Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism.

BACKGROUND AND OBJECTIVES: Biochemical testing of CSF for neurotransmitter metabolites and their cofactors is often used in the diagnostic evaluation of infants with neurologic disorders but requires an invasive, labor-intensive procedure with many potential sources of error. Our aim was to determine the diagnostic yield of CSF testing for biogenic amines (serotonin, norepinephrine, epinephrine, and dopamine) and their cofactors in identifying inborn errors of neurotransmitter metabolism among infants. METHODS: We evaluated all infants aged 1 year or younger who underwent CSF biogenic amine neurotransmitter (CSFNT) testing at Children's Hospital of Philadelphia (CHOP) and Boston Children's Hospital (BCH) between 2008 and 2017 in this cross-sectional study. The primary outcome was the proportion of individuals who received a diagnostic result from CSFNT testing. Secondary assessments included the proportion of infants who obtained a diagnostic result from other types of diagnostic testing. RESULTS: The cohort included 323 individuals (191 from CHOP and 232 from BCH). The median age at presentation was 110 days (range 36-193). The most common presenting features were seizures (71%), hypotonia (47%), and developmental delay (43%). The diagnostic yield of CSFNT testing was zero. When CSF pyridoxal-5-phosphate level was assayed with CSFNT testing, 1 patient had a diagnostic result. An etiologic diagnosis was identified in 163 patients (50%) of the cohort, with genetic testing having the highest yield (120 individuals, 37%). DISCUSSION: Our findings support the case for deimplementation of CSFNT testing as a standard diagnostic test of etiology in infants aged 1 year or younger presenting with neurologic disorders.

Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.

OBJECTIVE: Lead time to treatment (clinical onset of epileptic spasms [ES] to initiation of appropriate treatment) is known to predict outcomes in infantile epileptic spasms syndrome (IESS). Timing the clinical onset of ES is crucial to establish lead time. We investigated how often ES onset could be established to the nearest week. We aimed to (1) ascertain the exact date or estimate the nearest week of ES onset and (2) compare clinical/demographic factors between patients where date of ES onset was determined or estimated to the nearest week and patients whose date of ES onset could not be estimated to the nearest week. Reasons for difficulties in estimating date of ES onset were explored. METHODS: Retrospective chart review of new onset IESS patients (January 2019-May 2022) extracted the date or week of the clinical onset of ES. Predictors of difficulty in date of ES onset estimation to the nearest week were examined by regression analysis. Sources contributing to difficulties determining date of ES onset were assessed after grouping into categories (provider-, caregiver-, disease-related). RESULTS: Among 100 patients, date of ES onset was estimated to the nearest week in 47%. On univariable analysis, age at diagnosis (p = .021), development delay (p = .007), developmental regression/stagnation (p = .021), ES intermixed with other seizures (p = .011), and nonclustered ES at onset (p = .005) were associated with difficulties estimating date of ES onset. On multivariable analysis, failure to establish date of ES onset was related to ES intermixed with other seizures (p = .004) and nonclustered ES at onset (p = .003). Sources contributing to difficulties determining date of ES onset included disease-related factors (ES characteristics, challenges interpreting electroencephalograms) and provider/caregiver-related factors (delayed diagnosis). SIGNIFICANCE: Difficulties with estimation of lead time (due to difficulties timing ES onset) can impact clinical care (prognostication), as even small increments in lead time duration can have adverse developmental consequences.

Delays to care in infantile epileptic spasms syndrome: Racial and ethnic inequities.

OBJECTIVE: Non-Hispanic (NH) Black children are less likely to receive a standard treatment course for infantile epileptic spasms syndrome (IESS) than White/NH children at pediatric tertiary care epilepsy centers in the United States. However, if inequities exist in time to diagnosis is unknown. Diagnostic delays as little as 1 week can be associated with worse developmental outcomes. METHODS: Diagnostic delays were evaluated in a retrospective cohort of 100 children with new onset IESS between January 2019 and May 2022. RESULTS: Children with Black, Indigenous, and People of Color (BIPOC) caregivers were more likely to experience clinically significant delays in referral from first provider to neurologist, when compared to White/NH children, even after controlling for other demographic and clinical variables (odds ratio = 4.98, confidence interval = 1.24-19.94, p = .023). SIGNIFICANCE: Disproportionate diagnostic delays place BIPOC children at risk of adverse developmental and epilepsy outcomes. Further interventional prospective and qualitative studies are needed to address inequities in care.

Hospital readmissions in children with new-onset infantile epileptic spasms syndrome.

OBJECTIVE: To describe inpatient resource use in the 2 years following infantile epileptic spasms syndrome (IESS) diagnosis, examine the association between clinical/demographic variables and incidence of readmission, and identify risk factors/reasons for frequent readmissions. METHODS: Retrospective cohort analysis of readmissions (scheduled/unscheduled) within the first 2 years following IESS diagnosis, details of readmissions (number/time between rehospitalizations, and length of stay), demographic/clinical variables, and reasons for readmissions were collected. Negative binomial regression analysis evaluated associations between incidence of readmissions (both scheduled/unscheduled and unscheduled alone) and demographic/clinical factors. Logistic regression assessed the risk of having recurrent readmissions (≥5 readmissions). RESULTS: Among 93 (60% males) new-onset IESS patients, there were 394 readmissions (56% scheduled and 44% unscheduled) within 2-years following IESS diagnosis. Mean length of stay was 3.5 days (SD: 5.9). Readmissions occurred in 82 patients (88%) and 37 (40%) experienced ≥5 readmissions. On multivariate regression analysis, readmissions were increased with use of multiple first-line treatments for IESS (P = 0.006), technology assistance (P ≤ 0.001), and multispecialty care (P = 0.01); seizure freedom (P = 0.015) and known etiology (P = 0.011) lowered the incidence of readmissions. Examining unscheduled readmissions separately, increased readmissions occurred with public insurance (P = 0.013), technology use (P ≤ 0.0.001), and multispecialty care (P = 0.013); seizure freedom decreased unscheduled readmissions (P = 0.006). Technology assistance (G-tube, NG tube, VP shunt, and tracheostomy use) increased the odds (P = 0.007) for recurrent readmissions. Reasons for readmissions included EEG monitoring (protocol driven for verification of IESS remission/characterization of events/EEG surveillance/presurgical monitoring) (51%), acute medical issues (21%), and seizure exacerbation (15%). Protocol-driven readmissions declined an estimated 52% following protocol modification during the study. SIGNIFICANCE: In the 2 years following IESS diagnosis, there is substantial inpatient resource use with nearly 40% experiencing ≥5 readmissions (mostly epilepsy related). Since readmissions are increased by intrinsic patient characteristics such as medical complexity (technology use and multispecialty care) or epilepsy-related issues, the preventability of readmissions is uncertain, except for protocol-driven ones.

Nonreplantable Total Scalp Avulsion Reconstruction with Acellular Biologic Matrix and Long-Term Outcome.

ABSTRACT: Total scalp avulsion is a significant injury typically occurring as a result of industrial accidents involving high-speed rotary machines. Although ideal, scalp replantation is uncommon secondary to the nature of the injury and lack of viable microvas-cular anastomosis targets. Therefore, these defects are often reconstructed with microvascular free tissue transfer, with or without skin grafting. We present a unique case of a patient with total scalp avulsion achieving complete, stable skin coverage over partially intact periosteum using only spare parts of the amputated scalp as a temporary full-thickness graft and porcine urinary bladder matrix, thus, avoiding significant donor site morbidity or extensive surgery. At 4 years postoperative, the scalp coverage remains stable.

Disruption of targeted muscle reinnervation due to heterotopic ossification in an amputated lower extremity.

A patient in his late 40s presented after 1-year following below knee amputation and targeted muscle reinnervation (TMR) with new prosthesis intolerance and pinpoint pain, suspicious for neuroma. X-ray confirmed fibular heterotopic ossification (HO). Operative revision identified HO encompassing a TMR construct with a large neuroma requiring excision and neuroplasty revision. Now approximately 1-year post procedure, the patient remains active, pain-free and ambulating with a prosthetic. Amputated extremities can be at risk for development of HO. Although described in literature, the pathophysiology and timeline for HO development is not well understood. Preventative measures for HO have been described, yet results remain variable. The gold standard for existing HO remains to be operative excision. Due to the unpredictable nature and debilitating presentation, risk of HO should be incorporated into patient-physician discussions. Additionally, new prosthetic intolerance absent of prior trauma should raise suspicion for possible HO development.

Impact of COVID-19 pandemic on mental health of health-care workers in a tertiary care teaching and dedicated COVID-19 hospital.

AIM: We aimed to assess the consequences of dealing with patients during the COVID-19 pandemic lockdown period on the mental state of health-care workers. MATERIALS AND METHODS: An anonymous online survey was conducted with 353 participants using a self-made questionnaire comparing the prevalence of low mood, apprehension, tension, and coping skills used and the Depression, Anxiety, and Stress Scale-21. The data were analyzed to compare the mental health of male and female doctors. To identify predictors of mental health outcomes, a multivariate logistic regression was carried out. RESULTS: Both men and women were almost equally affected in terms of developing features of low mood, with easy physical and mental exhaustion. While the feeling of being isolated and irritability was slightly higher in females, both sexes were equally affected by the media. It was observed that the prevalence of smoking (tobacco/marijuana, etc.) had increased in both with slightly higher percentage in males as compared to females while there was a considerable increase in caffeine and alcohol consumption in males. The sleeping pattern and appetite were equally affected in both sexes. The sexual drive was also altered in both male and female residents, but the change was considerably more in males. The significant predictors of anxiety were age, depression, mental exhaustion, burden of increased quantity of work, and feeling of having no choice but to work due to obligation. CONCLUSION: Both male and female doctors working during the COVID-19 pandemic developed anxiety and depression. While substance use and altered sexual drive were more in males, exhaustion and stress were more in females.

Association of childhood psychological trauma with eating disorders in undergraduate medical students.

AIM: The aim of the study was to study the association of childhood psychological trauma with eating disorders (EDs) and to assess and compare the relationship with food, concerns about weight gain, and restrictive or compensatory practices in male and female undergraduate medical students. MATERIALS AND METHODS: A cross-sectional, analytical study was performed in a Tertiary Care Medical College and Research Hospital in a suburban area of India. After obtaining ethical clearance, 100 final-year undergraduate students were included in the study with their informed consent. Self-made questionnaire, Childhood Trauma Questionnaire, Stirling ED Scale with Disordered Eating Attitude Scale were used. Spearman's correlation coefficient (Rho) was calculated. RESULTS: There was a significant correlation of history of childhood psychological trauma in the form of emotional abuse, emotional neglect or physical abuse and physical neglect with higher prevalence of disordered eating behaviors and relationship with food, concern about weight gain, and compensatory practices. No significant relationship was found in a history of sexual abuse. CONCLUSION: The importance of a healthy psychosocial upbringing and nurturing by parents to prevent development of psychiatric comorbidities is an important finding in this study.

Pattern of burden on the family of patients with schizophrenia and bipolar disorder: A comparative study.

BACKGROUND: The concept of burden of care came from the realm of behavioral sciences primarily in the context of looking after a psychiatrically ill person. Caregivers of schizophrenia and bipolar affective disorder (BPAD) have to take over the totality of patient care since most of these patients are treated at home. As a result of this, they are exposed to negative consequences of caregiving. AIM: This study aims to assess and compare the pattern of burden among the families having patients with schizophrenia and bipolar disorder. MATERIALS AND METHODS: This cross-sectional, observational study was conducted on the outpatient department level at Ranchi Institute of Neuropsychiatry and Allied Science. This study included 30 patients with schizophrenia and equal number of age- and sex-matched patients with bipolar disorder. The diagnosis was made as per criteria of International Classification of Diseases 10 diagnostic criteria for research. Their caregivers who gave consent for their participation in the study and satisfy the inclusion and exclusion criteria were included in the study by purposive sampling. Tools administered were socio-demographic datasheet and family burden inventory schedule. STATISTICAL ANALYSIS USED: Chi-square test, Fisher's exact test, and Mann-Whitney U test. RESULTS: Total caregiver burden, financial burden, disruption of routine family activities, family leisure, family interaction, and subjective burden felt by caregiver were significantly more in caregivers of schizophrenia patients compared to caregivers of BPAD. There was no significant difference in the two areas of burden, i.e., effect on physical health of the caregivers and effect on mental health of caregivers. CONCLUSION: Caregivers of schizophrenia patients have significantly higher family burden as compared to caregivers of subjects with BPAD.

Neuropsychiatric involvement in systemic lupus erythematosus: A case series.

Patients with systemic lupus erythematous that suffers from one or more of several neuropsychiatric symptoms represent a subcategory termed "neuropsychiatric systemic lupus erythematosus" (NPSLE). Different environmental factors, such as infection, stress, and ischemia, mediated by inflammatory cytokines, may damage the blood-brain barrier, further contributing to neuropsychiatric symptoms. Antiribosomal-P antibodies are specifically related to psychosis in NPSLE. Three patients of systemic lupus erythematosus who developed features of psychosis are presented and the condition is briefly discussed.

Psychogenic nonepileptic seizures: A case series.

Manifestation of abnormal excessive synchronous cortical activity, which is what defines epileptic seizures, is typically absent in seizures with psychological etiology, a heterogeneous set of factors that have been identified. Distinguishing psychogenic nonepileptic seizures (PNES) from epileptic seizures may be difficult at the bedside. We report a case series of PNES which presented with diagnostic dilemma. Diagnostic delay of years with PNES is common. The exact choice of treatment is often difficult and should be based on individual differences in the underlying factors. Outcome can be measured in terms of seizure occurrence (frequency, severity), but other measures might be of greater importance for the patient. Prognosis is varied but studies consistently report that 1/3rd to 1/4th of these cases become chronic.

Differentiation of hepatic encephalopathy from delirium tremens: A case series and review.

Hepatic encephalopathy (HE) is an important and potentially life threatening complication in alcoholic patients with decompensated liver function that develop even as they continue drinking. Delirium tremens, on the other hand, is an acute condition resulting from alcohol abstinence in a person dependent on alcohol, making it a life threatening diagnosis that requires intensive care and successful management of the withdrawal. Often in medical wards, these two conditions are mistaken and so is the management plan confused with each other. Making the right diagnosis early on during the hospital course is extremely important in these critical conditions so as to make an appropriate schedule for treatment and a better outcome for the same. A case series of patients who presented with a diagnostic dilemma is reported. Clinical examinations, diagnostic tools to measure the levels of ammonia and liver function tests and hemogram, West Haven criteria and Child-Pugh grading, and clinical scales of these patients are reported. Increased levels of ammonia were present in all the cases. The subtle similarities in the presentation of the two conditions often make it confusing for the clinician to distinguish between them. Using a simple test of measuring ammonia levels in the blood helps in such situations. The detection of raised levels of ammonia in cases of chronic liver disease helps in not just the diagnosis but also is an important prognostic indicator for development of HE.

Erotomania: A case series.

Erotomania is an unusual psychotic disorder exemplified by an individual's delusions of another person being infatuated with them. The condition is usually, but not exclusively, observed in females who are shy, dependent, and sexually inexperienced. The object of the delusion is usually beyond reach, being of much higher social or financial status, already married or disinterested. We present a case series of three patients suffering from this uncommon disorder.

Psychogenic vomiting: A case series.

Psychogenic vomiting is a syndrome in of recurrent vomiting without any organic pathology. It must be differentiated from cyclical vomiting syndrome, functional vomiting, and chronic idiopathic nausea. It occurs as a result of an emotional or psychic disturbance. This condition is highly disabling, increasingly recognized, and under-researched. In India, the number of patients reporting to the psychiatric outpatient department with eating disorders is comparatively very less. We describe how two patients with diagnostic dilemmas who were treated successfully after psychiatric intervention.

Induced delusional disorder: A case series.

Phenomenon of induced delusional disorder has a relatively long, controversial history of conceptualization. It is a rare entity and goes undiagnosed mostly as only the primary partner is brought to clinical attention. We present a case series of induced delusional disorder with different presentations. For effective management, understanding the dynamics of relationship shared by the partners and addressing the biopsychosocial factors are crucial. Failure to adhere to treatment poses additional challenge in these cases.

Impact of COVID-19 pandemic on healthcare workers.

The COVID-19 pandemic is a healthcare crisis that has led to unprecedented impact on healthcare services. At the heart of the unparalleled crisis, doctors face several challenges in treating patients with COVID-19. The psychological burden and overall wellness of healthcare workers (HCWs) have received heightened awareness, with research continuing to show high rates of burnout, psychological stress, and suicide. Detrimental effects include high rates of infection and death, excessive financial hardships, stress related to known and particularly unknown information, and fear of uncertainty regarding continued impact. Some researchers focused specifically on COVID-19's impact on HCW sleep. Anxiety and stress were significantly increased, leading to negative impacts on both self-efficacy and sleep. Stress is an important factor in drug use. Efforts should be made to explore the factors that are associated with psychological distress, which may lead to symptoms of anxiety, depression, or provoke suicidal ideation, and efforts should be made to control the factors that are modifiable. There needs to be more awareness among doctors and further long-term studies focusing on their mental health as adverse mental health conditions will further affect them as the disease advances.

COVID-19 lockdown - Blessing or disaster?

Despite the dubious results of the nationwide lockdown in India state after state continue to clamp lockdowns indiscriminately and claim that it is a panacea for all their ills. Unverified claims abound and myths are perpetuated without any basis. It is time to take a close look at the hard data and come to logical conclusions regarding the utility of prolonged open-ended lockdowns. Unfortunately, the evidence does not support the use of prolonged lockdowns as a useful strategy to combat the COVID-19 pandemic.

Intracranial space-occupying lesion masked by alcohol dependence syndrome.

A lot of comorbidities exist in patients with dependence on alcohol, psychoactive, or other substances. Many times, their comorbidities go undiagnosed or neglected due to the stigma prevalent with dependence. A 22-year-old person with alcohol dependence who was detected to have a parietal lobe space-occupying lesion which proved to be a tuberculoma is reported.