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About 17,700 results

Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of ...
https://doi.org/10.1177/03000605221126876
The Journal of International Medical Research; Lin YB, Xia B et. al.

Sep 30th, 2022 - Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refractory pulmonary hypertension and pulmonary failure with gastrointestinal, urinary, or cardiac malformations. ACDMPV often progresses rapidly, but no ...

A multicenter, double-blind, randomized, parallel-group, placebo-controlled study to ev...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512971
BMC Medicine; Kinoshita T, Shinoda M et. al.

Sep 27th, 2022 - In vitro drug screening studies have indicated that camostat mesilate (FOY-305) may prevent SARS-CoV-2 infection into human airway epithelial cells. This study was conducted to investigate whether camostat mesilate is an effective treatment for SARS-CoV-2 infection (COVID-19). This was a multicenter, double-blind, randomized, parallel-group, placebo-controlled study. Patients were enrolled if t...

A kinase-independent function of cyclin-dependent kinase 6 promotes outer radial glia e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499540
Proceedings of the National Academy of Sciences of the Un... Wang L, Park JY et. al.

Sep 13th, 2022 - The neocortex, the center for higher brain function, first emerged in mammals and has become massively expanded and folded in humans, constituting almost half the volume of the human brain. Primary microcephaly, a developmental disorder in which the brain is smaller than normal at birth, results mainly from there being fewer neurons in the neocortex because of defects in neural progenitor cells...

Annular pancreas.
https://doi.org/10.1093/bjs/znac167
The British Journal of Surgery; Yakoubi C, Atri S et. al.

Sep 10th, 2022 - Annular pancreas.|2022|Yakoubi C,Atri S,Maghrebi H,Kacem MJ,|abnormalities,surgery,diagnosis,surgery,

A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consa...
https://doi.org/10.1016/j.ejmg.2022.104599
European Journal of Medical Genetics; Bakar A, Ullah A et. al.

Sep 7th, 2022 - Polydactyly is a human inherited disorder caused by to anomalies in the genes involved in autopod development. The disorder segregates in both autosomal recessive and autosomal dominant form. Up till now, eleven genes causing non-syndromic polydactyly, have been identified. This includes ZNF141, GLI3, ZRS in LMBR1, MIPOL1, PITX1, IQCE, GLI1, FMA92A1, KIAA0825, STKLD1, and DACH1. In the present ...

Clinical and genetic approach in the characterization of newborns with anorectal malfor...
https://doi.org/10.1080/14767058.2020.1854213
The Journal of Maternal-fetal & Neonatal Medicine : the O... Schierz IAM, Piro E et. al.

Sep 6th, 2022 - This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and...

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446770
BMC Pediatrics; Shao J, Liu Y et. al.

Sep 6th, 2022 - Brachydactyly type B is an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails and can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is the most severe form of brachydactyly and is caused by truncating variants in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene. Here, we report a five-generation ...

Intraoperative Fenestration of Frozen Elephant Trunk (FET) and Total Arch Replacement f...
https://doi.org/10.1532/hsf.4883
The Heart Surgery Forum; Zhang J, Kang Z et. al.

Sep 3rd, 2022 - Total arch replacement (TAR) and the frozen elephant trunk (FET) routinely are performed to treat aortic dissection. When aortic dissection combines with the aberrant right subclavian artery (aRSA), routine TAR+FET will occlude the ostium of aRSA. But there is no consensus regarding the optimal surgical strategy to revascularize the aRSA. We seek an uncomplicated and less time-intensive way to ...

Persistent trigeminal artery associated with an occipital arteriovenous malformation: a...
https://doi.org/10.1007/s00276-022-03003-9
Surgical and Radiologic Anatomy : SRA; Rodriguez-Hernandez LA, Martinez P et. al.

Sep 3rd, 2022 - Persistent trigeminal artery or persistent primitive trigeminal artery (PTA) is the most common carotid-basilar anastomosis in both cadaveric and live patient studies, followed by persistent hypoglossal and persistent otic arteries. Approximately 0.2% of all angiographies reported this finding. We present the case of a 21-year-old male who arrived at the emergency department with tonic‒clonic s...

Non-recurrent laryngeal nerve and aberrant subclavian artery in thyroidectomy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438105
BMJ Case Reports; Lee YK, Yang W et. al.

Aug 30th, 2022 - Non-recurrent laryngeal nerve and aberrant subclavian artery in thyroidectomy.|2022|Lee YK,Yang W,Ghedia R,Kim D,|surgery,abnormalities,diagnostic imaging,surgery,adverse effects,

Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 year...
https://doi.org/10.1007/s00383-022-05201-3
Pediatric Surgery International; Yano K, Harumatsu T et. al.

Aug 28th, 2022 - Mayer-Rokitansky-Küster-Häuser syndrome (MRKH) usually presents with primary amenorrhea after puberty. The present study clarified the clinical features of MRKH diagnosed at under 16 years old. We conducted a questionnaire survey to determine the status of MRKH in Japan. Twenty-one MRKH patients were enrolled, and the patient background and clinical features were analyzed. The median age at the...

Multislice Spiral Computer Tomography Findings of Simple Congenital Middle Ear Malforma...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365615
Contrast Media & Molecular Imaging; Kang C, Han L et. al.

Aug 23rd, 2022 - Simple congenital middle ear malformations (SCMEMs) are a group of congenital ear malformations. The study aims to analyze the multi-slice spiral computer tomography (MSCT) manifestations of normal ears and SCMEM ears. This study aimed to investigate the MSCT manifestations of normal ears and SCMEM ears and to evaluate the relationship between the SCMEM and the tympanic segment of the FNC pathw...

Rescue ross procedure and mitral valve repair on a low birth weight preterm neonate.
https://doi.org/10.1111/jocs.16865
Journal of Cardiac Surgery; Garufi L, di Candia A et. al.

Aug 23rd, 2022 - Although mid- and long-term outcomes after the Ross procedure for aortic valve disease have been increasingly improving over the years, this is still a rather challenging operation in neonates and small children. This is particularly true for patients with associated congenital heart defects and critical clinical conditions. Herein we describe the application of this procedure as a rescue opera...

Right Heart Failure in a Patient with Critical Pulmonary Stenosis, Absent Right Pulmona...
https://doi.org/10.12659/AJCR.937305
The American Journal of Case Reports; Iturriagagoitia A, Vanderheyden M et. al.

Aug 18th, 2022 - BACKGROUND Unilateral absence of a pulmonary artery (UAPA) is a rare congenital cardiovascular malformation. More than half of UAPA cases have other cardiac lesions such as tetralogy of Fallot or septal defects. Clinical manifestations are diverse and range from heart failure after birth to an incidental finding on chest imaging during adulthood. Whereas early surgical revascularization is reco...

Current management of the urachal anomalies (UA). Lessons learned from the clinical pra...
https://doi.org/10.1007/s00383-022-05194-z
Pediatric Surgery International; Perez D, Neeman B et. al.

Aug 16th, 2022 - It has been suggested that symptomatic UA requires surgical excision. However, the management of asymptomatic urachus is still controversial. We aimed to evaluate the clinical presentation, the efficacy of current modalities used, and postoperative pathology in patients with UA. We have performed a retrospective review of all patients diagnosed with UA and treated surgically or conservatively o...

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375425
BMC Pediatrics; Tao DY, Niu HH et. al.

Aug 14th, 2022 - Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported. Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature...

Sleep disturbance is a common feature of Kabuki syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474613
American Journal of Medical Genetics. Part A; Rapp T, Kalinousky AJ et. al.

Aug 6th, 2022 - Kabuki syndrome (KS) is a rare epigenetic disorder caused by heterozygous loss of function variants in either KMT2D (90%) or KDM6A (10%), both involved in regulation of histone methylation. While sleep disturbance in other Mendelian disorders of the epigenetic machinery has been reported, no study has been conducted on sleep in KS. This study assessed sleep in 59 participants with KS using a va...

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with ov...
https://doi.org/10.1016/j.ejmg.2022.104572
European Journal of Medical Genetics; Jones G, Johnson K et. al.

Aug 3rd, 2022 - Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance w...

Anorectal malformation associated with delayed presentation of right Bochdalek type dia...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330321
BMJ Case Reports; Fourie N, De Vos C et. al.

Jul 27th, 2022 - Patients with an imperforate anus frequently present with congenital abnormalities, most commonly as a component of VACTERL (Vertebral anomalies, Anorectal malformations, Cardiac defect, Tracheo-Oesophageal fistula and Oesophageal atresia, Renal anomalies, and Limb defects) anomalies. It is, however, unusual for infants to present with a concurrent anorectal malformation (ARM) and a Bochdalek t...

Intralobular pulmonary sequestration in the middle lobe supplied by a right internal ma...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327363
BMC Pulmonary Medicine; Gao R, Jiang L et. al.

Jul 27th, 2022 - Pulmonary sequestration (PS) is a rare congenital malformation that is more common in the left lower lobe, and the thoracic aorta is the most common arterial supply. We describe a case of a 67-year-old man with a chief complaint of intermittent cough and hemoptysis who had been diagnosed by multidetector computed tomography angiography with right middle lobe intralobular pulmonary sequestration...