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1.
Saudi Dent J ; 36(9): 1209-1214, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39286584

ABSTRACT

Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions. Purpose: This study reports the physical, oro-dental, and molecular findings of two new sibs with GAPO syndrome and provides a description of the dental phenotype of one of the patients reported before. Materials & Methods: The patients were subjected to full medical history taking and three generations-pedigree construction. They were phenotyped according to the elements of morphology: Standard terminology series. After parental consents were acquired, molecular analysis was carried out for the two sibs (Patient 1 & 2). Results: These included a new gene variant associated with erupted teeth in GAPO syndrome and new clinical features. A new classification for the terminologies of eruption disturbances was suggested. Conclusion: The study asserts the importance of oro-dental examination and follow-ups as dental updates may occur in these cases.

2.
Curr Probl Cardiol ; 49(11): 102777, 2024 Nov.
Article in English | MEDLINE | ID: mdl-39103132

ABSTRACT

BACKGROUND: Cardiogenic shock (CS) is associated with significant morbidity and mortality. Sex differences in the outcomes and management of cardiogenic shock are not well established. The primary objective of this study is to investigate the differences inik cardiogenic shock outcomes between males and females. METHODS: A systematic review and meta-analysis were conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. Studies were searched via the MEDLINE/PubMed, EMBASE, and Cochrane Central Register of Controlled Trials databases from inception to December 2022. RESULTS: The analysis included 24 studies comprising 1,567,660 patients. Compared to females, males with CS had a significantly lower risk of in-hospital all-cause mortality (risk ratio [RR] 0.88, 95 % confidence interval [CI] 0.85-0.90, p < 0.001) and 1-year mortality (RR 0.90, 95 % CI 0.89-0.92, p < 0.001). Males were more likely to undergo percutaneous coronary intervention (RR 1.21, 95 % CI 1.13-1.31, p < 0.0001) and intra-aortic balloon pump placement (RR 1.21, 95 % CI 1.11-1.32, p < 0.0001), with no significant sex differences in the use of extracorporeal membrane oxygenation or Impella. During the index hospitalization, males were at higher risk of arrhythmias (RR 1.18, 95 % CI 1.05-1.34, p = 0.003) and less likely to develop acute kidney injury (RR 0.86, 95 % CI 0.79-0.94, p < 0.001). CONCLUSION: Men have a lower all-cause mortality risk in cardiogenic shock. Addressing disparities in management is crucial for improving CS outcomes, especially for women.


Subject(s)
Shock, Cardiogenic , Humans , Shock, Cardiogenic/therapy , Shock, Cardiogenic/mortality , Sex Factors , Female , Male , Hospital Mortality/trends , Disease Management , Intra-Aortic Balloon Pumping/methods , Intra-Aortic Balloon Pumping/statistics & numerical data , Treatment Outcome
3.
Arch Oral Biol ; 167: 106054, 2024 Nov.
Article in English | MEDLINE | ID: mdl-39079473

ABSTRACT

OBJECTIVES: Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth. STUDY DESIGN: The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered. RESULTS: No pathogenic variants were detected in C1S and C1R genes then ES revealed a new homozygous missense variant in the CAT gene segregating in the family, c .635 T > G (p.Met212Arg). CONCLUSION: We describe the first Egyptian cases with acatalasemia and expand the mutational spectrum of this rare disorder. Premature loss of teeth is an emerging finding in our cases and addresses the hazardous systemic manifestations associated with the disorder. The rarity of inherited orodental diseases renders the accurate diagnosis difficult and complicates the symptoms. Therefore, the use of advanced molecular technologies is highly advisable for early diagnosis and management of patients.


Subject(s)
Acatalasia , Catalase , Mutation, Missense , Pedigree , Periodontitis , Adolescent , Child , Female , Humans , Male , Acatalasia/complications , Acatalasia/genetics , Catalase/genetics , Consanguinity , Egypt , Exome Sequencing , Gangrene/genetics , Oral Ulcer/genetics , Periodontitis/complications , Periodontitis/genetics
4.
Heliyon ; 10(13): e33993, 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39071580

ABSTRACT

Background: Quetiapine (QET) abuse has increased due to its anxiolytic and hedonic effects, necessitating protective adjunct treatments. Acacia saligna (A. saligna) flowers, used in traditional medicine, have potential health benefits. Aim: To investigate the protective role of A. saligna flower extract against QET-induced sexual toxicity, and to elucidate the possible underlying mechanisms through metabolomic and physiological studies. Methods: A. saligna extract was subjected to metabolite profiling via High-Resolution Ultra-Performance Liquid Chromatography-Mass Spectrometry (UPLC-ESI-qTOF-MS). Forty-eight adult male albino rats were assigned into six groups for 30 days. The intracavernosal pressure (ICP), semen, biochemical, hormonal, histological, genetic and Western blot (WB) analyses were determined. Results: A. saligna extract is rich in phenolic compounds, flavonoids, tannins, and unsaturated fatty acids. QET significantly decreased ICP and negatively affected semen parameters. A. saligna mitigated decreased sperm motility and ameliorated overexpressed proinflammatory genes in QET-55 group. A. saligna ameliorated the reduction of the antioxidant biomarkers, testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH), concurrent with downregulation of the nuclear factor kappa B (NF-κB) protein. A. saligna counteracted the disrupted testicular and prostatic structures revealed by histological examination. Conclusion: The extract from A. saligna, which contains a high concentration of antioxidants and anti-inflammatory chemicals, effectively mitigates sexual toxicity caused by QET. This study provided the first known explanation of the hypothesized processes behind the protective properties of A. saligna through biological, biochemical, and histological parameters. The results emphasize the potential of A. saligna as a safeguarding agent against drug-induced sexual toxicity.

5.
Res Sq ; 2024 May 30.
Article in English | MEDLINE | ID: mdl-38854131

ABSTRACT

In the rodent, hippocampal neurogenesis plays critical roles in learning and memory1,2, is tightly regulated by inhibitory neurons3-7 and contributes to memory dysfunction in Alzheimer's disease (AD) mouse models8-10. In contrast, the mechanisms regulating neurogenesis in the adult human hippocampus, the dynamic shifts in the transcriptomic and epigenomic profiles in aging and AD and putative niche interactions within the cellular environment, remain largely unknown. Using single nuclei multi-omics of postmortem human hippocampi we map the molecular mechanisms of hippocampal neurogenesis across aging, cognitive decline, and AD neuropathology. Transcriptomic and epigenetic profiling of neural stem cells (NSCs), neuroblasts and immature neurons suggests that the earliest shift in the characteristics of neurogenesis takes place in NSCs in aging. Cognitive impairment was associated with changes in neuroblast profile. In AD, there was a widespread cessation of the transcription machinery in immature neurons, with robust downregulation of genes regulating ribosomal and mitochondrial function. Further, there was substantial loss of parvalbumin+ inhibitory neurons in the hippocampus in aging. The number of the rest of inhibitory neurons were reduced as a function of age and diagnosis. Notably, a similar system-level effect was observed between immature and inhibitory neurons in the transition from aging to AD, manifested by common molecular pathways that were ultimately lost in AD. The numbers of neuroblasts, immature and GABAergic neurons inversely correlated with extent of neuropathology. Using CellChat and NeuronChat, we inferred the ligands and receptors by which neurogenic cells communicate with their cellular environment. Loss of synaptic adhesion molecules and neurotransmitters, either sent or received by neurogenic cells, was observed in AD. Together, this study delineates the molecular mechanisms and dynamics of human neurogenesis, functional association with inhibitory neurons and a mechanism of hippocampal hyperexcitability in AD.

6.
J Med Case Rep ; 18(1): 286, 2024 Jun 22.
Article in English | MEDLINE | ID: mdl-38907357

ABSTRACT

BACKGROUND: Due to rarity of duodenal GISTs, clinicians have few information about its clinical features, diagnosis, management and prognosis. CASE REPORT: We report a case of promptly diagnosed duodenal GIST in a 61-year-old Egyptian man presented shocked with severe attack of hematemesis and melena. Upper gastroduodenal endoscopy was done and revealed a large ulcerating bleeding mass at first part of duodenum 4 hemo-clips were applied with good hemostasis. An exploratory laparotomy and distal gastrectomy, duodenectomy and gastrojejunostomy were performed. The morphology of the mass combined with immunohistochemistry was consistent with duodenal gastrointestinal stromal tumours (GISTs) of high risk type. The patient is on amatinib one tablet daily and he was well with no evidence of tumor recurrence. CONCLUSION: despite being rare, emergency presentation with sudden severe, life-threatening hemorrhagic shock duodenal GISTs might be a cause of potentially lethal massive combined upper and lower gastrointestinal bleeding which is the key feature of this rare and challenging tumor.


Subject(s)
Duodenal Neoplasms , Gastrointestinal Hemorrhage , Gastrointestinal Stromal Tumors , Shock, Hemorrhagic , Humans , Gastrointestinal Stromal Tumors/complications , Gastrointestinal Stromal Tumors/pathology , Gastrointestinal Stromal Tumors/diagnosis , Gastrointestinal Stromal Tumors/surgery , Male , Middle Aged , Gastrointestinal Hemorrhage/etiology , Duodenal Neoplasms/complications , Duodenal Neoplasms/surgery , Duodenal Neoplasms/pathology , Shock, Hemorrhagic/etiology , Melena/etiology , Hematemesis/etiology , Gastrectomy
7.
Clin Oral Investig ; 28(5): 254, 2024 Apr 17.
Article in English | MEDLINE | ID: mdl-38630328

ABSTRACT

OBJECTIVE: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families. MATERIALS AND METHODS: The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used. RESULTS: WES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be de novo in the patient of Family 2. CONCLUSIONS AND CLINICAL RELEVANCE: Our study extends the number of DSPP pathogenic variants and strengthens the fact that DSPP is the most common DI causative gene irrespective of patients' ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited DSPP variants taking into consideration the variable religion, culture and laws in our society.


Subject(s)
Dentinogenesis Imperfecta , Osteochondrodysplasias , Humans , Dentinogenesis Imperfecta/genetics , Genetic Counseling , Ethnicity , Radiography, Panoramic
9.
Heliyon ; 10(1): e23688, 2024 Jan 15.
Article in English | MEDLINE | ID: mdl-38192829

ABSTRACT

Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the LTBP3 gene, was previously considered as a subtype of brachyolmia. The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan. In our Egyptian patients, we also observed hearing impairment. Exome sequencing was performed to determine the genetic causes of the diverse clinical conditions in the patients. Exome sequencing identified a novel homozygous splice acceptor site variant (LTBP3:c.3629-1G > T; p. ?) responsible for DASS phenotypes and a known homozygous missense variant (CABP2: c.590T > C; p.Ile197Thr) causing hearing impairment in the Egyptian patients. In addition, two previously reported homozygous frameshift variants (LTBP3:c.132delG; p.Pro45Argfs*25) and (LTBP3:c.2216delG; p.Gly739Alafs*7) were identified in Pakistani patients. This study emphasizes the vital role of LTBP3 in the axial skeleton and tooth morphogenesis and expands the mutational spectrum of LTBP3. We are reporting LTBP3 variants in seven patients of three families, majorly causing brachyolmia with dental and cardiac anomalies. Skeletal assessment documented short webbed neck, broad chest, evidences of mild long bones involvement, short distal phalanges, pes planus and osteopenic bone texture as additional associated findings expanding the clinical phenotype of DASS. The current study reveals that the hearing impairment phenotype in Egyptian patients of family A has a separate transmission mechanism independent of LTBP3.

10.
Eur J Case Rep Intern Med ; 11(1): 004192, 2024.
Article in English | MEDLINE | ID: mdl-38223284

ABSTRACT

This report presents the clinical details and management of a 58-year-old Caucasian male with pericardial effusion and cardiac tamponade following outpatient inferior vena cava (IVC) filter removal. The patient was unresponsive and experienced cardiac arrest minutes after the procedure, requiring cardiopulmonary resuscitation. After return of spontaneous circulation he displayed somnolence, confusion and chest discomfort. Investigations revealed a large pericardial effusion, and an echocardiography confirmed cardiac tamponade. Prompt intervention involved pericardiocentesis, resulting in haemodynamic stabilisation and reduction in effusion size. The patient responded favourably with treatment. Differential diagnoses were considered and treatment options were discussed, highlighting the importance of timely recognition and appropriate intervention in managing pericardial effusion and cardiac tamponade. This report adds to the limited literature on pericardial effusion and cardiac tamponade following a scheduled outpatient IVC filter removal, emphasising the unique clinical presentation and successful management of this rare phenomenon. LEARNING POINTS: Understanding the link between pericardial effusion and cardiac tamponade following IVC filter removal.Recognising and differentiating cardiac tamponade from other emergencies using clinical and diagnostic tools.Learning the immediate management of cardiac tamponade, emphasising the role of pericardiocentesis.

11.
Cardiovasc Revasc Med ; 61: 52-61, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37872022

ABSTRACT

BACKGROUND: Bivalirudin is an alternative accepted therapy to unfractionated heparin for patients with myocardial infarction (MI) undergoing percutaneous coronary intervention (PCI). We aimed in this meta-analysis to compare bivalirudin versus unfractionated heparin in patients with MI undergoing PCI. METHODS: We have screened PubMed/MEDLINE, Cochrane Library, and ClinicalTrials.gov (inception through January 8th, 2023) for randomized controlled trials (RCTs) evaluating bivalirudin versus unfractionated heparin in patients with MI undergoing PCI. The DerSimonian and Laird method was used for estimation of tau2 to calculate the risk ratio (RR) and 95 % confidence interval (CI). RESULTS: Ten RCTs with a total of 40,069 participants were included in our analysis. Bivalirudin as compared with unfractionated heparin was associated with significant decrease in major bleeding (RR 0.64 [0.52 to 0.79]; p < 0.01; I2 = 69 %) and cardiovascular mortality (RR 0.79 [0.67 to 0.92]; p < 0.01; I2 = 0 %). There was no significant difference between bivalirudin and unfractionated heparin groups in terms of major adverse cardiovascular events (RR 1.02 [0.91 to 1.14]; p = 0.73; I2 = 52 %), all-cause mortality (RR 0.89 [0.77 to 1.04]; p = 0.15; I2 = 23 %), MI (RR 1.02 [0.87 to 1.19]; p = 0.80; I2 = 36 %), stent thrombosis (RR 1.12 [0.52 to 2.40]; p = 0.77; I2 = 82 %), or stroke (RR 0.97 [0.73 to 1.29]; p = 0.85; I2 = 0 %). CONCLUSION: Our meta-analysis suggests that bivalirudin compared with unfractionated heparin in patients with MI undergoing PCI was associated with lower rates of major bleeding and cardiovascular mortality without a significant difference in major adverse cardiovascular events, all-cause mortality, MI, stroke, or stent thrombosis.


Subject(s)
Myocardial Infarction , Percutaneous Coronary Intervention , Stroke , Thrombosis , Humans , Heparin/adverse effects , Antithrombins/adverse effects , Treatment Outcome , Randomized Controlled Trials as Topic , Hirudins/adverse effects , Myocardial Infarction/diagnosis , Myocardial Infarction/therapy , Myocardial Infarction/complications , Peptide Fragments/adverse effects , Hemorrhage/chemically induced , Percutaneous Coronary Intervention/adverse effects , Percutaneous Coronary Intervention/methods , Stroke/etiology , Thrombosis/etiology , Recombinant Proteins/adverse effects , Anticoagulants/adverse effects
12.
Am J Cardiol ; 211: 316-325, 2024 Jan 15.
Article in English | MEDLINE | ID: mdl-37923154

ABSTRACT

The incidence of takotsubo stress cardiomyopathy (TSCM) in males is low compared with females. Gender-based differences in clinical outcomes of TSCM are not well characterized. The aim of this meta-analysis was to analyze whether gender-based differences are observed in TSCM clinical outcomes. A comprehensive literature search of PubMed, Embase, Cochrane Library database, and Web of Science was performed from inception to June 20, 2022, for studies comparing the clinical outcomes between male and female patients with TSCM. The primary outcome of interest was in-hospital all-cause mortality and cardiogenic shock. The secondary outcomes were cardiovascular mortality, receipt of mechanical ventilation, intra-aortic balloon pump, occurrence of ventricular arrhythmia, and left ventricular thrombus. A random-effects model was used to calculate the risk ratios (RR) and confidence intervals (CI). Heterogenicity was assessed using the Higgins I2 index. Twelve observational studies involving 51,213 patients (4,869 males and 46,344 females) were included in the meta-analysis. Male gender was associated with statistically significant higher in-hospital all-cause mortality compared with females in patients with TSCM (RR 2.17, 95% CI 1.77 to 2.67, p <0.001). The rate of cardiogenic shock was significantly higher in males with TSCM compared with females (RR 1.66, 95% CI 1.29 to 2.12, p <0.001). Our meta-analysis showed a difference in the clinical outcomes of TSCM between men and women. Male gender was associated with a two-fold greater in-hospital all-cause mortality risk compared with female gender. The higher mortality risk associated with male gender deserves further study, particularly whether it represents later recognition of the condition and disparities in treatments.


Subject(s)
Shock, Cardiogenic , Takotsubo Cardiomyopathy , Female , Humans , Male , Incidence , Sex Characteristics , Sex Factors , Shock, Cardiogenic/etiology
13.
Cardiovasc Revasc Med ; 61: 8-15, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37951758

ABSTRACT

INTRODUCTION AND AIM: The optimal composition and duration of antiplatelet therapy after complex percutaneous coronary intervention (PCI) remains unclear. We conducted a meta-analysis to compare 1-3 months of dual antiplatelet therapy (DAPT) followed by monotherapy vs. 12 months of DAPT. METHOD: MEDLINE/PubMed, EMBASE, and Cochrane Central Register of Controlled Trials were queried for studies comparing 1-3 months of DAPT followed by monotherapy vs. 12 months of DAPT in the outcomes of complex PCI from inception through January 2023. Outcomes of interest included major bleeding, all-cause mortality, cardiovascular mortality, myocardial infarction (MI), stent thrombosis, target vessel revascularization, and stroke. RESULTS: Compared to 12 months, 1-3 months of dual antiplatelet therapy had a weak association with less major bleeding (OR 0.67; 95 % CI, 0.44-1.00; p = 0.05; I2 = 28 %). There were no significant differences between the shorter and longer antiplatelet therapy in terms of all-cause mortality (OR 0.83; 95 % CI, 0.59-1.16; p = 0.21; I2 = 17 %), cardiovascular mortality (OR 0.87; 95 % CI, 0.53-0.42; p = 0.50; I2 = 0), MI (OR 0.97; 95 % CI, 0.69-1.35; p = 0.82; I2 = 32 %), stent thrombosis (OR 1.17, 95 % CI, 0.77-1.76; p = 0.38; I2 = 0 %), target vessel revascularization (OR 1.05, 95 % CI, 0.58-1.89; p = 0.82; I2 = 64 %), or stroke (OR 1.10, 95 % CI, 0.55-2.17; p = 0.37; I2 = 7 %);. CONCLUSION: Among patients undergoing complex PCI, DAPT for 1-3 months may be associated with less major bleeding but similar rates of cardiovascular events (death, MI, stroke, stent thrombosis, and revascularization) compared to DAPT for 12 months.


Subject(s)
Drug-Eluting Stents , Myocardial Infarction , Percutaneous Coronary Intervention , Stroke , Thrombosis , Humans , Platelet Aggregation Inhibitors/adverse effects , Percutaneous Coronary Intervention/adverse effects , Drug-Eluting Stents/adverse effects , Hemorrhage/chemically induced , Thrombosis/etiology , Stroke/etiology , Drug Therapy, Combination , Treatment Outcome
14.
Am J Cardiovasc Drugs ; 24(1): 71-81, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37995040

ABSTRACT

INTRODUCTION: Cangrelor is a potent intravenous non-thienopyridine P2Y12 inhibitor. We conducted a network meta-analysis to study the efficacy and safety of cangrelor as compared with the oral P2Y12 inhibition, clopidogrel, or placebo in acute coronary syndromes. METHODS: This meta-analysis followed the Cochrane collaboration guidelines and the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) protocols. Outcomes of interest included all-cause mortality, myocardial infarction, stent thrombosis, target vessel revascularization, major bleeding, minor bleeding, and the need for blood transfusion. RESULTS: The analysis was comprised of 6 studies including 26,444 patients treated with cangrelor, clopidogrel, or placebo. There were no statistically significant differences in the incidence of all-cause mortality, myocardial infarction, stent thrombosis, target vessel revascularization, or major bleeding. Cangrelor was associated with a higher risk of minor bleeding than clopidogrel or placebo, with no difference in requiring blood transfusion. CONCLUSION: Cangrelor has comparable outcomes to clopidogrel in patients with acute coronary syndromes and can be used as a reliable alternative in this population.


Subject(s)
Acute Coronary Syndrome , Myocardial Infarction , Percutaneous Coronary Intervention , Thrombosis , Humans , Clopidogrel/therapeutic use , Acute Coronary Syndrome/therapy , Platelet Aggregation Inhibitors/adverse effects , Network Meta-Analysis , Purinergic P2Y Receptor Antagonists/adverse effects , Adenosine Monophosphate/adverse effects , Myocardial Infarction/drug therapy , Hemorrhage/chemically induced , Hemorrhage/epidemiology , Hemorrhage/drug therapy , Percutaneous Coronary Intervention/adverse effects , Percutaneous Coronary Intervention/methods , Treatment Outcome , Thrombosis/drug therapy
15.
Arch Oral Biol ; 158: 105869, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38104461

ABSTRACT

OBJECTIVES: describing the clinical features of twelve Egyptian patients with Papillon-Lefever syndrome (PLS). Five novel mutations in the cathepsin C (CTSC) gene are introduced and the phenotype of the syndrome is expanded by the identification of new clinical features. DESIGN: the clinical, oro-dental data of twelve Egyptian patients from seven unrelated families are described. Sequence analysis of the CTSC gene was performed to identify the causative mutaions. RESULTS: Typical PLS features were presented in all patints but with variable severity. One patient showed atypical dental features including dental structural defect, minimal periodontitis, severe gingivitis, and delayed closure of root apices. Another patient presented with arachnodactyly, dystrophic nails, and buphthalmos in the right eye secondary to uncontrolled congenital glaucoma. Mutational analysis of CTSC gene revealed seven distinct homozygous variants including five novel ones: c.285_286delGT (p.Leu96GlufsTer2), c .302 G>C (p.Trp101Ser), c.622_628delCACAGTC (p.H208Efs*11), c.1331delinsAAAAA (p.G444Efs*4) and c .1343 G>A (p.Cys448Tyr). The previously reported missense variant c .757 G>A (p.Ala253Thr) was found in one patient. This variant is very close to the splice region and by functional studies, we proved that it results in exon skipping and early protein truncation (p.R214Sfs*46). CONCLUSION: We report five novel CTSC variants and describe rare and unusual associated clinical and dental findings such as dental structural defects, delayed closure of root apices, and congenital glaucoma. Therefore, our results expand both the phenotypic and mutational spectrum of PLS.


Subject(s)
Glaucoma , Papillon-Lefevre Disease , Humans , Papillon-Lefevre Disease/genetics , Cathepsin C/chemistry , Cathepsin C/genetics , Egypt , Mutation, Missense , Syndrome
16.
Eur J Case Rep Intern Med ; 10(12): 004025, 2023.
Article in English | MEDLINE | ID: mdl-38077716

ABSTRACT

This case report presents the management of a 53-year-old female with a complex psychiatric history who ingested multiple medications, resulting in severe cardiovascular compromise and subsequent respiratory failure. The patient's ingestion included clonidine, fluoxetine, gabapentin, quetiapine and bupropion. Initial treatment involved supportive measures, including fluid resuscitation, bicarbonate infusion and correction of electrolyte imbalances. Despite these interventions, the patient remained haemodynamically unstable, requiring multiple vasopressors. Lipid emulsion therapy was initiated and led to a remarkable improvement in the patient's cardiovascular status. However, she developed acute respiratory distress syndrome (ARDS) and required prolonged mechanical ventilation. Steroid therapy was initiated to manage the ARDS, and the patient was successfully extubated on day 6. The case highlights the potential effectiveness of lipid emulsion therapy in managing bupropion toxicity, but emphasises the need for further research to establish clear guidelines on dosing, timing and safety protocols. Adverse effects associated with lipid emulsion therapy must be carefully considered. Individualised decision-making and patient-centred care is crucial in optimising outcomes in cases of bupropion toxicity. LEARNING POINTS: Recognise the cardiotoxic effects of bupropion toxicity: be vigilant in identifying cardiotoxic effects such as prolonged QTc, hypotension and arrhythmias in cases of bupropion toxicity.Consideration of intravenous lipid emulsion therapy for toxic injections of lipophilic drugs such as bupropion: in severe lipophilic drug ingestions, such as bupropion, consider using intravenous lipid emulsion therapy as a potential treatment option.Individualised decision-making and monitoring is necessary when using lipid emulsion therapy: tailor treatment based on the patient's condition and closely monitor for responses and potential adverse effects when using lipid emulsion therapy.

17.
Sci Rep ; 13(1): 19469, 2023 11 09.
Article in English | MEDLINE | ID: mdl-37945578

ABSTRACT

Polyphenolics have been predicted to effectively develop antimicrobial agents for the food industry as food additives and promote human health. This study aims to synthesize pomegranate peel extract (PPE) with silver nanoparticles (AgNPs) against eight foodborne pathogens. Multispectroscopic analysis of UV-vis spectroscopy, Zeta potential, Fourier transform infrared (FTIR) and scanning electron microscopy (SEM) analysis were used to characterize the interaction between PPE and AgNPs. Eight foodborne pathogenic strains (six bacterial and two fungal strains) Bacillus subtilis ATCC 6633, Enterococcus faecalis ATCC 29212, Escherichia coli ATCC 8379, Klebsiella pneumoniae ATCC 00607, Salmonella typhi DSM 17058, Shigella sonnei DSM 5570, Aspergillus flavus ATCC 9643, and Rhizopus oryzae ATCC 96382 were used to test the inhibitory potential of PPW-AgNPs. The reaction colour of PPE-AgNPs from yellow to brown indicated that the nanoparticles were successfully formed. The UV absorption of PPE-AgNPs was detected at 440 nm of 0.9 SPR. SEM image of PPE-AgNPs exhibited spherical shapes with a zeta potential of - 20.1 mV. PPE-AgNPs showed high antimicrobial activity against all tested strains. The highest inhibition activity of PPE-AgNPs was recorded for the B. subtilis strain followed by K. pneumonia, while the highest resistance was noticed for R. oryzae. The components of pomegranate peel were analyzed using gas chromatography-mass spectrometry (GC-MS). The major constituents of pomegranate peel is phenol (51.1%), followed by Isocitronellol (19.41%) and 1-Propanol, 2-(2-hydroxypropyl)- (16.05%). PPE is key in the simple, eco-friendly green synthesis of extracellular stable AgNPs as an alternative source for harmful chemical disinfectants.


Subject(s)
Anti-Infective Agents , Metal Nanoparticles , Pomegranate , Humans , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/chemistry , Silver/pharmacology , Silver/chemistry , Metal Nanoparticles/chemistry , Microbial Sensitivity Tests , Anti-Infective Agents/pharmacology , Anti-Infective Agents/chemistry , Spectroscopy, Fourier Transform Infrared , Escherichia coli , Plant Extracts/pharmacology , Plant Extracts/chemistry
18.
J Neurosurg Case Lessons ; 5(7)2023 Feb 13.
Article in English | MEDLINE | ID: mdl-38015020

ABSTRACT

BACKGROUND: Spinal dural arteriovenous fistula (SDAVF) is a rare disorder with an unknown etiology. Often, the clinical presentation and imaging findings are misleading, causing this condition to be mistaken for other entities, such as demyelinating or degenerative spinal lesions. OBSERVATIONS: The authors report a challenging case of SDAVF in which the patient's symptoms were initially thought to be attributable to a herniated disc based on his imaging studies at another institution. He sought the authors for a second opinion, which yielded a confirmed diagnosis of SDAVF. Due to his rapidly progressive neurological manifestations, he underwent a surgical division of the fistula using intraoperative video angiography via indocyanine green injections. His symptoms progressively improved over a 3-month period. He regained full sphincter control by 4 months, which gave him a better recovery than seen in other patients with SDAVFs, who do not generally fully regain sphincter control. LESSONS: SDAVF is a critical spinal vascular pathology that should not be overlooked in the differential diagnosis of any patient presenting with signs of progressive myelopathy. Despite its associated vague initial clinical symptoms, SDAVF typically, but not always, demonstrates a characteristic imaging appearance on magnetic resonance (MR) imaging studies; therefore, MR angiography is still required for definitive diagnosis. Surgical treatment for SDAVF is almost always definitive and curative.

19.
Am J Cardiovasc Dis ; 13(5): 291-299, 2023.
Article in English | MEDLINE | ID: mdl-38026111

ABSTRACT

INTRODUCTION: The first-generation Watchman 2.5 (W 2.5)TM presented several limitations, such as challenges in implantation within complex left atrial appendage (LAA) anatomies, higher incidence of peri-device leak, device recapture, and device-related thrombus (DRT). The newer generation Watchman FLX (W-FLX)TM was introduced with a modified design aiming to overcome these limitations. The purpose of this meta-analysis is to conduct a comparative assessment of the safety and efficacy of the W-FLX and 2.5 devices in clinical practice. METHOD: The meta-analysis was conducted according to the preferred reporting items for systematic review and meta-analysis protocols (PRISMA). Studies were located through a search strategy utilizing PubMed, Cochrane, Google scholar and MEDLINE from inception to March 2023, with a primary objective to compare the safety and efficacy of the W-FLX and W 2.5 devices. After applying the selection criteria, five studies were included in this analysis. RESULTS: The analysis included five studies comprising 54,727 patients. The W-FLX is associated with an increase in procedural success (OR 7.49 [95% CI 1.98-28.26, P = 0.02; I2 = 0%]), and a significant reduction in mortality (OR 0.52 [95% CI 0.51-0.54, P<0.01; I2 = 0%], major bleeding 0.57 [95% CI 0.51-0.64, P<0.01; I2 = 0%]), device embolism (OR 0.35 [95% CI 0.18-0.70, P = 0.02; I2 = 0%]), and pericardial effusion (OR 0.33 [95% CI 0.26-0.41, P<0.01; I2 = 0%]). The rates of DRT and stroke were similar between the two groups. CONCLUSION: Compared to the W 2.5, the W-FLX was associated with a higher procedural success rate and significantly reduced adverse outcomes including mortality, major bleeding, device embolization, and pericardial effusion.

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Article in English | MEDLINE | ID: mdl-37868251

ABSTRACT

Defining the etiology of syncope can be occasionally challenging. We present a case with no history of coronary artery disease (CAD) who presented exclusively with exertional syncope, and was found to have mildly reduced left ventricular systolic dysfunction on echocardiogram and severe multi-vessel CAD with chronic total occlusion (CTO) of the right coronary artery (RCA). Syncope as the initial presentation of advanced CAD in the absence of classic ischemic symptoms is rather an uncommon presentation in clinical practice.

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