1637 Spectrum of cases of inborn errors of immunity and their clinical and laboratory profile: a case series from a tertiary care hospital in South India

Abstract Objectives To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. Methods A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID. Serum immunoglobulin levels and other targeted investigations were performed as warranted by the clinical presentation. All families with suspected PID were counseled and offered genetic testing. Results A total of 225 children were evaluated for PID during the study period of 6 y. Fifty-six of them did not meet the European Society of Immunodeficiencies (ESID) criteria (working definition of clinical diagnosis) and were excluded. An IEI was found in 30/49 (61.2%) patients. The most frequent reason for referral was recurrent/unusual or serious infections (28%), or cytopenia (16%). Group IV diseases of immune dysregulation was the most common category (19%), followed by group III predominant antibody deficiencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classification. Conclusions This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and efforts to provide optimal care for children with possible IEI in this center.

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Neurocysticercosis – A Window to Intraocular Involvement

Nepalese Journal of Ophthalmology ◽

10.3126/nepjoph.v7i2.14963 ◽

2016 ◽

Vol 7 (2) ◽

pp. 135-141

Author(s):

BN Kalpana ◽

HR Samhitha ◽

Kailash P Chhabria ◽

Sonali Muralidhar ◽

Kirti Raj

Keyword(s):

Retinal Detachment ◽

South India ◽

Tertiary Care Hospital ◽

Tertiary Care ◽

Case Series ◽

Positive Association ◽

Care Hospital ◽

Retrospective Case ◽

Tractional Retinal Detachment ◽

Number Of Patients

Objective : To analyse the clinical characteristics of intraocular cysticercosis and the association of neurocysticercosis with intraocular involvement in these patientsMaterials and methods: Retrospective case series of records of patients managed at a Tertiary Care Hospital in South India. Case records of patients managed at a Tertiary Care Hospital in South India over two years (October 2012 – October 2014) were reviewed and cases reported with intraocular cysticercosis were included in the study and results analyzed.Results: Five (5) patients of intraocular cysticercosis were diagnosed in a two year period at our centre, 60% being bilateral. Eight (8) eyes of five (5) patients had intraocular cysts documented by clinical examination and B mode ultrasonography (75% eyes with active cysts, 25% eyes inactive) .Visual acuity at presentation of eyes with active cysts ranged from perception of light to counting finger 4m. The 75% eyes had tractional retinal detachment at presentation. Neurocysticercosis was documented in 80% of the cases oncomputed tomography / magnetic resonance imaging . Six (6) eyes with active cysts underwent parsplanavitrectomy with cyst removal using vitreous cutter with concurrent management of tractional retinal detachment in five (5) eyes. Postoperative visual recovery was poor in eyes with associated tractional retinal detachment while good anatomical outcome was achieved in all six (6) cases.Conclusion: Intraocular cysticercosis can be associated with cysts in other areas. High number of patients with neurocysticercosis (80%) in those with intraocular cysticercosis in our study may indicate positive association between the two which needs further investigation.

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Melioidosis: a case series from coastal Karnataka, India

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20194332 ◽

2019 ◽

Vol 7 (10) ◽

pp. 3920

Author(s):

Shabari M. Shenoy ◽

Ankith Vaidya ◽

Chethan Subramanya

Keyword(s):

Infectious Disease ◽

South India ◽

Tertiary Care Hospital ◽

Tertiary Care ◽

Case Series ◽

Gram Negative Bacteria ◽

Care Hospital ◽

Gram Negative ◽

Coastal City ◽

Sporadic Cases

Melioidosis is an infectious disease caused by gram negative bacteria B. pseudomallei. The disease is largely under diagnosed globally. Sporadic cases have been reported from India, distributed mostly in the coastal areas. Authors present a series of seven culture proven cases of Melioidosis treated at a tertiary care Hospital in the coastal city of Mangalore in South India.

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