Publications by authors named "Daniel Roshan"

9 Publications

  • Page 1 of 1

Health-related quality of life and fatigue perception in children with congenital adrenal hyperplasia: A Developing nation perspective.

Pediatr Endocrinol Diabetes Metab 2021 ;27(4):266-271

Division of Pediatric Endocrinology, Department of Pediatrics, PGIMER, India.

Introduction: Disease chronicity, lifelong medications, Adrenal crisis, and genital surgeries affect the physical, mental, school and social aspects of a child's life and are a cause of great concern to parents regarding the future of their child with Congenital Adrenal Hyperplasia (CAH). The aim of the study was to assess quality of life (QoL) in children and parents of CAH and comparison with healthy children.

Material And Methods: This was a questionnaire-based cross-sectional study in 28 children with classical CAH attending the Pediatric Endocrine clinic at a tertiary-care center in northern India.

Results: CAH children had poorer QoL in School domain (73.6 vs. 90.0; p = 0.034) and significantly lower scores than their healthy peers in General (83.1 vs. 91.7, p = 0.025), Sleep (74.4 vs. 84.2, p = 0.017) domains and total score (80.0 vs. 87.8, p = 0.008) of the Fatigue scale. Parents reported Social (72.4 vs. 84.5; p = 0.009), School (63.8 vs. 90.0; p 0.01) and Total (74.3 vs. 84.2; p = 0.024) QoL were scores significantly lower than parents of healthy children. Parents perceived scores of Fatigue scale were significantly worse in all domains when compared to parents of healthy children. Failure to thrive was found to be a significant risk factor for impaired school (r  = -0.533; p = 0.013) and overall (r = -0.563; p = 0.008) QoL as perceived by the child.

Conclusions: Children and parents have different perception of QoL for their child. Routine periodic QoL assessment will help in better understanding of child and parent's hidden concerns which remain unaddressed in busy clinical practice.
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February 2022

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.

Indian J Pediatr 2022 Jan 30. Epub 2022 Jan 30.

Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, 160012, Chandigarh, India.

Objective: To characterize the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia (CAH).

Methods: A prospective, cross-sectional study was conducted on 24 children with classic CAH. Molecular characterization of the CYP21A2 gene was carried out by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), or clinical exome sequencing. Another 21 previously mutation-proven CAH patients were also included and a combined result was drawn.

Results: Out of 45 children, pathogenic variants in the CYP21A2 gene were identified in 43 patients (95.5%). Homozygous, probable compound heterozygous, and heterozygous variants were seen in 69%, 22%, and 18% of patients, respectively. The most common variant was c.293-13C/A>G (33%), followed by deletion/duplication (24%), and c.955C>T (p.Gln319Ter) (21%), similar to previous Indian studies. Allelic frequencies of c.332_339del and c.518 T>A (p.Ile173Asn) were 9% and 4%, respectively. Less common variants were c.923dupT (p.Leu308PhefsTer6), c.92C>T (p.Pro31Leu), c.1069C>T (p.Arg357Trp), c.1267G>C (p.Gly423Arg), and c.710_719delins (p.Ile237_Met240delinsAsnGluGluLys). A good genotype-phenotype correlation was observed; only p.Pro31Leu and p.Ile173Asn variants showed discordance. The diagnostic yield of Sanger sequencing alone, Sanger sequencing with MLPA, and clinical exome alone was 85%, 100%, and 100%, respectively.

Conclusions: All children, except two, diagnosed clinically as classic CAH, showed pathogenic variants in the CYP21A2 gene; the most common variant was c.293-13 C/A>G. The results suggest a broad mutation spectrum in the authors' single-center cohort of children with CAH. Clinical exome sequencing is the preferred stand-alone method for molecular diagnosis of CAH.
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January 2022


J Paediatr Child Health 2020 08;56(8):1321-1323

From Pediatric Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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August 2020

Catastrophes due to missing complements: C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome.

Rheumatology (Oxford) 2020 07;59(7):1794

Allergy Immunology UnitDepartment of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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July 2020

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

J Matern Fetal Neonatal Med 2009 Oct;22(10):924-7

Department of OB/GYN, Johns Hopkins, 600 N Wolfe Street, Phipps Bldg, Baltimore, Maryland 21287, USA.

Background: Ehlers-Danlos syndrome (EDS) is a rare connective tissue disorder characterized by tissue fragility, translucent skin and joint hypermobility. Patients with the vascular type of EDS are prone to spontaneous arterial and visceral rupture. Pregnancy for women with vascular EDS can be life-threatening. Mortality rates are high due to the increased risk for uterine and arterial rupture in the peripartum period.

Case: We describe the counseling, multidisciplinary management, protocol, and successful pregnancy outcome of a 32-year-old woman with vascular EDS.

Conclusion: There is no consensus in the literature on the timing and mode of delivery for pregnant women with vascular EDS. The management undertaken in our patient may assist others in optimizing the perinatal outcome in other women who elect to continue their pregnancy despite the risks of this severe medical condition.
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October 2009

Antenatal treatment of fetal goiter: a therapeutic challenge.

J Matern Fetal Neonatal Med 2009 Jan;22(1):76-80

Department of Pediatrics, New York University Medical Center, New York, NY 10016, USA.

Objective: Pre-natal ultrasonography presents an opportunity for in-utero therapy of a fetal goiter. Because of the morbidity associated with a large goiter and the risks of repeated intra-amniotic injections, controversy arose about the precise indications of this mode of treatment. We describe our observations in treating a 22-week-old fetus with a large goiter because of dyshormogenesis, monitored with serial 3D high frequency, high resolution ultrasonography and amniotic hormonal measurements. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels. After assessment of relevant risk factors and the criteria for in-utero intervention, including goiter volume, amniotic fluid index, polyhydramnios and tracheal compression, we determined that hormonal therapy was warranted. Levothyroxine was injected every 7-10 days, and its efficacy monitored by ultrasound changes and amniotic hormone sampling.

Results: Reduction in goiter volume restored normal neck flexion relieving the pressure on the trachea, polyhydramnios was prevented and amniotic hormone levels were normalised. The infant was euthyroid at birth, however, by age 4 days hypothyroidism was diagnosed, and treatment with l-thyroxine started.

Conclusion: Advances in fetal ultrasonography permit judicious therapy of an enlarging goiter in a hypothyroid fetus, which may contribute to enhancing cognitive development. We discuss the value of amniotic hormone sampling, the objectives and risks of in-utero intervention in the light of recent literature and our own observations.
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January 2009

Obstetric management of Klippel-Trenaunay syndrome.

Obstet Gynecol 2004 Nov;104(5 Pt 2):1205-8

Department of Obstetrics & Gynecology, New York University School of Medicine, New York, New York, USA.

Background: Klippel-Trenaunay syndrome is a rare congenital disease characterized by extensive cutaneous vascular malformations, venous varicosities, focal abnormalities of the deep venous system, and underlying soft tissue or bony hypertrophy. Given the rarity of the disease, there is little information available to counsel patients with Klippel-Trenaunay syndrome regarding obstetric outcome.

Cases: We report our experience with 3 patients in whom Klippel-Trenaunay syndrome complicated 4 pregnancies. Successful delivery of a healthy infant at or beyond 36 weeks of gestation was achieved in all pregnancies. One of the 4 pregnancies was complicated by pulmonary embolism.

Conclusion: Klippel-Trenaunay syndrome was once thought to be a contraindication to pregnancy. With careful management, successful pregnancies can be achieved.
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November 2004

Vaginal fetal fibronectin as a predictor of spontaneous preterm delivery after multifetal pregnancy reduction.

Am J Obstet Gynecol 2004 Jan;190(1):142-6

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, New York University School of Medicine, New York, NY USA.

Objective: The study was undertaken to assess the validity of vaginal fetal fibronectin assay as a screening test for spontaneous preterm delivery in asymptomatic patients who have undergone multifetal pregnancy reduction (MFPR).

Study Design: A historic cohort of 63 patients who underwent MFPR between 10 and 14 weeks of gestation was identified. All patients underwent serial vaginal fetal fibronectin sampling every 2 to 3 weeks from 22 weeks of gestation until delivery or 32 weeks of gestation. The fetal fibronectin concentration was measured by enzyme-linked immunosorbent assay, with 50 ng/mL or greater indicating a positive result. Charts were reviewed for fetal fibronectin results and pregnancy outcome data. Groups were compared by use of Fisher exact test.

Results: There were 13 singleton and 50 twin gestations after MFPR. A median of 4 fetal fibronectin assays were performed per patient. A total of 234 fetal fibronectin assays were performed with 222 (94.9%) negative results and 12 (5.1%) positive results. Overall, 41.3% of gestations were delivered spontaneously before 37 weeks; 7.9% were delivered before 34 weeks. The mean interval between tests was 17.8 days (+/-7.2 days). For delivery within 2 and 3 weeks of a single test, fetal fibronectin had a sensitivity of 66.7% and 50%, a specificity of 95.7% and 96.1%, a positive predictive value of 16.7% and 25%, and a negative predictive value of 99.5% and 98.6%, respectively.

Conclusion: The fetal fibronectin test has similar validity to predict spontaneous preterm delivery in these high-risk pregnancies as in previously published cohorts.
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January 2004