The prevalence of CP and TD is lower than reported from western countries. CP prevalence is also comparatively lower than in many community studies from India. Compared to western nations, higher proportion of FS cases develops epilepsy. A third of the CP cases have seizures which is higher than in many Indian studies. Birth anoxia is a common cause of CP and educational underachievement is frequent.
Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. A total of 2400 cord blood samples were collected and analyzed by high performance liquid chromatography (HPLC). Further confirmation of any abnormal HPLC was done by DNA analysis. The samples were also screened for deficiency of enzymopathies, glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase. Of 2400 cord blood samples screened, 225 (9.3%) were Hb E (HBB: c.79G>A) heterozygotes, 80 (3.3%) were Hb E homozygotes and one carried Hb E-β-thalassemia (β-thal). Other Hb abnormalities were also detected including 15 Hb S (HBB: c.20A>T) heterozygotes, two Hb D-Punjab (HBB: c.364G>C) heterozygotes and two compound heterozygotes for Hb D-Punjab and Hb E. Of the 80 homozygous Hb E babies, four were non-tribal and 76 babies were tribal, and 225 patients carried Hb E trait, 141 were tribal, while 84 were non-tribal. Of 40 G6PD deficient babies identified, 13 had coinherited Hb E and two babies had pyruvate kinase deficiency. α Genotyping was performed in 162 affected babies, 50 of them carried α gene deletions. Newborn screening programs for Hb E, other hemoglobinopathies and G6PD deficiency must be encouraged in the malaria-endemic northeastern region of India. Drug-induced hemolysis can also be avoided by screening for G6PD deficiency at birth.
Embryonal rhabdomyosarcoma (Sarcoma botryoides) of the uterine cervix is an uncommon entity. Because of extreme rarity its discussion has mainly been in the light of individual case reports. We report a case of a 14-year old female who presented with irregular vaginal bleeding and cervical polyp. Her biopsy specimen confirmed sarcoma botryoides and she underwent abdominal hysterectomy with wide excision of vaginal cuff after a multidisciplinary consultation.
ABSTRACT:Gestational trophoblastic disease is a broad disorder of abnormal fertilization of ovum. Early detection and treatment is the best approach to prevent mortality and morbidity of patients of gestational trophoblastic tumors. All trophoblastic cells produce hcg (human chorionic gonoadotropin) and can easily be detected in urine of pregnant ladies. When urine pregnancy test become negative in a highly suspected patient, the management becomes difficult. In this case, though the urine pregnancy tests were negative on several occasions, serum β hcg level was very high > 1500000 mIU/ml (positive) and patient was cured by chemotherapy.
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