Mickey Mouse sign in a case of polyostotic Paget’s disease

Paget’s disease of bone is an osseous dysplasia affecting the middle-aged and elderly population. It is most common in Northern Europe and Australia and is rare in Asia and Africa. We report a case of 50 year old menopausal female, who presented to us with features of polyostotic Paget’s disease of bone. The classical radiographic and bone scintigraphic findings of the patient have been described

Development and design of the first structured clinic-based program in lower resource settings to transition emerging adults with type 1 diabetes from pediatric to adult care

Introduction Type 1 diabetes (T1D) is increasing in young people worldwide and more children in resource limited settings are living into adulthood. There is a need for rigorous testing and reporting of evidence-based and stakeholder-informed strategies that transition individuals with T1D from pediatric to adult care. We present the development of and design of the first structured transition program in Delhi, India, to inform similar efforts in India and resource limited settings. Methods The intervention development team included clinicians and researchers with expertise in T1D and the implementation context. To select intervention outcomes, establish intervention targets, and design session modules, we drew upon formative research conducted at prospective intervention implementation sites, consensus guidelines, and previous care transition and behavior change research conducted in developed settings. We used the Template for Intervention Description and Replication and GUIDance for the rEporting of intervention Development checklists to report the intervention and development process. Results The 15-month program (“PATHWAY”) includes five quarterly ~30 minute sessions delivered predominantly by diabetes educators at pediatric and adult clinics, which coincide with routine care visits. Primary program components include educational and behavioral sessions that address psychosocial drivers of clinic attendance and self-management, diabetes educators as transition coordinators and counselors, and a one-year “overlap period” of alternating visits between pediatric and adult providers. Conclusions We followed a systematic and transparent process to develop PATHWAY, which facilitated rich description of intervention context, guiding principles, targets, and components. Dependence on previously published program examples to design PATHWAY may have introduced challenges for program feasibility and effectiveness, underscoring the importance of input gathering from prospective intervention actors at multiple points in the development process. This detailed report in combination with future evaluations of PATHWAY support efforts to increase rigorous development and testing of strategies to improve outcomes among emerging adults with T1D

ACTH resistance syndrome: An experience of three cases

The term adrenocorticotropin (ACTH) resistance syndrome is used for a group of rare inherited disorders, which present with primary adrenal insufficiency during childhood. The syndrome includes two disorders inherited in an autosomal recessive fashion – familial glucocorticoid deficiency and triple A syndrome. Herein, we report our experience of three cases with ACTH resistance syndrome, highlighting the approach to diagnosis and management in such patients

Low-density lipoprotein apheresis in a pediatric patient of familial hypercholesterolemia: Primi experientia from a tertiary care center in North India

Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz., bilateral Achilles tendon, both knees, elbows, both pinnae, and outer canthus of both eyes. She had a strong family history of borderline hypercholesterolemia and was diagnosed as a case of FH. She was maintained on diet modification. LDL-apheresis was planned as the cholesterol levels were not controlled with the diet modificationt. However, unavailability of an appropriate kit in India for LDL-apheresis led to the use of the modified PL1 kit meant for therapeutic plasma exchange procedures. We conducted two sessions of LDL-apheresis. After the first session, the LDL-cholesterol (LDL-C) level fell by 75.9% and the total cholesterol fell by 73.5%. A second procedure led to a decline in total cholesterol level by 18.6% and LDL-C by 19.46%. Subsequently, she was advised diet modification and statin therapy with regular follow-up after every 6 months. Thus, the cascade filtration technique is a safe and effective treatment option for removing the undesired lipoproteins