[Rare diseases in the differential diagnosis of myalgia]. / Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien.

Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. This article focuses on rare neurological diseases that are classically associated with myalgia. In this context etiologically different diseases are considered, whereby some genetically linked diseases (fascioscapulohumeral dystrophy, FSHD, dystrophia myotonica, McArdle's disease, Pompe's disease, limb girdle muscular dystrophy) are contrasted with diseases with an (auto)immune-related pathogenesis (stiff-person syndrome, Isaacs syndrome). The aspects relevant for the diagnosis are particularly highlighted. The therapeutic aspects of the diseases are not part of this article.

[Rare diseases in the differential diagnosis of myalgia]. / Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien.

Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. This article focuses on rare neurological diseases that are classically associated with myalgia. In this context etiologically different diseases are considered, whereby some genetically linked diseases (fascioscapulohumeral dystrophy, FSHD, dystrophia myotonica, McArdle's disease, Pompe's disease, limb girdle muscular dystrophy) are contrasted with diseases with an (auto)immune-related pathogenesis (stiff-person syndrome, Isaacs syndrome). The aspects relevant for the diagnosis are particularly highlighted. The therapeutic aspects of the diseases are not part of this article.

Cholesterol affects retinal nerve fiber layer thickness in patients with multiple sclerosis with optic neuritis.

BACKGROUND AND PURPOSE: To evaluate the associations between retinal nerve fiber layer (RNFL) thickness and lipid profiles in multiple sclerosis (MS). METHODS: This study enrolled 136 patients with MS (n = 272 eyes; 108 females, 28 males, mean age: 46.7 ± 8.9 years); 45% had a history of optic neuritis (ON). Subjects received optical coherence tomography (OCT) testing to assess RNFL thickness and visual acuity testing with Snellen charts. A subset of 88 patients received pattern reversal visual-evoked potential (PRVEP) testing. Lipid profiles consisting of serum high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol and total cholesterol (TC) levels were obtained within ± 6 months of OCT. Regression analyses were used to assess the associations between RNFL thickness and lipid profile variables. RESULTS: Low RNFL thickness (P = 0.008) and higher PRVEP latency (P = 0.017) were associated with high LDL cholesterol > 100 mg/dl status. Low RNFL thickness (P = 0.008) and higher PRVEP latency (P = 0.043) were associated with high HDL cholesterol levels. Low RNFL thickness was also associated with HDL cholesterol > 60 mg/dl status (P = 0.001) and with TC > 200 mg/dl status (P = 0.015). The probability of average RNFL thickness in the lowest tertile (≤ 33rd percentile) was associated with interactions between TC > 200 mg/dl status (P = 0.001, odds ratio = 7.5, 95% confidence interval = 2.7-21) with affected/unaffected by ON status. CONCLUSIONS: High cholesterol adversely affects RNFL thickness in patients with MS with ON.

Determination of apolipoprotein A-I by kinetic nephelometry.

Apolipoprotein A-I concentration in human serum was determined by kinetic nephelometry. Under optimal reaction conditions and within the normal physiological range the relation between apolipoprotein A-I concentration and measured rate units it approximately linear. The detection limit of the assay lies at 2 micrograms/ml. The coefficient of variation within one series is 1.44%. The correlation coefficient with alpha-cholesterol, as determined by agarose electrophoresis followed by polyanion precipitation, is better than 0.94. Addition of detergent to serum dilutions increases the reaction rate, suggesting that delipidation changes the antigenic expression of apolipoprotein A-I. The magnitude of this change is constant in normal controls, but not in special pathological cases. The described technique can be recommended for routine use in clinical chemistry for measurement of apolipoprotein A-I.

Automated determination of copper in undiluted serum by atomic absorption spectroscopy.

An injection method has been adapted for the determination of copper concentration in untreated, undiluted serum by flame atomic absorption spectroscopy. Serum, 50 or 100 microliter, is automatically injected by a commercial microprobe system into a plastic cone connected to the capillary tube of the burner, at a rate of 240 samples per hour. The required sample volume is considerably decreased, and sensitivity is increased 20- to 40-fold. After 500 measurements we observed no memory effects, carryover, or clogging of the burner. We discuss common difficulties with calibration standards due to viscosity and other physicochemical interferences, and suggest the use of pooled human serum as a secondary standard. Within-run CV was 1.8%, the day-to-day CV 2.2%. Comparison with a dilution method gave a correlation coefficient exceeding 0.98.

[Concentration of alkaline phosphatase (AP) and AP/albumin ratio in bronchoalveolar lavage (BAL) for the diagnosis of interstitial lung diseases]. / Wert der Bestimmung der alkalischen Phosphatase (AP) und des AP/Albumin-Quotienten in der bronchoalveolären Lavage (BAL) für die Diagnostik interstitieller Lungenkrankheiten.

As a result of several studies with different animal models there is evidence that the concentration of AP in BAL is produced in the pneumocyte II and that an increase of AP in the BAL is a marker of tissue damage. By measuring AP in the BAL of patients with interstitial lung diseases we investigated its potential role as a diagnostic tool. To detect plasma leakage we also measured the concentration of albumin in the BAL. We studied 85 patients with following diagnoses: Sarcoidosis in 34 patients (Stage 1/2/3 14/7/13), idiopathic pulmonary fibrosis (IPF) in 14, bronchiolitis obliterans with organizing pneumonia (BOOP) in 7, hypersensitivity pneumonitis (HP) in 6. The control group consisted in 24 patients (13 nonsmokers, 11 smokers). In IPF and BOOP we observed significantly higher concentrations of AP than in controls and sarcoidosis (42.4 +/- 36.6 and 35.6 +/- 16 vs. 15.8 +/- 12.7 and 15.0 +/- 9.8 U/l, p < 0.05, ANOVA). Compared with controls in sarcoidosis higher concentrations of albumin (5.7 +/- 4 vs. 13.2 +/- 10 mg/dl, p < 0.05, ANOVA) and a lower AP/albumin-ratio (3.6 +/- 3.0 vs. 1.3 +/- 0.9 U/10 mg, p < 0.05, ANOVA) were seen. This result is an argument against plasma leakage as the source of AP in BAL. There were no differences in AP and albumin between the different stages of sarcoidosis and between smokers and nonsmokers in the control group. We conclude, that there are different concentrations of AP and albumin in BAL in different interstitial lung diseases. Compared with controls we observed higher concentrations of AP and an AP/albumin-ratio in the normal range in IPF, a normal concentration of AP and a lowered AP/albumin-ratio in sarcoidosis.

[Blood coagulation in domestic deep-seated mycoses]. / Beobachtungen zur Blutgerinnung bei einheimischen tiefen Mykosen.

Activation of blood coagulation to a varying extent affect the course of domestic invasive mycoses. Upon invasion of blood vessels by Candida or aspergilli, occasionally thrombi are formed, which may cause septic embolism. In the course of mucormycosis (syn. zygomycosis) thrombotic occlusion of afflicted blood vessels and subsequent necrosis of dependent tissue regularly occurs. Coagulation during candidosis or aspergillosis may be triggered by secreted aspartic proteinases which are able to activate factor X as has been shown previously [1, 2]. During mucormycosis, severe blood coagulation apparently is due to paracoagulation of fibrinogen which is triggered by low concentrations of extracellular fungal subtilisin-like proteinase (Arp). The enzyme is also able to inactivate the major inhibitor of blood coagulation (antithrombin III). Recent findings on the action of Arp are discussed.

[Pharmacokinetic of platin in plasma and urine of man under 1-, 8-, and 24 h-infusion with cis-dichlorodiamine-platin (II) (cis-DDP) (author's transl)]. / Pharmakokinetik von Platin im Plasma und Urin des Menschen unter 1-, 8- und 24-Stunden-Infusionsdauer mit cis-Dichlorodiamino-Platin (II) (cis-DDP).

Concentrations of platin were determined with the method of atomic absorption spectroscopy in plasma and urine from the 1st until 28th day after cis-DDP (3 mg/kg) infusion for 1, 8, and 24 h. Maximum of plasma concentration was measured always at the end of the application time. Minimal concentration was 1.9 micrograms/ml, maximal concentration 5.8 micrograms/ml. Platin could be detected until the 21st respectively 28th day between 0.01 and 0.9 micrograms/ml. The duration of cis-DDP infusions was without influence on the mean excretion of platin. Between 24 and 25% of the infused platin was excreted after 24 h, between 4.8 and 7% after further 24 h, between 1 and 2% between the 3rd and 21st day, and less than 1% thereafter. Difference in pattern of toxicity could not be clearly detected.

There's no place like home.

Many children with chronic illness or handicapping conditions may not need continual or frequent institutional care, provided that suitable home care services are available. Yet, planning and experimentation with the concept of pediatric home care is just beginning on both the national and local levels and the concept of home care has yet to become widely understood and accepted. As a result, health planners and policy markers often fail to realize the potential advantage of home care to children, to families, and to society. Instead of seeing it as the most humane and effective way of caring for the chronically ill child, they see it as an increased financial burden. They also lack the perspective needed to realize that home care is ultimately the most cost-effective health care alternative, since it involves investing in people rather than in buildings or equipment. This report attempts to disseminate more widely the concept of home care by recounting a 2-year experience with a hospital-based pediatric home care service.

Molecular biology and clinical manifestation of hereditary factor VII deficiency.

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe. Four novel mutations (IVS2+1G>C, Arg247 Cys, Glu265 Lys, Asp343 His) were detected. The relationships between genotypes of mutations and polymorphisms of the FVII gene, FVII deficiency, and clinical phenotype were investigated. Homozygosity of the Phe4 Leu, IVS4+1G>A, Cys135 Arg, Ala244 Val, and Ala294 Val;404delC and the double heterozygosity of Tyr68 Cys / IVS3-1G>A, Val252 Met / IVS2+5G>T, Val281 Phe / Cys135 Arg, Ala294 Val / Val281 Phe, Ala294 Val;404delC / Val281Phe, Ala294 Val;404delC / Arg152 stop, Ala294Val;404delC / Gln(-35) stop, Ala294 Val / Val252 Met, Ala294 Val / Gly156 Asp, and Thr359 Met / Asp242 His were related to clinical symptoms. Double heterozygotes for Arg247 Cys / IVS2+1G>C, Ala206 Thr / Pro303 Arg, Leu(-20) Pro / Val252 Met as well as IVS7+7 /Ala294 Val, IVS7+7 /Ala206 Thr, and IVS7+7 / Met298 Ile were asymptomatic. The clinical symptomatology is rather poor in correlation with the FVII activity. Concerning the clinical phanotype, a correlation seems to exist between specific mutations and clinical symptoms.