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1.
Orv Hetil ; 164(47): 1877-1884, 2023 Nov 26.
Article in Hungarian | MEDLINE | ID: mdl-38007812

ABSTRACT

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.


Subject(s)
Congenital Hyperinsulinism , Hyperinsulinism , Infant , Humans , Male , Positron Emission Tomography Computed Tomography , Positron-Emission Tomography/methods , Congenital Hyperinsulinism/diagnosis , Congenital Hyperinsulinism/genetics , Congenital Hyperinsulinism/surgery , Pancreas/pathology , Mutation , Hyperinsulinism/pathology
3.
Pediatr Nephrol ; 33(10): 1713-1721, 2018 10.
Article in English | MEDLINE | ID: mdl-29956005

ABSTRACT

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations of PKHD1. Nevertheless, 13-20% of patients diagnosed with ARPKD are found not to carry PKHD1 mutations by sequencing. Here, we assess whether PKHD1 copy number variations or second locus mutations explain these cases. METHODS: Thirty-six unrelated patients with the clinical diagnosis of ARPKD were screened for PKHD1 point mutations and copy number variations. Patients without biallelic mutations were re-evaluated and screened for second locus mutations targeted by the phenotype, followed, if negative, by clinical exome sequencing. RESULTS: Twenty-eight patients (78%) carried PKHD1 point mutations, three of whom on only one allele. Two of the three patients harbored in trans either a duplication of exons 33-35 or a large deletion involving exons 1-55. All eight patients without PKHD1 mutations (22%) harbored mutations in other genes (PKD1 (n = 2), HNF1B (n = 3), NPHP1, TMEM67, PKD1/TSC2). Perinatal respiratory failure, a kidney length > +4SD and early-onset hypertension increase the likelihood of PKHD1-associated ARPKD. A patient compound heterozygous for a second and a last exon truncating PKHD1 mutation (p.Gly4013Alafs*25) presented with a moderate phenotype, indicating that fibrocystin is partially functional in the absence of its C-terminal 62 amino acids. CONCLUSIONS: We found all ARPKD cases without PKHD1 point mutations to be phenocopies, and none to be explained by biallelic PKHD1 copy number variations. Screening for copy number variations is recommended in patients with a heterozygous point mutation.


Subject(s)
DNA Copy Number Variations , Heterozygote , Phenotype , Polycystic Kidney, Autosomal Recessive/genetics , Receptors, Cell Surface/genetics , Adolescent , Alleles , Child , Child, Preschool , DNA Mutational Analysis , Exons/genetics , Female , Genetic Testing , Humans , Infant , Infant, Newborn , Male , Point Mutation , Polycystic Kidney, Autosomal Recessive/diagnosis , Severity of Illness Index
4.
Virchows Arch ; 463(3): 445-58, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23807541

ABSTRACT

Preeclampsia is characterized by maternal systemic anti-angiogenic and pro-inflammatory states. Syndecan-1 is a cell surface proteoglycan expressed by the syncytiotrophoblast, which plays an important role in angiogenesis and resolution of inflammation. Our aim was to examine placental syndecan-1 expression in preeclampsia with or without hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. Placentas were obtained from women in the following groups: (1) late-onset preeclampsia (n = 8); (2) early-onset preeclampsia without (n = 7) and (3) with HELLP syndrome (n = 8); (4) preterm controls (n = 5); and (5) term controls (n = 9). Tissue microarrays (TMAs) were constructed from paraffin-embedded placentas. TMA slides were immunostained for syndecan-1 and evaluated using microscopy, virtual microscopy, and semi-automated image analysis. Maternal sera from patients with preeclampsia (n = 49) and controls (n = 32) were immunoassayed for syndecan-1. BeWo cells were treated with Forskolin or Latrunculin B or kept in ischemic conditions. SDC1 expression and syndecan-1 production were investigated with qRT-PCR, confocal microscopy, and immunoassays. Syndecan-1 was localized to the syncytiotrophoblast apical membrane in normal placentas. Syndecan-1 immunoscores were higher in late-onset preeclampsia (p = 0.0001) and early-onset preeclampsia with or without HELLP syndrome (p = 0.02 for both) than in controls. Maternal serum syndecan-1 concentration was lower in preeclampsia (median, 673 ng/ml; interquartile range, 459-1,161 ng/ml) than in controls (1,158 ng/ml; 622-1,480 ng/ml). SDC1 expression and syndecan-1 immunostainings in BeWo cells and syndecan-1 concentrations in supernatants increased during cell differentiation. Disruption of the actin cytoskeleton with Latrunculin B decreased syndecan-1 release, while ischemic conditions increased it. Syncytiotrophoblastic syndecan-1 expression depends on the differentiation of villous trophoblasts, and trophoblastic syndecan-1 release is decreased in preeclampsia and HELLP syndrome. This phenomenon may be related to the disturbed syncytiotrophoblastic cortical actin cytoskeleton and associated with maternal anti-angiogenic and pro-inflammatory states in these syndromes.


Subject(s)
HELLP Syndrome/metabolism , Placenta/metabolism , Pre-Eclampsia/metabolism , Syndecan-1/metabolism , Actins/drug effects , Actins/metabolism , Adult , Bridged Bicyclo Compounds, Heterocyclic/pharmacology , Case-Control Studies , Cell Differentiation , Cells, Cultured , Cytoskeleton/drug effects , Cytoskeleton/metabolism , Female , Humans , In Vitro Techniques , Pregnancy , Thiazolidines/pharmacology , Trophoblasts/cytology , Trophoblasts/drug effects , Trophoblasts/metabolism
5.
Neuropathology ; 32(3): 227-33, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22017293

ABSTRACT

Leukoaraiosis refers to an age-related, abnormal appearance of the brain white matter on neuroimaging. The association between leukoaraiosis and cerebrovascular disease suggests that ischemia may be an important contributing factor; however, the pathogenesis of the condition remains controversial. We hypothesized that physical abnormalities of blood vessels might be culpable and compared the external and internal measurements of blood vessel walls between brains that demonstrated leukoaraiosis on imaging and normal control brains. Fourteen brains of individuals who had been diagnosed as having severe leukoaraiosis and five non-leukoaraiosis control brains were studied. Arterial cross-sections were evaluated by length measurements with an image analysis device. Arterial wall thickness and the ratio of the outer and inner diameters of the vessel were measured. We measured a total of 108 vessels in the leukoaraiosis group and 95 vessels in the control group. The vessel walls of the leukoaraiosis patients were an average of 5.5 µm thicker than the walls of control vessels of the same inside diameter (P = 0.0000, 95% CI 3.01-8.08) and an average of 2.3 µm thicker than walls of control vessels of the same outside diameter (P = 0.016, 95% CI 0.48-4.17). Our data provide evidence that leukoaraiosis is associated with vessel wall thickening in an additive fashion and indicate that structural vascular abnormalities are associated with leukoaraiosis.


Subject(s)
Cerebral Arteries/pathology , Leukoaraiosis/pathology , Aged , Autopsy , Brain/pathology , Female , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Paraffin Embedding
6.
FEBS Lett ; 585(8): 1191-6, 2011 Apr 20.
Article in English | MEDLINE | ID: mdl-21439283

ABSTRACT

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.


Subject(s)
Cell Proliferation , Large Neutral Amino Acid-Transporter 1/genetics , Lung Neoplasms/genetics , MicroRNAs/genetics , Small Cell Lung Carcinoma/genetics , Blotting, Western , Cell Line, Tumor , G1 Phase/genetics , Gene Expression Regulation, Neoplastic , Humans , Immunohistochemistry , Large Neutral Amino Acid-Transporter 1/metabolism , Lung Neoplasms/metabolism , Lung Neoplasms/pathology , RNA Interference , Reverse Transcriptase Polymerase Chain Reaction , Small Cell Lung Carcinoma/metabolism , Small Cell Lung Carcinoma/pathology , Time Factors , Tissue Array Analysis
7.
Pediatr Nephrol ; 25(11): 2289-93, 2010 Nov.
Article in English | MEDLINE | ID: mdl-20686902

ABSTRACT

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.


Subject(s)
Contrast Media , Ultrasonography/methods , Urethra/diagnostic imaging , Urinary Bladder/diagnostic imaging , Urination/physiology , Vesico-Ureteral Reflux/diagnostic imaging , Child , Cross-Sectional Studies , Female , Fluoroscopy , Humans , Kidney/diagnostic imaging , Male , Phospholipids , Sensitivity and Specificity , Sulfur Hexafluoride , Ureter/diagnostic imaging
8.
Orv Hetil ; 143(15): 779-81, 2002 Apr 14.
Article in Hungarian | MEDLINE | ID: mdl-11979997

ABSTRACT

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.


Subject(s)
Nephritis/diagnosis , Abscess/diagnosis , Acute Disease , Diagnosis, Differential , Humans , Infant , Kidney Diseases/diagnosis , Kidney Neoplasms/diagnosis , Male , Nephritis/complications , Nephritis/diagnostic imaging , Nephritis/therapy , Seizures, Febrile/etiology , Ultrasonography
9.
Orv Hetil ; 143(1): 19-23, 2002 Jan 06.
Article in Hungarian | MEDLINE | ID: mdl-11816374

ABSTRACT

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.


Subject(s)
Kidney/pathology , Multicystic Dysplastic Kidney/diagnosis , Female , Humans , Infant , Male , Multicystic Dysplastic Kidney/diagnostic imaging , Multicystic Dysplastic Kidney/pathology , Retrospective Studies , Ultrasonography, Prenatal
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