keyword
https://read.qxmd.com/read/33632934/-piga-mutations-can-mimic-neonatal-hemochromatosis
#1
Jaime Flores-Torres, Jane D Carver, Amarilis Sanchez-Valle
Neonatal hemochromatosis (NH), one of the most common causes of liver failure in the neonate, often causes fetal loss or death during the neonatal period. Most cases are thought to be due to gestational alloimmune disease; however, other rare causes have been reported. NH is generally considered congenital and familial but not heritable. We present an infant diagnosed with NH whose clinical course differed significantly from that of most NH cases: at 11 months of age he had normal levels of liver enzymes, ferritin, and bilirubin, and normal neurodevelopment...
February 25, 2021: Pediatrics
https://read.qxmd.com/read/33626232/combined-treatment-of-ureteropelvic-junction-obstruction-and-renal-calculi-with-robot-assisted-laparoscopic-pyeloplasty-and-laser-lithotripsy-in-children-case-report-and-non-systematic-review-of-the-literature
#2
Simone Scarcella, Marco Tiroli, Giovanni Torino, Francesca Mariscoli, Giovanni Cobellis, Andrea Benedetto Galosi
OBJECTIVE(S): The incidence of urinary tract stone disease is steadily increasing in both adult and paediatric populations. This condition develops due to different factors: dietary or metabolic alterations, infection and congenital anatomic malformations. Standard indications and treatments for children are analogous to the ones indicated for adults. Extracorporeal shock wave lithotripsy (SWL), ureterorenoscopy (URS), percutaneous nephrolithotomy (PCNL) should be preferred to more invasive techniques...
February 24, 2021: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://read.qxmd.com/read/33625594/malignant-hyperthermia-in-a-16-day-old-infant-with-congenital-diaphragmatic-hernia-a-case-report
#3
Yasuo M Tsutsumi, Nami Kakuta, Ryosuke Kawanishi, Katsuya Tanaka, Rieko Kanzaki, Atsushi Morio, Yuko Noda, Hirotsugu Miyoshi, Takashi Kondo, Keiko Mukaida
Malignant hyperthermia (MH) is a severe hypermetabolic disorder associated with dysregulation of calcium homeostasis and is triggered by inhalational anesthetics (isoflurane, sevoflurane, desflurane) and a depolarizing muscle relaxant (succinylcholine). We report the case of a 16-day-old infant undergoing laparoscopic surgery. The patient developed hyperthermia and hypercarbia with muscle rigidity. After the diagnosis of MH, dantrolene was administered with sufficient hydration. The patient was transferred to the pediatric intensive care unit for monitoring and treatment of acute renal injury due to myoglobinuria...
February 24, 2021: Journal of Anesthesia
https://read.qxmd.com/read/33621745/risk-factors-for-hemolysis-during-extracorporeal-life-support-for-congenital-diaphragmatic-hernia
#4
Yigit S Guner, Patrick T Delaplain, John Schomberg, Matteo Di Nardo, Peter T Yu, Danny Lam, Tim Jancelewicz, Matthew T Harting, Joanne P Starr, Danh V Nguyen
BACKGROUND: Neonates receiving extracorporeal life support (ECLS) for congenital diaphragmatic hernia (CDH) require prolonged support compared with neonates with other forms of respiratory failure. Hemolysis is a complication that can be seen during ECLS and can lead to renal failure and potentially to worse outcomes. The purpose of this study was to identify risk factors for the development of hemolysis in CDH patients treated with ECLS. METHODS: The Extracorporeal Life Support Organization database was used to identify infants with CDH (2000-2015)...
February 20, 2021: Journal of Surgical Research
https://read.qxmd.com/read/33620890/selection-of-candidates-for-foetal-intervention-in-congenital-lower-urinary-tract-obstruction
#5
Ahmed A Nassr, James E Fisher, Michael A Belfort
PURPOSE OF REVIEW: Congenital lower urinary tract obstruction (LUTO) is a rare group of conditions characterized by high perinatal morbidity and mortality if associated with oligohydramnios or anhydramnios in early pregnancy. Although foetal intervention has the potential to improve perinatal survival in a select group of foetuses with LUTO, the actual selection of those candidates most likely to benefit from intervention remains challenging. RECENT FINDINGS: Foetuses with LUTO who are potential candidates for prenatal intervention should undergo detailed multidisciplinary evaluation to ensure proper assessment and counselling...
April 1, 2021: Current Opinion in Obstetrics & Gynecology
https://read.qxmd.com/read/33616778/renal-morphology-and-function-from-childhood-to-adulthood-in-turner-syndrome
#6
Tetsushi Ogawa, Fumihiko Takizawa, Yuri Mukoyama, Atsushi Ogawa, Junko Ito
BACKGROUND: Turner syndrome (TS) is a chromosomal disorder with various complications, including congenital anomaly of the kidney and urinary tract (CAKUT). However, its renal function remains poorly known. Therefore, this study aimed to evaluate renal function in TS of various ages from childhood to adulthood. METHODS: We retrospectively analyzed 63 patients with TS who visited our hospital between 1989 and 2020, examined their renal morphology, and analyzed renal function by calculating the estimated glomerular filtration rate (eGFR) using formulas applicable for Japanese populations...
February 22, 2021: Clinical and Experimental Nephrology
https://read.qxmd.com/read/33616304/accompanied-anomalies-in-anal-atresia-or-tracheo-esophageal-fistula-comparison-with-or-without-vacterl-association
#7
Ji Hyun Ahn, Hee Joung Choi
PURPOSE: We evaluated the various accompanied malformations in patients with anal atresia or tracheoesophageal fistula (TEF). Furthermore, we determined the prevalence of VACTERL association and compared the clinical findings with those of patients without VACTERL association. METHODS: We enrolled the patients with anal atresia or TEF with/without esophageal atresia. We collected the patient data pertaining to accompanied vertebral, cardiovascular, renal or limb anomalies, single umbilical artery, maternal diabetes mellitus or drug history, and gene research...
February 22, 2021: Birth Defects Research
https://read.qxmd.com/read/33614122/herlyn-werner-wunderlich-syndrome-in-a-multiparous-female
#8
HarSumeet Singh Sidhu, Prateek Kumar Madaan
Herlyn-Werner-Wunderlich syndrome is a rare complex congenital anomaly of the urogenital tract involving Mullerian ducts and mesonephric ducts. It is also called OHVIRA syndrome (Obstructed Hemivagina and Ipsilateral Renal agenesis). It is characterized by a triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. Patients usually present after menarche with pelvic pain, dysmenorrhea, mass, and rarely with primary infertility in later years. We report a case of a multiparous female who presented to the hospital with pain in lower abdomen for the past 2 months and acute retention of urine for 1 day...
February 1, 2021: BJR Case Reports
https://read.qxmd.com/read/33608743/prenatal-diagnosis-of-intestinal-nonrotation-using-magnetic-resonance-imaging-is-it-possible
#9
Anna R Blask, Kimberly E Fagen, Eva I Rubio, Andrea T Badillo, Dorothy I Bulas
BACKGROUND: Malrotation of the bowel refers to any variation in the rotation and fixation of the gastrointestinal tract during the first trimester and is most commonly detected postnatally. Nonrotation of the bowel and incomplete rotation of the bowel are subtypes of malrotation. OBJECTIVE: To determine if the nonrotation subtype of malrotation of the bowel can be detected on prenatal magnetic resonance imaging (MRI). MATERIALS AND METHODS: Cases from 2012 to 2018 with nonrotation of the bowel without obstruction confirmed by imaging, surgery and/or autopsy were compared to prenatal imaging...
February 20, 2021: Pediatric Radiology
https://read.qxmd.com/read/33608332/renal-lobar-dysmorphism-a-potential-mimic-of-renal-malignancy
#10
Derek Barry Hennessey, Adrian B Brady, Rhona Dempsey, Kenneth Patterson
A renal pseudotumour is any apparent renal mass that simulates a tumour on radiological imaging but is composed of normal tissue. Renal pseudotumours may be inflammatory, vascular, postsurgical or congenital. We report a case of renal lobar dysmorphism (RLD) of the kidney, a congenital renal pseudotumour. A 45-year-old man presented with scrotal swelling. Testicular ultrasound showed an epididymal cyst. Renal ultrasound showed a right solid renal apparent mass of 2.4 cm in diameter. Triphasic renal CT showed this was consistent with RLD...
February 19, 2021: BMJ Case Reports
https://read.qxmd.com/read/33605205/graft-nephrectomy-as-rescue-therapy-for-posttransplant-rhizopus-pyelonephritis-in-a-pediatric-patient
#11
Xavier L Baldwin, Pablo Serrano Rodriguez, Volker Nickeleit, Alexander Toledo
Rhizopus infection is an often-fatal complication after transplant. We present a 3-year-old pediatric patient with end-stage renal disease due to congenital hypoplastic kidneys who underwent deceased donor renal transplant. Approximately 3 months after transplant, the patient underwent renal biopsy for a presentation of fevers, acute kidney injury, and imaging evidence of hydronephrosis. The patient was found to have a Rhizopus infection of the transplanted kidney and underwent transplant nephrectomy. In addition to surgical debridement of the infection, the patient was treated with long-term antifungal therapy for complete eradication...
February 19, 2021: Experimental and Clinical Transplantation
https://read.qxmd.com/read/33605195/renal-transplant-in-pediatric-patients-with-congenital-abnormalities-of-the-lower-urinary-tract
#12
Rafael Figueiredo, Daniel Meireles, Teresa Costa, Conceição Mota, Alberto Caldas Afonso
OBJECTIVES: Congenital abnormalities of the lower urinary tract can result in end-stage renal disease and are responsible for a significant number of renal transplants. Management of these patients is not always consensual, and more evidence is required about the frequency of associated complications. Our aim was to report the experience of a Pediatric Renal Transplant Unit with renal transplant in pediatric patients with congenital abnormalities of the lower urinary tract. MATERIALS AND METHODS: Data on renal transplants performed in pediatric patients with congenital abnormalities of the lower urinary tract between January 1, 2009, and December 31, 2019, in this center were retrospectively reviewed...
February 19, 2021: Experimental and Clinical Transplantation
https://read.qxmd.com/read/33600681/congenital-nephrotic-syndrome-and-persistent-hypothyroidism-after-bilateral-nephrectomy
#13
Martina Kacer, Dilys A Whyte, Ivy Boydstun, Thomas A Wilson
Congenital nephrotic syndrome is commonly associated with hypothyroidism. Thyroid hormone supplementation is recommended as standard of care. The hypothyroidism is postulated to occur secondary to chronic massive proteinuria with loss of thyroid binding globulin, thyroid hormone and iodine. Previous reports have indicated that thyroxin may be discontinued following bilateral nephrectomy. We report our experience with one child with congenital nephrotic syndrome, Finnish type, and hypothyroidism who had a high requirement for thyroxin (100-150 μg/d) from infancy to 4 years of age...
October 22, 2020: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/33599438/congenital-chloride-diarrhea-in-patient-with-slc26a2-mutation-analysis-of-the-clinical-phenotype-and-differential-diagnosis
#14
Meiyuan Sun, Na Tao, Xiaomei Liu, Yang Yang, Yanfang Su, Fang Xu
INTRODUCTION: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis. MATERIAL AND METHODS: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD. RESULTS: Excessive accumulation of amniotic fluid was observed during pregnancy...
2021: Pediatric Endocrinology, Diabetes, and Metabolism
https://read.qxmd.com/read/33599186/an-unusual-ophthalmic-presentation-of-wolf-hirschhorn-syndrome
#15
Gökhan Çelik, Bilge Batu Oto, Osman Kızılay, Oğuzhan Kılıçarslan, Handan Hakyemez Toptan
Purpose : Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye. Methods : Case report Results : A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities...
February 18, 2021: Ophthalmic Genetics
https://read.qxmd.com/read/33597382/-a-case-of-laparoscopic-hartmann-s-procedure-for-rectal-cancer-with-inferior-mesenteric-vein-left-ovarian-vein-shunt
#16
Daisuke Kuwata, Tatsuya Hasebe, Masaki Nara, Tsuyoshi Nozaki, Susumu Ooishi, Shuichi Yoshihara
A 77-year-old woman presented with a chief complaint of bloody stools. Detailed examination revealed a semi-circumferential type 2 tumor in the lower rectum, and a diagnosis of Group 5, tub1-2, cT3N2aM0, cStage Ⅲb rectal cancer was made. Preoperative abdominal CT scans revealed a shunt in the inferior mesenteric vein and left ovarian vein. Laparoscopic Hartmann's procedure was performed, and when the sigmoid mesentery was moved from the inner side, a shunt flowing from the left ovarian vein to the inferior mesenteric vein in the sigmoid mesentery was found, which was then dissected...
February 2021: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://read.qxmd.com/read/33588940/sglt2-inhibition-alleviated-hyperglycemia-glucose-intolerance-and-dumping-syndrome-like-symptoms-in-a-patient-with-glycogen-storage-disease-type-ia-a-case-report
#17
Daisuke Katayama, Hiroo Baba, Takashige Kuwabara, Jun Kido, Hiroshi Mitsubuchi, Shirou Matsumoto, Kimitoshi Nakamura
BACKGROUND: Glycogen storage disease (GSD) type Ia is a glycogenesis disorder with long-term complications such as hepatomegaly and renal dysfunction and is caused by congenital loss of glucose-6-phosphatase (G6Pase) expression. G6Pase is essential for the final step of gluconeogenesis and glycogenolysis, and its deficiency causes clinical hypoglycemia in the fasting state during infancy. Contrastingly, patients also show blood glucose trends and glucose intolerance similar to those in type II diabetes...
February 16, 2021: Journal of Medical Case Reports
https://read.qxmd.com/read/33588901/incidental-finding-of-apc-deletion-in-a-child-double-trouble-or-double-chance-a-case-report
#18
Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso, Stefano Signoroni, Silvana Guerneri, Alessandra Carnevali, Paola Giovanna Marchisio, Donatella Milani
BACKGROUND: 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid hypoplasia, developmental delay, learning disabilities, psychiatric disorders, renal, ocular, and skeletal malformations, hearing loss and laryngeal abnormalities. Chromosomal microarray (CMA) hybridization is one of the most performed diagnostic tests but as a genome wide analysis, it can point out relevant incidental copy number variations...
February 15, 2021: Italian Journal of Pediatrics
https://read.qxmd.com/read/33586914/causes-of-neonatal-and-postneonatal-death-among-infants-with-birth-defects-in-texas
#19
Renata H Benjamin, Jason L Salemi, Mark A Canfield, Wendy N Nembhard, Cecilia Ganduglia Cazaban, KuoJen Tsao, Anthony Johnson, A J Agopian
BACKGROUND: The proportion of deaths attributed to various causes has not been quantified among infants with birth defects. We sought to describe the causes of neonatal and postneonatal death among infants in the Texas Birth Defects Registry. METHODS: We calculated frequencies and percentages for both underlying causes and all causes (underlying or contributing) of neonatal (0-27 days) and postneonatal (28-364 days) death listed on death certificates among infants born alive with birth defects and delivered in Texas during 1999-2013 (n = 8,389 deaths)...
February 15, 2021: Birth Defects Research
https://read.qxmd.com/read/33585676/risk-factors-and-patient-profile-of-infective-endocarditis-due-to-gemella-spp
#20
Pramod Theetha Kariyanna, Bayu Sutarjono, Naga Pranavi Ellanti, Apoorva Jayarangaiah, Amog Jayarangaiah, Harshith Priyan Chandrakumar, Ashkan Tadayoni, Moro O Salifu, Isabel M McFarlane
Background: The diagnosis of infective endocarditis is difficult, especially when it involves atypical organisms. Therefore, our study identified risk factors of infective endocarditis caused by rare pathogen, Gemella spp . Methods: A systematic review was conducted to investigate characteristics of endocarditis patients infected with Gemella spp. using the search term " Gemella " and "endocarditis." Case reports were gathered by searching Medline/Pubmed, Google Scholar, CINAHL, Cochrane CENTRAL, and Web of Science databases...
2021: American Journal of Medical Case Reports
keyword
keyword
42471
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"