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Biomedical subjects

J H McCarthy

Publications and source records attributed to J H McCarthy.

At least 19 recordsLinked to original sources
PubMed2002

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.

BACKGROUND: The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. The mechanisms by which these mutations cause the Meesmann's phenotype are not clear. This study presents new data, examines clinical, histological, ultrastructural, and molecular aspects of MECD, and compares the features seen in this condition with those observed in other well studied keratin diseases such as epidermolysis bullosa simplex. METHODS: A two generation family with typical features of Meesmann's epithelial corneal dystrophy (MECD) was studied. All family members were examined under a slit lamp. Biopsy material from elective keratoplasty was studied by histopathological and ultrastructural analysis using standard techniques. Direct automated sequencing of genomic DNA was used for mutation detection, mutations were confirmed by restriction digest analysis. RESULTS: The abnormal corneal epithelium was acanthotic and contained numerous dyskeratotic cells and intraepithelial vesicles. By electron microscopy abnormally aggregated and clumped keratin filament bundles were detected in basal and suprabasal keratinocytes from the centre of the cornea. Direct sequencing of the patients' genomic DNA revealed a novel missense mutation (423T>G) in exon 1 of the cornea specific keratin 12 (KRT12) gene. This mutation predicts the amino acid change N133K within the helix initiation motif of the K12 polypeptide. Comparative studies with well established keratin disorders of other human epithelia underscore the pathogenic relevance of K3 and K12 gene mutations in Meesmann's epithelial corneal dystrophy. The morphological data presented here illustrate the disruptive effects of keratin gene mutations on the integrity of corneal keratinocytes. CONCLUSIONS: A clinical, histopathological, and ultrastructural study of a previously unreported family with MECD is presented. In this family the disease is ascribed to a novel mutation in KRT12. A molecular mechanism is proposed for MECD based on the comparison with other well characterised keratin diseases.

Adult↗
PubMed1991

Ischemic colitis in a crack abuser.

We report a case of acute colitis temporally associated with smoking crack. Colonoscopy revealed a patchy left-sided hemorrhagic inflammation from the rectosigmoid colon to the splenic flexure. Biopsy specimens were consistent with resolving ischemic colitis. This entity should be considered in the differential diagnosis of acute bloody diarrhea in recreational drug users.

Adult↗
PubMed1990

Endoscopic Nd-YAG laser therapy for palliation of upper gastrointestinal malignancy.

Endoscopic laser therapy with the neodymium-yttrium-aluminium-garnet (Nd-YAG) laser has been shown to provide good palliation of upper gastrointestinal obstruction caused by malignancy, and to be associated with a low morbidity and a low mortality rate. Fifty patients with inoperable upper gastrointestinal malignancy have been treated with this method: 22 had oesophageal carcinoma, 16 adenocarcinoma at the cardio-oesophageal junction, two carcinoma of the antrum and 10 recurrent tumours at the site of previous anastomoses. The main symptoms were dysphagia in 40 and vomiting in seven; three others had recurrent bleeding. An Nd-YAG laser was used to photocoagulate the tumours using power levels of 50-100 W and an average energy output per treatment of 10,000 J. Thirty patients (75%) with dysphagia improved with treatment but vomiting was relieved in only three of the seven patients with this symptom. Complications were infrequent--two patients (4%) developed a perforation and one had a respiratory arrest which was reversible. The 30-day mortality rate was 14% with 2% being related to the procedure. Endoscopic Nd-YAG laser therapy is an acceptable alternative to the more established methods of palliation such as surgical or endoscopic intubation.

Adenocarcinoma↗
PubMed1989

Cannulation of the cystic duct and gallbladder.

A hydrophilic polymer-coated, steerable guide wire with graduated stiffness can be used to cannulate the gallbladder. A catheter can then be placed in the gallbladder. This technique was successful in 9 out of 12 patients and took less than 10 minutes from the time of introduction of the guide wire until the catheter was placed in the gallbladder. There was one episode of perforation which was managed conservatively and two failures of cannulation. This technique will open up a new era in diagnostic and therapeutic endoscopy.

Catheterization↗
PubMed1988

Healing and relapse of severe peptic esophagitis after treatment with omeprazole.

We have studied the response of erosive or ulcerative esophagitis to treatment with omeprazole and its subsequent relapse on cessation of therapy in 196 patients. In the first phase of the study omeprazole (20 or 40 mg daily) was compared with placebo in 64 patients. After 4 wk there was endoscopic healing in 81% (25 of 31) of omeprazole-treated patients and in only 6% (2 of 32) of placebo-treated patients. Endoscopic healing of esophagitis was accompanied by symptom relief and histologic healing of ulceration. In the second (dose finding) phase a further 132 patients were randomized to omeprazole (20 or 40 mg daily) and endoscopic healing was assessed. In patients with the mildest grade of ulcerative esophagitis (grade 2), healing occurred at 4 wk in 87% receiving 20 mg and in 97% receiving 40 mg. In patients with grade 3 esophagitis, 67% (20 mg) and 88% (40 mg) were healed. Less than half the patients with grade 4 esophagitis (Barrett's ulcers or confluent ulceration) healed with either 20 mg (48%) or 40 mg (44%). Regression analysis in the 164 omeprazole-treated patients showed no evidence that healing was influenced by factors other than severity of esophagitis at entry and omeprazole dose. In phase 3 of the study the rate of endoscopic relapse was determined in 107 endoscopically healed patients after stopping omeprazole. Erosive or ulcerative esophagitis recurred in 88 of 107 (82%) by 6 mo. Neither initial dose, grade of esophagitis, nor smoking was shown to influence relapse rate. Omeprazole is a highly effective treatment for peptic esophagitis. The 40-mg/day dosage produces endoscopic healing slightly more quickly than the 20-mg/day dosage, and the initial endoscopic gradings are of prognostic value. Relapse occurs rapidly when treatment is stopped.

Adult↗
PubMed1988

Clinical experience in 82 patients with pancreas divisum: preliminary results of manometry and endoscopic therapy.

Although it is clear that the majority of patients with pancreas divisum have no clinical disease, there is a subset of patients who have either unexplained abdominal pain or recurrent pancreatitis. Endoscopic therapy of the minor papilla may alter the clinical course of those patients with pancreas divisum and recurrent pancreatitis. Manometric study of the minor papilla is feasible and reveals a sphincter mechanism similar to the major papilla. Clinical response to endoscopic therapy may aid in selecting patients who might benefit from surgical sphincteroplasty. Refinement of manometric study of the minor papilla offers a potential method of detecting functional obstruction of dorsal duct drainage.

Adolescent↗
PubMed1986

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.

Warburg syndrome is a recently defined autosomal recessive oculocerebral syndrome. It was previously given the acronym HARD +/- E, indicating what were regarded as the pathognomonic features, namely hydrocephalus, agyria, and retinal dysplasia with or without encephalocele. We report the case of a male infant with the typical cerebral features of hydrocephalus, agyria, and pseudoencephalocele, but without retinal dysplasia. Peters' anomaly and optic nerve hypoplasia were the main ocular defects. We believe that anterior chamber defects and optic nerve hypoplasia are the ocular defects more directly related developmentally to the cerebral defects. Definition of ocular defects is important, since diagnosis and counselling rely heavily on ocular signs, which help to distinguish this syndrome from neural tube defects in general.

Abnormalities, Multiple↗
PubMed1984

Solitary caecal ulcer as a cause of gastrointestinal bleeding.

A case of solitary caecal ulcer in an elderly woman who developed rectal bleeding is reported. The difficulties encountered in the detection of this rare lesion are described, and the importance of excluding other gastrointestinal disorders in a patient with peptic ulcer disease are highlighted.

Aged↗
PubMed1980

The presence of mast cells in agar cultures.

Using a specific stain and electron microscopy, small numbers of mast cells were detected in human bone marrow cultures. However, they were not detected in agar cultures containing murine bone marrow cells. In bone marrow cultures from three patients with acute myeloid leukemia the number of mast cells was elevated.

Agar↗
PubMed1979

Haemopoietic progenitor-cell responses in mice with the transplanted lymphoid leukaemia ABE-8.

BALB/c mice bearing the transplanted lymphoid tumour ABE-8 developed increased levels of neutrophil, macrophage and eosinophil progenitor cells in the marrow and spleen. Neutrophil-macrophage progenitors, assayed as granulocyte-macrophage colony-forming cells in agar, increased in number only if invasion of the marrow or spleen by ABE-8 cells was demonstrable. Rises in B-lymphocyte colony-forming cells occurred whether or not there was invasion of the host spleen or marrow. No increase in progenitor cells was found in mice bearing diffusion chambers containing ABE-8 cells. The magnitude of leukaemic infiltration was determined by assaying numbers of leukaemic stem cells in the spleen and marrow using a selective cloning system. This transplanted lymphoid leukaemia appears to be a useful model for analysing the effects of haemopoietic tumours on host haemopoietic tissues.

Animals↗
PubMed1979

Bone aluminium in haemodialysed patients and in rats injected with aluminium chloride: relationship to impaired bone mineralisation.

Iliac bone aluminium was determined by neutron activation analysis in 34 patients with chronic renal failure and in eight control subjects. In 17 patients treated by haemodialysis there was a significant increase in the amount of aluminium (mean +/- SE = 152 +/- 30 ppm bone ash). In eight patients treated by haemodialysis and subsequent renal transplantation, bone aluminium was still significantly increased (92 +/- 4.5 ppm bone ash) but was less than in the haemodialysed patients. In some patients aluminium persisted in bone for many years after successful renal transplantation. There was no relationship between hyperparathyroidism and bone aluminium. Although no statistically significant relationship was found between the mineralisation status of bone and bone aluminium, patients dialysed for the longest periods tended to be those with the highest levels of aluminium, osteomalacia, and dialysis encephalopathy. In 20 rats given daily intraperitoneal injections of aluminium chloride for periods of up to three months, there was accumulation of aluminium in bone (163 +/- 9 ppm ash) to levels comparable to those obtained in the dialysis patients, and after about eight weeks osteomalacia developed. The increased bone aluminium and osteomalacia persisted after injections had been stopped for up to 49 days, although endochondral ossification was restored to normal. As a working hypothesis it is suggested that aluminium retained in the bone of the dialysis patients and the experimental animals interferes with normal mineralisation.

Adult↗