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Asian Journal of Transfusion Science 2019Rh discrepancies produced by partial and weak D phenotypes are a problem during routine testing. Some blood units with weak and partial D expression may be missed by...
INTRODUCTION
Rh discrepancies produced by partial and weak D phenotypes are a problem during routine testing. Some blood units with weak and partial D expression may be missed by serology. Overcoming the limitations of serology can be achieved by molecular typing. Our objective was to evaluate currently used serologic methods with the molecular analysis in solving discrepant results of weak and partial D (Rh) in South Egypt.
PATIENTS AND METHODS
Fifty blood donor and patient samples with undetermined D phenotype were subjected to serology to define their phenotype using identification (ID)-Card "ID-partial RhD typing set" using six monoclonal anti-D panels, followed by molecular typing using polymerase chain reaction sequence-specific primer kit.
RESULTS
Molecular typing confirmed most of the serology results; two samples previously resolved as partial D Type 3 and DFR by serological methods were clarified by molecular techniques - one sample as weak Type 4 and the other sample as weak Type 3. Among the weak D alleles found in our study, Type 4 was the most common, with a frequency of 20%, followed by Type 3 (14%), Type 1 (8%), Type 2 (6%), and finally, Type 5 with a frequency of 3%. The most common types of partial D were partial D Type D5 (14%) and Type D3 (10%).
CONCLUSION
Our study identified D variants (weak D and partial D categories) of the antigen D and determined the frequency and composition of partial D and weak D alleles in our population. Molecular typing also confirmed most of the results obtained from serological methods.
PubMed: 31896917
DOI: 10.4103/ajts.AJTS_162_18 -
Annals of the Royal College of Surgeons... Jul 2022Tumours in a solitary kidney pose challenges in management. Metastatic tumours and those in difficult locations complicate treatment further. The advent of immunotherapy...
INTRODUCTION
Tumours in a solitary kidney pose challenges in management. Metastatic tumours and those in difficult locations complicate treatment further. The advent of immunotherapy has shed new light on the management of such tumours. We present a series of three cases treated with nephron-sparing surgery following neoadjuvant immunotherapy and compare the outcomes with patients who underwent robotic partial nephrectomy in a solitary kidney.
METHODS
We present the outcomes of three patients with solitary kidney tumours who underwent delayed nephron-sparing surgery following good response to immunotherapy. All patients had solitary kidney following a previous nephrectomy, two of which were nonmetastatic but, due to size/location, not amenable to primary treatment; the third patient had metastatic disease and responded to immunotherapy. Two patients underwent robotic partial nephrectomy and one opted for cryotherapy. We compared the preoperative, intraoperative and postoperative parameters of the two patients who underwent robotic cytoreductive partial with patients who underwent robotic partial nephrectomy in a solitary kidney.
RESULTS
Out of 231 partial nephrectomy patients in our centre, 2 underwent cytoreductive partial nephrectomy and 5 underwent solitary partial nephrectomy. There was no statistically significant difference in the patient demographics in the two groups. Patients in both groups had comparable operative time, warm ischaemia time, blood loss and length of stay. Two of the five patients in the non-cytoreductive robotic partial nephrectomy had Clavien Dindo 1 complications compared with one patient in the robotic cytoreductive partial nephrectomy group. This was not statically significant.
CONCLUSION
Neoadjuvant immunotherapy can play a valuable role in shrinking renal tumours in solitary kidneys to facilitate robotic partial nephrectomies. There were no significant differences in the intra- and postoperative parameters in patients who underwent cytoreductive partial nephrectomy when compared with patients undergoing robotic solitary partial nephrectomy.
Topics: Humans; Kidney Neoplasms; Nephrectomy; Nephrons; Operative Time; Retrospective Studies; Robotic Surgical Procedures; Solitary Kidney; Treatment Outcome
PubMed: 34860125
DOI: 10.1308/rcsann.2021.0251 -
Arquivos de Neuro-psiquiatria Sep 2000To investigate the clinical and genetic characteristics of familial partial epilepsies.
OBJECTIVE
To investigate the clinical and genetic characteristics of familial partial epilepsies.
METHOD
Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed.
RESULTS
Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families.
CONCLUSION
Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment.
Topics: Adolescent; Adult; Atrophy; Brazil; Electroencephalography; Epilepsies, Partial; Epilepsy, Temporal Lobe; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged
PubMed: 11018823
DOI: 10.1590/s0004-282x2000000500011 -
International Journal of Environmental... May 2019The aim of this study was to analyze the relationship between coping and anxiety in caregivers of dependent older adult relatives. A cross-sectional study was carried...
The aim of this study was to analyze the relationship between coping and anxiety in caregivers of dependent older adult relatives. A cross-sectional study was carried out in the province of Jaén (Andalusia, Spain). The convenience sample consisted of 198 family caregivers of dependent older adults. The main measurements were anxiety (Hamilton scale), coping (Brief COPE), subjective burden (Caregiver Strain Index), objective burden and sex of the caregiver. The main analyses were bivariate analysis using the Pearson correlation coefficient, and multivariate analysis using multiple linear regression. An independent regression model was developed for anxiety and each type of coping, adjusting for sex, subjective burden and objective burden. Our results demonstrate that anxiety was negatively associated with planning (partial r = -0.18), acceptance (partial r = -0.22) and humor (partial r = -0.20), and it was positively associated with self-distraction (partial r = 0.19), venting (partial r = 0.22), denial (partial r = 0.27) and self-blame (partial r = 0.25). Planning, acceptance and humor coping strategies may be protective factors of anxiety. Strategies such self-management, relief, denial and self-blame may be risk factors for anxiety.
Topics: Adaptation, Psychological; Aged; Anxiety; Caregivers; Cost of Illness; Cross-Sectional Studies; Female; Humans; Linear Models; Male; Middle Aged; Multivariate Analysis; Risk Factors; Spain
PubMed: 31083624
DOI: 10.3390/ijerph16091651 -
Epilepsia Dec 1998Smiling is sometimes manifested during partial seizures. Its value for localizing the epileptogenic focus is not known. We analyzed smiling as an ictal manifestation...
PURPOSE
Smiling is sometimes manifested during partial seizures. Its value for localizing the epileptogenic focus is not known. We analyzed smiling as an ictal manifestation possibly useful for seizure localization.
METHODS
We reviewed patients referred to the video-EEG monitoring unit who presented a smile as part of their critical symptoms. Ictal smile was defined as an accordant expression accompanied by other characteristic epileptic symptoms and ictal EEG activity.
RESULTS
Five of 86 patients experienced partial seizures with an ictal smile. We observed smiling during parietal (two patients) and temporal lobe (three patients) seizures. The right hemisphere appeared to be involved with greater frequency.
CONCLUSIONS
Ictal smile is an uncommon manifestation of partial seizures involving temporal or parietal lobes, localized mainly on the right hemisphere.
Topics: Adult; Electroencephalography; Epilepsies, Partial; Epilepsy; Epilepsy, Temporal Lobe; Female; Functional Laterality; Humans; Male; Monitoring, Physiologic; Parietal Lobe; Smiling; Videotape Recording
PubMed: 9860074
DOI: 10.1111/j.1528-1157.1998.tb01337.x -
Journal of Neurology, Neurosurgery, and... Apr 1983Postictal values of prolactin, LH and FSH have been recorded in patients with both generalised tonic-clonic and partial seizures. Elevations of prolactin and LH were...
Postictal values of prolactin, LH and FSH have been recorded in patients with both generalised tonic-clonic and partial seizures. Elevations of prolactin and LH were seen immediately and at 20 minutes in males and females with generalised attacks. At sixty minutes values for prolactin had fallen to baseline levels, but LH remained elevated. FSH values were increased in females only, at twenty and sixty minutes. Following partial seizures prolactin was elevated, especially with complex partial seizures, at twenty minutes. These results are discussed in the light of known electrophysiological mechanisms relating to partial seizures, and clinical guidelines for the use of neurohormonal tests in the evaluation of seizures are suggested.
Topics: Consciousness; Electroencephalography; Epilepsies, Partial; Epilepsy; Epilepsy, Temporal Lobe; Female; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Male; Prolactin; Time Factors
PubMed: 6405014
DOI: 10.1136/jnnp.46.4.331 -
Intractable & Rare Diseases Research Feb 2019Trisomy 9 including mosaic and partial trisomy is less frequently seen chromosomal abnormality in live born children. The pure or partial trisomy 9 frequently been...
Trisomy 9 including mosaic and partial trisomy is less frequently seen chromosomal abnormality in live born children. The pure or partial trisomy 9 frequently been reported in prenatal diagnosis and product of conception. However few studies reported partial trisomy 9 in live born children. In addition data on genotype and phenotype correlation of partial trisomy is not well understood except few case reports. Here we report a case of partial trisomy 9 and monosomy 14 with a 46,XY,der(9)t(9;14)(q22.1;q11.2)pat,-14 karyotype in a 5-year old dysmorphic child. The proband was confirmed as trisomic for 9pter->9q22.1 and monosomic for 14pter->q11.2 due to paternal t(9;14)(q22.1;q11.2) balanced translocation using a combination of conventional and molecular cytogenetic (fluorescence in situ hybridization, array-comparative genomic hybridization) techniques. The clinical features similar to pure trisomy 9 is due to duplication of the large region of chromosome 9. However, the present report of partial trisomy 9 and monosomy 14 is a novel case report and showing comparatively longer survival which have not been previously reported in the literature. The parent of the proband was counseled for the future pregnancies.
PubMed: 30881863
DOI: 10.5582/irdr.2019.01000 -
Epilepsia Sep 2009An algorithm is a "step-by-step procedure for solving a problem or accomplishing some end....in a finite number of steps." (Merriam-Webster, 2009). Medical algorithms... (Review)
Review
An algorithm is a "step-by-step procedure for solving a problem or accomplishing some end....in a finite number of steps." (Merriam-Webster, 2009). Medical algorithms are decision trees to help with diagnostic and therapeutic decisions. For the treatment of epilepsy there is no generally accepted treatment algorithm, as individual epilepsy centers follow different diagnostic and therapeutic guidelines. This article presents two algorithms to guide decisions in the treatment of refractory partial epilepsy. The treatment algorithm describes a stepwise diagnostic and therapeutic approach to intractable medial temporal and neocortical epilepsy. The surgical algorithm guides decisions in the surgical treatment of neocortical epilepsy.
Topics: Algorithms; Anticonvulsants; Brain Neoplasms; Decision Trees; Electroencephalography; Epilepsies, Partial; Epilepsy; Fluorodeoxyglucose F18; Humans; Magnetic Resonance Imaging; Neocortex; Positron-Emission Tomography; Tomography, Emission-Computed, Single-Photon; Videotape Recording
PubMed: 19702734
DOI: 10.1111/j.1528-1167.2009.02236.x -
Clinical Neurophysiology : Official... Sep 2019
Topics: Bradycardia; Cerebral Cortex; Defibrillators, Implantable; Electrocorticography; Epilepsies, Partial; Female; Humans; Magnetic Resonance Imaging; Middle Aged
PubMed: 31295722
DOI: 10.1016/j.clinph.2019.06.003 -
Epilepsia May 2009In its first description (1989), Panayiotopoulos syndrome was defined as an idiopathic epilepsy syndrome with an excellent prognosis, characterized by a clinical ictal... (Review)
Review
In its first description (1989), Panayiotopoulos syndrome was defined as an idiopathic epilepsy syndrome with an excellent prognosis, characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. The electroencephalographic and clinical features of this condition were highly suggestive of occipital lobe involvement. Subsequently, the concept of this benign age-related focal epilepsy has been expanded over the years, including a wider and larger spectrum of seizure manifestations far beyond the occipital manifestations, and for which the eponym of Panayiotopoulos syndrome (PS) has been adopted. However, many theoretical and practical points, including diagnostic, genetic, and pathophysiologic issues remain still unresolved for PS.
Topics: Disease Progression; Electroencephalography; Epilepsies, Partial; Humans; Occipital Lobe; Ocular Motility Disorders; Syndrome; Time Factors; Vomiting
PubMed: 19469846
DOI: 10.1111/j.1528-1167.2009.02120.x