Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India

Objectives: West syndrome (WS) is a triad of epileptic spasms, developmental delay/regression, and hypsarrhythmia. SCN related epileptic encephalopathy is a rare epilepsy syndrome characterized by an early-onset, severe, and epileptic encephalopathy. The causes of WS are multiple and diverse ranging from genetic to structural, metabolic, and unknown causes. The objectives of the study were to report SCN related epileptic encephalopathies with epileptic spasms. Materials and Methods: This is retrospective chart review of children presenting with epileptic spasms secondary to SCN gene variants from January 2015 to March 2020 in a tertiary care referral center. Results: Out of 15 children, ten were boys. The mean age of presentation was 5 months. Thirteen children had preceded seizures before epileptic spasms in the 1st year of life, two children presented initially with epileptic spasms. No neuro-deficits were noted in all the children. In all the cases electroencephalogram was suggestive of hypsarrhythmia. Routine testing, neuroimaging, and metabolic tests were normal in all the cases. Various pathogenic variants seen in next-generation sequencing were SCN1A in 11, SCN1B and SCN2A in two children each. Three children responded for vigabatrin and five children responded for steroids but all of them had relapse and were refractory to other antiepileptic drugs. Conclusion: SCN related epileptic encephalopathy should be considered in the differential diagnosis of epileptic spasms. These infants present earlier compare to classical Dravet syndrome children.

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Trend of Hospital Admission and Outcome Study of Patients Admitted in a Neurology Unit at a Tertiary Care Neuroscience Hospital in Bangladesh

Journal of National Institute of Neurosciences Bangladesh ◽

10.3329/jninb.v4i2.38917 ◽

2018 ◽

Vol 4 (2) ◽

pp. 69-74

Author(s):

Md Tauhidul Islam Chowdhury ◽

Mohammad Shah Jahirul Hoque Choudhury ◽

KM Ahasan Ahmed ◽

Mohammad Sadekur Rahman Sarkar ◽

Md Abdullah Yusuf ◽

...

Keyword(s):

Neurological Disorders ◽

Neurological Diseases ◽

Tertiary Care ◽

Length Of Hospital Stay ◽

Retrospective Chart Review ◽

Total Death ◽

Neurological Patients ◽

Study Population ◽

The Mean ◽

Day By Day

Background: Neurological disorders is becoming a growing concern both for developed and developing countries. Magnitude of the problem is increasing day by day. Among all neurological disorders, stroke is the leading cause of morbidity and mortality globally.Objectives: The purpose of the study was to see the trend of admission of patients with neurological diseases and to study the outcome of patients at referral neurology hospital in Bangladesh.Methodology: This retrospective chart review was conducted in the blue unit of the Department of Neurology at National Institute of Neurosciences and Hospital, Dhaka, Bangladesh from 1st January to 31st December 2016 for a period of one (01) year. All the admitted patients with both sexes were selected as study population. The outcome was observed among the study population.Result: A total number of 1044 patients were admitted during the study period. Majority of the patients were in the age group of the 41 to 50 years which was 417(39.9%) cases. Both male and female were in highest number in the month of May which was 63 and 48 cases respectively. The total death of the study population was 146(14.0%) cases. The mean length of hospital stay was 8.4±2.31 days.Conclusion: Middle aged male is the main bulk of the neurological patients, admitted in a referral neurology hospital in Bangladesh. Highest admission and mortality was observed in stroke patients.Journal of National Institute of Neurosciences Bangladesh, 2018;4(2): 69-74

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P108: Characterizing use of next-day ultrasound from the emergency department

CJEM ◽

10.1017/cem.2019.299 ◽

2019 ◽

Vol 21 (S1) ◽

pp. S103

Author(s):

C. Roberts ◽

T. Oyedokun ◽

B. Cload ◽

L. Witt

Keyword(s):

Emergency Department ◽

Patient Care ◽

Tertiary Care ◽

Retrospective Chart Review ◽

Improve Patient Care ◽

Additional Stress ◽

Start Date ◽

The Mean ◽

Tertiary Care Hospitals ◽

Improve Patient

Introduction: Formal ultrasound imaging, with use of ultrasound technicians and radiologists, provides a valuable diagnostic component to patient care in the Emergency Department (ED). Outside of regular weekday hours, ordering formal ultrasounds can produce logistical difficulties. EDs have developed protocols for next-day ultrasounds, where the patient returns the following day for imaging and reassessment by an ED physician. This creates additional stress on ED resources – personnel, bed space, finances – that are already strained. There is a dearth of literature regarding the use of next-day ultrasounds or guidelines to direct efficient use. This study sought to accumulate data on the use of ED next-day ultrasounds and patient oriented clinical outcomes. Methods: This study was a retrospective chart review of 150 patients, 75 from each of two different tertiary care hospitals in Saskatoon, Saskatchewan. After a predetermined start date, convenience samples were collected of all patients who had undergone a next-day ultrasound ordered from the ED until the quota was satisfied. Patients were identified by an electronic medical record search for specific triage note phrases indicating use of next-day ultrasounds. Different demographic, clinical, and administrative parameters were collected and analyzed. Results: Of the 150 patients, the mean age was 35.9 years and 75.3% were female. Median length of stay for the first visit was 4.1 hours, and 2.2 hours for the return visit. Most common ultrasound scans performed were abdomen and pelvis/gyne (34.7%), complete abdomen (30.0%), duplex extremity venous (10.0%). Most common indications on the ultrasound requisition were nonspecific abdominal pain (18.7%), vaginal bleeding with or without pregnancy (17.3%), and hepatobiliary pathology (15.3%). Ultrasounds results reported a relevant finding 56% of the time, and 34% were completely normal. After the next-day ultrasound 5.3% of patients had a CT scan, 10.7% had specialist consultation, 8.2% were admitted, and 7.3% underwent surgery. Conclusion: Information was gathered to close gaps in knowledge about the use of next-day ultrasounds from the ED. A large proportion of patients are discharged home without further interventions. Additional research and the development of next-day ultrasound guidelines or outpatient pathways may improve patient care and ED resource utilization.

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Pediatric Trauma-Induced Testicular Torsion: A Surgical Emergency

Urologia Internationalis ◽

10.1159/000511747 ◽

2020 ◽

pp. 1-4

Author(s):

Haijun Zhong ◽

Yunli Bi

Keyword(s):

Testicular Torsion ◽

Tertiary Care ◽

Pediatric Trauma ◽

Delayed Diagnosis ◽

Retrospective Chart Review ◽

Duration Of Symptoms ◽

Testicular Trauma ◽

Genital Trauma ◽

Tertiary Care Institution ◽

The Mean

Objective: To evaluate the features of testicular torsion (TT) resulting from minor groin trauma and to raise the awareness of trauma-induced testicular torsion (TITT). Methods: This is a retrospective chart review of patients presenting with TT resulting from minor genital trauma that was performed from January 2010 to December 2018 at a single tertiary care institution. The demographic, clinical, and perioperative characteristics, as well as data on follow-up and complications, were analyzed. Results: Of the 155 patients treated for TT, 15 were included in this study. The average age of the patients was 10.3 years (range: 3.2–13.3 years). All patients experienced a direct scrotal trauma and subsequently presented with an ipsilateral scrotal or testicular pain secondary to the twisted testicle. Six patients were misdiagnosed as having scrotal inflammation or hematoma, and all were initially treated at local hospitals. The mean duration of symptoms before hospitalization was 138 h (range: 5–504 h). The mean degree of torsion was 390° (range: 180–720°). The testicular salvation rate, at 33%, was poor. No serious postoperative complications or recurrences of TT was observed. Conclusions: TITT is a rare entity and still has delayed diagnosis. This may subsequently lead to a low testicular salvation rate. Emergency surgeons, especially in local hospitals, should be aware of the possibility of TT following testicular trauma in pediatric patients. Improving the parents’ awareness regarding TT is also important.

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Multisite Study to Examine the Amount of Inpatient Physician Continuity Experienced by Hospitalized Patients

Journal of Graduate Medical Education ◽

10.4300/jgme-d-14-00648.1 ◽

2015 ◽

Vol 7 (4) ◽

pp. 624-629 ◽

Cited By ~ 3

Author(s):

Kathlyn E. Fletcher ◽

Siddhartha Singh ◽

Jeff Whittle ◽

Vishal Ratkalkar ◽

Alexis M. Visotcky ◽

...

Keyword(s):

Continuity Of Care ◽

Medical Center ◽

Care Center ◽

Tertiary Care ◽

General Medicine ◽

Retrospective Chart Review ◽

Hospitalized Patients ◽

Inpatient Medicine ◽

The Mean ◽

Handoff Of Care

ABSTRACT Background Continuity for inpatient medicine has been widely discussed, but methods for measuring it have been lacking. Objective To measure the continuity of care experienced by hospitalized patients and to identify predictors of continuity. Methods This was a multisite prospective cohort study and retrospective chart review that took place at 3 hospitals: an academic tertiary care center, a Veterans Affairs medical center, and a community teaching hospital. Subjects were general medicine patients and internal medicine residents. We measured continuity of care using 3 metrics: (1) the percentage of hospital time covered by the primary intern; (2) the amount of time between admission and the first handoff of care; and (3) admission-discharge continuity. We conducted univariate analyses to identify patient and hospital factors that may be associated with each type of continuity of care. Results Our sample included 869 patients with a mean age of 62.6 years (SD = 17.2) and 34% female patients. The mean percentage of hospital time covered by the primary intern was 39.2% (SD = 16.3%). The mean time between admission and the first handoff of care was 13.3 hours (SD = 7.1). Forty percent of patients experienced admission-discharge continuity. In univariate and multivariable modeling, the site was significantly associated with each type of continuity. Conclusions The amount of continuity varied greatly and was influenced by the site and other factors. No site maximized every aspect of continuity. Programs and institutions should decide which aspects of continuity are most important locally and design schedules accordingly.

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PURA-Related Developmental and Epileptic Encephalopathy

Neurology Genetics ◽

10.1212/nxg.0000000000000613 ◽

2021 ◽

Vol 7 (6) ◽

pp. e613

Author(s):

Katrine M. Johannesen ◽

Elena Gardella ◽

Cathrine E. Gjerulfsen ◽

Allan Bayat ◽

Rob P.W. Rouhl ◽

...

Keyword(s):

Protein A ◽

Epileptic Encephalopathy ◽

Epilepsy Syndrome ◽

Seizure Freedom ◽

Clinical Genetic ◽

Feeding Difficulties ◽

Pathogenic Variants ◽

Generalized Seizures ◽

Element Binding Protein ◽

Drug Resistant Epilepsy

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.

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Ohtahara syndrome progressing to West syndrome

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20211692 ◽

2021 ◽

Vol 8 (5) ◽

pp. 941

Author(s):

Tapan Patel ◽

Shivani Patel

Keyword(s):

Mental Retardation ◽

Epileptic Encephalopathy ◽

Infantile Spasms ◽

West Syndrome ◽

Epilepsy Syndrome ◽

Ohtahara Syndrome ◽

Severe Epilepsy

West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and mental retardation. It is sometimes due to the progression of a rare and fatal condition called early infantile epileptic encephalopathy (Ohtahara syndrome). Here we describe the case of a 3 year old male, who is a known case of West syndrome, presenting with recurrent breakthrough convulsions.

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Hospitalization due to Adverse Drug Reactions and Drug Interactions before and after HAART

Canadian Journal of Infectious Diseases ◽

10.1155/2000/123046 ◽

2000 ◽

Vol 11 (4) ◽

pp. 193-201 ◽

Cited By ~ 3

Author(s):

Michelle M Foisy ◽

Kevin Gough ◽

Corinna M Quan ◽

Kevin Harris ◽

Dominique Ibanez ◽

...

Keyword(s):

Adverse Drug Reactions ◽

Highly Active Antiretroviral Therapy ◽

Phase 1 ◽

Tertiary Care ◽

Retrospective Chart Review ◽

Partial Recovery ◽

Phase 2 ◽

Drug Reactions ◽

Tertiary Care Centre ◽

The Mean

OBJECTIVE: To characterize and compare the rates of adverse drug reactions (ADRs) and interactions on admission in two, one-year periods: pre-highly active antiretroviral therapy (HAART) (phase 1) and post-HAART (phase 2).DESIGN: Retrospective chart review.SETTING:University-affiliated tertiary care centre.POPULATION STUDIED: HIV-positive patients admitted to hospital.MAIN RESULTS: In phase 1, 436 of 517 admissions, and, in phase 2, 323 of 350 admissions were analyzed. Over 92% of patients were male, with a mean age of 38 years. Significant differences (P<0.05) in the mean length of stay (12.08 versus 10.02 days), the CD4 counts (99.25 versus 129.45) and the number of concurrent diseases (4.20 versus 3.63) were found between phase 1 and 2, respectively. The mean number of medications taken (5.52 versus 5.94) and the rates of hospitalization with ADRs (20.4% versus 21.4%) or interactions (2.5% versus 2.16%) were similar between the two phases. Antiretrovirals were more common in ADR admissions post-HAART (21.3% versus 36.2%), while antiparasitics, psychotherapeutics and antineoplastics were more common pre-HAART. Other classes of drugs involved in both phases were sulphonamides, narcotics, ganciclovir, foscarnet, antimycobacterials and antifungals. ADR causality was possible or probable in more than 80% of cases. Over 60% of ADRs were grades 3 to 4, and about 85% were either the main or contributing reason for admission. About 65% of patients had at least partial recovery at the time of discharge. In phases 1 and 2, 8.9% and 2.9% of admissions,respectively, with ADRs were fatal.CONCLUSIONS: Although hospitalizations with ADRs and interactions were similar in both phases, HAART therapy has had a significant impact on the incidence and nature of ADRs at St Michael?s Hospital, Wellesley Central Site, Toronto, Ontario.

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Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

Frontiers in Genetics ◽

10.3389/fgene.2021.607965 ◽

2021 ◽

Vol 12 ◽

Author(s):

Pan Gong ◽

Jiao Xue ◽

Xianru Jiao ◽

Yuehua Zhang ◽

Zhixian Yang

Keyword(s):

Cohort Study ◽

Status Epilepticus ◽

Genetic Disorders ◽

Epileptic Encephalopathy ◽

Related Factors ◽

Pathogenic Variants ◽

Age Related ◽

Ohtahara Syndrome ◽

Related Feature ◽

The Mean

BackgroundRecently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.MethodsWe performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.ResultsPathogenic or likely pathogenic variants were identified in 17/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5), GRIN2A (n = 3), SLC9A6 (n = 1), HIVEP2 (n = 1), and RARS2 (n = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.ConclusionMonogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.

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Powered Intracapsular Tonsillectomy in the Management of Recurrent Tonsillitis

Otolaryngology ◽

10.1016/j.otohns.2007.03.045 ◽

2007 ◽

Vol 137 (2) ◽

pp. 338-340 ◽

Cited By ~ 16

Author(s):

Richard Schmidt ◽

Amanda Herzog ◽

Steven Cook ◽

Robert O'Reilly ◽

Ellen Deutsch ◽

...

Keyword(s):

Chart Review ◽

Statistical Significance ◽

Tertiary Care ◽

Retrospective Chart Review ◽

Streptococcal Pharyngitis ◽

Inclusion Criteria ◽

Infection Rates ◽

Recurrent Tonsillitis ◽

The Mean ◽

Intracapsular Tonsillectomy

OBJECTIVE: To compare intracapsular tonsillectomy (IT) and traditional tonsillectomy (TT) in treating recurrent adenotonsillitis or streptococcal pharyngitis. DESIGN: Retrospective chart review. SETTING: Tertiary care pediatric referral center. RESULTS: Of 166 patients who met all inclusion criteria, 117 received TT and 49 received IT. Seventeen TT patients and 8 IT patients were treated at least once postoperatively for streptococcal pharyngitis or tonsillitis. The mean number of infections after surgery in each group did not reach statistical significance ( P = 0.295). CONCLUSION: There was no difference between the IT and TT groups in postoperative infection rates.

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Defining Success of Parathyroidectomy in Hyperparathyroidism

Otolaryngology ◽

10.1016/j.otohns.2008.05.118 ◽

2008 ◽

Vol 139 (2_suppl) ◽

pp. P36-P36 ◽

Cited By ~ 1

Author(s):

Yalon Dolev ◽

Martin J Black ◽

Michael P Hier ◽

Michael Tamilia ◽

Richard J Payne

Keyword(s):

Primary Hyperparathyroidism ◽

Serum Calcium ◽

Chart Review ◽

Care Center ◽

Tertiary Care ◽

Retrospective Chart Review ◽

Tertiary Care Center ◽

The Mean ◽

Normal Calcium

Objective To clearly define what constitutes successful parathyroidectomy in patients with primary hyperparathyroidism and to review our institution's results. Methods A retrospective chart review was conducted for consecutive patients who underwent parathyroidectomy at a university-affiliated tertiary care center between January 1998 and February 2006. Intraoperative pre- and post-excision PTH levels were recorded. PTH and calcium levels were recorded at 3 – 6 month intervals in the first 2 years and then yearly. Results 84 patients were analyzed. 50 (60%) had normal calcium and normal PTH levels following surgery, 28 (33%) had normal calcium and elevated PTH following surgery, and 6 (7%) had both elevated calcium and PTH. The mean follow-up time was 2.23 years, with a range of 0.25 to 5 years. Conclusions Surgery was successful, as indicated by normocalcemia, in 78 patients (93%). Of these 78 patients, 28 (33%) developed persistent PTH elevation without developing hypercalcemia. Other studies have studied this subgroup of patients with normalized post-operative calcium and consistently elevated PTH levels and noted that these new set points persist. Consequently, successful parathyroidectomy should be defined by serum calcium and not PTH levels.

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