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About 17,248 results

Prenatal diagnosis of diphallia in association with bladder exstrophy: a case report.
https://doi.org/10.1186/s12884-022-04746-4 10.1002/aorn.12697 10.1016/S0090-4295(02)01874-5 10.1016/S0022-5347(17)58603-6 10.1016/j.urology.2019.09.005 10.1097/AOG.0000000000000327
BMC Pregnancy and Childbirth; Vafaei H, Roozmeh S et. al.

May 25th, 2022 - Penile duplication or diphallia is a rare congenital anomaly with unclear pathophysiological cause. Most cases of diphallia are reported postnatally; however, today with the use of a high-resolution ultrasound device, in-uterine diagnosis of many congenital anomalies is possible. Herein we report a multiparous mother at 25 weeks of gestation who referred due to an abnormal cystic structure prot...

Functional Amblyopia in Segmental Optic Nerve Hypoplasia.
https://doi.org/10.1016/j.ophtha.2021.11.010
Ophthalmology Fortes BH, Brodsky MC

May 23rd, 2022 - Functional Amblyopia in Segmental Optic Nerve Hypoplasia.|2022|Fortes BH,Brodsky MC,|diagnosis,abnormalities,abnormalities,

Right top pulmonary vein is a venous anomaly of which surgeons should be aware in subca...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9121563
World Journal of Surgical Oncology; Sato Y, Tanaka Y et. al.

May 20th, 2022 - A right top pulmonary vein (RTPV) that crosses behind the right main or intermediate bronchus is a variation of the superior posterior pulmonary vein in the right upper lobe. Damage or ligation of this abnormal vessel can lead to massive intraoperative bleeding and serious complications, such as congestion of the posterior segment of the right upper lobe and cardiac tamponade. Subcarinal lymph ...

Anomalous origin of the left pulmonary artery from the ascending thoracic aorta and a r...
https://doi.org/10.1136/bcr-2021-247070
BMJ Case Reports; Santos JG, Ferreira F et. al.

May 12th, 2022 - A female patient in her early 30s, with a medical history of pulmonary arterial hypertension associated with congenital heart disease, lost to follow-up, was referred to a pulmonary hypertension reference centre. The patient presented at a WHO functional class of II in a low-risk category. A transthoracic echocardiogram demonstrated severe pulmonary hypertension with right ventricular dysfuncti...

Keratosis Pilaris in an Ovarian Cancer Patient Treated with Bevacizumab and Doxorubicin.
https://www.ncbi.nlm.nih.gov/pubmed/35532769
Skinmed Lopez CG, Huang S et. al.

May 10th, 2022 - Keratosis Pilaris in an Ovarian Cancer Patient Treated with Bevacizumab and Doxorubicin.|2022|Lopez CG,Huang S,Hsu S,|adverse effects,abnormalities,drug therapy,

Intestinal Atresias.
https://doi.org/10.1542/pir.2021-005177
Pediatrics in Review; Rich BS, Bornstein E et. al.

May 1st, 2022 - Intestinal atresia is a form of congenital bowel obstruction that requires operative repair in the early neonatal period. Duodenal atresia and jejunoileal (JI) atresia are appropriately seen as distinct entities. Both can be suspected with fetal imaging, which can assist with prenatal counseling of families. Duodenal atresia is more commonly associated with comorbidities, whereas JI atresia is ...

Aberrant Right Subclavian Artery with Kommerell's Diverticulum and Patent Ductus Arteri...
https://doi.org/10.1532/hsf.4455
The Heart Surgery Forum; Xiongqiu Z, Li T et. al.

Apr 30th, 2022 - A one-month-old neonate presented to the hospital with dyspnea and bloody stool, which happened suddenly and progressed over two days. Computed tomography and three-dimensional reconstruction of the trachea and heart was done, demonstrating significant trachea stenosis, aberrant right subclavian artery arising from Kommerell's diverticulum, and patent ductus arteriosus. Reconstruction of the ab...

Bardet-Biedl syndrome: a case series.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052695
Journal of Medical Case Reports; Elawad OAMA, Dafallah MA et. al.

Apr 29th, 2022 - Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-...

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia...
https://doi.org/10.1016/j.nmd.2022.03.007
Neuromuscular Disorders : NMD; Kamien B, Clayton JS et. al.

Apr 29th, 2022 - Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function. Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic...

Rare case of mesocardia with ostium secundum ASD and double IVC.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039350
BMJ Case Reports; Kumar S, Nandyal SR et. al.

Apr 27th, 2022 - We report an extremely rare case of mesocardia with double inferior vena cava (IVC) in this case report. The patient's associated atrial septal defect (ASD) with left to right shunt leading to pulmonary congestion and recurrent episodes of pneumonia was the leading diagnosis for which care was sought at our hospital. The diagnoses of these rare congenital cardiac anomalies were uncovered only a...

Systematic Review and Meta-Analysis of Outcomes After Operative Treatment of Aberrant S...
https://doi.org/10.1016/j.ejvs.2022.02.027
European Journal of Vascular and endoVascular Surgery : T... Konstantinou N, Antonopoulos CN et. al.

Apr 24th, 2022 - To synthesise and present all available evidence regarding the surgical treatment of patients with aberrant subclavian artery (aSA) pathologies during the last 30 years. The study also aimed to create a checklist of suggested reporting items to help increase reporting homogeneity. A systematic search of medical databases was performed to identify all studies published between 1990 and 2020 repo...

Stylohyoid Eagle syndrome and EXTracranial INternal Carotid arTery pseudoaneurysms (EXT...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024270
BMJ Case Reports; Sultan S, Acharya Y et. al.

Apr 23rd, 2022 - We report a 4-year delay in diagnosing a combined carotid arterial and jugular venous styloid compression. The symptoms, which included dull neck pain, dizziness, intermittent diplopia, tinnitus, severe incapacitating right side headache and eye bloating, were challenging and wrongly attributed initially to various facial neuralgias. The patient presented during COVID-19 pandemic and was labell...

Endothelial progenitor cells stimulate neonatal lung angiogenesis through FOXF1-mediate...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019054
Nature Communications; Wang G, Wen B et. al.

Apr 21st, 2022 - Pulmonary endothelial progenitor cells (EPCs) are critical for neonatal lung angiogenesis and represent a subset of general capillary cells (gCAPs). Molecular mechanisms through which EPCs stimulate lung angiogenesis are unknown. Herein, we used single-cell RNA sequencing to identify the BMP9/ACVRL1/SMAD1 pathway signature in pulmonary EPCs. BMP9 receptor, ACVRL1, and its downstream target gene...

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.
https://doi.org/10.1016/j.ejmg.2022.104512
European Journal of Medical Genetics; Yamada M, Suzuki H et. al.

Apr 20th, 2022 - Oral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate ...

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995680
Pediatric Rheumatology Online Journal; Broser P, von Mengershausen U et. al.

Apr 13th, 2022 - Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I interferon (IFN) signaling. In SGMRT1, IFIH1 mutations confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinfla...

What is New in Pediatric Orthopaedic Foot and Ankle.
https://doi.org/10.1097/BPO.0000000000002134
Journal of Pediatric Orthopedics; Tileston K, Baskar D et. al.

Apr 12th, 2022 - This paper aims to report on the last 5 years of relevant research on pediatric foot and ankle pathology with specific focus on clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. The Browzine platform was used to review the table of contents for all papers publ...

Endometrial organoids derived from Mayer-Rokitansky-Küster-Hauser syndrome patients pro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118093
Disease Models & Mechanisms; Brucker SY, Hentrich T et. al.

Apr 9th, 2022 - The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current...

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118116
American Journal of Human Genetics; Coolen M, Altin N et. al.

Apr 8th, 2022 - Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated in PCHs, a large proportion of affected individuals remains undiagnosed. We describe four families with children presenting with severe neonatal br...

Variants in genes related to development of the urinary system are associated with Maye...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8969342
Human Genomics; Chu C, Li L et. al.

Apr 2nd, 2022 - Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was ...

Venous vascular ring-A rare congenital venous anomaly in a patient of tetralogy of Fallot.
https://doi.org/10.1111/jocs.16450
Journal of Cardiac Surgery; Singh R, Ojha V et. al.

Apr 2nd, 2022 - We hereby present a case of tetralogy of Fallot with duplicated brachiocephalic vein having a preaortic and a subaortic component. We aim to highlight the role of computed tomography angiography in identifying these rare associations of tetralogy of Fallot.