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Article ; Online: Clinical phenotype associated with variants in TANGO2: A case study.

Alghamdi, Fouad / Alharbi, Alanoud / Mohamed, Fatema / Alghamdi, Alaa / Bashir, Shahid

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

2023 Volume 30, Issue 6, Page(s) 438–440

Abstract: Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical ... ...

Abstract	Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical picture of a TANGO2 gene biallelic mutation involves encephalopathy and rhabdomyolysis and is marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy varies and can range from isolated language delay and cognitive impairment to multiple disabilities and spastic quadriparesis. A TANGO2 gene mutation causes serious illness with a limited life expectancy due to the unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. Currently, managing this disease is purely symptomatic. Here, we report the clinical features of a 10-year-old girl with mutations in the TANGO2 gene. Unique to our case was the lack of elevated creatine kinase during the early acute crises of cardiac failure and multi-organ failure, as well as the lack of any prior mental retardation associated with the aberrant heart rhythm.
MeSH term(s)	Humans ; Phenotype ; Brain Diseases ; Mutation ; Hypothyroidism/complications ; Rhabdomyolysis/diagnosis ; Rhabdomyolysis/genetics
Language	English
Publishing date	2023-06-30
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	1181947-9
ISSN	1769-664X ; 0929-693X
ISSN (online)	1769-664X
ISSN	0929-693X
DOI	10.1016/j.arcped.2023.04.008
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Zs.A 3942: Show issues

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Article ; Online: The impact of asymptomatic ventricular arrhythmias on the outcome of heart failure patients with reduced ejection fraction.

Sanhoury, Mohamed / Mohamed, Fatema / Sadaka, Mohamed / Abdel-Hay, Mohamed Ayman / Sobhy, Mohamed / Elwany, Mostafa

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology

2022 Volume 74, Issue 1, Page(s) 11

Abstract: Background: Ventricular arrhythmias cause a significant proportion of sudden deaths. Several studies demonstrate a high prevalence of ventricular arrhythmias in patients with heart failure regardless of the etiology. The aim of this study was to ... ...

Abstract	Background: Ventricular arrhythmias cause a significant proportion of sudden deaths. Several studies demonstrate a high prevalence of ventricular arrhythmias in patients with heart failure regardless of the etiology. The aim of this study was to determine the prevalence of silent ventricular arrhythmias in ambulatory heart failure patients with reduced left ventricular ejection fraction (HFrEF) and its correlation to the prognosis. Results: Four hundred (400) ambulatory HFrEF patients on maximum tolerated doses of heart failure medications were included. Holter monitoring for 7 days was done in all patients searching for silent ventricular arrhythmias. The patients were followed-up for one year to detect the occurrence of major adverse cardiovascular events. We divided the study population into 2 groups based on an LVEF cutoff value of 30% (Group A < 30%, Group B ≥ 30%). Holter monitoring revealed ventricular arrhythmias in 304 patients. Patients with left ventricular ejection fraction (EF) < 30% (Group A) had more complex ventricular arrhythmias in the form of frequent Premature ventricular contractions (PVCs) of ≥ 5% and or non-sustained ventricular tachycardia (NSVT) runs. Furthermore, Among Group A, more major cardiovascular events were observed. Multivariate regression analysis showed that frequent PVCs and severely reduced LVEF were the strongest independent predictors of major cardiovascular events. Conclusions: ventricular arrhythmias are common in HFrEF patients even in the compensated status. Both, left ventricular systolic function and the PVCs burden were found to be the strongest predictors of major adverse cardiovascular events.
Language	English
Publishing date	2022-02-16
Publishing country	Germany
Document type	Journal Article
ISSN	2090-911X
ISSN (online)	2090-911X
DOI	10.1186/s43044-022-00247-z
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Article ; Online: Pediatric acute liver failure in Saudi Arabia: prognostic indicators, outcomes and the role of genetic testing.

Alhadab, Abdulhamid / AlShihabi, Hadeel / Mohamed, Fatema / AlDuhilib, Zahra / Arain, Zahid / Bader, Razan

European journal of gastroenterology & hepatology

2022 Volume 35, Issue 4, Page(s) 420–430

Abstract: Objective: The objective of this study was to determine the etiologies, outcomes, prognostic indicators and the role of genetic testing in children with acute liver failure (ALF).: Methods: This retrospective study included 46 patients with pediatric ...

Abstract	Objective: The objective of this study was to determine the etiologies, outcomes, prognostic indicators and the role of genetic testing in children with acute liver failure (ALF). Methods: This retrospective study included 46 patients with pediatric acute liver failure (PALF) according to the PALF study group definition, admitted to King Fahad Specialist Hospital-Dammam, Saudi Arabia, between January 2014 and December 2021. Patients who survived with supportive therapy were designated as the recovery group, whereas those who died or underwent liver transplantation were designated as the death/transplant group. Results: There were 26 (56.5%) patients in the recovery group and 20 (43.5%) patients in the death/transplant group. Four patients (8.7%) underwent liver transplantation. After indeterminate causes (45.6%), genetic-metabolic diseases and drug-induced liver injury (DILI) were the most common cause with 15.2 and 13%, respectively. Genetic testing had a high yield of (6/31) in identifying monogenic disease associated with ALF. Younger age, lower Glasgow Coma Scale and higher international normalized ratio (INR) on admission were predictors for poor prognosis. The death/transplant group had longer intensive care unit stay ( P < 0.001), and on admission they had more advanced hepatic encephalopathy ( P < 0.005), more prolonged prothrombin time ( P < 0.001), higher lactate ( P < 0.006), higher total and direct bilirubin ( P < 0.008) and ( P < 0.001), respectively. Conclusion: Genetic, metabolic and DILI causes constituted the most common cause of PALF after indeterminate causes. The use of genetic testing can improve diagnostic rates in special cases, but we could not assess the effect of genetic testing on prognosis. The overall survival rate in our study was 65.2%. Younger age, higher admission INR and lower Glasgow coma scale were indicators of poor prognosis.
MeSH term(s)	Child ; Humans ; Prognosis ; Treatment Outcome ; Retrospective Studies ; Saudi Arabia ; Liver Failure, Acute/diagnosis ; Lactic Acid ; Genetic Testing
Chemical Substances	Lactic Acid (33X04XA5AT)
Language	English
Publishing date	2022-12-23
Publishing country	England
Document type	Journal Article
ZDB-ID	1034239-4
ISSN	1473-5687 ; 0954-691X
ISSN (online)	1473-5687
ISSN	0954-691X
DOI	10.1097/MEG.0000000000002499
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Zs.A 2932: Show issues

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Article: Retraction: Abdominal Cocoon: A Rare Complication of Peritoneal Dialysis in Chronic Kidney Disease.

Mohamed, Fatema Y / Alharbi, Yasser H / Almutairi, Mohammad N / Azi, Nawaf A / Aljreas, Alwaleed A / Alkhaldi, Eman J / Alanazi, Sulaiman H / Alanazi, Abdullah T / Alzahrany, Mohammad S / Alali, Ahmed A / Alharthi, Lujain H / Alkhalifah, Rabab K / Almarhoun, Razan M / Alkhadhabah, Hajar M / Al-Hawaj, Faisal

Cureus

2024 Volume 16, Issue 1, Page(s) r112

Abstract: This retracts the article DOI: 10.7759/cureus.20341.]. ...

Abstract	[This retracts the article DOI: 10.7759/cureus.20341.].
Language	English
Publishing date	2024-01-25
Publishing country	United States
Document type	Retraction of Publication
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.r112
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Article ; Online: Exacerbation of Coagulation and Cardiac Injury in Rats with Cisplatin-Induced Nephrotoxicity Following Intratracheal Instillation of Cerium Oxide Nanoparticles.

Nemmar, Abderrahim / Al-Salam, Suhail / Nuaman, Sara A / Kazim, Maitha / Mohamed, Fatema / Beegam, Sumaya / Yuvaraju, Priya / Yasin, Javed / Ali, Badreldin H

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology

2021 Volume 55, Issue 1, Page(s) 1–16

Abstract: Background/aims: Exposure to particulate air pollution is associated with increased cardiovascular morbidity and mortality. These effects are particularly aggravated in patients with pre-existing kidney diseases. Cerium oxide nanoparticles (CNPs), used ... ...

Abstract	Background/aims: Exposure to particulate air pollution is associated with increased cardiovascular morbidity and mortality. These effects are particularly aggravated in patients with pre-existing kidney diseases. Cerium oxide nanoparticles (CNPs), used as diesel fuel additives, are emitted in vehicle exhaust and affect humans when inhaled. However, thrombotic and cardiac injury resulting from pulmonary exposure to CNPs in experimental acute kidney injury (AKI) is not fully understood. The objective of the present study was to evaluate the thrombotic and cardiac injury effects of CNPs in a rat model of AKI. Methods: AKI was induced in rats by a single intraperitoneal injection of cisplatin (CDDP, 6 mg/kg). Six days after injection, rats were intratracheally (i.t.) instilled with either CNPs (1 mg/kg) or saline (control), and various cardiovascular variables and markers of inflammation, oxidative stress and DNA injury were assessed by enzyme linked immunosorbent assay, colorimetric assay, single-cell gel electrophoresis assay and immunohistochemistry, the following day. Results: Compared with individual CDDP or CNPs treatments, the combined CDDP + CNPs treatment elevated significantly the coagulation function, relative heart weight, and troponin I, lactate dehydrogenase, interleukin-6 (IL-6), tumor necrosis factor α (TNFα), and total nitric oxide levels in the plasma. In heart homogenates, the combination of CDDP and CNPs induced a significant increase in IL-6, TNFα, catalase, and glutathione. Furthermore, significantly more DNA damage was observed in this group than in the CDDP or CNPs groups. Immunohistochemical analysis of the heart revealed that expression of nuclear factor erythroid-derived 2-like 2 (Nrf2) and glutathione peroxidase by cardiac myocytes and endothelial cells was increased in the CDDP + CNPs group more than in either CDDP or CNPs group. Conclusion: I.t. administration of CNPs in rats with AKI exacerbated systemic inflammation, oxidative stress, and coagulation events. It also aggravated cardiac inflammation, DNA damage, and Nrf2 expression.
MeSH term(s)	Acute Kidney Injury/chemically induced ; Acute Kidney Injury/metabolism ; Acute Kidney Injury/pathology ; Animals ; Blood Coagulation/drug effects ; Cerium/toxicity ; Cisplatin/adverse effects ; Cisplatin/pharmacology ; Disease Models, Animal ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Heart Injuries/chemically induced ; Heart Injuries/metabolism ; Heart Injuries/pathology ; Male ; Myocardium/metabolism ; Myocardium/pathology ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; Nanoparticles/toxicity ; Rats ; Rats, Wistar
Chemical Substances	Cerium (30K4522N6T) ; ceric oxide (619G5K328Y) ; Cisplatin (Q20Q21Q62J)
Language	English
Publishing date	2021-01-14
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1067572-3
ISSN	1421-9778 ; 1015-8987
ISSN (online)	1421-9778
ISSN	1015-8987
DOI	10.33594/000000323
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Zs.A 3160: Show issues

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Article: Expression of Concern: Abdominal Cocoon: A Rare Complication of Peritoneal Dialysis in Chronic Kidney Disease.

Cureus

2022 Volume 14, Issue 4, Page(s) x34

Language	English
Publishing date	2022-04-07
Publishing country	United States
Document type	Expression of Concern
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.x34
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Article: Broken Kirschner Wires Can Migrate: A Case Report and Review of Literature.

Sadat-Ali, Mir / Shehri, Abdullah M / AlHassan, Mohammed A / AlTabash, Khalid / Mohamed, Fatema Abdul Mohsen / Aboutaleb, Mohamed Mokhles / AlGhanim, Ali A

Journal of orthopaedic case reports

2021 Volume 10, Issue 9, Page(s) 11–14

Abstract: Introduction: Kirschner wires are in use in orthopedic and trauma surgery since the past 80 years. These wires can break due to metal fatigue and migrate which can cause lethal complications.: Case report: A 27-year-old female sickle cell patient ... ...

Abstract	Introduction: Kirschner wires are in use in orthopedic and trauma surgery since the past 80 years. These wires can break due to metal fatigue and migrate which can cause lethal complications. Case report: A 27-year-old female sickle cell patient with avascular necrosis of the head of femur, drilling, and injection of the osteoblasts in the head of femur was being performed. A 2 cm of 2.0 mm proximal tip of the guide wire broke. Discussion started whether to leave the wire and the young decided to leave the broken wire, but the wisdom directed us to remove it. Conclusion: Migration of wires does occur, we believe not only broken wires should be removed but also even the unbroken wire to be removed once the purpose of use is achieved.
Language	English
Publishing date	2021-06-08
Publishing country	India
Document type	Case Reports
ZDB-ID	2658169-3
ISSN	2250-0685
ISSN	2250-0685
DOI	10.13107/jocr.2020.v10.i09.1884
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Article ; Online: Substrate- to Laterally-Driven Self-Assembly Steered by Cu Nanoclusters: The Case of FePcs on an Ultrathin Alumina Film.

Corva, Manuel / Mohamed, Fatema / Tomsic, Erika / Feng, Zhijing / Skala, Tomas / Comelli, Giovanni / Seriani, Nicola / Peressi, Maria / Vesselli, Erik

ACS nano

2018 Volume 12, Issue 11, Page(s) 10755–10763

Abstract: We show that, for the formation of a metallorganic monolayer, it is possible to artificially divert from substrate- to laterally-driven self-assembly mechanisms by properly tailoring the corrugation of the potential energy surface of the growth template. ...

Abstract	We show that, for the formation of a metallorganic monolayer, it is possible to artificially divert from substrate- to laterally-driven self-assembly mechanisms by properly tailoring the corrugation of the potential energy surface of the growth template. By exploiting the capability of an ultrathin alumina film to host metallic nanoparticle seeds, we tune the symmetry of a iron phthalocyanine (FePc) two-dimensional crystal, thus showing that it is possible to switch from trans to lateral dominating interactions in the controlled growth of an organic/inorganic heterostack. Finally, by selecting the size of the metallic clusters, we can also control the FePc-metal interaction strength.
Language	English
Publishing date	2018-09-17
Publishing country	United States
Document type	Journal Article
ISSN	1936-086X
ISSN (online)	1936-086X
DOI	10.1021/acsnano.8b05992
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Article: Abdominal Cocoon: A Rare Complication of Peritoneal Dialysis in Chronic Kidney Disease.

publication RETRACTED

Cureus

2021 Volume 13, Issue 12, Page(s) e20341

Abstract: The abdominal cocoon is a rare clinical entity characterized by a thick fibrocollagenous membrane encasing the intestinal loops. Despite its rarity, the abdominal cocoon is one of the most serious complications of peritoneal dialysis. We report the case ... ...

Abstract	The abdominal cocoon is a rare clinical entity characterized by a thick fibrocollagenous membrane encasing the intestinal loops. Despite its rarity, the abdominal cocoon is one of the most serious complications of peritoneal dialysis. We report the case of a 45-year-old man, with end-stage renal disease on peritoneal dialysis resulting from systemic lupus erythematosus, who presented to the emergency department with progressive abdominal pain for the last two weeks. The pain was associated with nausea, vomiting, abdominal distension, and decreased bowel motion. Upon examination, the vital signs were within the normal limits. Abdominal examination revealed a distended abdomen with generalized tenderness. There was evidence of ascites as indicated by the positive shifting dullness test. The bowel sounds were of increased frequency and intensity. The laboratory findings were non-contributory. The patient underwent an abdominal computed tomography scan that demonstrated a cluster of small intestinal loops in the middle of the abdomen with a surrounding thick and calcified membrane. This made the diagnosis of the abdominal cocoon. The patient underwent an operation to resect the fibrocollagenous membrane. The patient reported improvement after the operation. No recurrence was noted after three months of follow-up. Abdominal cocoon is a very rare complication of peritoneal dialysis. The diagnosis of abdominal cocoon should be kept in mind when the physician encounters a patient with peritoneal dialysis who presented with non-specific and unexplained gastrointestinal symptoms.
Language	English
Publishing date	2021-12-11
Publishing country	United States
Document type	Case Reports ; Retracted Publication
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.20341
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Article ; Online: Experimental and Theoretical Investigation of the Restructuring Process Induced by CO at Near Ambient Pressure: Pt Nanoclusters on Graphene/Ir(111).

Podda, Nicola / Corva, Manuel / Mohamed, Fatema / Feng, Zhijing / Dri, Carlo / Dvorák, Filip / Matolin, Vladimir / Comelli, Giovanni / Peressi, Maria / Vesselli, Erik

ACS nano

2016 Volume 11, Issue 1, Page(s) 1041–1053

Abstract: The adsorption of CO on Pt nanoclusters grown in a regular array on a template provided by the graphene/Ir(111) Moiré was investigated by means of infrared-visible sum frequency generation vibronic spectroscopy, scanning tunneling microscopy, X-ray ... ...

Abstract	The adsorption of CO on Pt nanoclusters grown in a regular array on a template provided by the graphene/Ir(111) Moiré was investigated by means of infrared-visible sum frequency generation vibronic spectroscopy, scanning tunneling microscopy, X-ray photoelectron spectroscopy from ultrahigh vacuum to near-ambient pressure, and ab initio simulations. Both terminally and bridge bonded CO species populate nonequivalent sites of the clusters, spanning from first to second-layer terraces to borders and edges, depending on the particle size and morphology and on the adsorption conditions. By combining experimental information and the results of the simulations, we observe a significant restructuring of the clusters. Additionally, above room temperature and at 0.1 mbar, Pt clusters catalyze the spillover of CO to the underlying graphene/Ir(111) interface.
Language	English
Publishing date	2016-12-30
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1936-086X
ISSN (online)	1936-086X
DOI	10.1021/acsnano.6b07876
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