Spectrum of Primary Immunodeficiency Disorders in Hospitalized Children: Multicentric Data From Kolkata.

OBJECTIVE: To evaluate the incidence and types of primary immunodeficiency diseases (PIDs) in hospitalized children with infection. METHODS: This prospective study was conducted in five tertiary-care facilities in Kolkata over two consecutive years between November 1, 2018 and October 31, 2020. We included all children aged upto 12years who were hospitalized and screened them for PID. Children were screened for suspected IPD using Jeffrey Modell Foundation (JMF) Criteria; any child who satisfied at least 2 out of 10 warning signs was further evaluated for PIDs. RESULTS: Out of 33,204 hospital admissions, 50 children satisfied JMF criteria. Out of 50 children screened during the study period, 27 were finally diagnosed with an underlying PID, with a prevalence of 1 in 1000 hospitalized children. Majority (37.03%) of them had antibody deficiency followed by phagocytic defect (33.3%). Chronic granulomatous disease was the commonest PID followed by common variable immunodeficiency. Around 62.97% children presented with respiratory infections and overall Acinetobacter baumannii was the commonest isolated organism. CONCLUSION: Our study presents the first cohort of PID from eastern India. A methodical step-wise clinical and diagnostic approach can facilitate early diagnosis and timely therapeutic interventions.

Evaluation of vitamin D profile in juvenile idiopathic arthritis.

OBJECTIVE: To observe the association between serum vitamin D level and disease activity in juvenile idiopathic arthritis (JIA). METHODS: The observational study was conducted at a tertiary care hospital during 2017-2019. Patients suffered from JIA were recruited through purposive sampling which was stratified by the disease activity based on the Juvenile Arthritis Disease Activity Score 27 (JADAS27) criteria. Serum vitamin D was estimated alongside other laboratory parameters. The numerical and categorical variables were analysed with appropriate statistical tests. RESULTS: 40 subjects were studied where inactive disease was observed in nine subjects (22.5%), five subjects (12.5%) were found to be in low disease activity and moderate disease activity groups each, and twenty-one subjects (52.5%) had high disease activity. Considering the total sample size of the study, the mean (SD) JADAS27 score and serum vitamin D level were observed to be 12.02 (11.31) and 23.10 (5.93) respectively. A negative correlation was found between the JADAS27 score and serum vitamin D (r= -0.67). The corrected Chi-square test had revealed significant association between the status of serum vitamin-D and disease activity groups (=16.28; p < .001). CONCLUSIONS: In JIA, higher grade of disease activity was found to be significantly associated with lower serum vitamin D.

Performance of SNAPPE-II score in neonatal sepsis: an experience from a tertiary care center.

BACKGROUND AND OBJECTIVES: The Score for Neonatal Acute Physiology II with Perinatal Extension (SNAPPE-II) is a vital tool for prognostication in newborns. The study was conducted with the hypothesis that the performance of the SNAPPE-II score might be affected by the presence of sepsis in newborns admitted with possible early onset septicemia and whether score performance varies between culture positive and culture negative sepsis. METHODS: The prospective observational study was conducted over a period of 1 year (January 2014 to January 2015) in neonates presenting with clinical suspicion of sepsis to the Sick Newborn Care Unit (SNCU) of a tertiary care hospital in Eastern India. RESULTS: SNAPPE-II score cut-off of ≥20 offered the highest sensitivity of 74.5% with specificity 48.3%, PPV 27.6% and NPV 87.7%. Comparison of mortality proportions between the two subgroups defined by this cut-off returned p= 0.005 with OR 3.47 (95% 1.40 to 8.64). No significant association was found between SNAPPE-II score and blood culture results; mean scores for culture positive (25.16 ± 15.6) and negative groups (24.49 ± 15.6) were comparable (p= 0.920). CONCLUSIONS: At a cut-off value of ≥20 in presence of sepsis, SNAPPE-II score offers acceptable indices to predict mortality outcome. Prediction of outcome by SNAPPE-II score is not affected by positive or negative blood culture sepsis.

Ultrasound detected changes in joint cartilage thickness in juvenile idiopathic arthritis.

AIM: The purpose of this study was to investigate the changes in joint cartilage thickness in different subtypes of juvenile idiopathic arthritis (JIA) using ultrasound, comparing them with healthy children and to evaluate the relationship with disease duration and inflammatory markers. METHODS: We conducted a cross-sectional study comprising of 27 cases of JIA and 54 age- and sex-matched healthy children. Bilateral wrist, knee and ankle joint cartilage thicknesses were measured by ultrasound as per European League Against Rheumatism standard guidelines and compared them between JIA subtypes as well as between cases and control. RESULTS: Descriptive analysis of the whole cohort revealed the mean age of the study population was 8.3 ± 3.2 years with mean cartilage thicknesses at the wrist, knee and ankle being 1.40 ± 0.89 mm, 1.57 ± 0.78 mm and 1.41 ± 0.85 mm, respectively. The median cartilage thicknesses of wrist, knee and ankle joints of JIA cases (n = 27) and healthy controls (n = 54) were 1.01, 1.35, 1.05 and 1.95, 2.00, 1.95, respectively. The joint cartilage thickness was significantly reduced in JIA in comparison to the healthy cohort (P < 0.01). Diseased boys suffered greater cartilage damage in knee joints compared to girls; the polyarticular variety of cases had thinner knee cartilage in comparison to the oligoarticular subtype. Further, it was found that joint cartilage destruction is independent of inflammatory markers and disease duration. CONCLUSION: Significant cartilage thinning in addition was found in JIA children, particularly in the polyarticular subtype, and more in boys than girls, which is independent of disease duration and inflammatory markers, using ultrasound as a primary investigative tool.

Extended Sick Neonate Score (ESNS) for Clinical Assessment and Mortality Prediction in Sick Newborns referred to Tertiary Care.

OBJECTIVE: To evaluate utility of a new Extended Sick Neonate Score (ESNS). to predict 'in-hospital mortality' and compare with Score for Neonatal Acute Physiology - Perinatal Extension II (SNAPPE II) and Sick Neonate Score (SNS). DESIGN: Prospective observational study. METHODS: All extramural sick newborns transported to the neonatology unit of a tertiary care teaching hospital over a period of one year. Correlation between ESNS, SNAPPE-II and SNS scoring, and sensitivity/specificity of each score to predict mortality were determined. RESULTS: 961 newborns were enrolled in the study. ESNS, SNAPPE II and SNS were strongly correlated, even when stratified by gestation. ESNS of ≤11 had the best sensitivity (85.9%) and specificity (89.8%). For preterms, ESNS ≤12 had the best sensitivity (92.3%) and specificity (76.7%). CONCLUSION: ESNS can predict 'in-hospital mortality' outcome with satisfactory sensitivity and specificity.

Musculoskeletal manifestations in pediatric patients infected with human immunodeficiency virus: Developing country perspective.

OBJECTIVE: Musculoskeletal manifestations in children infected with human immunodeficiency virus (HIV) are responsible for increased morbidity and decreased quality of life. Even in this era of highly active anti-retroviral therapy (HAART), there are limited studies on different rheumatological manifestations in pediatric patients with HIV, and the spectrum of musculoskeletal manifestation in pediatric HIV is yet to be established. METHODS: A single-center, prospective, observational study was carried out from October 2014 to September 2016 in a tertiary care hospital of Eastern India with 517 children infected with HIV aged between 3 and 19 years. Particulars of musculoskeletal involvement were at first screened with pediatric gait, arm, leg, spine (pGALS) screening protocol, followed by detailed examination in patients identified through screening. All the participants were re-examined at three and six months of follow-up. RESULTS: Musculoskeletal manifestations were found in 11.2% of the study population. The most common non-infective manifestation found in the study population was arthralgia (5.22%), followed by myalgia (3.29%). The prevalence of definite arthritis was found to be 6/1000 children, whereas infective manifestations (including arthritis, myositis, and osteomyelitis) were found in 2.12% of study population. Musculoskeletal manifestations were commonly found in children infected with HIV who were on anti-retroviral drugs. These manifestations were found commonly in the children in the second decade of their lives. Malnutrition, advanced stage of HIV infection (WHO clinical stage 4), lower CD4 count at the time of evaluation, and longer duration of disease were associated with increased frequency of musculoskeletal manifestations. CONCLUSION: Musculoskeletal manifestations are frequent in pediatric population infected with HIV. But for better delineation, further multicentric studies are warranted in future in children infected with HIV.

Survey of musculoskeletal abnormalities in school-going children of hilly and foothill regions of Eastern Himalayas using the pediatric Gait, Arms, Legs, Spine screening method.

OBJECTIVE: To study the prevalence and pattern of musculosketetal abnormalities in school-going children living in the hilly and foothill regions of the Eastern Himalayas using the pediatric Gait, Arms, Legs, Spine (pGALS) screening tool. METHODS: Total of 3608 children, aged 3-12 years were enrolled from 16 schools (5 in the hills) in the eastern Himalayan region. After the three screening questions, the pGALS maneuvers were administered. Subjects were shown a video on pGALS before the actual testing. Those detected to have abnormality were probed in greater detail and referred for treatment as necessary. RESULTS: The pGALS examination was completed in 3463 children with a median time of 3 min (range 1.9-5.4 min). The abnormality pattern was in the order: growing pains (38.86%), hypermobility (25.54%), mechanical pains (24.46%) and others (11.14%). Among mechanical pain, back and neck problems occurred with a similar overall frequency of 7.61%. Similar order was observed considering only children from the pains. However, in hill children, the proportion of mechanical problems (32.28%) exceeded proportion of hypermobility (23.62%). Asymptomatic hypermobility was more common than symptomatic hypermobility. Maximum prevalence of hypermobility was in 6-9 year age group. Of the 94 children with hypermobility, 55.32% had some kind of joint pain. CONCLUSIONS: Pediatric Gait, Arms, Legs, Spine is an acceptable screening tool for musculoskeletal abnormalities in apparently healthy children. Growing pain is the commonest musculoskeletal complaint while hypermobility is the commonest physical abnormality in school-going children in the Eastern Himalayas. Asymptomatic hypermobility is more common than symptomatic hypermobility.

Evaluation of malnutrition as a predictor of adverse outcomes in febrile neutropenia associated with paediatric haematological malignancies.

AIM: Malnutrition has been reported in the literature to be adversely associated with outcomes in paediatric malignancies. Our objective in this paper was to evaluate malnutrition as a potential predictor for adverse outcomes in febrile neutropenia associated with haematological malignancies. METHODS: A prospective observational study was performed in a tertiary care teaching hospital of Kolkata, India. Forty-eight participants, suffering from haematological malignancy, were included. Participants were included if they experienced at least one episode of febrile neutropenia. For children aged <5 years, weight for height, height for age and weight for age were used as criteria for defining malnutrition, while body mass index for age was used in children ≥5 years. A total of 162 episodes of febrile neutropenia were studied. RESULTS: Thirty patients (30/48, 62.5%) included in the study had malnutrition. In bivariate analyses at patient level, there is a strong association between malnutrition and death (odds ratio (OR) 7.286, 95% confidence interval (CI) 0.838-63.345, one-tailed P = 0.044), and life-threatening complications show a moderate trend towards significance (OR 3.333, 95% CI 0.791-14.052, one-tailed P = 0.084). Survival functions were significantly different between malnourished and non-malnourished children (log rank test χ(2) = 4.609, degree of freedom = 1, P = 0.032). Wasting was associated with life-threatening complications in children aged <5 years (OR 14, 95% CI 1.135-172.642, one-tailed P = 0.036). Logistic regression analyses at episode level revealed that phase of treatment and respiratory system involvement were significant predictors of death, while malnutrition was not. CONCLUSION: Malnutrition may be a potential predictor of mortality in febrile neutropenia.

Penile Length and Testicular Volume in Newborns.

OBJECTIVES: To measure Penile length (PL) and Testicular volume (TV) in newborn boys for assessing genital abnormalities. METHODS: In a tertiary care setting, measurements of PL and TV were recorded from 480 babies born on alternate days except the weekend, at 24 to 72 h of life by one investigator with the same set of instruments. The penis was stretched to the point of increased resistance and the distance from the tip of the glans penis to the pubic ramus was measured as the stretched PL. Testicular volume was measured by a Prader orchidometer. Improvised beads made of plasticine were used for recording volumes <1 ml. RESULTS: In the study cohort, 365 (76.04 %) were term babies. The mean PL was 34 ± 4.7 mm for the whole cohort while the corresponding value for mean TV was 0.6 ± 0.2 ml. The gestation age-wise percentile charts of PL and TV have been generated. There was modest positive correlation between PL and TV. Positive correlation was also observed between PL and TV and birth weight, body length, and head, chest and arm circumference. Both PL and TV showed statistically significant increase with gestational age. By the index data, the cut-off for suspecting abnormal penile length should be <24.5 or >45.5 mm for term babies. CONCLUSIONS: The normative values generated can serve as reference standard in the diagnosis of penile length abnormalities in Indian babies and in clarifying issues of ambiguous genitalia and maldevelopment of male external genitalia.

Clitoral Length and Anogenital Ratio in Indian Newborn Girls.

OBJECTIVE: To generate normative data on clitoris length, anogenital distance and anogenital ratio in Indian newborns. DESIGN: Cross-sectional study. SETTING: Neonatal unit of a tertiary care teaching hospital in Kolkata. PARTICIPANTS: 378 female neonates, who were hemo-dynamically stable without critical illness or chromosomal anomaly, and without any vulval hematoma or genital abnormalities. INTERVENTIONS: Measurements were recorded using a digital vernier caliper between 24-72 hours. Infant was held in position by an assistant, while the investigator measured clitoral length by gently retracting the labia majora. Anogenital distance (centre of the anus to posterior convergence of the fourchette) and anogenital ratio (anogenital distance divided by the distance from centre of the anus to base of the clitoris) was also measured. MAIN OUTCOME MEASURES: Gestational age- and birthweight-wise normative values of clitoral length, anogenital distance and anogenital ratios. RESULTS: Mean clitoral length was 3.1 (1.54) mm for the whole cohort while anogenital distance and anogenital ratio were 10.2 (2.78) mm and 0.34 (0.07) mm, respectively. The gestation age-wise percentile charts of clitoral length, anogenital distance and anogenital ratio have been generated. There was no correlation between clitoral length and gestational age, body length, head circumference and birth weight. Correlations were also weak for anogenital distance. CONCLUSION: The normative values generated can serve as reference standard in the assessment of clitoromegaly, ambiguous genitalia, virilizing effects and suspected in utero androgen exposure.

Animal Bites and Rabies Prophylaxis in Rural Children: Indian Perspective.

A prospective observational study was conducted in a tertiary care hospital to study clinicoepidemiological profile of potentially rabid animal bite cases from rural India. Total of 308 children (median age 6 years) admitted to hospital, were recruited over 1 year and followed up till completion of antirabies vaccine course. Dog was the commonest (77.27%) offending animal. Of the exposures, 66.88% were scratches, 88.96% were unprovoked and 27.27% were categorized as Class III. The median times to wound toileting and reporting to health facility were 1 and 6 h, respectively. Majority received prompt PEP in hospital, and RIG was administered in 34.55% of Class II and 90.48% of Class III exposures. Compared with their older counterparts, children aged <5 years suffered more bites on face and trunk and more Class III exposures. The rabies prophylaxis scenario is encouraging, when compared with earlier studies, but there are gaps to be addressed.

Blood pressure variation with gestational age and birth weight in Indian newborn.

Prospective observational study was conducted in a tertiary care hospital of India over 8 months to measure blood pressure (BP) in healthy term and preterm neonates using oscillometric method and explore the associations with gestational age and birth weight. Consecutive BP measurements were taken by standard oscillometric method on 1617 neonates on day 4, 7 and 14 of life. Mean birth weight was 2.7 ± 0.46 kg, and mean gestational age was 38.2 ± 2.12 weeks. The mean arterial pressure (MAP) on day 4, 7 and 14 were 59.3 ± 7.33, 63.2 ± 6.55 and 66.4 ± 6.13 mmHg, respectively. Larger and mature newborns had significantly higher BP than those who were smaller and premature. Birth weight more strongly correlated with MAP than gestational age. Predictive equations linking MAP with gestational age and birth weight were deduced, which can be used for judicious fluid inotrope management.

Childhood Polyarteritis Nodosa: a prospective multicentre study from eastern India.

OBJECTIVE: To delineate the spectrum of clinical presentation and system involvement in childhood Polyarteritis Nodosa (PAN) in a multicentre follow up. METHODS: This prospective observational study included all children less than 12 y attending pediatric rheumatological clinic of four different institutes in West Bengal or admitted with rheumatological symptoms and were diagnosed as childhood PAN by ACR and EULAR/PRES/PRINTO criteria. During the study period of 8 y, 15 cases were categorized as childhood PAN with organ involvement. The children diagnosed as microscopic polyangiitis or cutaneous PAN were excluded. RESULTS: The mean age of presentation was 8.6 ± 2.09 y with male to female ratio of 7:8. All had prolonged fever, severe myalgia, skin involvement and elevated acute phase reactants. Hypertension (93 %) and peripheral neuropathy (46 %) were notable findings. Nine had typical peripheral gangrene with ulceration, whereas rash of livedo reticularis was seen in 6 patients. None had renal, pulmonary or testicular involvement. Diagnosis was established in all patients by skin biopsy which showed necrotizing vasculitis of the medium sized vessels. The clinical presentations and diagnostic parameters were compared between the genders and no statistically significant difference was noted. All patients required corticosteroids while 10 patients needed additional immunosuppressives where there were uncontrolled symptoms of peripheral neuropathy or progressive gangrene despite treatment with corticosteroids. Cyclophosphamide was used most commonly (n = 7). Two required methyl prednisolone. Two children were lost to follow up. One patient had two relapses within three years. No mortality was observed. CONCLUSIONS: This multicentric study on childhood PAN, first of its kind from India, demonstrated a distinctive pattern of system involvement and clinical presentations.