Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this biological module, mutations in genes that ...encode components of the cilium and its anchoring structure, the basal body, are the major contributors to both disease causality and modification. However, despite rapid advances in this field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounced phenotypic variability of this group of disorders remain poorly understood. Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele. Consistent with the recently described role of CSPP1 in ciliogenesis, we show that mutant fibroblasts from one affected individual have severely impaired ciliogenesis with concomitant defects in sonic hedgehog (SHH) signaling. Our results expand the list of centrosomal proteins implicated in human ciliopathies.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
•Case report a pregnant woman with acute deterioration of seizure control despite increased ASM doses.•Rapid care was facilitated by advanced nurse practitioner care pathways, epilepsy surgical ...programme and epilepsy obstetric services in place.•Positive maternal and foetal outcome following frontal lobe lesionectomy in a pregnant woman.
We describe the management of a 39-year-old woman with intractable focal epilepsy whose condition deteriorated during pregnancy and who required emergency neurosurgery. A literature search did not identify any previous reports of epilepsy surgery in pregnancy. To our knowledge, this is the first time surgery was planned and executed in rapid order with a successful outcome, without obstetrical or surgical complications and seizure freedom achieved. The value of rapid communication between established women’s health advanced nurse practitioner clinics, the multidisciplinary Epilepsy Surgery Group and specialist Obstetrical Epilepsy service is highlighted. A care cycle for pregnant women with refractory epilepsy is proposed.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Gan Siew Hua 1 and Mohammad Amjad Kamal 2 and Marcelo M. S. Lima 3 and Mohamed Ibrahim Khalil 1, 4 and Visweswara Rao Pasupuleti 5 and Gjumrakch Aliev 6 1, Human Genome Centre, School of Medical ...Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia 2, King Fahd Medical Research Center, King Abdulaziz University, P.O. Box 80216, Jeddah 21589, Saudi Arabia 3, Laboratorio de Neurofisiologia, Departamento de Fisiologia, Universidade Federal do Parana (UFPR), 81531-980 Curitiba, Brazil 4, Department of Biochemistry and Molecular Biology, Jahangirnagar University, Savar, Dhaka 1342, Bangladesh 5, Faculty of Agro Based Industry, Universiti Malaysia Kelantan, Jeli Campus, Locked Bag No. 100, 17600 Jeli, Kelantan, Malaysia 6, School of Health Science and Healthcare Administration, University of Atlanta, E. Johns Crossing, Suite 175, Johns Creek, GA 30097, USA Received 8 October 2014; Accepted 8 October 2014; 19 March 2015 This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The paper by N. Giribabu et al. focused on Vitis vinifera (Linn.) which belongs to Vitaceae family. Besides having antidiabetic activity, V. vinifera also has a wide range of pharmacological activities such as inhibition of platelet aggregation and low density lipoprotein oxidation, antioxidant, antimicrobial, and anticancer activities.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK, VSZLJ
To evaluate clinical efficacy of combined sulphur hexafluoride (SF6) gas tamponade and laser photocoagulation for optic disc pit maculopathy (ODPM).
Eleven eyes of nine patients with optic disc pit ...maculopathy were treated with intravitreal injection of 0.6 ml 100% sulphur hexafluoride (SF6) combined with laser photocoagulation treatment. Patients were followed up for a mean of 28.54 months (range of 14-57 months) after treatment. The anatomical success was shown by optical coherence tomography (OCT) and the functional outcome was judged by best corrected visual acuity.
Treatment with SF6 gas tamponade followed by laser photocoagulation in OPDM patients resulted in resolution of subretinal fluid (SRF) in 82% of eyes after single injection. Repeated injection was needed in two eyes to achieve resolution of SRF. Visual acuity improved significantly from a mean of 0.83 ± 0.14 logMAR preoperatively to a mean of 0.26 ± 0.11 logMAR postoperatively. Visual acuity stayed stable throughout the follow-up period.
SF6 gas tamponade combined with laser photocoagulation represents simple, effective, minimally invasive treatment option for ODPM without vitreomacular traction. Repeated injection was required in some patients.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Abstract Objective The objective was to assess the diagnostic accuracy of serum and urinary placental growth factor (sPlGF and uPlGF, respectively), urate, lactate dehydrogenase (LDH), and ...proteinuria for diagnosing and differentiating between women with preeclampsia and women with a normal healthy pregnancy, gestational hypertension, and gestational proteinuria. Study design Urine and blood samples were taken from pregnant women diagnosed with late-onset severe preeclampsia (30 patients), mild preeclampsia (30 patients), gestational hypertension without meeting the criteria for preeclampsia (30 patients), gestational proteinuria without meeting the criteria for preeclampsia (30 patients), and healthy pregnant control women (30 patients). A receiver operating characteristic (ROC) curves analysis was performed to evaluate the diagnostic accuracy and to select the optimal cutoff points for different markers. Results sPlGF is the best test for differentiating women with severe preeclampsia from women in all of the other groups ( p = 0.001). However, there was no significant difference between sPlGF and proteinuria in the 24-h urine collection ( p = 0.329) in this differentiation. uPlGF can be used to differentiate women with severe preeclampsia from women in all of the other groups. However, proteinuria in the 24-h urine collection is better than uPlGF for this differentiation ( p = 0.013). Conclusion sPlGF and uPlGF can be used to diagnose women with severe preeclampsia and should be considered at least as important as proteinuria in the diagnosis of preeclampsia. A large study that considers the cost-effectiveness of adding these markers to the diagnosis of preeclampsia should be conducted before our recommendation is applied.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
•Hypoglycaemic events can resemble focal seizures semiologically.•Confirming the diagnosis by video EEG is important in drug resistant epilepsy.•Insulinomas can lead to a misdiagnosis of epilepsy.
To ...review the literature, for cases of hypoglycaemia misdiagnosed as epilepsy, including our interesting case of a patient with Type 1 Diabetes Mellitus, diagnosed with focal epilepsy.
A literature search was completed. 20 of 473 studies, with a total of 22 cases found using specified search terms were relevant to this review. The papers identified and reviewed were those that dealt with hypoglycaemia misdiagnosed as epilepsy. The majority are isolated case reports given the rarity of this entity.
An underlying insulinoma is the most common cause for hypoglycaemic episodes to be misdiagnosed as epilepsy. Early morning seizures were prominent in 9 of the 22 cases.
Although rare, hypoglycaemia is an important differential diagnosis for drug-resistant epilepsy and early morning events may be an indication. We report the first case of recurrent hypoglycaemia from exogenous insulin, misdiagnosed as focal epilepsy with an available video EEG. The unusual presentation appeared clinically indistinct from recurrent focal seizures.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Abstract Background Patient–ventilator asynchrony (PVA) is a condition that commonly affects patients who are mechanically ventilated. PVA happens when the patient's own breathing effort and the ...ventilator preset settings are out of sync. Ventilator waveform monitoring is viewed as a difficult undertaking, even for experienced practitioners, despite being a non‐invasive and reliable tool for diagnosing PVA. Aim To assess the knowledge levels and attitudes of critical care nurses (CCNs) regarding the use of ventilator waveform monitoring to detect PVA. Study design A cross‐sectional online survey was conducted in three intensive care units (ICUs) in Alexandria, Egypt. The questionnaire consisted of four parts to evaluate CCNs’ level of knowledge and attitude regarding ventilator waveform monitoring and assess their ability to detect PVA. Results Of the 137 CCNs approached, 101 CCNs completed the survey, resulting in a 73.7% response rate. Most nurses (88.1%) demonstrated poor knowledge levels and negative attitudes (93.1%) towards using waveform monitoring to detect PVA. A significant relationship was found between nurses' knowledge of ventilator waveform monitoring and their participation in previous training programmes on mechanical ventilation (MV; p = .031). Additionally, nurses' attitudes towards ventilator waveform monitoring were significantly associated with their level of education ( p = .002) and attendance in previous courses on waveform analysis ( p = .020). Conclusions A majority of CCNs have poor knowledge and negative attitudes regarding ventilator waveform monitoring. Previous training in MV and attendance courses on ventilator waveform analysis showed a significant correlation between nurses' level of knowledge and attitudes regarding ventilator waveform monitoring. Relevance to Clinical Practice Assessment of CCNs’ knowledge and attitudes regarding ventilator waveform monitoring for detecting patient–ventilator asynchrony (PVA) informs the development of future educational programmes, ultimately aiding in the delivery of prompt and high‐quality care.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Praise be to God, Lord of the worlds, and prayers and peace be upon the one who was sent as a mercy to the worlds, and upon his family and companions described as charitable, and those who followed ...their righteous path.As for after. The Muslim community today faces great challenges and dangerous phenomena that often lead to the loss of its cohesion and the dispersal of its children and their loss on several levels, including the level of faith, psychological, intellectual and scientific, including those related to values ??and morals..., especially as the world is witnessing successive changes, carrying ideas in multiple directions, Its owners are working to publish it in light of the digital transformation that depends on the advanced media from the Internet and satellite channels, which are combined by the so-called (globalization) term, especially since the Islamic community is at the forefront of what is meant by globalization, and in order to look at the effects of globalization on societies and find solutions I wanted to make my point I write this research tagged (the role of the Islamic faith in the face of social and media globalization in light of digital transformation).
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