Isolated symmetrical brachymetacarpia of the thumb--case report.
Ontology highlight
ABSTRACT:
SUBMITTER: Suresh SS
PROVIDER: S-EPMC2787216 | biostudies-other | 2009 Dec
REPOSITORIES: biostudies-other
Similar Datasets
Project description:BackgroundThe radial artery is used for the access of coronary angiography and percutaneous coronary intervention, as well as for coronary artery bypass surgery. Variations of upper limb arteries are common, however, congenital absence of radial artery is scarce, and most cases were unilateral radial artery absence.Case presentationDuring a coronary angiography of a 43-year-old man, we encountered a very rare bilateral congenital absence of the radial artery. For both arms, the radial arteries were not observed and the ulnar arteries were small in size, while anterior interosseous arteries were found to be the dominant artery. Coronary angiography and percutaneous coronary intervention were performed via the brachial artery since transradial percutaneous coronary intervention failed.ConclusionThe highlight of this case is that it could be the first case to be reported with bilateral absence of radial artery in adults.
| S-EPMC4000061 | biostudies-literature
Project description:Congenital clasped thumb is a progressive flexion and adduction deformity presenting with heterogeneous congenital abnormalities and syndromes. This deformity is usually accompanied by first web space narrowing and metacarpophalangeal joint (MPJ) laxity. Understanding the various features of the clasped thumb and making an accurate diagnosis is essential for treatment. Depending on the classification, treatment can vary from conservative to surgical. We describe the case of a bilateral clasped thumb with various characteristics, which were treated differently according to the disease type. The deformity of the clasped thumb was bilateral, and the patient had MPJ flexion deformity, flexor pollicis longus shortening, first web space narrowing, and MPJ instability, which were confirmed through a stress test. The left thumb was a complex type and was surgically treated, whereas, the right thumb was a flexible type, which was treated with splinting; the treatment showed promising results at 2 years post surgery. Diagnosis of the clasped thumb through thorough history taking, physical examination and considering its characteristics, and appropriate classification of the disease is essential for treatment. Furthermore, a stress test can identify MPJ instability in the congenital clasped thumb.
| S-EPMC8316600 | biostudies-literature
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA
Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
2020-06-04 | GSE151766 | GEO
Project description:Labium majus abscess in the presence of the novel anaerobic Lawsonella clevelandensis: a first report
| PRJEB40325 | ENA
Project description:Case report of a human pneumonia due to Legionella sainthelensi
| PRJEB40106 | ENA
Project description:BackgroundTriphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare type of congenital limb deformity, and most studies focus on the genetics. Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.Case summaryA 30-year-old woman (G3P1) who had pregnancies with TPT-PS fetuses is presented. The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy, featuring hands with six metacarpals, an extra digit at the 5th finger side, and an abnormally widened thumb. Whole-exome sequencing was subsequently conducted. The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication, with a length of approximately 253 kb.ConclusionWe suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.
| S-EPMC8362503 | biostudies-literature
Project description:Glioneuronal tumor (GN) is one type of biphasic central nervous system (CNS) tumor that exhibits both glial and neuronal immunohistological characteristics. We report a case of glioneuronal tumor (GN) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. The tumor exhibited typical characteristics on histological examinations. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a CLIP2-MET fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted CLIP2-MET gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is responsible for the oncogenesis of GN based on our case and other previously reported ones.
2019-12-28 | GSE142668 | GEO
Project description:BackgroundIntestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years.Case presentationWe describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative.ConclusionsOnly few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.
| S-EPMC8008650 | biostudies-literature
Project description:BackgroundIsolated right ventricular myocardial infarction (RVMI) due to a recessive right coronary artery (RCA) occlusion is a rare presentation. It is typically caused by right ventricle (RV) branch occlusion complicating percutaneous coronary intervention. We report a case of an isolated RVMI due to flush RCA occlusion presenting via our primary percutaneous coronary intervention ST-elevation myocardial infarction pathway.Case summaryA 61-year-old female smoker with a history of hypercholesterolaemia presented via the primary percutaneous coronary intervention pathway with sudden onset of shortness of breath, dizziness, and chest pain while walking. Transradial coronary angiography revealed a normal left main coronary artery, large left anterior descending artery that wrapped around the apex and dominant left circumflex artery with the non-obstructive disease. The RCA was not selectively entered despite multiple attempts. The left ventriculogram showed normal left ventricle (LV) systolic function. She was in cardiogenic shock with a persistent ectopic atrial rhythm with retrograde p-waves and stabilized with intravenous dobutamine thus avoiding the need for a transcutaneous venous pacing system. A computed tomography pulmonary angiogram demonstrated no evidence of pulmonary embolism while an urgent cardiac gated computed tomography revealed a recessive RCA with ostial occlusive lesion. A cardiac magnetic resonance imaging confirmed RV free wall infarction. She was managed conservatively and discharged to her local district general hospital after 5th day of hospitalization at the tertiary centre.DiscussionThis case describes a relatively rare myocardial infarction presentation that can present with many disease mimics which can require as in this case, a multi-modality imaging approach to establish the diagnosis.
| S-EPMC7850631 | biostudies-literature