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Biomedical subjects

F Lennon

Publications and source records attributed to F Lennon.

At least 37 records · Page 2Linked to original sources

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myelin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13-21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(theta) = 9.19 at theta = 0.00 (95% confidence limit 0.00-0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders.

Age of Onset↗

Intensive care in an Irish district general hospital--a three year review.

The International Missionary Training Hospital is a 340-bed acute general hospital with maternity and paediatric units. It serves a population of 120,000 people within the North Eastern Health Board Area and has approximately 14,000 admissions each year. This report retrospectively reviews the activity of a three bedded, Intensive Therapy Unit (ITU) over the three year period July 1987-June 1990. 805 patients (1.9% of hospital admissions) with an average age of 55 +/- 22 years (mean +/- SD, range 14-94 years) were admitted to the unit. There were 458 males (57%) and 347 females (43%). 68% of the patients were admitted from the general wards and the remainder from the accident unit. 59% of the admissions were immediate postoperative cases. 82% of patients had APACHE scores less than 20. There was a wide diversity of medical and surgical diagnoses requiring treatment. 219 cases required one or more systems to be supported and 586 (73%) were admitted as high dependency cases. For those requiring ventilation, the average ventilation time was 3.2 days (range 0.5-23 days). The average length of stay within in the unit was 2.3 days (range 1-23 days). 86% of the patients were discharged to the wards, 11% died and 3% were transferred to external specialist care facilities. ITU's in district general hospitals serve as both critical care areas and high dependency units. In our opinion they produce a positive contribution to progressive patient care for high risk medical and surgical patients.

Adolescent↗

Audit of open cholecystectomy in a district general hospital.

This retrospective study audited all non-malignant biliary surgery carried out in a district general hospital between January 1985 and December 1990. Surgery was performed on 722 patients: 555 (77 per cent) were women and 167 (23 per cent) were men. The mean(s.d.) age of the patients was 49(16) years. Elective admissions accounted for 70 per cent of cases and 30 per cent were emergency admissions. Ultrasonography confirmed the diagnosis in 93 per cent of cases. An elective operation was performed in 542 patients and 180 patients underwent an urgent or emergency operation. Simple cholecystectomy was performed on 616 patients (85 per cent); 92 (13 per cent) also underwent common bile duct exploration and 14 (2 per cent) had an additional unrelated procedure. The mean(s.d.) hospital stay was 12.3(6.3) (range 4-34) days. There was one perioperative death. The general overall morbidity rate was 25 per cent and the procedure-related morbidity rate was 7 per cent. For simple cholecystectomy (n = 630) there were no deaths; the general morbidity rate was 15 per cent and the procedure-related rate was 3 per cent.

Adolescent↗

Physiological and metabolic responses to open and laparoscopic cholecystectomy.

This study examined respiratory function and metabolic and subjective responses in patients undergoing laparoscopic (n = 10) and open (n = 11) cholecystectomy for chronic cholecystitis and biliary colic. Patient groups were matched for age, sex, weight and height. The duration of operation was similar in both groups. Respiratory function tests (vital capacity, forced expiratory volume in 1 s, peak flow and arterial blood gases), urinary cortisol, vanillylmandelic acid, metanephrines and nitrogen loss, serum complement component C3 and C-reactive protein (CRP), full blood count, erythrocyte sedimentation rate (ESR) and subjective responses as assessed on a pain analogue scale and by analgesic usage were determined for up to 48 h after surgery. Deterioration in perioperative respiratory function was significantly less for laparoscopic surgery. Arterial blood gas determinations indicated a greater perioperative decrease in arterial pH, with carbon dioxide retention in patients undergoing open cholecystectomy (P < 0.02), reflecting poorer respiratory performance. Hormonal profile changes demonstrated an increase in urinary vanillylmandelic acid in the laparoscopic cholecystectomy group (P < 0.04); no differences were detected in urinary cortisol, metanephrine or nitrogen excretion. Acute-phase responses were greatest in patients undergoing open cholecystectomy as determined by ESR and CRP level (P < 0.02 and P < 0.003, respectively). Pain and analgesic usage were significantly decreased in the laparoscopic cholecystectomy group (P < 0.0009) and P < 0.0001), which led to a decreased hospital stay after operation in these patients (P < 0.0001). These data indicate improved respiratory and subjective responses and diminished acute-phase responses associated with laparoscopic surgery. Catabolic hormone release may, however, be increased.

Acute-Phase Reaction↗

A review of the nature and activity of a general surgical service in Ireland.

The steady increase in hospital costs has led to demands for closer scrutiny of activity levels, workloads and outcomes. This study sought to examine these parameters in a typical district general surgical unit in this country. In the five year period 1985-89, 11,227 inpatient and 3,354 outpatient procedures were performed; 83% of the inpatient procedures were elective and 17% were emergency surgical operations. All inpatient procedures were categorized: minor (41%), intermediate (42%) and major (17%). A prospective one year review in 1990/1991 confirmed the accuracy of the retrospective data. During that year 2,335 inpatient operations and 765 outpatient operations were performed, of which 80.5% of the inpatient operations were elective and 19.5% were emergency procedures. Of these 16.6% were major, 34.4% intermediate and 49% were minor operations. 60% of the operations were performed by consultants. The in-hospital surgical mortality for the 1 year prospective review was 1.35% and the perioperative mortality was 0.64%. The overall operation morbidity rate was 9% and the procedure-related morbidity was 4.7%. The wound infection rate was 2%. Of the common operations performed throughout the six year study period appendicectomies and external hernia operations accounted for 20% of the caseload; 14% were urological, 7% were breast and 6% were biliary operations. The average waiting time for elective admissions was less than 4 weeks. The average length of hospital stay and the bed occupancy rates did not change.

General Surgery↗

North Carolina macular dystrophy is assigned to chromosome 6.

North Carolina macular dystrophy (NCMD) is an autosomal dominant macular dystrophy causing impaired central vision at an early age, is completely penetrant, and is present in a single large family. With the development of the hypervariable microsatellite (CA repeats) markers in the human genome, it was possible to relatively rapidly screen most of the genome for linkage to the NCMD gene. After utilizing 124 genetic markers, which excluded over 95% of the human genome, three Marshfield microsatellites located at 6q13-q21 were linked to the NCMD locus. Marshfield marker (MFD) 131 gave a lod score of Z(theta) = 4.36 at theta = 0.137; MFD 171 gave a Z(theta) = 8.42 at theta = 0.004; and MFD 97 gave a Z(theta) = 13.10 at theta = 0.017. Other retinal diseases have been reported on 6q stressing the importance of this region and possibly suggesting that these diseases may be allelic or located in part of a large macular gene family. Locating and characterizing the NCMD gene may be an important step in understanding this group of maculopathies as well as age-related macular degeneration (AMD), a common cause of blindness in the elderly.

Adult↗

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type 1A). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM--15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT 1B. These data indicate that CMT type 2 is genetically distinct from CMT type 1.

Adolescent↗

Surgical audit under scrutiny--a prospective study.

Surgical audit must be shown to improve clinical practice and patient outcome if its widespread introduction is to be enthusiastically embraced by surgeons. Retrospective studies on hospital activity by their nature are often incomplete and unreliable. A 12-month prospective review (July 1990-June 1991) of the activity, morbidity and mortality that occurred within a district general surgical unit is analysed. During the study period, 3,927 patients were admitted to the unit, of whom 1,649 were elective and 2,278 (58%) were emergency cases. 48 patients (1.2%) were transferred to external specialist centres. 41% of the admissions did not require surgery. There were 2,335 in-patient and 765 out-patient operations performed. Using the BUPA classification (n = 3100), there were 388 major (12.5%), 802 intermediate (25.9%) and 1910 minor (61.6%) procedures. There were 15 perioperative and 38 non-operative (27 metastatic carcinoma) deaths. 80% of the perioperative deaths were high risk, elderly patients with acute abdominal pathology. 369 complications (39 in non-operative cases) were recorded among both in- and out-patients: 212 systemic, 133 local/wound and 24 major/life threatening. The perioperative mortality rate was 0.6%. The operative morbidity rate was 9.0% and the procedure-related morbidity 4.7%. The wound infection rate was 2%. In a non-specialist, general surgical unit with a broad case mix, it is possible to provide a standard of care and practice that produces very low mortality and an acceptable morbidity rate.

Hospital Bed Capacity, 300 to 499↗

Surgical emergencies in Ireland. An audit of the emergency surgical caseload of an Irish district general hospital.

Emergency cases are an increasing part of the workload of a general surgical unit. Little accurate quantitative data is presently available on the nature and impact of this workload on a typical district general surgical service. This study reports the results of a prospective one year audit of the emergency cases dealt with by a typical Irish district general surgical service. The general surgical service admitted 2,278 patients acutely, which represented 58% of the total number of admissions to the service. Eighteen patients required immediate transfer for specialist neurosurgical (11), vascular (6) or plastics (1) treatment. Of those cases admitted 1,396 (61.3%) were males and 882 (38.7%) were females. There were 1,786 (78%) adults and 492 (21.6%) paediatric cases. Abdominal pain (48.0%), head injury (23.8%) and urological problems (11.0%) accounted for the majority of the caseload. Within the abdominal pain group, the pre-dominant diagnoses were non-specific abdominal pain (36.0%), appendicitis (19.5%), cholecystitis/obstructive jaundice (10.8%) and peptic ulcer disease (10.0%). There were 456 emergency operations performed, representing 19.5% of all the inpatient general surgical procedures. 328 (72%) of these were performed out of normal working hours. Only 12% of the procedures were major. The commonest operations were appendicectomy (51%), abscess drainage (13%), wound toilet (13%) and laparotomy (11%). The emergency peri-operative mortality was 1.1%. The positive appendicectomy rate was 92%.

Emergencies↗

Highly selective vagotomy in duodenal ulceration and its complications. A 12-year review.

Highly selective vagotomy (HSV) was performed in 509 patients over 12 years for the surgical management of duodenal ulceration; 103 HSVs were carried out during the treatment of complications. The overall rate of ulcer recurrence was 7%, ranging from 10% in the first 4 years to 4% in the 6 years between 1975 and 1980. Highly selective vagotomy was performed in addition to closure of a perforated ulcer in 16 patients, with no recurrent ulcers or re-perforations. After the control of their bleeding duodenal ulcers, 25 patients had HSV with no rebleeding, although two patients had recurrent ulceration. Highly selective vagotomy was performed in 62 patients with stenosis in addition to dilatation (44) or duodenoplasty (18). There was a high incidence of recurrent ulceration (7) and stenosis (9) with digital dilatation while duodenoplasty gave better results with one recurrent stenosis and no recurrent ulceration. The authors conclude that HSV is justified by its late results as a definitive operation in chronic duodenal ulceration that allows preservation of the pylorus during surgery for complications.

Adolescent↗

Lightning injury.

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Burns, Electric↗

Effects of histamine receptor stimulation on diseased gallbladder and cystic duct.

The effects of histamine receptor stimulation on the motility of diseased human gallbladder and cystic duct were studied on tissue strips in vitro. Histamine produced concentration-dependent contractions in normal tissues and in tissues from each disease group, but the sensitivity of the strips to histamine as measured by the median effective dose was dependent upon the grade of disease: normal, 90.0 microM; mild chronic cholecystitis, 32.4 microM; advanced chronic cholecystitis, 12.5 microM; and acute cholecystitis, 3.0 microM. There were no differences in histamine sensitivity among different regions (body, neck, and cystic duct) of the biliary system. Studies with receptor-selective agonists and antagonists indicated that the contractile effects were mediated via histamine H1 receptors. Histamine H2 receptor agonists caused only small relaxant responses in about 30% of strips from gallbladder body, but were without effect in gallbladder neck and cystic duct. We conclude that the effects of histamine on the motility of diseased human gallbladder may depend upon the severity of the cholecystitis.

Bile Duct Diseases↗

Morphology of canine gallbladder. Scanning electron microscope observations on the epithelium.

Examination of the surface topography of canine gallbladder epithelium using the scanning electron microscope reveals subtle changes in the morphology of the cellular components between the full and empty states. In the full state large bays exist between relatively low, ridge-like crests or folds of mucosa which gradually increase in height as the gallbladder empties causing a subsequent reduction in size and volume of the bays. The relaxed gallbladder exhibits an irregular arrangement of tall, closely apposed mucosal folds with intervening deep valleys. The degree of apical convexity of individual epithelial cells will increase as the mucosal folds begin to relax. Other mucosal features most easily observed in the full state were small pit-like intraepithelial glands. The apical surfaces of the epithelial cells exhibit a densely uniform microvillus border and occasional membrane-bounded cytoplasmic protrusions (apical bullae) extending out into the lumen of the organ. The lateral cell membranes and basal lamina were also examined. Correlative methacrylate and transmission electron microscopic findings are included. The functional aspects of these morphological alterations and apical protrusions are discussed.

Animals↗