Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

OBJECTIVE: Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited evidence for optimal surveillance strategies in hereditary PPGL. We aim to detail the clinical presentation of PPGL in our cohort of non-index SDHB and SDHD pathogenic variant carriers. METHODS: Retrospective analysis of medical and genetic records from a single tertiary referral centre identified SDHB or SDHD pathogenic variants in 74 non-index cases (56 SDHB and 18 SDHD). Surveillance screening for asymptomatic relatives consisted of annual plasma metanephrine measurement and whole-body MRI with contrast at 3-5 yearly intervals. RESULTS: Twenty-three out of 74 non-index patients (10 SDHB and 13 SDHD) were diagnosed with PPGL, 17 patients through surveillance screening (24 tumours in total) and 6 diagnosed prior to commencement of cascade screening with symptomatic presentation. MRI with contrast identified PPGL in 22/24 screen-detected tumours and 5/24 tumours had elevated plasma metanephrine levels. Penetrance in non-index family members was 15.2 and 47.2% for SDHB carriers and 71.6 and 78.7% for SDHD carriers at age of 50 and 70 years, respectively. CONCLUSION: Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance.

Children's Reactions to Flood Disaster in Kashmir.

BACKGROUND: The flood disaster of 9th-10th September 2014 wreaked havoc in the Jammu and Kashmir region of India. Incessant rains and deluge claimed 283 lives and damaged 2.53 lakh houses. This article presents the findings of the psychosocial care team from the National Institute of Mental Health and Neuro Sciences, Bengaluru, India, during the early phase of disaster. MATERIALS AND METHODS: The team assessed posttraumatic stress symptoms of 64 child survivors from six villages of two districts struck by floods using Children's Revised Impact of Event Scale (CRIES)-8 and qualitative narrations. RESULTS: Children showed high levels of intrusion and avoidance in the aftermath of floods. Both boys and girls showed moderate to severe level of psychological impact on the domains of CRIES-8. The narrations by the children centred on the theme of "water" and "enjoyment in seeing lots of water;" followed by "fearing of the parent's life," later on "fear of their own life," and subsequently to avoidance to go near the river and nightmares like "floating in the water." CONCLUSION: Disasters immensely impact children because of their particular stage of psychological and social development. This highlights the need for psychosocial interventions to minimize the impact of disasters on children at the earliest using simple psychosocial care techniques by employing available community-based manpower.