Paediatric supracondylar humeral fractures: the effect of the surgical specialty on the outcomes.

PURPOSE: The effect of surgical specialty on the outcomes of paediatric patients treated for displaced supracondylar humeral fractures remains unclear. The results of residents, paediatric surgeons and orthopaedic surgeons were compared. METHODS: A retrospective review of 108 children (0 to 16 years) treated for displaced humeral supracondylar fractures (Gartland II or III) requiring closed or open reduction under general anaesthesia were included. The patient charts and radiographs were evaluated to identify type, grade and neurovascular complications. Operative performance (operative time, quality of reduction, need for open reduction, complications) of residents, paediatric surgeons and orthopaedic surgeons were evaluated. RESULTS: Residents used a crossed pin configuration for patients in 25/25 (100%), paediatric surgeons in 25/32 (78%) and orthopaedic surgeons in 33/33 (100%) (p = 0.0011). Loss of reduction was present in one patient treated with crossed pins, in two with lateral pins and in two without Kirschner-wires (p = 0.0034). The risk ratio of an unacceptable reduction was 4.0 (95% confidence interval (CI) 0.90 to 18, p = 0.070) for residents and 6.6 (95% CI 1.6 to 27, p = 0.0082) for paediatric surgeons as compared with orthopaedic surgeons. Complications were present in 37% of patients (11/30) for residents, 55% (24/44) for paediatric surgeons and 15% (5/34) for orthopaedic surgeons (p = 0.0013). CONCLUSION: We found statistically significant differences in the incidence of unacceptable reduction, complications and the usage of crossed pin configuration between the surgical specialties. Patients would benefit from the practice of assigning the operative treatment of displaced supracondylar fractures to orthopaedic surgeons. LEVEL OF EVIDENCE: Level III.

Impact of rheumatic diseases on oral health and quality of life.

OBJECTIVE: We investigated the effects of rheumatic diseases on oral symptoms, health habits, and quality of life in subjects with and without rheumatic diseases. The hypothesis was that patients with rheumatic diseases have more oral symptoms impairing their quality of life than healthy controls. METHODS: A questionnaire was mailed to a random sample of 1500 members of the Finnish Rheumatism Association, including those with and without rheumatic diseases. We focused on symptoms of the mouth and temporomandibular area, and health habits. Oral Health Impact Profile (OHIP14) was used to evaluate the oral health-related quality of life. We analyzed differences between subjects with and without rheumatic diseases, controlled for age, gender, smoking, and non-rheumatic chronic diseases. RESULTS: Completed questionnaires were received from 995 participants (response rate 66%). Of them, 564 reported rheumatic disease, 431 were used as controls. The patients reported significantly more all orofacial symptoms than controls. Severe dry mouth was reported by 19.6% of patients and 2.9% of controls (P < 0.001), and temporomandibular joint symptoms by 59.2% and 27.2% (P < 0.001), respectively. In the OHIP-14 questionnaire, the mean total score was significantly higher in patients (8.80 ± 11.15) than in controls (3.93 ± 6.60; P < 0.001). CONCLUSION: The study hypothesis was confirmed by showing that the patients with rheumatic diseases reported oral discomfort and reduced quality of life more often when compared with controls.

Decreased variation of inflammatory markers in gestational diabetes.

BACKGROUND: Gestational diabetes is a prediabetic state. Sub-clinical inflammation may play a role in the transition from gestational diabetes to type 2 diabetes; the role of the autonomic nervous system as a mediating system has been raised. We aimed to study the association of the sympathetic nervous system and sub-clinical inflammation in women with gestational diabetes. METHODS: We studied 41 Caucasian women with gestational diabetes and 22 healthy pregnant and 14 non-pregnant controls. We assayed plasma noradrenaline, insulin, C-reactive protein, interleukin-6, insulin growth factor-1, serum amyloid A, steroid hormone-binding globulin, α-1 acid glycoprotein and cortisol at 2400, 0400 and 0700 h. RESULTS: No differences existed in the concentrations of inflammatory markers between gestational diabetes and normal pregnancy but women with gestational diabetes showed loss of variation in C-reactive protein and serum amyloid A. Levels of hormone-binding globulin were lower in hypertensive compared with normotensive women with gestational diabetes at all time points and lowest at midnight when α-1 acid glycoprotein levels were higher in hypertensive women. CONCLUSIONS: Gestational diabetes is associated with loss of natural variation of C-reactive protein and serum amyloid A, suggesting altered modulation of inflammation. Hypertension in gestational diabetes seems not to be associated with higher levels of inflammatory markers other than α-1 acid glycoprotein.

Safety of formoterol after cumulative dosing via Easyhaler and Aerolizer.

This randomised, double-blind, double-dummy, cumulative dose, multicentre crossover study aimed to demonstrate non-inferiority in safety of formoterol delivered via Easyhaler versus Aerolizer. The secondary objective was to compare the efficacy of the devices. Thirty-three adult asthmatic subjects entered the study and 32 completed it. The study comprised screening and two study days, with each subject inhaling 96 microg (12, 12, 24 and 48 microg) cumulative dose of formoterol via the study inhalers. Serum potassium (S-K+), vital signs and spirometry were performed at baseline, 1h after each dose and additionally 4h after the last dose. The primary safety variable was S-K+. Secondary safety variables were heart rate, corrected QT interval, blood pressure, serum glucose and adverse events. Spirometry was assessed to evaluate efficacy. The results showed non-inferiority in safety of formoterol inhaled via Easyhaler compared to Aerolizer. The adjusted treatment difference in the S-K+ values after 96 microg cumulative dose of formoterol was 0.14 mmol/L being clearly above the pre-determined lower limit of the non-inferiority criterion of -0.2 mmol/L. There were dose-related changes in secondary efficacy variables after both treatments. The changes were comparable in most of the parameters but heart rate was statistically significantly higher and decrease in diastolic blood pressure greater after formoterol via Aerolizer than that via Easyhaler. The occurrence of adverse events was dose-related, the most common events being tremor, hypokalaemia, headache and palpitation. The spirometry results showed no statistically significant difference in efficacy between the treatments. In conclusion, formoterol delivered via Easyhaler was as safe as via Aerolizer.

[Muscle-eye-brain disease. Presentation of one case with genetic study]. / Trastorno músculo-ojo-cerebro. Presentación de un caso con estudio genético.

INTRODUCTION: The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study. MATERIAL AND METHODS: We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed. RESULTS: Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing <> image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study of the cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G>C and c.1895+1_4delGTGA, within the POMGnT1 gene. CONCLUSIONS: The patient shows typical clinical, neurophysiological, histological and genetic MEB features.

Trastorno músculo-ojo-cerebro. Presentación de un caso con estudio genético / Muscle-eye-brain disease. Presentation of one case with genetic study

Introducción. El objetivo es presentar un caso de trastorno músculo-ojo-cerebro con estudio genético. Material y métodos. Se ha estudiado un varón afecto desde los 7 meses hasta los 21 años y se le han practicado todos los estudios clínicos, analíticos, neurofisiológicos (EEG, EMG, potenciales evocados visuales [PEV] y electrorretinograma [ERG]), de imagen (TC, RM), biopsia cerebral y genéticos (secuenciacion de la región codificante y sitios de splicing del gen POMGnT1). Resultados. Afectación visual con atrofia papilar desde los primeros meses de vida, afectación severa de los PEV y del ERG, imágenes típicas de afectación cortical cerebral tipo cobblestone complex, de la sustancia blanca subcortical que afectaban a la mielinización en la TC y en la RM y lesiones hipomielínizantes y trastornos de la migración en el estudio histológico del tejido cerebral obtenido en la biopsia. El paciente sigue vivo. El estudio genético muestra la presencia de dos mutaciones recesivas, c.1274G > C y c.1895 + 1_4deIGTGA, en el gen POMGnT1. Conclusión. El paciente muestra todas las características clínicas, neurofisiológicas, de imagen, histológicas y genéticas del trastorno músculo-ojo-cerebro

Introduction. The objetive is to present a case of muscle-eye-brain (MEB) disease with genetic study. Material and methods. We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed. Results. Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing «cobblestone complex» image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study ofthe cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G > C and c.1895 + 1-4deIGTGA, within the POMGnT1 gene. Conclusions. The patient shows typical clinical, neurophysiological, histological and genetic MEB features

A distinct phenotype of distal myopathy in a large Finnish family.

OBJECTIVES: The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family. RESULTS: The disease showed autosomal dominant inheritance. Age at onset ranged from 32 to 45 years. The first symptoms for referral were clumsiness with the hands and frequent stumbling from a steppage gait. Muscle weakness was characterized by early involvement of the small muscles of the hands, gluteus medium, and both anterior and posterior muscle compartments of the legs. The disease progressed to involve other intrinsic muscles of the hands, as well as the forearm muscles, triceps and infraspinatus, and proximal lower limbs. Asymmetry of muscle involvement was common. EMG showed myopathic features, serum CK was normal or slightly elevated, and muscle biopsy showed many rimmed vacuoles and dystrophic changes. There was no evidence of linkage to Welander distal myopathy or tibial muscular dystrophy loci. CONCLUSION: These patients may have a distinct distal myopathy. Genome-wide scan is undertaken in order to identify the disease locus.

Sustained reduction in bronchial hyperresponsiveness with inhaled fluticasone propionate within three days in mild asthma: time course after onset and cessation of treatment.

BACKGROUND: Bronchial hyperresponsiveness (BHR) is characteristic of asthmatic airways, is induced by airway inflammation, and is reduced by inhaled corticosteroids (ICS). The time course for the onset and cessation of the effect of ICS on BHR is unclear. The effect of inhaled fluticasone propionate (FP) on BHR in patients with mild persistent asthma was assessed using time intervals of hours, days and weeks. METHODS: Twenty six asthmatic patients aged 21-59 years were selected for this randomised, double blind, parallel group study. The effect of 250 micro g inhaled FP (MDI) administered twice daily was compared with that of placebo on BHR assessed using a dosimetric histamine challenge method. The dose of histamine inducing a decrease in forced expiratory volume in 1 second (FEV(1)) by 15% (PD(15)FEV(1)) was measured before and 6, 12, 24 and 72 hours, and 2, 4 and 6 weeks after starting treatment, and 48 hours, 1 week and 2 weeks after cessation of treatment. Doubling doses of changes in PD(15)FEV(1) were calculated and area under the curve (AUC) statistics were used to summarise the information from individual response curves. RESULTS: The increase in PD(15)FEV(1) from baseline was greater in the FP group than in the placebo group; the difference achieved significance within 72 hours and remained significant until the end of treatment. In the FP group PD(15)FEV(1) was 1.85-2.07 doubling doses above baseline between 72 hours and 6 weeks after starting treatment. BHR increased significantly within 2 weeks after cessation of FP treatment. CONCLUSIONS: A sustained reduction in BHR to histamine in patients with mild asthma was achieved within 3 days of starting treatment with FP at a daily dose of 500 micro g. The effect tapered within 2 weeks of cessation of treatment.

Piezoelectric film transducer for recording of oculography in electro-encephalogram-polygraphy.

Oculography is important during clinical electroencephalography (EEG). Routinely, silver-silver plate/cup electrodes have been used. However, the electrical activity of the anterior parts of the brain can be mixed with the effect of eye/eyelid movements. This can result in artifacts disturbing or making it impossible to differentiate the frontal activity of the brain from eye movement artifacts. Therefore, crystal piezoelectric materials have been used for oculography, but they are relatively fragile in practice. In this study we present a new type of piezoelectric transducer for the recording of oculography, a piezoelectric polyvinylidenefluoride (PVDF) film transducer. Our preliminary material consists of routine EEG recordings of 15 subjects performed by means of this method. All recordings were of good quality and corresponded well with the routine electro-oculography recordings.

Axial myopathy--an unrecognised entity.

Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or drooping head as leading clinical features. We here report the results of clinical, histopathological, MRI, molecular genetics and electrophysiological investigations carried out on six patients affected by pure axial myopathy. Symptoms appeared within an age range of 35 to 56 years. The first symptoms were difficulty in keeping the trunk and head in an upright position. Both bent spine and dropped head were reduced in a supine position. The disease was slowly progressive. Muscle strength examination and muscle imaging revealed involvement of the spinal and neck extensor muscles only. Serum CK was normal to slightly increased. EMG and muscle biopsy specimens obtained from spinal muscles showed an advanced chronic myopathic pattern. We conclude that axial myopathy may be much more common than previously thought, because gradual progression of cervical kyphosis may often be explained as a feature of normal ageing or as an associated sign of several neurological disorders and vertebral degeneration diseases.

Disturbances in airflow dynamics and tracheal sounds during forced and quiet breathing in subjects with unilateral vocal fold paralysis.

Variable extra thoracic obstruction has been found in spirometric studies in subjects with unilateral vocal fold paralysis. The aim of the study was to further evaluate airflow dynamics in these subjects with body plethysmography and tracheal sound analysis. Ten patients with unilateral vocal fold paralysis without a history of chronic pulmonary diseases and 10 healthy control subjects were studied. Flow-volume spirometry, body plethysmography and tracheal sound analysis were performed within 1 day. The study shows that peak inspiratory flow (PIF) and specific airway conductance (SG(aw)) expressed as percentage of Finnish reference values were significantly lower and airway resistance (R(aw)) was higher among the patients than among the controls (P=0.004, P=0.026 and P=0.004, respectively). The patients had higher sound amplitude of both inspiratory and expiratory tracheal sounds than the controls [root mean square (RMS) values of the power spectra were 31.5 and 25 dB, P=0.006 in inspiration and 31.5 and 26 dB, P=0.013 in expiration, respectively]. Quartile frequencies (F25 and F50) and RMS of expiratory tracheal sounds had significant negative correlation with PIF (P=0.02, P<0.001, P=0.02, respectively) and forced inspiratory volume in 1 s (FIV(1)) (P=0.01, P<0.001, P=0.01, respectively). There was also an association between F50 and peak expiratory flow (PEF) (P=0.02). According to the present study, both quiet breathing and forced inspiration are disturbed in subjects with unilateral vocal fold paralysis. A close relationship between tracheal sounds and respiratory function tests exists.

Tracheal sounds and airflow dynamics in surgically treated unilateral vocal fold paralysis.

The aim of this study was to investigate the changes in tracheal sounds and airflow dynamics in patients who underwent surgical medialization of a unilaterally paralysed vocal fold. Ten adults with unilateral vocal fold paralysis but no history of pulmonary diseases were included. Vocal fold medialization was performed by an injection of autologous fascia into the paralysed vocal fold. Recording of tracheal sounds, flow-volume spirometry and body plethysmography were carried out before and 4-14 months after the operation. The mean number of inspiratory wheezes per respiratory cycle increased from 0.02 (range 0-0.10) to 0.42 (range 0-0.86) and the mean number of expiratory wheezes per respiratory cycle from 0.03 (range 0-0.20) to 0.36 (range 0-0.89). The increment was statistically significant (P=0.03 and P=0.04, respectively). The mean expiratory sound amplitude, in terms of root mean square (RMS), increased from 31.5 dB (range 24.0-38.0) to 34.9 dB (range 25-42) (P=0.03) and the average peak inspiratory flow (PIF) decreased from 4.63 l s-1 (range 2.84-7.51) to 4.03 l s-1 (range 2.27-6.68) (P=0.01). The results indicate that when the paralysed vocal fold is brought into midline by a surgical procedure, the prevalence of inspiratory and expiratory wheezes increases and sound intensity rises. According to this preliminary data tracheal sound analysis gives additional information for the assessment of the subtle changes in the larynx.

Familial carpal tunnel syndrome: a report of a Finnish family.

The existence of familial carpal tunnel syndrome (FCTS) as a separate autonomic entity has been discussed during the last few years. In order to contribute with more data to the literature, we report here the results of clinical. electrophysiological, pathological and radiological studies performed in 5 patients belonging to the same Finnish pedigree. The disease appeared usually before the second decade with numbness and pain on the I--III digits. In most patients symptoms were unilateral but within 2 years they became bilateral. In all patients typical electrophysiological features of median nerve entrapment have been recorded. X-rays of the wrist showed narrow carpal tunnel in all patients. In all patients the possibility of having HNPP as well as familial amyloidosis has been excluded by molecular genetic and pathological studies. All patients underwent surgery and at postoperative stage symptoms were relieved or completely disappeared. Our study supports the theory that FCTS exists as a separate autonomic entity, therefore it is important in front of a sporadic case to investigate the family occurrence of CTS.

Airway flow dynamics and voice acoustics after autologous fascia augmentation of paralyzed vocal fold.

The aim of this study was to assess the effect of vocal fold medialization, accomplished by injection of autologous fascia, on airflow dynamics and voice acoustics. Ten patients with unilateral vocal fold paralysis were included. Flow-volume spirometry, body plethysmography, and acoustic analysis of voice were performed within 1 week before injection of autologous fascia and 4 to 14 months after operation. Medialization of the paralyzed vocal fold decreased the mean peak inspiratory flow (PIF) from 4.63 L to 4.10 L (p = .012). The acoustic characteristics of the voice improved: the values of jitter, shimmer, and mean noise-to-harmonics ratio decreased significantly (p = .006, p = .017, and p = .047, respectively), and the mean maximal phonation time almost doubled (p = .002). Changes in PIF and shimmer showed a negative correlation (r = -.857, p = .007). In conclusion, injection of autologous fascia improves voice acoustics, but induces a slight abnormal limitation on PIF. The results also suggest that improvement in voice acoustics is most prominent in subjects with the least deterioration in inspiratory airflow.

Phase II study of docetaxel alternating with cisplatin in chemotherapy-naïve patients with advanced non-small cell lung cancer.

The objective of this study was to evaluate a regimen of full doses of docetaxel and cisplatin, using an alternating schedule, as first-line therapy for patients with inoperable non-small cell lung cancer (NSCLC). The standard concomitant schedule does not allow full doses of both drugs to be administered. We wanted to see if there was an advantage to be gained by administering full doses of both docetaxel and cisplatin, using a different schedule. Docetaxel 100 mg/m2 was given once every 6 weeks from week 1 and cisplatin (120 mg/m2 for two doses and 100 mg/m2 thereafter) once every 6 weeks from week 4, for six cycles (three docetaxel and three cisplatin). Thirty-six of the 44 patients enrolled were evaluable for efficacy. Forty-eight percent of the patients had good (KPS 90-100%) performance status. A median of five cycles was administered, for which no dose reductions were necessary. There were 13 of 36 partial responses (36%; 95% CI 21-54%) and 15 of 36 patients achieved stable disease (42%). The median duration of response was 10.5 months, the median time to progression was 4.5 months and the median survival was 9 months. The 1 and 2 year survival rates were 39 and 16%, respectively. The most frequent grade 3-4 toxicities were nausea (23% of patients), vomiting (18%) and neutropenia (77%). Infections were also common, but not severe. The alternating schedule produced response, toxicity and survival figures that compared favorable with those using the concomitant schedule. This study could serve as a model for future studies of non-cisplatin-containing regimens, in which full doses of docetaxel could alternate with full doses of other new agents active against NSCLC.

A new versatile PC-based lung sound analyzer with automatic crackle analysis (HeLSA); repeatability of spectral parameters and sound amplitude in healthy subjects.

A versatile PC-based lung sound analyzer has been developed for short-term recording and analysis of respiratory sounds in research and clinical applications. The system consists of two sound sensors, a flow sensor, a filtering signal amplifier and a PC with a data acquisition card and software for measurement and analysis of the sounds. The analyses include phonopneumography, time expanded waveform analysis, spectral analysis with time averaged Fast Fourier Transform, frequency analysis in time domain (sonogram), and automatic detection and waveform analysis of crackles. Short-term repeatability of spectral parameters of tracheal and lung sounds was studied in 10 healthy subjects. The coefficients of variation (CoV) of the averaged quartile frequencies (F25, F50 and F75) of lung sounds during flow-controlled tidal breathing were 3.7, 4.0 and 8.9% in expiration and 2.7, 3.5 and 4.5% in inspiration, respectively. CoVs of the averaged F25, F50 and F75 of expiratory tracheal sounds were 6.9, 3.0 and 2.4%, and those of inspiratory tracheal sounds 6.3, 2.6 and 3.3%, respectively. Examples of lung sound analysis of samples containing adventitious sounds such as crackles and wheezes are presented. The results indicate that the median frequency has the best repeatability of quartile frequencies of breath sounds and they suggest that the variations of those parameters are low enough for diagnostic purposes. The results also suggest that the analyzer can be a useful new tool for pulmonary research in the fields of physiological and clinical short-term studies of respiratory sounds.

A new method for automatic wheeze detection.

A new automatic wheeze detection method which is based on image processing techniques applied to the sonagram was developed here. In the calculation of the sonagram, autoregressive and FFT spectrum estimation methods were compared. The method was validated in four wheezing asthmatic patients by a pulmonary physician. Nine out of ten wheezes longer than 250 ms were detected. Very short wheezes were not detected. The false positive amount of wheezing in control subjects was only about 1%. The method extracts also information about the frequency, duration, flow and volume associated with the wheezes.

Classification of respiratory sounds based on wavelet packet decomposition and learning vector quantization.

In this paper, a wavelet packet-based method is used for detection of abnormal respiratory sounds. The sound signal is divided into segments, and a feature vector for classification is formed using the results of the search for the best wavelet packet decomposition. The segments are classified as containing crackles, wheezes or normal lung sounds, using Learning Vector Quantization. The method is tested using a small set of real patient data which was also analysed by an expert observer. The preliminary results are promising, although not yet good enough for clinical use.

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). We screened for mutations in the peripheral myelin protein genes connexin 32 (Cx32), myelin protein zero (P0) and peripheral myelin protein 22 (PMP22) by direct sequencing. All patients chosen for mutation screening were negative for the 1.5 Mb duplication/deletion at 17p11.2-p12. Eleven Cx32 mutations were found in 12 families, six with a CMT2 diagnosis, three with a CMT1 diagnosis and three with unclassified CMT. The total number of patients in these 12 CMTX families was 61, giving a minimum prevalence of 1.2/100,000 for CMTX in Finland. Four of the mutations, Pro58Arg, Pro172Leu, Asn175Asp and Leu204Phe, have not been previously reported. One male patient with an early onset CMT had a double Cx32 mutation, Arg22Gln and Val63Ile. The double de novo mutation was found to be of maternal grandpaternal origin. In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient. Both mutations have been previously reported in other CMT1 families. A novel PMP22 mutation, deletion of Phe84, was found in one sporadic DSS patient. Our mutation screening results show the necessity of molecular diagnosis, in addition to clinical and electrophysiological evaluation, for proper subtyping of the disease and for accurate genetic counseling.