keyword
https://read.qxmd.com/read/38562132/fetal-wilm-s-tumor-detection-preceding-the-development-of-isolated-lateralized-overgrowth-of-the-limb-a-case-report-and-review-of-literature
#1
Elie Bechara, Chloé Saadé, Caroline Geagea, Daniel Charouf, Pauline Abou Jaoude
Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are being reported. The management of these cases remains challenging. Herein, we present the case of a full-term female infant diagnosed antenatally at 32 weeks of gestation with a right solid renal mass detected on routine prenatal ultrasound without polyhydramnios. At birth, the infant was healthy, with no evidence of dysmorphic features or abnormal laboratory tests to suggest a predisposition syndrome. Her family history was also unremarkable...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38529718/a-case-of-pregnancy-with-severe-polyhydramnios-related-to-long-term-use-of-lithium
#2
JOURNAL ARTICLE
Aldo Stoppa, Ester Roda, Lluïsa Garcia-Esteve, Alba Roca-Lecumberri
OBJECTIVES: Severe polyhydramnios during pregnancy may be associated with long-term lithium use and presents considerable challenges. This complication, which has been linked to induced nephrogenic diabetes insipidus (NDI), underscores the necessity for cautious management of pregnant women with bipolar disorder. This case report aims to elucidate the relationship between long-term lithium use, pregnancy, and the development of severe polyhydramnios, emphasizing the importance of diagnosing NDI in order to prevent obstetric and neonatal complications...
March 26, 2024: Bipolar Disorders
https://read.qxmd.com/read/38403928/analysis-of-the-clinical-diagnosis-and-treatment-of-fetal-meconium-peritonitis
#3
JOURNAL ARTICLE
Xiu-Qiong Zheng, Dao-Ming Wu, Xian Chen, Jin-Xiao Lin, Xue-Chun Wang, Kun-Hai Ren, Hong-Qing Liu, Rong-Li Xu, Jian-Ying Yan
BACKGROUND: The purpose of this study was to improve diagnostic and therapeutic standards by examining the clinical features, treatment, and prognosis of fetal meconium peritonitis (FMP), as well as the diagnostic efficacy of ultrasound for FMP. METHODS: The clinical data of 41 infants and pregnant women diagnosed with meconium peritonitis (MP) and treated at the Fujian Maternal and Child Health Hospital from January 2013 to January 2020 were analyzed retrospectively...
December 2024: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/38305290/down-regulation-of-cpeb4-alleviates-preeclampsia-through-the-inhibition-of-ferroptosis-by-pfkfb3
#4
JOURNAL ARTICLE
Jiao Song, Hailan Yang
Gestational diabetes mellitus (GDM) complicated with preeclampsia can lead to polyhydramnios, ketosis. Herein, we explored that CPEB4 in cancer progression of preeclampsia and its underlying mechanism. All the serum samples were collected from patients with preeclampsia. These was the induction of CPEB4 in patients with preeclampsia. The serum of CPEB4 mRNA expression was positive correlation with Proteinuria, systolic blood pressure and diastolic blood pressure in patients. The serum of CPEB4 mRNA expression was also negative correlation with body weight of infant in patients...
2024: Critical Reviews in Eukaryotic Gene Expression
https://read.qxmd.com/read/38205489/genetic-disorders-underlying-polyhydramnios-and-congenital-hypotonia-three-case-reports-and-a-review-of-the-literature
#5
Niki Dermitzaki, Themistoklis Loukopoulos, Athanasios Zikopoulos, Anastasia Vatopoulou, Sofoklis Stavros, Chara Skentou
An abnormal rise in the amount of amniotic fluid is a frequent prenatal observation called polyhydramnios, which can indicate a number of underlying problems. Even while it frequently goes undiagnosed during pregnancy, it may be linked to dangerous fetal illnesses. In three cases of newborns with congenital hypotonia, polyhydramnios was the sole prenatal symptom reported in this study. This fact highlights the significance of understanding the possible connection between genetic abnormalities or neurological problems and polyhydramnios, underscoring the responsibility obstetricians have in educating expectant mothers who are at potential risk for these uncommon but serious illnesses...
December 2023: Curēus
https://read.qxmd.com/read/38159268/successful-antenatal-treatment-of-maged2-related-bartter-syndrome-and-review-of-treatment-options-and-efficacy
#6
REVIEW
Caroline J Walsh, Kestutis Micke, Hannah Elfman, Margret Bock, Teresa Harper, Michael Zaretsky, Henry L Galan, Nicholas Behrendt, Manesha Putra
A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise...
December 30, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38098567/a-massive-primary-congenital-mesoblastic-nephroma-was-successfully-managed-through-open-total-nephrectomy-a-case-report
#7
Raghad Samha, Marah Mansour, Yara AlAwad, Bsher Almaalouli, Reema Mayhoob, Aliaa Al Sabbagh, Rama Aljundi, Ali Barakat
BACKGROUND: Congenital mesoblastic nephroma is the most common renal tumor in children under the age of 6 months, comprising 3-10% of all kidney tumors in children. It is a rare and mostly benign tumor. It divides into cellular, classic, and mixed subtypes. It is typically detected in the third trimester of pregnancy using ultrasonography and magnetic resonance imaging. The best treatment is surgically by completely removing the tumor. CASE PRESENTATION: We reported a case of a one-day-old female who was born at 31 weeks gestation weighing 1670 g...
December 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/38090535/ex-utero-intrapartum-treatment-to-airway-for-obstructing-fetal-neck-masses-a-singular-methodology-for-monochorionic-and-dichorionic-twin-pregnancies
#8
Steven T Papastefan, Federico Scorletti, Amir M Alhajjat, Katherine C Ott, Jeffrey C Rastatter, Xavier F Pombar, Aimen F Shaaban
Fetal airway obstruction in one twin of a diamniotic pregnancy presents unique challenges. Very few cases of ex-utero-intrapartum-treatment (EXIT) procedures for twin pregnancy have been reported and only in dichorionic pregnancies. We report a singular methodology for EXIT-to-airway procedures in two pregnancies involving monochorionic and dichorionic twins. Two cases of EXIT-to-airway in twin pregnancies were performed in 2018 and 2019 at a regional fetal treatment center. Case 1 involved a giant cervical teratoma in a monochorionic-diamniotic twin pregnancy with preterm labor at 29 weeks...
July 2023: American Journal of Perinatology Reports
https://read.qxmd.com/read/38042795/maternal-and-obstetric-outcomes-after-ex-utero-intrapartum-treatment-exit-a-single-center-experience
#9
JOURNAL ARTICLE
Marta Domínguez-Moreno, Ángel Chimenea, Lutgardo García-Díaz, Guillermo Antiñolo
BACKGROUND: The Ex-utero Intrapartum Treatment (EXIT) is a procedure developed to manage a range of fetal conditions, aiming to ensure the maintenance of neonatal airway and preserving the feto-placental circulation. Its goal is to enhance the neonatal ability to successfully transition and adapt to postnatal life, thereby reducing perinatal morbidity and mortality. However, EXIT has been associated with a high risk of maternal complications. This paper provides an overview of the indications and characteristics of the EXIT procedure, as well as the obstetric outcomes and maternal complications...
December 2, 2023: BMC Pregnancy and Childbirth
https://read.qxmd.com/read/38013315/treatment-of-congenital-pulmonary-airway-malformation-with-rare-high-cystic-volume-ratio-a-case-report-and-literature-review
#10
REVIEW
Miao Huang, Yun-Hui Gong
RATIONALE: Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation and accounts for 25% of congenital lung lesions. Commonly, it is diagnosed prenatally in ultrasound. The CPAM volume ratio (CVR) is a well-recognized predictor of fetal prognosis, and when the CVR is >1.6 cm2, the fetus is very likely to develop hydrops and even intrauterine deaths. However, the association of CVR with a wide range of complications and neonatal prognosis is unclear...
November 24, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37975110/maternal-and-fetal-outcomes-of-pregnancies-associated-with-single-versus-double-abnormal-values-in-100-gr-glucose-tolerance-test
#11
JOURNAL ARTICLE
Mohammadali Shahriari, Ali Shahriari, Maryam Khooshideh, Anahita Dehghaninezhad, Arezoo Maleki-Hajiagha, Rana Karimi
PURPOSE OF THE STUDY: Comparing maternal and fetal outcomes in pregnancies associated with single versus double abnormal values in 100 gr oral glucose tolerance test (OGTT). METHODS: This cohort study was performed in Arash women's Hospital, Tehran, Iran from 2019 to 2020. Patients with normal fasting blood sugar (FBS) tests were divided into two groups according to their OGTT results. The first group had a single abnormal value in their OGTT and the second group showed two abnormal values...
December 2023: Journal of Diabetes and Metabolic Disorders
https://read.qxmd.com/read/37908207/a-de-novo-deleterious-phex-variant-without-clinical-features-of-x-linked-hypophosphatemia
#12
Michelle Kayser, Preti Jain, Allen Bale, Thomas O Carpenter
X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. Consequent renal phosphate loss leads to hypophosphatemia, rickets, and progressive bow deformity. Inheritance is X-linked dominant, such that heterozygous females are affected, as well as hemizygous males. A 10-month-old girl was referred for potential treatment for presumed XLH. Amniocentesis, performed following prenatal identification of duodenal atresia, polyhydramnios, and intrauterine growth restriction, revealed a de novo X-chromosomal deletion encompassing 10 genes, including PHEX ...
September 2023: JCEM Case Rep
https://read.qxmd.com/read/37886353/pregnancy-outcomes-following-natural-conception-and-assisted-reproduction-treatment-in-women-who-received-covid-19-vaccination-prior-to-conception-a-population-based-cohort-study-in-china
#13
JOURNAL ARTICLE
Yulu Yang, Yujie Dong, Guojing Li, Biqi Yin, Xiong Tang, Liangfang Jia, Xueke Zhang, Wenjuan Yang, Chao Wang, Xiaoqing Peng, Ying Zhang, Yunxia Cao, Xiaofeng Xu
INTRODUCTION: The coronavirus disease-2019 (COVID-19) pandemic has swept across the world and continues to exert serious adverse effects on vulnerable populations, including pregnant women and neonates. The vaccines available at present were designed to prevent infection from COVID-19 strains and control viral spread. Although the incidence of pregnancy cycle outcomes are not likely to increase patients vaccinated prior to pregnancy compared with unvaccinated patients based on our knowledge of vaccination safety, there is no specific evidence to support this hypothesis...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37827286/-diagnosis-and-management-of-primary-hyperparathyroidism-during-pregnancy-a-systematic-review-and-a-longitudinal-case-study
#14
JOURNAL ARTICLE
Inesse Ait Amara, Diana Bula-Ibula
OBJECTIVE:  There is no specific recommendation for management in pregnant women: the aim of this review, based on a clinical case study, is to clarify its development, complications, risk factor and treatment. METHODS:  A review of the literature was performed by consulting the Pubmed, Cochrane Library, and Science Direct databases. RESULTS:  Primary hyperparathyroidism is defined as excessive production of parathyroid hormone resulting in hypercalcemia...
October 10, 2023: Gynecologie, Obstetrique, Fertilite & Senologie
https://read.qxmd.com/read/37744434/prenatal-mri-diagnosis-and-outcomes-of-abdominal-or-sacrococcygeal-teratomas-and-parasitic-fetuses
#15
JOURNAL ARTICLE
Xu Li, Hui Hui Lin, Ke Fei Hu, Yun Peng
OBJECTIVE: To investigate the MRI findings of fetal abdominal or sacrococcygeal teratomas and parasitic fetuses and analyze the outcomes on the basis of follow-up assessments. METHODS: The MRI data of 60 cases of abdominal or sacrococcygeal masses were examined. The outcomes were followed up and compared with the prenatal MRI diagnoses. RESULTS: The 60 cases included 52 cases of sacrococcygeal teratomas and eight cases of abdominal lesions...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/37726782/report-and-follow-up-on-two-new-patients-with-congenital-mesoblastic-nephroma
#16
JOURNAL ARTICLE
Gregorio Serra, Marcello Cimador, Mario Giuffrè, Vincenzo Insinga, Claudio Montante, Marco Pensabene, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello
BACKGROUND: Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be identified prenatally and associated with polyhydramnios leading to preterm delivery. Effective treatment is surgical in most cases, consisting in total nephrectomy. In literature, very few studies report on the neonatal management of such a rare disease, and even less are those describing its uncommon complications...
September 19, 2023: Italian Journal of Pediatrics
https://read.qxmd.com/read/37722301/electroclinical-features-in-two-novel-strada-patients-and-a-functional-yeast-assay-for-the-validation-of-missense-strada-mutations
#17
JOURNAL ARTICLE
Caterina Ancora, Marco Marchi, Claudia Maria Bonardi, Geppo Sartori, Raffaele Lopreiato, Daniela Zuccarello, Ignazio D'Errico, Margherita Nosadini, Stefano Sartori, Clementina Boniver, Irene Toldo, Leonardo Salviati
Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death. The administration of sirolimus, an mTOR inhibitor, is helpful in controlling seizures in this syndrome. We report the electroclinical phenotype of two novel patients and the development of a yeast model to validate the pathogenicity of missense variants...
November 2023: Pediatric Neurology
https://read.qxmd.com/read/37587715/a-novel-homozygous-clcnkb-variant-an-early-presentation-of-classic-bartter-syndrome-in-a-neonate
#18
Deniz Yaprak, Hüdaverdi Kara, Erhan Calisici, Belma Saygılı Karagöl, Mustafa Altan
BACKGROUND: Bartter syndrome (BS) is a rare congenital salt-losing renal tubular transport disorder, characterized by salt wasting, polyuria, biochemical abnormalities, and acid-base homeostasis imbalance. The syndrome has five different genetic forms, and novel mutations of CLCNKB gene lead to type 3 BS also known as classic BS. In this case, we report clinical and molecular findings from a newborn baby with BS. CASE: A 10-day-old male infant born at 37 weeks of gestation by cesarean section following a pregnancy complicated with polyhydramnios, and fetal distress to a 30-year-old gravida 3, para 3 mother, with a 2500 g birth weight was brought to the pediatric emergency department due to weight loss and jaundice...
October 15, 2023: Birth Defects Research
https://read.qxmd.com/read/37581300/multidisciplinary-management-of-a-large-microcystic-congenital-pulmonary-airway-malformation-case-report-and-literature-review
#19
REVIEW
Jadzia Tin-Tsen Chou, Anastasia Kalantarova, Monika Borkowska-Kłos, Jakub Kornacki, Tomasz Szczapa, Ewa Wender-Ozegowska
INTRODUCTION: Congenital pulmonary airway malformations (CPAMs) are rare sporadic lesions frequently associated with poor fetal prognosis. Type 3 CPAMs are characterized by small hyperechogenic cysts (<5 mm). Hydrops often develops secondarily, and the fetal survival rate is approximately 5% in this setting. CASE PRESENTATION: We present a case of a large type 3 CPAM complicated by fetal hydrops. The lesion was detected at 19 gestational weeks (GW) and confirmed by fetal MRI at 29 GW...
December 2023: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/37554934/a-case-of-tracheotomy-using-the-ex-utero-intrapartum-treatment-exit-procedure-in-cooperation-with-multiple-professions
#20
JOURNAL ARTICLE
Yasunori Asai, Hisayuki Kato, Kanetaka Horibe, Yusuke Hiei, Ichiro Tateya
In this study, we report a case of tracheotomy using the ex utero intrapartum treatment (EXIT) procedure in a fetus that was pointed out as having bilateral giant cervical cysts at prenatal diagnosis and whose postnatal airway occlusion was predicted. The subject was a female aged 35. She was diagnosed with polyhydramnios at 28 weeks of pregnancy. The fetus was found to have a giant cervical cyst before she was referred to the department of obstetrics and gynecology of our hospital. On the second day of 37 weeks of pregnancy, oral tracheal intubation was attempted on the fetus using the EXIT procedure after the caesarean operation, but intubation was difficult resulting in a tracheotomy...
August 2023: Fujita medical journal
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