Read by QxMD icon Read


Cornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, Saskia Biskup, Luigi Raio
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
February 2018: Clinical Case Reports
C Maridet, F Morice-Picard, A Gros, L Crivelli, A de la Fouchardière, B Vergier, A Taïeb
No abstract text is available yet for this article.
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Marta Biderman Waberski, Marjorie Lindhurst, Kim M Keppler-Noreuil, Julie C Sapp, Laura Baker, Karen W Gripp, Denise M Adams, Leslie G Biesecker
PurposeWe set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesions to Wilms tumor. Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies.MethodsDigital droplet polymerase chain reaction (ddPCR) was used to analyze tissues including urine, saliva, buccal cells, and blood, from eight patients with PROS...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis. METHOD: Retrospective review of 3 cases of SGBS type I in a single tertiary care centre...
January 2018: Prenatal Diagnosis
Jocelyn Charlton, Sabine Irtan, Christophe Bergeron, Kathy Pritchard-Jones
Wilms tumour (WT) is the most common paediatric kidney cancer and affects approximately one in 10 000 children. The tumour is associated with undifferentiated embryonic lesions called nephrogenic rests (NRs) or, when diffuse, nephroblastomatosis. WT or NRs can occur in both kidneys, termed bilateral disease, found in only 5-8% of cases. Management of bilateral WT presents a major clinical challenge in terms of maximising survival, preserving renal function and understanding underlying genetic risk. In this review, we compile clinical data from 545 published cases of bilateral WT and discuss recent progress in understanding the molecular basis of bilateral WT and its associated precursor NRs in the context of the latest radiological, surgical and epidemiological features...
July 18, 2017: Expert Reviews in Molecular Medicine
Gordan M Vujanić, John R Apps, Veronica Moroz, Federica Ceroni, Richard D Williams, Neil J Sebire, Kathy Pritchard-Jones
BACKGROUND: Nephrogenic rests (NRs) are abnormally persistent foci of embryonal cells, thought to be the precursor lesion of Wilms tumors (WTs). To date, their presence has not been systematically examined in WTs treated with preoperative chemotherapy. METHODS: A systematic analysis of the data on NRs in WTs treated with preoperative chemotherapy obtained from the UK cohort of the International Society of Pediatric Oncology (SIOP) WT 2001 Trial. The study was based on central pathology review of full sets of slides from pathological specimens, with a median of 28 slides reviewed per case...
November 2017: Pediatric Blood & Cancer
Nadine Bachmann, Roman Crazzolara, Florian Bohne, Dieter Kotzot, Kathrin Maurer, Thorsten Enklaar, Dirk Prawitt, Carsten Bergmann
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an early-onset overgrowth disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of imprinted genes on chromosome 11p15.5; however, the driving forces in the development of tumors are not fully understood. PROCEDURE: We report on a female patient presenting with macrosomia, macroglossia, organomegaly and extensive bilateral nephroblastomatosis. Adjuvant chemotherapy was initiated; however, the patient developed hepatoblastoma and Wilms tumor at 5 and 12 months of age, respectively...
March 2017: Pediatric Blood & Cancer
Aurélien Scalabre, Christophe Bergeron, Frederic Brioude, Linda Dainese, Claire Cropet, Aurore Coulomb L'hermine, Claudia Pasqualini, Frederic Auber, Arnauld Verschuur, Gudrun Schleiermacher, Yves Le Bouc, Georges Audry, Sabine Irtan
BACKGROUND: Patients with Beckwith-Wiedemann syndrome (BWS) or isolated hemihypertrophy (HH) treated for a Wilms tumor (WT) carry an increased risk of developing metachronous lesion. There are no guidelines on precise indications for nephron sparing surgery (NSS) in unilateral WT (UWT). The objective of this retrospective study was to delineate the indications of NSS in patients with BWS/HH treated for WT and to evaluate their outcome. PROCEDURE: All cases of BWS/HH treated for a WT according to SIOP protocols from 1980 to 2013 were reviewed...
September 2016: Pediatric Blood & Cancer
Karen W Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A Napoli, Gregory C Griffin, Mihir Thacker, Rachel G Knox, Graeme R Clark, Victoria E R Parker, Robert Semple, Ghayda Mirzaa, Kim M Keppler-Noreuil
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith-Wiedemann syndrome, mosaic chromosome or genomic abnormalities, or somatic point mutations. Somatic missense mutations affecting the PI3K-AKT-MTOR pathway result in segmental overgrowth and are present in numerous benign and malignant tumors. Here, we report a fourth patient with asymmetric overgrowth due to a somatic PIK3CA mutation who had nephroblastomatosis or Wilms tumor...
October 2016: American Journal of Medical Genetics. Part A
Poonam Thakore, Salim Aljabari, Curtis Turner, Tetyana L Vasylyeva
Acute lymphoblastic leukemia (ALL) is the most common malignancy in the pediatric patient population. However, renal involvement as the primary manifestation of ALL is rare. We report a case of a 4-year-old boy with bilateral renal lesions resembling nephroblastic rests as the first finding of early stage ALL preceding hematological changes and subsequent classic clinical findings by two weeks. These renal hypodensities completely resolved after one week of induction chemotherapy. This case demonstrates that renal involvement can be the only initial presenting finding of leukemia...
2015: Case Reports in Pediatrics
Hong-Chuan Niu, Wei-Ping Zhang, Ning Sun, Le-Jian He, Yun Peng
No abstract text is available yet for this article.
September 20, 2015: Chinese Medical Journal
Maria Matilde Rodriguez, Mayrin Correa-Medina, Elizabeth E Whittington
Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features...
June 2015: Fetal and Pediatric Pathology
Yi Wu, Xueming Zhu, Xingdong Wang, Hangzhou Wang, Xu Cao, Jian Wang
BACKGROUND: Extrarenal nephroblastomatosis is a rare entity which occurs in retroperitoneum and inguinal region predominantly. Here we report two cases of primary extrarenal nephroblastomatosis of Han Chinese in Asian in unusual locations, one is located in testis and paratestis, and the other is paraspinal cord. CASE PRESENTATION: Patient 1 was a 19-month-old boy with a hard and nodular mass adherent to the left testis in inguinal region. Patient 2 was a 9-month-old boy with a 1 × 0...
2014: BMC Pediatrics
S Stabouli, N Printza, J Dotis, A Matis, D Koliouskas, N Gombakis, F Papachristou
Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history of NB seems to present significant variation as some lesions may regress spontaneously, while others may grow and expand or relapse and develop into WT later in childhood. Although, most investigators suggest adjutant chemotherapy, the effect and duration of treatment are not well established. Children with diffuse perilobar NB, Beckwith-Wiedemann syndrome, and hemihypertrophy seem to particularly benefit from treatment...
2014: Case Reports in Pediatrics
R Furtwängler, M Schmolze, S Gräber, I Leuschner, G Amann, J-P Schenk, F Niggli, L Kager, D von Schweinitz, N Graf
BACKGROUND: Treatment of stage V nephroblastoma is less established and more complex than in unilateral nephroblastoma. METHODS: Retrospective analysis of 121 consecutive patients with stage V nephroblastoma registered from January 1989 to May 2005. Registration, prospective data collection and treatment were carried out within the framework of 3 consecutive SIOP/GPOH-nephroblastoma-trials. RESULTS: 19 patients had metastasis and 29 syndromes at diagnosis...
May 2014: Klinische Pädiatrie
Lois J Starr, Jennifer N Sanmann, Ann Haskins Olney, Melissa Wandoloski, Warren G Sanger, Donald W Coulter
Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55 Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications...
April 2014: American Journal of Medical Genetics. Part A
Xiao-li Hu, Lan-yun Song, Lin-sheng Zhao, Pei-ru Ning, Li Zhao
No abstract text is available yet for this article.
December 2013: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Alice Fievet, Marc-Antoine Belaud-Rotureau, Frédéric Dugay, Caroline Abadie, Catherine Henry, Sophie Taque, Joris Andrieux, Serge Guyetant, Michel Robert, Christèle Dubourg, Christine Edan, Nathalie Rioux-Leclercq, Sylvie Odent, Sylvie Jaillard
This report concerns a 3-year-old girl with prenatal bilateral nephroblastomatosis and a family history of nephroblastoma. This girl had a chromosome 8 pericentric inversion inherited from her father. This inversion was observed in healthy individuals of the family and was absent in other individuals suffering from embryonic kidney tumor. We then supposed that another genetic anomaly predisposed her to tumorogenesis. Additional cryptic imbalances are reported in cases of apparently balanced chromosomal rearrangements with an abnormal phenotype...
December 2013: European Journal of Medical Genetics
H Kurosawa, H Kurumada, E Haga, K Sugita, M Eguchi, T Furukawa, Y Kurosu, T Fujiwara, J Hata
An 8-year-old boy with vertebral and epidural metastases was diagnosed with Wilms' tumor associated with perilobar nephroblastomatosis (NB) based on histologic examination. During combined chemotherapy with vincristine, actinomycin D, doxorubicin, and cyclophosphamide (NWTS-3 J protocol), a rapid increase in tumor size was observed. The treatment was replaced with etoposide and carboplatin (JET regimen). A transient response was sustained for 5 months during this chemotherapy. However, regrowth of the tumor was observed and the patient died 11 months after the initial chemotherapy...
March 1996: Pediatric Surgery International
Sharon G Cox, Tracy Kilborn, Komala Pillay, Alan Davidson, Alastair J W Millar
Magnetic resonance imaging (MRI) has become the principal tool for Wilms tumor (WT) assessment and follow-up. MRI and histopathologic findings were not congruent in 2 of the q30 scanned patients with renal masses (2008 to 2011). Three lesions thought to be WT on MRI were found to be a sclerotic nephrogenic rest (1), cystic renal dysplasia (1), and focal chronic pyelonephritis (1). The "typical" features suggesting nephroblastomatosis and WT on MRI are unreliable and such lesions require biopsy for histopathologic diagnosis, especially when nephron-sparing surgery is necessary to preserve renal function...
March 2014: Journal of Pediatric Hematology/oncology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"