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Yutaro Sasaki, Masayuki Takahashi, Mitsuki Nishiyama, Saki Kobayashi, Yoshiteru Ueno, Junya Furukawa, Kenji Shimada
INTRODUCTION: We report a case of megaureter in a functional solitary kidney in which surgery was performed after bladder capacity was increased by home bladder cycling. CASE PRESENTATION: A 6-day-old girl with a left megaureter, a right multicystic dysplastic kidney, and bladder hypoplasia underwent percutaneous left nephrostomy for obstructive renal failure. At 8 months, home bladder cycling was initiated to increase bladder capacity before the planned ureterocystoneostomy...
May 2024: IJU case reports
#2
JOURNAL ARTICLE
H Yang, H F Feng, W Lu
Objective: To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome . Methods: The temporal CT findings and clinical features observations of 13 patients with Branchio-Oto-Renal Syndrome (BORS) or Branchio-Oto Syndrome(BOS) confirmed by genetic testing were retrospectively analyzed. There were 8 males and 5 females, aged from 1 to 39 years, with a median age of 9 years, in which 3 pairs (6 cases) were parent-child relationship. Results: All of 13 cases had hearing loss and preauricular fistula, 11 cases accompanied by 2nd branchial fistulas...
April 7, 2024: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
#3
JOURNAL ARTICLE
Dawn B Lammert, Jena L Miller, Meredith A Atkinson, Lisa R Sun
The Renal Anhydramnios Fetal Therapy (RAFT) trial is a study of serial amnioinfusions to prevent lethal neonatal pulmonary hypoplasia from early renal anhydramnios. Infant neurologic outcomes were not originally evaluated. We describe the high incidence of stroke observed among infants in the treatment arm of the trial at our center.
April 12, 2024: Journal of Pediatrics
#4
JOURNAL ARTICLE
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment...
April 7, 2024: Nephrology
#5
JOURNAL ARTICLE
Laura Zarate-Pinzón, Gabriela Flórez-Esparza, Camilo Andrés Rodríguez-Rodríguez, Luis A Diez-Bahamón, Germán Mejía-Salgado, Carlos Cifuentes-González, Alejandra de-la-Torre
PURPOSE: To report two cases of non-granulomatous unilateral anterior uveitis in two female patients associated with autoimmune liver diseases (ALD), emphasizing the possibility of this rare coexistence as a polyautoimmunity phenomenon. CASE DESCRIPTIONS: Case 1: An 18-year-old female with a history of congenital renal hypoplasia and metabolic syndrome presented with anterior uveitis in OS and a history of jaundice, blood elevated hepatic enzymes, and cholangioresonance compatible with primary sclerosing cholangitis (PSC)...
April 2, 2024: Ocular Immunology and Inflammation
#6
Panagiotis Katsikatsos, Konstantinos Douroumis, Dimitrios Goutas, Harikleia Gakiopoulou, Periklis Anastasiou, Ioannis Anastasiou
Renal endometriosis is a rare disorder of cases of urinary tract endometriosis. A 42-year-old woman presented at our outpatient department with an incidental painless mass on her left hypoplastic kidney revealed on an abdominal ultrasound. Abdominal and pelvic examinations revealed no abnormal findings. A computed tomography (CT) scan revealed an anterolateral slightly enhanced left renal mass that measured 1.2 cm in diameter. Furthermore, CT did not reveal any evidence of abdominal or thoracic metastasis. There are a few case reports in the literature of tumors in specimens from patients who underwent nephrectomy for hypoplastic kidneys, but discriminating between benign and malignant masses is difficult unless a nephrectomy is performed...
February 2024: Curēus
#7
Xiaohui Fu, Shuli Chen, Xiao Huang, Qinghua Lu, Yunfei Cui, Weinan Lin, Qin Yang
BACKGROUND: Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide...
2024: Frontiers in Endocrinology
#8
JOURNAL ARTICLE
Fabian Ebach, Pauline Wagner, Raimund Stein, Ramona Dolscheid-Pommerich, Heiko Reutter, Alina C Hilger
BACKGROUND: Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common entity. Familial occurrence has been described, suggestive of underlying genetic factors. LUTO can occur in various degrees of severity. In severe forms, oligohydramnios, pulmonary hypoplasia, and renal damage can occur resulting in high pre- and postnatal mortality. On the contrary, mild forms may become apparent through recurrent urinary tract infections...
March 2024: Health Science Reports
#9
JOURNAL ARTICLE
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi
Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes...
March 11, 2024: Pediatric Nephrology
#10
JOURNAL ARTICLE
Phawat Matemanosak, Krantarat Peeyananjarassri, Satit Klangsin, Saranya Wattanakumtornkul, Kriengsak Dhanaworavibul, Chainarong Choksuchat, Chatpavit Getpook
OBJECTIVE: This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. METHODS: This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. RESULTS: The study included 96 patients with MRKH syndrome...
March 8, 2024: Obstetrics & Gynecology Science
#11
JOURNAL ARTICLE
Roziana Roziana, Hilwah Nora, Cut R Maharani, Cut M Yeni, Tengku P Dewi, Rusnaidi Rusnaidi, Ima Indirayani, Rizka Aditya, Zain Al-Shather, Siti D Haryani
Herlyn-Werner-Wunderlich syndrome (HWWS), also known as OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) is a complex congenital malformation characterized by a triad including uterine didelphys, hemivaginal obstruction, and ipsilateral renal agenesis. In this case report, we present a case of HWWS along with the challenges in diagnosis and multi-step treatment processes. A 25-year-old woman presented to Dr. Zainoel Abidin Hospital in Banda Aceh, Indonesia with a chief complaint of lower back pain for the past six months (two months after the marriage)...
August 2023: Narra J
#12
JOURNAL ARTICLE
Alison J Perl, Han Liu, Matthew Hass, Nirpesh Adhikari, Praneet Chaturvedi, Yueh-Chiang Hu, Rulang Jiang, Yaping Liu, Raphael Kopan
BACKGROUND: Lifelong kidney function relies on the complement of nephrons generated during mammalian development from a mesenchymal nephron progenitor cell population. Low nephron endowment confers increased susceptibility to chronic kidney disease. Reduced nephron numbers in the popular Six2TGC transgenic mouse line may be due to disruption of a regulatory gene at the integration site and/or ectopic expression of a gene(s) contained within the transgene. METHODS: Targeted locus amplification (TLA) was performed to identify the integration site of the Six2TGC transgene...
March 6, 2024: Journal of the American Society of Nephrology: JASN
#13
Juan Carlos Delgado Márquez
Patients with chronic kidney disease who are candidates for transplant may experience changes in capillary permeability, coagulation, and the endocrine system; alterations in the pulmonary vasculature; and cardiac structural and functional changes. Patients with renal replacement by hemodialysis have a mortality rate 30 times higher than those who do not have uremia. According to the onset, duration, and severity of chronic kidney disease, cardiovascular disease will be reflected in baseline function and response to stress...
January 2024: Experimental and Clinical Transplantation
#14
JOURNAL ARTICLE
Daisuke Watanabe, Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Fuyuki Miya, Kenjiro Kosaki
Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies...
February 8, 2024: Pediatric Nephrology
#15
JOURNAL ARTICLE
Kara Short, Martha McBride, Scott Anderson, Rachel Miller, Daryl Ingram, Carl Coghill, Brian Sims, David Askenazi
Congenital kidney failure not only affects the homeostatic functions of the kidney, but also affects neonatal respiratory integrity. Until recently, extracorporeal membrane oxygenation (ECMO) support was not used in this population because the need for ECMO clearly established nonviability. Since 2016, 31 neonates have been admitted to the NICU at Children's of Alabama with congenital kidney failure. Five patients were placed on ECMO for severe respiratory distress unresponsive to conventional interventions...
March 1, 2024: Pediatrics
#16
JOURNAL ARTICLE
Prahara Yuri, Muhammad Anwar Irzan, Tanaya Ghinorawa, Muchamad Ridotu Solichin, Ery Kus Dwianingsih
BACKGROUND: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis. CASE PRESENTATION: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining...
January 26, 2024: Journal of Medical Case Reports
#17
REVIEW
Raegan B Abadie, Camryn L Keller, Nicholas T Jones, Erin L Mayeux, Rachel J Klapper, Lillian Anderson, Adam M Kaye, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D Kaye
Teratogenic agents have been shown to have drastic and detrimental effects on fetuses if exposed to the agent during uterine life. The most sensitive time for a developing fetus is during the first trimester, and teratogenic exposure during this time can lead to severe deformities in the fetus. The Food and Drug Administration has categorized teratogenic agents based on the severity of their effect on the fetus; these categories include A, B, C, D, and X. Category A is the safest, with the most dangerous, and highly contraindicated in pregnant patients being Category X...
December 2023: Curēus
#18
JOURNAL ARTICLE
Changqing Xia, Dibyendu Kumar, Bei You, Deanna L Streck, Lisa Osborne, James Dermody, Jie-Gen Jiang, Beth A Pletcher
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery...
December 2023: Journal of Pediatric Genetics
#19
JOURNAL ARTICLE
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, Lillian Garrett, Sabine M Hölter, Claudia Seisenberger, Stefan Haug, Pascal Schlosser, Susan Marschall, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Matthias Wuttke, Martin Hrabe de Angelis, Jasmina Ćomić, Özlem Akgün Doğan, Yasemin Özlük, Mehmet Taşdemir, Ayşe Ağbaş, Nur Canpolat, Naama Orenstein, Salim Çalışkan, Ruthild G Weber, Carsten Bergmann, Cecile Jeanpierre, Sophie Saunier, Tze Y Lim, Friedhelm Hildebrandt, Bader Alhaddad, Lina Basel-Salmon, Yael Borovitz, Kaman Wu, Dinu Antony, Julia Matschkal, Christian W Schaaf, Lutz Renders, Christoph Schmaderer, Manuel Rogg, Christoph Schell, Thomas Meitinger, Uwe Heemann, Anna Köttgen, Sebastian J Arnold, Fatih Ozaltin, Miriam Schmidts, Julia Hoefele
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases. Here, we aim to unravel underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presumed autosomal recessive inheritance. Exome sequencing in the index individuals revealed three different rare homozygous variants in FOXD2, encoding a transcription factor not previously implicated in CAKUT in humans: a frameshift in the Arabic and a missense variant each in the Turkish and the Israeli family with segregation patterns consistent with autosomal recessive inheritance...
December 26, 2023: Kidney International
#20
REVIEW
Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz
Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography...
November 27, 2023: Genes
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