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Biomedical subjects

J S Patel

Publications and source records attributed to J S Patel.

At least 19 recordsLinked to original sources

Distant and delayed mitomycin C extravasation.

Mitomycin C is a vesicant chemotherapeutic agent used to treat solid tumors. Its ability to cause delayed and remote tissue injury after intravenous administration is reported in the literature. Two cases of delayed and distant mitomycin C extravasation injury occurred in our institution. In both patients, no evidence of acute extravasation was visible during or immediately after administration. Within 48 hours, one patient reported erythema, burning, and pain in the hand contralateral to the administration site. The second patient developed three distinct ulcerated lesions on her forearm within 6 weeks of receiving the agent. The lesions, located at sites of venipunctures, occurred 12-15 cm proximal to the site of mitomycin infusion. Because the drug has the potential to cause such unusual and unanticipated tissue injuries, health care professionals and patients should be aware of this hazard.

Adult↗

Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome.

A fetal malformation syndrome comprising growth retardation, anophthalmia, bilateral diaphragmatic herniae, bifid lower leg, syndactyly of the fingers, malrotation of the colon, hypoplastic kidneys and total anomalous pulmonary venous drainage is described in a female fetus from a consanguineous relationship. Differential diagnosis is discussed and it is suggested that this case represents an unusually severe form of Goltz syndrome.

Abnormalities, Multiple↗

Germline duplication of chromosome 2p and neuroblastoma.

A child with a germline duplication of chromosome 2p, 46,XY,der(13)t(2;13)(p23;q34), who developed a fatal neuroblastoma confirmed at necropsy is reported. Fluorescent in situ hybridisation studies showed chromosome 2p (p23-pter) duplicated on chromosome 13 (q34). The clinical features of the present case shared many similarities to previous reports of trisomy 2p and there have been two cases described with neuroblastoma. Germline duplication of chromosome 2p including the N-myc proto-oncogene may have pre-disposed to the development of neuroblastoma in this case.

Chromosomes, Human, Pair 13↗

Spontaneous corneal rupture in Noonan syndrome. A case report.

PURPOSE/METHODS: A variety of ocular and periocular manifestations have been described in Noonan syndrome. Collagen abnormalities have been described; however, to our knowledge spontaneous corneal rupture has not been reported. A forty-three-year-old female who presented with spontaneous corneal rupture was later diagnosed as having Noonan syndrome. RESULTS/CONCLUSIONS: Collagen abnormalities have been described with Noonan syndrome and this is likely the cause of corneal rupture in this patient.

Adult↗

Epikeratophakia to correct traumatic aphakia after penetrating keratoplasty.

A 19-year-old man with keratoconus sustained ocular trauma and became aphakic in his operated left eye 2 months after penetrating keratoplasty. Original corneal wound repair was performed without intraocular lens implantation. Attempts to correct his aphakia with a contact lens failed when the patient became intolerant to its use. As an alternative, the patient had elective epikeratophakia. A standard 8.5 mm lenticule was placed over existing corneal graft. This operation resulted in +12.25 diopters of correction and a best corrected visual acuity of 20/25 at 30 months postoperatively. There was no sign of abnormalities at the host cornea or the transplanted lenticule. This case indicates that epikeratophakia may be successfully performed over existing corneal grafts.

Adult↗

Removal of a corneal foreign body through a lamellar corneal pocket.

A piece of glass was found in the posterior central cornea of a 43-year-old victim of a motor vehicle accident. The original entry of the foreign body had healed and epithelialized. This foreign body was removed through a peripheral corneal incision and corneal stromal pocket extended to the glass particle. This technique avoids creation of a corneal incision near the optical axis and prevents unwanted distortion of the corneal topography. The authors report this case to emphasize the importance of preserving corneal topography in corneal surgery.

Accidents, Traffic↗

Bone mineralisation in type 1 glycogen storage disease.

UNLABELLED: Radial bone mineral content (BMC) was measured using single photon absorptiometry in 11 prepubertal children, aged 3.4-12.6 years, with glycogen storage disease type 1 (GSD-1), 2 of whom were receiving granulocyte colony stimulating factor (G-CSF) therapy for chronic neutropenia. Patients were short (median height SD score -1.35, range -3.74 to -0.27), and had reduced BMC Z scores (median 1.79, range -6.35 to +0.27) and radial bone width Z scores (median -0.72, range -2.00 to +0.68). Those receiving G-CSF did not differ significantly from the rest of the group. Generally dietary calcium intake was low and urinary calcium excretion increased. Urinary lactate excretion was high but did not correlate with BMC Z scores. Factors regulating bone metabolism (parathyroid hormone and 25-hydroxy vitamin D concentrations) and markers of bone formation (osteocalcin and skeletal alkaline phosphatase) were not increased implying that there was no compensation for increased bone resorption. CONCLUSION: Patients with GSD-1 may be at increased risk of fracture in later life and require close attention to metabolic control and calcium balance.

Absorptiometry, Photon↗

Streptococcus pneumoniae invasive disease in the neonatal period: an increasing problem?

UNLABELLED: A series of 11 cases of invasive infection with Streptococcus pneumoniae, occurring over an 11-year period, is reported. Eight of the 11 cases occurred during the final 2 years of the study suggesting that the incidence of infection may be increasing. Infection carries a high mortality (3/11). Morbidity includes meningitis, convulsions and respiratory failure. In one case S. pneumoniae meningitis occurred in both mother and newborn. Most mothers who carried the organism were asymptomatic at the time of delivery. CONCLUSION: S. pneumoniae should be specifically sought in swabs taken from the pregnant mother and newborn and if isolated, even in the absence of symptoms, antibiotic therapy against the organism should be strongly considered.

Adolescent↗

Levels of organochlorine pesticides in human milk in Ahmedabad, India.

Concentrations of organochlorine compounds, i.e., alpha HCH, gamma HCH, beta HCH, p,p'-DDE, p,p'-DDT, o,p'-DDT, p,p'-DDD and PCBs were determined in 50 human milk samples collected in Ahmedabad, India during 1981-1982. The mothers' ages ranged from 18 to 30 years (mean 24 years), and they were nursing their first or second child. All 50 samples contained alpha-HCH, gamma HCH, beta HCH, p,p'-DDE, and p,p'-DDT in a concentration of 17.51, 1.62, 205.48, 244.71, and 53.43, respectively (median micrograms/kg: whole-milk basis). o,p'-DDT was found in 48 samples whereas p,p'-DDD was detected in 44 samples. The concentration of o,p'-DDT and p,p'-DDD was 53.43 and 5.13 micrograms/kg (median), expressed on a whole-milk basis. PCBs were absent in all samples.

Female↗

Levels of dichlorodiphenyltrichloroethane and hexachlorocyclohexane in human adipose tissue of the Indian population.

Concentrations of dichlorodiphenyltrichloroethane (DDT) and hexachlorocyclohexane (HCH) were determined in 313 human omental fat samples collected from subjects from all five zones of India during 1977-1980. The median concentration of 2,2-bis-(p-chlorophenyl)-1,1-dichloroethylene (p,p'-DDE), total DDT, beta HCH, and total HCH were 3.4, 6.0, 1.3, and 1.9 mg/kg, respectively. The calculated national mean levels for DDT and HCH were 11.1 and 3.5 mg/kg, respectively. Although the values of DDT and HCH were not as high as those reported earlier, there is still a need for close monitoring of the bioaccumulation of these chemical residues in the Indian population.

Adipose Tissue↗

Clinical manifestations of secondary syphilis.

The results of a prospective study, aimed at having a fresh look at the clinical features of secondary syphilis in 89 patients, are presented. Eighty-one (91.0%) had syphilides, and of these, 24 (29.6%) had atypical morphology. Two or more groups of lymph nodes were enlarged in 60, and hepatosplenomegaly was seen in 20 (22.5%) patients. Condylomata data in atypical sites occurred in six patients. A total of 10 patients had alopecia on the scalp, and anterior uveitis was seen in 7 (7.9%). The clear CSF showed minimal elevation of lymphocytes in one of the 21 patients on whom lumbar puncture was performed and may, therefore, be considered unnecessary as a routine procedure. An awareness of the varied clinical presentations would assist in early diagnosis of the disease and help reduce its complications.

Adult↗