Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease

Background: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. Methods: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring. Results: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n = 81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p < 0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. Conclusions: This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions

Rare association of Visceral leishmaniasis with Hodgkin's disease: A case report

We present here a case of young male with complaints of fever and swelling in the neck for eight months. History of progressive weakness associated with weight loss was present. Physical examination revealed pallor, multiple enlarged cervical lymph nodes and hepatosplenomegaly. Investigations showed pancytopenia, hyperglobinemia and Leishman-Donovan bodies on bone marrow aspiration. Serological test confirmed diagnosis of visceral leishmaniasis. However, cervical lymph node aspiration and biopsy were suggestive of Mixed cellularity Hodgkin's disease. This made it a very rare case of Leishmaniasis as an opportunistic infection in a patient of pre-chemotherapy Hodgkin's disease. There was marked improvement in haematological profile and regression of hepatosplenomegaly with Amphotericin B treatment followed by favourable response to chemotherapy. The case emphasizes the suspicion for leishmaniasis as a masquerader and as an opportunistic infection in haematological malignancies

Acute Pancreatitis Complicating Acute Hepatitis E Virus Infection: A Case Report and Review

Acute pancreatitis complicating fulminant viral hepatitis has been well recognized; however, acute pancreatitis occurring in nonfulminant hepatitis is very rare. The case presented describes moderate pancreatitis in a young male, manifesting during the course of nonfulminant acute hepatitis E infection. The diagnosis of acute viral hepatitis E was confirmed by serology and reverse transcriptase polymerase chain reaction (RT-PCR) to demonstrate Hepatitis E virus (HEV) RNA in both stool and serum. Patients with acute viral hepatitis presenting with severe abdominal pain should have a diagnosis of acute pancreatitis suspected and appropriate investigations including serum amylase, lipase, biliary ultrasonography and/or contrast-enhanced computed tomography of the abdomen should be undertaken. The identification of this unusual complication of Hepatitis E is important; however, the prognosis for patients with Acute Pancreatitis Complicating Acute Hepatitis E Virus Infection is good, and uncomplicated recovery with conservative treatment is expected

A rapidly developing lung mass diagnosed as desmoplastic small round cell tumor

We present a case of a young male who presented with complaints of fever along with cough and sputum. He was diagnosed with having right pleural effusion. He was already taking anti-tubercular therapy for one month before presentation. He was started on intravenous antibiotics and continued on anti-tubercular therapy in our hospital, based on his high leukocyte count, pleural fluid analysis, and ultrasonographic report of multiple hypoechoic areas in the liver. His symptoms continued to worsen and he subsequently developed mediastinal widening and a left lung mass. Commuted tomography (CT)-guided biopsy of the lung mass revealed a desmoplastic small-round-cell tumor. Desmoplastic small-round-cell tumor is a rare and aggressive tumor, which presents rarely as a mediastinal and lung mass. This tumor has very poor prognosis

Geste antagoniste in dystonia: Demystifying the tricks

Sensory tricks, also known as “geste antagoniste” or “alleviating maneuvers,” refer to specific maneuvers that temporarily improve dystonic postures; this is often considered to be a hallmark of primary dystonia. Although classically described to be simple activities such as a gentle touch, they can be complex and multisensory, including tactile, proprioceptive, visual, auditory, and thermal stimuli or even imaginary tricks. To date, there is no concrete concept to explain the mechanisms by which geste antagoniste alleviate dystonia. The suggested mechanisms imply an increase in intracortical facilitation in dystonia, and balance between facilitation and inhibition is restored by the geste. This narrative review aims to provide a brief overview of geste antagoniste, covering the historical aspects, types of geste, known mechanisms, and implications

A multicentre study on grey matter morphometric biomarkers for classifying early schizophrenia and parkinson’s disease psychosis

Abstract Psychotic symptoms occur in a majority of schizophrenia patients and in ~50% of all Parkinson’s disease (PD) patients. Altered grey matter (GM) structure within several brain areas and networks may contribute to their pathogenesis. Little is known, however, about transdiagnostic similarities when psychotic symptoms occur in different disorders, such as in schizophrenia and PD. The present study investigated a large, multicenter sample containing 722 participants: 146 patients with first episode psychosis, FEP; 106 individuals in at-risk mental state for developing psychosis, ARMS; 145 healthy controls matching FEP and ARMS, Con-Psy; 92 PD patients with psychotic symptoms, PDP; 145 PD patients without psychotic symptoms, PDN; 88 healthy controls matching PDN and PDP, Con-PD. We applied source-based morphometry in association with receiver operating curves (ROC) analyses to identify common GM structural covariance networks (SCN) and investigated their accuracy in identifying the different patient groups. We assessed group-specific homogeneity and variability across the different networks and potential associations with clinical symptoms. SCN-extracted GM values differed significantly between FEP and Con-Psy, PDP and Con-PD, PDN and Con-PD, as well as PDN and PDP, indicating significant overall grey matter reductions in PD and early schizophrenia. ROC analyses showed that SCN-based classification algorithms allow good classification (AUC ~0.80) of FEP and Con-Psy, and fair performance (AUC ~0.72) when differentiating PDP from Con-PD. Importantly, the best performance was found in partly the same networks, including the thalamus. Alterations within selected SCNs may be related to the presence of psychotic symptoms in both early schizophrenia and PD psychosis, indicating some commonality of underlying mechanisms. Furthermore, results provide evidence that GM volume within specific SCNs may serve as a biomarker for identifying FEP and PDP

Observation of the J/ψ→μ+μ−μ+μ− {\mathrm{J}/\psi} \to\mu^{+}\mu^{-}\mu^{+}\mu^{-} decay in proton-proton collisions at s= \sqrt{s} = 13 TeV

The ${\mathrm{J}/\psi} \to\mu^{+}\mu^{-}\mu^{+}\mu^{-}$ decay has been observed with a statistical significance in excess of five standard deviations. The analysis is based on an event sample of proton-proton collisions at a center-of-mass energy of 13 TeV, collected by the CMS experiment in 2018 and corresponding to an integrated luminosity of 33.6 fb$^{-1}$. Normalizing to the ${\mathrm{J}/\psi} \to\mu^{+}\mu^{-}$ decay mode leads to a branching fraction of $[$ 10.1 $^{+3.3}_{-2.7}$ (stat) $\pm$ 0.4 (syst) $] \times$ 10$^{-7}$, a value that is consistent with the standard model prediction.The J/ψ→μ+μ-μ+μ- decay has been observed with a statistical significance in excess of five standard deviations. The analysis is based on an event sample of proton-proton collisions at a center-of-mass energy of 13 TeV, collected by the CMS experiment in 2018 and corresponding to an integrated luminosity of 33.6  fb-1. Normalizing to the J/ψ→μ+μ- decay mode leads to a branching fraction of [10.1-2.7+3.3(stat)±0.4(syst)]×10-7, a value that is consistent with the standard model prediction.The J/$\psi$$\to$$\mu^+\mu^-\mu^+\mu^-$ decay has been observed with a statistical significance in excess of five standard deviations. The analysis is based on an event sample of proton-proton collisions at a center-of-mass energy of 13 TeV, collected by the CMS experiment in 2018 and corresponding to an integrated luminosity of 33.6 fb$^{-1}$. Normalizing to the J/$\psi$$\to$$\mu^+\mu^-$ decay mode leads to a branching fraction [10.1 $^{+3.3}_{-2.7}$ (stat) $\pm$ 0.4 (syst)] $\times$ 10$^{-7}$, a value that is consistent with the standard model prediction

The CMS Statistical Analysis and Combination Tool: COMBINE

International audienceThis paper describes the COMBINE software package used for statistical analyses by the CMS Collaboration. The package, originally designed to perform searches for a Higgs boson and the combined analysis of those searches, has evolved to become the statistical analysis tool presently used in the majority of measurements and searches performed by the CMS Collaboration. It is not specific to the CMS experiment, and this paper is intended to serve as a reference for users outside of the CMS Collaboration, providing an outline of the most salient features and capabilities. Readers are provided with the possibility to run COMBINE and reproduce examples provided in this paper using a publicly available container image. Since the package is constantly evolving to meet the demands of ever-increasing data sets and analysis sophistication, this paper cannot cover all details of COMBINE. However, the online documentation referenced within this paper provides an up-to-date and complete user guide