients assessed for liver biopsy on the same day were evaluated by point shear wave elastography. Thirty-one healthy children and 11 children with NAFLD were also evaluated. A 9L4 transducer with Virtual Touch quantification (VTQ) and Virtual Touch imaging and quantification (VTIQ) modes (Siemens Medical Solutions, Mountain View, CA) was used for quantification. RESULTS: The shear wave speed of the patients with NAFLD was higher than that of the control group. The only predictive factor for VTQ and VTIQ was the histologic fibrosis score (model-adjusted R2 = 0.56 for VTQ and 0.75 for VTIQ). Shear wave speed cutoffs were 1.67 m/s for VTQ and 1.56 m/s for VTIQ in detecting fibrosis or inflammation and 2.09 m/s for VTQ and 2.17 m/s for VTIQ in discriminating children with low and high histologic liver fibrosis scores. CONCLUSIONS: The VTQ and VTIQ values reveal high-grade histopathologic fibrosis and have high success rates when distinguishing high- from low-grade fibrosis. However, they have limited success rates when differentiating low-grade fibrosis from normal liver tissue.


Asunto(s)
Diagnóstico por Imagen de Elasticidad/métodos , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Enfermedad del Hígado Graso no Alcohólico/diagnóstico por imagen , Enfermedad del Hígado Graso no Alcohólico/patología , Biopsia , Niño , Preescolar , Femenino , Humanos , Hígado/diagnóstico por imagen , Hígado/patología , Masculino , Estudios Prospectivos , Reproducibilidad de los Resultados , Índice de Severidad de la Enfermedad
5.
Arch Ital Urol Androl ; 89(3): 203-207, 2017 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-28969405

RESUMEN

OBJECTIVE: To present the underlying etiological factors in patients referring with priapism, sharing how they are managed according to etiology and priapism type together with our experiences, creating awareness so that urologists and emergency physicians may play a more active role together in priapism management. MATERIALS AND METHODS: Patients referring to emergency service with priapism were examined. Penile Doppler ultrasonography (PDU) and/or corporeal aspiration and blood gas analysis were made in order to determine priapism type after anamnesis and physical examination. The most appropriate treatment option was chosen and applied on the patients considering priapism type, underlying etiological factors and priapism time. Presence of a statistical difference between etiological factors causing priapism, priapism type and applied treatment methods was calculated using Chi square (χ2) test. RESULTS: A total of 51 patients referring to emergency service with priapism attacks for 53 times were included in the evaluation. When compared to other etiological factors, number of priapism cases developing secondary to papaverine after PDU was found statistically significantly high (p < 0.001). Ischemic priapism ratio was detected statistically higher compared to other groups (p < 0.001). Aspiration and/or irrigation treatment were the most common method used for treatment at a statistically significant level (p < 0.001). All patients (100%) were hospitalized in urology service without applying any treatment in emergency service and had treatment and intervention under the control of the urologist. CONCLUSIONS: Application of non-invasive treatments in suitable priapism patients would protect patients from invasive painful interventions. We believe that emergency physicians should be more effective in priapism phase management and at least noninvasive treatment phase.


Asunto(s)
Servicio de Urgencia en Hospital/estadística & datos numéricos , Médicos/estadística & datos numéricos , Priapismo/terapia , Ultrasonografía Doppler/métodos , Adolescente , Adulto , Anciano , Actitud del Personal de Salud , Análisis de los Gases de la Sangre , Niño , Hospitalización/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Papaverina/administración & dosificación , Papaverina/efectos adversos , Priapismo/diagnóstico por imagen , Priapismo/etiología , Urólogos/estadística & datos numéricos , Adulto Joven
6.
Ginekol Pol ; 88(9): 469-74, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29949336

RESUMEN

Objectives: The aim of this study was to evaluate the relationship between in vitro fertilization (IVF) cycle outcomes, serum and follicular fluid (FF) levels of leptin and ghrelin. Material and methods: Forty-four women who underwent intracytoplasmic sperm injection cycles (ICSI) were enrolled in the study. On the third day (D3) of the menstrual cycle, venous blood samples were drawn for serum measurements of leptin and ghrelin. The follicular fluid (FF) and the corresponding oocyte were obtained from a single dominant preovulatory follicle at the time of oocyte pick-up. The FF and D3 serum leptin and ghrelin concentrations were measured by enzyme-linked immunosorbent assay. The relationship between pregnancy rate and serum, follicular fluid levels of leptin and ghrelin were analyzed. Results: Of the 44 cases included, nineteen achieved clinical pregnancy (43.18%). Follicular fluid ghrelin levels were significantly lower in the pregnant group than non-pregnant group (p < 0.05) With respect to FF leptin, there was no statistically significant differences between the pregnant and non-pregnant women (p > 0.05). There was no statistically significant difference in D3 serum ghrelin between pregnant and non-pregnant groups (p > 0.05). However, D3 serum leptin levels were significantly lower in pregnant women than non-pregnant women (p < 0.05). Conclusions: Lower ghrelin levels in the follicular fluid were associated with higher pregnancy rates. Also, D3 serum leptin levels were inversely correlated with clinical pregnancy rates. These findings support the potential role of these molecules on IVF outcomes.


Asunto(s)
Fertilización In Vitro , Líquido Folicular/metabolismo , Ghrelina/metabolismo , Leptina/metabolismo , Índice de Embarazo , Adulto , Femenino , Humanos , Embarazo , Inyecciones de Esperma Intracitoplasmáticas
7.
Am J Med Genet A ; 170A(4): 942-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26788866

RESUMEN

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.


Asunto(s)
Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto Joven
8.
Pediatr Int ; 58(7): 562-8, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26646324

RESUMEN

BACKGROUND: Bisphosphonates are used in the treatment of vitamin D intoxication (VDI) after failure of conventional therapy including prednisolone. Safety concerns restrict the use of bisphosphonates from being used as first-line therapy for VDI in children. The aim of this study was to evaluate the efficacy and safety of pamidronate in comparison with prednisolone in children with VDI. METHODS: We reviewed the hospital records of children consecutively diagnosed with VDI at two medical centers in a 15 year period. RESULTS: The subjects consisted of 21 children (age, 0.3-4.2 years) who were treated with prednisolone and/or bisphosphonates. Pamidronate (n = 18) or alendronate (n = 3) was used in six patients after unsuccessful prednisolone treatment, and in 15 patients from baseline. Initial serum calcium and 25-hydroxyvitamin D were 16.1 ± 1.9 mg/dL and 493 ± 219 ng/mL, respectively. The median time to reach normocalcemia in the pamidronate, alendronate and prednisolone groups was 3 days (range, 2-12 days), 4 days (range, 3-6 days) and 17 days (range, 12-26 days), respectively (P = 0.013). The pamidronate group had a fivefold shorter hospital stay than the prednisolone group. Three patients initially treated with prednisolone developed nephrocalcinosis but this did not occur in any patient treated with bisphosphonates from baseline. Apart from transient fever and moderate hypophosphatemia, no side-effect of bisphosphonate treatment was observed. CONCLUSIONS: Pamidronate is efficient and safe for the treatment of VDI in children. Pamidronate use significantly shortens the duration of treatment, and thereby may prevent the development of nephrocalcinosis. Instead of prednisolone, pamidronate should be used together with hydration and furosemide as the first-line therapy for VDI.


Asunto(s)
Difosfonatos/administración & dosificación , Sobredosis de Droga/tratamiento farmacológico , Vitamina D/envenenamiento , Administración Oral , Conservadores de la Densidad Ósea/administración & dosificación , Preescolar , Sobredosis de Droga/sangre , GTP Fosfohidrolasas , Humanos , Lactante , Pamidronato , Estudios Retrospectivos , Resultado del Tratamiento , Vitamina D/análogos & derivados , Vitamina D/sangre
9.
Arch Ital Urol Androl ; 87(4): 286-90, 2016 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-26766799

RESUMEN

OBJECTIVE: To compare the results of patients who underwent retrograde intrarenal surgery (RIRS) using endovisional technique for ureteral sheat locating with control group in which endovisional technique was not applied. MATERIAL AND METHODS: Of the 41 patients who underwent RIRS treatment for kidney stone, between March 2014- August 2015, 19 patients treated with endovisional technique formed the study group and remaining 22 patients formed the control group. Patients were evaluated for age and gender, baseline and post procedural creatinine level, duration of operation, fluoroscopy and hospitalization time, size and localization of the stone, presence of multiple stones, previous shock wave lithotripsy (SWL) procedure, double J catheter requirement, complication rate, residual stone rate and absence of stone ratio. RESULTS: There was no statistically significant difference between age, gender, location of the stone, previous SWL procedure, presence of multiple stones, baseline and postprocedural creatinine level, absence of stone ratio, double J catheter requirement and hospitalization duration between the groups. The duration of operation and fluoroscopy of the patients were significantly shorter than the control group (p = 0.036 and p < 0.001, respectively). The complication rates of the endovisional technique group was significantly lower than that of the control group (p = 0.032). CONCLUSION: Endovisional technique is considered to be an appropriate and useful technique in order to locate the sheath safely in patients who has difficulty in ureteral access sheath locating and to decrease the duration of operation and fluoroscopy.


Asunto(s)
Cálculos Renales/cirugía , Litotricia , Nefrectomía , Nefrostomía Percutánea , Ureteroscopía , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Cálculos Renales/patología , Masculino , Persona de Mediana Edad , Nefrectomía/métodos , Resultado del Tratamiento
10.
Ren Fail ; 37(7): 1118-21, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26067745

RESUMEN

OBJECTIVE: To determine the impact of percutaneous nephrolithotomy (PNL) on global and regional renal function in children. METHODS: In total, 40 children (41 renal units) undergoing PNL were included in this prospective study. All patients were evaluated using quantitative single-photon emission computed tomography (QSPECT) with technetium-99 m-dimercaptosuccinic acid ((99m)Tc-DMSA) examinations before and 3 months after surgery. RESULTS: The mean age was 9.5 years (range, 3-16), and the mean stone size was 3.4 cm (range, 2-6.5). Of the cases, 39 (95%) were managed as being stone-free after a single session of PNL. After additional treatment procedures, 40 (97.5%) of the cases were managed as being stone-free. Of the 41 renal units, new focal cortical defects on (99m)Tc-DMSA scans were seen in 4 (9.7%) patients. Total relative uptake in the treated kidneys increased from 42.3% to 44.1%. The mean creatinine level before PNL was 1.18 ± 0.45 (0.8-1.6) mg/dL compared with 1.16 (0.7-1.5) mg/dL by the end of the follow-up period (not statistically significantly different, p > 0.05). CONCLUSIONS: PNL in children is a safe and feasible method for the maximal clearance of stones. QSPECT of (99m)Tc-DMSA confirmed that renal function is preserved or even improved after percutaneous stone removal.


Asunto(s)
Cálculos Renales/cirugía , Riñón/cirugía , Nefrostomía Percutánea/métodos , Tomografía Computarizada de Emisión de Fotón Único/métodos , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Radiofármacos/administración & dosificación , Ácido Dimercaptosuccínico de Tecnecio Tc 99m/administración & dosificación
11.
Eur J Pediatr ; 173(12): 1627-30, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24221609

RESUMEN

UNLABELLED: Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic markers (X22, DXYS218, DXYS267, HPRT) on the X chromosome by the quantitative fluorescent polymerase chain reaction (QF-PCR) method demonstrated that the extra X chromosomes were maternal in origin. CONCLUSION: Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. In order to understand a potential impact of the parental origin of the extra X chromosomes on ovarian development and function, further studies are needed.


Asunto(s)
Cromosomas Humanos X/genética , Anomalías Craneofaciales/complicaciones , Discapacidad Intelectual/complicaciones , Insuficiencia Ovárica Primaria/etiología , Adolescente , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Cariotipo , Reacción en Cadena de la Polimerasa , Insuficiencia Ovárica Primaria/diagnóstico , Insuficiencia Ovárica Primaria/terapia , Aberraciones Cromosómicas Sexuales
12.
J Clin Res Pediatr Endocrinol ; 15(2): 214-219, 2023 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-34645113

RESUMEN

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disease caused by activating mutations in the arginine vasopressin (AVP) receptor-2 (AVPR2) gene. Affected patients excrete concentrated urine despite very low levels of AVP, and consequently develop euvolemic hyponatremia. Due to its low frequency, patients may be misdiagnosed and treated incorrectly. We report two related male infants with NSIAD that was initially confused with hyporeninemic hypoaldosteronism (HH). First, a 2-month-old male presented with hyponatremia, low plasma osmolality, relatively high urine osmolality, and low plasma renin-aldosterone levels. These clinical and laboratory findings were compatible with syndrome of inappropriate antidiuretic hormone (ADH) secretion without apparent cause. Consequently, fludrocortisone was initiated with a presumptive diagnosis of HH. While correcting hyponatremia, fludrocortisone treatment led to hypertension and was discontinued promptly. The second patient, aged one year, was admitted with a history of oligohydramnios, had been hospitalized four times due to hyponatremia since birth, and had a diagnosis of epilepsy. Similarly, the second infant had clinical and laboratory findings compatible with syndrome of inappropriate ADH secretion with no apparent cause. Fluid restriction normalized his serum sodium despite the plasma AVP level being undetectable. In both infants, AVPR2 gene analysis revealed a known mutation (c.409C>T; p.R137C) and confirmed the diagnosis of NSIAD. In conclusion, NSIAD should be considered in all patients with unexplained euvolemic hyponatremia despite high urine osmolality. If NSAID is not considered, the plasma reninaldosterone profile can be confused with HH, especially in infants.

13.
Urolithiasis ; 51(1): 69, 2023 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-37043027

RESUMEN

Our presented study aimed to evaluate the possible effects of stone opacity, on both the success of percutaneous nephrolithotomy and the sizes of residual fragments following the procedure. Medical records of patients undergoing PCNL treatment for kidney stones at our clinic between July 2014 and May 2022 were evaluated in a retrospective manner. A total sample size of 304 patients with the required criteria was included. Patients were divided into two groups based on the radiopacity status of the stones assessed in the kidney-ureter-bladder graphy (KUB) [Group O (n = 211): opaque, Group N (n = 93): non-opaque)]. Demographic data, laboratory results, and surgical follow-up information were comparatively evaluated between groups. The mean age and percentage of female patients were higher in Group N (45.2 vs. 25,1%; p < 0.001). Also, patients in this group were associated with more comorbidities. No significant difference was present regarding stones' laterality, size, surface area, and localization. Cases in the Group N group demonstrated higher median hemoglobin reduction [1.7 (IQR = 1.2-2.5) vs. 2 (IQR = 1.6-2.6); p = 0.047]. The stone-free rates in Group O patients were higher (67.8% vs. 53.8%; p = 0.014). The size of the residual fragments was meaningfully larger in Group N cases [8 (IQR = 7-13) vs. 10 (IQR = 8-16); p = 0.032]. Finally, no significant difference was observed between the groups regarding both minor (as grade 3a and below) and major (grade 3b and above) assessed by the Modified Clavien-Dindo Classification. Our data show that treatment of patients with so-called non-opaque kidney stones by PCNL results in low SFR and larger residual fragments, which is due to a variety of errors that should be avoided by appropriate measures.


Asunto(s)
Cálculos Renales , Nefrolitotomía Percutánea , Nefrostomía Percutánea , Uréter , Humanos , Femenino , Nefrolitotomía Percutánea/efectos adversos , Estudios Retrospectivos , Cálculos Renales/diagnóstico por imagen , Cálculos Renales/cirugía , Riñón/diagnóstico por imagen , Riñón/cirugía , Resultado del Tratamiento , Nefrostomía Percutánea/efectos adversos
14.
Eur Thyroid J ; 12(3)2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-36913313

RESUMEN

Objective: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from the genetic investigation. We aimed to investigate the genetic etiology of transient CH (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby evaluate the impact of genetic testing on the management and prognosis of children with CH. Methods: A total of 48 CH patients with normal, goitrous (n 5) or hypoplastic thyroid (n 5) were studied by high-throughput sequencing using a custom-designed 23-gene panel. Patients initially categorized as TCH (n 15), PCH (n 26) and persistent hyperthyrotropinemia (PHT, n 7) were re-evaluated after genetic testing. Results: Re-evaluation based on genetic testing changed the initial diagnoses from PCH to PHT (n 2) or TCH (n 3) and from PHT to TCH (n 5), which resulted in a final distribution of TCH (n 23), PCH (n 21) and PHT (n 4). Genetic analysis also allowed us to discontinue treatment in five patients with monoallelic TSHR or DUOX2, or no pathogenic variants. The main reasons for changes in diagnosis and treatment were the detection of monoallelic TSHR variants and the misdiagnosis of thyroid hypoplasia on neonatal ultrasound in low birthweight infants. A total of 41 (35 different, 15 novel) variants were detected in 65% (n 31) of the cohort. These variants, which most frequently affected TG, TSHR and DUOX2, explained the genetic etiology in 46% (n 22) of the patients. The molecular diagnosis rate was significantly higher in patients with PCH (57%, n 12) than TCH (26%, n 6). Conclusions: Genetic testing can change diagnosis and treatment decisions in a small proportion of children with CH, but the resulting benefit may outweigh the burden of lifelong follow-up and treatment.


Asunto(s)
Hipotiroidismo Congénito , Bocio , Recién Nacido , Lactante , Humanos , Niño , Hipotiroidismo Congénito/diagnóstico , Oxidasas Duales/genética , Pruebas Genéticas , Bocio/genética , Tamizaje Neonatal/métodos
15.
Clin Endocrinol (Oxf) ; 77(4): 615-20, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22587848

RESUMEN

OBJECTIVE: Previous studies of the current iodine status in Turkey have yielded contradictory results. Although urinary iodine concentration (UIC) in school age children (SAC) suggests sufficient iodine status, studies on neonatal thyroid-stimulating hormone (TSH) indicate that iodine deficiency is a continuing problem. We aimed to assess the iodine nutritional status of pregnant women living in Ankara, an area that has appeared to be iodine sufficient in earlier studies. DESIGN: Hospital-based, noninterventional, prospective, cross-sectional study. METHODS: A total of 162 pregnant women in their second trimester were examined regarding iodized salt use, UIC, presence or absence of goitre and thyroid function. Goitre status was determined by palpation. UIC was measured using colorimetric method based on Sandell-Kolthoff reaction. Thyroid hormones and TSH were measured by chemiluminescence immunoassays. RESULTS: While the proportion of iodized salt use was 80·2%, UIC was below 150 µg/l in 72·8% of the women. The median UIC was 80·5 (8·9-340·3) µg/l, indicating insufficient iodine intake. Total goitre rate was 15·4%. Preferential T3 secretion reflected by elevated molar ratios of FT3/FT4 was present in 89·5% of the women. 12·4% had subclinical hypothyroidism or isolated hypothyroxinaemia based on serum TSH and FT4 levels. CONCLUSIONS: Our study shows that iodine deficiency is a serious problem among pregnant women in Ankara. These data confirm that iodine nutritional status among SAC does not reflect the iodine supply for pregnant women. We propose that nationwide surveillance studies should urgently be performed to directly assess and monitor the iodine status of pregnant women. We also consider that pregnant women in Turkey should be supplemented by iodine-containing preparations in addition to iodized salt.


Asunto(s)
Yodo/deficiencia , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Embarazo , Estudios Prospectivos , Turquía , Adulto Joven
16.
Diabetol Metab Syndr ; 14(1): 16, 2022 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-35073984

RESUMEN

OBJECTIVES: In this study, it was aimed to determine the prevalence and clinical features of obesity and metabolic syndrome, which are long-term effects of survivors after treatment in children with leukemia and lymphoma. PATIENTS AND METHODS: Patients with leukemia and lymphoma, who were diagnosed between 2000 and 2012 (at least 2 two years after remission) were included. Data obtained through reviewing the family history, demographic characteristics, anthropometric measurements, and laboratory parameters (blood glucose, lipid, and insulin levels) were analyzed and compared at the time of diagnosis, after the treatment and at time of the study. RESULTS: Eighty nine patients (45 boys, 44 girls) were included (mean age: 14.7 ± 4.3 years): 77.5% had acute lymphoblastic leukemia, 11.2% had acute myeloid leukemia, and 11.2% had lymphoma. Overall, 46% patients had received radiotherapy, 7% had undergone surgery, and 2.2% had received stem cell transplantation in addition to chemotherapy. The mean duration of treatment was 2.4 years, and the time elapsed after treatment was 4.9 years. While only one had obesity at the diagnosis, a significant increase in obesity (20%), hypertension (15.7%), hyperglycemia (15%), insulin resistance (35%) were observed at the time of study, and family history of hypertension, dyslipidemia, and cardiovascular diseases were significantly higher in this subgroup. CONCLUSION: The prevalence of metabolic syndorme is higher in children with leukemia and lymphoma after treatment, and begins to increase with the initiation of treatment and continues to increase over time. These children should be followed-up for late-effects including metabolic syndrome through life-long period.

17.
Urol Res ; 39(3): 171-6, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20967435

RESUMEN

Treatment of patients with solitary kidney having complex stones is one of the most challenging problem in urology. We present our experience with percutaneous nephrolithotomy (PCNL) in treating 16 patients with staghorn stones in a solitary kidney to determine long-term renal functional results. We retrospectively reviewed the records of 16 patients with complex caliceal or staghorn stones in a solitary kidney treated with PCNL. Demographic data, number and location of accesses, hemoglobin values, stone analyses, and complications were studied. Serum creatinine, glomerular filtration rate (GFR), systolic and diastolic blood pressure, new onset hypertension, and kidney morphology were determined preoperatively and postoperatively at 1 month and 1 year. Male to female ratio was 14:2 and mean age was 49.6 years (range 31-55). Of these, 10 (62.5%) patients required a single tract, while 6 (37.5%) required multiple tracts. The calculi were extracted or fragmented successfully in 13 (81.3%) patients and complete stone clearance was achieved after the first stage. In two patients with residual calculi, a double-J catheter was inserted and extracorporeal shock wave lithotripsy (SWL) was performed. There were no significant intraoperative problems except in one patient, who had bleeding from an infundibular tear attributable to torquing. During the 1-year study period, none of the patients progressed to end-stage renal disease requiring dialysis. We demonstrated a significant improvement in creatinine and GFR levels from preoperatively to 1-year follow-up. The number of patients with hypertension before PCNL was 5 and by the end of follow-up there was no new onset hypertension. The demonstrated effectiveness, small number of complications at short-term, not any poorly effect on renal function and blood pressure at the long-term follow-up confirm that PCNL is not only effective but is also safe in the solitary kidney with staghorn calculi.


Asunto(s)
Cálculos Renales/terapia , Riñón/fisiopatología , Nefrostomía Percutánea/métodos , Adulto , Presión Sanguínea/fisiología , Creatinina/sangre , Femenino , Estudios de Seguimiento , Tasa de Filtración Glomerular/fisiología , Humanos , Cálculos Renales/sangre , Cálculos Renales/fisiopatología , Litotricia , Masculino , Persona de Mediana Edad , Nefrostomía Percutánea/efectos adversos , Estudios Retrospectivos , Resultado del Tratamiento
18.
J Pediatr Endocrinol Metab ; 24(5-6): 265-9, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21823521

RESUMEN

OBJECTIVES: 1) To evaluate the effects of glucocorticoid (GC) doses on bone mineral density (BMD) in children with congenital adrenal hyperplasia (CAH), 2) Investigate other factors influencing BMD. METHODS: Twenty-six children with CAH and 11 healthy controls included in the study. All of the patients were examined with dual-energy X-ray absorptiometry (DXA) using a Hologic QDR 1000/W densitometer. The metabolic control state, age at diagnosis GC dose (mg/m2/day), pubertal status, 17 hydroxyprogesterone (17 OHP) levels, bone age (BA), and lumber BMD were evaluated in all cases. BMD (g/cm2), BMD z-score corrected to National Standards (cNS-BMD z-score), BMD z-score corrected to BA (cBABMD), bone mineral content (BMC), BMC corrected to puberty (cPBMC), and bone area (BAR) values were determined. Patients were grouped according to mean on-therapy serum 17 OHP levels as tight control (17 OHP<10 nmol/L) (n:13) and poor control (17 OHP>10 nmol/L) (n:13). All groups were compared with each other. RESULTS: The age range was 2.1-15.7 years and the mean age (+/- SD) 9.3 (+/- 3.5) years. There were no significant differences between the groups in terms of GC doses, lumbar BMD values [BMD (g/cm2), BMD z-score corrected to National Standards (cNS-BMD z-score), BMD z-score corrected to BA (cBABMD), bone mineral content (BMC), BMC corrected to puberty (cPBMC), and bone area (BAR)]. However, the BMI value was higher in children with CAH than normal healthy controls. The BA of the poor control, late diagnosed groups and male patients were higher than tight control, early diagnosed group and female patients, respectively. BMC and BA were lower than the control group in tight control with early diagnosed patients. The cBABMD z-score was lower in males with poor control than males with tight control. There were no similar results in female patients. CONCLUSIONS: Although GC treatment seems not to influence BMD in CAH patients in our study, further studies are needed to additionally evaluate daily calcium (Ca) intake, polymorphism of vitamin D receptor, ethnic factors (strict Islamic dress, etc.), socioeconomic status, and 24-h urinary free cortisol level.


Asunto(s)
Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/metabolismo , Densidad Ósea/efectos de los fármacos , Glucocorticoides/farmacología , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Determinación de la Edad por el Esqueleto , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino , Turquía
19.
Urol Int ; 87(1): 23-7, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21720147

RESUMEN

OBJECTIVES: Placement of multiple nephrostomy tubes is the standard practice after completion of multitract percutaneous nephrolithotomy (PCNL) to reduce hemorrhage and urinary extravasation.We compared the outcomes among tubeless, single nephrostomy drainage and multiple nephrostomy drainage tubes following PCNL requiring multiple tracts. METHODS: We retrospectively analyzed the data of 115 patients who underwent PCNL using multiple (two or more) access tracts. Patients were categorized into three groups: one nephrostomy tube for each tract (group 1, n = 43); single nephrostomy tube placement (group 2, n = 51), and no nephrostomy drainage with antegrade placement of a double-J stent (group 3, n = 21). RESULTS: The three groups had comparable demographic data. The differences in operative times, average hemoglobin decrease and complication rates for the three groups were not statistically significant. The average hospital stay in the tubeless group (mean 2.1 days) was significantly shorter than that in group 1 (4.2 days) and group 2 (3.5 days). The postoperative analgesic requirement was significantly higher in group 1 compared to group 2 (p < 0.05) and group 3 (p < 0.001). Stones were completely cleared in 83.7, 84.3 and 85.7% of patients, which increased to 90.7, 92.1, and 95.2% with adjunctive therapies in groups 1, 2 and 3, respectively. CONCLUSIONS: Single or no nephrostomy drainage following multitract PCNL offers the potential advantages of decreased postoperative analgesic requirement, and hospital stay without increasing the complications.


Asunto(s)
Drenaje , Cálculos Renales/terapia , Litotricia , Nefrostomía Percutánea , Adolescente , Adulto , Anciano , Analgésicos/uso terapéutico , Distribución de Chi-Cuadrado , Niño , Drenaje/efectos adversos , Drenaje/instrumentación , Humanos , Tiempo de Internación , Litotricia/efectos adversos , Litotricia/instrumentación , Persona de Mediana Edad , Nefrostomía Percutánea/efectos adversos , Nefrostomía Percutánea/instrumentación , Dolor Postoperatorio/etiología , Dolor Postoperatorio/prevención & control , Estudios Retrospectivos , Stents , Factores de Tiempo , Resultado del Tratamiento , Turquía , Adulto Joven
20.
Pediatr Surg Int ; 27(12): 1337-41, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21953523

RESUMEN

OBJECTIVES: To evaluate the effectiveness of ultrasonography and to determine whether ionizing radiation is necessary in the postoperative follow-up of children undergoing ureteroscopy. METHODS: We reviewed the charts of 49 children who underwent 51 ureteroscopic procedures for ureteral calculi. Renal ultrasound and intravenous urography were performed in all patients at 3 months after surgery for postoperative evaluation. RESULTS: In three cases, stones migrated to the kidney. Retrograde intrarenal surgery was performed in two patients and one patient required shockwave lithotripsy to become stone-free. Fourty-six children were completely stone-free and 3 had residual fragments on plain film in the postoperative 3 month. The sensitivity, specificity, negative and positive predictive values of ultrasonography for detecting hydronephrosis were 85.7, 100, 97.7 and 100%, respectively. Two patients under observation and three patients under medical expulsive therapy had resolution of hydronephrosis on follow-up. One patient required ureteroscopy for residual obstructing fragments. CONCLUSIONS: Ultrasonography has limited accuracy for detecting residual ureteral stones, but it is a highly specific and reasonably sensitive test for detecting hydronephrosis. A combination of ultrasonography and plain film is a safe and effective imaging procedure in postoperative follow-up of children undergoing ureteroscopy.


Asunto(s)
Hidronefrosis/diagnóstico por imagen , Cálculos Ureterales/diagnóstico por imagen , Ureteroscopía/métodos , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Hidronefrosis/etiología , Lactante , Masculino , Periodo Posoperatorio , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Ultrasonografía , Cálculos Ureterales/complicaciones , Cálculos Ureterales/cirugía
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