ABSTRACT
Optical genome mapping (OGM) appears as a new tool for matching standard cytogenetic methods (karyotype and microarray) into a single assay. The chromosomal region 11p15.5 harbours two differentially methylated regions, the imprinting centre regions 1 and 2 (ICR1, ICR2). Disturbances in both regions alter human growth and are associated with two imprinting disorders, Beckwith-Wiedemann (BWS) and Silver-Russell syndromes. Herein, we present a prenatal case with a triplication in 11p15.5, including the H19/IGF2 imprinted region, detected by microarray and OGM. A 30-year-old pregnant woman of 17 weeks of gestation was referred for prenatal karyotype and microarray study because of increased nuchal translucency, short femur, megabladder, hyperechogenic bowel, and renal ectasia. Microarray, OGM, and MS-MLPA were performed, and a tandem cis-triplication in 11p15.5 and hypermethylation of the ICR1 region, compatible with BWS was detected. OGM, with its power to detect all classes of structural variants, including copy number variants, at a higher resolution than traditional cytogenetic methods can play a significant role in prenatal care and management as a next-generation cytogenomic tool. This study further supports the hypotheses that the amplification/duplication-triplication of the H19/IGF2 region could be related to BWS if it is of paternal origin.
Subject(s)
Beckwith-Wiedemann Syndrome , Silver-Russell Syndrome , Pregnancy , Female , Humans , Adult , Genomic Imprinting , Beckwith-Wiedemann Syndrome/genetics , Beckwith-Wiedemann Syndrome/diagnosis , DNA Methylation/genetics , Silver-Russell Syndrome/genetics , Chromosome Mapping , Insulin-Like Growth Factor II/geneticsABSTRACT
OBJECTIVE: To assess the metastasic prostatecancer in the differenctial diagnosis of mediastinal masses. METHODS: To report a case. RESULTS: We present the case of a 78-year-old male patientwith a diagnosis of prostate cancer with a mediastinalmass compatible with prostate metastasis. CONCLUSION: Mediastinum is a very rare site for prostatecancer metastasis, but it must be considered in thedifferential diagnosis of mediastinal masses. Treatment isthe usual for metastatic prostate cancer.
OBJETIVO: Considerar el cáncer de próstatametastásico en el diagnóstico diferencial de masas mediastínicas. MÉTODOS: Presentación de un caso clínico. RESULTADOS: Se presenta el caso de un paciente varónde 78 años con diagnóstico de cáncer de próstata en elque se objetiva una masa mediastínica compatible conmetástasis prostática. CONCLUSIÓN: El mediastino es un lugar muy infrecuentede metástasis de cáncer de próstata, pero hay que considerarloen el diagnóstico diferencial de masas mediastínicas.El tratamiento es el estándar del cáncer de próstatametastásico.
Subject(s)
Mediastinum , Prostatic Neoplasms , Aged , Humans , MaleABSTRACT
Objetivo: Considerar el cáncer de próstatametastásico en el diagnóstico diferencial de masas mediastínicas. Métodos: Presentación de un caso clínico.Resultados: Se presenta el caso de un paciente varónde 78 años con diagnóstico de cáncer de próstata en elque se objetiva una masa mediastínica compatible conmetástasis prostática. Conclusion: El mediastino es un lugar muy infrecuentede metástasis de cáncer de próstata, pero hay que considerarlo en el diagnóstico diferencial de masas mediastínicas. El tratamiento es el estándar del cáncer de próstatametastásico.(AU)
Objetive: To assess the metastasic prostatecancer in the differenctial diagnosis of mediastinal masses. Methods: To report a case. Results: We present the case of a 78-year-old male patient with a diagnosis of prostate cancer with a mediastinalmass compatible with prostate metastasis. Conclusion: Mediastinum is a very rare site for prostate cancer metastasis, but it must be considered in thedifferential diagnosis of mediastinal masses. Treatment isthe usual for metastatic prostate cancer.(AU)
Subject(s)
Humans , Male , Aged , Inpatients , Physical Examination , Neoplasm Metastasis , Prostatic Neoplasms , Mediastinum , Diagnosis , Drug TherapyABSTRACT
The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.
Subject(s)
Chromosome Breakpoints , Chromothripsis , Gene Rearrangement , Genome, Human , Prenatal Diagnosis/methods , Abortion, Eugenic , Adult , Comparative Genomic Hybridization , DNA Copy Number Variations , Female , Fetus , Genetic Counseling/ethics , High-Throughput Nucleotide Sequencing , Humans , Karyotyping/methods , Male , PregnancyABSTRACT
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1 , Corpus Callosum/pathology , Microcephaly/genetics , Seizures/genetics , Child , Humans , MaleABSTRACT
Although the laparoscopic ureteral reimplantation (LUR) has a history of over 20 years, its presence in the literature is relatively sparse, almost always in the form of small case series with low statistical power, which has prevented consistent results. It has proven to be a safe and effective technique, improving the safety profile and perioperative complications compared to open ureteral reimplantation (OUR). The few long-term results suggest a similar success rate between the open and laparoscopic approaches. Although we do not found in the literature a strong evidence of the benefits of anti-reflux reimplantation techniques in adults, most of the published series include these procedures. Ureteral reimplantation is considered the treatment of choice in ureteral injuries below the iliac vessels. This is its main indication now. Intraoperative recognition of the injury and immediate LUR avoid other complications, but most of ureteral injuries are diagnosed in the early postoperative period. Although the classical recommendations advise urinary diversion and delayed treatment, the immediate approach is feasible, and indeed seems to improve results in complications, stay and long-term renal function. In situations of postoperative peritonitis secondary to a ureteral fistula, immediate LUR offers specific advantages, at least theoretically, for the protective effect of pneumoperitoneum in abdominal sepsis.
Subject(s)
Laparoscopy , Ureter/surgery , Ureteral Diseases/surgery , Humans , Iatrogenic Disease , Intraoperative Complications/surgery , Laparoscopy/methods , Time Factors , Treatment Outcome , Ureter/injuries , Urologic Surgical Procedures/methodsABSTRACT
Aunque el reimplante ureteral laparoscópico (RUL) tiene una trayectoria de más de 20 años, su presencia en la literatura es relativamente escasa, casi siempre en forma de pequeñas series de casos con poca potencia estadística, lo que ha impedido obtener resultados consistentes. Ha demostrado ser una técnica segura y efectiva, mejorando el perfil de seguridad y complicaciones perioperatorias con respecto al reimplante ureteral abierto (RUA). Los escasos resultados a largo plazo sugieren una tasa de éxito similar entre los abordajes abierto y laparoscópico. Aunque no se han encontrado en la literatura evidencias firmes de las ventajas de las técnicas anti-reflujo en adultos, la mayor parte de las series publicadas incluyen estas técnicas. El reimplante ureteral se considera el tratamiento de elección en las lesiones ureterales por debajo del cruce iliaco. Ésta es su principal indicación actualmente. El reconocimiento intraoperatorio de la lesión y el RUL inmediato evitan otras complicaciones, pero la mayoría de las lesiones ureterales se diagnostican en el postoperatorio temprano. Aunque las recomendaciones clásicas aconsejan la derivación urinaria y tratamiento diferido, el abordaje inmediato es factible, y de hecho parece mejorar los resultados en complicaciones, estancia y función renal a largo plazo. En las situaciones postoperatorias de peritonitis secundarias a una fístula ureteral, el RUL inmediato ofrece ventajas específicas, al menos teóricamente, por el efecto protector del neumoperitoneo en las sepsis de origen abdominal
Although the laparoscopic ureteral reimplantation (LUR) has a history of over 20 years, its presence in the literature is relatively sparse, almost always in the form of small case series with low statistical power, which has prevented consistent results. It has proven to be a safe and effective technique, improving the safety profile and perioperative complications compared to open ureteral reimplantation (OUR). The few long-term results suggest a similar success rate between the open and laparoscopic approaches. Although we do not found in the literature a strong evidence of the benefits of anti-reflux reimplantation techniques in adults, most of the published series include these procedures. Ureteral reimplantation is considered the treatment of choice in ureteral injuries below the iliac vessels. This is its main indication now. Intraoperative recognition of the injury and immediate LUR avoid other complications, but most of ureteral injuries are diagnosed in the early postoperative period. Although the classical recommendations advise urinary diversion and delayed treatment, the immediate approach is feasible, and indeed seems to improve results in complications, stay and long-term renal function. In situations of postoperative peritonitis secondary to a ureteral fistula, immediate LUR offers specific advantages, at least theoretically, for the protective effect of pneumoperitoneum in abdominal sepsis
Subject(s)
Humans , Replantation/methods , Ureteral Obstruction/surgery , Laparoscopy/methods , Urinary Fistula/surgery , Iatrogenic Disease , Kidney Transplantation , Postoperative Complications/surgeryABSTRACT
AIM: To structure the rate of intraoperative complications that requires an intraoperative or perioperative resolution. METHODS: We perform a literature review of Medline database. The research was focused on intraoperative laparoscopic procedures inside the field of urological oncology. General rate of perioperative complications in laparoscopic urologic surgery is described to be around 12.4%. Most of the manuscripts published do not make differences between pure intraoperative, intraoperative with postoperative consequences and postoperative complications. RESULTS: We expose a narrative statement of complications, possible solutions and possible preventions for most frequent retroperitoneal and pelvic laparoscopic surgery. We expose the results with the following order: retroperitoneal laparoscopic surgery (radical nephrectomy, partial nephrectomy, nephroureterectomy and adrenalectomy) and pelvic laparoscopic surgery (radical prostatectomy and radical cystectomy). CONCLUSION: Intraoperative complications vary from different series. More scheduled reports should be done in order to better understand the real rates of complications.
