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1.
Chemphyschem ; : e202400672, 2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39267598

ABSTRACT

Bacteriorhodopsin (bR) of purple membrane (PM) has increasing technical interests, particularly in photonic devices and bioelectronics. The present work has concerned with monitoring the temperature dependence of passive electric responses in-plane and out-of-plane of the membranes. Based on thermal properties observed orthogonally here for PM, a high-temperature intermediate of bR has been suggested to populate at around 60 °C, which may be ascribed to a molten globule-like state. This intermediate has been found to be enclosed between two reversible thermal transitions for PM. Large-scale turnover in the energy of activation, for these two thermal transitions, occurs steeply at such state at 60 °C, above which does bR reverse the sign of dielectric anisotropy (i.e. crossover) provided the operating frequency should be above the crossover frequency, at which the reversal occurs. No such crossover was found to occur below the crossover frequency, even above the crossover temperature (i.e. 60 °C). Likewise, no such crossover was found to occur below the crossover temperature, even above the crossover frequency. Relying on this reasoning, a logic gate operation may be declared implicating bR for bioelectronics and sense technological relevance. In addition, the results specify "dual frequency" as well as "dual temperature" characteristics to bacteriorhodopsin.

2.
J Pediatr Endocrinol Metab ; 37(1): 21-26, 2024 Jan 29.
Article in English | MEDLINE | ID: mdl-37966142

ABSTRACT

OBJECTIVES: This study was conducted to study the expression of both microRNA-29a and microRNA-122, and serum levels of sestrin-2, interleukin-6 (IL-6), and other inflammatory markers among obese children with/and without diabetes mellitus. METHODS: One hundred obese children with diabetes in addition to 100 age- and sex-matched obese children without diabetes, and 100 age- and sex-matched apparently healthy children were included in the study. Expressions of both microRNA-29a and microRNA-122, and serum levels of sestrin-2, IL-6, tumor necrosis factor-α (TNF-α), and high sensitive-CRP (hsCRP) were measured for all included study populations. RESULTS: Study results showed that the expressions of both microRNA-29a and microRNA-122, serum levels of IL-6, TNF-α, and hsCRP were significantly higher among obese children with diabetes in comparison to both obese children without diabetes and healthy children. In contrast, serum sestrin level was significantly low among obese children with diabetes in comparison to the other study populations. Expressions of both microRNA-29a and microRNA-122 were correlated with waist circumference, BMI, total cholesterol, triglycerides, LDL-cholesterol, HbA1c, c-peptide, glucose, insulin, homeostatic model assessment-insulin resistance (HOMA-IR), IL-6, hsCRP, and TNF-α among obese children with diabetes. However, serum sestrin-2 level was correlated inversely with these parameters. Higher expressions of both microRNA-29a and microRNA-122 among obese children either with or without diabetes mellitus (DM) can suggest their roles in the development of obesity among children. CONCLUSIONS: The study results can hypothesize that down-regulation of these micro-RNAs may solve this health problem with its sequelae, a hypothesis that needs more studies.


Subject(s)
Diabetes Mellitus , Insulin Resistance , MicroRNAs , Pediatric Obesity , Child , Humans , Blood Glucose , Body Mass Index , C-Reactive Protein/metabolism , Cholesterol , Interleukin-6 , MicroRNAs/genetics , Pediatric Obesity/complications , Pediatric Obesity/genetics , Sestrins , Tumor Necrosis Factor-alpha
3.
Nanoscale Adv ; 5(20): 5499-5512, 2023 Oct 10.
Article in English | MEDLINE | ID: mdl-37822908

ABSTRACT

The development of metal-free supercapacitor electrodes with a high energy density is a crucial requirement in the global shift towards sustainable energy sources and industrial pursuit of an optimal supercapacitor. Indeed, from an industrial perspective, time assumes a paramount role in the manufacturing process. A majority of synthesis methods employed for the fabrication of carbon xerogel-based supercapacitor electrodes are characterized by prolonged durations, and result in relatively poor energy and power density. These limitations hinder their practical applications and impede their widespread manufacturing capabilities. In this study, carbon xerogel-based supercapacitor electrodes were made in the shortest time ever reported by making the condition highly acidic with hydrochloric acid (HCl). Furthermore, the investigation of the effect of HCl concentrations (0.1 M, 0.05 M, and 0.01 M) on the morphology and electrochemical behavior of the prepared samples is reported herein. Interestingly, the highest concentration of HCl developed the highest BET surface area, 1032 m2 g-1, which enforced the capacitive behavior to deliver a specific capacitance of 402 F g-1 at 1 A g-1 and a capacitance retention of 80.8% at a current density of 2 A g-1 in an electrolyte containing 0.5 M H2SO4 + 0.5 M Na2SO4. Moreover, an impressive energy density of 45 W h kg-1 at a power density of 18.2 kW kg-1 was achieved. Interestingly, as the HCl concentration increased, the equivalent series resistance decreased to 3.9 W with carbon xerogel 0.1 M HCl (CX0.1). The superior performance of CX0.1 may be attributed to its enlarged BET surface area, pore volume, pore diameter, and smaller particle size. This work provides a facile approach for the large-scale production of metal-free carbon supercapacitor electrodes with improved performance and stability and opens novel horizons to explore the impacts of many types of catalysts during the carbon xerogel preparation.

4.
ACS Omega ; 7(38): 34127-34135, 2022 Sep 27.
Article in English | MEDLINE | ID: mdl-36188318

ABSTRACT

Glassy carbon electrode (GCE) was electrochemically activated using a repetitive cyclic voltammetric technique to develop an activated glassy carbon electrode (AGCE). The developed AGCE was optimized and utilized for the electrochemical assay of 4-nitrophenol (4-NP) and dopamine (DA). Cyclic voltammetry (CV) was employed to investigate the electrochemical behavior of the AGCE. Compared to the bare GCE, the developed AGCE exhibits a significant increase in redox peak currents of 4-NP and DA, which indicates that the AGCE significantly improves the electrocatalytic reduction of 4-NP and oxidation of DA. The electrochemical signature of the activation process could be directly associated with the formation of oxygen-containing surface functional groups (OxSFGs), which are the main reason for the improved electron transfer ability and the enhancement of the electrocatalytic activity of the AGCE. The effects of various parameters on the voltammetric responses of the AGCE toward 4-NP and DA were studied and optimized, including the pH, scan rate, and accumulation time. Differential pulse voltammetry (DPV) was also utilized to investigate the analytical performance of the AGCE sensing platform. The optimized AGCE exhibited linear responses over the concentration ranges of 0.04-65 µM and 65-370 µM toward 4-NP with a lower limit of detection (LOD) of 0.02 µM (S/N = 3). Additionally, the AGCE exhibited a linear responses over the concentration ranges of 0.02-1.0 and 1.0-100 µM toward DA with a lower limit of detection (LOD) of 0.01 µM (S/N = 3). Moreover, the developed AGCE-based 4-NP and DA sensors are distinguished by their high sensitivity, excellent selectivity, and repeatability. The developed sensors were successfully applied for the determination of 4-NP and DA in real samples with satisfactory recovery results.

5.
Anal Chem ; 92(11): 7947-7954, 2020 06 02.
Article in English | MEDLINE | ID: mdl-32383384

ABSTRACT

Several reports in the literature deal with the modification of glassy carbon electrode (GCE) surface via electropolymerization of some organic monomers, particularly p-aminobenzenesulfonic acid (p-ABSA) and l-cysteine using intensive oxidative conditions, and attributed the improved electrocatalytic activities toward various analytes to the formation of the electropolymerized layer. What is the real cause for this improvement in electrocatalytic activity? Is it because of the electrochemical activation process of GCE or electropolymerization? Combining a set of surface and electrochemical characterization techniques, we first showed that the electrochemical peaks previously assigned in many reports to electropolymerization processes at the surface of GCE correspond to electrochemical activation of the GCE surface. We further demonstrated that the anodization of GCE at high voltage causes activation of its surface and the formation of surface functional groups (SFGs). In fact, those SFGs are found to be the main reason for the enhancement in electrocatalytic activity of the activated GCE (AGCE). The surface features of the modified electrodes were characterized by Raman spectroscopy, attenuated total reflectance Fourier transform infrared spectroscopy (ATR-FTIR), scanning electron microscopy (SEM), and energy-dispersive X-ray spectroscopy (EDX). The electrochemical behavior was investigated using cyclic voltammetry (CV). The analytical performance of AGCE toward dopamine (DA) was assessed using differential pulse voltammetry (DPV). As compared to the previously reported dopamine electrochemical sensors assuming such electropolymerization processes, the AGCE showed analytical performance practically similar to that of these sensors. This further confirms that the enhancement in electrocatalytic activity is due to the electrochemical activation of the GCE surface.

6.
Diabetes Metab Res Rev ; 36(5): e3299, 2020 07.
Article in English | MEDLINE | ID: mdl-32043290

ABSTRACT

BACKGROUND AND OBJECTIVE: Diabetic nephropathy (DN) is the most common cause of end stage renal failure or even death among patients with type 2 diabetes mellitus. Genetic predisposition is widely studied among these patients to identify manageable aspects of the disease pathogenesis. This study was carried out to test the association of engulfment and cell motility 1 (ELMO1) gene polymorphism with DN among Egyptians. ELMO1 is required for phagocytosis of apoptotic cells and cell motility. METHODS: This case-control study was conducted on type 2 diabetic patients who attended Suez Canal University Hospital, Egypt, between November 2016 and October 2017. Peripheral blood was collected from 200 diabetic patients (without nephropathy), 200 patients with DN, and 100 healthy controls for DNA extraction. The single nucleotide polymorphism of ELMO1 (rs741301) was genotyped using real-time polymerase chain reaction and the allele discrimination technique. RESULTS: GG genotype was significantly associated with DN (odds ratio [OR] = 2.7; 95% confidence interval [CI]: 1.4-5.3) (P = .016). The OR for the high-risk allele (G) was 1.9 with 95% CI from 1.5 to 2.9 (P < .001). CONCLUSION: ELMO1 gene (rs741301) polymorphism is a candidate variant in the predisposition to DN.


Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Biomarkers/analysis , Diabetes Mellitus, Type 2/complications , Diabetic Nephropathies/etiology , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Blood Glucose/analysis , Diabetic Nephropathies/epidemiology , Diabetic Nephropathies/pathology , Egypt/epidemiology , Female , Follow-Up Studies , Humans , Male , Middle Aged , Prognosis
7.
N Engl J Med ; 382(3): 256-265, 2020 01 16.
Article in English | MEDLINE | ID: mdl-31940699

ABSTRACT

Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on USP18. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).


Subject(s)
Hereditary Autoinflammatory Diseases/drug therapy , Interferons/metabolism , Interleukins/metabolism , Janus Kinase 1/antagonists & inhibitors , Janus Kinase Inhibitors/therapeutic use , Loss of Function Mutation , Pyrazoles/therapeutic use , Ubiquitin Thiolesterase/deficiency , Homozygote , Humans , Hydrocephalus/genetics , Infant, Newborn , Male , Nitriles , Pyrimidines , Receptors, Interferon/metabolism , Remission Induction , Shock, Septic/genetics , Signal Transduction/genetics , Ubiquitin Thiolesterase/genetics , Exome Sequencing
8.
Neurosciences (Riyadh) ; 24(4): 257-263, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31872803

ABSTRACT

OBJECTIVE: To review the experience of 2 tertiary centers in Saudi Arabia with intracranial hypertension (IH) in the pediatric population. METHODS: We retrospectively reviewed and analyzed pediatric patients diagnosed with IH from June 2002 to May 2017 in 2 institutes. RESULTS: We identified 53 patients (30 females and 23 males) with a mean age of 7 years at the time of presentation. Among them, 41 patients were younger than 12 years, and 12 were older. Obese and overweight patients constituted 27.00% (n = 14) of all cases, 8 (66.7%) of whom were older than 12 years. The most common presenting feature was papilledema followed by headache. Vitamin D deficiency, which constituted the most common associated condition, was identified in 12 (22.6%) patients. Acetazolamide was the treatment option in 98.11% of patients, and only 5.7% underwent surgical interventions. The length of follow-up ranged from 6 months to 8 years. CONCLUSION: Intracranial hypertension is rare in children and commonly seen in overweight females older than 12 years similar to adults. Patients younger than 12 years tend to develop secondary IH. More studies are needed to characterize the clinical presentation and guide the management plan.


Subject(s)
Headache/epidemiology , Intracranial Hypertension/complications , Obesity/epidemiology , Papilledema/epidemiology , Vitamin D Deficiency/epidemiology , Acetazolamide/therapeutic use , Child , Child, Preschool , Diuretics/therapeutic use , Female , Hospitals, Pediatric/statistics & numerical data , Humans , Infant , Intracranial Hypertension/drug therapy , Intracranial Hypertension/epidemiology , Intracranial Hypertension/pathology , Male , Saudi Arabia , Tertiary Care Centers/statistics & numerical data
9.
Biochem Genet ; 57(1): 170-191, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30074102

ABSTRACT

Egypt is a transcontinental country containing substantial ethnic, cultural, and linguistic diversity among its people. This study was conducted to investigate the genetic variation at 15 AmpFlSTR Identifiler short tandem repeat (STR) loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA, within and between seven Egyptian populations. Samples of 814 unrelated individuals from Northern Coast, Delta, Greater Cairo, Canal governorates, Northern Upper Egypt, Southern Upper Egypt, and Sinai were investigated. All loci were highly polymorphic in all sample populations. The data were analyzed to give information on allele frequencies and other population statistical parameters. After applying Bonferroni correction, the agreement with Hardy-Weinberg equilibrium (HWE) was confirmed for all loci (exact test), and for all loci with the exception of D3S1358, D19S433, and D18S51 (X2 test). The levels of genetic differentiation and the genetic relationships among populations were evaluated by coefficient of genetic differentiation (FST), AMOVA, and genetic distance of Nei. The most differentiated populations were found between Sinai and Southern Upper Egypt. These two populations showed the lowest within-population variation, whereas the population of Greater Cairo showed the highest within-population variation as indicated by the fixation index FIS. The varying levels of genetic relatedness among the populations in relation to their geographical distribution were analyzed using Mantel test. The results demonstrated that the effectiveness of STR markers enhances their value for identifying the genetic variation within and between Egyptian populations.


Subject(s)
Genetic Loci/genetics , Genetic Variation , Microsatellite Repeats/genetics , Egypt , Humans
10.
J Intensive Care Med ; 34(6): 503-510, 2019 Jun.
Article in English | MEDLINE | ID: mdl-28403662

ABSTRACT

OBJECTIVES: Study of inflammatory biomarkers which may aid in early detection of ventilator-associated pneumonia (VAP) in children and predicting their outcome. PATIENTS: Thirty-five children, aged 2 months to 13 years, needed mechanical ventilation (MV) for more than 48 hours due to causes other than pneumonia. METHODS: Measurement of serum amyloid A (SAA) protein, soluble intercellular adhesion molecule 1 (sICAM-1), and C-reactive protein (CRP), modified clinical pulmonary infection score (CPIS) and performing culture of endotracheal aspirate at the start and on the third day of MV. RESULTS: Ventilator-associated pneumonia was diagnosed by CPIS in 6 (17.1%) of 35 patients. On the third day of MV, there was a significant increase in serum mean levels of SAA, sICAM-1, and CRP in comparison to the start of MV ( P = .005, .004, and .01, respectively). Three (50%) of 6 patients with VAP died, while 4 (14.28%) of 28 patients without VAP died. The sensitivity of serum SAA, sICAM-1, and CPIS were 100% for predicting VAP, while specificity was highest for CPIS (96.55%) followed by SAA (93.1%). Combination of CPIS and SAA increased the specificity to 100%. For predicting nonsurvival, serum SAA and sICAM-1 had a sensitivity of 100% and a specificity of 92.86% and 89.29%, respectively. CONCLUSION: Serum amyloid A and sICAM-1 may be considered as reliable markers for detection of VAP. Combination of serum SAA with CPIS increased the specificity to 100%. Measurement of SAA in patients with VAP also had a good predictive value for nonsurvival in such patients.


Subject(s)
Intercellular Adhesion Molecule-1/blood , Pneumonia, Ventilator-Associated/blood , Respiration, Artificial/adverse effects , Serum Amyloid A Protein/metabolism , Biomarkers/blood , Child , Child, Preschool , Egypt , Humans , Infant , Intensive Care Units , Male , Pneumonia, Ventilator-Associated/physiopathology , Pneumonia, Ventilator-Associated/therapy , Predictive Value of Tests , Prognosis , Prospective Studies
11.
Diabetes Metab Syndr ; 12(5): 711-714, 2018 Sep.
Article in English | MEDLINE | ID: mdl-29699951

ABSTRACT

BACKGROUND: Metabolic syndrome (MS) is considered one of the major worldwide epidemics. It accounts for billions of cardiovascular disease events and deaths. Till now, major basics of MS are not fully clarified. Peroxisome Proliferator-Activated Receptor-α (PPARα) displays a ligand-activated transcription factor. It is involved in the regulation of many metabolic processes including inflammation, lipid, and glucose metabolism. Therefore, this study investigated the leucocytic expression of PPARα in a metabolic patient in comparison to healthy controls. METHODS: 100 subjects with MS were recruited, in addition to 100 subjects without any obvious metabolic disorders as healthy controls. Expression of PPARα and CD 36 were analyzed on different leucocytic populations using optimized flow-cytometric analysis. Correlations of the expression of both indexes with different clinical and laboratory parameters were analyzed. RESULTS: The eosinophilic expression of PPARα was found to be lower in subjects with MS in comparison to the healthy controls (p value 0.001). Also, PPARα expression, on most of the leucocytic populations, was inversely correlated with waist circumferences among the study populations. CONCLUSION: Circulated eosinophilic expression of PPARα protein is reduced in MS subjects. This conclusion may explain the endothelial dysfunction and obesity associated with MS, as well as it may help in the management of this worldwide health problem.


Subject(s)
Eosinophils/metabolism , Leukocytes, Mononuclear/metabolism , Metabolic Syndrome/blood , Metabolic Syndrome/diagnosis , PPAR alpha/biosynthesis , PPAR alpha/blood , Adult , Case-Control Studies , Egypt/epidemiology , Female , Gene Expression Regulation , Humans , Male , Metabolic Syndrome/epidemiology , Middle Aged , PPAR alpha/genetics
12.
ACS Appl Mater Interfaces ; 9(33): 27918-27926, 2017 Aug 23.
Article in English | MEDLINE | ID: mdl-28621530

ABSTRACT

A facile one-pot, bottom-up approach to construct composite materials of graphene and a pyrimidine-based porous-organic polymer (PyPOP), as host for immobilizing human hemoglobin (Hb) biofunctional molecules, is reported. The graphene was selected because of its excellent electrical conductivity, while the PyPOP was utilized because of its pronounced permanent microporosity and chemical functionality. This approach enabled enclathration of the hemoglobin within the microporous composite through a ship-in-a-bottle process, where the composite of the PyPOP@G was constructed from its molecular precursors, under mild reaction conditions. The composite-enclathrated Fe-protoporphyrin-IX demonstrated electrocatalytic activity toward oxygen reduction, as a functional metallocomplex, yet with a distinct microenvironment provided by the globin protein. This approach delineates a pathway for platform microporous functional solids, where fine-tuning of functionality is facilitated by judicious choice of the active host molecules or complexes, targeting specific application.


Subject(s)
Oxygen/chemistry , Graphite , Hemoglobins , Humans , Polymers , Porosity
13.
J Infect Public Health ; 10(6): 761-765, 2017.
Article in English | MEDLINE | ID: mdl-28196636

ABSTRACT

Co-infection of schistosomiasis, HBV and HCV is common in countries where schistosomiasis is endemic. Occult hepatitis B occurs in patients at high risk for HBV infection (e.g., patients on hemodialysis, patients receiving blood transfusions). Schistosomal infection is a risk factor of HBV infection that can increase the incidence of occult hepatitis B. We aimed to determine the prevalence of occult hepatitis B in chronic hepatitis C patients with and without schistosomiasis and to assess the effect of schistosomal infection on the increased risk of exposure to HBV infection and to occult hepatitis B. Two hundred chronic hepatitis C patients who were negative for HBsAg participated. All patients were tested for the following: Anti-schistosome antibodies, Anti-HBc, serum HBV DNA, CBC and liver function. The prevalence of occult hepatitis B in CHC patients with/without schistosomiasis were 12.8% and 8.5% (P=0.042), respectively. Next, 63.8% of CHC patients with schistosomiasis were exposed to HBV infection (Anti-HBc +ve) during their lifetime. In conclusion, the prevalence of occult hepatitis B is higher in CHC patients with schistosomiasis compared to those without schistosomiasis. Periodic laboratory investigations of Schistosoma mansoni, HBV and HCV are recommended for the early detection of the infection and, especially in endemic areas, to avoid infection complications.


Subject(s)
Hepatitis B/epidemiology , Hepatitis C, Chronic/complications , Schistosomiasis mansoni/complications , Animals , Antibodies, Helminth/blood , Blood Cell Count , DNA, Viral/blood , Egypt/epidemiology , Female , Hepatitis B Antibodies/blood , Hepatitis B Surface Antigens/blood , Humans , Incidence , Liver Function Tests , Male , Middle Aged , Prevalence , Surveys and Questionnaires
14.
Sci Rep ; 6: 22056, 2016 Feb 26.
Article in English | MEDLINE | ID: mdl-26916054

ABSTRACT

Graphite is a typical electrocatalyst support in alkaline energy conversion and storage devices such as fuel cells, supercapacitores and lithium ion batteries. The electrochemical behaviour of a graphite electrode in 0.5 M NaOH was studied to elucidate its surface structure/electrochemical activity relationship. Graphite voltammograms are characterized by an anodic shoulder AI and a cathodic peak CI in addition to the oxygen reduction reaction plateaus, PI and PII. AI and CI were attributed to oxidation and reduction of some graphite surface function groups, respectively. Rotating ring disk electrode (RRDE) study revealed two different oxygen types assigned as inner and outer oxygen. The inner oxygen was reduced via the more efficient 4-electron pathway. The outer oxygen reduction proceeded with a lower efficient 2-electron pathway. The calculated percentages of the 4-electron pathway were ranged from 70% to 90%. A full mechanism for the graphite surface function groups changes over the studied potential window was suggested through the combination between the voltammetric, FT-IR and Raman results.

15.
Sudan J Paediatr ; 16(2): 67-76, 2016.
Article in English | MEDLINE | ID: mdl-28096561

ABSTRACT

Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in children. It is characterized by raised intracranial pressure (ICP) in the absence of brain parenchymal lesion, vascular malformations, hydrocephalus, or central nervous system (CNS) infection. The diagnosis is usually confirmed by high opening pressure of cerebrospinal fluid (CSF) with exclusion of secondary causes of intracranial hypertension. If not treated properly, it may lead to severe visual dysfunction. Here we review the etiology, clinical presentation, diagnostic criteria and management of IIH in children through illustration of the clinical and radiological presentation of a 13-year-old overweight girl who presented with severe headache, diplopia and bilateral papilledema. Otherwise, she had unremarkable neurological and systemic examinations. Lumbar puncture showed a high CSF opening pressure (360-540 mmH2O). Her investigations showed normal complete blood count (CBC), normal renal, liver, and thyroid function tests. Cerebrospinal fluid (CSF) and blood chemistry were unremarkable. Magnetic resonant image (MRI) of the brain demonstrated empty sella turcica, tortuous optic nerves, and flattening of the posterior sclera. Magnetic resonant venography (MRV) showed focal narrowing of the distal transverse sinuses and absence of venous sinus thrombosis. She required treatment with acetazolamide and prednisolone. With medical treatment, weight reduction, and exercise, our patient had a remarkable improvement in her symptoms with resolution of papilledema in two months. This review highlights the importance of early recognition and management of IIH to prevent permanent visual loss.

16.
Saudi Med J ; 36(11): 1354-7, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26593172

ABSTRACT

Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was mis-diagnosed as cerebral palsy (CP). He presented to our institute with encephalopathy following an episode of gastroenteritis. His physical examination showed dystonia and spastic quadriplegia. His investigations revealed elevated both urinary 3-hydroxy glutaric acid, and serum glutarylcarnitine. The DNA analysis confirmed homozygosity for a mutation in the GCDH-coding gene (c.482G greater than A; p.R161Q). This case alerts pediatricians to consider GA1 as a differential diagnosis of children presenting with dystonic CP.


Subject(s)
Amino Acid Metabolism, Inborn Errors/complications , Brain Diseases, Metabolic/complications , Cerebral Palsy/etiology , Glutaryl-CoA Dehydrogenase/deficiency , Humans , Infant , Male
17.
Mov Disord Clin Pract ; 2(1): 56-60, 2015 Mar.
Article in English | MEDLINE | ID: mdl-30713878

ABSTRACT

Mutations in the fatty-acid 2-hydroxylase (FA2H) gene cause an autosomal recessive spastic paraplegia (SPG35), often associating with cerebellar ataxia; cerebral MRI may show iron accumulation in the basal ganglia, leading to the inclusion of SPG35 among the causes of neurodegeneration with brain iron accumulation. This finding was initially considered strongly relevant for diagnosis, although its frequency is not yet established. We found 5 novel patients (from two families) with mutations in the FA2H gene: none of them showed cerebral iron accumulation (T2-weighted images performed in all; T2 gradient-echo in 2); notably, in 1 case, iron accumulation was absent even after 18 years from disease onset on both T2 gradient-echo and susceptibility-weight MRI sequences. Cerebral iron accumulation is not a prominent feature in SPG35 and is not always dependent on disease duration; its absence should not discourage from evoking this diagnosis.

18.
Br J Ophthalmol ; 98(7): 889-93, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24522175

ABSTRACT

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) refers to genetically heterogenous paediatric neurodegenerative disorders characterised by basal ganglia iron deposition. One major cause is recessive mutations in the PLA2G6 gene. While strabismus and optic nerve pallor have been reported for PLA2G6-related disease, the ophthalmic phenotype is not carefully defined. In this study we characterise the ophthalmic phenotype of PLA2G6-related NBIA. METHODS: Prospective cohort study. RESULTS: The eight patients were 4-26 years old when examined. All had progressive cognitive and motor regression first noted between 9 months and 6 years of age that typically first manifested as difficulty walking (ataxia). Ophthalmic examination was sometimes limited by cognitive ability. Four of eight had exotropia, 7/7 bilateral supraduction defect, 5/7 poor convergence, 6/8 saccadic pursuit, 4/8 saccadic intrusions that resembled square-wave jerks, and 8/8 bilateral optic nerve head pallor. All patients lacked Bell phenomenon. CONCLUSIONS: Upgaze palsy, although not a previously reported finding, was confirmed in all patients (except in one for whom assessment could not be performed) and thus can be considered part of the phenotype in children and young adults. Other frequent findings not previously highlighted were abnormal convergence, saccadic pursuit, and saccadic intrusions. Optic nerve head pallor and strabismus, previously reported findings in the disease, were found in 100% and 50% of our cohort, respectively, and the strabismus in our series was always exotropia. Taken together, these clinical findings may be helpful in distinguishing PLA2G6-related neurodegeneration from the other major cause of NBIA, recessive PANK2 mutations.


Subject(s)
Cognition Disorders/diagnosis , Exotropia/diagnosis , Group VI Phospholipases A2/genetics , Iron Metabolism Disorders/diagnosis , Mutation , Neuroaxonal Dystrophies/diagnosis , Adolescent , Adult , Basal Ganglia/metabolism , Basal Ganglia/pathology , Child , Child, Preschool , Cognition Disorders/genetics , Cohort Studies , Consanguinity , Exotropia/genetics , Female , Humans , Iron Metabolism Disorders/genetics , Magnetic Resonance Imaging , Male , Neuroaxonal Dystrophies/genetics , Ophthalmoscopy , Prospective Studies , Refraction, Ocular/physiology , Saccades , Young Adult
19.
J Egypt Soc Parasitol ; 44(2): 343-50, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25597148

ABSTRACT

Surgical hepatic resection has been considered as the first-line treatment which is most effective and radical treatment for HCC, however, HCC is usually associated with poor liver function owing to chronic hepatitis or liver cirrhosis. Techniques that can eradicate the tumor and also preserve liver function are needed. Moreover, hepatic resection, in the presence of cirrhosis, raises special problem of high risk as hemorrhage and liver failure, thus, good clinical results can only be achieved by minimizing operative blood loss, time of the intervention as well as the hepatic reserve. The tremendous progress in microwave technology has recently attracted considerable attention. This study evaluated the feasibility of this new liver transection technique demonstrating the high performance of this procedure, the accuracy in terms of squeeze effect on veins and portal branch and in terms of reducing the intra operative blood loss, and minimizing the operative time for safe hepatectomy. Twenty-six consecutive patients a first-time diagnosis of hepatocellular carcinoma (HCC) on top of liver cirrhosis were recruited for the study, from August 2011 to January 2013. All patients were subjected to full clinical examination, laboratory investigations, abdomen ultrasound (U/S), triphasic computed tomographic liver scan (CT) and dynamic magnetic resonance imaging (MRI) in some doubtful cases. Inclusion requirements were presence of resectable disease without vascular invasion or extrahepatic spread at imaging, Child-Pugh class A & B (Score 7) liver cirrhosis, (INR) < 1.6 or platelet count) 60 000/mm3 with no previous treatment. Patients were treated by applying pre-coagulation of the liver transection lines using microwave probe positioned in parallel to the line of resection by open approach after intra-operative U/S assessment for localization of the tumor and line of resection. The procedures were performed under general anesthesia. Mobilization of the liver was not necessary to be done in all cases. Intra-operative ultrasound (Aloka, Tokyo, Japan) was used to exclude lesions not detected pre-operatively (operative surprise), to define the location, number and size of the tumor and to identify large intra-hepatic large vascular and biliary structures, and guide insertion of the microwave applicator. Intraoperative ultrasound was used again, to assess that the line of resection was done. Primary endpoints documented were total operative time, time for liver parenchyma transection, intraoperative blood loss and blood transfusion requirements. Secondary endpoints included postoperative complications, mortality and intensive care unit (ICU) together with hospital stay.


Subject(s)
Carcinoma, Hepatocellular/surgery , Hepatectomy/methods , Liver Cirrhosis/complications , Liver Neoplasms/surgery , Liver/surgery , Microwaves , Adult , Aged , Carcinoma, Hepatocellular/complications , Female , Humans , Liver/pathology , Liver Neoplasms/complications , Male , Middle Aged
20.
Sudan J Paediatr ; 14(2): 61-70, 2014.
Article in English | MEDLINE | ID: mdl-27493406

ABSTRACT

The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple congenital anomalies including facial dysmorphism, skin hypopigmentation, musculoskeletal, and nervous system abnormalities. The latter manifested as hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation. The facial phenotype coupled with the bilateral globus pallidi lesions were never been reported in association with HI. Thus, our patient represents a possible novel example of HI.

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