Concurrent Defects Research Articles

Omphalocele: clinical and epidemiological profile of patients born in a tertiary care center in Rio de Janeiro

BackgroundThe objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types.MethodsUsing Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019.ResultsDuring the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%.ConclusionsOur data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.

AN UNUSUAL CASE OF PARACHUTE MITRAL VALVE

AN UNUSUAL CASE OF PARACHUTE MITRAL VALVE

Anesthetic Management in Patient with Suspected Brain Abscess, Atrium Septal Defect, and Eisenmenger Syndrome

Introduction: Patients with congenital heart disease especially with systemic shunting between systemic and pulmonary circulation often develop pulmonary hypertension and left-to-right shunt (Eisenmenger syndrome) if left untreated. These patients are at risk of developing spontaneous brain abscess due to brain infarction caused by polycythemia, impaired immune function, and loss of lung phagocytosis. Such patients were often admitted to the emergency room with signs of increased intracranial pressure (ICP), and needed specific consideration during surgery. Case: a 31-year old female diagnosed with intracranial space occupying lesion (SOL) due to suspected brain abscess with concurrent heart defects (atrial septal defect / ASD and Eisenmenger syndrome) was consulted to the operating theatre for emergency burrhole aspiration. The surgery was performed for an hour and the postoperatively the patient was admitted to the intensive care unit (ICU). Conclusion: perioperative management of patients with brain abscess and concurrent ASD and Eisenmenger syndrome consists of preoperative management, methods of anesthesia, monitoring, and interventions to prevent the worsening of left-to-right shunt and increasing intracranial pressure. These managements consist of optimal pain management, perioperative oxygen therapy, and prevention of precipitating factor that increases left-to-right shunting.

Class I PI3K Provide Lipid Substrate in T Cell Autophagy Through Linked Activity of Inositol Phosphatases.

Autophagy, a highly conserved intracellular process, has been identified as a novel mechanism regulating T lymphocyte homeostasis. Herein, we demonstrate that both starvation- and T cell receptor-mediated autophagy induction requires class I phosphatidylinositol-3 kinases to produce PI(3)P. In contrast, common gamma chain cytokines are suppressors of autophagy despite their ability to activate the PI3K pathway. T cells lacking the PI3KI regulatory subunits, p85 and p55, were almost completely unable to activate TCR-mediated autophagy and had concurrent defects in PI(3)P production. Additionally, T lymphocytes upregulate polyinositol phosphatases in response to autophagic stimuli, and the activity of the inositol phosphatases Inpp4 and SHIP are required for TCR-mediated autophagy induction. Addition of exogenous PI(3,4)P2 can supplement cellular PI(3)P and accelerate the outcome of activation-induced autophagy. TCR-mediated autophagy also requires internalization of the TCR complex, suggesting that this kinase/phosphatase activity is localized in internalized vesicles. Finally, HIV-induced bystander CD4+ T cell autophagy is dependent upon PI3KI. Overall, our data elucidate an important pathway linking TCR activation to autophagy, via induction of PI3KI activity and inositol phosphatase upregulation to produce PI(3)P.

Peritoneal flap hernioplasty for repair of incisional hernias after orthotopic liver transplantation

BackgroundRepair of incisional hernias following orthotopic liver transplantation (OLT) is a surgical challenge due to concurrent midline and transverse abdominal wall defects in the context of lifelong immunosuppression. The peritoneal flap hernioplasty addresses this problem by using flaps of the hernial sac to bridge the fascial gap and isolate the mesh from both the intraperitoneal contents and the subcutaneous space, exploiting the retro-rectus space medially and the avascular plane between the internal and external oblique muscles laterally. We report our short and long-term results of 26 consecutive liver transplant cases with incisional hernias undergoing repair with the peritoneal flap technique.MethodsPost-OLT patients undergoing elective peritoneal flap hernioplasty for incisional hernias from Jan 1, 2010–Nov 1, 2017 were identified from the Lothian Surgical Audit system (LSA), a prospectively-maintained computer database of all surgical procedures in the Edinburgh region of south-east Scotland. Patient demographics and clinical data were obtained from the hospital case-notes. Follow-up data were obtained in Feb 2020.ResultsA total of 517 liver transplantations were performed during the inclusion period. Twenty-six of these (18 males, 69%) developed an incisional hernia and underwent a peritoneal flap repair. Median mesh size (Optilene Elastic, 48 g/m2, BBraun) was 900 cm2 (range 225–1500 cm2). The median time to repair following OLT was 33 months (range 12–70 months). Median follow-up was 54 months (range 24–115 months) and median postoperative stay was 5 days (range 3–11 days). Altogether, three patients (12%) presented with postoperative complications: 1 with hematoma (4%) and two with chronic pain (8%). No episodes of infection or symptomatic seroma were recorded. No recurrence was recorded within the follow-up period.ConclusionRepair of incisional hernias in patients following liver transplantation with the Peritoneal Flap Hernioplasty is a safe procedure associated with few complications and a very low recurrence rate. We propose this technique for the reconstruction of incisional hernias following liver transplantation.

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

BackgroundMutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case report describes clinical and genetic findings in a boy with the occurrence of two distinct causative mutations in NF1 and RAB39B explaining the observed phenotype.Case presentationHere we report a 7-year-old boy with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. Proband is an only child born to a father aged 47. Parents did not present signs of NF1, while a maternal uncle showed severe ID, epilepsy, and tremors.By RNA analysis of NF1, we identified a de novo splicing variant (NM_000267.3:c.6579+2T>C) in proband, which explained NF1 clinical features but not the severe ID, behavioral problems, and aggressiveness. Family history suggested an X-linked condition and massively parallel sequencing of X-exome identified a novel RAB39B mutation (NM_171998.2:c.436_447del) in proband, his mother, and affected maternal uncle, subsequently validated by Sanger sequencing in these and other family members.ConclusionsThe case presented here highlights how concurrent genetic defects should be considered in NF1 patients when NF1 mutations cannot reasonably explain all the observed clinical features.

Photoelectrochemical System for Unassisted High-Efficiency Water-Splitting Reactions Using N-Doped TiO2Nanotubes

In this study, we report a facile one-step synthesis of porous and defect-rich nitrogen (N)-doped TiO2 nanotubes by the electrochemical anodization process with in situ N-doping on TiO2 nanotubes using nitrogen gas as a nitrogen source. N-doped TiO2 exhibits enhanced visible-light photocatalytic activity toward the photoelectrochemical water-splitting reaction and high stability due to nitrogen doping and band-gap narrowing. Nitrogen-doped nanotubes exhibit unique and efficient photoelectrochemical cell (PEC) water-splitting activity for H2 generation in aqueous electrolytes with a pH gradient. The nitrogen doping and the concurrent defects increase the charge density, which can effectively tune the band gap toward the visible light region, hindering the electron–hole recombination process compared to that in bare TiO2 nanotubes. The PEC has been assembled with chemical (pH) bias (unassisted) by the imposition of electrolytes of different pH’s, resulting in a pH gradient between the photoanode and the metal cathode. The pH-biased photoelectrochemical cell has been constructed with 1 M NaOH on the photoanode side and 1 M H2SO4 on the cathode side. The PEC of N-doped TiO2 nanotubes exhibits an open circuit potential of 1.3 V with a photocurrent density of 0.76 mA/cm2 (at 0.5 V) and solar-to-hydrogen (STH) efficiency of 0.5% in an outdoor sunlight measurement. The photoelectrode exhibits a long-term stability of 120 h in an outdoor measurement.

Restoration of CTSD (cathepsin D) and lysosomal function in stroke is neuroprotective

ABSTRACT Stroke is a leading cause of death and disability. The pathophysiological mechanisms associated with stroke are very complex and not fully understood. Lysosomal function has a vital physiological function in the maintenance of cellular homeostasis. In neurons, CTSD (cathepsin D) is an essential protease involved in the regulation of proteolytic activity of the lysosomes. Loss of CTSD leads to lysosomal dysfunction and accumulation of different cellular proteins implicated in neurodegenerative diseases. In cerebral ischemia, the role of CTSD and lysosomal function is not clearly defined. We used oxygen-glucose deprivation (OGD) in mouse cortical neurons and the middle cerebral artery occlusion (MCAO) model of stroke to assess the role of CTSD in stroke pathophysiology. Our results show a time-dependent decrease in CTSD protein levels and activity in the mouse brain after stroke and neurons following OGD, with concurrent defects in lysosomal function. We found that shRNA-mediated knockdown of CTSD in neurons is sufficient to cause lysosomal dysfunction. CTSD knockdown further aggravates lysosomal dysfunction and cell death in OGD-exposed neurons. Restoration of CTSD protein levels via lentiviral transduction increases CTSD activity in neurons and, thus, renders resistance to OGD-mediated defects in lysosomal function and cell death. This study indicates that CTSD-dependent lysosomal function is critical for maintaining neuronal survival in cerebral ischemia; thus, strategies focused on maintaining CTSD function in neurons are potentially novel therapeutic approaches to prevent neuronal death in stroke. Abbreviations: 3-MA: 3-methyladenine; ACTB: actin beta; AD: Alzheimer disease; ALS: amyotrophic lateral sclerosis; CQ: chloroquine; CTSB: cathepsin B; CTSD: cathepsin D; CTSL: cathepsin L; FTD: frontotemporal dementia, HD: Huntington disease; LAMP1: lysosomal associated membrane protein 1; LSD: lysosomal storage disease; MCAO: middle cerebral artery occlusion; OGD: oxygen glucose deprivation; OGR: oxygen glucose resupply; PD: Parkinson disease; SQSMT1: sequestosome 1; TCA: trichloroacetic acid; TTC: triphenyl tetrazolium chloride.

Concurrent Defects, Methodologies and Recommendations

Software testing is a major process in every software development cycle so as to produce superior quality products that can cater to the customer needs. In the beginning of the IT industry testing was a simple process since competition was not enough so as to produce good quality software. With the development of technology and fierce competition over recent years the needs to develop simultaneous methods of testing have been proposed. Reviewing the given application remains one of the major setbacks of concurrent code and the other being data flow in given request stack. Testing becomes really difficult when the function not returning the output to the caller function in requisite time but later on returns it via call-back functions, messages or other such processes. So this paper aims at viewing the tools and techniques available for better testing, removing bugs so as to make software good. Here the defects as well as directions need to remove it are also focussed.

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.

ObjectivesThe homozygous GH receptor (GHR) pseudoexon (6Ψ) mutation leads to growth hormone insensitivity (GHI) with clinical and biochemical heterogeneity. We investigated whether transcript heterogeneity (6Ψ-GHR to WT-GHR transcript ratio) and/or concurrent defects in other short stature (SS) genes contribute to this.Methods6Ψ-GHR and WT-GHR mRNA transcripts of four 6Ψ patients (height SDS −4.2 to −3.1) and one control fibroblast were investigated by RT-PCR. Transcripts were quantified by qRT-PCR and delta delta CT analysis and compared using ANOVA with Bonferroni correction. In eleven 6Ψ patients, 40 genes known to cause GHI/SS were analysed by targeted next generation sequencing.ResultsRT-PCR confirmed 6Ψ-GHR transcript in the 6Ψ patients but not in the control. 6Ψ-GHR transcript levels were comparable in patients 1 and 3 but significantly different among all other patients. The mean 6Ψ:WT transcript ratios ranged from 29–71:1 for patients 1–4 and correlated negatively with height SDS (R = −0.85; P < 0.001). Eight deleterious variants in six genes were detected, but the number of gene hits did not correlate with the degree of SS in individual 6Ψ patients.ConclusionVariable amounts of 6Ψ- and WT-GHR transcripts were identified in 6Ψ patients but no 6Ψ transcript was present in the control. Higher 6Ψ:WT-GHR transcript ratio correlated with SS severity and may explain the phenotypic variability. Analysis of known SS genes suggested that phenotypic variation is independent of the genetic background. This is the first report of transcript heterogeneity producing a spectrum of clinical phenotypes in different individuals harbouring an identical homozygous genetic mutation.

Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia.

Congenital ear anomalies are associated with congenital cardiac and renal defects. Renal ultrasounds, electrocardiogram, and echocardiogram can be utilized for diagnosis of these concurrent defects. No standard of care exists for the workup of patients with microtia. The goals of this study were to describe the utilization of diagnostic testing for cardiac and renal anomalies and to identify their prevalence in patients with microtia. Case series with chart review. Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center. This study is an Institutional Review Board-approved retrospective review of consecutive patients born between 2002 and 2016 who were diagnosed with microtia and seen in the otolaryngology clinic at a tertiary care children's hospital. Demographics, sidedness and grade of microtia, comorbid diagnoses, and details of renal and cardiovascular evaluations were recorded. Factors associated with retroperitoneal ultrasound and cardiac testing were assessed with logistic regression. Microtia was present in 102 patients, and 98 patients were included as they received follow-up. Microtia was associated with craniofacial syndrome in 34.7% of patients. Renal ultrasound was performed in 64.3% of patients, and 12.9% of patients with ultrasounds had renal aplasia. Cardiac workup (electrocardiogram or echocardiogram) was completed in 60.2% of patients, and of this subset, 54.2% had a congenital heart defect. Diagnostic testing revealed renal anomalies and cardiac defects in patients with isolated microtia at a higher rate than in the general population. This suggests the need for further evaluation of the role of routine screening in patients with microtia.

Updated results from a randomized phase II study of cabazitaxel (CAB) versus abiraterone (ABI) or enzalutamide (ENZ) in poor prognosis metastatic CRPC.

5003 Background: The treatment for poor prognosis mCRPC includes taxanes and androgen receptor (AR) targeted therapy, however the optimal treatment is undefined. Methods: Patients (pts) with poor prognosis (liver metastases, early CRPC ( &lt; 12 months from ADT start), and/or &gt; 3 of 6 poor prognostic criteria (Chi et al, Annals of Oncol, 2016)) were randomized to receive CAB (Arm A) or AR targeted therapy (Arm B, ABI or ENZ by investigator choice) with cross over at progression. Primary objective was to determine the clinical benefit rate (CBR) (PSA decline ≥50% (PSA50), objective response (OR), or stable disease (SD) ≥ 12 weeks). Plasma was sampled serially for circulating tumour DNA (ctDNA). Results: 95 pts were randomized (Arm A: 45, Arm B: 50): 18% had liver mets, 88% early CRPC and 30% had &gt; 3 of 6 poor prognostic criteria. 52% of pts had prior docetaxel, half for castration sensitive disease. Table summarizes 1st-line therapy outcomes. Baseline ctDNA fraction &gt; 15% (median) was associated with shorter 1st-line progression-free survival (PFS) (median 2.8 vs 8.4 m, HR = 2.54, P &lt; 0.001) and overall survival (OS) (median 14.0 vs 38.7 m, HR = 2.64, P = 0.001). ctDNA alterations in AR, TP53, PI3K pathway, RB1 and DNA repair were detected in 53%, 45%, 31%, 23%, and 21% of pts. Shorter PFS and OS were associated with AR gain (HR 2.57 (95% CI 1.63-4.06); HR 3.59, (1.9-6.69), respectively) and TP53 defects (HR 2.62 (CI 1.65-4.15); HR 3.33 (CI 1.8-6.14), respectively). Pts with concurrent defects in TP53 and RB1 had a trend for worse PFS/OS than pts with TP53 defect alone. AR rearrangements predicted to disrupt the ligand binding domain were detected in 6% of pts and had a shorter PFS (HR = 2.60 (1.11 - 6.09)) with a trend for shorter OS (HR = 2.27 (0.89 - 5.81)). Conclusions: In this poor prognosis cohort, 1st-line treatment with CAB had a higher clinical benefit rate than treatment with ABI/ENZA. Elevated ctDNA and genomic alterations in AR and TP53 were prognostic. Supported in part by Sanofi. Clinical trial information: NCT02254785. [Table: see text]

Concurrent defects of intrinsic tellurium and extrinsic silver in an n-type Bi2Te2.88Se0.15 thermoelectric material

We suggested a defect system consisting of Te- and Ag-related defects in n-type Bi2(Te,Se)3. We prepared the Te-rich Bi2Te2.88Se0.15 compound, which is expected to have Te antisite defects, via a conventional pulverization process. We devised a one-pot chemical process in which Ag nanoparticles were synthesized and instantly deposited onto the Bi2Te2.88Se0.15, followed by spark plasma sintering; thus, Ag atoms were inserted into the lattice structure of the Bi2Te2.88Se0.15 during the sintering process. Atomic layers of the Bi2Te2.88Se0.15 were resolved by transmission electron microscopy and dark-field scanning electron microscopy imaging with energy dispersive X-ray spectroscopy; the Ag atoms were thereby proven to occupy the interstitial sites in the Bi2Te2.88Se0.15 (i.e., Ag interstitial defects). The defect system composed of the Te antisites and Ag interstitials decoupled the electrical properties of the Bi2Te2.88Se0.15 from its thermal properties. We endeavored to adjust the defect system to maximize the decoupling effect, which resulted in the preeminent average figures of merit for operation below 150 °C (ZTave = 1.22 at 25–100 °C and 1.18 at 25–150 °C) among n-type Bi2(Te,Se)3 materials.

Concurrency testing using symbolic path finder

Concurrent programs have specific features such as italic communication, synchronization and nondeterministic behavior that make the testing activity complex. The objective is to find various types of concurrent defects. In this paper, we have used a model checking tool called Symbolic Path Finder (SPF) which is the upgradation of Java Path Finder (JPF) for concurrent testing. SPF is used for generating the test cases to check concurrent defects such as deadlock, race condition etc. SPF generates symbolic execution tree of the given code which is used as an input for test case generation. The execution is done for finding the test cases in concurrent program where number of threads is operating together with the concurrent defects. The test cases show the type of concurrent defects in the respective line number of the source code.

Extensive Ca2+ leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+ hypersensitivity.

Various ryanodine receptor 2 (RyR2) point mutations cause catecholamine-induced polymorphic ventricular tachycardia (CPVT), a life-threatening arrhythmia evoked by diastolic intracellular Ca2+ release dysfunction. These mutations occur in essential regions of RyR2 that regulate Ca2+ release. The molecular dysfunction caused by CPVT-associated RyR2 mutations as well as the functional consequences remain unresolved. Here, we study the most severe CPVT-associated RyR2 mutation (K4750Q) known to date. We define the molecular and cellular dysfunction generated by this mutation and detail how it alters RyR2 function, using Ca2+ imaging, ryanodine binding, and single-channel recordings. HEK293 cells and cardiac HL-1 cells expressing RyR2-K4750Q show greatly enhanced spontaneous Ca2+ oscillations. An endoplasmic reticulum-targeted Ca2+ sensor, R-CEPIA1er, revealed that RyR2-K4750Q mediates excessive diastolic Ca2+ leak, which dramatically reduces luminal [Ca2+]. We further show that the K4750Q mutation causes three RyR2 defects: hypersensitization to activation by cytosolic Ca2+, loss of cytosolic Ca2+/Mg2+-mediated inactivation, and hypersensitization to luminal Ca2+ activation. These defects combine to kinetically stabilize RyR2-K4750Q openings, thus explaining the extensive diastolic Ca2+ leak from the sarcoplasmic reticulum, frequent Ca2+ waves, and severe CPVT phenotype. As the multiple concurrent defects are induced by a single point mutation, the K4750 residue likely resides at a critical structural point at which cytosolic and luminal RyR2 control input converge.

Difference equation based empirical mode decomposition with application to separation enhancement of multi-fault vibration signals

Empirical mode decomposition (EMD) has been applied to various applications in signal processing. However, EMD is susceptible to close mode characteristic frequencies and noise, resulting in the problem of mode mixing. The performance of multi-fault detection in gearboxes will be significantly degraded due to mode mixing in the vibration analysis. Hence, this paper presents a new method to address the mode mixing problem in EMD based gearbox multi-fault diagnosis. In this new method, the differential operation is introduced into the decomposition of the intrinsic mode functions. The decomposition ability of close frequency bands can be improved by the differential operation, and hence, the differential EMD can better identify the modes with close characteristic frequencies than its non-differential counterpart. In addition, time synchronous averaging (TSA) is combined with the differential EMD to address the noise issue. Thus, the proposed TAS and differential EMD based method (TDEMD) can solve the mode mixing problem to provide effective multi-fault detection for gearboxes. The TDEMD has been tested experimentally using vibration data collected from a gearbox with concurrent defects on two different gears. Results showed effective detection of gear multiple faults.

Concurrent Defects and Test Coverage Criteria

Concurrent Defects and Test Coverage Criteria

Synchronous Morgagni and Bochdalek Hernias: A Case Report of a Unique Approach to a Rare Finding

Introduction: Multiple unilateral congenital diaphragmatic hernias (CDH) are extremely rare, described only five times in the medical literature. Concurrent ipsilateral Bochdalek and Morgagni hernias are rarer still with only two cases previously described. In all reported cases of multiple concurrent defects, the hernias were repaired in an open fashion, either via a thoracotomy or laparotomy with both of the two combined Bochdalek and Morgagni hernias repaired via laparotomy. Case Presentation: In this case report we have a 2-day-old who developed respiratory distress and on CT scan was found to have a congenital diaphragmatic hernia (CDH) or eventration. This patient is ideal for this case report because he meets a lot of the previously established criteria for minimally invasive repair of congenital diaphragmatic hernias - minimal respiratory compromise, no congenital heart defects - and he has synchronous defects which have very rarely been seen before. Here we present the first reported case of concurrent ipsilateral Bochdalek and Morgagni hernias repaired in a one-stage minimally invasive fashion, approaching the Bochdalek hernia thoracoscopically and the Morgagni laparoscopically. The patient had a quick recovery post-operatively and he continues to do well. Conclusions: From this experience, we argue that in the right circumstances a completely minimally invasive approach can be taken for synchronous congenital diaphragmatic hernias.

Tricuspid atresia with atrial and ventricular septal defects in a foal

Tricuspid atresia or the right atrio-ventricular atresia, with concurrent atrial and ventricular septal defects, a rare congenital cardiac anomaly, was diagnosed in a three month old Arabian foal from Kuwait. The foal had been weak and cyanotic since birth, sometimes becoming dyspneic when stressed. Necropsy revealed a dilated and hypertrophied left ventricle and a small sized right ventricle. The right atrio-ventricular valve was absent. Mitral valve was wide and insufficient to retain blood in the left auricle. A septal defect connected the right and left auricles. Similarly, the right and left ventricles communicated via a large kidney shaped septal defect, located immediately below the aortic valve. These cardiac anomalies resulted in chronic venous congestion and cardiac cirrhosis, with effusions in the pleural and peritoneal cavities. The factors involved in the pathogenesis are discussed.

Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: A family case report

Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: A family case report