Ketan P Kulkarni

Publications (18) View all

• Article: Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

  Inusha Panigrahi, Rashmi R Das, Ketan P Kulkarni, Ram K Marwaha
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  ABSTRACT: Mohr syndrome [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital anomalies. The features of OFD type II overlap with those of OFD type VI, Joubert syndrome, and short rib polydactyly (Majewski syndrome). Patients with OFD seen in our genetics in the last 4 years were reviewed. Of the five patients with OFD seen, two had Y-shaped metacarpals and other abnormalities consistent with the phenotypic spectrum of Mohr syndrome. They also had the additional radiological features of hypoplastic middle phalanges of index fingers and a hypertrophied or enlarged metatarsal with multiple phalanges arising from it. We hypothesize that type II and type VI OFD syndromes represent a continuum of the same phenotypic spectrum with severe central nervous system abnormalities at the more severe end of the spectrum.
  Clinical dysmorphology 03/2013; · 0.47 Impact Factor
• Article: Appendix Carcinoids in Childhood: Long-Term Experience at a Single Institution in Western Canada and Systematic Review on Topic.

  Ketan P Kulkarni, Consolato Sergi
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  ABSTRACT: PURPOSE: The objective is to describe our management experience of children with appendix carcinoids (AC). METHOD: We first performed a systematic review of the literature pertaining to appendix carcinoids in the pediatric population. PubMed, EMBBASE and SCOPUS and most significant Congress proceedings were reviewed. In addition we retrieved the charts and files at our Stollery Children's Hospital, University of Alberta, Edmonton, Canada. We compared our data with the scientific literature review. RESULTS: Between January 2000 and October 2010, seven patients had AC at our institution. Mean age at diagnosis was 15 years while the male:female ratio was 3:4. Five out of seven patients presented with acute appendicitis. Size ranged up to 1.4 cm. In one case only lymph node metastases were observed. No distant metastases were seen in any patient. Carcinoid was low grade in all seven children. One patient suffered from FAP. At a mean follow-up of 53.4 months, the outcome was excellent with all patients alive without disease. In the systematic review, we identified 206 studies referring to AC in children. Most series on childhood AC were small single center series with 2-19 patients. CONCLUSIONS: To the best of our knowledge older age (>10 years) at diagnosis, female preponderance, and tumor diameter <1.5 cm were the salient observations in our study. Surgical resection at an early stage allows for excellent prognosis without the need for any additional surgical or adjuvant treatment. Genetic counseling may be appropriate in view of the possible association with colonic adenocarcinoma.
  Pediatrics International 01/2013; · 0.63 Impact Factor
• Article: Seasonality in Diagnosis of Childhood Acute Lymphoblastic Leukemia: Impact on Disease Presentation, Survival Outcome and Resources.

  Ketan P Kulkarni, Ram K Marwaha
  Journal of Pediatric Hematology/Oncology 12/2012; · 1.16 Impact Factor
• Article: Outcome of Acute Lymphoblastic Leukemia in India: The Challenges Ahead.

  Ketan P Kulkarni, Ram K Marwaha
  Journal of Pediatric Hematology/Oncology 10/2012; · 1.16 Impact Factor
• Article: Mortality pattern in childhood acute lymphoblastic leukemia with sepsis as a major barrier.

  Ketan P Kulkarni, Ram K Marwaha
  Journal of Pediatric Hematology/Oncology 08/2012; 34(6):264-5. · 1.16 Impact Factor