Oreocnide integrifolia Flavonoids Augment Reprogramming for Islet Neogenesis and β-Cell Regeneration in Pancreatectomized BALB/c Mice.

Agents which can either trigger proliferation of β-cells or induce neogenesis of β-cells from precursors would be of pivotal role in reversing diabetic manifestations. We examined the role of flavonoid rich fraction (FRF) of Oreocnide integrifolia leaves using a mice model of experimental regeneration. BALB/c mice were subjected to ~70% pancreatectomy (Px) and supplemented with FRF for 7, 14, and 21 days after pancreatectomy.

Antioxidant rich flavonoids from Oreocnide integrifolia enhance glucose uptake and insulin secretion and protects pancreatic β-cells from streptozotocin insult.

Background: Insulin deficiency is the prime basis of all diabetic manifestations and agents that can bring about insulin secretion would be of pivotal significance for cure of diabetes. To test this hypothesis, we carried out bioactivity guided fractionation of Oreocnide integrifolia (Urticaceae); a folklore plant consumed for ameliorating diabetic symptoms using experimental models.

Methods: We carried out bioassay guided fractionation using RINmF and C2C12 cell line for glucose stimulated insulin secretion (GSIS) and glucose uptake potential of fractions.

Congenital and inherited ophthalmologic abnormalities.

Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.

Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD).

Ovarian dysgenesis with balanced autosomal translocation.

Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient.

Krabbe disease--clinical profile.

Objective: To study clinical features and investigations of children with Krabbe Disease (KD).

Design: Retrospective.

Setting: Genetic Clinic of a tertiary care teaching hospital.

Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.

Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.

Autosomal dominant ectrodactyly with sensorineural deafness.

Ectrodactyly or split hand/split foot malformation as it is now known, is a rare developmental disorder sometimes associated with other systemic malformations. Very few cases of congenital hearing loss coexisting with ectrodactyly have been reported world-wide. We profile one such family with the father and daughter being affected with bilateral foot ectrodactyly minor abnormalities of the 5th fingers and severe sensorineural hearing loss (SNHL).

Familial glucocorticoid deficiency, alacrimia and achalasia--Allgrove syndrome.

We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case.

Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy.

Benzathine penicillin induced immune haemolytic anaemia.

Penicillin-induced immune haemolytic anaemia is very rare. A ten year-old-female with rheumatic mitral stenosis on benzathine penicillin prophylaxis presented with features of haemolytic anaemia and investigations supported the diagnosis of immune haemolytic anaemia. Patient responded to discontinuation of the drug and therapy with oral prednisolone.

Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated.

Supernumerary limbs: a case report of a rare congenital anomaly.

We report a case of an 18-month-old female who presented with three supernumerary upper limbs of varying lengths on the right side. Each limb had a proximal, middle, and distal segment, and an intercalated elbow and wrist joint. A single digit was present in the superior limb, three digits in the middle limb, and two digits in the caudal-most limb.

Familial congenital valvar pulmonary stenosis: autosomal dominant inheritance.

A mother and three of her four children, one girl and two boys, who had valvar pulmonary stenosis are described. One child had an associated septum secundum atrial septal defect, and another had an associated ventricular septal defect. An autosomal dominant mode of inheritance is likely for the valvar pulmonary stenosis.

Clinical and enzyme studies in Gaucher disease.

Objective: To study the clinical and biochemical spectrum of Gaucher disease.

Design: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis.

Setting: Hospital-based.

Cri du chat syndrome.

Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.

Craniosynostosis with Marfan syndrome, hand and foot anomalies.

We report a patient with various connective tissue abnormalities suggesting a distinctive connective tissue disorder combining some features of the Marfan syndrome with craniosynostosis and hand and feet anomalies.