நரம்பியல் கோளாறுகள்

Biallelic Mismatch Repair Deficiency (BMMRD) is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline mutations in one of four mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease. Given the rarity of the syndrome, often asymptomatic tumors and overlap with neurofibromatosis-1, diagnosis is frequently unrecognized or delayed. A high degree of clinical awareness is needed to identify new cases. Immunohistochemical assessment of MMR protein expression and analysis of microsatellite instability are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR immunohistochemical shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. We present a unique case of a young boy diagnosed with invasive colon adenocarcinoma and brain tumor, with classical BMMRD features, found to have biallelic pathogenic PMS2 mutations.

Background: Harlequin syndrome is a rare dysautonomia syndrome characterized by increased sweating on one side and anhidrosis on the contralateral side of the body.

Case report: A 24 years old male presented with fever, multiple episodes of focal seizures with bilateral tonic clonic movements and altered sensorium. On evaluation, he was diagnosed as a case of Herpes Simplex Encephalitis based on classical radiological and positive cerebrospinal fluid real time polymerase chain reaction test for herpes simplex virus 1. He received full course of intravenous acyclovir during hospital stay and discharged on two antiepileptics. During follow up, he developed increased sweating on one half of face and anhidrosis over another half suggestive of Harlequin syndrome. However, these symptoms subsided by its own without any active intervention during further follow up.

Conclusion: To the best of our knowledge, this is the first report of Harlequin syndrome secondary to herpes simplex encephalitis.

Background: Studies have shown that the phenomenon of fetal malformations can cause serious psychological problems and even depressive symptoms of pregnant women during their perinatal period. Psychological studies have shown that involving these women into appropriate interventions and treatments can effectively alleviate their depressed symptoms. With the prevalence of mobile technologies and online social networks, practitioners and researchers have been dedicating to move the offline intervention strategies to online platforms for the treatment of depression caused by fetal malformations.

System design: We design an online Depression Intervention system (DEPINV), suitable for the online intervention of depressed woman suffering from fetal malformations. There are three main features in the design of DEPINV. First, it intends for the effective coordination and interaction among three types of user roles in order to reach a tripartite synergistic therapy effect. Second, it focuses on the assessment and monitoring of users’ psychological state, and the Accept Cognition Theory (ACT) is introduced into the design of the system for the intervention. Third, various communication channels are provided to assist users’ coordination and ACT based intervention.

System implementation: To make the access easy and flexible, we adopt the WeChat applet as the development and deploying technical framework. Therefore, DEPINV is a WeChat applet that can be accessed by simply scanning the Quick Response (QR) code. It cooperates three types of users, the healthcare providers, depressed women and their family members. That is, DEPINV helps healthcare providers to maintain and manage the psychological states of depressed women with the involvement of their family members. There are six successive stages in the core function of the ACT based intervention and each target for the accomplishment of one specific psychological state. Through the comprehensive management of treatment procedure, DEPINV applet helps healthcare providers record and monitor the dynamic change of patients' affections. To cope with the negative emotions of depressed women, various channels of information support, social support and emotional support are also provided for instant communication between healthcare providers and family members.

Conclusion: The DEPINV applet provides effective online interventional strategies and treatments for depressed women with the help of both healthcare providers and their family members. When more interventional features and functions are included, it is necessary to extend the applet into a mental health app.

Introduction: Craniosynostosis is defined as the early and pathological closure of one or several skull sutures which limits brain growth and development. It has an incidence of 1 over 2000-2500 live births. Main concerns about its surgical management refers to the preoperative study, surgical timing and technique.

Methods: For this study we retrospectively review medical records of patients surgically treated in our institution between January 2006 and December 2021. We studied variety, sex and age distribution, surgical technic and complications.

Results: During the period of study 84 children were surgically treated, 69% were males (58 patients) with a mean age of 6 months, the follow-up period was between 1-180 months. The variety distribution of non syndromic craniosynostosis was scaphocephaly (51;61%) trigonocephaly (14;16.5%) anterior plagiocephaly (8;9.5%), brachycephaly (3;3.5%) posterior plagiocephaly (2;2.5%) and one case of oxycephaly (1%), we described 5 syndromic cases (6%). There were 4 complications and no mortality in our series.

Discussion: In our series of 84 patients we had a sex and variety distribution similar to other reposts. Our incidence and type of complications was also similar to those described by other authors.

Conclusion: Craniosynostosis is a rare entity in the general population but usual in pediatric neurosurgery, it's early recognition and adequate referral to a specialized unit gives the better chances of good esthetic and functional results for the patient.

Objectives: In this study, we aimed at investigating putative neuropsychological long term impairments of cognitive flexibility, verbal long term memory, and theory of mind in patients with atrial fibrillation depending on frontal silent cerebral lesions 6-9 years after pulmonary vein isolation with a pulmonary vein ablation catheter. Background: The pulmonary vein ablation catheter (PVAC) shows an increased prevalence of developing silent cerebral lesions after pulmonary vein isolation in patients with atrial fibrillation. Methods: 20 participants were medically and neuropsychologically examined and underwent MRI of the brain. Results: Most lesions were located in the frontal lobes. Largeness of frontal lesions positively correlated with poorer verbal memory performance. Moreover, selective impairments of executive functions were associated with the extent of lesions. Symptom severity of atrial fibrillation correlated positively with impaired executive functions. Negative correlations were found between the risk of stroke and both executive functions and theory of mind. Conclusion: These data demonstrate for the first time evidence for specific persisting long term impairments in verbal memory and selective executive functions related to silent cerebral lesions in the frontal lobes in patients with atrial fibrillation 6-9 years after ablation with a PVAC catheter. We propose that MRI and comprehensive neuropsychological assessment should be accomplished in clinical routines before, immediately after and at different follow up time points. Such longitudinal assessment may help to better understand the incidence and development of silent cerebral lesions and thus predict the risk of persisting cognitive disturbances in patients with atrial fibrillation treated with PVAC PVI and other pulmonary vein isolation methods.