scholarly journals Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Author(s):  
Harsha Prasada Lashkari ◽  
Manisha Madkaikar ◽  
Aparna Dalvi ◽  
Maya Gupta ◽  
Jacinta Bustamante ◽  
...  

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.

2021 ◽  
Vol 12 (01) ◽  
pp. 133-136
Author(s):  
Vykuntaraju K. Gowda ◽  
Preeti Kulhalli ◽  
Dhananjaya K. Vamyanmane

Abstract Background Cytomegalovirus (CMV) is a ubiquitous herpes virus. It is the most common congenital viral infection. Data on congenital CMV in India are lacking and hence the present study was undertaken. Objectives The aim of the study is to evaluate the clinical and radiological profile of neurological manifestations of congenital CMV infections in tertiary care hospital. Methods This is a retrospective chart review of the clinical and laboratory profile of congenital CMV infections presenting from January 2018 to February 2020 to a tertiary care hospital in Southern India. Details of clinical profile, serological and neuroimaging data were obtained and analyzed. Results A total of 42 cases with female preponderance (57%) were reported during the study period. The mean age of presentation was 2.9 years. Clinical features were developmental delay (81%), microcephaly (93%), seizures (33%), intrauterine growth restriction (19%), neonatal encephalopathy (10%), anemia (9%), jaundice (10%), hepato-splenomegaly (7%), and eye abnormalities (14%). Antenatal maternal fever was reported by 12%. Sensorineural hearing loss was present in 57%. Neuroimaging showed periventricular calcification (79%), cerebral atrophy (69%), ventricular dilatation (55%), malformations (26%), dysmyelination (12%), and temporal lobe cysts (5%). CMV-immunoglobulin-M positivity was seen in 14 cases (33%), urinary polymerase chain reaction for CMV was positive in 21 cases (50%), and clinical diagnosis was done in seven cases (16%). Conclusion Common findings in congenital CMV are microcephaly, developmental delay, seizures, anemia, and sensorineural hearing loss. Common neuroimaging findings are periventricular calcification, cerebral atrophy, malformation, white matter signal changes, and cysts. CMV can mimic like cerebral palsy, malformations of the brain, demyelinating disorders, and calcified leukoencephalopathies like Aicardi-Goutières syndrome.


Author(s):  
Sadagoban G. Krishnamoorthy ◽  
Vyshak Raj ◽  
Balasubramaniam Viswanathan ◽  
Ganga Priyadharshini Dhanasekaran ◽  
Dhivyaprasath Palaniappan ◽  
...  

2018 ◽  
Vol 48 (5) ◽  
pp. 1030-1035
Author(s):  
Sudipta PATRA ◽  
Yasha MUKIM ◽  
Muralidhar VARMA ◽  
Chiranjay MUKHOPADHYAY ◽  
Vandana KALWAJE ESHWARA

2019 ◽  
Vol 10 (3) ◽  
pp. 1818-1820
Author(s):  
Jagadeesan M ◽  
Mariraj I ◽  
Prasanna Karthik S ◽  
Kannan R ◽  
Nivaas M ◽  
...  

Worm infection is a public health problem, especially in developing and underdeveloped countries as it has a negative impact on the child’s development. Proper sanitation and personnel hygiene have to be emphasized and monitored to overcome the nutritional deprivement in children. The study is done to evaluate the knowledge and attitude about worm infestation and to assess the deworming practices employed among the caregivers of children aged between 5 – 12 years attending a tertiary care hospital. A cross-sectional descriptive study was conducted among 206 caregivers of pediatric age group after obtaining proper informed consent. The KAP parameters were assessed using a pretested structured questionnaire, and the results were analyzed. Out of 206 caregivers, 61% were mothers, 37% were fathers. Their mean age was 30 years. 41% belong to class III socioeconomic status. 23% were reported to play in the mud, 17% nail-biting and 6% keeping objects in mouth.12% Had open-air defecation practice, which is quite alarming in a developing country.67% were found to have the knowledge and 33% lacked the knowledge about worm infestation. Knowledge was directly proportional to the socioeconomic class. 88% were aware that worm infestation would cause clinical manifestations. 85% preferred allopathy medicines, while 15% preferred homemade remedy. 68% didn’t practice any prophylactic measures, where in 21% of the caregivers dewormed their kid once in 6 months and 11% once a year. The study provides information that most of the caregivers had a good knowledge regarding deworming but failed in practicing necessary measures to control and prevent it. Health education, frequent monitoring, and conducting interventional programs among parents and caregivers would be vital so that the prevalence of the disease can be minimized.


2013 ◽  
Vol 2 (1) ◽  
pp. 10-13 ◽  
Author(s):  
Ajay Risal ◽  
Pushpa Prasad Sharma ◽  
Rajkumar Karki

Background and Aims- Self-poisoning is the commonest mode of suicide in our part of the world. Patients attempting suicide by self-poisoning usually land up in the Emergency. They are admitted for management of medical complications and subsequently referred to Psychiatry for evaluation of possible Psychiatric illnesses. The aim of this study was to explore the patterns of psychiatric illnesses in the patients admitted for self-poisoning in a tertiary care center in Nepal. Methods- The study population included those patients who were admitted and being managed for self-poisoning and brought for psychiatric evaluation during the period of one year (1st June 2011- 30th June 2012) at Dhulikhel Hospital, Nepal. Each patient underwent a detailed psychiatric evaluation by a consultant psychiatrist once they were medically stable. Details including sociodemographic data, psychiatric diagnosis, and treatment offered and outcome was tabulated and analyzed using SPSS-16. Results- Among the total patients (N=100), 43 were in the age group 21-40 years, median age being 27.5. There was almost equal gender distribution. Majority was of Mongolian ethnicity, homemaker by occupation and married. More than 90% were single-attempters, suicidal attempt using organophosphorus compounds. Almost 50% had depression; family dispute (19%) and marital disharmony (17%) were the most common psychosocial precipitant. Conclusion- Patients with history of self-poisoning are commonly brought to the Emergency Department of any tertiary care hospital. It is widely prevalent on younger age group. It is usually by the use of Organophosphorus compound in our setting and most commonly associated with depression. Hence, psychiatric care is essential for these patients. Journal of Advances in Internal Medicine 2013;02(01):10-13 DOI: http://dx.doi.org/10.3126/jaim.v2i1.7630


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