Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.

Charcot-Marie-Tooth (CMT) disease is mainly a disease of peripheral nervous system and patients typically present with features of demyelinating neuropathy or axonal neuropathy or both. Rarely patients present with features of central nervous system involvement. Parkinsonism, aphemia and familial epilepsy syndrome have previously come up as case reports in association with CMT type 4 J.We hereby describe a family with 3 siblings affected with CMT4J with homozygous FIG4 mutation who presented with global developmental delay, epilepsy and spastic quadriparesis.

Permanent standard time is the optimal choice for health and safety: an American Academy of Sleep Medicine position statement.

The period of the year from spring to fall, when clocks in most parts of the United States are set one hour ahead of standard time, is called daylight saving time, and its beginning and ending dates and times are set by federal law. The human biological clock is regulated by the timing of light and darkness, which then dictates sleep and wake rhythms. In daily life, the timing of exposure to light is generally linked to the social clock. When the solar clock is misaligned with the social clock, desynchronization occurs between the internal circadian rhythm and the social clock. The yearly change between standard time and daylight saving time introduces this misalignment, which has been associated with risks to physical and mental health and safety, as well as risks to public health. In 2020, the American Academy of Sleep Medicine (AASM) published a position statement advocating for the elimination of seasonal time changes, suggesting that evidence best supports the adoption of year-round standard time. This updated statement cites new evidence and support for permanent standard time. It is the position of the AASM that the United States should eliminate seasonal time changes in favor of permanent standard time, which aligns best with human circadian biology. Evidence supports the distinct benefits of standard time for health and safety, while also underscoring the potential harms that result from seasonal time changes to and from daylight saving time. CITATION: Rishi MA, Cheng JY, Strang AR, et al. Permanent standard time is the optimal choice for health and safety: an American Academy of Sleep Medicine position statement. J Clin Sleep Med. 2024;20(1):121-125.

Use of improvised vaccum assisted suction drainage for cases of deep sternal wound infection.

AIM: To devise a simple, cheap and effective improvised method of treating deep sternal wound infections (DSWI) by negative pressure obviating high cost of patented systems. METHOD: Records of ten post CABG patients operated via median sternotomy approach over a two and half year period and treated for DSWI were analysed. Sterile foam with drain was placed in the wound, which was covered with Ioban (Steridrape), the drain being connected to a suction unit maintaining 100mmHg pressure (<$12 cost). RESULTS: Ten (10) patients of DSWI were managed with this therapy. Mean age was 60.4 years. Pseudomonas found in 1 (10%), Acinetobacter and Pseudomonas in 1 (10%) with Escherichia coli in 1 (10%). Five (50%) patients had diabetes mellitus. Mean hospitalisation period was 43 days. Seven (70%) patients underwent secondary suturing. Two (22%) patients had relapse, which was managed with dressings and secondary intention suturing. One patient who underwent a muscle flap cover had major recurrence with multiple sinuses. Excellent wound healing in 9 (90%) patients with no (0%) 90-day mortality. Improvised components can be safely employed to provide effective negative pressure therapy for DSWI with excellent results.

Improved sustainability of solar panels by improving stability of amorphous silicon solar cells.

As the world grapples with global warming, it becomes imperative to carefully examine the sustainable energy technology choices. Solar is the fastest growing clean energy source but today it contributes little to the electricity generated, so future installations will dwarf the existing installed base. There is a factor of 2-4 decrease in the energy payback time from the dominant crystalline silicon technology to thin film technologies. Essential criteria like use of abundant materials and simple but mature production technology point to amorphous silicon (a-Si) technology. Here we delve into the primary issue impeding adoption of a-Si technology-the Staebler Wronski Effect (SWE), that generates metastable, light induced defects which reduce the performance of a-Si based solar cells. We demonstrate that a simple change leads to a significant reduction in SWE power loss and define a clear path to elimination of SWE, allowing the technology to be widely adopted.

Spectrum of anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated diseases: an Indian perspective.

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) is involved in the pathogenesis of central nervous system (CNS) demyelination disorders. We aimed to explore the spectrum of MOG-Ab-associated diseases in eastern India. A single-center, prospective observational study was done over a period of 2 years in a tertiary care hospital of eastern India. Patients with CNS demyelination disorders who tested positive for MOG-Ab using live cell-based assay were included in the study; while, those with age less than 1 year, documented preexisting CNS structural lesions, developmental delays or diagnosed multiple sclerosis were excluded. Demographic profile, clinical spectrum, disease course, radiological features as well as response to treatment were analyzed among included patients. Twenty MOG-Ab-positive patients were included (M:F 1:1.85). The median age of symptom onset was 10.5 years. The median follow-up of patients was 13 months. Acute disseminated encephalomyelitis (ADEM) was the commonest presentation at first attack (55%), followed by optic neuritis (ON) (45%). Patients with ADEM had a significantly lower age at first attack (p = 0.025). Monophasic and relapsing disease courses were seen in 45% and 55% patients, respectively. While all patients with only ADEM had a monophasic course, 77.8% with ON had a relapsing course. Among patients who presented with isolated transverse myelitis, 75% had a monophasic course and all had disease confined to the spinal cord. Good response to corticosteroids was seen in majority of participants. Second-line drugs were needed in 55% patients, rituximab being the commonest second-line agent used. 35% patients had significant disability (EDSS > 4) at last follow-up. MOG-Ab-associated diseases have diverse clinical phenotypes characterized by age-dependent pattern-specific courses.

Ocular adverse effects of Topiramate: Two case reports.

Topiramate, an antiepileptic drug is reported to cause various ocular adverse effects like acute onset myopia, glaucoma. Visual field defect is an uncommon, serious treatment emergent adverse effect. We are reporting two cases of suspected topiramate induced visual field defects.Both the cases were on topiramate for more than 6 months as add-on therapy at daily doses ranging from 100-150mg. The presenting complaints were insidious onset visual disturbances. Diagnosis was based of temporal association with drug intake, clinical examination and investigations. Automated perimetry revealed bilateral superior quadrantic and arcuate field defects in the two cases respectively. Marked improvement with drug dechallenge was noted which was also corroborated by perimetry. Using Naranjo's ADR Probability Scale, both cases revealed a "probable" association with topiramate. This report intends to improve awareness amongst clinicians to facilitate early diagnosis and intervention.

Carbon dioxide insufflation and neurocognitive outcome of open heart surgery.

AIM: Neurocognitive dysfunction continues to be the bane of open heart surgery despite vast improvements in surgical, anesthetic, and postoperative management. This observational cohort study was carried out to evaluate the efficacy of intraoperative CO2 insufflation by the field flooding technique in reducing postoperative neurocognitive dysfunction. METHODS: Three hundred randomly selected patients undergoing open heart surgery were observed: 150 (group A) were exposed to CO2 insufflation, and the other 150 (group B) were not exposed to CO2. Anesthetic, cardiopulmonary bypass, and myocardial protection techniques were standardized and similar in both groups. Neurocognitive function tests were performed preoperatively, 1 week postoperatively, and after 1 month. RESULTS: The analysis revealed that neurocognitive dysfunction occurred in 8 of 150 patients in group A (incidence p1 = 0.053) and 27 of 150 in group B (incidence p2 = 0.18). The relative risk of neurocognitive dysfunction was 0.30 (p = 0.001, 95% confidence interval 0.14-0.63), implying that CO2 insufflation is protective against neurocognitive dysfunction. The risk difference was 0.13 (p2-p1); this implies that 13% of patients can be prevented from developing neurocognitive dysfunction if exposed to CO2. CONCLUSION: This study confirms the known advantage of the relatively underutilized practice of CO2 insufflation. We recommend that CO2 insufflation be performed in all open heart surgery cases to bring down the incidence of neurocognitive dysfunction. This technique is simple to use without any major paraphernalia or additional cost.

Exploding head syndrome: a case report.

INTRODUCTION: Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. CASE PRESENTATION: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described 'as if there are explosions in my head'. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. CONCLUSION: EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

Pulmonary artery aneurysm with dissection and hemopericardium.

Pulmonary artery aneurysm presenting with dissection and hemopericardium is extremely rare, and we came across one such case in our center. The patient was a 22-year-old man who presented with dyspnoea, tachypnoea, and pallor. On evaluation, he was found to have a leaking pulmonary artery aneurysm with dissection and hemopericardium, and a patent ductus arteriosus. He underwent pericardiocentesis followed by successful closure of the ductus, aneurysmectomy, and reconstruction of the pulmonary artery.

Spectrum of peripheral neuropathy in eastern India.

Peripheral neuropathies constitute an important group of disorders in neurological practice. Very few systematic studies on peripheral neuropathies are available from India. Hence we conducted a prospective study in two large hospitals from Kolkata, the biggest city of eastern India in order to find out the spectrum of peripheral neuropathy. This prospective study was carried out from June 1998 to January 2003 on admitted patients with symptoms and signs of peripheral neuropathy. Two hundred and twenty-five patients were evaluated (one hundred and twenty-five from an industrial hospital and one hundred from an academic tertiary care institution at Kolkata). Result showed that most of the cases of peripheral neuropathy belonged to fourth decade with men dominance. Common varieties of neuropathy were Guillain-Barré syndrome, diabetes mellitus, hereditary motor sensory neuropathy, chronic inflammatory demyelinating neuropathy, drugs and toxin related. Unusual varieties were Isaacs's syndrome and X-linked hereditary motor-sensory neuropathy. One case of neuropathy due to Plasmodium vivax has received intravenous immunoglobulin therapy. The type of peripheral neuropathy in hospital-based patients in eastern India was similar to other parts of country excepting some sporadic types due to infective or genetic causes and a large number of cases of undetermined aetiology exist despite detailed investigations.