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About 16,043 results

Sprengel deformity associated with winging of scapula, vertebral fusion, rib fusion and...
https://doi.org/10.1136/bcr-2021-246815
BMJ Case Reports; Pai SN, Kumar MM

Oct 15th, 2021 - Sprengel deformity associated with winging of scapula, vertebral fusion, rib fusion and spina bifida occulta.|2021|Pai SN,Kumar MM,|diagnostic imaging,surgery,abnormalities,diagnostic imaging,surgery,abnormalities,complications,diagnostic imaging,surgery,

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polyc...
https://doi.org/10.1073/pnas.2106770118
Proceedings of the National Academy of Sciences of the Un... Getwan M, Hoppmann A et. al.

Sep 23rd, 2021 - Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodys...

Brachydactyly in Pseudopseudohypoparathyroidism.
https://doi.org/10.1016/j.mayocp.2021.05.009
Mayo Clinic Proceedings; Csizmar CM, Shah M

Sep 6th, 2021 - Brachydactyly in Pseudopseudohypoparathyroidism.|2021|Csizmar CM,Shah M,|etiology,abnormalities,abnormalities,diagnosis,

Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414671
BMC Pediatrics; Kim JH, Kang J et. al.

Sep 5th, 2021 - A significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importan...

Successful endovascular therapy for an adolescent patient with cerebral venous sinus th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8415943
Medicine Peng T, Zhang Z et. al.

Sep 4th, 2021 - Cerebral venous sinus thrombosis associated with protein S deficiency is rare in adolescent patients and has high disability and fatality.Patient concerns: A 15-year-old male student presented in the hospital with sudden headache, nausea, and vomiting and was diagnosed with protein S deficiency by gene testing. Cerebral venous sinus thrombosis due to protein S deficiency was diagnosed in this a...

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539
Human Genetics; Melo US, Piard J et. al.

Aug 27th, 2021 - During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung malformations is a major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome...

Electroencephalographic evidence of gray matter lesions among multiple sclerosis patien...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376360
Medicine Salim AA, Ali SH et. al.

Aug 21st, 2021 - This study aimed to investigate evidence of gray matter brain lesions in multiple sclerosis (MS) patients by evaluating the resting state alpha rhythm of brain electrical activity.The study included 50 patients diagnosed with MS recruited from the MS clinic with 50 age and gender-matched control participants. The study investigated parameters of posterior dominant rhythm (PDR) in the electroenc...

Rectal inflammatory myofibroblastic tumor: Case report and literature review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376367
Medicine Oh HH, Joo YE

Aug 21st, 2021 - Rectal inflammatory myofibroblastic tumor (IMT) is an extremely rare mesenchymal tumor characterized by a mixture of spindle-shaped myofibroblasts or fibroblasts and inflammatory infiltration of lymphocytes and plasma cells. To date, only 8 cases of rectal IMT have been reported. Herein, we report an additional case of rectal IMT in a 28-year-old woman. A 28-year-old woman presented with abdomi...

Single-cell transcriptional profiling reveals the heterogeneity in embryonal rhabdomyos...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8341243
Medicine Hong B, Xia T et. al.

Aug 17th, 2021 - Rhabdomyosarcoma is the most common soft tissue sarcoma in children, and embryonal rhabdomyosarcoma is the most typical type of rhabdomyosarcoma. The heterogeneity, etiology, and origin of embryonal rhabdomyosarcoma remain unknown.After obtaining the gene expression data of every cell in the tumor tissue by single-cell RNA sequencing, we used the Seurat package in R studio for quality control, ...

Anal atresia as the diagnostic clue in VACTERL association: A first-trimester case report.
https://doi.org/10.1111/jog.14974
The Journal of Obstetrics and Gynaecology Research; Wang Y, Dai X et. al.

Aug 9th, 2021 - Anal atresia is the most common malformation occurring in VACTERL association, but it is difficult to diagnose antenatally. We herein present a case of fetal anal atresia in VACTERL association diagnosed by ultrasonography and supported by autopsy. This case emphasizes the clues to ultrasonographic diagnosis of anal atresia at 11-13+6 weeks of gestation, promoting increased awareness of VACTERL...

Peripartum Diagnosis of Currarino Syndrome With Anterior Sacral Meningocele: A Case Rep...
https://doi.org/10.1213/XAA.0000000000001506
A&A Practice; Neumann KE, Pappas H et. al.

Aug 5th, 2021 - Neurologic conditions without prenatal optimization can pose anesthetic and obstetrical challenges. We present a case of Currarino syndrome; an autosomal dominant triad of agenesis of the sacrum, anterior sacral meningocele (ASM) with sacral teratomas, and anorectal stenosis; diagnosed during pregnancy; and the subsequent anesthetic considerations. The location, size, and risk of rupture of the...

Progressive chronic SARS-CoV-2-positive giant cell myoendocarditis with atrial standsti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426732
ESC Heart Failure; Blagova O, Ainetdinova D et. al.

Jul 31st, 2021 - Giant cell myocarditis (GCM) is a rare condition. Its association with SARS-CoV-2 has not been described before. The 46-year-old female patient was admitted to the clinic on September 2020. She had 7 year adrenal insufficiency history and infarct-like debut of myocardial disease in November 2019. After COVID-19 in April 2020, cardiac disease progressed. The examination showed low QRS voltage, Q...

Diagnosis and Management of Suture-Related Concerns of the Infant Skull.
https://doi.org/10.1016/j.pcl.2021.04.002
Pediatric Clinics of North America; Hersh DS, Bookland MJ et. al.

Jul 13th, 2021 - The cranial fontanelles and sutures have several benign variations, including most cases of "early" or "late" closure of the anterior fontanelle, bathrocephaly, overriding sutures, and benign metopic ridging. However, recognizing true craniosynostosis and referring the patient to a craniofacial specialist in a timely fashion are imperative, as minimally invasive options can be offered to most p...

Right apical-posterior segmentectomy with abnormal anterior segmental bronchus and arte...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258948
Journal of Cardiothoracic Surgery; Zhang X, Lin G et. al.

Jul 8th, 2021 - Displaced anterior segmental bronchus and pulmonary artery is extremely rare. A keen knowledge of such variations is required in the field of pulmonary segmentectomy, for unawareness of the structural variation could lead to intra- and postoperative complications. A 50-year-old female presented to our department with suspected lung adenocarcinoma. Preoperative 3-dimensional computed tomographic...

Variations in origin of the superior thyroid artery: an update for the head and neck su...
https://doi.org/10.1308/rcsann.2021.0007
Annals of the Royal College of Surgeons of England; Shaw S, Maharaj K et. al.

Jul 1st, 2021 - Head and neck surgeons must have a thorough knowledge of head and neck vascular anatomy and its variations. This case report documents a variation in the superior thyroid artery encountered during a neck dissection and discusses the surrounding literature. A 55-year-old female with squamous cell carcinoma of the tongue underwent a partial glossectomy, right level I-IV neck dissection and recons...

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254011
Investigative Ophthalmology & Visual Science; da Palma MM, Igelman AD et. al.

Jun 30th, 2021 - The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome. We conducted a retrospective, observational, multicenter, study on 46 eyes of 23 subjects with Alagille syndrome. We reviewed systemic and ophthalmologic data extracted from medical records, color fundus photography, fundus autofluorescence, optical coherence tomograp...

Young stroke due to pulmonary arteriovenous malformation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217933
BMJ Case Reports; Sen G, Lwin MT et. al.

Jun 23rd, 2021 - Young patients presenting with cryptogenic stroke should be investigated for cardiac and extra-cardiac sources of emboli. We present a patient who was investigated for a cardiac source of emboli, following multiple ischaemic strokes and migraine with aura over a period of 17 years. The events were initially thought to be related to a patent foramen ovale (PFO) on bubble contrast echocardiograph...

Diagnosis of Annular Pancreas With Congenital Duodenal Stenosis by Endoscopic Ultrasoun...
https://doi.org/10.1097/MPG.0000000000003192
Journal of Pediatric Gastroenterology and Nutrition; Yabe K, Kouchi K et. al.

Jun 7th, 2021 - Diagnosis of Annular Pancreas With Congenital Duodenal Stenosis by Endoscopic Ultrasound in a Paediatric Patient.|2021|Yabe K,Kouchi K,Takenouchi A,Matsuoka A,Kudou W,|diagnostic imaging,etiology,diagnostic imaging,abnormalities,diagnostic imaging,diagnostic imaging,

Counterclockwise Craniofacial Distraction Osteogenesis.
https://doi.org/10.1016/j.cps.2021.02.006
Clinics in Plastic Surgery; Hopper RA, Wang HD et. al.

May 31st, 2021 - Anatomic studies have identified that patients with Treacher Collins syndrome and some cases of bilateral craniofacial microsomia are characterized by multilevel airway obstruction as a result of hypoplasia and clockwise rotation of the maxillomandibular complex. Patients often remain tracheostomy-dependent despite multiple airway surgeries. Counterclockwise craniofacial distraction osteogenesi...

Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants...
https://doi.org/10.1016/j.cps.2021.02.008
Clinics in Plastic Surgery; Paternoster G, Haber SE et. al.

May 31st, 2021 - The introduction of distraction osteogenesis to frontofacial monobloc advancement has increased the safety of the procedure. One hundred forty-seven patients with syndromic craniosynostosis underwent frontofacial monobloc advancement using 4 internal distractors. Twenty-five were aged 18 months or less. Ten patients presented with a tracheostomy, 5 (50%) were decannulated after surgery, and 3 o...