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Congenital causes
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Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD.
13p
vibransone
28-03-2024
4
2
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Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p
vioraclene
31-03-2024
8
2
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De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.
9p
vioraclene
31-03-2024
6
2
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Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally unknown.
14p
vioraclene
31-03-2024
2
2
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Part 2 book "Large animal neurology" includes content: Congenital, familial and genetic disorders; infectious, inflammatory and immune diseases; physical, chemical and thermal causes; toxic diseases; nutritional diseases; metabolic diseases; neoplasms and other tumors; multifactorial and idiopathic disorders,... and other contents.
384p
muasambanhan07
20-02-2024
3
0
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Part 1 book "Equine respiratory diseases" includes content: Examination of the upper respiratory tract; examination of the lower respiratory tract, diseases causing airway obstruction in the horse; the nasal cavity and paranasal sinuses; congenital and developmental malformations of the nasal cavity; diseases affecting the nostrils (external nares); diseases of the nasal cavity and paranasal sinuses; the gutteral pouches; the pharynx; the larynx; dynamic airway collapse during exercise; postanesthetic upper respiratory tract obstruction; the trachea.
179p
muasambanhan07
18-02-2024
4
1
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Pulmonary arteriovenous malformations are mostly caused by congenitally abnormal shunts between pulmonary arteries and pulmonary veins. Our findings imply that bronchiectasis can cause pulmonary arteriovenous malformations, and thus patients who present with hypoxemia with bronchiectasis should be carefully evaluated.
4p
vigojek
02-02-2024
3
1
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Diagnosing urinary incontinence from organic causes such as ectopic ureter is particularly important because of the potential for cure by surgical correction. The prevalence of ectopic ureter is uncertain because many are asymptomatic and the diagnosis is usually overlooked.
7p
vilazada
31-01-2024
6
2
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Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause. The prenatal diagnosis of LUTO plays a crucial role in recognizing the condition and guiding management decisions.
5p
vitiki
30-01-2024
2
2
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The duodenal web is a thin, elongated, web-like structure that is one of the factors contributing to duodenal obstruction. Only 100 cases have been reported in the literature. We present a 2.5-year-old cachectic Afghan child who did not have any overt signs and symptoms of intestinal obstruction, like recurrent vomiting, abdominal distention, and weight loss.
5p
vitiki
30-01-2024
5
2
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Aortic regurgitation is attributed to congenital and acquired abnormalities of the aortic valve or aortic valve supporting structures. The most common cause of aortic regurgitation is atherosclerotic degeneration of the valve, especially in the presence of a bicuspid aortic valve.
4p
vilazada
31-01-2024
3
2
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Congenital erythropoietic porphyria (CEP), also known as pink tooth or Gunther disease, is a rare hereditary disorder caused by an enzyme mutation in the heme biosynthesis pathway, which leads to the accumulation of immature and non-physiological protoporphyrin rings in various tissues. CEP is characterized by sun-exposed bullous skin lesions, hemolytic anemia, red/brown urine, and teeth staining.
6p
vitiki
30-01-2024
3
2
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Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males.
7p
vitiki
30-01-2024
4
2
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Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging.
7p
vitiki
30-01-2024
3
2
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Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.
3p
vitiki
30-01-2024
5
2
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Congenital unilateral pulmonary vein atresia is a rare anomaly resulting from failure of the pulmonary vein to incorporate in the left atrium. It is a very rare cause of recurrent respiratory infections and hemoptysis requiring a high index of suspicion for proper diagnosis and management in early childhood.
5p
vitiki
30-01-2024
6
2
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The 18q-deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings.
7p
vitiki
30-01-2024
5
2
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Alcohol and gall stones are common causes of pancreatitis. Other causes of pancreatitis include hypertriglyceridemia, trauma, congenital anomalies, and medications. Hypertriglyceridemic pancreatitis is distinguished, as it is more severe and complicated.
5p
vitiki
30-01-2024
2
2
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Intrahepatic vascular shunts “IHVS” are abnormal communications between intra-hepatic vasculature involving the arterial, portal, or hepatic venous system. Arterio-portal fistula “APF” is an intrahepatic communication between the hepatic arterial system and the portal venous system without any communication with the systemic venous circulation. APF is considered a rare cause of portal hypertension and gastrointestinal bleeding in infancy.
8p
vitiki
30-01-2024
7
2
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Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene; however, few case reports have been published on it.
7p
vitiki
30-01-2024
7
2
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