Patients heterozygous. Medical search. Frequent questions

Patients with FA gene mutation are hypersensitive to DNA damage and unable to successfully repair damaged DNA when exposed to DNA-crosslinking agents, cytotoxic chemotherapeutics, and ionizing radiation ( 3 , 4 ). (frontiersin.org)
Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)
Objective To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. (bmj.com)
Genetic analysis demonstrated a heterozygous D90A-SOD1 mutation. (bmj.com)
These family-based genetic findings suggest that the presence of specific promoter variants increase the risk of a severe phenotype in heterozygous carriers of an SCN5A loss-of-function mutation. (nih.gov)
The fixed-dose combination (FDC) tezacaftor/ivacaftor-FDC has received approval for patients with cystic fibrosis (CF) aged 12 years and older who are homozygous for the F508del mutation or who are heterozygous for the F508del mutation and one of a number of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (nihr.ac.uk)
A missense mutation at codon 189, resulting from a G → A transition at bp 538, impaired carrier activity without affecting targeting or stability in a non-French-Canadian patient. (medscape.com)
The patient was heterozygous for this mutation and had a microdeletion on chromosome 13 that, presumably, accounted for dysfunction in the corresponding allele. (medscape.com)
Lastly, if only one PCR product exists from the mutant primers, then the patient is homozygous for the mutation. (brighthub.com)
Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. (medlineplus.gov)
Around 80% of affected patients with DS carry a mutation in the alpha-1 subunit of the sodium channel of the SCN1A gene localized in 2q24.3, encoding a voltage-gated sodium channel essential for the excitability of neurons. (hindawi.com)
Results One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. (bmj.com)
In a pedigree with Mendelian dominant FALS, one patient was found to be heterozygous for the p.D90A mutation. (bmj.com)
We report the frequency of SOD1 mutations in a large Dutch referral population of sporadic and familial ALS patients, and a comparison is made with other countries by reviewing studies on SOD1 mutation frequencies in populations from Europe, USA and Japan. (bmj.com)
Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). (ncbs.res.in)
Management of patients with BRCA mutation from the point of view of a breast surgeon. (cdc.gov)

In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)

Results Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. (bmj.com)
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation. (bvsalud.org)
one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
Seven heterozygous missense and two homozygous mutations were identified. (bmj.com)

Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. (bmj.com)
Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. (bmj.com)
We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care. (bmj.com)
Rare heterozygous GDF6 variants in patients with renal anomalies. (helmholtz-hzi.de)
To assess the role of GDF6 in the pathogenesis of renal malformation, we performed targeted sequencing in 193 further patients identifying rare GDF6 variants in two cases with kidney hypodysplasia and extrarenal manifestations. (helmholtz-hzi.de)
Altogether, we identified rare heterozygous GDF6 variants in 1.6% of all renal anomaly patients and 5.4% of renal anomaly patients additionally manifesting skeletal, ocular, or auricular abnormalities, adding renal hypodysplasia and fusion to the phenotype spectrum of GDF6 variant carriers and suggesting an involvement of GDF6 in nephrogenesis. (helmholtz-hzi.de)
WES identified compound heterozygous RPE65 variants in both patients. (molvis.org)
The results indicate that the recovery of combined or residual cone responses might be associated with a mild form of RPE65 -related early onset flecked retinal dystrophy with new compound heterozygous variants. (molvis.org)
This report presents information on two unrelated Japanese patients who exhibit early onset flecked retinal dystrophy with compound heterozygous variants in the RPE65 gene. (molvis.org)
These promoter variants were significantly associated with disease severity (mild vs severe phenotype) (P = .0007), as all 3 patients with severe phenotype carried the 2-SNP variant on both mutant and wild-type alleles. (nih.gov)
Germline variants such as BRCA1/2 play an important role in tumorigenesis and clinical outcomes of cancer patients. (nature.com)
The challenge remains in using these inherited germline variants to predict clinical outcomes of cancer patient population. (nature.com)
Gene signatures derived from the genes containing functionally germline variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts ( n = 200 and 295, P = 1.4 × 10 −3 ). (nature.com)
Finally, we found that recurred patients possessed a higher rate of germline variants. (nature.com)
Hence, pre-existing germline variants provide a profound constraint on the evolution of tumor founding clones and subclones and therefore have a contingent effect on the genetic makeup of tumor and presumably patient outcomes. (nature.com)
9 Here we reasoned that the collective impact of germline variants in cancer patients might largely determine tumorigenesis, evolution, and even clinical outcomes. (nature.com)
Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic. (hindawi.com)
A minority of DS patients might have pathogenic variants in other genes such as PCDH19 , SCN1B , SCN8A , HCN1 , GABRA1 , and GABRG2 [ 5 ], and other pathologies close to DS might then be considered as differential diagnosis. (hindawi.com)
Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. (cdc.gov)

Reduce elevated total cholesterol (total-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein B (Apo B), and triglycerides (TG), and to increase high-density lipoprotein cholesterol (HDL-C) in patients with primary hyperlipidemia (Fredrickson type IIa, heterozygous familial and nonfamilial) or mixed dyslipidemia (Fredrickson type IIb). (globalrph.com)
Reduce elevated total-C, LDL-C, apo B, and TG levels and increase HDL-C in adult patients with primary hyperlipidemia (heterozygous familial and nonfamilial) and mixed dyslipidemia ( 1.2 ). (nih.gov)

Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)

If carefully questioned, patients with either homozygous or heterozygous FH may describe first-degree relatives who had visible tendon xanthomas on their hands. (medscape.com)

Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)

Patients are most often composite heterozygous and transmission is autosomal recessive. (orpha.net)

This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. (helmholtz-hzi.de)
To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. (molvis.org)
Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F: Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. (karger.com)
Here, we describe the first two Polish patients with ACD confirmed by histopathological and genetic examination. (researchgate.net)
8 Genetic tests based on these highly penetrant gene mutations have shown their usefulness, but they can explain only a small fraction (5-10%) of patients. (nature.com)
Neuroimaging studies show nonspecific findings, and diagnosis is given based on the clinical state of the patient in addition to the genetic testing [ 2 ]. (hindawi.com)
Genetic counseling should be offered to patients and families to identify individuals susceptible to developing or transmitting the disease, and to advise on measures to reduce the risk of attacks. (orpha.net)
if the spouse is heterozygous, their children should then have genetic testing for this disorder. (msdmanuals.com)
Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives. (cdc.gov)
Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome. (cdc.gov)

Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
Whole-exome sequencing (WES) verified RAD51C, BRIP1, PALB2 , and FANCG heterozygous germline mutations of the FA pathway, which were further confirmed in buccal swab samples by Sanger sequencing. (frontiersin.org)
(B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
Hence, germline genomic information could be used for developing non-invasive genomic tests for predicting patients' outcomes in breast cancer. (nature.com)
Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)

One patient with a de novo deletion of chromosome arm 18q has been reported. (medscape.com)

Reduce elevated total-C, LDL-C, and apo B levels in pediatric patients, 10 years to 17 years of age, with heterozygous familial hypercholesterolemia (HeFH) after failing an adequate trial of diet therapy ( 1.2 ). (nih.gov)
Background Many patients with heterozygous familial hypercholesterolemia (HeFH) fail to reach optimal low-density lipoprotein cholesterol (LDL-C) levels with available lipid-lowering medications, including statins, and require treatment using alternative methods such as lipoprotein apheresis. (elsevierpure.com)
Objective To evaluate the efficacy of alirocumab 150 mg every 2 weeks (Q2W) compared with placebo in reducing the frequency of lipoprotein apheresis treatments in patients with HeFH. (elsevierpure.com)
Discussion The ODYSSEY ESCAPE trial will determine whether alirocumab reduces the frequency of lipoprotein apheresis in patients with HeFH. (elsevierpure.com)

A few studies have been produced that examine mutations in patients where ARMS has been used. (brighthub.com)
Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency. (medlineplus.gov)

The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. (cdc.gov)

While the first variant was absent from all databases, the second variant has already been described in one patient . (bvsalud.org)
Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)

Because of ARMS' ability to detect single nucleotide polymorphisms (SNPs) in heterozygote patients, the technique has been increasingly popular. (brighthub.com)

2018. Derivation of iPSC lines from two patients with familial Alzheimer's disease from India. . (ncbs.res.in)

In the study, ARMS was applied to patients with α1-antitrypsin deficiency, who were either carriers of the disease and to non-affected individuals. (brighthub.com)
A review of cases of women with heterozygous Fabry disease found that these patients are not just carriers but that they have a significant burden of disease and impaired quality of life. (hcplive.com)
With the exception of the extremely a computer simulation, we investigated rare mutations, only those individuals the effect on the population disease born to 2 gene carriers (heterozygotes or gene frequency and the frequencies of homozygotes) may develop thalassaemia heterozygous and homozygous individuals major. (who.int)

The patient showed wide of Becker muscular dystrophy, but weakc based gait and tiptoe walking. (who.int)

The mutations that resulted in primary lymphedema in patients provided investigators important insights into the function of the ANGPT2 protein and mechanisms that lead to lymphedema. (genengnews.com)

Methods The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. (bmj.com)
The researchers isolated DNA from multiple patients with human myeloproliferative disorders, and ran samples through an original and modified methods of ARMS-PCR (Figure 1). (brighthub.com)
Methods and results Patients with oocyte maturation arrest were sequenced with respect to TUBB8 . (bmj.com)
Methods A total of 451 sporadic and 55 FALS patients were screened for SOD1 mutations. (bmj.com)
MATERIAL AND METHODS: In esophageal mucosal samples of 79 patients with: GERD (n=33), BE (n=27), BE+dysplasia (n=8) and ADC (n=11) we have studied LOH of APC tumor suppressor gene using PCR-restriction fragment length polymorphism (RFLP). (who.int)
Most patients do not survive beyond age 30 years unless treated with unusual methods, such as liver transplantation, LDL apheresis, or ileal bypass surgery to dramatically lower their LDLc levels. (medscape.com)

Both patients had similar ophthalmic findings, including decreased visual acuity with early onset night blindness, numerous dense white dots/flecks occurring mainly outside the vascular arcades, a diffuse and/or disrupted ellipsoid line as shown with optical coherence tomography, and non-recordable rod and combined responses along with decreased cone responses after 30 min of DA. (molvis.org)
Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)

After two courses of a highly intensive induction chemotherapy regimen with DAC (decitabine) and HAA (homoharringtonine, cytarabine), the patient suffered from severe and persistent bone marrow failure (BMF). (frontiersin.org)
Simvastatin as an adjuvant therapy to fluoxetine in patients with moderate to severe major depression: A double-blind placebo-controlled trial. (druglib.com)
We aimed to investigate the antidepressant effects of simvastatin as an adjuvant therapy in patients with moderate to severe depression. (druglib.com)
Patients who survive manifest a debilitating, persistent ichthyosis similar to severe congenital ichthyosiform erythroderma. (medscape.com)
Needle gressive myopathy, but the disease spectrum electromyography showed polyphasicity, includes patients whose disease is much decreased duration and latency of motor more severe [ 8 ]. (who.int)
These patients have a long-standing history of severe hypercholesterolemia dating back to childhood. (medscape.com)

In retrospective, epidemiological studies, 1-13% of ALS patients are claimed to have a familial disposition for the syndrome (FALS), most commonly with a Mendelian dominant mode of inheritance. (bmj.com)

Seizure types were either generalized, in 5 of the 8 patients, or focal in the case of the 3 others, with a frequency ranging from 1 to 4 seizures per month. (hindawi.com)
Objective To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. (bmj.com)
The frequency of heterozygous cases in control group was significantly higher than in patients group (p = 0.018), whereas Rsa (-/-) were the most frequent in patients group (p = 0.008). (who.int)
Heterozygous frequency varies in parallel with gene frequency. (who.int)

Saiman L, Siegel J. Infection control recommendations for patients with cystic fibrosis: microbiology, important pathogens, and infection control practices to prevent patient-to-patient transmission. (cdc.gov)

Statistically, because the gene for FH is dominant, 50% of the patient's siblings will also have heterozygous FH. (medscape.com)

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). (helmholtz-hzi.de)
College of Wisconsin, current era from 28 patients with septal defects who factor HEY2 in formalin fixed tissue taken from a Milwaukee, Wisconsin, USA underwent cardiac surgery and who were enrolled in our collection of hearts with atrial septal defects congenital heart disease tissue bank. (cdc.gov)
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. (cdc.gov)

Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
Patient phenotypes were assessed by clinical examination and analyses of affected teeth. (bmj.com)
In many patients of these families with recessive VWD, molecular basis studies have provided insights into the molecular mechanisms responsible for the heterogeneity of phenotypes. (karger.com)

Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. (medlineplus.gov)
1 In most of those cases, patients present with signs and symptoms of SLE (fever, rash, arthralgia) with renal involvement (proteinuria, hematuria). (hcplive.com)
Symptoms such as those seen in this patient are somewhat common. (hcplive.com)
We will highlight and focus the symptoms, the mutations of the diagnosed patients, and the treatment to be given. (hindawi.com)
Statins have been shown to decrease depressive symptoms in certain groups of patients, an effect that is mostly attributed to their anti-inflammatory and neurotransmitter modulatory potentials. (druglib.com)
Patients suffer acute neuro-visceral attacks, which persist for several weeks and manifest as intense abdominal pain, and neurological and psychological symptoms. (orpha.net)
These patients may have symptoms consistent with ischemic heart disease, peripheral vascular disease, cerebrovascular disease, or aortic stenosis. (medscape.com)
Patients may have articular symptoms such as tendonitis or arthralgias. (medscape.com)
Children with heterozygous FH do not have symptoms related to CHD. (medscape.com)

Background: The HAUSER-RCT study showed that 24 weeks of evolocumab (a proprotein convertase subtilisin/kexin type 9 [PCSK9] inhibitor) in paediatric patients with heterozygous familial hypercholesterolaemia was safe and improved lipid parameters compared to placebo. (amsterdamumc.org)
Paediatric patients aged 10-17 years with heterozygous familial hypercholesterolaemia who completed 24 weeks of monthly treatment with subcutaneously administered placebo or 420 mg evolocumab in HAUSER-RCT with no serious treatment-emergent adverse events were eligible to enrol in HAUSER-OLE. (amsterdamumc.org)
Interpretation: After 80 weeks of treatment, evolocumab was safe, well tolerated, and led to sustained reductions in LDL cholesterol in paediatric patients with heterozygous familial hypercholesterolaemia. (amsterdamumc.org)
When lipid goals cannot be achieved with conventional treatments, evolocumab is an effective add-on therapy in paediatric patients. (amsterdamumc.org)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)

Conclusions FOSMN syndrome has been recently described in patients with slowly progressive bulbar and upper limb amyotrophy. (bmj.com)
Clotting factors VII and X may be deficient in patients with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (medscape.com)
For example, patients suffering from Li-Fraumeni syndrome have an almost 100% chance of developing a wide range of malignancies before the age of 70 years. (nature.com)

Rsa (-/-) were seen significantly more often in GERD compared to ADC patients (p = 0.005), in opposite to Rsa (+/+), which were significantly more frequent in ADC vs. GERD (p = 0.007). (who.int)
Early, accurate diagnosis is critical to effective patient management and counselling, but assignment of an incorrect diagnosis of multiple sclerosis remains a frequent concern. (medscape.com)

Our laboratory focuses on discovery, cloning, sequencing, and creating gene therapy approaches for patients with hereditary forms of epidermolysis bullosa, a serious (potentially lethal) skin disease. (stanford.edu)

Most patients with heterozygous TPMT or NUDT15 deficiency tolerate the recommended dosage, but some require a dose reduction based on adverse reactions. (drugs.com)
If products are present in both reactions, the patient is heterozygous. (brighthub.com)

2 Subsequent studies have identified over 140 different SOD1 mutations in ALS patients. (bmj.com)
Mutations in SOD1 have been reported in approximately 12-23% of the patients diagnosed as having FALS and in 1-4% of patients diagnosed as having SALS. (bmj.com)

Reduce elevated TG and VLDL-C in patients with primary dysbetalipoproteinemia (Fredrickson type lll hyperlipidemia). (globalrph.com)
Reduce elevated TG in adult patients with hypertriglyceridemia and primary dysbetalipoproteinemia ( 1.2 ). (nih.gov)

Use the lowest recommended starting dosage for PURINETHOL in patients with renal impairment (CLcr less than 50 mL/min). (drugs.com)
65), uncontrolled hypothyroidism, and renal impairment.Rare cases of rhabdomyolysis with acute renal failure secondary to myoglobinuria have been reported.Advise patients to promptly report to their physician unexplained and/or persistent muscle pain, tenderness, or weakness. (nih.gov)

Conclusions: Both patients presented with a distinct course of ACD, extra-pulmonary manifestations and response to medications. (researchgate.net)
CONCLUSIONS: APC gene inactivation concerns minority of patients with esophageal adenocarcinoma, however, its detection indicates higher risk of progression to ADC. (who.int)

Because each must have a parent with heterozygous FH, a history of significant hypercholesterolemia and premature CHD can be traced to the patient's second degree relatives. (medscape.com)

Concurrent screening of the patient and her partner is suggested if there are time constraints for decisions about prenatal diagnostic evaluation. (acog.org)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
In the absence of pathognomonic clinical findings or a definitive laboratory test, the diagnosis of multiple sclerosis remains challenging in many patients, and diagnostic criteria emphasize the caveat of 'no better explanation' for a patient's clinical presentation and MRI findings. (medscape.com)

We report a female patient who suffered from ovarian cancer at 50 years of age. (frontiersin.org)
dose range: 10 to 20 mg/day for patients 10 years to 17 years of age ( 2.2 ). (nih.gov)
A recent large, multi-centre study of 733 predominantly Caucasian patients with NAFLD from the USA, UK, Australia and Italy showed a mean age of 48 years, with a male prevalence of 53% and a mean homeostasis model assessment (HOMA) score of 5.53. (bmj.com)
Natural history studies suggest that measurable fibrosis progression occurs in 32-37% of patients over 3-6 years 16 - 18 and up to 12% of patients will progress to cirrhosis over 8-10 years. (bmj.com)
Three years later, after continued follow-up and successful treatment, the patient was found on random urinalysis to have isolated 2+ proteinuria. (hcplive.com)
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data. (cdc.gov)

In some patients attacks may be recurrent and incapacitating, and sometimes fatal. (orpha.net)

Reduce the recommended starting dosage of PURINETHOL in patients who are known to have homozygous TPMT or NUDT15 deficiency. (drugs.com)
Reduce elevated TG in patients with hypertriglyceridemia (Fredrickson type lV hyperlipidemia). (globalrph.com)
Reduce total-C and LDL-C in patients with homozygous familial hypercholesterolemia (HoFH) as an adjunct to other lipid-lowering treatments (e.g. (globalrph.com)
Reduce the risk of MI, stroke, revascularization procedures, and angina in adult patients without CHD, but with multiple risk factors ( 1.1 ). (nih.gov)
Reduce the risk of non-fatal MI, fatal and non-fatal stroke, revascularization procedures, hospitalization for CHF, and angina in adult patients with CHD ( 1.1 ). (nih.gov)
Reduce total-C and LDL-C in patients with homozygous familial hypercholesterolemia (HoFH) ( 1.2 ). (nih.gov)
To reduce morbidity and mortality as a result of uncontrolled hemorrhage, patients needing a massive transfusion, specifically addressed in detail later in this chapter, must be quickly identified so that immediate interventions can prevent the development of the lethal triad of coagulopathy, hypothermia, and acidosis. (medscape.com)

In contrast, chorioretinal atrophy with punched-out lesions is a standard finding in patients with gyrate atrophy. (medscape.com)
Patients have a history of unusual skin lesions. (medscape.com)

Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). (molvis.org)

(A) Patient timeline of key clinical events and laboratory test results. (frontiersin.org)
Data concerning the clinical characteristics of NAFLD patients have been obtained mainly from several relatively small, single-centre studies with varying results. (bmj.com)
RESULTS: Among 79 patients, there were 16 heterozygous (20%) for APC gene. (who.int)

There is a great need to find molecular biomarkers predicting increased progression risk in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence to improve risk assessment and stratification of patients to surveillance program. (who.int)

Evaluate the bone marrow in patients with prolonged myelosuppression or repeated episodes of myelosuppression to assess leukemia status and marrow cellularity. (drugs.com)

In 16 informative heterozygous LOH was detected in 7 cases: 2/5 with GERD, 3/7--with BE, 1/2--with BE+dysplasia and 1/2--with ADC. (who.int)

This mutant mouse exhibits plaque and tangle pathology associated with synaptic dysfunction, traits similar to those observed in Alzheimer's disease patients. (mmrrc.org)

Here, we present the case of a 54-year-old female patient with multiple FA gene mutations. (frontiersin.org)

Two or more other CVD risk factors are present in the adolescent patient. (globalrph.com)

Since the disease is prone to recurrence after surgery, HGF patients must undergo repeated surgical procedures of gingival resection, which brings a heavy psychological and economic burden to HGF patients and their families. (nature.com)

2014] would improve clinical outcomes in patients with ARDS. (druglib.com)

Researchers collected samples from patients (and family members) suffering from primary lymphedema. (genengnews.com)
In the remaining 90% of ALS patients where there is no family history, the disease is considered to be sporadic (denoted as SALS). (bmj.com)
It is important to obtain the family history of the patient and, if possible, her partner as a screening tool for inherited risk. (acog.org)
If a patient requests carrier screening for a particular condition for which testing is readily available and which reasonably would be considered in another screening strategy, the requested test should be offered to her (regardless of ethnicity and family history) after counseling on the risks, benefits, and limitations of screening. (acog.org)

Mutation16

Compound Heterozygous Mutations2

Missense4

Variants21

Familial and nonfamilial2

Phenotype2

Homozygous or heterozygous1

Pathogenic1

Autosomal recessive1

Genetic11

Germline5

Novo1

HeFH4

Mutations in patients2

Chromosome region1

Variant2

Heterozygote1

20181

Carriers3

Dystrophy1

Investigators1

Methods6

Onset2

Severe6

Mendelian1

Frequency4

Cystic fibrosis1

Dominant1

Congenital3

Phenotypes3

Symptoms9

Paediatric patients5

Syndrome3

Frequent2

Hereditary1

Reactions2

SOD12

Primary dysbetalipoproteinemia2

Renal impairment2

Conclusions2

Premature1

Diagnostic3

Years6

Recurrent1

Reduce7

Lesions2

Underwent1

Results3

Molecular1

Bone1

Cases1

Dysfunction1

Gene mutations1

Adolescent1

Recurrence1

Clinical outcomes1

Family4