RESUMO
In congenital hyperinsulinemic hypoglycemia - the most common cause of persistent hypoglycemia in infancy - a focal lesion can be identified in 50% of the cases. With appropriate medical care based upon early diagnosis, these patients can be cured by the resection of the lesion rendering unnecessary long time medical care, and avoiding serious brain damage from recurrent hypoglycemic episodes. Genetic testing and 18F-fluoro-dihydroxyphenylalanine PET/CT imaging are essential for determining the best possible treatment. We report 2 cases of focal congenital hyperinsulinism - both male infants: 22 and 2 months of age - treated successfully with enucleation of the pancreas lesion (Semmelweis University, Budapest). Both patients had the pathognomonic mutation of the ABCC8 gene of the ATP-sensitive potassium channel. Radiologic imaging and histology confirmed the diagnosis, and after the operation, pharmacological treatment was terminated in both cases. During the follow-up period (5 and 1.5 years, respectively) they are euglycemic, with no morbidities attributed to the operation. We believe that these two operations for focal hyperinsulinism - diagnosed and localised by the above detailed genetic and specific radiological testing - were the first of their kind in Hungary. Based on the acquired experience, every necessary examination can be achieved in our country to improve patient care, reduce morbidity and medical costs. Orv Hetil. 2023; 164(47): 1877-1884.
Assuntos
Hiperinsulinismo Congênito , Hiperinsulinismo , Lactente , Humanos , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia por Emissão de Pósitrons/métodos , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/cirurgia , Pâncreas/patologia , Mutação , Hiperinsulinismo/patologiaRESUMO
Despite intensive efforts to improve therapies, small cell lung cancer (SCLC) still has a dismal median survival of 18 months. Since miR-126 is under-expressed in the majority of SCLC tumors, we investigated the effect of miR-126 overexpression on the proliferation and cell cycle distribution of H69 cells. Our results demonstrate that miR-126 inhibits proliferation of H69 cells, by delaying the cells in the G1 phase. Short interfering RNA (siRNA) mediated suppression of SLC7A5, a predicted target of mir-126, has the same effect on H69 cells. We also show for the first time that SLC7A5 is a direct target of miR-126.
Assuntos
Proliferação de Células , Transportador 1 de Aminoácidos Neutros Grandes/genética , Neoplasias Pulmonares/genética , MicroRNAs/genética , Carcinoma de Pequenas Células do Pulmão/genética , Western Blotting , Linhagem Celular Tumoral , Fase G1/genética , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Transportador 1 de Aminoácidos Neutros Grandes/metabolismo , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patologia , Interferência de RNA , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Carcinoma de Pequenas Células do Pulmão/metabolismo , Carcinoma de Pequenas Células do Pulmão/patologia , Fatores de Tempo , Análise Serial de TecidosRESUMO
Contrast-enhanced voiding urosonography (VUS) is becoming more widely used for the diagnosis of vesicoureteric reflux (VUR). The purpose of this study was to evaluate the sensitivity of VUS using a second-generation ultrasound (US) contrast agent and compare it with standard fluoroscopic voiding cystourethrography (VCUG). A total of 183 children with 366 kidney-ureter units (KUUs) underwent VUS and VCUG in the same session with the same catheterization. VUS was performed after intravesical administration of 1 ml of a second-generation ultrasound contrast agent (UCA; SonoVue, Bracco, Italy). VUR was detected in 140 out of 366 cases (38%); in 89 (24.3%) by both methods, in 37 (10.1%) by VUS only, and in 14 (3.8%) by VCUG only. Although there was considerable agreement in the diagnosis of VUR by VUS and VCUG (κ=0.68, standard error [κ]=0.04), the difference in the detection rate of reflux between VUS and VCUG was significant (p<0.00001). The grade of VUR detected with VUS showed moderate agreement with grading by VCUG. Our findings suggest that contrast-enhanced harmonic VUS using a second-generation contrast agent is superior to VCUG in the detection and grading of VUR, and it should be the method of choice for this clinical indication.
Assuntos
Meios de Contraste , Ultrassonografia/métodos , Uretra/diagnóstico por imagem , Bexiga Urinária/diagnóstico por imagem , Micção/fisiologia , Refluxo Vesicoureteral/diagnóstico por imagem , Criança , Estudos Transversais , Feminino , Fluoroscopia , Humanos , Rim/diagnóstico por imagem , Masculino , Fosfolipídeos , Sensibilidade e Especificidade , Hexafluoreto de Enxofre , Ureter/diagnóstico por imagemRESUMO
INTRODUCTION: Acute lobar nephronia is a focal interstitial inflammation of the kidney healing well on conservative therapy. OBJECTIVE: Authors call attention on this rare pathological entity and emphasize the role of the imaging modalities in making the diagnosis. Short literature review is also given. PATIENT AND METHODS: An 11 months old babyboy presented with febrile seizure and palpable right flank mass. Abdominal sonography and CT were done. RESULTS: Urine analysis gave evidence of upper urinary tract infection. Hyperechogenic solid mass in the right kidney was seen on sonography. Diagnosis of infection suspected on sonography has been confirmed by abdominal CT scan and possibility of tumor has been ruled out. Acute lobar nephronia was diagnosed and the patient has been treated successfully with antibiotics. CONCLUSION: Acute lobar nephronia may mimic both abscess and tumor. Differential diagnosis is very important because treatment of acute lobar nephronia is nonsurgical.
Assuntos
Nefrite/diagnóstico , Abscesso/diagnóstico , Doença Aguda , Diagnóstico Diferencial , Humanos , Lactente , Nefropatias/diagnóstico , Neoplasias Renais/diagnóstico , Masculino , Nefrite/complicações , Nefrite/diagnóstico por imagem , Nefrite/terapia , Convulsões Febris/etiologia , UltrassonografiaRESUMO
INTRODUCTION: Complications of multicystic dysplastic kidney are rare, but hypertension and malignant transformation represent real danger. PATIENTS/METHODS: In a 10-year period, 94 infants (60 boys, 34 girls) with multicystic dysplastic kidney were diagnosed. The data obtained from these patients were compared to 70 children with solitary kidney of which 36 were newborns. In 80 cases (85%) the diagnosis of multicystic dysplastic kidney was already suspected by prenatal sonography. RESULTS: Abnormalities of the contralateral kidney were found in 15 of the 94 patients (16%). Complete involution of the multicystic dysplastic kidney was observed in 19, and a decrease in size in 42%. In 37 children (39%) the dysplastic kidney has been removed at the age of about 1 year because of no involution. The length of the contralateral kidney, compared to the normal standard was already significantly larger at birth. In newborn babies with unilateral renal agenesia the solitary kidney was also significantly longer. CONCLUSIONS: Compensatory hypertrophy of single functioning kidneys occurs in utero both in patients with multicystic dysplastic kidney and in those with unilateral renal agenesia. Based on the results of these and previous studies, early nephrectomy cannot be recommended in the newborn period. Surgery remains an option for patients who have no involution at the time of about 1 year of age.