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Biomedical subjects

Seema Kapoor

Publications and source records attributed to Seema Kapoor.

16 recordsLinked to original sources
PubMed2006

Albright's hereditary osteodystrophy.

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.

Child↗
PubMed2005

OMENS-plus syndrome.

The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.

Abnormalities, Multiple↗
PubMed2005

Beta-sarcoglycanopathy.

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce. The authors report a case of primary beta-sarcoglycanopathy and describe literature pertaining to this rare entity.

Child, Preschool↗
PubMed2005

Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.

Brain↗
PubMed2004

Surgical emphysema: a rare presentation of foreign body inhalation.

An 11-year-old girl with an almond lodging in the tracheobronchial tree is described. She presented with an uncommon symptom of subcutaneous emphysema The x-ray revealed left-sided pneumothorax and pneumomediastinum. Intercostal drain was inserted, but she developed respiratory failure and was ventilated. After initial stabilization for 60 hours, she deteriorated again and her x-ray revealed right-sided collapse. After removal of the foreign body, she was discharged but presented again with stridor necessitating tracheostomy. Tracheal stenosis was found and required end-to-end anastomosis. The authors feel that, while foreign bodies are uncommon in this age group with emphysema as a rarer manifestation, this cause should be kept in mind, even in the absence of forthcoming history. A high index of suspicion for tracheobronchial foreign body is required in atypical presentations of acute pediatric respiratory distress.

Airway Obstruction↗
PubMed2004

Aztreonam.

Aztreonam belongs to the monobactam group of naturally occurring antibiotic compounds characterized by a monocycling ring structure. Aztreonam is the first monobactam that has been approved for use in pediatric medicine by US FDA in the year 1998.

Anti-Bacterial Agents↗
PubMed2004

Gerodermia Osteodysplastica.

Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old female having phenotypic and radiological features suggestive of this genetic disorder.

Adolescent↗
PubMed2003

Neonatal adrenal hemorrhage with intraperitoneal spill managed conservatively.

A neonate presented with anemia, hyperbilirubinemia and bilateral flank fullness at 23 days of age. Ultrasound abdomen showed bilateral adrenal hemorrhage with intraperitoneal extension on the left side. This was managed nonoperatively and the hematoma resolved completely. Literature regarding this rare entity is described.

Adrenal Gland Diseases↗
PubMed2003

Giant chylolymphatic cyst of the jejunal mesentry in a child: report of a case.

A giant chylolymphatic cyst from the jejunal mesentery in a 4-year-old boy is herein described. The child presented with an acute intestinal obstruction and the etiology of the obstruction was only discovered at surgery, even though preoperative abdominal sonography had hinted at the presence of a mesenteric lesion. An excision of the cyst, along with part of the involved bowel, was performed and was curative. The literature regarding the origin, presentation, complications, and particularly, the diagnosis of this rare lesion is also reviewed.

Child, Preschool↗
PubMed2003

Bronchoesophageal fistula in a neonate: radionuclide study as diagnostic modality.

A neonate with H-type fistula between esophagus and right bronchus is described. He presented with an uncommon symptom of hypersialosis. The fistula was missed both at cinesophagogram and endoscopy, the modalities currently held as investigations of choice for the diagnosis of this entity. Instead it was incidentally picked up by radionuclide study undertaken to rule out dyskinesia or gross gastroesophageal reflux, which demonstrated the tract unequivocally. To the best of our knowledge this modality has not been used earlier for this purpose. The authors feel that although persistence in attempts to demonstrate the tract preoperatively is important, radionuclide study can also be considered as a diagnostic tool in difficult cases.

Bronchial Fistula↗
PubMed2002

Detecting protein losing enteropathy by Tc-99m dextran scintigraphy: a novel experience.

OBJECTIVE: To evaluate protien using enteropathy by Tc-99m dextran scintigraphy. METHODS: Methods for detecting protein loss from the intestine revolve around fecal nitrogen excretion, the clearance of alpha-1 antitrypsin in stools and by endoscopic biopsy. RESULT: The diagnosis of protein-losing enteropathy (PLE) can also be established by a scintigraphic method that is noninvasive, simple and requires no patient preparation or motivation. This diagnostic modality can also delineate the site of protein loss, thereby offering a targeted approach, and if need be, surgery. Radiolabelling of a non-protein, noncolloidal, nonparticulate and biofriendly molecule like dextran with Technetium-99m for imaging enteric protein loss was utilized in imaging eight children with PLE. CONCLUSION: The results were encouraging. The authors advocate the use of this diagnostic tool in identifying patients with PLE, particularly in the pediatric age group.

Child↗
PubMedDate not supplied

Familial calcific band-shaped keratopathy: report of two new cases with early recurrence.

We report two siblings with the rare entity of familial calcific band-shaped keratopathy (BSK). Detailed ophthalmic and systemic investigations failed to reveal any underlying causative pathology. Topical disodium ethylenediamine-tetraacetate (EDTA) was applied for 30 min to all four eyes. In addition the right eye of the younger sibling required a superficial keratectomy. An improvement in corneal clarity was seen in the immediate postoperative period in both siblings. Histopathology of the keratectomy specimen revealed linear extracellular sub-epithelial granular calcium deposits. However, an early recurrence was noted in all four eyes at four weeks postoperatively. We report the second instance in the English literature of this entity. Band-shaped keratopathy presenting without an obvious etiology merits a complete systemic and ophthalmic workup. Patients with familial idiopathic BSK could be cases with poor prognosis for treatment with EDTA due to an early recurrence of the disease.

Calcinosis↗