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1.
J Clin Ultrasound ; 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39041195

RESUMEN

Neonatal infection with herpes simplex virus (HSV) is associated with significant morbidity, high mortality, and long-term neurological sequelae. We report the clinical case of an infant with HSV encephalitis, where the initial diagnosis was established based on cranial ultrasound (CUS) findings. These findings revealed localized, asymmetrically distributed hyperechoic areas in the parenchyma and signs of brain swelling. CUS dynamics on days 7 and 14 after the onset of clinical symptoms demonstrated multiple subcortical and perivascular zones of encephalomalacia in the right hemisphere, accompanied by ex vacuo ventricular dilatation. The cerebellum, left basal ganglia, and left hemisphere appeared to be less affected by the pathological process.

2.
Int Dent J ; 2024 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-38582718

RESUMEN

Oral cavity stem cells (OCSCs) have been the focus of intense scientific efforts due to their accessibility and stem cell properties. The present work aims to compare the different characteristics of 6 types of dental stem cells derived from the oral cavity: dental pulp stem cells (DPSC), stem cells from human exfoliated deciduous teeth (SHED), periodontal ligament stem cells (PDLSC), stem cells from the apical papilla (SCAP), bone marrow mesenchymal stem cells (BMSC), and gingival mesenchymal stem cells (GMSC). Using immunofluorescence and real-time polymerase chain reaction techniques, we analysed the cells for stem cell, differentiation, adhesion, and extracellular matrix markers; the ability to proliferate in vitro; and multilineage differentiation potential. Markers such as vimentin, CD44, alkaline phosphatase, CD146, CD271, CD49f, Oct 3/4, Sox 9, FGF7, nestin, and BMP4 showed significant differences in expression levels, highlighting the heterogeneity and unique characteristics of each cell type. At the same time, we confirmed that all cell types successfully differentiated into osteogenic, chondrogenic, or adipose lineages, with different readiness. In conclusion, our study reveals the distinct properties and potential applications of various dental-derived stem cells. These findings contribute to a deeper understanding of OCSCs and their significance in future clinical applications.

3.
Crit Care Res Pract ; 2024: 3623948, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38328675

RESUMEN

Background: KL-6 is a biomarker of interstitial lung injury and increases during repair. Aim: Our aim was to determine the predictive value of plasma KL-6 for the development of bronchopulmonary dysplasia (BPD) in preterm infants. Methods: Ninety-five extremely preterm infants (EPIs), born at <28 gestational age (GA), were divided into two main BPD groups as follows: the moderate/severe and the no/mild group. KL-6 was analyzed on days 7 and 14. Binary logistic regression analyses and ROC curve analyses were performed. Results: Infants <26 + 0 weeks' GA have higher mean KL-6 than infants >25 + 6 weeks' GA on 7 and 14 days (335 vs. 286 U/ml and 378 vs. 260 U/ml; p = 0.005 and 0.018, respectively). In the binary regression model at KL-6 day 7, three of the prognostic factors remained significant-mechanical ventilation OR: 10.38 (95% CI: 3.57-30.14), PDA OR: 6.39 (95% CI: 0.87-46.74), and KL-6 OR: 4.98 (95% CI: 1.54-16.08). The AUC was 0.86 with a sensitivity and specificity of 79% at a cutoff value ≥0.34. In the binary regression model at KL-6 day 14, six of the prognostic factors were significant-PDA OR: 23.34 (95% CI: 2.14-254.24), KL-6 OR: 13.59 (95% CI: 3.19-57.96), GA OR: 4.58 (95% CI: 1.16-18.06), mechanical ventilation OR: 4.45 (95% CI: 1.23-16.16), antenatal steroids OR: 0.19 (95% CI: 0.04-0.95), and gender (female OR: 0.30 (95% CI 0.08-1.12)). The AUC was 0.91, and the sensitivity and accuracy for a cutoff ≥0.37 were 89% and 85%, respectively. Conclusion: KL-6 could be a useful screening biomarker for early detection of infants at increased risk for developing BPD.

4.
Am J Reprod Immunol ; 90(6): e13800, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-38009060

RESUMEN

PROBLEM: Human implantation is a limiting factor for the success of natural and IVF reproduction since about 60% of pregnancy losses occur in the peri-implantation period. The in vitro modeling of human implantation challenges the researchers in accurate recreation of the complex in vivo differentiation and function of human blastocyst in the peri-implantation period. In previous studies, we constructed Sw71-spheroid models, which like human blastocyst undergo compactization, attaches to the endometrial epithelium, invade, and migrate. The aim of this study was to validate the trophoblast Sw71-spheroid model with primary trophoblast cells, derived from healthy women in early pregnancy. METHOD OF STUDY: We performed a direct comparison of Sw71-spheroid model with placenta-derived primary trophoblasts regarding their hybrid phenotype and HLA status, as well as the ability to generate spheroids able to migrate and invade. From the primary trophoblast cells, isolated by mild enzymatic treatment and Percoll gradient separation, were generated long-lived clones, which phenotype was assessed by FACS and immunocytochemistry. RESULTS: Our results showed that cultured primary trophoblasts have the EVT phenotype (Vim+/CK7+/HLA-C+/HLA-G+), like Sw71 cells. In both 3D culture settings, we obtained stable, round-shaped, multilayered spheroids. Although constructed from the same number of cells, the primary trophoblast spheroids were smaller. The primary trophoblast spheroids migrate successfully, and in term of invasion are equally potent but less stable as compared to Sw71 spheroids. CONCLUSIONS: The Sw71 cell line and cultured native trophoblast cells are interchangeable regarding their EVT phenotype (HLA-C+/HLA-G+/Vim+/CK7+). The blastocyst-like spheroids sourced by both types of cells differentiate in the same time frame and function similarly. We strongly advise the use of Sw71 spheroids as blastocyst surrogate for observation on trophectoderm differentiation and function during early human implantation.


Asunto(s)
Antígenos HLA-C , Trofoblastos , Embarazo , Femenino , Humanos , Trofoblastos/fisiología , Antígenos HLA-G/metabolismo , Implantación del Embrión/fisiología , Blastocisto
5.
J Immunol ; 210(12): 1899-1912, 2023 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-37144865

RESUMEN

An efficient immune defense against pathogens requires sufficient basal sensing mechanisms that can deliver prompt responses. Type I IFNs are protective against acute viral infections and respond to viral and bacterial infections, but their efficacy depends on constitutive basal activity that promotes the expression of downstream genes known as IFN-stimulated genes (ISGs). Type I IFNs and ISGs are constitutively produced at low quantities and yet exert profound effects essential for numerous physiological processes beyond antiviral and antimicrobial defense, including immunomodulation, cell cycle regulation, cell survival, and cell differentiation. Although the canonical response pathway for type I IFNs has been extensively characterized, less is known regarding the transcriptional regulation of constitutive ISG expression. Zika virus (ZIKV) infection is a major risk for human pregnancy complications and fetal development and depends on an appropriate IFN-ß response. However, it is poorly understood how ZIKV, despite an IFN-ß response, causes miscarriages. We have uncovered a mechanism for this function specifically in the context of the early antiviral response. Our results demonstrate that IFN regulatory factor (IRF9) is critical in the early response to ZIKV infection in human trophoblast. This function is contingent on IRF9 binding to Twist1. In this signaling cascade, Twist1 was not only a required partner that promotes IRF9 binding to the IFN-stimulated response element but also an upstream regulator that controls basal levels of IRF9. The absence of Twist1 renders human trophoblast cells susceptible to ZIKV infection.


Asunto(s)
Antiinfecciosos , Interferón Tipo I , Infección por el Virus Zika , Virus Zika , Humanos , Antivirales , Subunidad gamma del Factor 3 de Genes Estimulados por el Interferón
6.
Am J Reprod Immunol ; 89(1): e13650, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36331422

RESUMEN

PROBLEM: Long-lived mycobacterial L-forms (mL-forms) could be detected in the blood of BCG-vaccinated people. We have previously found mL-forms in term placentas and blood of neonates, delivered by healthy BCG-vaccinated mothers as first formal demonstration that BCG vaccination in the childhood of the woman could affect her placentobiome during pregnancy. Of note, the isolated mL-forms reverted to the cell-walled state of the parental BCG bacilli in vitro. METHOD OF STUDY: Here, we analyzed triple samples of blood, decidua and chorion taken from BCG-vaccinated pregnant women, directed to elective abortions (6-12 gestation weeks). The colonization of the primary samples with mycobacterial L-forms (mL-forms) was evaluated using microbiological isolation and subsequent identification by real time PCR and morphological characterization by light microscopy and SEM. The potential of early placenta-derived mL-forms to expand mycobacteria-reactive γδ T cells in vitro was assessed using FACS, whereas their immunogenicity in vivo was followed up after i.p. inoculation in rats. RESULTS: Our results showed two important findings: 1) viable filterable mL-forms varying in size, shape and proliferation modes are capable of colonizing the gestational tissues of BCG-vaccinated women early in pregnancy and 2) early placenta-derived mL-forms are not as immunogenic as walled M. bovis BCG bacilli, shown by lack of stimulation of mycobacteria-reactive γδ T cells co-cultured with early placenta-derived mL-forms and inefficient internalization of mL-forms by rat's peritoneal phagocytes in vivo. CONCLUSION: Although generally thought to be reduced in virulence, mL-forms could provide a reservoir, hidden from the immune system especially in an immune privileged niche like placenta.


Asunto(s)
Madres , Vacunación , Femenino , Humanos , Embarazo , Animales , Ratas , Reacción en Cadena en Tiempo Real de la Polimerasa
7.
Sci Rep ; 12(1): 10224, 2022 06 17.
Artículo en Inglés | MEDLINE | ID: mdl-35715452

RESUMEN

In healthy couples over half of the conceptions result in failed pregnancy and around 30% of them occur during implantation defining it as a rate-limiting step for the success of native and in vitro fertilization. The understanding of the factors regulating each step of implantation and immune recognition is critical for the pregnancy outcome. Creation of 3D-cell culture models, such as spheroids and organoids, is in the focus of placental tissue engineering in attempt to resemble the in vivo complexity of the maternal-fetal interface and to overcome the need of laboratory animals and human embryos. We constructed stable, reliable, and reproducible trophoblast Sw71 spheroids which are functional independently of the serum level in the culture media. These models resemble the hatched human blastocyst in size, shape and function and are useful for in vitro studies of the in vivo concealed human implantation. Since Sw71 spheroids produce HLA-C, the only classical MHC molecule indispensable for establishment of the immune tolerance and proper human implantation, they are applicable for the evaluation not only of implantation itself but also of maternal-trophoblasts immune interactions. In addition, Sw71-blastocyst-like spheroids are manipulable in low-volume platform, easy to monitor and analyze automatically under treatment with favorable/detrimental factors.


Asunto(s)
Antígenos HLA-C , Trofoblastos , Animales , Blastocisto , Implantación del Embrión/fisiología , Femenino , Humanos , Placenta , Embarazo
8.
J Clin Ultrasound ; 50(9): 1322-1327, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35353383

RESUMEN

PURPOSE: Lung ultrasound (LUS) is a widely used technique in neonates to diagnose a lot of acute diseases. However, its role in the diagnosis of chronic lung conditions is still to be evaluated. We aimed to describe the changes in ultrasound images as well as the appearance of lung consolidations (LC) in very low birth weight (VLBW) infants with and without bronchopulmonary dysplasia (BPD). METHODS: For a period of 2 years we prospectively examined 124 VLBW infants, divided into two main groups: below 28 gestational weeks with two subgroups-BPD (moderate and severe) and non-BPD, and 28-32 gestational weeks with two subgroups-BPD (moderate and severe) and non-BPD group. We performed weekly LUS until 36 weeks' postmenstrual age (PMA). On the seventh postnatal day, we calculated the LUS score as a semiquantitative score that represents the aeration (0-3) in three different areas (upper anterior, lower anterior, lateral) of each lung. RESULTS: We performed around 750 LUS exams. The BPD groups had LUS scores above 8 on the seventh day, p < 0.001. The number of LC was higher in the BPD groups 14 (3-45) than in the mild or non-BPD groups 2.5 (0-6), p < 0.001, and the difference was significant for the period between 1 week and 1 month after birth, p = 0.001. In the BPD group <28 weeks' PMA, LC appeared equally in the anterior, lateral, and posterior fields, while in the BPD group 28-32 weeks' PMA, LC are more typical for the anterior-lateral fields. CONCLUSION: Serial LUS exams and identification of LC could be early predictors of moderate and severe forms of BPD. LUS score >8 on the seventh postnatal day is an early predictor of severe BPD. LC in more lung fields are typical for the severe forms of the disease.


Asunto(s)
Displasia Broncopulmonar , Enfermedades del Prematuro , Recién Nacido , Lactante , Humanos , Displasia Broncopulmonar/diagnóstico por imagen , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Pulmón/diagnóstico por imagen , Edad Gestacional
9.
J Matern Fetal Neonatal Med ; 35(8): 1462-1468, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32403962

RESUMEN

OBJECTIVES: To analyze the recurrence rate of placenta-mediated diseases (PMDs) such as preeclampsia (PE) and/or intrauterine growth restriction (IUGR), intrauterine fetal death (IUFD), and placental abruption (PA) in high-risk patients on antithrombotic therapy (AT) because of a previous obstetrical history for such complications. METHODS: The study group (SG) included 150 patients to whom either 100 mg of aspirin or low-molecular weight heparin (LMWH) was administered due to a previous history of PMDs. The AT in the SG was started before 16 gestational weeks (g.w.). The patients in the first control group (CG-1) were 150 who also had a previous obstetrical history of PMDs, but did not receive antithrombotic therapy (AT) throughout their ongoing pregnancies. The second CG (CG-2) comprised 320 patients with a previous history of normally developing pregnancies and without AT throughout their ongoing pregnancies. RESULTS: The total percentage of PE in pregnant patients from the SG was 25.3% (38/150 patients), with 22.2% (10/45) in the SG on AT only with LDA (SG-LDA group), 25% (17/68) in the SG on AT only with LMWHs (SG-LMWH group) and 29.7% (11/37) in the SG on combined AT with LDA and LMWHs (SG-LDA + LMWH group), as opposed to 18.67% (28/150) in CG-1 and 0.62% (2/320) in CG-2. The recurrent severe PE/total PE ratio in the SG was 44.7% (17/38), with 30% (3/10) in the SG-LDA group, 47% (8/17) in the SG-LMWH group and 54% (6/11) in the SG-LDA + LMWH group, against 75% (21/28) in CG-1. There were no cases with severe PE in CG-2. All cases with recurrent IUGR from the SG were equal to 13.3% (20/150), with 13.3% (6/45) in the SG-LDA group, 11.76% (8/68) in the SG-LMWH group and 16.2% (6/37) in the SG-LDA + LMWH group, as compared to 30% (45/150) in CG-1 and 5% (16/320) in CG-2. As a whole, the overall recurrence rate of PMDs in the SG was 38.67% (58/150), with 35.56% (16/45) in the SG-LDA group, 36.76% (25/68) in the SG-LMWH group and 45.9% (17/37) in the SG-LDA + LMWH group, as compared to 50.67% (76/150) in CG-1 and 5.94% (19/320) in CG-2. CONCLUSION: AT had a partial beneficial effect on the prophylaxis of recurrent PMDs. On the one hand, AT led to a significant reduction in the recurrent severe PE/total PE ratio, as well as in the total PMDs' recurrence rate in the SG as compared to the one in CG-1. On the other hand, the percentage of recurrent PMDs still remained significantly higher in the SG as compared to CG-2. Pregnant patients with previous PMDs still need close surveillance in subsequent pregnancies as they remain at a high risk for complications.


Asunto(s)
Fibrinolíticos , Preeclampsia , Aspirina/uso terapéutico , Femenino , Fibrinolíticos/uso terapéutico , Heparina de Bajo-Peso-Molecular/uso terapéutico , Humanos , Placenta , Preeclampsia/tratamiento farmacológico , Preeclampsia/epidemiología , Preeclampsia/prevención & control , Embarazo
10.
Int J Mol Sci ; 20(3)2019 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-30764544

RESUMEN

Pregnancy is a state where high and stage-dependent plasticity of the maternal immune system is necessary in order to equilibrate between immunosuppression of harmful responses towards the fetus and ability to fight infections. TCR γδ cells have been implicated in the responses in infectious diseases, in the regulation of immune responses, and in tissue homeostasis and repair. The variety of functions makes γδ T cells a particularly interesting population during pregnancy. In this study, we investigated the proportion, phenotype and TCR γ and δ repertoires of γδ T cells at the maternal⁻fetal interface and in the blood of pregnant women using FACS, immunohistochemistry and spectratyping. We found an enrichment of activated and terminally differentiated pro-inflammatory γδ T-cell effectors with specific location in the human decidua during early pregnancy, while no significant changes in their counterparts in the blood of pregnant women were observed. Our spectratyping data revealed polyclonal CDR3 repertoires of the δ1, δ2 and δ3 chains and γ2, γ3, γ4 and γ5 chains and oligoclonal and highly restricted CDR3γ9 repertoire of γδ T cells in the decidua and blood of pregnant women. Early pregnancy induces recruitment of differentiated pro-inflammatory γδ T-cell effectors with diverse TCR repertoires at the maternal⁻fetal interface.


Asunto(s)
Decidua/inmunología , Feto/inmunología , Receptores de Antígenos de Linfocitos T gamma-delta/inmunología , Linfocitos T/inmunología , Femenino , Humanos , Tolerancia Inmunológica , Activación de Linfocitos , Embarazo , Receptores de Antígenos de Linfocitos T gamma-delta/análisis , Receptores de Antígenos de Linfocitos T gamma-delta/sangre
11.
Open Access Maced J Med Sci ; 6(6): 1046-1051, 2018 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-29983799

RESUMEN

INTRODUCTION: Colorectal liver metastases have a poor prognosis, and only 2% have an average 5-year survival if left untreated. Despite radical resection, the average five-year survival is between 25% and 44%. AIM: To explore the experience of the Clinic in the treatment of colorectal liver metastases, comparing it with data from the literature and based on the comparison to determine the influence of the type and extensity of resection survival after radical surgical treatment of patients. METHODS: This is a retrospective study. The study comprised the period between 01.01.2006 to 31.12.2015. It included a total of 239 cases, of whom: 179 patients underwent radical interventions, 5 palliative and 55 patients underwent explorative interventions due to liver metastases. RESULTS: Radical resection of liver metastases has the impact of the patient survival, and the survival is the smallest in the patients with left hemihepatectomy and the longest in the patients with bisegmentectomy. But no specific technique and the number of resected segments influenced the survival of patients with colorectal liver metastases. CONCLUSION: In patients with colorectal liver metastases only resection has potentially curative character. The type and amount of liver resection has no influence of the survival.

12.
Eur J Med Genet ; 60(6): 321-325, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28392475

RESUMEN

Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function of the cilia, which assigns a large proportion of the renal cystic diseases in the ciliopathies. Another group of genes responsible for cystic kidneys encodes transcription factors with crucial role during organogenesis. We describe here a systematic approach for identifying the genetic cause(s) of an unusually severe form of renal cystic disease in a family with multiple affected siblings. High throughput mutations screening of the parents and one of the children was applied for identifying the genetic causes of the disease. The affected child was found to have inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4. The possibility for epistatic interaction of the NPHP mutations as well as the modifying effect of other inherited genetic variants is discussed.


Asunto(s)
Enfermedades Renales Quísticas/genética , Cinesinas/genética , Proteínas/genética , Adulto , Niño , Epistasis Genética , Femenino , Genes Modificadores , Humanos , Recién Nacido , Enfermedades Renales Quísticas/diagnóstico , Masculino , Mutación , Linaje
13.
World J Surg Oncol ; 14(1): 287, 2016 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-27846844

RESUMEN

BACKGROUND: Although gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, they comprise less than 1% of all gastrointestinal tumors. Neuroendocrine tumors (NET) of the gastro-enteropancreatic system are also rare, representing about 2% of all gastrointestinal neoplasms. Pancreatic localization of NET is extremely uncommon-these tumors are only 1-5% of all pancreatic cancers. CASE PRESENTATION: We describe an unusual case with triple tumor localization-a gastric tumor, a formation in the pancreas, which involves the retroperitoneal space, and a uterine leiomyoma. The exact diagnosis was confirmed with immunohistochemical study after surgical treatment of the patient. Distal pancreatic resection, splenectomy, partial gastrectomy, omentectomy, and hysterectomy were performed. The histological examination proved an epithelioid type of gastric GIST. Immunostaining showed focal positive expression of c-kit and no mitotic figures per 50 HPF. Histology of the pancreatic and retroperitoneal formation proved a well-differentiated NET with origin from the islets of Langerhans. The immunohistochemical study demonstrated co-expression of chromogranin A and synaptophysin. CONCLUSIONS: This is the fourth case published so far of a patient with synchronous pancreatic NET and gastric GIST. The main objective of the study is to present a unique case because we have not found any reports for coexistence of the described three types of neoplasm, as in our patient, and we hope that it will be valuable in the future investigations about the genesis, diagnosis, and treatment of these types of tumors.


Asunto(s)
Tumores del Estroma Gastrointestinal/cirugía , Neoplasias Intestinales/cirugía , Leiomioma/cirugía , Neoplasias Primarias Múltiples/cirugía , Tumores Neuroendocrinos/cirugía , Neoplasias Pancreáticas/cirugía , Esplenectomía , Neoplasias Gástricas/cirugía , Neoplasias Uterinas/cirugía , Biomarcadores de Tumor/metabolismo , Femenino , Gastrectomía , Tumores del Estroma Gastrointestinal/diagnóstico por imagen , Tumores del Estroma Gastrointestinal/metabolismo , Tumores del Estroma Gastrointestinal/patología , Humanos , Histerectomía , Inmunohistoquímica , Neoplasias Intestinales/diagnóstico por imagen , Neoplasias Intestinales/metabolismo , Neoplasias Intestinales/patología , Leiomioma/diagnóstico por imagen , Leiomioma/metabolismo , Leiomioma/patología , Persona de Mediana Edad , Neoplasias Primarias Múltiples/diagnóstico por imagen , Neoplasias Primarias Múltiples/metabolismo , Neoplasias Primarias Múltiples/patología , Tumores Neuroendocrinos/diagnóstico por imagen , Tumores Neuroendocrinos/metabolismo , Tumores Neuroendocrinos/patología , Epiplón/cirugía , Páncreas/cirugía , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patología , Neoplasias Gástricas/diagnóstico por imagen , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patología , Tomografía Computarizada por Rayos X , Ultrasonografía , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/patología
14.
Case Rep Obstet Gynecol ; 2016: 1462818, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27642530

RESUMEN

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.

15.
BMC Surg ; 16(1): 37, 2016 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-27255154

RESUMEN

BACKGROUND: IgG4-related disease (IgG4-RD) is a newly recognized disorder, characterized by massive IgG4+ lymphocyte and plasma cell infiltration, storiform fibrosis, causing enlargement, nodules or thickening of the various organs, simultaneously or metachronously. Involvement of the gastrointestinal tract is very rare and can be presented as a diffuse wall thickening or polyp or mass-like lesion. Up to now, there have been reported only a few cases of isolated gastric IgG4-RD. CASE PRESENTATION: We present an unusual case of IgG4-RD of the stomach with involvement of the regional lymph nodes, clinically manifested as a gastric cancer with related pyloric stenosis. The patient underwent distal gastrectomy, omentectomy and lymph node dissection. The postoperative serum IgG4 level was increased. The diagnosis was confirmed by immunohistochemical study. CONCLUSIONS: In the most of the reported cases there was not sufficient data about the regional lymph nodal status, although the majority of the patients had been operated with presumptive diagnosis of gastric neoplasm. Our case is rare and valuable because it presents a gastric IgG4-related lesion larger than all previously reported in literature, and IgG4-related lymphadenopathy, confirmed histologically, which contributes to better knowledge of the disease.


Asunto(s)
Enfermedades Autoinmunes/inmunología , Inmunoglobulina G/inmunología , Ganglios Linfáticos/patología , Linfadenopatía/inmunología , Enfermedades Raras , Gastropatías/inmunología , Enfermedades Autoinmunes/diagnóstico , Biopsia , Femenino , Humanos , Linfadenopatía/diagnóstico , Persona de Mediana Edad , Gastropatías/diagnóstico
17.
Int J Surg Case Rep ; 14: 117-20, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26263450

RESUMEN

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Rarely, GISTs can be located in mesentery, retroperitoneal space, omentum or pancreas. In these cases, the neoplasm is defined as "extra-gastrointestinal stromal tumors" (EGISTs). PRESENTATION OF CASE: We reported a case of a 63-year-old male patient diagnosed by computer tomography with large intraabdominal tumor with vague origin, postoperatively determined as an EGIST. The diagnosis was confirmed by immunohistochemical study. The patient had multiple, subcutaneous, painless lipomas localized in the arms, forearms, thighs, abdomen and thorax. Because of the family history and the clinical presentation the disease was determined as familial multiple lipomatosis (FML). We performed radical tumor resection with distal pancreatectomy and splenectomy, and abdominoplasty, removing redundant skin and underlying subcutaneous fat tissue with multiple lipomas. DISCUSSION: FML is a rare hereditary benign disease. On the other hand, only few cases with familial GIST have been reported. In cases with extensive abdominal involvement, the primary origin of EGIST may be impossible to determine so the differential diagnosis is very difficult. CONCLUSION: Although we could not prove correlation between the observed diseases, they are extremely rare and their combination is unusual which makes the presented case valuable and interesting.

18.
Int J Surg Case Rep ; 12: 140-2, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26073916

RESUMEN

INTRODUCTION: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic disorder of unclear etiology. Lymphadenopathy commonly affects the lymph nodes of the neck and the head, but extranodal involvement has been observed too. PRESENTATION OF CASE: We describe an unusual case of RDD with involvement of the gallbladder, liver and cystic lymph node, clinically manifested as an exacerbated cholecystitis. The patient underwent a cholecystectomy with atypical liver resection because the finding was macroscopically suspected of gallbladder cancer. The diagnosis of RDD was confirmed by immunohistochemical study. DISCUSSION: Histological features of RDD include histiocytic proliferation, emperipolesis and positive immunostaining for S-100 protein and typically negative for CD1a. Gastrointestinal localization of RDD, especially in the liver and pancreas, is extremely rare. Typically, the liver is affected as a part of systematic spread of RDD. We have not found reports for involvement of the gallbladder. CONCLUSION: The presented case is valuable due to its rarity and difficulty in differential diagnosis.

19.
Obstet Med ; 5(2): 71-7, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27579139

RESUMEN

BACKGROUND: To compare current guidelines for diagnosis of gestational diabetes mellitus (GDM) and to identify the ones that are the most relevant for application among pregnant Bulgarian population. METHODS: A total of 800 pregnant women at high risk for GDM underwent 75 g oral glucose tolerance test between 24 and 28 weeks of gestation as antenatal screening. The results were interpreted and classified according to the guidelines of the International Association of Diabetes and Pregnancy Study Groups (IADPSG), American Diabetes Association (ADA), Australasian Diabetes in Pregnancy Society, Canadian Diabetes Association, European Association for the Study of Diabetes, New Zealand Society for the study of Diabetes and World Health Organization. RESULTS: The application of different diagnostic criteria resulted in prevalences of GDM between 10.8% and 31.6%. Using any two sets of criteria, women who were classified differently varied between 0.1% and 21.1% (P < 0.001).The IADPSG criteria were the most inclusive criteria and resulted in the highest prevalence of GDM. There was a significant difference in the major metabolic parameters between GDM and control groups, regardless of which of the diagnostic criteria applied. GDM diagnosed according to all criteria resulted in increased proportion of delivery by caesarean section (CS). However, only ADA and IADPSG criteria identified both increased macrosomia (odds ratio, 2.36; 2.29) and CS rate. CONCLUSION: The need for GDM screening is indisputable. In our view, the new IADPSG guidelines offer a unique opportunity for a unified national and global approach to GDM.

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