Biomedical subjects

M Haim

Publications and source records attributed to M Haim.

At least 37 records · Page 2Linked to original sources

PubMed1996

Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.

A novel rhodopsin missense mutation (M216R) was found in a Danish patient with autosomal dominant retinitis pigmentosa. Clinical examination of the proband disclosed a phenotype of intermediate severity. In view of the predicted amino acid substitution in the 5th transmembrane domain of rhodopsin, the clinical picture of the proband is in keeping with the data from the literature on patients carrying similar mutations.

Adolescent↗

PubMed1993

Retinitis pigmentosa: problems associated with genetic classification.

Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X-linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small "nucleus" of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X-linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.

Female↗

PubMed1993

Retinitis pigmentosa and allied disorders in Denmark. IV. Ophthalmic features in systemic and non-systemic cases.

We analyzed the composition of a retinitis pigmentosa (RP) sample with respect to clinical appearance. The material included 1301 affected persons derived from a national Danish survey with a high degree of completeness. The cases were grouped according to ocular signs and symptoms into typical RP, atypical RP, vitreoretinal RP, chorioretinal dystrophy, and unclassified. The relative frequency with which these groups were nosologically allocated to systemic and non-systemic retinitis pigmentosa is presented. Among 837 cases of non-systemic RP 60% had ophthalmoscopic abnormalities and visual symptoms in accordance with typical RP, 29% were characterized as atypical and 6% presented with chorioretinal dystrophy. The results of earlier epidemiological studies, sex distribution, and new diagnostic concepts based on DNA analysis are discussed.

Adolescent↗

PubMed1992

Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset.

A population survey of retinitis pigmentosa and allied disorders in the Danish population disclosed 1301 cases prevalent in Denmark per January 1, 1988. Crude prevalence rates and World Standardized prevalences of systemic and non-systemic RP are presented. Sixty-four per cent of all RP-cases were non-systemic. A preponderance of males was encountered in both systemic and non-systemic RP. Usher disease was diagnosed in 12%, Bardet-Biedl syndrome constituted 5%, and the frequency of Spielmeyer-Vogt disease was 1% of all prevalent RP-cases. Other defined syndromes occurred in 1% of the cases. The Danish figures with respect to Usher disease are compared with standardized prevalence rates from Sweden and Finland. Nineteen per cent of patients affected by non-systemic RP had an onset later than 30 years of age. In patients affected by systemic RP the eye disease tended to an earlier debut with only a few per cent beginning after the age of 30 years.

Adolescent↗

PubMed1992

Prevalence of retinitis pigmentosa and allied disorders in Denmark. III. Hereditary pattern.

A national epidemiological study revealed 1301 prevalent cases of retinitis pigmentosa (RP) in the Danish population on January 1, 1988. The corresponding number of 974 families were analyzed with respect to Mendelian inheritance groups. Thirty families, comprising 6.9% of the prevalent RP-cases, were categorized with an autosomal dominant inheritance pattern. In 187 families, 22.6% of RP-cases, autosomal recessive heredity was encountered. X-linked heredity was found in 45 families, 10.8% of the RP-cases. Simplex RP-cases comprised 562 persons (43.2% of RP-cases). About a fourth of the non-systemic X-linked cases were females. Half of these had an age at onset after 30 years, but a third had their first RP-symptoms before age 18 years. A representative fraction of parents to non-systemic autosomal dominant, autosomal recessive, X-linked, and simplex cases were evaluated concerning their age at the time they had their first affected child. Mothers of the male simplex cases were of statistically significant higher age than mothers of the other inheritance groups. This may imply a high rate of new mutations among simplex cases, especially on the X-chromosome.

Adolescent↗

PubMed1992

A population survey of retinitis pigmentosa and allied disorders in Denmark. Completeness of registration and quality of data.

The aim of this study was a complete survey of all patients in Denmark with a diagnosis of retinitis pigmentosa. The study was performed during the period 1986-1989 and included all persons living in Denmark from 1850 to 1989. We describe the methods of registration from medical and non-medical sources, based on defined criteria. The inclusion criteria were fulfilled by 1890 persons, 1056 males and 834 females. Evaluation of this 'Danish Retinitis Pigmentosa Register' demonstrates an overall completeness of about 80%, increasing from 40% for birth cohorts before 1911 to 90% for patients born since 1981. Concerning diagnostic confidence, 73% of the probands were characterized as certain, 16% as probable, and 11% as possible. Non-systemic cases comprised 61% of all probands and 31% had systemic disease, the rest being unclassified with respect to systemic involvement. The material is considered very suitable for epidemiological treatment and continuous clinical and genetic investigations.

Adolescent↗

PubMed1992

Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results.

In a nation-wide study we utilized all available sources to characterize the prevalence rates of retinitis pigmentosa. 1301 persons, 715 males and 586 females, were identified, with a diagnosis of retinitis pigmentosa or some other tapetoretinal dystrophy, and living in Denmark per January 1, 1988. The corresponding completeness corrected prevalence rate of retinitis pigmentosa was 1:3026. All cases were classified as 'certain', 'probable', or 'possible'. The age specific prevalence rates increased until 40-50 years, reaching a level of 35-40 male cases per 100,000 and 25-30 female cases per 100,000. Age specific prevalence rates were standardized to the WHO World Standard Population and compared to rates reported from Britain and The United States. World standardized prevalence rate for males was 25.29 per 100,000 and for females 19.31 per 100,000. The preponderance of males was highly statistically significant, (P less than 0.01).

Adolescent↗

PubMed1991

Autosomal dominant stationary night-blindness. A large family rediscovered.

In 1909, 2 years after the famous publication by Nettleship, a large family with congenital stationary night-blindness of the 'Nougaret type' was published by the Danish district surgeon, Sigurd Rambusch. In 1990 the 'Rambusch family', still resident in the original area, was sought out and rediscovered, at which time the reconstructed part of the pedigree comprised more than 200 affected persons in 11 generations. Dark adaptometry and electroretinography were performed on a few affected family members, including a descendant with a uniocular affection. The pedigree is presented and recordings of dark adaptation courses and electroretinographical responses from a few family members are demonstrated.

Adult↗

PubMed1990

X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq.

Linkage analysis in a family with X-linked myopia gave a positive LOD score (z = 4.8 at theta = 0) for linkage to F8C. These results suggest a provisional assignment for the locus of this syndrome to the distal part of the X chromosome at Xq28. Based on the clinical and genetic evidence, a redefinition of this clinical syndrome, named Bornholm Eye Disease (BED), was made to include amblyopia, myopia, and deuteranopia. Facultative signs were optic nerve hypoplasia, reduced electroretinographic flicker function, and non-specific retinal pigment abnormalities.

Female↗

PubMed1989

[Respiratory insufficiency in acute bronchiolitis in infancy].

Forty-one infants with acute viral bronchiolitis were hospitalized in our paediatric intensive care unit during the seven year period from 1980 to 1987. In 14 out of 27 evaluated patients, Respiratory Syncitial Virus (RSV) was detected in the nasal secretions. Twenty-three children required only supportive care and monitoring. Eighteen infants had to be ventilated because of respiratory failure. The major indication for mechanical ventilation was an arterial or capillary pCO2 of more than 64 mmHg; other criteria were repeated apnoea, respiratory acidosis, and clinical deterioration. In all cases the type of the mechanical ventilation was an intermittent mandatory ventilation (IMV) with flow and time cycled respirators; muscle relaxation was not required in any case. The average duration of mechanical ventilation was 40 hours. All the children recovered uneventfully. These data suggest that even the most severe cases of acute bronchiolotis can be treated successfully, and that the mortality rate of this disease entity can be reduced to zero.

Bronchiolitis, Viral↗

PubMed1988

X-linked myopia in Danish family.

X-linked infantile myopia is described in a family of 273 members of whom 87 were examined in the National Eye Clinic. The disease may represent a new ocular syndrome, constituted by myopia combined with astigmatism, impaired vision, hypoplasia of the optic nerve heads, and deuteranopia. Obligate carriers presented slight retinal changes. Linkage studies are in progress.

Adolescent↗

PubMed1986

Congenital stationary night blindness.

Congenital stationary night blindness (CSNB) seems to be a very rare condition in Scandinavia. From Denmark a 7-generation family with the dominant form was published in 1909, and one family with the X-linked recessive form was reported from Norway. On going through the files of the National Eye Clinic for Visually Impaired, 7 patients were found (1 dominant, 4 X-linked recessive, 1 simplex case and 1 autosomal recessive). Including anamnestic information on relatives, 17 patients had a diagnosis of CSNB. The clinical findings in these cases are reported with stress on alteration in ERG, dark adaptation and the optic discs. The loss of oscillatory potentials in a carrier of CSNB is described. The provisional findings seem to indicate that 3 genetic variants are present in the Danish population. The real prevalence is estimated considerably higher than 17 out of 5 million.

Adolescent↗

PubMed1985

[Mycotic thrombosis as a rare complication of Shaw's central silastic catheter in long-term parenteral feeding in a premature infant].

A 26 days old very-low-birthweight infant with an indwelling silastic-catheter and suddenly occurring symptoms of pulmonary hypoperfusion is reported. At post-mortem examination a mycotic-thrombus originating from the right atrium was found obturating the tricuspid valve. Despite of the very low incidence of complications with central silastic-catheters one should consider thromboembolic occlusion within the heart or the great vessels in any case of an unexplained sudden deterioration with profound hypoxemia.

Cardiomegaly↗

PubMed1984

Hip fracture among the elderly in a mixed urban and rural population.

Among the 27314 people aged 60 years or more living in the northern part of the county of Storstr øm, Denmark, 117 were hospitalized with hip fracture in one year (1978), making an incidence of 4.3 per 1000. All 117 patients were seen soon after their admittance to hospital, and after one year the 86 surviving patients were seen in their homes. A higher death rate was found during the first three months, but only among patients with additional disabling diseases. Among the survivors, the possibility of leading a regular life was found to be only slightly reduced as measured by their activity-level, mobility and state of independence. Thirteen per cent of the survivors were institutionalized. The mean stay in hospital was 66 days, including transfer to a geriatric department in some instances.

Activities of Daily Living↗

PubMedDate not supplied

Effect of improved disease management strategies on hospital length of stay in the treatment of congestive heart failure.

Congestive heart failure (CHF) afflicts more than 4.6 million people in the United States and increases at a rate of 400,000 newly diagnosed patients per year. With more than 1.5 million hospital admissions per year attributed to CHF, it is the number one cause of hospitalization. Hospital length of stay (LOS) is one key determinant of greater hospital costs and has been the focus in some economic studies of CHF patients. In the present study, the potential economic benefits for hospitals from the implementation of improved disease-specific management programs in the treatment of CHF have been quantified in terms of LOS. We estimated the potential effects of disease management on LOS as a residual variation across hospitals, controlling for the effects of patient-specific characteristics, including severity of disease, health status, insurance status, and comorbidities. The study entry criteria and random sample selection yielded 5242 records for analysis. The average LOS was 7.1 days. The fixed effects or disease management practices across hospitals contribute to the explanatory power of the model by 4%. The 104 hospital-specific fixed effects measuring the potential impact of the differences in disease management relative to the reference hospital had values ranging from-3.41 to 4.33 days, for a total spread of 7.74 days, even after controlling for all other factors. The analysis suggests that the potential gain in profits for hospitals reimbursed on a per-case basis may be substantial, if disease management strategies practiced by those hospitals that lie to the left of the mean LOS were used by those that lie to the right of the mean LOS.

Aged↗

PubMedDate not supplied

Blood-retina barrier permeability is independent of trace substance lipid solubility in retinitis pigmentosa and in the healthy eye.

Differential ocular spectrofluorometry was used to assess the passive permeability of the blood-retina barrier in healthy subjects and in patients with retinitis pigmentosa by determination of the rate of inward leakage of fluorescein and fluorescein glucuronide after intravenous injection of fluorescein. In five healthy subjects we found permeabilities of 1.3 (0.6-2.8) nm/s [log-mean (range)] for fluorescein and 1.3 (0.6-3.1) nm/s for fluorescein glucuronide. Six patients with retinitis pigmentosa all had a markedly increased blood-retina barrier leakage, with inward permeabilities of 8.2 (3.4-25) nm/s for fluorescein and 8.2 (5.6-27) nm/s for fluorescein glucuronide. Since no detectable difference was found between the permeabilities of the two tracers the passive permeability of the blood-retina barrier appears to be independent of the 18-fold difference in lipid solubility between the two tracers, both in retinitis pigmentosa and in healthy subjects. Presumably, the structural substrate for leakage of small hydrophilic molecules through the blood-retina barrier is a water-filled pore, since diffusion through lipid cellular membranes would favor fluorescein over its more water soluble glucuronide.

Adult↗

PubMedDate not supplied

[Inhalation therapy with nitric oxide in pulmonary hypertension: Comparison of preterm infants versus newborn infants].

BACKGROUND: Inhaled nitric oxide (iNO) is used as a vasodilator in pulmonary hypertension (PH) of the newborn infant. PATIENTS AND METHODS: Retrospective analysis of patients, who were treated at our department with iNO in the period from 1994-2001. Response was defined as an increase of the paO (2)/FiO (2) Ratio > or = 20 % and/or a decrease of the oxygenation index (OI) >/= 20 % after 2 h (early response), and consecutively after 24 h (late response). The patients were divided into a) primary persistent pulmonary hypertension of the newbom (PPHN), or b) pulmonary hypertension secondary to meconium aspiration syndrome (MAS), sepsis or congenital diaphragmatic hernia (CDH). RESULTS: Between 1994 and 2001 we treated 47 patients with iNO at our neonatal intensive care unit. We included 16 (35 %) preterm infants (GA 34,5 [25 - 37] weeks, GG 2061 [680 - 3410] g) (Median/Range) and 31 (65 %) newbom (GA 40 [38 - 42] weeks, GG 3510 [2550 - 4560] g). 18 (38 %) patients suffered from primary PPHN, 29 (62 %) from secondary PPHN (14 MAS [30 %], 8 sepsis [17 %], 4 CDH [8 %]). 8 (50 %) preterm and 20 (64 %) term infants showed a positive iNO response after 2 h, again 8 (50 %) preterm and 20 (64%) term infants showed a positive iNO response after 24 h. There was neither a significant difference between term and preterm infants at 2 h, nor at 24 h. Between 2 h and 24 h 10 patients changed in their response to iNO. 5 (18 %) patients with early response showed a significant degradation after 24 h, whereas 5 (26 %) of the patients without early response showed a significant improvement of the oxygenation alter 24 h. Alltogether 13 (72 %) patients with PPHN, 8 (57 %) with MAS, 2 (50 %) with CDH, 4 (50 %) with sepsis showed a positive iNO response after 24 h. In regard to the oxygenation parameters at start of iNO-therapy, the patients with early response did not differ from the patient without response (median OI: 20,0 versus 21,8, median paO (2)/FiO (2) Ratio: 59,3 versus 55,0 mmHg at the start of the iNO therapy). CONCLUSION: In regard to iNO response, there was no significant difference between term and preterm infants. Due to the changing response, a positive iNO-response after 2 h had no predictive value for the further prognosis of the oxygenation situation under iNO therapy.

Age Factors↗

PubMedDate not supplied

Prognostic significance of infarction location in patients with recurrent myocardial infarction. SPRINT Study Group. Secondary Prevention Reinfarction Israel Nifedipine Trial.

This study assesses the impact of infarct location on immediate (in-hospital) and 1- and 5-year mortality among patients with reinfarction during the year following discharge from the initial episode of myocardial infarction. The analysis included 192 patients with a second myocardial infarction who were compared in four infarction location groups. The in-hospital mortality associated with reinfarction was higher in patients with a second anterior (32%) than with a second inferior (18%) location, irrespective of the first infarction location (p = 0.03). At 5 years of follow-up, the mortality (65%) tended to be higher in patients with a first anterior-second anterior infarction as compared with patients with all other combinations of location.

Age Factors↗