Physical exam with emphasis on listening for abnormalities of heart sound, abnormalities of lung sound, or presence of ... Current evaluation has proposed multiple mechanisms for increased airway resistance, and focus is on four alternate ... There is ongoing interest into establishing connections of cardiac asthma to abnormalities in bronchiole anatomy. ... a patient can experience multiple night time episodes of breathlessness, changes in skin coloration, and episodes of bloody ...

Li Q, Luo C, Löhr CV, Dashwood RH (Aug 2011). "Activator protein-2α functions as a master regulator of multiple transcription ... Homozygous knockout mice also have neural tube defects followed by craniofacial and body wall abnormalities. In vivo gene ... AP-2 alpha also functions as a master regulator of multiple transcription factors in the mouse liver. In melanocytic cells ... NSCL/P occur in approximately 1/700 live births and is one of the most common form of congenital abnormalities. A previous ...

According to Histopathology, "However, in about 30% of FA patients no physical abnormalities are found". Dyskeratosis congenita ... often affects multiple parts of the body. Individuals with this disorder usually show changes in skin pigmentations, unusual ...

Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo. A mutation in a ... Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain ... CS1 maint: multiple names: authors list, CS1 errors: periodical ignored, Articles with short description, Short description is ... cite book}}: ,first1= has generic name (help)CS1 maint: multiple names: authors list (link) Scholia has a topic profile for ...

Alternative splicing results in multiple transcript variants. Model organisms have been used in the study of ASXL1 function. A ... Twenty five tests were carried out on mutant mice and four significant abnormalities were observed. Few homozygous mutant ...

... and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for ...

Xiong WY, Jiang ZY, Zou CC (January 2014). "Tetrasomy X in a child with multiple abnormalities: case report and literature ... Dental abnormalities are associated with the syndrome, in particular taurodontism, where the pulp of the teeth is enlarged and ... Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ... Multiple reports have described the characteristic facial features as "coarse". These dysmorphic features are relatively mild ...

Any neurological abnormalities will not normally be present in those affected at a young age. Neurological testing has been ... Secondary dystonia has multiple origins that are physiological, pathological or neurological. Myoclonus dystonia includes the ... Myoclonus can be characterized in multiple ways including neurological basis, muscular activity, and by stimuli. Myoclonus can ... performed to determine the origins of these symptoms and multiple parts of the brain have been pinpointed including the ...

Chromosome abnormalities, single nucleotide polymorphisms (SNPs, i.e. substitutions of a single nucleotide in a DNA sequence at ... Of all the hematologic malignancies, CLL/SLL is the most likely to afflict multiple family members with estimates of familial ... 90 may be as high as 75%. Age along with B-cell blood counts, MBL phenotype, and certain genomic abnormalities in the ... Most studies on the genomic abnormalities in MBL did not distinguish between the disorder's phenotypes. However, familial ...

... (or sensory ataxia gait) is a form of gait abnormality. It indicates involvement of posterior column. Posterior ... Uncoordinated walking Friedreich's ataxia Pernicious anemia Tabes dorsalis Peripheral neuropathy Spinal cord disease Multiple ... v t e (All stub articles, Medical sign stubs, Gait abnormalities). ...

Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a variety of ... If the abnormality involves a single step in the absorptive process, as in primary lactase deficiency, or if the disease ... Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. ... CT abdomen is useful in ruling out structural abnormality, done in pancreatic protocol when visualising pancreas. Magnetic ...

The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. ... where cell lines with a single sex chromosome are combined with those with multiple. Around 40%-50% of cases of Turner syndrome ... In 1964, it was determined to be due to a chromosomal abnormality. Turner syndrome has a number of physical and psychological ... CHDs associated with Turner syndrome include bicuspid aortic valves (30%), coarctation of the aorta (15%), and abnormalities of ...

An orthotist may address gait abnormalities by prescribing the use of orthotics.[citation needed] Appropriate footwear is also ... February 2019). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of ... Yiu EM, Burns J, Ryan MM, Ouvrier RA (September 2008). "Neurophysiologic abnormalities in children with Charcot-Marie-Tooth ...

Use of multiple polyadenylation sites has been noted for this gene. Model organisms have been used in the study of SNAP29 ... Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos ... This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other ... The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures ...

... contains multiple amino acid sites that are phosphorylated and ubiquitinated. Model organisms have been used in the study ... Twenty seven tests were carried out on mutant mice and three significant abnormalities were observed. No homozygous mutant ... MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical ... multiple strategies to promote virus replication". J. Biosci. 28 (3): 323-35. doi:10.1007/BF02970151. PMID 12734410. S2CID ...

Publications from multiple research groups indicate that those with schizophrenia perform more poorly than healthy adults when ... Visual processing abnormalities in schizophrenia are commonly found, and contribute to poor social function. There is evidence ... Specifically, saccade abnormalities have been observed in this disorder, with people showing changes in saccade rate, amplitude ... CS1 maint: multiple names: authors list, Articles citing publications with errata, Wikipedia references cleanup from August ...

It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. An example of these ... A genetic disorder is a health problem caused by one or more abnormalities in the genome. ... Prenatal diagnosis can detect the presence of characteristic abnormalities in fetal development through ultrasound, or detect ...

However, a number of different and multiple factors such as abnormal brain development or damage to the brain tissue can also ... "Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs". American Journal of ... S2CID 937294.{{cite journal}}: CS1 maint: multiple names: authors list (link) Gould D., Phalan F., Breedveld G., van Mil S., ... S2CID 207118938.{{cite journal}}: CS1 maint: multiple names: authors list (link) Breedveld G., de Coo I., Lequin M., Arts W., ...

Using the multiplex PCR which allows amplification of multiple targets with a single primer pair, MLPA detects copy number ... However, CGH is only able to detect unbalanced chromosomal abnormalities, such as the microdeletion which causes Nablus mask- ... A karyotype displays the number of chromosomes as well as chromosomal abnormalities through specific banding patterns. In the ...

Researcher Larry Ryan Squire did multiple studies with patient N.A. Cued recall tests done to test memory on patient N.A. and ... In both examinations, N.A.'s brain abnormalities included a hypodense region in the left thalamus. In the 1983 examinations, an ... Diencephalic abnormalities were found including damage to the left thalamus extending anteroposteriorly into brain nuclei. ... Patient N.A. underwent multiple neuroimaging studies using Computed Tomography (CT) and Magnetic Resonance Imaging. His first ...

Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with ... Multiple sulfatase deficiency is caused by any mutation of the SUMF1 gene which renders its protein product, the formylglycine- ... Multiple sulfatase deficiency (MSD), also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive: 561 ... Dierks T, Schmidt B, Borissenko LV (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the ...

Multiple attempts to replicate his results have been unsuccessful. Reviews in the medical literature have found no link between ... Functional disorders are a set of conditions that cannot be explained by structural or biochemical abnormalities. These raise ... They often present with non-specific symptoms that are consistent with multiple causes. Adrenal fatigue or hypoadrenia is a ... Alternative medicine proponents claim it is the cause of many conditions including multiple sclerosis and autism, a claim which ...

Obstetric ultrasonography can detect fetal abnormalities, detect multiple pregnancies, and improve gestational dating at 24 ... Twins and other multiple births are counted as one pregnancy and birth. A woman who has never been pregnant is referred to as a ... Pregnancy is the time during which one or more offspring develops (gestates) inside a woman's uterus (womb). A multiple ... The underlying cause in about half of cases involves chromosomal abnormalities. Stillbirth is defined as fetal death after 20 ...

2 July 2008). "Multiple Loci with Different Cancer Specificities Within the 8q24 Gene Desert". Brief Communications. 100 (13). ... These varied deletions only resulted in minor effects including physical abnormalities or a few missing digits. When the ... To select the most likely candidate, the study then applied several individual and multiple deletions to the five islands to ...

For any child born with multiple physical abnormalities, the first-line diagnostic test is chromosomal microarray. To know the ... Prior to birth recognition of an affected fetus during pregnancy requires a plan involving multiple medical disciplines for a ... Kohli, Jyothi Kiran (2016-11-17). "Prenatal diagnosis and screening of genetic abnormalities in early pregnancy". Journal of ... whereas samples obtained through chorionic villus sampling can only be used to detect major chromosomal abnormalities (such as ...

There are multiple pathways for repairing double strand breaks, mainly non-homologous end joining (NHEJ), homologous ... MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other complex ...

"Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic ... characterizes the malignant clone in multiple myeloma: identification of three distinct RHAMM variants" (PDF). Blood. 93 (5): ...

Hormone secretion is rarely altered as a result, and the significance of these abnormalities is uncertain. Carcinoid tumors, ... Multiple endocrine neoplasia type 1 (MEN-1) is one of a group of disorders, the multiple endocrine neoplasias, that affect the ... Multiple subcutaneous and visceral lipomas, angiofibromas, and collagenomas may also occur. People with multiple endocrine ... Multiple adenomas or diffuse islet cell hyperplasia commonly occurs. About 30% of tumors are malignant and have local or ...

A large mass in the neck is often seen, and kidney and bone abnormalities are common. Parathyroid cancer occurs in midlife at ... Conditions that appear to result in an increased risk of parathyroid cancer include multiple endocrine neoplasia type 1, ...

"Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic ...