×
About 8,918 results

Postaxial hypoplasia of the lower extremity associated with congenital dislocation of t...
https://doi.org/10.1097/MD.0000000000029283
Medicine Charles-Lozoya S, Ruíz-Zenteno G et. al.

Jun 28th, 2022 - Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major challenge, which is more complicated when PHLE is associated with congenital dislocation of the patella. : Herein, we present the case of an 8-year-old female patient with evident length inequality in her left lower extremity and inab...

Congenital Cytomegalovirus Knowledge, Practices, and Beliefs Among Primary Care Physici...
https://doi.org/10.1177/21501319221106880
Journal of Primary Care & Community Health; Pesch MH, Muldoon KM

Jun 28th, 2022 - Congenital cytomegalovirus (cCMV) affects 1 in every 200 United States infants, at present there are 9 states which mandate newborn cCMV screening. With more infants being diagnosed, more children will need continuing care from providers who are knowledgeable about cCMV. To examine pediatric provider knowledge, practices, and beliefs around cCMV. Primary care and newborn hospitalist pediatricia...

Obstructed hemivagina with ipsilateral renal and urinary tract anomaly presenting as an...
https://doi.org/10.1136/bcr-2022-249959
BMJ Case Reports; Mendoza KIR, Nicer DPC

Jun 28th, 2022 - Obstructed hemivagina with ipsilateral renal anomaly (OHVIRA) is a rare congenital genitourinary defect with a triad of unilateral vaginal obstruction, uterine anomaly and ipsilateral renal agenesis. This paper reports an unusual presentation of OHVIRA, with our patient experiencing severe abdominal pain from a left tubo-ovarian abscess that is contralateral to the side of the vaginal outflow o...

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.
https://doi.org/10.1186/s12902-022-01077-5 10.7861/clinmedicine.17-3-270 10.1016/j.beem.2018.05.004 10.1007/s002230001201 10.1111/j.1365-2265.2008.03259.x 10.1016/S0889-8529(18)30362-1 10.1038/gim.2015.30 10.1210/jc.2017-01606 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A 10.1093/hmg/dds105 10.1172/JCI118987 10.1210/jc.2008-2430 10.1172/JCI118335 10.1097/00019606-200112000-00006 10.1046/j.1365-2265.2003.01696.x 10.1016/S0140-6736(75)92736-1
BMC Endocrine Disorders; Sumida A, Iizuka K et. al.

Jun 23rd, 2022 - Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease, which requires differential diagnosis from relatively common primary hyperparathyroidism (PHPT) in order to avoid unnecessary surgery. A 16-year-old female had been followed by the department of psychosomatic medicine at our institution. Throughout the follow-up period, her plasma calcium levels were high, plasma P...

Non-Wilms' renal tumors in children: experience with 139 cases treated at a single center.
https://doi.org/10.1186/s12894-022-01042-3 10.1111/j.1365-2559.2008.03110.x 10.1016/j.jss.2010.03.061 10.1007/s00268-011-1410-2 10.5152/tud.2018.70120 10.1002/pbc.22922 10.1200/JCO.2004.00.8110 10.1111/j.1442-2042.2010.02588.x 10.1097/00125480-200103000-00006 10.1002/pbc.26437 10.1016/S1470-2045(07)70241-3 10.1016/j.jpedsurg.2008.02.077 10.2350/10-09-0902-OA.1 10.1016/j.jpedsurg.2013.10.005 10.1016/j.earlhumdev.2010.08.018 10.1097/PAS.0000000000000816 10.1038/modpathol.2013.242 10.1093/annonc/mdt215 10.2214/AJR.17.17973 10.1016/j.prp.2016.08.008 10.1097/MD.0000000000011994 10.1016/S1470-2045(07)70276-0 10.4081/rt.2012.e6 10.1016/S0022-5347(05)00671-3 10.1002/pbc.27450 10.1155/2013/315170 10.1016/j.ijrobp.2012.04.023
BMC Urology; Fang YW, Song HC et. al.

Jun 23rd, 2022 - Pediatric non-Wilms renal tumors (NWRTs), which comprise a small proportion of renal tumors, are a heterogeneous group of neoplasms with variable malignant potential, mortality, and response to treatment. We performed this study to determine the clinical characteristics, management and prognosis of children with Pediatric NWRTs. Medical records of all patients (n = 139) treated for NWRTs over a...

Detection of antiviral drug resistance in patients with congenital cytomegalovirus infe...
https://doi.org/10.1186/s12879-022-07537-6 10.1016/j.jpeds.2018.04.043 10.1002/rmv.544 10.1002/rmv.535 10.1186/s13052-017-0358-8 10.1016/S0022-3476(03)00192-6 10.1056/NEJMoa1404599 10.1128/CMR.00009-10 10.1016/j.ijid.2020.06.087 10.1016/j.antiviral.2020.104711 10.1128/JCM.01605-13 10.1002/rmv.574 10.1128/JCM.01515-06 10.1093/bioinformatics/bty191 10.1093/bioinformatics/btp352 10.1093/nar/gks918 10.1016/j.antiviral.2009.10.004 10.1158/0008-5472.CAN-17-0337 10.1128/AAC.00186-10 10.1016/j.antiviral.2021.105123 10.1016/j.jcv.2016.04.017 10.3389/fmicb.2016.01317 10.1371/journal.pone.0219701 10.1186/s12859-021-04089-5 10.1111/j.1399-0012.2012.01681.x 10.1006/viro.1998.9299 10.1128/AAC.00334-11 10.1093/infdis/jiaa462 10.1128/AAC.49.7.2710-2715.2005 10.1016/S0002-9394(01)01161-8 10.1016/j.jcv.2012.01.006 10.3928/01913913-20161003-02 10.1016/j.jcv.2012.01.020 10.1016/j.jcv.2013.04.004 10.1186/s12887-017-0933-6 10.1016/j.jcv.2015.01.015
BMC Infectious Diseases; Torii Y, Horiba K et. al.

Jun 23rd, 2022 - Congenital human cytomegalovirus (cCMV) infection can cause sensorineural hearing loss and neurodevelopmental disabilities in children. Ganciclovir and valganciclovir (GCV/VGCV) improve long-term audiologic and neurodevelopmental outcomes for patients with cCMV infection; however, antiviral drug resistance has been documented in some cases. Long-read sequencing can be used for the detection of ...

Gut dysbiosis and the clinical spectrum in anti-Ro positive mothers of children with ne...
https://doi.org/10.1080/19490976.2022.2081474
Gut Microbes; Clancy RM, Marion MC et. al.

Jun 16th, 2022 - Anti-SSA/Ro antibodies, while strongly linked to fetal cardiac injury and neonatal rash, can associate with a spectrum of disease in the mother, ranging from completely asymptomatic to overt Systemic Lupus Erythematosus (SLE) or Sjögren's Syndrome (SS). This study was initiated to test the hypothesis that the microbiome, influenced in part by genetics, contributes to disease state. The stool mi...

Fecal microbiota in congenital chloride diarrhea and inflammatory bowel disease.
https://doi.org/10.1371/journal.pone.0269561
PloS One; Wedenoja S, Saarikivi A et. al.

Jun 10th, 2022 - Subjects with congenital chloride diarrhea (CLD; a defect in solute carrier family 26 member 3 (SLC26A3)) are prone to inflammatory bowel disease (IBD). We investigated fecal microbiota in CLD and CLD-associated IBD. We also tested whether microbiota is modulated by supplementation with the short-chain fatty acid butyrate. We recruited 30 patients with CLD for an observational 3-week follow-up ...

Research on the expression of elastin in the conjoint fascial sheath for the correction...
https://doi.org/10.1186/s12886-022-02469-w 10.1097/IOP.0000000000001660 10.1080/028443102753718032 10.1080/028443102753718023 10.1097/SAP.0000000000001657 10.1097/SCS.0000000000007693 10.1016/S0065-3233(05)70013-9 10.1007/s00266-017-0840-0 10.1016/j.disamonth.2016.10.004 10.1007/s00266-003-0127-5 10.1016/j.fsc.2005.06.005 10.1016/j.bjoms.2020.04.044 10.1007/s00417-014-2848-3 10.1097/00006534-198602000-00004 10.1016/0002-9394(76)90785-6 10.1097/scs.0b013e3181577b2e 10.1007/s00266-019-01382-w 10.1111/aos.14284
BMC Ophthalmology; Liu Z, Jia X et. al.

Jun 9th, 2022 - To investigate the expression of elastin in the conjoint facial sheath (CFS) in patients with severe unilateral congenital blepharoptosis in different age groups. Twenty-seven cases of severe unilateral congenital blepharoptosis (27 eyes) were treated with CFS + LM complex suspension from January 2020 to July 2020. Within that sample, 9 patients were over 18 years old, 9 patients were 13 to 17 ...

FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
https://doi.org/10.1097/MPG.0000000000003470
Journal of Pediatric Gastroenterology and Nutrition; MacFarland SP, Xie H et. al.

May 28th, 2022 - Juvenile polyposis syndrome (JPS) is a childhood polyposis syndrome with up to a 50% lifetime risk of gastrointestinal cancer. Germline pathogenic variants in BMPR1A and SMAD4 are responsible for around 40% of cases of JPS, but for the majority of individuals, the underlying genetic cause is unknown. We identified a family for which polyposis spanned four generations, and the proband had a clin...

Endoscopic Ear Surgery for Congenital Cholesteatoma in Children.
https://doi.org/10.5152/iao.2022.21302
The Journal of International Advanced Otology; Choi Y, Kwak MY et. al.

May 25th, 2022 - Endoscopic ear surgery is a promising technique for removing congenital cholesteatoma in children. It can provide greater visual access to hidden areas of the middle ear and facilitate middle-ear manipulation. This study compares a single-center experience in manag- ing congenital cholesteatoma with an endoscopic approach with that in managing congenital cholesteatoma with a conventional micros...

Retrospective identification of congenital cytomegalovirus infection using dried blood ...
https://doi.org/10.1016/j.jcv.2022.105186
Journal of Clinical Virology : the Official Publication O... Shahar-Nissan K, Oikawa Tepperberg M et. al.

May 24th, 2022 - Congenital cytomegalovirus (cCMV) is the most common congenital infection in children, with a potential to cause neurodevelopmental delay and sensorineural hearing loss. Not only are most infected newborns asymptomatic at birth, even those who are symptomatic are not always diagnosed in time. Newborn dried blood-spot (DBS) specimens collected routinely at birth, have been recently used for retr...

Pre- and postnatal brain magnetic resonance imaging in congenital cytomegalovirus infec...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118604
BMC Pediatrics; Vanbuggenhout L, Aertsen M et. al.

May 19th, 2022 - Congenital cytomegalovirus infection (cCMV) is the most common known viral cause of neurodevelopmental delay in children. The risk of severe cerebral abnormalities and neurological sequelae is greatest when the infection occurs during the first trimester of pregnancy. Pre- and postnatal imaging can provide additional information and may help in the prediction of early neurological outcome. This...

Characteristics and Prognosis of Patients With Fibromuscular Dysplasia in a Population ...
https://doi.org/10.1016/j.amjcard.2022.04.007
The American Journal of Cardiology; Combaret N, Liabot Q et. al.

May 14th, 2022 - Spontaneous coronary artery dissection (SCAD) and fibromuscular dysplasia (FMD) are pathologies that appear to be closely related. This study compares the characteristics of the FMD population to the non-FMD population in a SCAD cohort. It thus assesses the involvement of the FMD phenotype in a SCAD population. From the data of the French DISCO registry, we included patients with a diagnosis of...

Cytomegalovirus variation among newborns treated with valganciclovir.
https://doi.org/10.1016/j.antiviral.2022.105326
Antiviral Research; Dobbins GC, Kimberlin DW et. al.

May 4th, 2022 - Congenital cytomegalovirus (cCMV) infection is the leading non-genetic cause of long-term neurological and sensory sequelae, the most common being sensorineural hearing loss (SNHL). Standard therapy for infants with symptomatic cCMV is valganciclovir for six months. However, little is known about the effects of antiviral therapy on CMV diversity while patients are on treatment. In this study, C...

Acute Limb Ischemia in Cogan Syndrome.
https://doi.org/10.12659/AJCR.935929
The American Journal of Case Reports; Mohseni MM

May 1st, 2022 - BACKGROUND Cogan syndrome is a rare autoimmune disorder associated most frequently with ocular, vestibular, and auditory involvement from presumed small vessel vasculitis. Cogan syndrome, in a significant proportion of patients, can progress to systemic symptoms, including gastrointestinal, neurologic, and musculoskeletal manifestations. Large-vessel involvement has also been described in some ...

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis...
https://doi.org/10.1053/j.gastro.2022.02.021
Gastroenterology Boland CR, Idos GE et. al.

Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis...
https://doi.org/10.1016/j.gie.2022.02.044
Gastrointestinal Endoscopy; Boland CR, Idos GE et. al.

Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053812
PloS One; Ueda A, Osawa M et. al.

Apr 30th, 2022 - Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome. The relation of CCHS to SUID cases was investigated by extensive genotyping of PHOX2B. We analyzed 93 DNA samples of less than one-year-o...

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...