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About 34,630 results

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 of fetal physiological and pathological uterine effusion observed on pr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9101858
BMC Pregnancy and Childbirth; Wang L, Chen L et. al.

May 14th, 2022 - The prenatal detection rate of fetal uterine effusion is very low, and current case reports mainly focus on pathological hydrometrocolpos. We presented two cases of fetal physiological uterine effusion with different ultrasonic characteristics and compared them with one case of hydrometrocolpos with the hope of identifying strategies to reduce misdiagnosis of fetal uterine effusion. This paper ...

Giant renal parapelvic cyst with pelvi-ureteric junction obstruction in an infant: chal...
https://doi.org/10.1136/bcr-2022-249548
BMJ Case Reports; Kapoor R, Mandelia A et. al.

May 12th, 2022 - Renal parapelvic cysts (RPC) have an incidence of approximately 1%-3% in the general population. However, they rarely present in children with only two cases reported in literature. RPC are often misdiagnosed as it is difficult to distinguish them from hydronephrosis on preoperative imaging. We report a case of an infant with a giant RPC with associated pelvi-ureteric junction obstruction, who ...

A deep learning approach identifies new ECG features in congenital long QT syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9063181
BMC Medicine; Aufiero S, Bleijendaal H et. al.

May 4th, 2022 - Congenital long QT syndrome (LQTS) is a rare heart disease caused by various underlying mutations. Most general cardiologists do not routinely see patients with congenital LQTS and may not always recognize the accompanying ECG features. In addition, a proportion of disease carriers do not display obvious abnormalities on their ECG. Combined, this can cause underdiagnosing of this potentially li...

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 ...

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...

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...

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephro...
https://doi.org/10.1073/pnas.2115960119
Proceedings of the National Academy of Sciences of the Un... Garcia H, Serafin AS et. al.

Apr 29th, 2022 - SignificanceJuvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available. This paper describes the identification of agonists of prostaglandin E2 receptors as a potential therapeutic approach for the most common NPHP1-associated ciliopathies. We demonstrated that prostaglandin E1 rescues defective ciliogenesis and cilia...

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...

Acquired long QT syndrome due to antiemetics, COVID-19 and Blastocystis hominis induced...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9045059
BMJ Case Reports; Rajendram R, Alghamdi AA et. al.

Apr 28th, 2022 - Congenital chloride losing diarrhoea (CCLD) is a rare disease caused by mutations in an intestinal chloride/bicarbonate ion exchange channel. Few reports describe CCLD in adults and none has described the impact of a parasitic infection on CCLD. Severe diarrhoea may result in hypokalaemia with QT interval prolongation. Treatment with antiemetics may further increase the QT interval. To raise aw...

Mesenchymal stromal cells from a progressive pseudorheumatoid dysplasia patient show al...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036808
European Journal of Medical Research; Pulsatelli L, Manferdini C et. al.

Apr 26th, 2022 - Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive non-inflammatory skeletal disease with childhood onset and is characterized by a progressive chondropathy in multiple joints, and skeletal abnormalities. To date, the etiopathological relationship between biological modification occurring in PPRD and genetic mutation remains an open issue, partially due to the limited a...

External treatment of herbal medicine with tuina in congenital muscular torticollis: A ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913123
Medicine Kim E, Choi J et. al.

Apr 23rd, 2022 - This study is the protocol to evaluate the clinical evidence for external treatments using herbal medicine (ETHM) with tuina as a congenital muscular treatment (CMT) in pediatrics. Eleven databases will be searched until June 2022, without any language restrictions: four English databases (MEDLINE, Pubmed, EMBASE, and The Cochrane Central Register of Database of Controlled Trials), three Chines...

Multimodal imaging of congenital retinal macrovessel with secondary foveal hypoplasia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021763
BMJ Case Reports; Kohli P, Mishra C et. al.

Apr 22nd, 2022 - Congenital retinal macrovessel (CRM) is defined as a large aberrant blood vessel that traverses through the central macula. It can have large tributaries extending on both sides of the horizontal raphe. The condition is typically asymptomatic. However, visual loss may be reported in case of associated branch retinal artery occlusion, cavernous haemangioma, retinal artery macroaneurysm, retinal ...

Spontaneous coronary artery dissection in a 50-year-old woman.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035303
CMAJ : Canadian Medical Association Journal = Journal De ... Petropoulos T, Rooprai J et. al.

Apr 21st, 2022 - Spontaneous coronary artery dissection in a 50-year-old woman.|2022|Petropoulos T,Rooprai J,Kotowycz MA,Madan M,|diagnostic imaging,diagnostic imaging,congenital,diagnostic imaging,

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cata...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013174
BMC Ophthalmology; Guo R, Huang D et. al.

Apr 17th, 2022 - To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China. Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online softwa...

Congenital large aneurysmal left atrium: a rare cause of 100% cardiothoracic ratio.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014001
BMJ Case Reports; Sagar MH, Lalani K et. al.

Apr 17th, 2022 - Congenital large aneurysmal left atrium: a rare cause of 100% cardiothoracic ratio.|2022|Sagar MH,Lalani K,Rao MS,Ramachandran P,|complications,congenital,diagnostic imaging,abnormalities,diagnostic imaging,

Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging ...
https://doi.org/10.1016/j.clinimag.2022.03.019
Clinical Imaging; Bisht RU, Van Tassel DC et. al.

Apr 10th, 2022 - We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended t...

Prevalence of Gastroesophageal Reflux Disease in Infants With Congenital Muscular Torti...
https://doi.org/10.1097/PEP.0000000000000883
Pediatric Physical Therapy : the Official Publication of ... Bess LK, Costa J et. al.

Apr 7th, 2022 - Clinical experience suggests that gastroesophageal reflux disease (GERD) occurs commonly in infants with congenital muscular torticollis (CMT). However, this is an understudied topic and prospective studies are absent. We determine the prevalence of GERD in infants with CMT, comparing clinical characteristics between CMT infants with and without GERD, and identifying infants with potentially un...

Infants With Torticollis Who Changed Head Presentation During A Physical Therapy Episode.
https://doi.org/10.1097/PEP.0000000000000879
Pediatric Physical Therapy : the Official Publication of ... Greve KR, Perry RA et. al.

Apr 7th, 2022 - The purpose of this study is to describe infants with congenital muscular torticollis (CMT) who changed head presentation during an episode of physical therapy. Data were extracted from electronic medical records between January 2015 and December 2018 to describe infants with CMT who changed presentation. Eighty-nine infants met criteria (predominantly male, non-Hispanic, White, with private in...