Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

High protein S activity due to C4b-binding protein deficiency in a 34-year-old Surinamese female with ischemic retinopathy.

ABSTRACT: In this study, we present the first case of a 34-year-old Surinamese female with ischemic retinopathy and increased free protein S due to C4BP deficiency. Possibly, the low PS/C4BP complex level has increased the risk of arterial thrombosis in our patient.

SUBMITTER: Mulder R

PROVIDER: S-EPMC5930216 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

High protein S activity due to C4b-binding protein deficiency in a 34-year-old Surinamese female with ischemic retinopathy.

Mulder René R de Vries Jeroen K JK Müskens Rogier P H M RPHM Mulder André B AB Lukens Michaël V MV

Clinical case reports 20180330 5

In this study, we present the first case of a 34-year-old Surinamese female with ischemic retinopathy and increased free protein S due to C4BP deficiency. Possibly, the low PS/C4BP complex level has increased the risk of arterial thrombosis in our patient. ...[more]

PMID: 29744091

Similar Datasets

Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections.

Project description:Deficiencies of the early components of the classical complement pathway impair the actions of innate and humoral immunity and may lead to increased susceptibility to infections. We have studied the genetic basis of total C4B deficiency in a Finnish patient with recurrent meningitis, chronic fistulas and abscesses. The maternal chromosome carried a four-gene deletion including the C4B gene, and a conversion from C4B to C4A gene was found on the paternal chromosome resulting in complete deficiency of C4B. In the converted C4A gene, mutation screening did not reveal any amino acid changes or prominent mutations, yet a large number of nucleotide variations were found. Further, the patient was heterozygous for structural deficiency of mannan binding lectin (MBL) associating with medium levels of serum MBL. Our data provides new information on the genetic instability of the C4 gene region, and on the association of homozygous C4B deficiency and variant MBL genotype with increased susceptibility to recurrent and chronic infections. Importantly, plasma therapy induced a prompt clinical cure with long-term effects.

| S-EPMC150532 | biostudies-literature

Left Ventricular Thrombus in a 34-year-old Female Seen on Point-of-care Ultrasound.

Project description: Not available

| S-EPMC6366381 | biostudies-literature

A 51-year-old female presenting with shock due to hemorrhagic cholecystitis.

Project description:Hemorrhagic cholecystitis is a rare cause of abdominal pain that can have dire consequences. We report a case of hemorrhagic cholecystitis in a 51-year-old female presenting as shock and abdominal pain. The patient was transported to the emergency room. Ultrasound scan revealed hemoperitoneum and cholecystitis features. On computed tomography, mild gallbladder wall thickening and high density materials in the gallbladder suggested acute calculous cholecystitis, bleeding tumor, or hemorrhagic cholecystitis. An urgent cystic arterial embolization and percutaneous transhepatic drainage were done. After initial stablization, laparoscopic cholecystectomy was performed that revealed a necrotic gallbladder filled with large blood clots. It was important for timely management by having an early recognition of this potentially fatal condition.

| S-EPMC7553886 | biostudies-literature

Ythdf2 deficiency in microglia induces retinal inflammation and microvascular anomalies to aggravate ischemic retinopathy

Project description:We used RNA-Seq to annotate aberrantly changed biological processes and signaling pathways induced by Ythdf2 loss in microglia isolated from the Ythdf2-/- and the Ythdf2fl/fl mice at P7

2024-09-29 | GSE256263 | GEO

Clinical features of patients with homozygous complement C4A or C4B deficiency.

Project description:IntroductionHomozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed. This study was aimed to characterize the clinical features of patients with homozygous C4A or C4B deficiency.Material and methodsThirty-two patients with no functional C4A, 87 patients with no C4B and 120 with normal amount of C4 genes were included. C4A and C4B numbers were assessed with genomic quantitative real-time PCR. Medical history was studied retrospectively from patients' files.ResultsNovel associations between homozygous C4A deficiency and lymphoma, coeliac disease and sarcoidosis were detected. These conditions were present in 12.5%, (4/32 in patients vs. 0.8%, 1/120, in controls, OR = 17.00, 95%CI = 1.83-158.04, p = 0.007), 12.5% (4/32 in patients vs. 0%, 0/120 in controls, OR = 1.14, 95%CI = 1.00-1.30, p = 0.002) and 12.5%, respectively (4/32 in patients vs. 2.5%, 3/120 in controls, OR = 5.571, 95%CI = 1.79-2.32, p = 0.036). In addition, C4A and C4B deficiencies were both associated with adverse drug reactions leading to drug discontinuation (34.4%, 11/32 in C4A-deficient patients vs. 14.2%, 17/120 in controls, OR = 3.174, 95%CI = 1.30-7.74, p = 0.009 and 28.7%, 25/87 in C4B-deficient patients, OR = 2.44, 95%CI = 1.22-4.88, p = 0.010).ConclusionThis reported cohort of homozygous deficiencies of C4A or C4B suggests that C4 deficiencies may have various unrecorded disease associations. C4 gene should be considered as a candidate gene in studying these selected disease associations.

| S-EPMC6013154 | biostudies-literature

Unusual Cause of Ischemic Heart Disease in a 34-Year Old Woman: Anomalous Left Coronary Artery From the Pulmonary Artery.

Project description: Not available

| S-EPMC10244187 | biostudies-literature

Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency.

Project description:Lipin-1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long-term outcome in adult patients with this disorder. We report the course and outcome of a 25-year-old female patient with lipin-1 deficiency after a recent episode of rhabdomyolysis requiring intensive care admission with a peak creatine kinase of 500 000 IU/L. One-year post discharge from intensive care, the patient has residual drop foot bilaterally consistent with bilateral common peroneal neuropathies in addition to a background residual distal myopathy.

| S-EPMC6498837 | biostudies-literature

Hereditary protein S deficiency leads to ischemic stroke.

Project description:Hereditary protein S (PS) deficiency is an independent risk factor for venous thromboembolism. However, the correlation between PS and arterial thrombotic disease, such as cerebral thrombosis, is not clear. The present study focused on the molecular mechanisms underlying ischemic stroke caused by a PS gene mutation in one family. The activity of antithrombin, protein C and PS in the plasma of the proband was measured, and the genes encoding PS were amplified and sequenced. The cellular localization and expression of PS were analyzed in HEK‑293 cells. The proband was a 50‑year‑old male. Plasma PS activity of the proband was 38.9%, which was significantly decreased compared with normal levels. Sequencing analysis revealed a PROS1 c.1486_1490delGATTA mutation on exon 12. This frameshift mutation converts Asp496 in the precursor PS into the termination codon. In addition, the PROS1 mutation was correlated with low PS activity in the family. Functional tests revealed that the mutant protein aggregated in the cytoplasm and its secretion and expression decreased. In conclusion, protein S mutation appeared to be the primary cause of thrombosis in the family of the present study. However, the correlation between PS deficiency and ischemic stroke requires further investigation.

| S-EPMC4526054 | biostudies-literature

Bilateral methamphetamine-induced ischemic retinopathy.

Project description:PurposeTo describe the multimodal imaging and treatment of a 37-year-old male presenting with bilateral ischemic retinopathy induced by methamphetamine abuse.ObservationsA 37-year-old male presented with progressively deteriorating vision and was found to have branch retinal artery occlusion and central retinal vein occlusion in both eyes along with secondary vitreous hemorrhage in the left eye following seven years of intermittent intranasal methamphetamine abuse. Fundus fluorescein angiography and optical coherence tomography angiography revealed large areas of non-perfusion in the peripheral retina along with peripapillary neovascularization. Systemic evaluation revealed ischemic foci scattered in the deep brain on magnetic resonance angiography scanning. Based on the retinal findings, the patient was diagnosed with methamphetamine-induced ischemic retinopathy. He received panretinal photocoagulation, which improved the vision in the right eye and vitreous hemorrhage in the left eye. The vision in the left eye remained stable.Conclusions and importanceThis case highlights that intranasal methamphetamine abuse is associated with bilateral simultaneous central retinal vein occlusion and branch retinal artery occlusion. To our knowledge, extensive bilateral ischemic retinopathy has not been documented previously with newer modalities. In addition, PRP may be considered for the treatment of ischemic retinopathy induced by methamphetamine abuse.

| S-EPMC6551529 | biostudies-literature