keyword
https://read.qxmd.com/read/38465049/a-case-of-klippel-trenaunay-syndrome-complicated-by-group-a-streptococcemia-and-multiple-organ-failure
#21
Ramaditya Srinivasmurthy, George Gilles, Tha Sok, Brian Chang
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder defined as a triad of capillary malformation, venous malformation, and hypertrophy of soft tissue and bones, with or without lymphatic malformation. We report a case of a KTS patient with a hospital course complicated by Group A Streptococcus bacteremia and multiple organ failure. The 39-year-old female with KTS presented to the emergency department with a fever, tachycardia, hypotension, and profuse diarrhea for one week. Blood cultures grew Group A Streptococcus necessitating a multi-antibiotic regimen and intravenous immunoglobulins (IVIG)...
February 2024: Curēus
https://read.qxmd.com/read/38463087/a-congenital-renal-anomaly-concomitant-with-a-vascular-emergency-a-case-of-an-ectopic-pelvic-kidney-accompanied-by-aortoiliac-aneurysms
#22
Mudar Aljadaan, Omar Al Laham, Louay Khaled, Joudy Eljerdie, Mohammad Ghannam, Ammar Mohammad
INTRODUCTION AND IMPORTANCE: Ectopic pelvic kidneys are an extremely rare congenital renal system anomaly. This embryological occurrence transpires between the 4th and 8th gestational weeks, and is seen in 1 in every 2100-3000 births. Moreover, research articles indicate an incidence of ectopic pelvic kidneys ranging from 0.033 to 0.047%. The co-occurrence of this anomaly with an abdominal aortic aneurysm is an even rarer finding. CASE PRESENTATION: We report a rare case involving a 62-year-old Middle Eastern male with a right ectopic pelvic kidney...
March 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38456468/the-clinical-and-genetic-spectrum-of-inherited-glycosylphosphatidylinositol-deficiency-disorders
#23
JOURNAL ARTICLE
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics, and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals: the largest single cohort to date...
March 8, 2024: Brain
https://read.qxmd.com/read/38450505/analysis-of-haemodynamics-surrounding-blood-transfusions-after-the-arterial-switch-operation-a-pilot-study-utilising-real-time-telemetry-high-frequency-data-capture
#24
JOURNAL ARTICLE
Matthew F Mikulski, Antonio Linero, Daniel Stromberg, Jeremy T Affolter, Charles D Fraser, Carlos M Mery, Richard P Lion
BACKGROUND: Packed red blood cell transfusions occur frequently after congenital heart surgery to augment haemodynamics, with limited understanding of efficacy. The goal of this study was to analyse the hemodynamic response to packed red blood cell transfusions in a single cohort, as "proof-of-concept" utilising high-frequency data capture of real-time telemetry monitoring. METHODS: Retrospective review of patients after the arterial switch operation receiving packed red blood cell transfusions from 15 July 2020 to 15 July 2021...
March 7, 2024: Cardiology in the Young
https://read.qxmd.com/read/38450268/herlyn-werner-wunderlich-syndrome-challenges-in-diagnosis-and-management
#25
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
https://read.qxmd.com/read/38448513/interleukin-10-enhances-recruitment-of-immune-cells-in-the-neonatal-mouse-model-of-obstructive-nephropathy
#26
JOURNAL ARTICLE
Maja Wyczanska, Franziska Thalmeier, Ursula Keller, Richard Klaus, Hamsa Narasimhan, Xingqi Ji, Barbara U Schraml, Lou M Wackerbarth, Bärbel Lange-Sperandio
Urinary tract obstruction during renal development leads to inflammation, leukocyte infiltration, tubular cell death, and interstitial fibrosis. Interleukin-10 (IL-10) is an anti-inflammatory cytokine, produced mainly by monocytes/macrophages and regulatory T-cells. IL-10 inhibits innate and adaptive immune responses. IL-10 has a protective role in the adult model of obstructive uropathy. However, its role in neonatal obstructive uropathy is still unclear which led us to study the role of IL-10 in neonatal mice with unilateral ureteral obstruction (UUO)...
March 6, 2024: Scientific Reports
https://read.qxmd.com/read/38447536/cyanotic-nephropathy-in-an-adult-patient-with-eisenmenger-syndrome-a-case-report-and-literature-review
#27
Fanyou Zhu, Rui Wen, Xiangling Tan, Hongjun Nie, Jiali Li, Qi Wang, Jiao Qin
INTRODUCTION: Cyanotic nephropathy, a rare disease characterized by proteinuria, decreased estimated glomerular filtration rate (eGFR), thrombocytopenia, polycythemia, and hyperuricemia, may occasionally be secondary to cyanotic congenital heart disease. There are currently no detailed diagnostic criteria or treatments for cyanotic nephropathy owing to its extremely low incidence. Eisenmenger syndrome (ES) was initially defined by Paul Wood in pathophysiologic terms as "pulmonary hypertension (PH) at the systemic level, caused by a high pulmonary vascular resistance (PVR), with a reversed or bidirectional shunt at aorto-pulmonary, ventricular, or atrial level...
March 6, 2024: Kidney & Blood Pressure Research
https://read.qxmd.com/read/38445832/nuclear-medicine-and-pediatric-nephro-urology-a-long-lasting-successful-partnership
#28
JOURNAL ARTICLE
Ana I Santos, Rita T Ferreira
Congenital anomalies of the kidney and urinary tract, as well as urinary infections, are very frequent in children. After the clinical and laboratory evaluation, the first imaging procedure to be done is a renal and bladder ultrasound, but afterwards, a main contribution comes from nuclear medicine. Through minimally invasive and sedation-free procedures, nuclear medicine allows the evaluation of the functional anatomy of the urinary tract, and the quantification of renal function and drainage. If pediatric dosage cards provided by scientific societies are used, radiation exposure can also be low...
March 6, 2024: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://read.qxmd.com/read/38442972/simpson-golabi-behmel-syndrome-type-1-with-normal-birth-parameters
#29
JOURNAL ARTICLE
Brian Hon Yin Chung, Shu-Ling Sophie Yeow, Joshua Chun Ki Chan, Mianne Lee
A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an overgrowth syndrome was still suspected despite the baby having normal birth parameters...
March 4, 2024: BMJ Case Reports
https://read.qxmd.com/read/38441661/primary-non-refluxing-megaureter-natural-history-follow-up-and-treatment
#30
REVIEW
Giulio Rivetti, Pierluigi Marzuillo, Stefano Guarino, Anna Di Sessa, Angela La Manna, Anthony A Caldamone, Alfonso Papparella, Carmine Noviello
UNLABELLED: Primary non-refluxing megaureter (PMU) is a congenital dilation of the ureter which is not related to vesicoureteral reflux, duplicated collecting systems, ureterocele, ectopic ureter, or posterior urethral valves and accounts for 5 to 10% of all prenatal hydronephrosis (HN) cases. The etiology is a dysfunction or stenosis of the distal ureter. Most often PMU remains asymptomatic with spontaneous resolution allowing for non-operative management. Nevertheless, in selective cases such as the development of febrile urinary tract infections, worsening of the ureteral dilatation, or reduction in relative renal function, surgery should be considered...
March 5, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38440183/importance-of-genetic-sequencing-studies-in-managing-chronic-neonatal-diarrhea-a-case-report-of-a-novel-variant-in-the-glucose-galactose-transporter-slc5a1
#31
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña
INTRODUCTION: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico. METHODS: The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea. RESULTS: The infant was born at term by C-section with a birth weight of 3...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38438734/single-cell-guided-prenatal-derivation-of-primary-fetal-epithelial-organoids-from-human-amniotic-and-tracheal-fluids
#32
JOURNAL ARTICLE
Mattia Francesco Maria Gerli, Giuseppe Calà, Max Arran Beesley, Beatrice Sina, Lucinda Tullie, Kylin Yunyan Sun, Francesco Panariello, Federica Michielin, Joseph R Davidson, Francesca Maria Russo, Brendan C Jones, Dani Do Hyang Lee, Savvas Savvidis, Theodoros Xenakis, Ian C Simcock, Anna A Straatman-Iwanowska, Robert A Hirst, Anna L David, Christopher O'Callaghan, Alessandro Olivo, Simon Eaton, Stavros P Loukogeorgakis, Davide Cacchiarelli, Jan Deprest, Vivian S W Li, Giovanni Giuseppe Giobbe, Paolo De Coppi
Isolation of tissue-specific fetal stem cells and derivation of primary organoids is limited to samples obtained from termination of pregnancies, hampering prenatal investigation of fetal development and congenital diseases. Therefore, new patient-specific in vitro models are needed. To this aim, isolation and expansion of fetal stem cells during pregnancy, without the need for tissue samples or reprogramming, would be advantageous. Amniotic fluid (AF) is a source of cells from multiple developing organs. Using single-cell analysis, we characterized the cellular identities present in human AF...
March 4, 2024: Nature Medicine
https://read.qxmd.com/read/38433342/mtor-inhibition-within-the-first-days-after-pediatric-heart-transplantation-is-a-potentially-safe-option-to-prevent-cardiac-allograft-vasculopathy
#33
JOURNAL ARTICLE
Hannah Kreienbaum, Brigitte Stiller, Rouven Kubicki, Alexej Bobrowski, Johannes Kroll, Thilo Fleck
BACKGROUND: Immunosuppression after heart transplantation (HTX) with mammalian target of rapamycin (mTOR) inhibitors serves as a prophylaxis against rejection and to treat coronary vascular injury. However, there is little data on the early, preventive use of everolimus after pediatric HTX. METHODS: Retrospective study of 61 pediatric HTX patients (48 cardiomyopathy and 13 congenital heart disease), 28 females, median age 10.1 (range 0.1-17.9) years transplanted between 2008 and 2020...
March 2024: Pediatric Transplantation
https://read.qxmd.com/read/38432428/pneumovesicoscopic-trans-vesical-ureteric-reimplantation-for-the-correction-of-congenital-lower-ureteric-anomalies-in-children-a-regional-arabian-gulf-multicenter-retrospective-experience
#34
JOURNAL ARTICLE
Adel Aljneibi, Soliman Safoury Hesham, Hobeldin Mohamed, Abdelsalam Saif, Alsaid Abdulnaser, Alhazmi Hamdan, Khalfan Khaled, Almaghrabi Abdulrahman, Abdelatty Mostafa, Osman Hazaa Mohamed, Khan Ashhad Ali, Youssef Ahmed Abdelhaseeb
PURPOSE: To report and compare the outcomes of three different techniques of pneumovesicoscopic ureteric reimplantation applied in children. MATERIALS AND METHODS: The study included 178 renal units in 105 patients who underwent pneumovesicoscopic reimplantation between January 2016 and October 2021. Presentation, indication for surgery, surgical technique, operative time, operative details, days of hospitalization and catheterization, and outcome were retrieved from patients' electronic records...
March 1, 2024: Urology
https://read.qxmd.com/read/38415047/hysterosalpingography-and-ultrasonography-features-of-herlyn-werner-wunderlich-syndrome-detected-during-infertility-workup
#35
Hidayatullah Hamidi, Bibi Hosai Balkhi
The Herlyn-Werner-Wunderlich syndrome (HWWS) is a very rare congenital anomaly of the urogenital tract. It is characterized by a combination of didelphys uterus, unilateral vaginal obstruction, and ipsilateral renal agenesis. MRI imaging is usually used for diagnosis; however, the authors present a case of HWWS diagnosed by ultrasonography (HSG) and hysterosalpingography (HSG) in a 22-year-old lady who has undergone an imaging workup of infertility.
2024: Case Reports in Radiology
https://read.qxmd.com/read/38413141/rare-cause-of-recurrent-hypocalcaemia-and-functional-hypoparathyroidism-due-to-hypomagnesaemia-caused-by-trpm6-gene-mutation
#36
JOURNAL ARTICLE
Savita Khadse, Vrushali Satish Takalikar, Radha Ghildiyal, Nikhil Shah
Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be treated only by long-term oral magnesium supplements. The patient presented to us with recurrent hypocalcaemic convulsions...
February 26, 2024: BMJ Case Reports
https://read.qxmd.com/read/38409496/the-c-1617del-variant-of-tmem260-is-identified-as-the-most-frequent-single-gene-determinant-for-japanese-patients-with-a-specific-type-of-congenital-heart-disease
#37
JOURNAL ARTICLE
Tadashi Inoue, Ryuta Takase, Keiko Uchida, Kazuki Kodo, Kenji Suda, Yoriko Watanabe, Koh-Ichiro Yoshiura, Masaya Kunimatsu, Reina Ishizaki, Kenko Azuma, Kei Inai, Jun Muneuchi, Yoshiyuki Furutani, Hiroyuki Akagawa, Hiroyuki Yamagishi
Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA...
February 26, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38406130/complements-and-their-role-in-systemic-disorders
#38
REVIEW
Samuel Sherng Young Wang, Haoming Tang, Marcus Wing Choy Loe, See Cheng Yeo, Muhammad M Javaid
The complement system is critical to the body's innate defense against exogenous pathogens and clearance of endogenous waste, comprising the classical, alternative, and lectin pathways. Although tightly regulated, various congenital and acquired diseases can perturb the complement system, resulting in specific complement deficiencies. Systemic rheumatic, neurological, ophthalmological, renal, and hematological disorders are some prototypical complement-mediated diseases. An adequate understanding of the mechanisms of the normal complement system and the pathophysiology of complement dysregulation is critical for providing diagnostic clues and appropriately managing these conditions...
January 2024: Curēus
https://read.qxmd.com/read/38405245/comparison-of-the-surgical-outcomes-in-neonates-with-left-sided-congenital-diaphragmatic-hernia-with-only-skin-closure-versus-abdominal-muscle-closure
#39
JOURNAL ARTICLE
Sravanthi Vutukuru, Prema Menon, Shailesh Solanki
AIM: This study aims to compare the outcome of neonatal left congenital diaphragmatic hernia (CDH, Bochdalek type) repair through laparotomy with and without abdominal muscle closure. MATERIALS AND METHODS: This retrospective study was conducted between January 2012 and May 2021 at a neonatal surgical unit of a Tertiary Care Center. Demographic details, preoperative management, Two-dimensional-echo, intra-operative findings, postoperative course, and follow-up data were collected and analyzed...
2024: Journal of Indian Association of Pediatric Surgeons
https://read.qxmd.com/read/38394395/congenital-anomalies-of-kidney-and-urinary-tract-cakut-and-associated-extra-renal-anomalies-in-fetal-autopsies
#40
JOURNAL ARTICLE
Esra Çobankent Aytekin, Cem Y Sanhal, Havva Serap Toru
OBJECTIVES AND BACKGROUND: According to studies, 1% of all pregnancies have an abnormality, with 20-30% of those affecting the genitourinary system. Congenital abnormalities of the kidney and urinary tract (CAKUT) is one of the primary causes of perinatal and neonatal mortality in children. Many extra-renal congenital illnesses accompany these defects, affecting the patient's prognosis. This study aims to determine the subtypes, frequency, and extra-renal defects associated with congenital anomalies of the urinary system, which is the major cause of mortality in fetal and infant autopsies throughout the perinatal and neonatal eras...
November 9, 2023: Indian Journal of Pathology & Microbiology
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