The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.Introduction End-stage renal disease (ESRD) is a condition that has seen a large increase in prevalence in recent decades. learn more Paralleling this increase in prevalence is the increasing number of patients requiring vascular access for hemodialysis. Arteriovenous fistulas (AVFs) and arteriovenous grafts (AVGs) are considered the procedures of choice for hemodialysis access. However, due to the suboptimal venous anatomy ( less then 2 mm diameter, sclerotic vascular walls) and chronic medical conditions (diabetes mellitus) seen in many ESRD patients, successful AVF creation and maturation is not always possible using standard procedures. In this study, we performed primary balloon angioplasty (PBA) at the time of AVF creation with subsequent balloon angioplasty maturation (BAM) procedures in a group of patients with a large proportion of diabetes and suboptimal venous anatomy. The purpose of this study was to compare the assisted patency and survival rates in patients with suboptimal veins used to create AVFs to patito fistulas and may contribute to reduced complication risk and improved overall survival.Background The risk of adrenal insufficiency (AI) in using single-dose etomidate for intubation among patients with sepsis remains controversial. Our aim was to assess the prevalence of AI and characterize the risk factors in patients who received etomidate for rapid sequence intubation (RSI). Methods This is a retrospective study of prospectively-acquired data evaluating surgical intensive care unit (SICU) patients who developed respiratory failure undergoing RSI. Results Of the 44 adult SICU patients who developed respiratory failure, 34 patients received etomidate. The average age for the total cohort, for the patients that received etomidate and for those who did not, was 70.91 ± 14.92, 72.82 ± 13.61 years and 64.40 ± 15.93, respectively. Twenty-four patients of the total cohort (54.55%) developed AI; 26 had septic shock (59.09%), and 16 patients had AI and septic shock (36.36%). There was no statistical significance between the incidence of AI in patients who received etomidate (47%) and those who did not (80%). However, in the subset of patients who received etomidate for RSI, there was a non-significant trend toward increased incidence of AI in those who were septic compared to those who were not (p = 0.06). Conclusion A single dose of etomidate used for RSI in SICU patients is not associated with the development of AI or mortality. However, a trend was shown, although not statistically significant, towards the development of AI in septic patients. High-quality and adequately powered randomized control trials (RCTs) are warranted.

Episiotomy is a common procedure in vaginal deliveries. It was thought that episiotomy reduces the risk of severe perineal injuries, but now in various studies it has been observed that it is associated with increased perineal pain, sexual problems, and incontinence in the postpartum period.

This study was carried out to assess pain score on first postnatal day in women with episiotomy during breastfeeding and daily activities.

The consecutive patients who underwent normal vaginal delivery with episiotomy from November 1, 2020 to December 1,2020 in the Department of Obstetrics and Gynecology at Safdarjung Hospital were evaluated. The patients with vulval edema; vulval hematoma; instrumental delivery; and cervical, vaginal, and perineal tear were excluded from the study. The episiotomy pain during routine activitiesand breastfeeding was assessed at first postnatal day by Visual Analogue Scale (VAS) pain score. The analysis of variance (ANOVA) was used to compare the VAS score in different positions for bstfeeding and resting supine are least painful positions. The Western-style toilets are more comfortable than Indian-style toilets.Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a highly infectious viral pathogen with high morbidity and mortality rate. The infection affects multiple organ systems leading to systemic organ failure. There is an increased incidence of acute kidney injury (AKI) in patients who become critically ill. In the critical care setting, the incidence of AKI has been variable amongst different studies. Patients with acute kidney injury who progress to renal replacement therapy are associated with worse outcomes. We describe a case of a 42-year-old male who presented with hypoxemic respiratory failure secondary to SARS-CoV-2 associated pneumonia. The patient was initially managed with the nasal cannula and then required high flow nasal cannula with worsening hypoxemic respiratory failure, requiring invasive mechanical ventilation. On top of worsening respiratory status, the patient developed new onset renal failure requiring hemodialysis.The aim of the current study was to identify patterns of child maltreatment experienced prior to age 18 and examine the relationship between those patterns and substance use and mental health disorders among emerging adults. Data were from the National Epidemiologic Survey on Alcohol and Related Conditions-III. The analytic sample consisted of 5,194 adults between 18 to 25 years old. Latent class analysis revealed a 3-class model Rare Maltreatment (59%); Occasional Maltreatment, Rare Sexual Abuse (37%); and Frequent Maltreatment, Some Sexual Abuse (4%). Risk for substance use disorders and poor mental health was higher for the two classes who experienced maltreatment, however those with Frequent Maltreatment had higher risk for poor mental health, but not substance use disorders compared to those with Occasional Maltreatment. Patterns of child maltreatment are important predictors of substance use and mental health disorders in emerging adulthood, but different patterns may necessitate specific intervention efforts.